Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos MalacardsID MalacardsName HMGCS2 NM_001166107.1(HMGCS2):c.891-2del deletion Pathogenic 488532 rs1553240165 1:120298222-120298222 1:119755599-119755599 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.646del (p.Ser216fs) deletion Pathogenic 488533 rs1553240525 1:120301819-120301819 1:119759196-119759196 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NC_000001.11:g.(?_119768741)_(119768844_?)del deletion Pathogenic 650721 1:120311364-120311467 1:119768741-119768844 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.724+2T>C SNV Pathogenic 644135 1:120301739-120301739 1:119759116-119759116 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NC_000001.11:g.(?_119768721)_(119768864_?)del deletion Pathogenic 832206 1:120311344-120311487 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_005518.4(HMGCS2):c.181_182insCCAATATGGCCCTGGAGGCCAA (p.Val61fs) insertion Pathogenic 915425 1:120307172-120307173 1:119764549-119764550 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.160G>A (p.Val54Met) SNV Pathogenic 9261 rs28937320 1:120307194-120307194 1:119764571-119764571 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.500A>G (p.Tyr167Cys) SNV Pathogenic 9262 rs137852640 1:120306854-120306854 1:119764231-119764231 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.560-633G>A SNV Pathogenic/Likely pathogenic 9259 rs137852638 1:120302538-120302538 1:119759915-119759915 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_005518.4(HMGCS2):c.559+1G>A SNV Likely pathogenic 859738 1:120306794-120306794 1:119764171-119764171 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_005518.4(HMGCS2):c.905C>T (p.Thr302Ile) SNV Likely pathogenic 870424 1:120300007-120300007 1:119757384-119757384 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_005518.4(HMGCS2):c.512C>T (p.Ala171Val) SNV Likely pathogenic 870423 1:120306842-120306842 1:119764219-119764219 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.1061+1G>C SNV Likely pathogenic 590814 rs764706394 1:120298049-120298049 1:119755426-119755426 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.175C>A (p.Leu59Met) SNV Conflicting interpretations of pathogenicity 618164 rs181428774 1:120307179-120307179 1:119764556-119764556 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_005518.4(HMGCS2):c.111T>C (p.Ser37=) SNV Conflicting interpretations of pathogenicity 713190 1:120307243-120307243 1:119764620-119764620 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.1373G>A (p.Arg458His) SNV Conflicting interpretations of pathogenicity 9260 rs137852639 1:120293453-120293453 1:119750830-119750830 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.346C>T (p.Arg116Cys) SNV Conflicting interpretations of pathogenicity 203779 rs200607527 1:120307008-120307008 1:119764385-119764385 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.73C>G (p.Pro25Ala) SNV Conflicting interpretations of pathogenicity 203778 rs144744634 1:120311395-120311395 1:119768772-119768772 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.1396G>A (p.Val466Ile) SNV Conflicting interpretations of pathogenicity 292327 rs76773981 1:120293430-120293430 1:119750807-119750807 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.174C>T (p.Ala58=) SNV Conflicting interpretations of pathogenicity 292340 rs138739620 1:120307180-120307180 1:119764557-119764557 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.560-646C>T SNV Conflicting interpretations of pathogenicity 292336 rs886045207 1:120302551-120302551 1:119759928-119759928 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.725-14G>A SNV Conflicting interpretations of pathogenicity 292335 rs188523700 1:120300075-120300075 1:119757452-119757452 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.560-697C>T SNV Conflicting interpretations of pathogenicity 389052 rs201735169 1:120302602-120302602 1:119759979-119759979 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.1387C>T (p.Arg463Trp) SNV Uncertain significance 292328 rs780044819 1:120293439-120293439 1:119750816-119750816 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.95C>T (p.Ala32Val) SNV Uncertain significance 292344 rs199651321 1:120311373-120311373 1:119768750-119768750 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.88C>G (p.Pro30Ala) SNV Uncertain significance 292345 rs202069145 1:120311380-120311380 1:119768757-119768757 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.560-672G>A SNV Uncertain significance 292337 rs150140061 1:120302577-120302577 1:119759954-119759954 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_005518.4(HMGCS2):c.*6-11_*6-8del deletion Uncertain significance 292326 rs757178898 1:120291472-120291475 1:119748849-119748852 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.1294+13T>C SNV Uncertain significance 292329 rs771878586 1:120295159-120295159 1:119752536-119752536 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.-36T>G SNV Uncertain significance 292348 rs768747562 1:120311503-120311503 1:119768880-119768880 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.275G>A (p.Arg92His) SNV Uncertain significance 292338 rs144921290 1:120307079-120307079 1:119764456-119764456 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.26A>G (p.Lys9Arg) SNV Uncertain significance 292346 rs144004292 1:120311442-120311442 1:119768819-119768819 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.364G>A (p.Asp122Asn) SNV Uncertain significance 203780 rs368014391 1:120306990-120306990 1:119764367-119764367 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.1110T>C (p.Tyr370=) SNV Uncertain significance 292331 rs773364048 1:120295961-120295961 1:119753338-119753338 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.520T>C (p.Phe174Leu) SNV Uncertain significance 9257 rs137852636 1:120306834-120306834 1:119764211-119764211 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.1144C>T (p.Arg382Ter) SNV Uncertain significance 9258 rs137852637 1:120295927-120295927 1:119753304-119753304 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_005518.4(HMGCS2):c.*765G>A SNV Uncertain significance 875434 1:120290705-120290705 1:119748082-119748082 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_005518.4(HMGCS2):c.*155C>T SNV Uncertain significance 876456 1:120291315-120291315 1:119748692-119748692 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_005518.4(HMGCS2):c.*139C>A SNV Uncertain significance 876457 1:120291331-120291331 1:119748708-119748708 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.241G>A (p.Ala81Thr) SNV Uncertain significance 426647 rs151187711 1:120307113-120307113 1:119764490-119764490 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.1376G>C (p.Arg459Pro) SNV Uncertain significance 452101 rs372079931 1:120293450-120293450 1:119750827-119750827 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.952T>G (p.Ser318Ala) SNV Uncertain significance 470720 rs1286992834 1:120298159-120298159 1:119755536-119755536 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.347G>A (p.Arg116His) SNV Uncertain significance 577951 rs147906427 1:120307007-120307007 1:119764384-119764384 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.768G>A (p.Met256Ile) SNV Uncertain significance 570841 rs138086607 1:120300018-120300018 1:119757395-119757395 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.71C>T (p.Thr24Ile) SNV Uncertain significance 582343 rs369221781 1:120311397-120311397 1:119768774-119768774 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.1163C>T (p.Ala388Val) SNV Uncertain significance 662406 1:120295908-120295908 1:119753285-119753285 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.664C>T (p.Arg222Trp) SNV Uncertain significance 663113 1:120301801-120301801 1:119759178-119759178 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.617C>T (p.Ser206Leu) SNV Uncertain significance 662238 1:120301848-120301848 1:119759225-119759225 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.569G>T (p.Gly190Val) SNV Uncertain significance 656140 1:120301896-120301896 1:119759273-119759273 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.104G>T (p.Arg35Met) SNV Uncertain significance 645404 1:120311364-120311364 1:119768741-119768741 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.8G>A (p.Arg3His) SNV Uncertain significance 658831 1:120311460-120311460 1:119768837-119768837 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_005518.4(HMGCS2):c.1090T>A (p.Phe364Ile) SNV Uncertain significance 859739 1:120298147-120298147 1:119755524-119755524 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_005518.4(HMGCS2):c.880G>A (p.Asp294Asn) SNV Uncertain significance 838873 1:120300032-120300032 1:119757409-119757409 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_005518.4(HMGCS2):c.533A>G (p.Asn178Ser) SNV Uncertain significance 858727 1:120306821-120306821 1:119764198-119764198 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_005518.4(HMGCS2):c.502G>A (p.Gly168Ser) SNV Uncertain significance 839670 1:120306852-120306852 1:119764229-119764229 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_005518.4(HMGCS2):c.50C>T (p.Ala17Val) SNV Uncertain significance 850237 1:120311418-120311418 1:119768795-119768795 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_005518.4(HMGCS2):c.1325C>T (p.Thr442Ile) SNV Uncertain significance 873559 1:120295267-120295267 1:119752644-119752644 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_005518.4(HMGCS2):c.1132A>C (p.Asn378His) SNV Uncertain significance 873560 1:120298105-120298105 1:119755482-119755482 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_005518.4(HMGCS2):c.940C>T (p.Arg314Cys) SNV Uncertain significance 873561 1:120299972-120299972 1:119757349-119757349 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_005518.4(HMGCS2):c.830T>A (p.Ile277Asn) SNV Uncertain significance 874559 1:120301761-120301761 1:119759138-119759138 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_005518.4(HMGCS2):c.803G>A (p.Arg268Gln) SNV Uncertain significance 874560 1:120301788-120301788 1:119759165-119759165 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_005518.4(HMGCS2):c.791G>A (p.Arg264Gln) SNV Uncertain significance 874561 1:120301800-120301800 1:119759177-119759177 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_005518.4(HMGCS2):c.704T>C (p.Met235Thr) SNV Uncertain significance 874562 1:120301887-120301887 1:119759264-119759264 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NC_000001.11:g.119747985C>T SNV Uncertain significance 875431 1:120290608-120290608 1:119747985-119747985 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_005518.4(HMGCS2):c.559+15G>A SNV Uncertain significance 875488 1:120306780-120306780 1:119764157-119764157 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.*165C>T SNV Likely benign 292324 rs138575225 1:120291305-120291305 1:119748682-119748682 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency PHGDH NM_001166107.1(HMGCS2):c.*165C>T SNV Likely benign 292324 rs138575225 1:120291305-120291305 1:119748682-119748682 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.*78A>G SNV Likely benign 292325 rs143718202 1:120291392-120291392 1:119748769-119748769 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.*332A>C SNV Likely benign 292323 rs56828380 1:120291138-120291138 1:119748515-119748515 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency PHGDH NM_001166107.1(HMGCS2):c.*332A>C SNV Likely benign 292323 rs56828380 1:120291138-120291138 1:119748515-119748515 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_006623.3(PHGDH):c.*200A>G SNV Likely benign 368823 rs17258425 1:120286863-120286863 1:119744240-119744240 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency PHGDH NM_006623.3(PHGDH):c.*200A>G SNV Likely benign 368823 rs17258425 1:120286863-120286863 1:119744240-119744240 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.270G>A (p.Gln90=) SNV Benign/Likely benign 292339 rs41302817 1:120307084-120307084 1:119764461-119764461 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.998C>G (p.Ser333Cys) SNV Benign/Likely benign 292332 rs151328418 1:120298113-120298113 1:119755490-119755490 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.736C>A (p.Arg246=) SNV Benign/Likely benign 292333 rs142637231 1:120300050-120300050 1:119757427-119757427 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.732C>T (p.Ser244=) SNV Benign/Likely benign 292334 rs1992376 1:120300054-120300054 1:119757431-119757431 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_005518.4(HMGCS2):c.*12A>C SNV Benign 876458 1:120291458-120291458 1:119748835-119748835 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.-11C>T SNV Benign 292347 rs2289459 1:120311478-120311478 1:119768855-119768855 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_001166107.1(HMGCS2):c.1293G>A (p.Lys431=) SNV Benign 292330 rs142776952 1:120295173-120295173 1:119752550-119752550 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_005518.4(HMGCS2):c.*822G>A SNV Benign 875432 1:120290648-120290648 1:119748025-119748025 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency HMGCS2 NM_005518.4(HMGCS2):c.*792G>A SNV Benign 875433 1:120290678-120290678 1:119748055-119748055 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency DNAJC19 NM_145261.4(DNAJC19):c.62A>T (p.Tyr21Phe) SNV Uncertain significance 587633 rs752913622 3:180705878-180705878 3:180988090-180988090 3MT007 3-Methylglutaconic Aciduria CUBN NM_001081.3(CUBN):c.5511dup (p.Gly1838fs) duplication Pathogenic 522509 rs1168074679 10:16982067-16982068 10:16940068-16940069 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.7955C>A (p.Ser2652Ter) SNV Pathogenic 522697 rs1554790861 10:16946072-16946072 10:16904073-16904073 3MT015 3-Methylglutaconic Aciduria, Type I AMN NC_000014.9:g.(?_102870182)_(102930700_?)del deletion Pathogenic 532214 14:103336519-103397037 14:102870182-102930700 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter) SNV Pathogenic 581662 rs143944436 10:16982151-16982151 10:16940152-16940152 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.5530C>T (p.Gln1844Ter) SNV Pathogenic 579557 rs1564435943 10:16982049-16982049 10:16940050-16940050 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.4459C>T (p.Arg1487Ter) SNV Pathogenic 575738 rs145661597 10:17026170-17026170 10:16984171-16984171 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.7906C>T (p.Arg2636Ter) SNV Pathogenic 569408 rs137998687 10:16948208-16948208 10:16906209-16906209 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.5600del (p.Phe1867fs) deletion Pathogenic 599082 rs747417629 10:16981095-16981095 10:16939096-16939096 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.(?_1)_(418_?)+1del deletion Pathogenic 619968 9:91355882-91361889 3MT015 3-Methylglutaconic Aciduria, Type I AUH NC_000009.12:g.(?_91220785)_(91221012_?)del deletion Pathogenic 831476 9:93983067-93983294 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.3(AUH):c.197del (p.Gly66fs) deletion Pathogenic 850052 9:94123975-94123975 9:91361693-91361693 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.10245C>A (p.Tyr3415Ter) SNV Pathogenic 836099 10:16877130-16877130 10:16835131-16835131 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.7330C>T (p.Arg2444Ter) SNV Pathogenic 838702 10:16957052-16957052 10:16915053-16915053 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.589C>T (p.Arg197Ter) SNV Pathogenic 9056 rs121434636 9:94060275-94060275 9:91297993-91297993 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.895-1G>A SNV Pathogenic 9057 rs730880309 9:93978389-93978389 9:91216107-91216107 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001351431.1(AUH):c.-318del deletion Pathogenic 9058 rs730880310 9:94124092-94124092 9:91361810-91361810 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.263-2A>G SNV Pathogenic 9059 rs730880311 9:94118439-94118439 9:91356157-91356157 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.943-2A>G SNV Pathogenic 9060 rs730880312 9:93976709-93976709 9:91214427-91214427 3MT015 3-Methylglutaconic Aciduria, Type I TRNL1 NC_012920.1:m.3243A>G SNV Pathogenic 9589 rs199474657 MT:3243-3243 MT:3243-3243 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.559G>A (p.Gly187Ser) SNV Pathogenic 30079 rs387906755 9:94060305-94060305 9:91298023-91298023 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.650G>A (p.Gly217Asp) SNV Pathogenic 30080 rs387906756 9:94058308-94058308 9:91296026-91296026 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.1865del (p.Thr622fs) deletion Pathogenic 56323 rs386833771 10:17130245-17130245 10:17088246-17088246 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.6928_6934del (p.Glu2310fs) deletion Pathogenic 189227 rs757649673 10:16960687-16960693 10:16918688-16918694 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.3890C>T (p.Pro1297Leu) SNV Pathogenic/Likely pathogenic 6689 rs121434430 10:17083159-17083159 10:17041160-17041160 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.3(AMN):c.14del (p.Gly5fs) deletion Pathogenic/Likely pathogenic 56749 rs386834168 14:103389037-103389037 14:102922700-102922700 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs) deletion Pathogenic/Likely pathogenic 56330 rs386833777 10:17113435-17113436 10:17071436-17071437 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.2673C>A (p.Cys891Ter) SNV Likely pathogenic 56331 rs386833778 10:17110722-17110722 10:17068723-17068723 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.2949C>A (p.Tyr983Ter) SNV Likely pathogenic 56332 rs386833779 10:17110122-17110122 10:17068123-17068123 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.3056C>G (p.Ser1019Ter) SNV Likely pathogenic 56333 rs386833780 10:17107590-17107590 10:17065591-17065591 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.3096del (p.Ala1031_Tyr1032insTer) deletion Likely pathogenic 56334 rs386833781 10:17107550-17107550 10:17065551-17065551 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.3577T>G (p.Trp1193Gly) SNV Likely pathogenic 56335 rs386833783 10:17087101-17087101 10:17045102-17045102 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.3749C>T (p.Ser1250Phe) SNV Likely pathogenic 56336 rs386833784 10:17085906-17085906 10:17043907-17043907 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.3999C>A (p.Cys1333Ter) SNV Likely pathogenic 56337 rs386833785 10:17083050-17083050 10:17041051-17041051 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.4115C>G (p.Thr1372Arg) SNV Likely pathogenic 56338 rs386833786 10:17061885-17061885 10:17019886-17019886 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.4168G>A (p.Gly1390Ser) SNV Likely pathogenic 56339 rs386833787 10:17061832-17061832 10:17019833-17019833 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.434G>A (p.Gly145Glu) SNV Likely pathogenic 56340 rs386833788 10:17165642-17165642 10:17123643-17123643 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.489G>A (p.Lys163=) SNV Likely pathogenic 56341 rs386833789 10:17165587-17165587 10:17123588-17123588 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.673T>A (p.Cys225Ser) SNV Likely pathogenic 56342 rs386833790 10:17157517-17157517 10:17115518-17115518 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.889C>T (p.Gln297Ter) SNV Likely pathogenic 56343 rs386833791 10:17153044-17153044 10:17111045-17111045 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.3(AMN):c.1006+16_1006+30del deletion Likely pathogenic 56741 rs386834160 14:103396433-103396447 14:102930096-102930110 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.3(AMN):c.1006+34_1007-31del deletion Likely pathogenic 56742 rs386834161 14:103396445-103396459 14:102930108-102930122 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.3(AMN):c.1006+36_1007-29del deletion Likely pathogenic 56743 rs386834162 14:103396459-103396473 14:102930122-102930136 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.3(AMN):c.1014_1021del (p.Leu339fs) deletion Likely pathogenic 56744 rs386834163 14:103396509-103396516 14:102930172-102930179 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.3(AMN):c.208-1G>C SNV Likely pathogenic 56750 rs386834169 14:103394762-103394762 14:102928425-102928425 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.3(AMN):c.208-2A>G SNV Likely pathogenic 56751 rs386834170 14:103394761-103394761 14:102928424-102928424 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.3(AMN):c.295+1del deletion Likely pathogenic 56752 rs386834171 14:103394849-103394849 14:102928512-102928512 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.3(AMN):c.43+1G>T SNV Likely pathogenic 56753 rs386834172 14:103389069-103389069 14:102922732-102922732 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.3(AMN):c.468dup (p.Gly157fs) duplication Likely pathogenic 56754 rs386834173 14:103395266-103395267 14:102928929-102928930 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.3(AMN):c.514-34G>A SNV Likely pathogenic 56755 rs144077391 14:103395424-103395424 14:102929087-102929087 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.3(AMN):c.663G>A (p.Trp221Ter) SNV Likely pathogenic 56756 rs386834174 14:103395776-103395776 14:102929439-102929439 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.3(AMN):c.683_730del (p.Gln228_Leu243del) deletion Likely pathogenic 56757 rs386834175 14:103395792-103395839 14:102929455-102929502 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.3(AMN):c.701G>T (p.Cys234Phe) SNV Likely pathogenic 56758 rs386834176 14:103395814-103395814 14:102929477-102929477 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.3(AMN):c.742C>T (p.Gln248Ter) SNV Likely pathogenic 56759 rs386834177 14:103395855-103395855 14:102929518-102929518 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.3(AMN):c.761G>A (p.Gly254Glu) SNV Likely pathogenic 56760 rs386834178 14:103395992-103395992 14:102929655-102929655 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.3(AMN):c.974_977dup (p.Ala327fs) duplication Likely pathogenic 56761 rs386834179 14:103396389-103396390 14:102930052-102930053 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.3330-439C>G SNV Likely pathogenic 56802 rs386833782 10:17088532-17088532 10:17046533-17046533 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.1951C>T (p.Arg651Ter) SNV Likely pathogenic 56324 rs182512508 10:17127755-17127755 10:17085756-17085756 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.2068A>G (p.Ile690Val) SNV Likely pathogenic 56325 rs386833772 10:17127638-17127638 10:17085639-17085639 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.2486C>T (p.Ser829Leu) SNV Likely pathogenic 56326 rs386833773 10:17113564-17113564 10:17071565-17071565 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.250C>T (p.Gln84Ter) SNV Likely pathogenic 56327 rs386833774 10:17171122-17171122 10:17129123-17129123 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.2515_2533del (p.Glu839fs) deletion Likely pathogenic 56328 rs386833775 10:17113517-17113535 10:17071518-17071536 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.252+1G>A SNV Likely pathogenic 56329 rs386833776 10:17171119-17171119 10:17129120-17129120 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.3(AMN):c.1253dup (p.Leu419fs) duplication Likely pathogenic 56746 rs386834165 14:103396825-103396826 14:102930488-102930489 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.3(AMN):c.1257+10C>T SNV Likely pathogenic 56747 rs386834166 14:103396840-103396840 14:102930503-102930503 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.3(AMN):c.1312_1313CA[1] (p.His438fs) short repeat Likely pathogenic 56748 rs386834167 14:103396967-103396968 14:102930630-102930631 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.7001-2A>T SNV Likely pathogenic 850031 10:16958031-16958031 10:16916032-16916032 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.1230+1G>A SNV Likely pathogenic 56318 rs386833766 10:17147455-17147455 10:17105456-17105456 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.1436C>G (p.Ser479Ter) SNV Likely pathogenic 56319 rs386833767 10:17145218-17145218 10:17103219-17103219 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.1526del (p.Gly509fs) deletion Likely pathogenic 56320 rs386833768 10:17145128-17145128 10:17103129-17103129 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.1530G>A (p.Lys510=) SNV Likely pathogenic 56321 rs386833769 10:17145124-17145124 10:17103125-17103125 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.1838del (p.Gly613fs) deletion Likely pathogenic 56322 rs386833770 10:17130272-17130272 10:17088273-17088273 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.373C>T (p.Arg125Trp) SNV Likely pathogenic 208151 rs200030276 9:94118210-94118210 9:91355928-91355928 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.5549-2A>C SNV Likely pathogenic 599158 rs1564435513 10:16981148-16981148 10:16939149-16939149 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.4921del (p.Tyr1641fs) deletion Likely pathogenic 599133 rs1564443979 10:16994323-16994323 10:16952324-16952324 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.3473G>A (p.Trp1158Ter) SNV Likely pathogenic 599173 rs1564492988 10:17087950-17087950 10:17045951-17045951 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.599-2A>G SNV Likely pathogenic 642421 9:94058361-94058361 9:91296079-91296079 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs) deletion Likely pathogenic 667368 10:17026165-17026169 10:16984166-16984170 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.6095G>A (p.Cys2032Tyr) SNV Likely pathogenic 695032 10:16975115-16975115 10:16933116-16933116 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.3(AMN):c.844-1G>C SNV Likely pathogenic 567966 rs969552874 14:103396260-103396260 14:102929923-102929923 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.10285dup (p.Gln3429fs) duplication Likely pathogenic 590812 rs754704005 10:16877089-16877090 10:16835090-16835091 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.9949C>T (p.Gln3317Ter) SNV Likely pathogenic 599134 rs1564379463 10:16882412-16882412 10:16840413-16840413 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.7534-1G>T SNV Likely pathogenic 829919 10:16949679-16949679 10:16907680-16907680 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter) SNV Likely pathogenic 829936 10:16975122-16975122 10:16933123-16933123 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.4973del (p.Asn1658fs) deletion Likely pathogenic 829940 10:16992107-16992107 10:16950108-16950108 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.3(AMN):c.760+1G>A SNV Likely pathogenic 532205 rs1555381485 14:103395874-103395874 14:102929537-102929537 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.4669C>T (p.Leu1557Phe) SNV Conflicting interpretations of pathogenicity 546272 rs140970422 10:17024509-17024509 10:16982510-16982510 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.348+2T>C SNV Conflicting interpretations of pathogenicity 572384 rs146047781 10:17169826-17169826 10:17127827-17127827 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.5909_5912TACC[1] (p.Thr1972fs) short repeat Conflicting interpretations of pathogenicity 631629 rs765301342 10:16979601-16979604 10:16937602-16937605 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.2756A>G (p.His919Arg) SNV Conflicting interpretations of pathogenicity 439581 rs148869805 10:17110639-17110639 10:17068640-17068640 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.8894T>C (p.Phe2965Ser) SNV Conflicting interpretations of pathogenicity 439582 rs117620008 10:16930427-16930427 10:16888428-16888428 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.9078C>T (p.Phe3026=) SNV Conflicting interpretations of pathogenicity 695636 10:16918924-16918924 10:16876925-16876925 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.598+10A>C SNV Conflicting interpretations of pathogenicity 214142 rs186203318 9:94060256-94060256 9:91297974-91297974 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.381A>G (p.Ile127Met) SNV Conflicting interpretations of pathogenicity 214153 rs146227896 9:94118202-94118202 9:91355920-91355920 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.1951C>G (p.Arg651Gly) SNV Conflicting interpretations of pathogenicity 225332 rs182512508 10:17127755-17127755 10:17085756-17085756 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.10245C>T (p.Tyr3415=) SNV Conflicting interpretations of pathogenicity 299365 rs147730705 10:16877130-16877130 10:16835131-16835131 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.8203G>T (p.Asp2735Tyr) SNV Conflicting interpretations of pathogenicity 299408 rs149802222 10:16942831-16942831 10:16900832-16900832 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.7210+9A>G SNV Conflicting interpretations of pathogenicity 299426 rs117711403 10:16957811-16957811 10:16915812-16915812 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.5073C>G (p.Pro1691=) SNV Conflicting interpretations of pathogenicity 299473 rs200977290 10:16992007-16992007 10:16950008-16950008 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.951A>T (p.Pro317=) SNV Conflicting interpretations of pathogenicity 367476 rs530710210 9:93976699-93976699 9:91214417-91214417 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.10119C>A (p.Val3373=) SNV Conflicting interpretations of pathogenicity 299367 rs139596037 10:16878295-16878295 10:16836296-16836296 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.7509G>A (p.Pro2503=) SNV Conflicting interpretations of pathogenicity 299423 rs201001705 10:16955834-16955834 10:16913835-16913835 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.5069C>T (p.Ala1690Val) SNV Conflicting interpretations of pathogenicity 299474 rs141640975 10:16992011-16992011 10:16950012-16950012 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.3604G>A (p.Ala1202Thr) SNV Conflicting interpretations of pathogenicity 299487 rs141740096 10:17087074-17087074 10:17045075-17045075 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.3356T>C (p.Leu1119Ser) SNV Conflicting interpretations of pathogenicity 299491 rs141164907 10:17088067-17088067 10:17046068-17046068 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.678C>T (p.Arg226=) SNV Conflicting interpretations of pathogenicity 136472 rs143768042 9:93983252-93983252 9:91220970-91220970 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.3(AMN):c.1170-6C>T SNV Conflicting interpretations of pathogenicity 56745 rs386834164 14:103396737-103396737 14:102930400-102930400 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.1926C>T (p.Asp642=) SNV Conflicting interpretations of pathogenicity 299518 rs201938886 10:17130184-17130184 10:17088185-17088185 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.3252A>G (p.Gln1084=) SNV Conflicting interpretations of pathogenicity 299493 rs142560894 10:17089490-17089490 10:17047491-17047491 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.10846G>A (p.Ala3616Thr) SNV Uncertain significance 299355 rs564429505 10:16867000-16867000 10:16825001-16825001 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.9618G>A (p.Leu3206=) SNV Uncertain significance 299376 rs559567467 10:16893279-16893279 10:16851280-16851280 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.6125-2A>G SNV Uncertain significance 392184 rs75386064 10:16970304-16970304 10:16928305-16928305 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.3(AUH):c.*237G>A SNV Uncertain significance 914654 9:93976393-93976393 9:91214111-91214111 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.3(AUH):c.*175G>A SNV Uncertain significance 914656 9:93976455-93976455 9:91214173-91214173 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.3(AUH):c.*60G>A SNV Uncertain significance 914657 9:93976570-93976570 9:91214288-91214288 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.991A>T (p.Lys331Ter) SNV Uncertain significance 30081 rs387906757 9:93976659-93976659 9:91214377-91214377 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.6077T>C (p.Ile2026Thr) SNV Uncertain significance 836282 10:16975133-16975133 10:16933134-16933134 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.5215G>A (p.Gly1739Ser) SNV Uncertain significance 862845 10:16989361-16989361 10:16947362-16947362 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.4586C>G (p.Pro1529Arg) SNV Uncertain significance 854348 10:17024592-17024592 10:16982593-16982593 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.4216G>A (p.Gly1406Arg) SNV Uncertain significance 859659 10:17032467-17032467 10:16990468-16990468 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.3412A>C (p.Lys1138Gln) SNV Uncertain significance 841865 10:17088011-17088011 10:17046012-17046012 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.3371A>G (p.Tyr1124Cys) SNV Uncertain significance 848409 10:17088052-17088052 10:17046053-17046053 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.3101G>C (p.Gly1034Ala) SNV Uncertain significance 860120 10:17107545-17107545 10:17065546-17065546 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.2894A>G (p.Gln965Arg) SNV Uncertain significance 858289 10:17110177-17110177 10:17068178-17068178 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.2005T>C (p.Ser669Pro) SNV Uncertain significance 861245 10:17127701-17127701 10:17085702-17085702 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.1127G>A (p.Cys376Tyr) SNV Uncertain significance 851667 10:17147559-17147559 10:17105560-17105560 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.4(AMN):c.1064G>A (p.Gly355Asp) SNV Uncertain significance 856744 14:103396559-103396559 14:102930222-102930222 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.9454G>A (p.Gly3152Arg) SNV Uncertain significance 838826 10:16911635-16911635 10:16869636-16869636 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.9139A>G (p.Ile3047Val) SNV Uncertain significance 850065 10:16916470-16916470 10:16874471-16874471 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.8971A>T (p.Met2991Leu) SNV Uncertain significance 859267 10:16919031-16919031 10:16877032-16877032 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.8749G>A (p.Val2917Ile) SNV Uncertain significance 854369 10:16932376-16932376 10:16890377-16890377 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.8204A>C (p.Asp2735Ala) SNV Uncertain significance 836690 10:16942830-16942830 10:16900831-16900831 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.3(AUH):c.722G>A (p.Arg241Gln) SNV Uncertain significance 835499 9:93983208-93983208 9:91220926-91220926 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.3(AUH):c.385A>T (p.Ile129Phe) SNV Uncertain significance 854699 9:94118198-94118198 9:91355916-91355916 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.6560C>T (p.Ser2187Leu) SNV Uncertain significance 800746 10:16967326-16967326 10:16925327-16925327 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.8599G>C (p.Val2867Leu) SNV Uncertain significance 802565 10:16932526-16932526 10:16890527-16890527 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.1719A>T (p.Leu573Phe) SNV Uncertain significance 811288 10:17142050-17142050 10:17100051-17100051 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.6359G>A (p.Trp2120Ter) SNV Uncertain significance 299439 rs566060177 10:16967686-16967686 10:16925687-16925687 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.5189C>T (p.Thr1730Met) SNV Uncertain significance 299468 rs201958183 10:16990497-16990497 10:16948498-16948498 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.8399C>T (p.Thr2800Ile) SNV Uncertain significance 299404 rs141737312 10:16942635-16942635 10:16900636-16900636 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.-30C>G SNV Uncertain significance 367478 rs1057515677 9:94124201-94124201 9:91361919-91361919 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.*259_*262del deletion Uncertain significance 367472 rs377176126 9:93976368-93976371 9:91214086-91214089 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.*432C>T SNV Uncertain significance 367471 rs746233646 9:93976198-93976198 9:91213916-91213916 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.*218_*219del deletion Uncertain significance 367473 rs1057515675 9:93976411-93976412 9:91214129-91214130 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.5285T>G (p.Val1762Gly) SNV Uncertain significance 299467 rs149164899 10:16989291-16989291 10:16947292-16947292 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.4964C>G (p.Pro1655Arg) SNV Uncertain significance 299475 rs532968940 10:16994280-16994280 10:16952281-16952281 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.5840C>A (p.Ser1947Tyr) SNV Uncertain significance 299454 rs147617753 10:16979677-16979677 10:16937678-16937678 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.4167C>T (p.Tyr1389=) SNV Uncertain significance 299482 rs150510291 10:17061833-17061833 10:17019834-17019834 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.*29G>A SNV Uncertain significance 367475 rs200499826 9:93976601-93976601 9:91214319-91214319 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.9061G>A (p.Glu3021Lys) SNV Uncertain significance 299384 rs41289299 10:16918941-16918941 10:16876942-16876942 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.84G>T (p.Ala28=) SNV Uncertain significance 367477 rs1057515676 9:94124088-94124088 9:91361806-91361806 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.374G>A (p.Arg125Gln) SNV Uncertain significance 214152 rs137939308 9:94118209-94118209 9:91355927-91355927 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.791G>A (p.Gly264Glu) SNV Uncertain significance 214148 rs376821113 9:93983139-93983139 9:91220857-91220857 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.730G>A (p.Asp244Asn) SNV Uncertain significance 214146 rs202182817 9:93983200-93983200 9:91220918-91220918 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.3(AMN):c.400C>G (p.Arg134Gly) SNV Uncertain significance 532199 rs758317090 14:103395199-103395199 14:102928862-102928862 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.7861dup (p.Tyr2621fs) duplication Uncertain significance 632131 rs1564415858 10:16948252-16948253 10:16906253-16906254 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.7316C>G (p.Ser2439Ter) SNV Uncertain significance 632132 rs1564421451 10:16957066-16957066 10:16915067-16915067 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.9922T>C (p.Trp3308Arg) SNV Uncertain significance 599125 rs752843169 10:16882439-16882439 10:16840440-16840440 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.9524C>A (p.Ser3175Ter) SNV Uncertain significance 599129 rs368697251 10:16893373-16893373 10:16851374-16851374 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.7797C>G (p.Cys2599Trp) SNV Uncertain significance 599114 rs138758085 10:16948317-16948317 10:16906318-16906318 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.5302_5304del (p.Ile1768del) deletion Uncertain significance 590830 rs775161946 10:16989272-16989274 10:16947273-16947275 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.3(AMN):c.1343_1348dup (p.Gly448_Ala449dup) duplication Uncertain significance 590827 rs36040113 14:103396993-103396994 14:102930656-102930657 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.9555T>G (p.Cys3185Trp) SNV Uncertain significance 580610 rs746114034 10:16893342-16893342 10:16851343-16851343 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.3929T>C (p.Ile1310Thr) SNV Uncertain significance 830022 10:17083120-17083120 10:17041121-17041121 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.489+2_489+4dup duplication Uncertain significance 829942 10:17165582-17165583 10:17123583-17123584 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.6479A>G (p.Asp2160Gly) SNV Uncertain significance 439585 rs144704318 10:16967407-16967407 10:16925408-16925408 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.6613G>A (p.Gly2205Arg) SNV Uncertain significance 439577 rs140883483 10:16967273-16967273 10:16925274-16925274 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.1004G>A (p.Arg335His) SNV Uncertain significance 444773 rs529693736 9:93976646-93976646 9:91214364-91214364 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.10471A>G (p.Ser3491Gly) SNV Uncertain significance 522329 rs1183879233 10:16873308-16873308 10:16831309-16831309 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.9079G>A (p.Gly3027Arg) SNV Uncertain significance 522508 rs150202444 10:16918923-16918923 10:16876924-16876924 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.9053A>C (p.Tyr3018Ser) SNV Uncertain significance 522507 rs370778353 10:16918949-16918949 10:16876950-16876950 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.719C>T (p.Ala240Val) SNV Uncertain significance 529797 rs769894315 9:93983211-93983211 9:91220929-91220929 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.304T>A (p.Ser102Thr) SNV Uncertain significance 529799 rs1554721818 9:94118396-94118396 9:91356114-91356114 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.6661G>A (p.Val2221Ile) SNV Uncertain significance 532204 rs143291127 10:16962122-16962122 10:16920123-16920123 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.5580T>A (p.His1860Gln) SNV Uncertain significance 532202 rs980358703 10:16981115-16981115 10:16939116-16939116 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.3896C>G (p.Pro1299Arg) SNV Uncertain significance 532203 rs752570169 10:17083153-17083153 10:17041154-17041154 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.1558C>T (p.Arg520Trp) SNV Uncertain significance 532198 rs564637804 10:17142211-17142211 10:17100212-17100212 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.10351G>A (p.Asp3451Asn) SNV Uncertain significance 532200 rs145661638 10:16877024-16877024 10:16835025-16835025 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.942+4dup duplication Uncertain significance 529798 rs1554688047 9:93978336-93978337 9:91216054-91216055 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.8943C>T (p.Gly2981=) SNV Uncertain significance 532201 rs767131065 10:16919059-16919059 10:16877060-16877060 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.5806_5807delinsAA (p.Ser1936Asn) indel Uncertain significance 532206 rs1554796668 10:16979710-16979711 10:16937711-16937712 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.4837C>T (p.Arg1613Ter) SNV Uncertain significance 631630 rs769881615 10:16996406-16996406 10:16954407-16954407 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.10764+1G>A SNV Uncertain significance 632130 rs374982220 10:16870803-16870803 10:16828804-16828804 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.349C>A (p.Leu117Met) SNV Uncertain significance 635442 10:17168798-17168798 10:17126799-17126799 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.713T>C (p.Phe238Ser) SNV Uncertain significance 640614 9:93983217-93983217 9:91220935-91220935 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.9166G>A (p.Ala3056Thr) SNV Uncertain significance 655284 10:16916443-16916443 10:16874444-16874444 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.8711C>T (p.Ser2904Phe) SNV Uncertain significance 646070 10:16932414-16932414 10:16890415-16890415 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.8680C>G (p.Pro2894Ala) SNV Uncertain significance 658610 10:16932445-16932445 10:16890446-16890446 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.8578T>G (p.Cys2860Gly) SNV Uncertain significance 649888 10:16941015-16941015 10:16899016-16899016 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.8278A>G (p.Ile2760Val) SNV Uncertain significance 658603 10:16942756-16942756 10:16900757-16900757 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.8071G>A (p.Gly2691Arg) SNV Uncertain significance 648044 10:16943450-16943450 10:16901451-16901451 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.7403A>G (p.Tyr2468Cys) SNV Uncertain significance 656522 10:16955940-16955940 10:16913941-16913941 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.7331G>A (p.Arg2444Gln) SNV Uncertain significance 664524 10:16957051-16957051 10:16915052-16915052 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.7007G>A (p.Cys2336Tyr) SNV Uncertain significance 641354 10:16958023-16958023 10:16916024-16916024 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.6847C>T (p.Arg2283Trp) SNV Uncertain significance 644562 10:16960774-16960774 10:16918775-16918775 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.6833A>G (p.Asn2278Ser) SNV Uncertain significance 660857 10:16960788-16960788 10:16918789-16918789 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.5470G>A (p.Val1824Ile) SNV Uncertain significance 644792 10:16982109-16982109 10:16940110-16940110 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.5459A>G (p.Tyr1820Cys) SNV Uncertain significance 660402 10:16982120-16982120 10:16940121-16940121 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.3823C>T (p.Arg1275Trp) SNV Uncertain significance 664713 10:17085832-17085832 10:17043833-17043833 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.3646C>G (p.Pro1216Ala) SNV Uncertain significance 648851 10:17087032-17087032 10:17045033-17045033 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.3391A>G (p.Thr1131Ala) SNV Uncertain significance 641609 10:17088032-17088032 10:17046033-17046033 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.2929T>C (p.Phe977Leu) SNV Uncertain significance 661552 10:17110142-17110142 10:17068143-17068143 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.2822G>A (p.Gly941Glu) SNV Uncertain significance 646647 10:17110249-17110249 10:17068250-17068250 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.2810C>G (p.Thr937Arg) SNV Uncertain significance 643498 10:17110261-17110261 10:17068262-17068262 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.536G>T (p.Gly179Val) SNV Uncertain significance 648275 10:17164851-17164851 10:17122852-17122852 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.3(AMN):c.989C>A (p.Ala330Glu) SNV Uncertain significance 651339 14:103396406-103396406 14:102930069-102930069 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.10612G>A (p.Glu3538Lys) SNV Uncertain significance 583202 rs756614749 10:16870956-16870956 10:16828957-16828957 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.322A>G (p.Ser108Gly) SNV Uncertain significance 581429 rs1564526263 10:17169854-17169854 10:17127855-17127855 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.2306G>A (p.Arg769Gln) SNV Uncertain significance 567288 rs770625165 10:17113966-17113966 10:17071967-17071967 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.7390A>C (p.Thr2464Pro) SNV Uncertain significance 581546 rs769747844 10:16955953-16955953 10:16913954-16913954 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.6728C>T (p.Pro2243Leu) SNV Uncertain significance 578989 rs544059289 10:16962055-16962055 10:16920056-16920056 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.3932G>A (p.Arg1311Gln) SNV Uncertain significance 577638 rs1037514591 10:17083117-17083117 10:17041118-17041118 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.211A>C (p.Met71Leu) SNV Uncertain significance 547911 rs756127206 9:94123961-94123961 9:91361679-91361679 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.44T>A (p.Leu15Gln) SNV Uncertain significance 547843 rs757419657 9:94124128-94124128 9:91361846-91361846 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.6020C>T (p.Thr2007Met) SNV Uncertain significance 572770 rs140202552 10:16975190-16975190 10:16933191-16933191 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.1999A>G (p.Thr667Ala) SNV Uncertain significance 568981 rs141089159 10:17127707-17127707 10:17085708-17085708 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.704G>C (p.Arg235Pro) SNV Uncertain significance 579821 rs752992672 10:17157486-17157486 10:17115487-17115487 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.7107G>A (p.Gly2369=) SNV Likely benign 532210 rs145537365 10:16957923-16957923 10:16915924-16915924 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.3(AMN):c.735C>T (p.Pro245=) SNV Likely benign 532213 rs546245909 14:103395848-103395848 14:102929511-102929511 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.657G>A (p.Gly219=) SNV Likely benign 529800 rs141110052 9:93983273-93983273 9:91220991-91220991 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.6142C>G (p.Gln2048Glu) SNV Likely benign 532209 rs146995189 10:16970285-16970285 10:16928286-16928286 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.936T>C (p.Tyr312=) SNV Likely benign 516705 rs139628387 9:93978347-93978347 9:91216065-91216065 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.7587T>C (p.Ser2529=) SNV Likely benign 799701 10:16949625-16949625 10:16907626-16907626 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.4815T>C (p.Pro1605=) SNV Likely benign 798071 10:16996428-16996428 10:16954429-16954429 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.4(AMN):c.492C>G (p.Arg164=) SNV Likely benign 798651 14:103395291-103395291 14:102928954-102928954 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.4350+5G>A SNV Likely benign 800253 10:17032328-17032328 10:16990329-16990329 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.5857G>C (p.Gly1953Arg) SNV Likely benign 698526 10:16979660-16979660 10:16937661-16937661 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.813C>T (p.Pro271=) SNV Likely benign 698776 10:17156096-17156096 10:17114097-17114097 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.4(AMN):c.1348_1353GAGGCC[3] (p.450_451EA[3]) short repeat Likely benign 698419 14:103396998-103396999 14:102930661-102930662 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.4(AMN):c.843+11del deletion Likely benign 698002 14:103396084-103396084 14:102929747-102929747 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.4(AMN):c.123C>G (p.Thr41=) SNV Likely benign 727345 14:103390127-103390127 14:102923790-102923790 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.3(AUH):c.198C>T (p.Gly66=) SNV Likely benign 752653 9:94123974-94123974 9:91361692-91361692 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.3(AUH):c.117G>C (p.Ser39=) SNV Likely benign 761836 9:94124055-94124055 9:91361773-91361773 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.4(AMN):c.57G>T (p.Ala19=) SNV Likely benign 695339 14:103390061-103390061 14:102923724-102923724 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.4(AMN):c.773T>C (p.Leu258Ser) SNV Likely benign 695424 14:103396004-103396004 14:102929667-102929667 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.4(AMN):c.835C>T (p.Leu279=) SNV Likely benign 697343 14:103396066-103396066 14:102929729-102929729 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.4(AMN):c.1137G>T (p.Ala379=) SNV Likely benign 695862 14:103396632-103396632 14:102930295-102930295 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.349-8A>G SNV Likely benign 696751 10:17168806-17168806 10:17126807-17126807 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.7491G>A (p.Leu2497=) SNV Likely benign 699694 10:16955852-16955852 10:16913853-16913853 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.10002G>C (p.Gln3334His) SNV Likely benign 695383 10:16882359-16882359 10:16840360-16840360 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.9705G>A (p.Thr3235=) SNV Likely benign 695872 10:16883005-16883005 10:16841006-16841006 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.4701C>T (p.Tyr1567=) SNV Likely benign 696698 10:16996542-16996542 10:16954543-16954543 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.7971A>G (p.Pro2657=) SNV Likely benign 696925 10:16946056-16946056 10:16904057-16904057 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.7299C>T (p.Asp2433=) SNV Likely benign 697182 10:16957083-16957083 10:16915084-16915084 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.7112C>T (p.Ser2371Phe) SNV Likely benign 695689 10:16957918-16957918 10:16915919-16915919 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.807G>A (p.Arg269=) SNV Likely benign 377540 rs145208407 9:93983123-93983123 9:91220841-91220841 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.2138C>T (p.Thr713Met) SNV Likely benign 299513 rs141420691 10:17126433-17126433 10:17084434-17084434 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.2182T>C (p.Phe728Leu) SNV Benign/Likely benign 299512 rs147752521 10:17126389-17126389 10:17084390-17084390 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.5680A>G (p.Ile1894Val) SNV Benign/Likely benign 299457 rs76789390 10:16981015-16981015 10:16939016-16939016 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.6469A>G (p.Asn2157Asp) SNV Benign/Likely benign 695565 10:16967417-16967417 10:16925418-16925418 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.9125A>G (p.Asn3042Ser) SNV Benign/Likely benign 695482 10:16916484-16916484 10:16874485-16874485 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.3(AMN):c.165G>A (p.Met55Ile) SNV Benign/Likely benign 618526 rs61731158 14:103390274-103390274 14:102923937-102923937 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.4200C>T (p.Gly1400=) SNV Benign/Likely benign 695884 10:17032483-17032483 10:16990484-16990484 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.1470G>A (p.Pro490=) SNV Benign/Likely benign 695987 10:17145184-17145184 10:17103185-17103185 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.8968G>A (p.Val2990Ile) SNV Benign/Likely benign 501125 rs115888073 10:16919034-16919034 10:16877035-16877035 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.182C>A (p.Pro61His) SNV Benign/Likely benign 214144 rs181327211 9:94123990-94123990 9:91361708-91361708 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.10383C>T (p.Ser3461=) SNV Benign/Likely benign 299360 rs141937843 10:16873396-16873396 10:16831397-16831397 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.10267G>A (p.Val3423Ile) SNV Benign/Likely benign 299363 rs145872906 10:16877108-16877108 10:16835109-16835109 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.2594G>A (p.Ser865Asn) SNV Benign/Likely benign 265086 rs138083522 10:17113456-17113456 10:17071457-17071457 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.6276C>T (p.Cys2092=) SNV Benign/Likely benign 299441 rs146319349 10:16967769-16967769 10:16925770-16925770 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.6089G>A (p.Arg2030Gln) SNV Benign/Likely benign 299446 rs143400113 10:16975121-16975121 10:16933122-16933122 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.10759G>A (p.Gly3587Arg) SNV Benign/Likely benign 299356 rs201484266 10:16870809-16870809 10:16828810-16828810 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.9565A>G (p.Ile3189Val) SNV Benign/Likely benign 299378 rs111265129 10:16893332-16893332 10:16851333-16851333 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.7365T>A (p.Asp2455Glu) SNV Benign/Likely benign 299424 rs117128556 10:16955978-16955978 10:16913979-16913979 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.1794C>T (p.Tyr598=) SNV Benign/Likely benign 299521 rs140184467 10:17130316-17130316 10:17088317-17088317 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.483A>C (p.Ile161=) SNV Benign/Likely benign 128520 rs7874056 9:94087622-94087622 9:91325340-91325340 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.927A>G (p.Glu309=) SNV Benign 136473 rs78739693 9:93978356-93978356 9:91216074-91216074 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.77G>A (p.Cys26Tyr) SNV Benign 136474 rs74484860 9:94124095-94124095 9:91361813-91361813 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.3(AUH):c.*200A>G SNV Benign 914655 9:93976430-93976430 9:91214148-91214148 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.910G>A (p.Glu304Lys) SNV Benign 299535 rs78201384 10:17153023-17153023 10:17111024-17111024 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.196G>A (p.Gly66Arg) SNV Benign 299546 rs12259370 10:17171176-17171176 10:17129177-17129177 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.5304C>T (p.Ile1768=) SNV Benign 299465 rs61841454 10:16989272-16989272 10:16947273-16947273 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.6788T>G (p.Phe2263Cys) SNV Benign 299434 rs2271460 10:16961995-16961995 10:16919996-16919996 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.3522C>T (p.Gly1174=) SNV Benign 299489 rs1873469 10:17087156-17087156 10:17045157-17045157 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.2445C>T (p.Val815=) SNV Benign 299509 rs116350428 10:17113827-17113827 10:17071828-17071828 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.7724C>G (p.Pro2575Arg) SNV Benign 299419 rs3740168 10:16948390-16948390 10:16906391-16906391 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.6938A>T (p.Tyr2313Phe) SNV Benign 299432 rs140806389 10:16960683-16960683 10:16918684-16918684 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.8950A>G (p.Ile2984Val) SNV Benign 299389 rs1801239 10:16919052-16919052 10:16877053-16877053 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.8921C>T (p.Thr2974Met) SNV Benign 299390 rs374477671 10:16919081-16919081 10:16877082-16877082 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.8671G>A (p.Val2891Ile) SNV Benign 299397 rs150488625 10:16932454-16932454 10:16890455-16890455 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.5098G>A (p.Asp1700Asn) SNV Benign 299471 rs116114483 10:16990588-16990588 10:16948589-16948589 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.5518G>A (p.Gly1840Ser) SNV Benign 299459 rs2271462 10:16982061-16982061 10:16940062-16940062 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.2791+6A>C SNV Benign 299499 rs78549445 10:17110598-17110598 10:17068599-17068599 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.2571C>T (p.Asn857=) SNV Benign 299502 rs17432826 10:17113479-17113479 10:17071480-17071480 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.9491C>G (p.Ser3164Trp) SNV Benign 299380 rs57163243 10:16893406-16893406 10:16851407-16851407 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.8902G>C (p.Glu2968Gln) SNV Benign 299392 rs45569534 10:16930419-16930419 10:16888420-16888420 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.2188C>T (p.His730Tyr) SNV Benign 299511 rs7905349 10:17126383-17126383 10:17084384-17084384 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.*107A>G SNV Benign 367474 rs75505223 9:93976523-93976523 9:91214241-91214241 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.7868A>C (p.Glu2623Ala) SNV Benign 299415 rs115449747 10:16948246-16948246 10:16906247-16906247 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.5803A>G (p.Ser1935Gly) SNV Benign 299455 rs41289305 10:16979714-16979714 10:16937715-16937715 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.4872C>T (p.Ile1624=) SNV Benign 299476 rs114958584 10:16994372-16994372 10:16952373-16952373 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.8741C>T (p.Ala2914Val) SNV Benign 299395 rs45551835 10:16932384-16932384 10:16890385-16890385 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.6924A>T (p.Ser2308=) SNV Benign 299433 rs115303408 10:16960697-16960697 10:16918698-16918698 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.10039G>A (p.Gly3347Arg) SNV Benign 299371 rs146027947 10:16878375-16878375 10:16836376-16836376 3MT015 3-Methylglutaconic Aciduria, Type I AUH NM_001698.2(AUH):c.331-6G>A SNV Benign 258170 rs10991898 9:94118258-94118258 9:91355976-91355976 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.10265C>T (p.Thr3422Ile) SNV Benign 299364 rs1801230 10:16877110-16877110 10:16835111-16835111 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.9986C>T (p.Ser3329Leu) SNV Benign 532212 rs74431427 10:16882375-16882375 10:16840376-16840376 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.3(AMN):c.363G>A (p.Gly121=) SNV Benign 532207 rs141455061 14:103395162-103395162 14:102928825-102928825 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.516C>T (p.Asn172=) SNV Benign 532208 rs576450214 10:17164871-17164871 10:17122872-17122872 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.6225G>A (p.Ser2075=) SNV Benign 522510 rs75737363 10:16970202-16970202 10:16928203-16928203 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.7346T>C (p.Met2449Thr) SNV Benign 463389 rs41301097 10:16957036-16957036 10:16915037-16915037 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.3(AMN):c.296-9C>T SNV Benign 463390 rs373204347 14:103395086-103395086 14:102928749-102928749 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.3(AMN):c.829A>G (p.Thr277Ala) SNV Benign 463391 rs146499374 14:103396060-103396060 14:102929723-102929723 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.8905+137T>A SNV Benign 439578 rs780847 10:16930279-16930279 10:16888280-16888280 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.3(AMN):c.1170-37C>G SNV Benign 439403 rs148815688 14:103396706-103396706 14:102930369-102930369 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.2791+130G>A SNV Benign 439576 rs4747297 10:17110474-17110474 10:17068475-17068475 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.9340G>A (p.Gly3114Ser) SNV Benign 439584 rs117035284 10:16911749-16911749 10:16869750-16869750 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.657G>A (p.Gly219=) SNV Benign 695608 10:17157533-17157533 10:17115534-17115534 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.3292G>T (p.Ala1098Ser) SNV Benign 695483 10:17089450-17089450 10:17047451-17047451 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.2103A>G (p.Thr701=) SNV Benign 696790 10:17127603-17127603 10:17085604-17085604 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.4(AMN):c.909C>T (p.Ala303=) SNV Benign 695844 14:103396326-103396326 14:102929989-102929989 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.4(AMN):c.321T>C (p.Ser107=) SNV Benign 696073 14:103395120-103395120 14:102928783-102928783 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.4(AMN):c.324C>T (p.Asp108=) SNV Benign 695656 14:103395123-103395123 14:102928786-102928786 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.6039C>T (p.Pro2013=) SNV Benign 699668 10:16975171-16975171 10:16933172-16933172 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.4(AMN):c.208-10T>C SNV Benign 695898 14:103394753-103394753 14:102928416-102928416 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.2792-6C>G SNV Benign 696789 10:17110285-17110285 10:17068286-17068286 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.2791+9_2791+16del deletion Benign 695747 10:17110588-17110595 10:17068589-17068596 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.1947+9T>A SNV Benign 695542 10:17130154-17130154 10:17088155-17088155 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.3546G>A (p.Pro1182=) SNV Benign 751409 10:17087132-17087132 10:17045133-17045133 3MT015 3-Methylglutaconic Aciduria, Type I AMN NM_030943.4(AMN):c.93C>T (p.Asp31=) SNV Benign 699091 14:103390097-103390097 14:102923760-102923760 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.4470C>T (p.Thr1490=) SNV Benign 697458 10:17026159-17026159 10:16984160-16984160 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.10656C>T (p.Asn3552=) SNV Benign 695358 10:16870912-16870912 10:16828913-16828913 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.4671T>G (p.Leu1557=) SNV Benign 696464 10:17024507-17024507 10:16982508-16982508 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.5011A>C (p.Arg1671=) SNV Benign 695690 10:16992069-16992069 10:16950070-16950070 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.9207C>A (p.Thr3069=) SNV Benign 697026 10:16916402-16916402 10:16874403-16874403 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.9206C>T (p.Thr3069Ile) SNV Benign 697027 10:16916403-16916403 10:16874404-16874404 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.9204C>T (p.Ile3068=) SNV Benign 697028 10:16916405-16916405 10:16874406-16874406 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.4(CUBN):c.9987G>A (p.Ser3329=) SNV Benign 695743 10:16882374-16882374 10:16840375-16840375 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.3752G>C (p.Ser1251Thr) SNV Benign 299486 rs115048360 10:17085903-17085903 10:17043904-17043904 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.6997A>G (p.Ile2333Val) SNV Benign 299431 rs149507036 10:16960624-16960624 10:16918625-16918625 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.1003G>A (p.Ala335Thr) SNV Benign 299531 rs57335729 10:17152930-17152930 10:17110931-17110931 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.758T>C (p.Phe253Ser) SNV Benign 299538 rs1801222 10:17156151-17156151 10:17114152-17114152 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.963C>T (p.Pro321=) SNV Benign 299532 rs150309054 10:17152970-17152970 10:17110971-17110971 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.7646C>T (p.Thr2549Met) SNV not provided 441098 rs537292240 10:16949566-16949566 10:16907567-16907567 3MT015 3-Methylglutaconic Aciduria, Type I CUBN NM_001081.3(CUBN):c.1000C>T (p.Gln334Ter) SNV not provided 208187 rs561240556 10:17152933-17152933 10:17110934-17110934 3MT015 3-Methylglutaconic Aciduria, Type I FMO5 GRCh37/hg19 1q21.1-21.2(chr1:146618988-147824207) copy number gain Pathogenic 523244 1:146618988-147824207 3MT016 3-Methylglutaconic Aciduria, Type Iii GJA5 GRCh37/hg19 1q21.1-21.2(chr1:146618988-147824207) copy number gain Pathogenic 523244 1:146618988-147824207 3MT016 3-Methylglutaconic Aciduria, Type Iii GJA8 GRCh37/hg19 1q21.1-21.2(chr1:146618988-147824207) copy number gain Pathogenic 523244 1:146618988-147824207 3MT016 3-Methylglutaconic Aciduria, Type Iii GPR89B GRCh37/hg19 1q21.1-21.2(chr1:146618988-147824207) copy number gain Pathogenic 523244 1:146618988-147824207 3MT016 3-Methylglutaconic Aciduria, Type Iii PRKAB2 GRCh37/hg19 1q21.1-21.2(chr1:146618988-147824207) copy number gain Pathogenic 523244 1:146618988-147824207 3MT016 3-Methylglutaconic Aciduria, Type Iii ACP6 GRCh37/hg19 1q21.1-21.2(chr1:146618988-147824207) copy number gain Pathogenic 523244 1:146618988-147824207 3MT016 3-Methylglutaconic Aciduria, Type Iii BCL9 GRCh37/hg19 1q21.1-21.2(chr1:146618988-147824207) copy number gain Pathogenic 523244 1:146618988-147824207 3MT016 3-Methylglutaconic Aciduria, Type Iii CHD1L GRCh37/hg19 1q21.1-21.2(chr1:146618988-147824207) copy number gain Pathogenic 523244 1:146618988-147824207 3MT016 3-Methylglutaconic Aciduria, Type Iii AFG3L2 NM_006796.2(AFG3L2):c.1402C>T (p.Arg468Cys) SNV Pathogenic 565275 rs1020764190 18:12351329-12351329 18:12351330-12351330 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NC_000019.10:g.(?_45584613)_(45584774_?)del deletion Pathogenic 831267 19:46087871-46088032 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.143-1G>C SNV Pathogenic 4239 rs80356523 19:46057170-46057170 19:45553912-45553912 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.313C>G (p.Gln105Glu) SNV Pathogenic 4241 rs80356525 19:46056999-46056999 19:45553741-45553741 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.322_339del (p.Gln108_Glu113del) deletion Pathogenic 4242 rs80356526 19:46056973-46056990 19:45553715-45553732 3MT016 3-Methylglutaconic Aciduria, Type Iii PMPCA NM_015160.3(PMPCA):c.1066G>A (p.Gly356Ser) SNV Pathogenic 221553 rs768643552 9:139313082-139313082 9:136418630-136418630 3MT016 3-Methylglutaconic Aciduria, Type Iii PMPCA NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr) SNV Pathogenic 221552 rs753611141 9:139313299-139313299 9:136418847-136418847 3MT016 3-Methylglutaconic Aciduria, Type Iii MECR NM_016011.4(MECR):c.772C>T (p.Arg258Trp) SNV Pathogenic 374882 rs145192716 1:29527086-29527086 1:29200574-29200574 3MT016 3-Methylglutaconic Aciduria, Type Iii MECR NM_016011.5(MECR):c.247_250del (p.Asn83fs) deletion Pathogenic 374883 rs1057519287 1:29543124-29543127 1:29216612-29216615 3MT016 3-Methylglutaconic Aciduria, Type Iii MECR NM_016011.5(MECR):c.855T>G (p.Tyr285Ter) SNV Pathogenic/Likely pathogenic 374879 rs1057519286 1:29522746-29522746 1:29196234-29196234 3MT016 3-Methylglutaconic Aciduria, Type Iii MECR NM_016011.5(MECR):c.854A>G (p.Tyr285Cys) SNV Pathogenic/Likely pathogenic 374881 rs759218713 1:29522747-29522747 1:29196235-29196235 3MT016 3-Methylglutaconic Aciduria, Type Iii ISCA2 NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser) SNV Pathogenic/Likely pathogenic 183353 rs730882246 14:74961032-74961032 14:74494329-74494329 3MT016 3-Methylglutaconic Aciduria, Type Iii PIGQ NM_004204.4(PIGQ):c.619C>T (p.Arg207Ter) SNV Pathogenic/Likely pathogenic 183339 rs730882240 16:624693-624693 16:574693-574693 3MT016 3-Methylglutaconic Aciduria, Type Iii MECR NM_016011.5(MECR):c.830+2dup duplication Pathogenic/Likely pathogenic 449055 rs756421370 1:29527026-29527026 1:29200513-29200514 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.142+1G>A SNV Likely pathogenic 552448 rs1555736793 19:46087880-46087880 19:45584622-45584622 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.217dup (p.Glu73fs) duplication Likely pathogenic 554806 rs1555732963 19:46057094-46057095 19:45553836-45553837 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.100dup (p.Ser34fs) duplication Likely pathogenic 557484 rs1555736803 19:46087922-46087923 19:45584664-45584665 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.61A>T (p.Lys21Ter) SNV Likely pathogenic 555674 rs1555736814 19:46087962-46087962 19:45584704-45584704 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.254G>A (p.Gly85Asp) SNV Likely pathogenic 807645 19:46057058-46057058 19:45553800-45553800 3MT016 3-Methylglutaconic Aciduria, Type Iii MYCN NC_000002.11:g.15744252_17675820del deletion Likely pathogenic 812922 2:15744252-17675820 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NC_000019.10:g.(?_45553504)_(45553921_?)del deletion Likely pathogenic 830708 19:46056762-46057179 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.415C>T (p.Gln139Ter) SNV Likely pathogenic 21710 rs28937899 19:46056897-46056897 19:45553639-45553639 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.539A>G (p.Ter180Trp) SNV Likely pathogenic 370448 rs1057516497 19:46056773-46056773 19:45553515-45553515 3MT016 3-Methylglutaconic Aciduria, Type Iii OAT NM_000274.3(OAT):c.875A>G (p.Lys292Arg) SNV Likely pathogenic 374146 rs1057518927 10:126091521-126091521 10:124402952-124402952 3MT016 3-Methylglutaconic Aciduria, Type Iii MECR NM_016011.5(MECR):c.695G>A (p.Gly232Glu) SNV Likely pathogenic 374878 rs762913101 1:29528516-29528516 1:29202004-29202004 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_001017989.2(OPA3):c.-113T>C SNV Conflicting interpretations of pathogenicity 369268 rs139731330 19:46088135-46088135 19:45584877-45584877 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*398G>T SNV Conflicting interpretations of pathogenicity 329676 rs183851663 19:46056374-46056374 19:45553116-45553116 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*80G>T SNV Conflicting interpretations of pathogenicity 329683 rs540023428 19:46056692-46056692 19:45553434-45553434 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*422C>T SNV Conflicting interpretations of pathogenicity 329674 rs116977551 19:46056350-46056350 19:45553092-45553092 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*6767G>A SNV Conflicting interpretations of pathogenicity 329558 rs142898530 19:46050005-46050005 19:45546747-45546747 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*6442A>G SNV Conflicting interpretations of pathogenicity 329563 rs76825983 19:46050330-46050330 19:45547072-45547072 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*6289A>G SNV Conflicting interpretations of pathogenicity 329567 rs182293743 19:46050483-46050483 19:45547225-45547225 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*6208C>T SNV Conflicting interpretations of pathogenicity 329570 rs139798464 19:46050564-46050564 19:45547306-45547306 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*1642A>G SNV Conflicting interpretations of pathogenicity 329653 rs144894771 19:46055130-46055130 19:45551872-45551872 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3884G>A SNV Conflicting interpretations of pathogenicity 329615 rs187028696 19:46052888-46052888 19:45549630-45549630 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4439C>T SNV Conflicting interpretations of pathogenicity 329607 rs538388889 19:46052333-46052333 19:45549075-45549075 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*2008C>T SNV Conflicting interpretations of pathogenicity 329646 rs144432336 19:46054764-46054764 19:45551506-45551506 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*1238G>A SNV Conflicting interpretations of pathogenicity 329659 rs187216413 19:46055534-46055534 19:45552276-45552276 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*1095C>A SNV Conflicting interpretations of pathogenicity 329661 rs148228876 19:46055677-46055677 19:45552419-45552419 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*1836C>T SNV Conflicting interpretations of pathogenicity 329650 rs74717111 19:46054936-46054936 19:45551678-45551678 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*5944G>A SNV Conflicting interpretations of pathogenicity 329575 rs190885103 19:46050828-46050828 19:45547570-45547570 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*6688G>A SNV Conflicting interpretations of pathogenicity 329559 rs181576269 19:46050084-46050084 19:45546826-45546826 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*2101A>T SNV Conflicting interpretations of pathogenicity 329644 rs139606810 19:46054671-46054671 19:45551413-45551413 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4696_*4699ATAA[8] short repeat Conflicting interpretations of pathogenicity 329598 rs58537694 19:46052048-46052049 19:45548790-45548791 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3360G>A SNV Conflicting interpretations of pathogenicity 329625 rs545764728 19:46053412-46053412 19:45550154-45550154 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3117C>T SNV Conflicting interpretations of pathogenicity 329630 rs569595277 19:46053655-46053655 19:45550397-45550397 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*2518A>G SNV Conflicting interpretations of pathogenicity 329639 rs565012397 19:46054254-46054254 19:45550996-45550996 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser) SNV Conflicting interpretations of pathogenicity 214929 rs140959406 19:46032673-46032673 19:45529415-45529415 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*1052C>T SNV Conflicting interpretations of pathogenicity 894552 19:46055720-46055720 19:45552462-45552462 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*698G>A SNV Conflicting interpretations of pathogenicity 893345 19:46056074-46056074 19:45552816-45552816 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*540G>T SNV Conflicting interpretations of pathogenicity 894588 19:46056232-46056232 19:45552974-45552974 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*7181G>A SNV Conflicting interpretations of pathogenicity 329551 rs74253369 19:46049591-46049591 19:45546333-45546333 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*5783G>A SNV Conflicting interpretations of pathogenicity 329579 rs550679720 19:46050989-46050989 19:45547731-45547731 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4954C>T SNV Conflicting interpretations of pathogenicity 329590 rs146646433 19:46051818-46051818 19:45548560-45548560 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4949G>A SNV Conflicting interpretations of pathogenicity 329591 rs544881797 19:46051823-46051823 19:45548565-45548565 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*6626G>A SNV Conflicting interpretations of pathogenicity 893857 19:46050146-46050146 19:45546888-45546888 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*6554G>A SNV Conflicting interpretations of pathogenicity 894772 19:46050218-46050218 19:45546960-45546960 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*5923G>A SNV Conflicting interpretations of pathogenicity 894279 19:46050849-46050849 19:45547591-45547591 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*6101A>G SNV Conflicting interpretations of pathogenicity 893885 19:46050671-46050671 19:45547413-45547413 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*5565C>T SNV Conflicting interpretations of pathogenicity 894307 19:46051207-46051207 19:45547949-45547949 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3442A>G SNV Conflicting interpretations of pathogenicity 894416 19:46053330-46053330 19:45550072-45550072 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3128C>G SNV Conflicting interpretations of pathogenicity 894045 19:46053644-46053644 19:45550386-45550386 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*1761A>T SNV Conflicting interpretations of pathogenicity 894123 19:46055011-46055011 19:45551753-45551753 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*7018G>C SNV Conflicting interpretations of pathogenicity 892756 19:46049754-46049754 19:45546496-45546496 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*5277G>A SNV Conflicting interpretations of pathogenicity 892853 19:46051495-46051495 19:45548237-45548237 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.478C>T (p.Arg160Cys) SNV Conflicting interpretations of pathogenicity 449077 rs137978109 19:46056834-46056834 19:45553576-45553576 3MT016 3-Methylglutaconic Aciduria, Type Iii ND4 NC_012920.1:m.11443A>C SNV Uncertain significance 523305 rs1556423952 MT:11443-11443 MT:11443-11443 3MT016 3-Methylglutaconic Aciduria, Type Iii ELP1 GRCh37/hg19 9q31.3(chr9:111624558-111812725) copy number gain Uncertain significance 523243 9:111624558-111812725 3MT016 3-Methylglutaconic Aciduria, Type Iii MIR32 GRCh37/hg19 9q31.3(chr9:111624558-111812725) copy number gain Uncertain significance 523243 9:111624558-111812725 3MT016 3-Methylglutaconic Aciduria, Type Iii TMEM245 GRCh37/hg19 9q31.3(chr9:111624558-111812725) copy number gain Uncertain significance 523243 9:111624558-111812725 3MT016 3-Methylglutaconic Aciduria, Type Iii ABITRAM GRCh37/hg19 9q31.3(chr9:111624558-111812725) copy number gain Uncertain significance 523243 9:111624558-111812725 3MT016 3-Methylglutaconic Aciduria, Type Iii ACTL7A GRCh37/hg19 9q31.3(chr9:111624558-111812725) copy number gain Uncertain significance 523243 9:111624558-111812725 3MT016 3-Methylglutaconic Aciduria, Type Iii CTNNAL1 GRCh37/hg19 9q31.3(chr9:111624558-111812725) copy number gain Uncertain significance 523243 9:111624558-111812725 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.2_4TGG[2] (p.Val3del) short repeat Uncertain significance 556289 rs1555736840 19:46088013-46088015 19:45584755-45584757 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_001017989.3(OPA3):c.380del (p.Gly127fs) deletion Uncertain significance 552985 rs1555730165 19:46032477-46032477 19:45529219-45529219 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_001017989.3(OPA3):c.268_270del (p.Phe90del) deletion Uncertain significance 558222 rs755084544 19:46032587-46032589 19:45529329-45529331 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.-7C>G SNV Uncertain significance 552269 rs199590627 19:46088029-46088029 19:45584771-45584771 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_001017989.3(OPA3):c.217G>T (p.Glu73Ter) SNV Uncertain significance 552302 rs759861826 19:46032640-46032640 19:45529382-45529382 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.487C>T (p.Leu163Phe) SNV Uncertain significance 556177 rs780492515 19:46056825-46056825 19:45553567-45553567 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.419_424dup (p.Val140_Gln141dup) duplication Uncertain significance 557780 rs1363616568 19:46056887-46056888 19:45553629-45553630 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.248_251dup (p.Gly85fs) duplication Uncertain significance 557368 rs1555732942 19:46057060-46057061 19:45553802-45553803 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_001017989.3(OPA3):c.436C>T (p.Gln146Ter) SNV Uncertain significance 557552 rs1555730159 19:46032421-46032421 19:45529163-45529163 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_001017989.3(OPA3):c.313C>T (p.Gln105Ter) SNV Uncertain significance 552615 rs1225701554 19:46032544-46032544 19:45529286-45529286 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.142+2_142+3dup duplication Uncertain significance 531189 rs1555736791 19:46087877-46087878 19:45584619-45584620 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_001017989.3(OPA3):c.542_543del (p.Lys180_Ter181insTer) deletion Uncertain significance 549882 rs1555730133 19:46032314-46032315 19:45529056-45529057 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_001017989.3(OPA3):c.535delinsAA (p.Glu179fs) indel Uncertain significance 549872 rs1555730141 19:46032322-46032322 19:45529064-45529064 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_001017989.3(OPA3):c.448G>T (p.Glu150Ter) SNV Uncertain significance 549864 rs1555730157 19:46032409-46032409 19:45529151-45529151 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_001017989.3(OPA3):c.445del (p.Leu149fs) deletion Uncertain significance 549871 rs780299639 19:46032412-46032412 19:45529154-45529154 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_001017989.3(OPA3):c.421C>T (p.Gln141Ter) SNV Uncertain significance 549885 rs374175877 19:46032436-46032436 19:45529178-45529178 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_001017989.3(OPA3):c.415C>T (p.Gln139Ter) SNV Uncertain significance 549877 rs762180740 19:46032442-46032442 19:45529184-45529184 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_001017989.3(OPA3):c.232G>T (p.Glu78Ter) SNV Uncertain significance 549884 rs763348163 19:46032625-46032625 19:45529367-45529367 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_001017989.3(OPA3):c.541T>C (p.Ter181Gln) SNV Uncertain significance 553316 rs1555730136 19:46032316-46032316 19:45529058-45529058 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_001017989.3(OPA3):c.444_448del (p.Leu149fs) deletion Uncertain significance 557228 rs1555730158 19:46032409-46032413 19:45529151-45529155 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_001017989.3(OPA3):c.343C>T (p.Arg115Ter) SNV Uncertain significance 555209 rs762247018 19:46032514-46032514 19:45529256-45529256 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_001017989.3(OPA3):c.256G>T (p.Glu86Ter) SNV Uncertain significance 553246 rs780614894 19:46032601-46032601 19:45529343-45529343 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_001017989.3(OPA3):c.221del (p.Gly74fs) deletion Uncertain significance 552346 rs779350552 19:46032636-46032636 19:45529378-45529378 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.470_478del (p.Gln157_Val159del) deletion Uncertain significance 558055 rs745544229 19:46056834-46056842 19:45553576-45553584 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.431del (p.Pro144fs) deletion Uncertain significance 556964 rs1205708262 19:46056881-46056881 19:45553623-45553623 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.334del (p.Glu112fs) deletion Uncertain significance 553042 rs1555732911 19:46056978-46056978 19:45553720-45553720 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.331_333del (p.Lys111del) deletion Uncertain significance 552710 rs1353357190 19:46056979-46056981 19:45553721-45553723 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.142+5G>C SNV Uncertain significance 553096 rs1250409781 19:46087876-46087876 19:45584618-45584618 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_001017989.3(OPA3):c.542A>G (p.Ter181Trp) SNV Uncertain significance 557243 rs375580763 19:46032315-46032315 19:45529057-45529057 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*5045C>T SNV Uncertain significance 893665 19:46051727-46051727 19:45548469-45548469 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*5013A>G SNV Uncertain significance 893666 19:46051759-46051759 19:45548501-45548501 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4975C>T SNV Uncertain significance 893667 19:46051797-46051797 19:45548539-45548539 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4846A>T SNV Uncertain significance 894340 19:46051926-46051926 19:45548668-45548668 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4773A>G SNV Uncertain significance 894341 19:46051999-46051999 19:45548741-45548741 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4771C>G SNV Uncertain significance 894342 19:46052001-46052001 19:45548743-45548743 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4763C>A SNV Uncertain significance 892895 19:46052009-46052009 19:45548751-45548751 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4618G>A SNV Uncertain significance 892896 19:46052154-46052154 19:45548896-45548896 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4372G>A SNV Uncertain significance 893975 19:46052400-46052400 19:45549142-45549142 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4241C>T SNV Uncertain significance 894373 19:46052531-46052531 19:45549273-45549273 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4233G>A SNV Uncertain significance 894374 19:46052539-46052539 19:45549281-45549281 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3804G>A SNV Uncertain significance 893165 19:46052968-46052968 19:45549710-45549710 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3754C>T SNV Uncertain significance 893166 19:46053018-46053018 19:45549760-45549760 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3669G>T SNV Uncertain significance 894009 19:46053103-46053103 19:45549845-45549845 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3644C>T SNV Uncertain significance 894010 19:46053128-46053128 19:45549870-45549870 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3570C>T SNV Uncertain significance 894011 19:46053202-46053202 19:45549944-45549944 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3472G>A SNV Uncertain significance 894415 19:46053300-46053300 19:45550042-45550042 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*6766C>T SNV Uncertain significance 893563 19:46050006-46050006 19:45546748-45546748 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*6698G>T SNV Uncertain significance 893856 19:46050074-46050074 19:45546816-45546816 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*7183G>A SNV Uncertain significance 894743 19:46049589-46049589 19:45546331-45546331 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*7072A>T SNV Uncertain significance 894744 19:46049700-46049700 19:45546442-45546442 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_001017989.3(OPA3):c.464_467dup (p.Gln157fs) duplication Uncertain significance 659433 19:46032389-46032390 19:45529131-45529132 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.305_322dup (p.Gln108_Arg109insArgArgHisGlnAlaGln) duplication Uncertain significance 656181 19:46056989-46056990 19:45553731-45553732 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*1693C>T SNV Uncertain significance 894124 19:46055079-46055079 19:45551821-45551821 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*1614C>T SNV Uncertain significance 894517 19:46055158-46055158 19:45551900-45551900 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*1496C>T SNV Uncertain significance 894518 19:46055276-46055276 19:45552018-45552018 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*1462C>T SNV Uncertain significance 893096 19:46055310-46055310 19:45552052-45552052 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*1214G>A SNV Uncertain significance 893303 19:46055558-46055558 19:45552300-45552300 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*1193A>G SNV Uncertain significance 893304 19:46055579-46055579 19:45552321-45552321 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*1070C>T SNV Uncertain significance 894147 19:46055702-46055702 19:45552444-45552444 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*1063G>A SNV Uncertain significance 894551 19:46055709-46055709 19:45552451-45552451 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*2964T>C SNV Uncertain significance 894445 19:46053808-46053808 19:45550550-45550550 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*2859A>T SNV Uncertain significance 893014 19:46053913-46053913 19:45550655-45550655 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*2726G>C SNV Uncertain significance 893015 19:46054046-46054046 19:45550788-45550788 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*2662G>A SNV Uncertain significance 893236 19:46054110-46054110 19:45550852-45550852 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*2620C>A SNV Uncertain significance 893237 19:46054152-46054152 19:45550894-45550894 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*2198C>T SNV Uncertain significance 894478 19:46054574-46054574 19:45551316-45551316 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*2188G>A SNV Uncertain significance 894479 19:46054584-46054584 19:45551326-45551326 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*2041C>G SNV Uncertain significance 893055 19:46054731-46054731 19:45551473-45551473 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3358C>G SNV Uncertain significance 892973 19:46053414-46053414 19:45550156-45550156 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3350T>G SNV Uncertain significance 893195 19:46053422-46053422 19:45550164-45550164 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3295C>G SNV Uncertain significance 893196 19:46053477-46053477 19:45550219-45550219 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3245C>T SNV Uncertain significance 893197 19:46053527-46053527 19:45550269-45550269 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3156G>T SNV Uncertain significance 894044 19:46053616-46053616 19:45550358-45550358 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*5510G>A SNV Uncertain significance 894308 19:46051262-46051262 19:45548004-45548004 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*6046G>A SNV Uncertain significance 893886 19:46050726-46050726 19:45547468-45547468 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*5730C>T SNV Uncertain significance 893630 19:46051042-46051042 19:45547784-45547784 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*5660A>G SNV Uncertain significance 893916 19:46051112-46051112 19:45547854-45547854 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*5644A>G SNV Uncertain significance 893917 19:46051128-46051128 19:45547870-45547870 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*5570C>T SNV Uncertain significance 893918 19:46051202-46051202 19:45547944-45547944 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*6361G>A SNV Uncertain significance 892795 19:46050411-46050411 19:45547153-45547153 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*6124C>T SNV Uncertain significance 893884 19:46050648-46050648 19:45547390-45547390 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*5774G>C SNV Uncertain significance 329581 rs886054510 19:46050998-46050998 19:45547740-45547740 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*5496C>T SNV Uncertain significance 329586 rs886054511 19:46051276-46051276 19:45548018-45548018 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*6674T>C SNV Uncertain significance 329560 rs534603782 19:46050098-46050098 19:45546840-45546840 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3496C>G SNV Uncertain significance 329623 rs749084024 19:46053276-46053276 19:45550018-45550018 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4853T>A SNV Uncertain significance 329595 rs886054516 19:46051919-46051919 19:45548661-45548661 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*2896G>A SNV Uncertain significance 329633 rs190488484 19:46053876-46053876 19:45550618-45550618 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.123C>G (p.Ile41Met) SNV Uncertain significance 894212 19:46087900-46087900 19:45584642-45584642 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.94C>A (p.Arg32Ser) SNV Uncertain significance 894615 19:46087929-46087929 19:45584671-45584671 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*690G>T SNV Uncertain significance 893346 19:46056082-46056082 19:45552824-45552824 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*1018A>G SNV Uncertain significance 894553 19:46055754-46055754 19:45552496-45552496 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*964G>A SNV Uncertain significance 894554 19:46055808-46055808 19:45552550-45552550 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*761C>T SNV Uncertain significance 893127 19:46056011-46056011 19:45552753-45552753 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*742A>T SNV Uncertain significance 893128 19:46056030-46056030 19:45552772-45552772 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*2089T>C SNV Uncertain significance 329645 rs886054529 19:46054683-46054683 19:45551425-45551425 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*1863T>G SNV Uncertain significance 329648 rs769185702 19:46054909-46054909 19:45551651-45551651 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*2714C>T SNV Uncertain significance 329634 rs781539538 19:46054058-46054058 19:45550800-45550800 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*2702G>T SNV Uncertain significance 329635 rs886054526 19:46054070-46054070 19:45550812-45550812 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3278C>T SNV Uncertain significance 329627 rs770317628 19:46053494-46053494 19:45550236-45550236 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4712del deletion Uncertain significance 329601 rs886054518 19:46052060-46052060 19:45548802-45548802 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4585C>T SNV Uncertain significance 329604 rs886054520 19:46052187-46052187 19:45548929-45548929 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4026dup duplication Uncertain significance 329611 rs879119658 19:46052745-46052746 19:45549487-45549488 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3891C>T SNV Uncertain significance 329614 rs752997579 19:46052881-46052881 19:45549623-45549623 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*1799A>G SNV Uncertain significance 329651 rs886054530 19:46054973-46054973 19:45551715-45551715 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA1 NM_015560.2(OPA1):c.1712G>A (p.Arg571His) SNV Uncertain significance 167405 rs140606054 3:193365865-193365865 3:193648076-193648076 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*6072A>G SNV Uncertain significance 329573 rs576104602 19:46050700-46050700 19:45547442-45547442 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*5873C>T SNV Uncertain significance 329578 rs886054509 19:46050899-46050899 19:45547641-45547641 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*5774G>T SNV Uncertain significance 329580 rs886054510 19:46050998-46050998 19:45547740-45547740 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*5597C>T SNV Uncertain significance 329583 rs560019290 19:46051175-46051175 19:45547917-45547917 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*5357G>A SNV Uncertain significance 329587 rs549141863 19:46051415-46051415 19:45548157-45548157 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4919_*4921del deletion Uncertain significance 329592 rs886054514 19:46051851-46051853 19:45548593-45548595 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*6570G>C SNV Uncertain significance 329561 rs773109015 19:46050202-46050202 19:45546944-45546944 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*5258A>G SNV Uncertain significance 329588 rs886054512 19:46051514-46051514 19:45548256-45548256 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4969C>G SNV Uncertain significance 329589 rs886054513 19:46051803-46051803 19:45548545-45548545 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4862_*4865del deletion Uncertain significance 329593 rs886054515 19:46051907-46051910 19:45548649-45548652 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*5739C>T SNV Uncertain significance 329582 rs375835737 19:46051033-46051033 19:45547775-45547775 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*6902G>A SNV Uncertain significance 329555 rs528812143 19:46049870-46049870 19:45546612-45546612 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*6773G>T SNV Uncertain significance 329557 rs886054504 19:46049999-46049999 19:45546741-45546741 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*6461C>T SNV Uncertain significance 329562 rs886054505 19:46050311-46050311 19:45547053-45547053 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*6436_*6437insG insertion Uncertain significance 329564 rs886054506 19:46050335-46050336 19:45547077-45547078 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*1478A>G SNV Uncertain significance 329654 rs886054531 19:46055294-46055294 19:45552036-45552036 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*322A>G SNV Uncertain significance 329679 rs886054539 19:46056450-46056450 19:45553192-45553192 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*302C>T SNV Uncertain significance 329680 rs886054540 19:46056470-46056470 19:45553212-45553212 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*1076A>G SNV Uncertain significance 329663 rs886054533 19:46055696-46055696 19:45552438-45552438 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*986dup duplication Uncertain significance 329664 rs377547137 19:46055785-46055786 19:45552527-45552528 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*713C>G SNV Uncertain significance 329668 rs143735864 19:46056059-46056059 19:45552801-45552801 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*649C>T SNV Uncertain significance 329670 rs886054537 19:46056123-46056123 19:45552865-45552865 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4696_*4699ATAA[9] short repeat Uncertain significance 329599 rs58537694 19:46052048-46052049 19:45548790-45548791 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4586G>A SNV Uncertain significance 329603 rs886054519 19:46052186-46052186 19:45548928-45548928 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4521G>A SNV Uncertain significance 329605 rs886054521 19:46052251-46052251 19:45548993-45548993 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4419C>T SNV Uncertain significance 329608 rs886054523 19:46052353-46052353 19:45549095-45549095 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3845C>T SNV Uncertain significance 329618 rs886054525 19:46052927-46052927 19:45549669-45549669 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3755G>A SNV Uncertain significance 329619 rs555830952 19:46053017-46053017 19:45549759-45549759 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3581C>T SNV Uncertain significance 329621 rs576070088 19:46053191-46053191 19:45549933-45549933 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*2545G>A SNV Uncertain significance 329638 rs886054528 19:46054227-46054227 19:45550969-45550969 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*2490C>T SNV Uncertain significance 329640 rs11671670 19:46054282-46054282 19:45551024-45551024 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*1213C>T SNV Uncertain significance 329660 rs539298843 19:46055559-46055559 19:45552301-45552301 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*677C>T SNV Uncertain significance 329669 rs560749495 19:46056095-46056095 19:45552837-45552837 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*324_*325GT[1] short repeat Uncertain significance 329678 rs571672143 19:46056445-46056446 19:45553187-45553188 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.3(OPA3):c.-47_-40delGCCCCGCC deletion Uncertain significance 329686 rs886054542 19:46088062-46088069 19:45584804-45584811 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.3(OPA3):c.-96A>G SNV Uncertain significance 329689 rs566870092 19:46088118-46088118 19:45584860-45584860 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*7096_*7100del deletion Uncertain significance 329552 rs565521231 19:46049672-46049676 19:45546414-45546418 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*821A>T SNV Uncertain significance 329667 rs886054536 19:46055951-46055951 19:45552693-45552693 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4026del deletion Uncertain significance 329612 rs879119658 19:46052746-46052746 19:45549488-45549488 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*2590G>T SNV Uncertain significance 329637 rs886054527 19:46054182-46054182 19:45550924-45550924 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*1091C>G SNV Uncertain significance 329662 rs557691359 19:46055681-46055681 19:45552423-45552423 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*922G>T SNV Uncertain significance 329666 rs886054535 19:46055850-46055850 19:45552592-45552592 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4696_*4699ATAA[6] short repeat Uncertain significance 329600 rs58537694 19:46052049-46052052 19:45548791-45548794 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4464G>T SNV Uncertain significance 329606 rs886054522 19:46052308-46052308 19:45549050-45549050 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*6125G>A SNV Uncertain significance 329571 rs780617440 19:46050647-46050647 19:45547389-45547389 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*5888C>T SNV Uncertain significance 329577 rs886054508 19:46050884-46050884 19:45547626-45547626 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*6278G>A SNV Uncertain significance 329568 rs886054507 19:46050494-46050494 19:45547236-45547236 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*50_*52del deletion Uncertain significance 329684 rs886054541 19:46056720-46056722 19:45553462-45553464 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.444C>T (p.Ala148=) SNV Uncertain significance 329685 rs759536853 19:46056868-46056868 19:45553610-45553610 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*545G>T SNV Uncertain significance 329673 rs886054538 19:46056227-46056227 19:45552969-45552969 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*420A>G SNV Uncertain significance 329675 rs868102539 19:46056352-46056352 19:45553094-45553094 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*1254A>C SNV Uncertain significance 329658 rs886054532 19:46055518-46055518 19:45552260-45552260 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_001017989.3(OPA3):c.143-16812G>A SNV Uncertain significance 369267 rs192699227 19:46049526-46049526 19:45546268-45546268 3MT016 3-Methylglutaconic Aciduria, Type Iii COX1 NC_012920.1:m.7373A>G SNV Uncertain significance 370048 rs1057516060 MT:7373-7373 MT:7373-7373 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*2696C>G SNV Likely benign 329636 rs148705681 19:46054076-46054076 19:45550818-45550818 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*6104_*6105del deletion Likely benign 329572 rs142661638 19:46050667-46050668 19:45547409-45547410 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*2143_*2144del deletion Likely benign 329643 rs532263532 19:46054628-46054629 19:45551370-45551371 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3343_*3347TCTTT[2] short repeat Likely benign 329626 rs373580645 19:46053415-46053419 19:45550157-45550161 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.252G>A (p.Leu84=) SNV Likely benign 726615 19:46057060-46057060 19:45553802-45553802 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.405G>A (p.Ala135=) SNV Likely benign 766391 19:46056907-46056907 19:45553649-45553649 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.249G>C (p.Leu83=) SNV Likely benign 760690 19:46057063-46057063 19:45553805-45553805 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.213G>A (p.Leu71=) SNV Likely benign 763629 19:46057099-46057099 19:45553841-45553841 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.39C>T (p.Tyr13=) SNV Likely benign 757675 19:46087984-46087984 19:45584726-45584726 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.429G>A (p.Ala143=) SNV Likely benign 796076 19:46056883-46056883 19:45553625-45553625 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.237G>C (p.Leu79=) SNV Likely benign 792786 19:46057075-46057075 19:45553817-45553817 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.120T>C (p.Tyr40=) SNV Likely benign 794268 19:46087903-46087903 19:45584645-45584645 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.367C>A (p.Arg123=) SNV Likely benign 462147 rs1022155897 19:46056945-46056945 19:45553687-45553687 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3222C>T SNV Benign/Likely benign 329628 rs73568980 19:46053550-46053550 19:45550292-45550292 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.412G>A (p.Ala138Thr) SNV Benign/Likely benign 280981 rs201574732 19:46056900-46056900 19:45553642-45553642 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.-38A>G SNV Benign/Likely benign 138572 rs45527139 19:46088060-46088060 19:45584802-45584802 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*1855T>C SNV Benign/Likely benign 329649 rs146599259 19:46054917-46054917 19:45551659-45551659 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4794C>T SNV Benign/Likely benign 329597 rs114917731 19:46051978-46051978 19:45548720-45548720 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*6394G>A SNV Benign/Likely benign 329565 rs151030695 19:46050378-46050378 19:45547120-45547120 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*6294A>C SNV Benign/Likely benign 329566 rs114655581 19:46050478-46050478 19:45547220-45547220 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*7085A>G SNV Benign/Likely benign 329553 rs67373144 19:46049687-46049687 19:45546429-45546429 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*1340C>T SNV Benign/Likely benign 329656 rs12104391 19:46055432-46055432 19:45552174-45552174 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*5905G>A SNV Benign/Likely benign 329576 rs116705343 19:46050867-46050867 19:45547609-45547609 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*2469G>A SNV Benign/Likely benign 329642 rs115566341 19:46054303-46054303 19:45551045-45551045 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*1760C>T SNV Benign/Likely benign 329652 rs75401979 19:46055012-46055012 19:45551754-45551754 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*362T>C SNV Benign/Likely benign 329677 rs73942919 19:46056410-46056410 19:45553152-45553152 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.537A>G (p.Lys179=) SNV Benign/Likely benign 386291 rs140105522 19:46056775-46056775 19:45553517-45553517 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.3(OPA3):c.-75G>A SNV Benign 329687 rs45598532 19:46088097-46088097 19:45584839-45584839 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.3(OPA3):c.-86G>A SNV Benign 329688 rs73570932 19:46088108-46088108 19:45584850-45584850 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*272G>A SNV Benign 329681 rs7246349 19:46056500-46056500 19:45553242-45553242 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*7015G>A SNV Benign 329554 rs112948303 19:46049757-46049757 19:45546499-45546499 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*6275T>C SNV Benign 329569 rs74689727 19:46050497-46050497 19:45547239-45547239 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*5525C>T SNV Benign 329584 rs117230006 19:46051247-46051247 19:45547989-45547989 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*1387C>T SNV Benign 329655 rs73568986 19:46055385-46055385 19:45552127-45552127 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*577T>C SNV Benign 329672 rs112654759 19:46056195-46056195 19:45552937-45552937 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*986del deletion Benign 329665 rs377547137 19:46055786-46055786 19:45552528-45552528 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*2485G>A SNV Benign 329641 rs8106584 19:46054287-46054287 19:45551029-45551029 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3878A>G SNV Benign 329616 rs79660166 19:46052894-46052894 19:45549636-45549636 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3722G>A SNV Benign 329620 rs73568973 19:46053050-46053050 19:45549792-45549792 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3212G>A SNV Benign 329629 rs79317386 19:46053560-46053560 19:45550302-45550302 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*5523G>A SNV Benign 329585 rs57585727 19:46051249-46051249 19:45547991-45547991 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*152G>A SNV Benign 329682 rs3826861 19:46056620-46056620 19:45553362-45553362 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*638T>A SNV Benign 329671 rs150575877 19:46056134-46056134 19:45552876-45552876 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*6790T>C SNV Benign 329556 rs10422253 19:46049982-46049982 19:45546724-45546724 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*1294dup duplication Benign 329657 rs74313320 19:46055477-46055478 19:45552219-45552220 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4850_*4852del deletion Benign 329596 rs144752998 19:46051920-46051922 19:45548662-45548664 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3531G>T SNV Benign 329622 rs112899014 19:46053241-46053241 19:45549983-45549983 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3387G>A SNV Benign 329624 rs3760844 19:46053385-46053385 19:45550127-45550127 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3972C>T SNV Benign 329613 rs147972697 19:46052800-46052800 19:45549542-45549542 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4318T>C SNV Benign 329609 rs4802261 19:46052454-46052454 19:45549196-45549196 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4672G>A SNV Benign 329602 rs11669246 19:46052100-46052100 19:45548842-45548842 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.231T>C (p.Ala77=) SNV Benign 21709 rs3826860 19:46057081-46057081 19:45553823-45553823 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*6012A>G SNV Benign 329574 rs11083772 19:46050760-46050760 19:45547502-45547502 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4857A>T SNV Benign 329594 rs4803833 19:46051915-46051915 19:45548657-45548657 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3111_*3113AGC[3] short repeat Benign 329631 rs542311224 19:46053655-46053656 19:45550397-45550398 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3038G>A SNV Benign 329632 rs73568982 19:46053734-46053734 19:45550476-45550476 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*1950G>A SNV Benign 329647 rs4404183 19:46054822-46054822 19:45551564-45551564 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*4132_*4136CCCTG[3] short repeat Benign 329610 rs68079762 19:46052621-46052625 19:45549363-45549367 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.*3874G>A SNV Benign 329617 rs62109650 19:46052898-46052898 19:45549640-45549640 3MT016 3-Methylglutaconic Aciduria, Type Iii OPA3 NM_025136.4(OPA3):c.55G>A (p.Val19Ile) SNV not provided 585025 rs1343690502 19:46087968-46087968 19:45584710-45584710 3MT016 3-Methylglutaconic Aciduria, Type Iii CP NM_000096.4(CP):c.2078-74_2241del deletion Pathogenic 488149 rs1553759167 3:148903070-148903307 3:149185283-149185520 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1865-291_2077+352del deletion Pathogenic 488148 rs1553759338 3:148903955-148904810 3:149186168-149187023 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1208+1G>A SNV Pathogenic 488150 rs1553762556 3:148923954-148923954 3:149206167-149206167 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1012T>A (p.Cys338Ser) SNV Pathogenic 488147 rs769313989 3:148925174-148925174 3:149207387-149207387 ACR006 Aceruloplasminemia SETX NM_015046.7(SETX):c.5306_5307GA[1] (p.Glu1770fs) short repeat Pathogenic 448333 rs750959420 9:135187207-135187210 9:132311820-132311823 ACR006 Aceruloplasminemia CP NC_000003.12:g.(?_149206148)_(149206359_?)del deletion Pathogenic 532021 3:148923935-148924146 3:149206148-149206359 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1503_1504TG[3] (p.Pro503fs) short repeat Pathogenic 532017 rs1553761391 3:148916360-148916361 3:149198573-149198574 ACR006 Aceruloplasminemia CACNA1A NM_000068.4(CACNA1A):c.5547-1241_5547-1240del deletion Pathogenic 560724 rs1568440440 19:13339581-13339582 19:13228767-13228768 ACR006 Aceruloplasminemia CP NC_000003.12:g.(?_149221627)_(149221812_?)del deletion Pathogenic 584171 3:148939414-148939599 3:149221627-149221812 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2702dup (p.Arg902fs) duplication Pathogenic 582988 rs1559935542 3:148896377-148896378 3:149178590-149178591 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2253G>A (p.Trp751Ter) SNV Pathogenic 574977 rs1559940237 3:148903058-148903058 3:149185271-149185271 ACR006 Aceruloplasminemia KIF1C NM_006612.6(KIF1C):c.1051_1055del (p.Asn351fs) deletion Pathogenic 625205 17:4908178-4908182 17:5004883-5004887 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2498C>G (p.Ser833Ter) SNV Pathogenic 645495 3:148899848-148899848 3:149182061-149182061 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1613del (p.Met538fs) deletion Pathogenic 646713 3:148916254-148916254 3:149198467-149198467 ACR006 Aceruloplasminemia ATM NM_000051.3(ATM):c.3244_3245insG (p.His1082fs) insertion Pathogenic 689374 11:108143539-108143540 11:108272812-108272813 ACR006 Aceruloplasminemia ATP6 NC_012920.1:m.9032T>C SNV Pathogenic 693061 MT:9032-9032 MT:9032-9032 ACR006 Aceruloplasminemia HARS1 NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu) SNV Pathogenic 804288 5:140054329-140054329 5:140674744-140674744 ACR006 Aceruloplasminemia HARS1 NM_002109.6(HARS1):c.910_912dup (p.Leu305dup) duplication Pathogenic 804287 5:140056612-140056613 5:140677027-140677028 ACR006 Aceruloplasminemia TRNE NC_012920.1:m.14724G>A SNV Pathogenic 805947 MT:14724-14724 MT:14724-14724 ACR006 Aceruloplasminemia CEP104 NM_014704.4(CEP104):c.89del (p.Thr30fs) deletion Pathogenic 812756 1:3768883-3768883 1:3852319-3852319 ACR006 Aceruloplasminemia PLA2G6 NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr) SNV Pathogenic 6196 rs121908681 22:38516874-38516874 22:38120867-38120867 ACR006 Aceruloplasminemia KCNJ10 NM_002241.5(KCNJ10):c.194G>C (p.Arg65Pro) SNV Pathogenic 7462 rs137853066 1:160012129-160012129 1:160042339-160042339 ACR006 Aceruloplasminemia PMM2 NM_000303.3(PMM2):c.422G>A (p.Arg141His) SNV Pathogenic 7706 rs28936415 16:8905010-8905010 16:8811153-8811153 ACR006 Aceruloplasminemia PMM2 NM_000303.3(PMM2):c.338C>T (p.Pro113Leu) SNV Pathogenic 7723 rs80338700 16:8900255-8900255 16:8806398-8806398 ACR006 Aceruloplasminemia ATP6 NC_012920.1:m.8993T>G SNV Pathogenic 9641 rs199476133 MT:8993-8993 MT:8993-8993 ACR006 Aceruloplasminemia SURF1 NM_003172.4(SURF1):c.841_842CT[2] (p.Ser282fs) short repeat Pathogenic 12770 rs782316919 9:136218825-136218826 9:133351970-133351971 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.3019-1G>A SNV Pathogenic 17559 rs386134142 3:148894200-148894200 3:149176413-149176413 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2389del (p.Glu797fs) deletion Pathogenic 17560 rs386134149 3:148901289-148901289 3:149183502-149183502 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1282_1286dup (p.Asp430fs) duplication Pathogenic 17561 rs386134145 3:148919950-148919951 3:149202163-149202164 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2630G>A (p.Trp877Ter) SNV Pathogenic 17562 rs121909579 3:148897374-148897374 3:149179587-149179587 ACR006 Aceruloplasminemia CP NM_000096.3(CP):c.606dupA (p.Asp203Argfs) duplication Pathogenic 17563 rs386134143 3:148927954-148927955 3:149210167-149210168 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2962G>A (p.Gly988Ser) SNV Pathogenic 42055 rs386134133 3:148895683-148895683 3:149177896-149177896 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.548T>C (p.Ile183Thr) SNV Pathogenic 42056 rs386134123 3:148928013-148928013 3:149210226-149210226 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.82A>T (p.Ile28Phe) SNV Pathogenic 42057 rs386134121 3:148939498-148939498 3:149221711-149221711 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2953A>G (p.Met985Val) SNV Pathogenic 42062 rs386134132 3:148895692-148895692 3:149177905-149177905 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.587C>G (p.Pro196Arg) SNV Pathogenic 42119 rs386134124 3:148927974-148927974 3:149210187-149210187 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.493C>G (p.Gln165Glu) SNV Pathogenic 42120 rs386134122 3:148928068-148928068 3:149210281-149210281 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2131C>A (p.Gln711Lys) SNV Pathogenic 42121 rs386134130 3:148903180-148903180 3:149185393-149185393 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.643C>T (p.Arg215Ter) SNV Pathogenic 42122 rs386134155 3:148927136-148927136 3:149209349-149209349 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.848G>C (p.Trp283Ser) SNV Pathogenic 42126 rs386134126 3:148925338-148925338 3:149207551-149207551 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1123T>C (p.Tyr375His) SNV Pathogenic 42128 rs386134128 3:148924040-148924040 3:149206253-149206253 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1209-2A>G SNV Pathogenic 42130 rs386134137 3:148920030-148920030 3:149202243-149202243 ACR006 Aceruloplasminemia CP NM_000096.3(CP):c.1209_1210dupTG (p.Asp404Valfs) duplication Pathogenic 42131 rs386134138 3:148920026-148920027 3:149202239-149202240 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1257_1258del (p.Ser419_Tyr420insTer) deletion Pathogenic 42133 rs386134144 3:148919979-148919980 3:149202192-149202193 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.146+1G>A SNV Pathogenic 42135 rs386134134 3:148939433-148939433 3:149221646-149221646 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1865-1G>A SNV Pathogenic 42139 rs386134139 3:148904520-148904520 3:149186733-149186733 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1918del (p.Asp640fs) deletion Pathogenic 42141 rs386134146 3:148904466-148904466 3:149186679-149186679 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2066del (p.Pro689fs) deletion Pathogenic 42143 rs386134147 3:148904318-148904318 3:149186531-149186531 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2068del (p.Asp690fs) deletion Pathogenic 42144 rs386134148 3:148904316-148904316 3:149186529-149186529 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2185del (p.Leu729fs) deletion Pathogenic 42147 rs587777922 3:148903126-148903126 3:149185339-149185339 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2482del (p.Ala828fs) deletion Pathogenic 42150 rs386134150 3:148899864-148899864 3:149182077-149182077 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2511dup (p.Gly838fs) duplication Pathogenic 42151 rs386134151 3:148899834-148899835 3:149182047-149182048 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2554+1G>T SNV Pathogenic 42152 rs386134140 3:148899791-148899791 3:149182004-149182004 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2603del (p.Gly868fs) deletion Pathogenic 42153 rs386134152 3:148897401-148897401 3:149179614-149179614 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2689_2690del (p.Leu897fs) deletion Pathogenic 42154 rs386134153 3:148896390-148896391 3:149178603-149178604 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2879-1G>A SNV Pathogenic 42155 rs386134141 3:148895767-148895767 3:149177980-149177980 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2917dup (p.Thr973fs) duplication Pathogenic 42156 rs386134154 3:148895727-148895728 3:149177940-149177941 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.395-1G>A SNV Pathogenic 42168 rs386134135 3:148928167-148928167 3:149210380-149210380 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.607+1G>A SNV Pathogenic 42172 rs386134136 3:148927953-148927953 3:149210166-149210166 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.650T>C (p.Phe217Ser) SNV Pathogenic 42051 rs386134125 3:148927129-148927129 3:149209342-149209342 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1874G>A (p.Gly625Glu) SNV Pathogenic 42052 rs386134129 3:148904510-148904510 3:149186723-149186723 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2675G>A (p.Gly892Glu) SNV Pathogenic 42053 rs386134131 3:148896405-148896405 3:149178618-149178618 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1049C>A (p.Ala350Asp) SNV Pathogenic 42047 rs386134127 3:148924114-148924114 3:149206327-149206327 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2701C>T (p.Arg901Ter) SNV Pathogenic 42124 rs386134156 3:148896379-148896379 3:149178592-149178592 ACR006 Aceruloplasminemia SETX NM_015046.7(SETX):c.5222dup (p.Asp1742fs) duplication Pathogenic 183294 rs730882209 9:135201762-135201763 9:132326375-132326376 ACR006 Aceruloplasminemia SPART NM_015087.5(SPART):c.1450dup (p.Thr484fs) duplication Pathogenic 183277 rs730882198 13:36888396-36888397 13:36314259-36314260 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2991T>G (p.His997Gln) SNV Pathogenic 217866 rs34394958 3:148895654-148895654 3:149177867-149177867 ACR006 Aceruloplasminemia SLC2A1 NM_006516.3(SLC2A1):c.470dup (p.Thr158fs) duplication Pathogenic 373993 rs1057518821 1:43396342-43396343 1:42930671-42930672 ACR006 Aceruloplasminemia ATM NM_000051.3(ATM):c.689del (p.Asn230fs) deletion Pathogenic 374194 rs1057518965 11:108115539-108115539 11:108244812-108244812 ACR006 Aceruloplasminemia NPC1 NM_000271.5(NPC1):c.1421C>T (p.Pro474Leu) SNV Pathogenic 374049 rs372445155 18:21134854-21134854 18:23554890-23554890 ACR006 Aceruloplasminemia CACNA1A NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro) SNV Pathogenic/Likely pathogenic 375366 rs1057519429 19:13346480-13346480 19:13235666-13235666 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1948G>A (p.Gly650Arg) SNV Pathogenic/Likely pathogenic 381716 rs776936158 3:148904436-148904436 3:149186649-149186649 ACR006 Aceruloplasminemia KIF7 NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser) SNV Pathogenic/Likely pathogenic 374124 rs758361736 15:90193067-90193067 15:89649836-89649836 ACR006 Aceruloplasminemia DNM1 NM_004408.4(DNM1):c.139G>A (p.Val47Met) SNV Pathogenic/Likely pathogenic 224142 rs869312702 9:130965888-130965888 9:128203609-128203609 ACR006 Aceruloplasminemia MFN2 NM_014874.3(MFN2):c.314C>T (p.Thr105Met) SNV Pathogenic/Likely pathogenic 214652 rs863224069 1:12056215-12056215 1:11996158-11996158 ACR006 Aceruloplasminemia PTRH2 NM_001015509.2(PTRH2):c.257A>C (p.Gln86Pro) SNV Pathogenic/Likely pathogenic 183332 rs730882234 17:57775086-57775086 17:59697725-59697725 ACR006 Aceruloplasminemia MLC1 NM_015166.3(MLC1):c.178-10T>A SNV Likely pathogenic 21522 rs80358243 22:50521612-50521612 22:50083183-50083183 ACR006 Aceruloplasminemia PMM2 NM_000303.3(PMM2):c.584A>G (p.His195Arg) SNV Likely pathogenic 812999 16:8906908-8906908 16:8813051-8813051 ACR006 Aceruloplasminemia ATP6 NC_012920.1:m.9049G>A SNV Likely pathogenic 693064 MT:9049-9049 MT:9049-9049 ACR006 Aceruloplasminemia SCN8A NM_001330260.2(SCN8A):c.2811G>T (p.Trp937Cys) SNV Likely pathogenic 691261 12:52159721-52159721 12:51765937-51765937 ACR006 Aceruloplasminemia STXBP1 NM_001032221.6(STXBP1):c.1111-10_1111-6delinsG indel Likely pathogenic 691268 9:130438073-130438077 9:127675794-127675798 ACR006 Aceruloplasminemia PCDH12 NM_016580.3(PCDH12):c.2008G>T (p.Glu670Ter) SNV Likely pathogenic 619128 rs531630376 5:141335409-141335409 5:141955844-141955844 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1679G>T (p.Cys560Phe) SNV Likely pathogenic 424620 rs1064797073 3:148916188-148916188 3:149198401-149198401 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2879-1G>T SNV Likely pathogenic 431112 rs386134141 3:148895767-148895767 3:149177980-149177980 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2756T>C (p.Leu919Pro) SNV Likely pathogenic 431113 rs1135401784 3:148896324-148896324 3:149178537-149178537 ACR006 Aceruloplasminemia SYNE1 NM_182961.4(SYNE1):c.9625A>T (p.Lys3209Ter) SNV Likely pathogenic 242514 rs780991031 6:152690632-152690632 6:152369497-152369497 ACR006 Aceruloplasminemia SPTBN2 NM_006946.3(SPTBN2):c.181A>G (p.Lys61Glu) SNV Likely pathogenic 212300 rs797046006 11:66483429-66483429 11:66715958-66715958 ACR006 Aceruloplasminemia COQ8A NM_020247.5(COQ8A):c.1744dup (p.Ser582fs) duplication Likely pathogenic 183336 rs1553281318 1:227174237-227174238 1:226986536-226986537 ACR006 Aceruloplasminemia SEPSECS NM_016955.4(SEPSECS):c.1028_1120+1del deletion Likely pathogenic 183337 rs1553878395 4:25128885-25128978 4:25127263-25127356 ACR006 Aceruloplasminemia SYNGAP1 NM_006772.3(SYNGAP1):c.3200del (p.Pro1067fs) deletion Likely pathogenic 373952 rs1057518796 6:33411528-33411528 6:33443751-33443751 ACR006 Aceruloplasminemia SURF1 NM_003172.4(SURF1):c.751+5G>A SNV Likely pathogenic 373217 rs781934508 9:136219296-136219296 9:133352441-133352441 ACR006 Aceruloplasminemia PNPLA6 NM_001166114.2(PNPLA6):c.898C>G (p.Pro300Ala) SNV Likely pathogenic 374157 rs1057518936 19:7605911-7605911 19:7541025-7541025 ACR006 Aceruloplasminemia PNPLA6 NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp) SNV Conflicting interpretations of pathogenicity 374055 rs374434303 19:7626395-7626395 19:7561509-7561509 ACR006 Aceruloplasminemia SYNE1 NM_182961.4(SYNE1):c.6648C>T (p.Cys2216=) SNV Conflicting interpretations of pathogenicity 283754 rs185829704 6:152728224-152728224 6:152407089-152407089 ACR006 Aceruloplasminemia SYNE1 NM_182961.4(SYNE1):c.21612C>T (p.Pro7204=) SNV Conflicting interpretations of pathogenicity 284568 rs141170182 6:152542605-152542605 6:152221470-152221470 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2522C>G (p.Thr841Arg) SNV Conflicting interpretations of pathogenicity 284863 rs56033670 3:148899824-148899824 3:149182037-149182037 ACR006 Aceruloplasminemia SYNE1 NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=) SNV Conflicting interpretations of pathogenicity 290551 rs150905950 6:152589217-152589217 6:152268082-152268082 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2571C>T (p.Tyr857=) SNV Conflicting interpretations of pathogenicity 210756 rs151304828 3:148897433-148897433 3:149179646-149179646 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1430C>T (p.Pro477Leu) SNV Conflicting interpretations of pathogenicity 210755 rs35331711 3:148917570-148917570 3:149199783-149199783 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.*509A>C SNV Conflicting interpretations of pathogenicity 343746 rs13098532 3:148890992-148890992 3:149173205-149173205 ACR006 Aceruloplasminemia HPS3 NM_000096.4(CP):c.*509A>C SNV Conflicting interpretations of pathogenicity 343746 rs13098532 3:148890992-148890992 3:149173205-149173205 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.93G>A (p.Thr31=) SNV Conflicting interpretations of pathogenicity 343791 rs201521886 3:148939487-148939487 3:149221700-149221700 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2611G>A (p.Asp871Asn) SNV Conflicting interpretations of pathogenicity 343753 rs529607771 3:148897393-148897393 3:149179606-149179606 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1104G>C (p.Gly368=) SNV Conflicting interpretations of pathogenicity 343776 rs142503847 3:148924059-148924059 3:149206272-149206272 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.583G>A (p.Gly195Arg) SNV Conflicting interpretations of pathogenicity 521552 rs750451693 3:148927978-148927978 3:149210191-149210191 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.3006C>T (p.Ser1002=) SNV Conflicting interpretations of pathogenicity 767104 3:148895639-148895639 3:149177852-149177852 ACR006 Aceruloplasminemia NPC1 NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) SNV Conflicting interpretations of pathogenicity 2966 rs80358257 18:21118528-21118528 18:23538564-23538564 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2793A>G (p.Leu931=) SNV Conflicting interpretations of pathogenicity 128840 rs34987997 3:148896287-148896287 3:149178500-149178500 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.322C>T (p.His108Tyr) SNV Conflicting interpretations of pathogenicity 128843 rs34386552 3:148930310-148930310 3:149212523-149212523 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2684G>C (p.Gly895Ala) SNV Conflicting interpretations of pathogenicity 42054 rs139633388 3:148896396-148896396 3:149178609-149178609 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.229G>C (p.Asp77His) SNV Uncertain significance 42050 rs200683433 3:148930403-148930403 3:149212616-149212616 ACR006 Aceruloplasminemia CACNA1A NM_001127221.1(CACNA1A):c.6403C>T (p.Arg2135Cys) SNV Uncertain significance 68440 rs121908235 19:13320252-13320252 19:13209438-13209438 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2554+8C>T SNV Uncertain significance 899707 3:148899784-148899784 3:149181997-149181997 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.782-3C>T SNV Uncertain significance 902593 3:148925407-148925407 3:149207620-149207620 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.*373C>T SNV Uncertain significance 900780 3:148891128-148891128 3:149173341-149173341 ACR006 Aceruloplasminemia HPS3 NM_000096.4(CP):c.*373C>T SNV Uncertain significance 900780 3:148891128-148891128 3:149173341-149173341 ACR006 Aceruloplasminemia CP NC_000003.12:g.(?_149173694)_(149182153_?)del deletion Uncertain significance 832422 3:148891481-148899940 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2816C>G (p.Ser939Cys) SNV Uncertain significance 863254 3:148896264-148896264 3:149178477-149178477 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2434C>A (p.Leu812Ile) SNV Uncertain significance 836521 3:148899912-148899912 3:149182125-149182125 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1819G>A (p.Val607Met) SNV Uncertain significance 862990 3:148905884-148905884 3:149188097-149188097 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1435G>A (p.Gly479Arg) SNV Uncertain significance 844636 3:148917565-148917565 3:149199778-149199778 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1355T>C (p.Val452Ala) SNV Uncertain significance 859266 3:148917645-148917645 3:149199858-149199858 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.597C>G (p.Ile199Met) SNV Uncertain significance 858537 3:148927964-148927964 3:149210177-149210177 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.484A>T (p.Thr162Ser) SNV Uncertain significance 849589 3:148928077-148928077 3:149210290-149210290 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.119G>C (p.Gly40Ala) SNV Uncertain significance 840276 3:148939461-148939461 3:149221674-149221674 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.*1007T>A SNV Uncertain significance 902379 3:148890494-148890494 3:149172707-149172707 ACR006 Aceruloplasminemia HPS3 NM_000096.4(CP):c.*1007T>A SNV Uncertain significance 902379 3:148890494-148890494 3:149172707-149172707 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.*536G>C SNV Uncertain significance 899640 3:148890965-148890965 3:149173178-149173178 ACR006 Aceruloplasminemia HPS3 NM_000096.4(CP):c.*536G>C SNV Uncertain significance 899640 3:148890965-148890965 3:149173178-149173178 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2158C>T (p.Arg720Trp) SNV Uncertain significance 42123 rs145784949 3:148903153-148903153 3:149185366-149185366 ACR006 Aceruloplasminemia CACNA1G NM_018896.5(CACNA1G):c.1288G>A (p.Gly430Ser) SNV Uncertain significance 812153 17:48653051-48653051 17:50575690-50575690 ACR006 Aceruloplasminemia CACNA1G NM_018896.5(CACNA1G):c.3601G>A (p.Gly1201Ser) SNV Uncertain significance 812159 17:48677131-48677131 17:50599770-50599770 ACR006 Aceruloplasminemia GJB1 NM_000166.6(GJB1):c.386G>A (p.Gly129Glu) SNV Uncertain significance 812154 X:70443943-70443943 X:71224093-71224093 ACR006 Aceruloplasminemia ITPR1 NM_002222.6(ITPR1):c.4055A>T (p.Asp1352Val) SNV Uncertain significance 689551 3:4735271-4735271 3:4693587-4693587 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1414C>A (p.Pro472Thr) SNV Uncertain significance 644684 3:148917586-148917586 3:149199799-149199799 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1265A>G (p.Lys422Arg) SNV Uncertain significance 663749 3:148919972-148919972 3:149202185-149202185 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1100G>T (p.Arg367Leu) SNV Uncertain significance 655871 3:148924063-148924063 3:149206276-149206276 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1037-3C>A SNV Uncertain significance 657468 3:148924129-148924129 3:149206342-149206342 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.*40C>T SNV Uncertain significance 902446 3:148891461-148891461 3:149173674-149173674 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.3185C>A (p.Thr1062Asn) SNV Uncertain significance 902447 3:148891514-148891514 3:149173727-149173727 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.3130G>A (p.Asp1044Asn) SNV Uncertain significance 902448 3:148894088-148894088 3:149176301-149176301 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2621G>A (p.Cys874Tyr) SNV Uncertain significance 899706 3:148897383-148897383 3:149179596-149179596 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2496C>T (p.Tyr832=) SNV Uncertain significance 900853 3:148899850-148899850 3:149182063-149182063 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2268T>C (p.His756=) SNV Uncertain significance 900854 3:148903043-148903043 3:149185256-149185256 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1973T>C (p.Ile658Thr) SNV Uncertain significance 902532 3:148904411-148904411 3:149186624-149186624 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1907T>C (p.Met636Thr) SNV Uncertain significance 902533 3:148904477-148904477 3:149186690-149186690 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1478C>T (p.Pro493Leu) SNV Uncertain significance 903382 3:148917522-148917522 3:149199735-149199735 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1379C>T (p.Thr460Ile) SNV Uncertain significance 899767 3:148917621-148917621 3:149199834-149199834 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1357A>G (p.Ile453Val) SNV Uncertain significance 899768 3:148917643-148917643 3:149199856-149199856 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1199C>A (p.Ala400Glu) SNV Uncertain significance 900927 3:148923964-148923964 3:149206177-149206177 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1131C>T (p.Ala377=) SNV Uncertain significance 900928 3:148924032-148924032 3:149206245-149206245 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.936C>T (p.Asp312=) SNV Uncertain significance 902592 3:148925250-148925250 3:149207463-149207463 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.259C>T (p.Pro87Ser) SNV Uncertain significance 903437 3:148930373-148930373 3:149212586-149212586 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.199T>C (p.Tyr67His) SNV Uncertain significance 903438 3:148930433-148930433 3:149212646-149212646 ACR006 Aceruloplasminemia CLCN2 NM_004366.6(CLCN2):c.740G>T (p.Gly247Val) SNV Uncertain significance 523471 rs1553856477 3:184075440-184075440 3:184357652-184357652 ACR006 Aceruloplasminemia DYNC1H1 NM_001376.5(DYNC1H1):c.13298A>C (p.Asp4433Ala) SNV Uncertain significance 523439 rs1555412625 14:102514932-102514932 14:102048595-102048595 ACR006 Aceruloplasminemia NOP56 NM_006392.4(NOP56):c.452G>C (p.Ser151Thr) SNV Uncertain significance 523492 rs1360494485 20:2635476-2635476 20:2654830-2654830 ACR006 Aceruloplasminemia COX3 NC_012920.1:m.9355A>T SNV Uncertain significance 523307 rs1556423663 MT:9355-9355 MT:9355-9355 ACR006 Aceruloplasminemia CACNA1A NM_001127221.1(CACNA1A):c.2396A>T (p.Asp799Val) SNV Uncertain significance 397544 rs1060499675 19:13410054-13410054 19:13299240-13299240 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1313A>G (p.Glu438Gly) SNV Uncertain significance 463161 rs1553761979 3:148919924-148919924 3:149202137-149202137 ACR006 Aceruloplasminemia GRM1 NM_001278064.2(GRM1):c.951-6T>A SNV Uncertain significance 560384 rs758215901 6:146625741-146625741 6:146304605-146304605 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1864+1G>C SNV Uncertain significance 632405 rs1559942361 3:148905838-148905838 3:149188051-149188051 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2681T>C (p.Ile894Thr) SNV Uncertain significance 638933 3:148896399-148896399 3:149178612-149178612 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2446G>A (p.Val816Ile) SNV Uncertain significance 665392 3:148899900-148899900 3:149182113-149182113 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1939T>A (p.Phe647Ile) SNV Uncertain significance 651800 3:148904445-148904445 3:149186658-149186658 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1900C>A (p.Leu634Ile) SNV Uncertain significance 659000 3:148904484-148904484 3:149186697-149186697 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.389A>G (p.His130Arg) SNV Uncertain significance 575769 rs747953840 3:148930243-148930243 3:149212456-149212456 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.407C>T (p.Pro136Leu) SNV Uncertain significance 568696 rs878959339 3:148928154-148928154 3:149210367-149210367 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.944A>G (p.Asn315Ser) SNV Uncertain significance 343778 rs370682704 3:148925242-148925242 3:149207455-149207455 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.701A>G (p.Asp234Gly) SNV Uncertain significance 343784 rs769311718 3:148927078-148927078 3:149209291-149209291 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1774C>G (p.Leu592Val) SNV Uncertain significance 343764 rs200226362 3:148905929-148905929 3:149188142-149188142 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1380C>T (p.Thr460=) SNV Uncertain significance 343768 rs149790356 3:148917620-148917620 3:149199833-149199833 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.164A>G (p.Tyr55Cys) SNV Uncertain significance 343788 rs756029950 3:148930468-148930468 3:149212681-149212681 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.151C>T (p.His51Tyr) SNV Uncertain significance 343789 rs150681942 3:148930481-148930481 3:149212694-149212694 ACR006 Aceruloplasminemia CP NM_000096.3(CP):c.-199C>G SNV Uncertain significance 343794 rs772691705 3:148939778-148939778 3:149221991-149221991 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.*1081T>A SNV Uncertain significance 343737 rs188137938 3:148890420-148890420 3:149172633-149172633 ACR006 Aceruloplasminemia HPS3 NM_000096.4(CP):c.*1081T>A SNV Uncertain significance 343737 rs188137938 3:148890420-148890420 3:149172633-149172633 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.*912C>G SNV Uncertain significance 343738 rs149920453 3:148890589-148890589 3:149172802-149172802 ACR006 Aceruloplasminemia HPS3 NM_000096.4(CP):c.*912C>G SNV Uncertain significance 343738 rs149920453 3:148890589-148890589 3:149172802-149172802 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.*373C>G SNV Uncertain significance 343747 rs370247691 3:148891128-148891128 3:149173341-149173341 ACR006 Aceruloplasminemia HPS3 NM_000096.4(CP):c.*373C>G SNV Uncertain significance 343747 rs370247691 3:148891128-148891128 3:149173341-149173341 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2998G>A (p.Gly1000Ser) SNV Uncertain significance 343750 rs187293972 3:148895647-148895647 3:149177860-149177860 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.*572A>G SNV Uncertain significance 343745 rs561191589 3:148890929-148890929 3:149173142-149173142 ACR006 Aceruloplasminemia HPS3 NM_000096.4(CP):c.*572A>G SNV Uncertain significance 343745 rs561191589 3:148890929-148890929 3:149173142-149173142 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1191C>G (p.Asn397Lys) SNV Uncertain significance 343775 rs146229133 3:148923972-148923972 3:149206185-149206185 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.921G>A (p.Lys307=) SNV Uncertain significance 343780 rs543777038 3:148925265-148925265 3:149207478-149207478 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.508G>A (p.Gly170Arg) SNV Uncertain significance 343786 rs886058089 3:148928053-148928053 3:149210266-149210266 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.*343A>G SNV Uncertain significance 343748 rs886058085 3:148891158-148891158 3:149173371-149173371 ACR006 Aceruloplasminemia HPS3 NM_000096.4(CP):c.*343A>G SNV Uncertain significance 343748 rs886058085 3:148891158-148891158 3:149173371-149173371 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2565C>T (p.Leu855=) SNV Uncertain significance 343754 rs781672409 3:148897439-148897439 3:149179652-149179652 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2557G>A (p.Glu853Lys) SNV Uncertain significance 343755 rs886058086 3:148897447-148897447 3:149179660-149179660 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2286-14dup duplication Uncertain significance 343758 rs561633350 3:148901395-148901396 3:149183608-149183609 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2180T>C (p.Phe727Ser) SNV Uncertain significance 343762 rs886058087 3:148903131-148903131 3:149185344-149185344 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.*583T>C SNV Uncertain significance 343744 rs886058084 3:148890918-148890918 3:149173131-149173131 ACR006 Aceruloplasminemia HPS3 NM_000096.4(CP):c.*583T>C SNV Uncertain significance 343744 rs886058084 3:148890918-148890918 3:149173131-149173131 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2697T>C (p.Val899=) SNV Uncertain significance 343751 rs17847022 3:148896383-148896383 3:149178596-149178596 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2662-14T>C SNV Uncertain significance 343752 rs189155564 3:148896432-148896432 3:149178645-149178645 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2266C>A (p.His756Asn) SNV Uncertain significance 343761 rs773420516 3:148903045-148903045 3:149185258-149185258 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1774C>T (p.Leu592Phe) SNV Uncertain significance 343763 rs200226362 3:148905929-148905929 3:149188142-149188142 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1309A>G (p.Lys437Glu) SNV Uncertain significance 343771 rs764238637 3:148919928-148919928 3:149202141-149202141 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1217C>A (p.Ala406Glu) SNV Uncertain significance 343773 rs147034302 3:148920020-148920020 3:149202233-149202233 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2310G>A (p.Lys770=) SNV Uncertain significance 343757 rs553883583 3:148901368-148901368 3:149183581-149183581 ACR006 Aceruloplasminemia CP NM_000096.3(CP):c.-165C>T SNV Uncertain significance 343792 rs536533840 3:148939744-148939744 3:149221957-149221957 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1713+3A>G SNV Uncertain significance 343765 rs372361874 3:148916151-148916151 3:149198364-149198364 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1575A>G (p.Val525=) SNV Uncertain significance 343766 rs760634973 3:148916292-148916292 3:149198505-149198505 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.938C>T (p.Thr313Ile) SNV Uncertain significance 343779 rs144401501 3:148925248-148925248 3:149207461-149207461 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.850T>C (p.Tyr284His) SNV Uncertain significance 343781 rs886058088 3:148925336-148925336 3:149207549-149207549 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.788A>G (p.Asn263Ser) SNV Uncertain significance 343782 rs150303869 3:148925398-148925398 3:149207611-149207611 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.125A>G (p.Lys42Arg) SNV Uncertain significance 343790 rs886058090 3:148939455-148939455 3:149221668-149221668 ACR006 Aceruloplasminemia DNMT1 NM_001130823.3(DNMT1):c.2718C>G (p.Phe906Leu) SNV Uncertain significance 373927 rs1057518774 19:10259562-10259562 19:10148886-10148886 ACR006 Aceruloplasminemia CACNA1A NM_023035.3(CACNA1A):c.574C>T (p.Arg192Trp) SNV Uncertain significance 373933 rs1057518779 19:13482559-13482559 19:13371745-13371745 ACR006 Aceruloplasminemia POMT1 NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln) SNV Uncertain significance 373970 rs202140413 9:134396827-134396827 9:131521440-131521440 ACR006 Aceruloplasminemia SYNE1 NM_182961.4(SYNE1):c.7713-12_7713-11delinsTTTTTTTCT indel Uncertain significance 355906 rs764324594 6:152712714-152712715 6:152391579-152391580 ACR006 Aceruloplasminemia SYNE1 NM_182961.4(SYNE1):c.7713-26_7713-20dup duplication Uncertain significance 355910 rs756232172 6:152712715-152712716 6:152391580-152391581 ACR006 Aceruloplasminemia SYNE1 NM_182961.4(SYNE1):c.*580del deletion Uncertain significance 355797 rs886061186 6:152442991-152442991 6:152121856-152121856 ACR006 Aceruloplasminemia CP NM_000096.3(CP):c.-183T>C SNV Uncertain significance 343793 rs185578646 3:148939762-148939762 3:149221975-149221975 ACR006 Aceruloplasminemia SYNE1 NM_182961.4(SYNE1):c.7713-26_7713-21dup duplication Uncertain significance 355909 rs756232172 6:152712715-152712716 6:152391580-152391581 ACR006 Aceruloplasminemia SYNE1 NM_182961.4(SYNE1):c.3670-14del deletion Uncertain significance 355928 rs111322292 6:152765727-152765727 6:152444592-152444592 ACR006 Aceruloplasminemia SYNE1 NM_182961.4(SYNE1):c.25070G>A (p.Arg8357His) SNV Uncertain significance 355810 rs766534980 6:152464807-152464807 6:152143672-152143672 ACR006 Aceruloplasminemia SYNE1 NM_182961.4(SYNE1):c.21523-15dup duplication Uncertain significance 355831 rs761577958 6:152542701-152542702 6:152221566-152221567 ACR006 Aceruloplasminemia SYNE1 NM_182961.4(SYNE1):c.10302A>G (p.Leu3434=) SNV Uncertain significance 355890 rs886061205 6:152680591-152680591 6:152359456-152359456 ACR006 Aceruloplasminemia SYNE1 NM_182961.4(SYNE1):c.*667del deletion Uncertain significance 355794 rs71660056 6:152442904-152442904 6:152121769-152121769 ACR006 Aceruloplasminemia SYNE1 NM_182961.4(SYNE1):c.21980T>A (p.Leu7327His) SNV Uncertain significance 355828 rs756758310 6:152540202-152540202 6:152219067-152219067 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1209-15T>A SNV Likely benign 343774 rs35465173 3:148920043-148920043 3:149202256-149202256 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.*137C>T SNV Likely benign 343749 rs34228141 3:148891364-148891364 3:149173577-149173577 ACR006 Aceruloplasminemia HPS3 NM_000096.4(CP):c.*137C>T SNV Likely benign 343749 rs34228141 3:148891364-148891364 3:149173577-149173577 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.*879A>C SNV Likely benign 343739 rs144029944 3:148890622-148890622 3:149172835-149172835 ACR006 Aceruloplasminemia HPS3 NM_000096.4(CP):c.*879A>C SNV Likely benign 343739 rs144029944 3:148890622-148890622 3:149172835-149172835 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1493A>G (p.Gln498Arg) SNV Likely benign 343767 rs17847018 3:148917507-148917507 3:149199720-149199720 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.249T>C (p.Thr83=) SNV Likely benign 532020 rs138512757 3:148930383-148930383 3:149212596-149212596 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1680C>T (p.Cys560=) SNV Likely benign 532019 rs1553761342 3:148916187-148916187 3:149198400-149198400 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1293C>T (p.Ala431=) SNV Likely benign 463160 rs758930665 3:148919944-148919944 3:149202157-149202157 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.*259C>T SNV Likely benign 900781 3:148891242-148891242 3:149173455-149173455 ACR006 Aceruloplasminemia HPS3 NM_000096.4(CP):c.*259C>T SNV Likely benign 900781 3:148891242-148891242 3:149173455-149173455 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1945G>A (p.Ala649Thr) SNV Likely benign 767292 3:148904439-148904439 3:149186652-149186652 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2878+7C>A SNV Likely benign 707535 3:148896195-148896195 3:149178408-149178408 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1099C>T (p.Arg367Cys) SNV Benign/Likely benign 128837 rs34624984 3:148924064-148924064 3:149206277-149206277 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1652C>T (p.Thr551Ile) SNV Benign/Likely benign 42125 rs61733458 3:148916215-148916215 3:149198428-149198428 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2378G>A (p.Arg793His) SNV Benign/Likely benign 128839 rs115552500 3:148901300-148901300 3:149183513-149183513 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2991T>C (p.His997=) SNV Benign/Likely benign 128841 rs34394958 3:148895654-148895654 3:149177867-149177867 ACR006 Aceruloplasminemia HPS3 NM_000096.4(CP):c.2991T>C (p.His997=) SNV Benign/Likely benign 128841 rs34394958 3:148895654-148895654 3:149177867-149177867 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.3182-4A>G SNV Benign/Likely benign 128842 rs34272112 3:148891521-148891521 3:149173734-149173734 ACR006 Aceruloplasminemia HPS3 NM_000096.4(CP):c.3182-4A>G SNV Benign/Likely benign 128842 rs34272112 3:148891521-148891521 3:149173734-149173734 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2997C>T (p.His999=) SNV Benign/Likely benign 766908 3:148895648-148895648 3:149177861-149177861 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.993T>C (p.Pro331=) SNV Benign/Likely benign 343777 rs17847025 3:148925193-148925193 3:149207406-149207406 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.*768T>C SNV Benign/Likely benign 343743 rs35805816 3:148890733-148890733 3:149172946-149172946 ACR006 Aceruloplasminemia HPS3 NM_000096.4(CP):c.*768T>C SNV Benign/Likely benign 343743 rs35805816 3:148890733-148890733 3:149172946-149172946 ACR006 Aceruloplasminemia CP NM_032383.5(HPS3):c.*128A>G SNV Benign/Likely benign 343731 rs73019023 3:148890137-148890137 3:149172350-149172350 ACR006 Aceruloplasminemia HPS3 NM_032383.5(HPS3):c.*128A>G SNV Benign/Likely benign 343731 rs73019023 3:148890137-148890137 3:149172350-149172350 ACR006 Aceruloplasminemia CP NM_032383.5(HPS3):c.*172G>A SNV Benign/Likely benign 343734 rs34511277 3:148890181-148890181 3:149172394-149172394 ACR006 Aceruloplasminemia HPS3 NM_032383.5(HPS3):c.*172G>A SNV Benign/Likely benign 343734 rs34511277 3:148890181-148890181 3:149172394-149172394 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.*1157C>T SNV Benign/Likely benign 343736 rs11537809 3:148890344-148890344 3:149172557-149172557 ACR006 Aceruloplasminemia HPS3 NM_000096.4(CP):c.*1157C>T SNV Benign/Likely benign 343736 rs11537809 3:148890344-148890344 3:149172557-149172557 ACR006 Aceruloplasminemia SYNE1 NM_182961.4(SYNE1):c.17203-7_17203-6del deletion Benign/Likely benign 199206 rs55633181 6:152629773-152629774 6:152308638-152308639 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.*828dup duplication Benign 343740 rs35907111 3:148890672-148890673 3:149172885-149172886 ACR006 Aceruloplasminemia HPS3 NM_000096.4(CP):c.*828dup duplication Benign 343740 rs35907111 3:148890672-148890673 3:149172885-149172886 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2286-15del deletion Benign 343760 rs143522213 3:148901407-148901407 3:149183620-149183620 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.782-14C>T SNV Benign 343783 rs34067682 3:148925418-148925418 3:149207631-149207631 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2554+14C>G SNV Benign 343756 rs200965170 3:148899778-148899778 3:149181991-149181991 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.*769G>A SNV Benign 343742 rs1053669 3:148890732-148890732 3:149172945-149172945 ACR006 Aceruloplasminemia HPS3 NM_000096.4(CP):c.*769G>A SNV Benign 343742 rs1053669 3:148890732-148890732 3:149172945-149172945 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.669G>C (p.Val223=) SNV Benign 343785 rs35438054 3:148927110-148927110 3:149209323-149209323 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1275T>C (p.Tyr425=) SNV Benign 343772 rs34237139 3:148919962-148919962 3:149202175-149202175 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2286-12T>G SNV Benign 343759 rs183671127 3:148901404-148901404 3:149183617-149183617 ACR006 Aceruloplasminemia CP NM_032383.5(HPS3):c.2887+19dup duplication Benign 343715 rs397710976 3:148885779-148885780 3:149167992-149167993 ACR006 Aceruloplasminemia HPS3 NM_032383.5(HPS3):c.2887+19dup duplication Benign 343715 rs397710976 3:148885779-148885780 3:149167992-149167993 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.347C>A (p.Pro116His) SNV Benign 343787 rs73866999 3:148930285-148930285 3:149212498-149212498 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1349-13T>C SNV Benign 343769 rs17847017 3:148917664-148917664 3:149199877-149199877 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1348+9T>C SNV Benign 343770 rs35272481 3:148919880-148919880 3:149202093-149202093 ACR006 Aceruloplasminemia SYNE1 NM_182961.4(SYNE1):c.*666_*667del deletion Benign 355795 rs71660056 6:152442904-152442905 6:152121769-152121770 ACR006 Aceruloplasminemia SYNE1 NM_182961.4(SYNE1):c.11581-23dup duplication Benign 355885 rs5880967 6:152671919-152671920 6:152350784-152350785 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2525A>G (p.Glu842Gly) SNV Benign 707265 3:148899821-148899821 3:149182034-149182034 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2878+12T>G SNV Benign 903310 3:148896190-148896190 3:149178403-149178403 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1632= (p.Glu544=) SNV Benign 463162 rs701753 3:148916235-148916235 3:149198448-149198448 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2286-15G>T SNV Benign 194151 rs34861155 3:148901407-148901407 3:149183620-149183620 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.2662-12T>C SNV Benign 194589 rs16861582 3:148896430-148896430 3:149178643-149178643 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.1950A>C (p.Gly650=) SNV Benign 128838 rs1053709 3:148904434-148904434 3:149186647-149186647 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.457G>A (p.Glu153Lys) SNV Benign 800210 3:148928104-148928104 3:149210317-149210317 ACR006 Aceruloplasminemia CP NM_000096.4(CP):c.*474T>C SNV Benign 899641 3:148891027-148891027 3:149173240-149173240 ACR006 Aceruloplasminemia HPS3 NM_000096.4(CP):c.*474T>C SNV Benign 899641 3:148891027-148891027 3:149173240-149173240 ACR006 Aceruloplasminemia MAT1A NM_000429.3(MAT1A):c.895C>T (p.Arg299Cys) SNV Pathogenic 418870 rs376993881 10:82034829-82034829 10:80275073-80275073 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1006-1G>C SNV Pathogenic 429749 rs1131691567 11:108016928-108016928 11:108146201-108146201 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1033_1034del (p.Glu345fs) deletion Pathogenic 524080 rs781496140 11:108016955-108016956 11:108146228-108146229 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.52dup (p.Leu18fs) duplication Pathogenic 633029 rs1476273214 11:107992380-107992381 11:108121653-108121654 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1A>G (p.Met1Val) SNV Pathogenic 666460 11:107992334-107992334 11:108121607-108121607 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.2T>C (p.Met1Thr) SNV Pathogenic 666461 11:107992335-107992335 11:108121608-108121608 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.79A>T (p.Arg27Ter) SNV Pathogenic 666462 11:108002640-108002640 11:108131913-108131913 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.81_82AT[1] (p.Tyr28fs) short repeat Pathogenic 666463 11:108002642-108002643 11:108131915-108131916 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.84_85TG[3] (p.Glu30fs) short repeat Pathogenic 666464 11:108002644-108002645 11:108131917-108131918 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.99T>A (p.Tyr33Ter) SNV Pathogenic 666465 11:108002660-108002660 11:108131933-108131933 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NC_000011.10:g.(?_108138888)_(108140225_?)del deletion Pathogenic 656823 11:108009615-108010952 11:108138888-108140225 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.354_355delinsG (p.Cys119fs) indel Pathogenic 666475 11:108005888-108005889 11:108135161-108135162 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.286C>T (p.Gln96Ter) SNV Pathogenic 666471 11:108004995-108004995 11:108134268-108134268 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.380C>T (p.Ala127Val) SNV Pathogenic 666479 11:108005914-108005914 11:108135187-108135187 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.414_415del (p.Leu140fs) deletion Pathogenic 666481 11:108005947-108005948 11:108135220-108135221 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.446del (p.Val149fs) deletion Pathogenic 666484 11:108009635-108009635 11:108138908-108138908 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.462_482delinsTCCTC (p.Glu154fs) indel Pathogenic 666486 11:108009651-108009671 11:108138924-108138944 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.754_755insCT (p.Glu252fs) insertion Pathogenic 666498 11:108012355-108012356 11:108141628-108141629 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.949G>A (p.Asp317Asn) SNV Pathogenic 666515 11:108014718-108014718 11:108143991-108143991 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.951C>T (p.Asp317=) SNV Pathogenic 666516 11:108014720-108014720 11:108143993-108143993 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1032dup (p.Glu345fs) duplication Pathogenic 666523 11:108016949-108016950 11:108146222-108146223 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1013_1016dup (p.Asp339fs) duplication Pathogenic 666521 11:108016934-108016935 11:108146207-108146208 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser) SNV Pathogenic 666528 11:108017047-108017047 11:108146320-108146320 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1163G>A (p.Gly388Glu) SNV Pathogenic 666529 11:108017086-108017086 11:108146359-108146359 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1223_1226dup (p.Ala410fs) duplication Pathogenic 666534 11:108018055-108018056 11:108147328-108147329 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.940+1G>T SNV Pathogenic 666512 11:108013278-108013278 11:108142551-108142551 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.941-9T>A SNV Pathogenic 666513 11:108014701-108014701 11:108143974-108143974 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1006-1G>A SNV Pathogenic 666520 11:108016928-108016928 11:108146201-108146201 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.3:c.(120+1_121-1)_(344+1_345-1)del deletion Pathogenic 666537 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.3:c.(72+1_73-1)_(344+1_345-1)del deletion Pathogenic 666538 ALP077 Alpha-Methylacetoacetic Aciduria ACAT2 NM_000019.3:c.(72+1_73-1)_(344+1_345-1)del deletion Pathogenic 666538 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.3:c.(730+1_731-1)_(940+1_941-1)dup duplication Pathogenic 666539 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.3:c.(72+1_73-1)_(435+1_436-1)del deletion Pathogenic 666540 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.334+1G>A SNV Pathogenic 666474 11:108005044-108005044 11:108134317-108134317 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.435+1G>A SNV Pathogenic 666483 11:108005970-108005970 11:108135243-108135243 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.730+1G>A SNV Pathogenic 666496 11:108010943-108010943 11:108140216-108140216 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.731-46_752del deletion Pathogenic 666497 11:108012282-108012349 11:108141555-108141622 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NG_009888.2:g.20624_29833delinsTAA indel Pathogenic 666536 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.121-13T>A SNV Pathogenic 666467 11:108004534-108004534 11:108133807-108133807 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NC_000011.10:g.(?_108121597)_(108147400_?)del deletion Pathogenic 832954 11:107992324-108018127 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.1066C>T (p.Arg356Trp) SNV Pathogenic 834512 10:82034295-82034295 10:80274539-80274539 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.642T>G (p.Tyr214Ter) SNV Pathogenic 864432 11:108010854-108010854 11:108140127-108140127 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter) SNV Pathogenic 858337 11:108016972-108016972 11:108146245-108146245 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1181_1211dup (p.Gln404fs) duplication Pathogenic 853510 11:108018012-108018013 11:108147285-108147286 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.966T>G (p.Ile322Met) SNV Pathogenic 1202 rs118204001 10:82034395-82034395 10:80274639-80274639 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.164C>A (p.Ala55Asp) SNV Pathogenic 1203 rs118204002 10:82045273-82045273 10:80285517-80285517 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.914T>C (p.Leu305Pro) SNV Pathogenic 1205 rs118204004 10:82034810-82034810 10:80275054-80275054 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A MAT1A, 1-BP INS, 827G insertion Pathogenic 1206 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A MAT1A, 2-BP DEL, 1043TG deletion Pathogenic 1207 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.791G>A (p.Arg264His) SNV Pathogenic 1208 rs72558181 10:82034933-82034933 10:80275177-80275177 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A MAT1A, 2-BP INS, 539TG insertion Pathogenic 1209 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.790C>T (p.Arg264Cys) SNV Pathogenic 1210 rs118204005 10:82034934-82034934 10:80275178-80275178 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.1006G>A (p.Gly336Arg) SNV Pathogenic 1211 rs118204006 10:82034355-82034355 10:80274599-80274599 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1006-2A>C SNV Pathogenic 2835 rs145229472 11:108016927-108016927 11:108146200-108146200 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1163+2T>C SNV Pathogenic 2837 rs1280110907 11:108017088-108017088 11:108146361-108146361 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.2T>A (p.Met1Lys) SNV Pathogenic 2838 rs120074142 11:107992335-107992335 11:108121608-108121608 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter) SNV Pathogenic 2840 rs120074144 11:108012415-108012415 11:108141688-108141688 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1083dup (p.Ala362fs) duplication Pathogenic 2842 rs387906283 11:108017005-108017006 11:108146278-108146279 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.826+1G>T SNV Pathogenic 166650 rs727503796 11:108012428-108012428 11:108141701-108141701 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.149del (p.Thr50fs) deletion Pathogenic 208341 rs779565865 11:108004575-108004575 11:108133848-108133848 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.776C>T (p.Ala259Val) SNV Pathogenic 279845 rs138556525 10:82034948-82034948 10:80275192-80275192 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter) SNV Pathogenic 376832 rs532190594 11:108010834-108010834 11:108140107-108140107 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.890C>T (p.Thr297Met) SNV Pathogenic/Likely pathogenic 279672 rs886041122 11:108013227-108013227 11:108142500-108142500 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala) SNV Pathogenic/Likely pathogenic 198029 rs762991875 11:108009644-108009644 11:108138917-108138917 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) SNV Pathogenic/Likely pathogenic 198030 rs199524907 11:108009662-108009662 11:108138935-108138935 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro) SNV Pathogenic/Likely pathogenic 2845 rs120074147 11:108014766-108014766 11:108144039-108144039 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp) SNV Pathogenic/Likely pathogenic 92297 rs148639841 11:108009661-108009661 11:108138934-108138934 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.444_445del (p.Met148fs) deletion Pathogenic/Likely pathogenic 166649 rs727503795 11:108009633-108009634 11:108138906-108138907 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.1070C>T (p.Pro357Leu) SNV Pathogenic/Likely pathogenic 1204 rs118204003 10:82034291-82034291 10:80274535-80274535 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.578T>G (p.Met193Arg) SNV Pathogenic/Likely pathogenic 666490 11:108009767-108009767 11:108139040-108139040 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.643_644delinsAA (p.Ala215Asn) indel Likely pathogenic 666493 11:108010855-108010856 11:108140128-108140129 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.655T>C (p.Tyr219His) SNV Likely pathogenic 666492 11:108010867-108010867 11:108140140-108140140 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.556G>T (p.Asp186Tyr) SNV Likely pathogenic 666488 11:108009745-108009745 11:108139018-108139018 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.578T>C (p.Met193Thr) SNV Likely pathogenic 666489 11:108009767-108009767 11:108139040-108139040 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.759T>A (p.Asp253Glu) SNV Likely pathogenic 666500 11:108012360-108012360 11:108141633-108141633 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.674C>A (p.Ala225Glu) SNV Likely pathogenic 666495 11:108010886-108010886 11:108140159-108140159 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.753_755AGA[1] (p.Glu252del) short repeat Likely pathogenic 666499 11:108012353-108012355 11:108141626-108141628 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.844A>C (p.Asn282His) SNV Likely pathogenic 666507 11:108013181-108013181 11:108142454-108142454 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.431A>C (p.His144Pro) SNV Likely pathogenic 666482 11:108005965-108005965 11:108135238-108135238 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.395C>G (p.Ala132Gly) SNV Likely pathogenic 666480 11:108005929-108005929 11:108135202-108135202 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.370A>G (p.Lys124Glu) SNV Likely pathogenic 666476 11:108005904-108005904 11:108135177-108135177 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.371A>G (p.Lys124Arg) SNV Likely pathogenic 666477 11:108005905-108005905 11:108135178-108135178 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser) SNV Likely pathogenic 666478 11:108005911-108005911 11:108135184-108135184 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NC_000011.10:g.(?_108147260)_(108147400_?)del deletion Likely pathogenic 663947 11:108017987-108018127 11:108147260-108147400 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.218A>C (p.Gln73Pro) SNV Likely pathogenic 666469 11:108004644-108004644 11:108133917-108133917 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1043del (p.Ala348fs) deletion Likely pathogenic 590808 rs1565297769 11:108016966-108016966 11:108146239-108146239 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr) SNV Likely pathogenic 429773 rs748303093 11:108017083-108017083 11:108146356-108146356 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.529C>T (p.Arg177Trp) SNV Likely pathogenic 426944 rs376757912 10:82039949-82039949 10:80280193-80280193 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.896G>A (p.Arg299His) SNV Likely pathogenic 858071 10:82034828-82034828 10:80275072-80275072 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.940+2T>C SNV Likely pathogenic 840792 11:108013279-108013279 11:108142552-108142552 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.64_72+10del deletion Likely pathogenic 842676 11:107992395-107992413 11:108121668-108121686 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.826+5G>T SNV Likely pathogenic 666504 11:108012432-108012432 11:108141705-108141705 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.826+5_826+9del deletion Likely pathogenic 666505 11:108012432-108012436 11:108141705-108141709 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1241_1245delinsGT (p.Asn414_Gly415delinsSer) indel Likely pathogenic 666535 11:108018074-108018078 11:108147347-108147351 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1168T>C (p.Ser390Pro) SNV Likely pathogenic 666532 11:108018001-108018001 11:108147274-108147274 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1189C>G (p.His397Asp) SNV Likely pathogenic 666533 11:108018022-108018022 11:108147295-108147295 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1016_1018dup (p.Asp339dup) duplication Likely pathogenic 666522 11:108016937-108016938 11:108146210-108146211 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1040T>C (p.Ile347Thr) SNV Likely pathogenic 666524 11:108016963-108016963 11:108146236-108146236 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1059T>A (p.Asn353Lys) SNV Likely pathogenic 666525 11:108016982-108016982 11:108146255-108146255 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1059T>G (p.Asn353Lys) SNV Likely pathogenic 666526 11:108016982-108016982 11:108146255-108146255 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1061A>T (p.Glu354Val) SNV Likely pathogenic 666527 11:108016984-108016984 11:108146257-108146257 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.968T>C (p.Ile323Thr) SNV Likely pathogenic 666517 11:108014737-108014737 11:108144010-108144010 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.901G>C (p.Ala301Pro) SNV Likely pathogenic 666511 11:108013238-108013238 11:108142511-108142511 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1138G>A (p.Ala380Thr) SNV Likely pathogenic 2832 rs120074140 11:108017061-108017061 11:108146334-108146334 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg) SNV Likely pathogenic 2833 rs120074141 11:108009736-108009736 11:108139009-108139009 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.410_418delinsT (p.Ser137fs) indel Likely pathogenic 800859 11:108005944-108005952 11:108135217-108135225 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu) SNV Likely pathogenic 2846 rs120074148 11:108005967-108005967 11:108135240-108135240 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.278A>G (p.Asn93Ser) SNV Likely pathogenic 2843 rs120074145 11:108004987-108004987 11:108134260-108134260 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr) SNV Likely pathogenic 2844 rs120074146 11:108013272-108013272 11:108142545-108142545 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1032_1034AGA[1] (p.Glu345del) short repeat Likely pathogenic 2841 rs387906282 11:108016954-108016956 11:108146227-108146229 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1136G>T (p.Gly379Val) SNV Likely pathogenic 2839 rs120074143 11:108017059-108017059 11:108146332-108146332 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.653C>T (p.Ser218Phe) SNV Likely pathogenic 252925 rs879255505 11:108010865-108010865 11:108140138-108140138 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln) SNV Conflicting interpretations of pathogenicity 198381 rs370720208 11:108010835-108010835 11:108140108-108140108 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.60G>C (p.Arg20=) SNV Conflicting interpretations of pathogenicity 193031 rs77311724 11:107992393-107992393 11:108121666-108121666 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.890C>A (p.Thr297Lys) SNV Conflicting interpretations of pathogenicity 666510 11:108013227-108013227 11:108142500-108142500 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.239-8T>A SNV Conflicting interpretations of pathogenicity 732192 11:108004940-108004940 11:108134213-108134213 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.436-4G>C SNV Conflicting interpretations of pathogenicity 769322 11:108009621-108009621 11:108138894-108138894 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.740G>A (p.Ser247Asn) SNV Conflicting interpretations of pathogenicity 430021 rs1131691739 10:82036160-82036160 10:80276404-80276404 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.712G>A (p.Glu238Lys) SNV Conflicting interpretations of pathogenicity 431707 rs116528173 10:82036188-82036188 10:80276432-80276432 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.981G>A (p.Pro327=) SNV Conflicting interpretations of pathogenicity 459971 rs149163315 10:82034380-82034380 10:80274624-80274624 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.248_250AAG[2] (p.Glu85del) short repeat Conflicting interpretations of pathogenicity 666470 11:108004957-108004959 11:108134230-108134232 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.964A>T (p.Ile322Phe) SNV Conflicting interpretations of pathogenicity 372407 rs1057517759 10:82034397-82034397 10:80274641-80274641 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1217A>G (p.Glu406Gly) SNV Uncertain significance 302208 rs147872303 11:108018050-108018050 11:108147323-108147323 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1222G>C (p.Gly408Arg) SNV Uncertain significance 302209 rs553101581 11:108018055-108018055 11:108147328-108147328 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.*55T>C SNV Uncertain significance 302211 rs886047597 11:108018172-108018172 11:108147445-108147445 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.-22C>T SNV Uncertain significance 302196 rs3741054 11:107992312-107992312 11:108121585-108121585 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.15G>C (p.Ala5=) SNV Uncertain significance 302197 rs886047594 11:107992348-107992348 11:108121621-108121621 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.532T>C (p.Leu178=) SNV Uncertain significance 302200 rs370063325 11:108009721-108009721 11:108138994-108138994 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.979A>G (p.Ile327Val) SNV Uncertain significance 302205 rs150038447 11:108014748-108014748 11:108144021-108144021 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val) SNV Uncertain significance 302210 rs767412638 11:108018062-108018062 11:108147335-108147335 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.3(ACAT1):c.*234_*235delCT deletion Uncertain significance 302216 rs1295289344 11:108018350-108018351 11:108147623-108147624 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.3(ACAT1):c.*291A>C SNV Uncertain significance 302219 rs771132416 11:108018408-108018408 11:108147681-108147681 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.3(ACAT1):c.*344T>C SNV Uncertain significance 302221 rs776705661 11:108018461-108018461 11:108147734-108147734 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.3(ACAT1):c.*553T>A SNV Uncertain significance 302226 rs183999318 11:108018670-108018670 11:108147943-108147943 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.3(ACAT1):c.*703T>C SNV Uncertain significance 302231 rs188826374 11:108018820-108018820 11:108148093-108148093 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.299G>A (p.Gly100Glu) SNV Uncertain significance 666472 11:108005008-108005008 11:108134281-108134281 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.301C>A (p.Gln101Lys) SNV Uncertain significance 666473 11:108005010-108005010 11:108134283-108134283 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.460G>A (p.Glu154Lys) SNV Uncertain significance 666485 11:108009649-108009649 11:108138922-108138922 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.851G>A (p.Ser284Asn) SNV Uncertain significance 666508 11:108013188-108013188 11:108142461-108142461 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.854C>T (p.Thr285Ile) SNV Uncertain significance 666509 11:108013191-108013191 11:108142464-108142464 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.760G>A (p.Glu254Lys) SNV Uncertain significance 666501 11:108012361-108012361 11:108141634-108141634 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.764A>C (p.Glu255Ala) SNV Uncertain significance 666502 11:108012365-108012365 11:108141638-108141638 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.829A>C (p.Thr277Pro) SNV Uncertain significance 666506 11:108013166-108013166 11:108142439-108142439 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.534G>T (p.Leu178Phe) SNV Uncertain significance 666487 11:108009723-108009723 11:108138996-108138996 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.664A>C (p.Ser222Arg) SNV Uncertain significance 666494 11:108010876-108010876 11:108140149-108140149 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.602C>T (p.Ala201Val) SNV Uncertain significance 666491 11:108010814-108010814 11:108140087-108140087 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1198C>T (p.His400Tyr) SNV Uncertain significance 463522 rs201183545 11:108018031-108018031 11:108147304-108147304 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.340T>G (p.Ser114Ala) SNV Uncertain significance 459970 rs761462996 10:82040501-82040501 10:80280745-80280745 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.626A>T (p.His209Leu) SNV Uncertain significance 529461 rs1554840780 10:82036274-82036274 10:80276518-80276518 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.98T>A (p.Ile33Asn) SNV Uncertain significance 529462 rs1554841293 10:82045339-82045339 10:80285583-80285583 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys) indel Uncertain significance 666468 11:108004589-108004593 11:108133862-108133866 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.822G>T (p.Trp274Cys) SNV Uncertain significance 661199 10:82034902-82034902 10:80275146-80275146 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.772G>T (p.Asp258Tyr) SNV Uncertain significance 647990 10:82034952-82034952 10:80275196-80275196 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.757G>A (p.Gly253Arg) SNV Uncertain significance 658943 10:82036143-82036143 10:80276387-80276387 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.274G>A (p.Gly92Ser) SNV Uncertain significance 645647 11:108004983-108004983 11:108134256-108134256 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.622C>G (p.Arg208Gly) SNV Uncertain significance 647315 11:108010834-108010834 11:108140107-108140107 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1105A>G (p.Ile369Val) SNV Uncertain significance 656907 11:108017028-108017028 11:108146301-108146301 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.242G>A (p.Arg81Gln) SNV Uncertain significance 431706 rs199600641 10:82043722-82043722 10:80283966-80283966 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) SNV Uncertain significance 438580 rs761086326 11:108018032-108018032 11:108147305-108147305 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.319C>G (p.Leu107Val) SNV Uncertain significance 418289 rs1064793166 10:82040522-82040522 10:80280766-80280766 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.967A>G (p.Ile323Val) SNV Uncertain significance 532307 rs1282394804 11:108014736-108014736 11:108144009-108144009 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.772G>A (p.Asp258Asn) SNV Uncertain significance 529460 rs1554840677 10:82034952-82034952 10:80275196-80275196 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.3(ACAT1):c.1006-10_1006-9ins171 insertion Uncertain significance 532308 11:108016919-108016920 11:108146192-108146193 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.646G>C (p.Glu216Gln) SNV Uncertain significance 580628 rs1564646038 10:82036254-82036254 10:80276498-80276498 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.773A>T (p.Asp258Val) SNV Uncertain significance 578314 rs1241692940 10:82034951-82034951 10:80275195-80275195 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.983T>C (p.Leu328Pro) SNV Uncertain significance 572062 rs1444823004 10:82034378-82034378 10:80274622-80274622 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.745C>T (p.Arg249Trp) SNV Uncertain significance 575881 rs779094715 10:82036155-82036155 10:80276399-80276399 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.290A>C (p.Lys97Thr) SNV Uncertain significance 569132 rs1564647783 10:82043674-82043674 10:80283918-80283918 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.656G>T (p.Arg219Leu) SNV Uncertain significance 574090 rs200894913 10:82036244-82036244 10:80276488-80276488 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.277G>T (p.Asp93Tyr) SNV Uncertain significance 576970 rs762357538 10:82043687-82043687 10:80283931-80283931 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1279C>A (p.Leu427Met) SNV Uncertain significance 880374 rs201500937 11:108018112-108018112 11:108147385-108147385 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.875G>A (p.Arg292His) SNV Uncertain significance 851162 10:82034849-82034849 10:80275093-80275093 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.452C>T (p.Pro151Leu) SNV Uncertain significance 845739 10:82040026-82040026 10:80280270-80280270 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.359G>A (p.Cys120Tyr) SNV Uncertain significance 853951 10:82040482-82040482 10:80280726-80280726 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1253_1255dup (p.Gly418dup) duplication Uncertain significance 853062 11:108018084-108018085 11:108147357-108147358 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*1858T>C SNV Uncertain significance 880363 10:82031679-82031679 10:80271923-80271923 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*1820G>A SNV Uncertain significance 880364 10:82031717-82031717 10:80271961-80271961 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*1741T>C SNV Uncertain significance 880365 10:82031796-82031796 10:80272040-80272040 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*1691T>C SNV Uncertain significance 877593 10:82031846-82031846 10:80272090-80272090 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*1673C>T SNV Uncertain significance 877594 10:82031864-82031864 10:80272108-80272108 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*1661G>C SNV Uncertain significance 877595 10:82031876-82031876 10:80272120-80272120 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*1207T>C SNV Uncertain significance 878610 10:82032330-82032330 10:80272574-80272574 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*1192C>G SNV Uncertain significance 878611 10:82032345-82032345 10:80272589-80272589 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*1100C>G SNV Uncertain significance 878612 10:82032437-82032437 10:80272681-80272681 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*968G>C SNV Uncertain significance 879211 10:82032569-82032569 10:80272813-80272813 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*831T>C SNV Uncertain significance 879212 10:82032706-82032706 10:80272950-80272950 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*610G>C SNV Uncertain significance 880410 10:82032927-82032927 10:80273171-80273171 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*604T>C SNV Uncertain significance 880411 10:82032933-82032933 10:80273177-80273177 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*553T>C SNV Uncertain significance 877648 10:82032984-82032984 10:80273228-80273228 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*545A>G SNV Uncertain significance 877649 10:82032992-82032992 10:80273236-80273236 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*542C>T SNV Uncertain significance 877650 10:82032995-82032995 10:80273239-80273239 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*428G>T SNV Uncertain significance 877651 10:82033109-82033109 10:80273353-80273353 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.121-3C>G SNV Uncertain significance 666466 11:108004544-108004544 11:108133817-108133817 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.947_949dup (p.Ala316dup) duplication Uncertain significance 666514 11:108014713-108014714 11:108143986-108143987 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile) SNV Uncertain significance 666531 11:108018000-108018000 11:108147273-108147273 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.941-14C>T SNV Uncertain significance 193542 rs12801620 11:108014696-108014696 11:108143969-108143969 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp) SNV Uncertain significance 198684 rs794727893 11:108012366-108012366 11:108141639-108141639 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.239-7A>G SNV Uncertain significance 877556 11:108004941-108004941 11:108134214-108134214 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.941-13T>C SNV Uncertain significance 879172 11:108014697-108014697 11:108143970-108143970 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*211G>A SNV Uncertain significance 878669 10:82033326-82033326 10:80273570-80273570 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*68G>A SNV Uncertain significance 878670 10:82033469-82033469 10:80273713-80273713 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.769-13T>C SNV Uncertain significance 877695 10:82034968-82034968 10:80275212-80275212 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*4C>G SNV Uncertain significance 879270 10:82033533-82033533 10:80273777-80273777 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.1074C>T (p.Gly358=) SNV Uncertain significance 879272 10:82034287-82034287 10:80274531-80274531 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.1059C>T (p.Phe353=) SNV Uncertain significance 879273 10:82034302-82034302 10:80274546-80274546 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.816C>T (p.Gly272=) SNV Uncertain significance 877694 10:82034908-82034908 10:80275152-80275152 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.484G>A (p.Ala162Thr) SNV Uncertain significance 877696 10:82039994-82039994 10:80280238-80280238 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.204T>C (p.Cys68=) SNV Uncertain significance 878723 10:82043760-82043760 10:80284004-80284004 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.-5C>T SNV Uncertain significance 880333 11:107992329-107992329 11:108121602-108121602 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.155T>C (p.Ile52Thr) SNV Uncertain significance 877555 11:108004581-108004581 11:108133854-108133854 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.378T>C (p.Cys126=) SNV Uncertain significance 877557 11:108005912-108005912 11:108135185-108135185 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.721A>G (p.Thr241Ala) SNV Uncertain significance 878578 11:108010933-108010933 11:108140206-108140206 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.754G>A (p.Glu252Lys) SNV Uncertain significance 878579 11:108012355-108012355 11:108141628-108141628 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.858G>A (p.Leu286=) SNV Uncertain significance 878580 11:108013195-108013195 11:108142468-108142468 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1191T>C (p.His397=) SNV Uncertain significance 880373 11:108018024-108018024 11:108147297-108147297 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NC_000011.10:g.108147755C>T SNV Uncertain significance 877606 11:108018482-108018482 11:108147755-108147755 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NC_000011.10:g.108147774A>C SNV Uncertain significance 877607 11:108018501-108018501 11:108147774-108147774 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NC_000011.10:g.108147787C>T SNV Uncertain significance 878620 11:108018514-108018514 11:108147787-108147787 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NC_000011.10:g.108147964G>C SNV Uncertain significance 878621 11:108018691-108018691 11:108147964-108147964 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NC_000011.10:g.108148058G>T SNV Uncertain significance 879220 11:108018785-108018785 11:108148058-108148058 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp) SNV Uncertain significance 281026 rs886042080 11:108018086-108018086 11:108147359-108147359 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*747C>T SNV Uncertain significance 301169 rs886047312 10:82032790-82032790 10:80273034-80273034 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*730C>T SNV Uncertain significance 301171 rs886047313 10:82032807-82032807 10:80273051-80273051 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*149T>C SNV Uncertain significance 301180 rs886047317 10:82033388-82033388 10:80273632-80273632 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.-71_-66dup duplication Uncertain significance 301195 rs367639318 10:82049244-82049245 10:80289488-80289489 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.-72A>G SNV Uncertain significance 301197 rs200488580 10:82049251-82049251 10:80289495-80289495 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.3(ACAT1):c.-70T>A SNV Uncertain significance 302193 rs566741161 11:107992264-107992264 11:108121537-108121537 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.291A>T (p.Gly97=) SNV Uncertain significance 302199 rs746216662 11:108005000-108005000 11:108134273-108134273 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.*107dup duplication Uncertain significance 302212 rs886047598 11:108018218-108018219 11:108147491-108147492 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.3(ACAT1):c.*393A>G SNV Uncertain significance 302222 rs886047601 11:108018510-108018510 11:108147783-108147783 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.3(ACAT1):c.*467_*470dupATCA duplication Uncertain significance 302224 rs537463051 11:108018582-108018583 11:108147855-108147856 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.3(ACAT1):c.*591A>T SNV Uncertain significance 302228 rs886047604 11:108018708-108018708 11:108147981-108147981 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.3(ACAT1):c.*675A>C SNV Uncertain significance 302230 rs886047605 11:108018792-108018792 11:108148065-108148065 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*1924C>T SNV Uncertain significance 301152 rs772763454 10:82031613-82031613 10:80271857-80271857 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*1382G>A SNV Uncertain significance 301154 rs886047307 10:82032155-82032155 10:80272399-80272399 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*1078C>T SNV Uncertain significance 301160 rs886047308 10:82032459-82032459 10:80272703-80272703 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*1058T>C SNV Uncertain significance 301161 rs563243686 10:82032479-82032479 10:80272723-80272723 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*736G>A SNV Uncertain significance 301170 rs530670748 10:82032801-82032801 10:80273045-80273045 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*414C>G SNV Uncertain significance 301178 rs886047316 10:82033123-82033123 10:80273367-80273367 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*99A>T SNV Uncertain significance 301182 rs1065766 10:82033438-82033438 10:80273682-80273682 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.952-9T>C SNV Uncertain significance 301185 rs886047320 10:82034418-82034418 10:80274662-80274662 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.642G>A (p.Thr214=) SNV Uncertain significance 301187 rs539772339 10:82036258-82036258 10:80276502-80276502 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.550-5G>A SNV Uncertain significance 301188 rs761943871 10:82036355-82036355 10:80276599-80276599 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.170-12G>A SNV Uncertain significance 301192 rs200462189 10:82043806-82043806 10:80284050-80284050 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.-23C>T SNV Uncertain significance 301193 rs767638556 10:82049202-82049202 10:80289446-80289446 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.-63C>T SNV Uncertain significance 301194 rs886047321 10:82049242-82049242 10:80289486-80289486 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.-90_-88GAA[9] short repeat Uncertain significance 301200 rs10694757 10:82049251-82049252 10:80289495-80289496 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.941-14_941-13insCT insertion Uncertain significance 302203 rs1555034894 11:108014696-108014697 11:108143969-108143970 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1006-10A>G SNV Uncertain significance 302206 rs886047596 11:108016919-108016919 11:108146192-108146192 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.*123_*127dup duplication Uncertain significance 302213 rs556749538 11:108018237-108018238 11:108147510-108147511 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.3(ACAT1):c.*464A>G SNV Uncertain significance 302223 rs886047602 11:108018581-108018581 11:108147854-108147854 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*862C>T SNV Uncertain significance 301167 rs886047311 10:82032675-82032675 10:80272919-80272919 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*786A>T SNV Uncertain significance 301168 rs564845398 10:82032751-82032751 10:80272995-80272995 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*727T>C SNV Uncertain significance 301172 rs886047314 10:82032810-82032810 10:80273054-80273054 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*668G>A SNV Uncertain significance 301173 rs867012184 10:82032869-82032869 10:80273113-80273113 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.916G>C (p.Val306Leu) SNV Uncertain significance 301186 rs369601773 10:82034808-82034808 10:80275052-80275052 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.488G>A (p.Arg163Gln) SNV Uncertain significance 301189 rs752361383 10:82039990-82039990 10:80280234-80280234 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.241C>T (p.Arg81Trp) SNV Uncertain significance 301190 rs750570720 10:82043723-82043723 10:80283967-80283967 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.227T>C (p.Met76Thr) SNV Uncertain significance 301191 rs572741145 10:82043737-82043737 10:80283981-80283981 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.-66del deletion Uncertain significance 301196 rs367639318 10:82049245-82049245 10:80289489-80289489 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.29G>A (p.Ser10Asn) SNV Uncertain significance 302198 rs886047595 11:107992362-107992362 11:108121635-108121635 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*1021C>A SNV Uncertain significance 301163 rs886047310 10:82032516-82032516 10:80272760-80272760 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*1029G>A SNV Uncertain significance 301162 rs886047309 10:82032508-82032508 10:80272752-80272752 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*657C>T SNV Uncertain significance 301174 rs527968994 10:82032880-82032880 10:80273124-80273124 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*523T>C SNV Uncertain significance 301177 rs886047315 10:82033014-82033014 10:80273258-80273258 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.-90_-88GAA[7] short repeat Uncertain significance 301198 rs10694757 10:82049251-82049252 10:80289495-80289496 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*121C>G SNV Uncertain significance 301181 rs886047318 10:82033416-82033416 10:80273660-80273660 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*84C>T SNV Uncertain significance 301183 rs886047319 10:82033453-82033453 10:80273697-80273697 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.-73_-72insGAAAAAA insertion Uncertain significance 301202 rs145126070 10:82049251-82049252 10:80289495-80289496 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.-75G>A SNV Uncertain significance 301204 rs74815121 10:82049254-82049254 10:80289498-80289498 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.770A>C (p.Lys257Thr) SNV Uncertain significance 302201 rs370652435 11:108012371-108012371 11:108141644-108141644 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.-73_-72insGAAAAA insertion Likely benign 301201 rs145126070 10:82049251-82049252 10:80289495-80289496 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*1268T>C SNV Likely benign 301157 rs146819443 10:82032269-82032269 10:80272513-80272513 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.1085+15G>A SNV Likely benign 879271 10:82034261-82034261 10:80274505-80274505 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*19C>A SNV Likely benign 878671 10:82033518-82033518 10:80273762-80273762 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys) SNV Likely benign 735225 11:108012373-108012373 11:108141646-108141646 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.436-5C>T SNV Likely benign 702304 11:108009620-108009620 11:108138893-108138893 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.1140C>T (p.Phe380=) SNV Likely benign 772426 10:82033585-82033585 10:80273829-80273829 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*1727G>A SNV Likely benign 880366 10:82031810-82031810 10:80272054-80272054 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.384A>G (p.Ser128=) SNV Likely benign 798721 11:108005918-108005918 11:108135191-108135191 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.483T>C (p.Tyr161=) SNV Likely benign 796179 11:108009672-108009672 11:108138945-108138945 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.507A>T (p.Pro169=) SNV Likely benign 797904 11:108009696-108009696 11:108138969-108138969 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.436-7T>C SNV Likely benign 796107 11:108009618-108009618 11:108138891-108138891 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.622C>A (p.Arg208=) SNV Likely benign 754529 11:108010834-108010834 11:108140107-108140107 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=) SNV Likely benign 752467 11:108018054-108018054 11:108147327-108147327 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.580-7T>C SNV Likely benign 762359 11:108010785-108010785 11:108140058-108140058 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.696G>A (p.Pro232=) SNV Likely benign 529464 rs139423514 10:82036204-82036204 10:80276448-80276448 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.174A>G (p.Thr58=) SNV Likely benign 529465 rs146794319 10:82043790-82043790 10:80284034-80284034 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.3(ACAT1):c.*258G>A SNV Likely benign 302218 rs79764488 11:108018375-108018375 11:108147648-108147648 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.3(ACAT1):c.*753C>T SNV Likely benign 302232 rs186239800 11:108018870-108018870 11:108148143-108148143 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.*6dup duplication Benign/Likely benign 283778 rs111390656 11:108018121-108018122 11:108147394-108147395 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.789C>T (p.Gly263=) SNV Benign/Likely benign 284366 rs61734475 10:82034935-82034935 10:80275179-80275179 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.-90_-88GAA[8] short repeat Benign 301199 rs10694757 10:82049251-82049252 10:80289495-80289496 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*1297T>C SNV Benign 301155 rs1985908 10:82032240-82032240 10:80272484-80272484 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*1206G>A SNV Benign 301158 rs1832683 10:82032331-82032331 10:80272575-80272575 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*1092C>G SNV Benign 301159 rs41284062 10:82032445-82032445 10:80272689-80272689 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.-153C>T SNV Benign 301205 rs11595587 10:82049332-82049332 10:80289576-80289576 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*67C>T SNV Benign 301184 rs7087728 10:82033470-82033470 10:80273714-80273714 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*569C>G SNV Benign 301175 rs78720701 10:82032968-82032968 10:80273212-80273212 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*529G>A SNV Benign 301176 rs10509413 10:82033008-82033008 10:80273252-80273252 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*982A>T SNV Benign 301165 rs1934144 10:82032555-82032555 10:80272799-80272799 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*995del deletion Benign 301164 rs5786439 10:82032542-82032542 10:80272786-80272786 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.978A>C (p.Pro326=) SNV Benign 302204 rs73559264 11:108014747-108014747 11:108144020-108144020 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*299G>A SNV Benign 301179 rs7097297 10:82033238-82033238 10:80273482-80273482 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*863G>A SNV Benign 301166 rs41284064 10:82032674-82032674 10:80272918-80272918 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.903G>A (p.Ala301=) SNV Benign 302202 rs75811190 11:108013240-108013240 11:108142513-108142513 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.-73A>G SNV Benign 301203 rs369803796 10:82049252-82049252 10:80289496-80289496 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.3(ACAT1):c.*555A>G SNV Benign 302227 rs111376037 11:108018672-108018672 11:108147945-108147945 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*1599_*1600insTTCAGGCTGG insertion Benign 301153 rs145159688 10:82031937-82031938 10:80272181-80272182 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*1292G>C SNV Benign 301156 rs58141836 10:82032245-82032245 10:80272489-80272489 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.3(ACAT1):c.*250C>T SNV Benign 302217 rs79179095 11:108018367-108018367 11:108147640-108147640 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.169+14G>A SNV Benign 878724 10:82045254-82045254 10:80285498-80285498 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.436-4G>A SNV Benign 198028 rs3741050 11:108009621-108009621 11:108138894-108138894 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.1131C>T (p.Tyr377=) SNV Benign 256104 rs2993763 10:82033594-82033594 10:80273838-80273838 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.1085+14C>T SNV Benign 256103 rs2994388 10:82034262-82034262 10:80274506-80274506 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.1005C>T (p.Tyr335=) SNV Benign 256102 rs61734474 10:82034356-82034356 10:80274600-80274600 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.882T>C (p.Ala294=) SNV Benign 256107 rs10887711 10:82034842-82034842 10:80275086-80275086 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.870A>G (p.Val290=) SNV Benign 256106 rs10788546 10:82034854-82034854 10:80275098-80275098 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.426T>C (p.Ala142=) SNV Benign 256105 rs1143694 10:82040052-82040052 10:80280296-80280296 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.92-9C>G SNV Benign 256108 rs10887721 10:82045354-82045354 10:80285598-80285598 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.-9T>A SNV Benign 92294 rs3741055 11:107992325-107992325 11:108121598-108121598 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro) SNV Benign 92295 rs3741056 11:107992346-107992346 11:108121619-108121619 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.471C>A (p.Ser157=) SNV Benign 92296 rs35188041 11:108009660-108009660 11:108138933-108138933 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.-15C>G SNV Benign 166648 rs113348145 11:107992319-107992319 11:108121592-108121592 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.885A>T (p.Ala295=) SNV Benign 529463 rs17851642 10:82034839-82034839 10:80275083-80275083 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*1298G>A SNV Benign 877596 10:82032239-82032239 10:80272483-80272483 ALP077 Alpha-Methylacetoacetic Aciduria MAT1A NM_000429.3(MAT1A):c.*275C>T SNV Benign 878668 10:82033262-82033262 10:80273506-80273506 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.480A>G (p.Pro160=) SNV Benign 791008 11:108009669-108009669 11:108138942-108138942 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.-28T>A SNV Benign 302194 rs36216231 11:107992306-107992306 11:108121579-108121579 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.-22C>G SNV Benign 302195 rs3741054 11:107992312-107992312 11:108121585-108121585 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.3(ACAT1):c.*293A>T SNV Benign 302220 rs73559273 11:108018410-108018410 11:108147683-108147683 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.3(ACAT1):c.*507G>A SNV Benign 302225 rs12271846 11:108018624-108018624 11:108147897-108147897 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.3(ACAT1):c.*599A>C SNV Benign 302229 rs2280332 11:108018716-108018716 11:108147989-108147989 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.*179T>G SNV Benign 302214 rs114728153 11:108018296-108018296 11:108147569-108147569 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.3(ACAT1):c.*214G>C SNV Benign 302215 rs145690535 11:108018331-108018331 11:108147604-108147604 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.3(ACAT1):c.*777_*780delAATT short repeat Benign 368932 rs112801981 11:108018894-108018897 11:108148167-108148170 ALP077 Alpha-Methylacetoacetic Aciduria ACAT1 NM_000019.4(ACAT1):c.1068T>C (p.Phe356=) SNV Benign 302207 rs139657823 11:108016991-108016991 11:108146264-108146264 ALP077 Alpha-Methylacetoacetic Aciduria APOE NM_000041.4(APOE):c.388T>C (p.Cys130Arg) SNV Likely pathogenic,risk factor 17864 rs429358 19:45411941-45411941 19:44908684-44908684 ALZ034 Alzheimer Disease MPO MPO, -463G-A SNV protective,risk factor 3633 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.2010_2011inv (p.Lys670_Met671delinsAsnLeu) inversion Pathogenic 18093 rs281865161 21:27269938-27269939 21:25897626-25897627 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.2075C>G (p.Ala692Gly) SNV Pathogenic 18091 rs63750671 21:27264170-27264170 21:25891858-25891858 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.2149G>T (p.Val717Phe) SNV Pathogenic 18089 rs63750264 21:27264096-27264096 21:25891784-25891784 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.2149G>A (p.Val717Ile) SNV Pathogenic 18088 rs63750264 21:27264096-27264096 21:25891784-25891784 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.2018C>T (p.Ala673Val) SNV Pathogenic 18106 rs193922916 21:27269931-27269931 21:25897619-25897619 ALZ034 Alzheimer Disease APP APP, DUP duplication Pathogenic 18104 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.2080G>A (p.Asp694Asn) SNV Pathogenic 18101 rs63749810 21:27264165-27264165 21:25891853-25891853 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.2078A>G (p.Glu693Gly) SNV Pathogenic 18098 rs63751039 21:27264167-27264167 21:25891855-25891855 ALZ034 Alzheimer Disease PSEN1 NM_000021.4(PSEN1):c.424G>A (p.Val142Ile) SNV Pathogenic 599627 rs1566630910 14:73640359-73640359 14:73173651-73173651 ALZ034 Alzheimer Disease A2M NM_000014.5(A2M):c.2998A>G (p.Ile1000Val) SNV risk factor 18171 rs669 12:9232268-9232268 12:9079672-9079672 ALZ034 Alzheimer Disease VCP NM_007126.5(VCP):c.409C>T (p.Pro137Ser) SNV Likely pathogenic 599629 rs866101707 9:35066708-35066708 9:35066711-35066711 ALZ034 Alzheimer Disease CSF1R NM_005211.3(CSF1R):c.2326C>T (p.His776Tyr) SNV Likely pathogenic 599608 rs1561905293 5:149435898-149435898 5:150056335-150056335 ALZ034 Alzheimer Disease CSF1R NM_005211.3(CSF1R):c.2671G>C (p.Ala891Pro) SNV Likely pathogenic 599607 rs1561901881 5:149433977-149433977 5:150054414-150054414 ALZ034 Alzheimer Disease MAPT NM_016835.4(MAPT):c.2035C>T (p.His679Tyr) SNV Likely pathogenic 599620 rs1568339995 17:44096070-44096070 17:46018704-46018704 ALZ034 Alzheimer Disease GRN NM_002087.3(GRN):c.264+1G>A SNV Likely pathogenic 599611 rs1567885728 17:42426920-42426920 17:44349552-44349552 ALZ034 Alzheimer Disease PSEN1 NM_000021.4(PSEN1):c.1297C>T (p.Pro433Ser) SNV Likely pathogenic 599625 rs1566657804 14:73685890-73685890 14:73219182-73219182 ALZ034 Alzheimer Disease PSEN1 NM_000021.4(PSEN1):c.1177G>T (p.Val393Phe) SNV Likely pathogenic 599628 rs1566656702 14:73683881-73683881 14:73217173-73217173 ALZ034 Alzheimer Disease PSEN1 NM_000021.4(PSEN1):c.869-1G>A SNV Likely pathogenic 599622 rs63750219 14:73673093-73673093 14:73206385-73206385 ALZ034 Alzheimer Disease PSEN1 NM_000021.4(PSEN1):c.665A>C (p.Gln222Pro) SNV Likely pathogenic 599623 rs63750009 14:73659468-73659468 14:73192760-73192760 ALZ034 Alzheimer Disease PSEN1 NM_000021.4(PSEN1):c.510_511insTAT (p.Leu171_Leu172insTyr) insertion Likely pathogenic 599624 rs1566638673 14:73653589-73653590 14:73186881-73186882 ALZ034 Alzheimer Disease TNF NM_000594.3(TNF):c.-1037C>T SNV risk factor 12389 rs1799724 6:31542482-31542482 6:31574705-31574705 ALZ034 Alzheimer Disease PSEN1 NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln) SNV Conflicting interpretations of pathogenicity 98004 rs63750592 14:73637521-73637521 14:73170813-73170813 ALZ034 Alzheimer Disease HFE NM_000410.3(HFE):c.187C>G (p.His63Asp) SNV Conflicting interpretations of pathogenicity, other 10 rs1799945 6:26091179-26091179 6:26090951-26090951 ALZ034 Alzheimer Disease HFE NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) SNV Conflicting interpretations of pathogenicity, other 9 rs1800562 6:26093141-26093141 6:26092913-26092913 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.2137G>A (p.Ala713Thr) SNV Conflicting interpretations of pathogenicity 18094 rs63750066 21:27264108-27264108 21:25891796-25891796 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.592T>C (p.Ser198Pro) SNV Conflicting interpretations of pathogenicity 339645 rs145081708 21:27423386-27423386 21:26051070-26051070 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.618G>A (p.Ser206=) SNV Conflicting interpretations of pathogenicity 339643 rs201022619 21:27423360-27423360 21:26051044-26051044 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.1689T>C (p.Asp563=) SNV Conflicting interpretations of pathogenicity 339633 rs137865262 21:27284273-27284273 21:25911961-25911961 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.885C>T (p.Ala295=) SNV Conflicting interpretations of pathogenicity 704545 21:27372478-27372478 21:26000163-26000163 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.1458+10G>A SNV Conflicting interpretations of pathogenicity 585429 rs201290605 21:27347373-27347373 21:25975060-25975060 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.663-9C>A SNV Conflicting interpretations of pathogenicity 524209 rs199587668 21:27394367-27394367 21:26022051-26022051 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.355+6C>T SNV Uncertain significance 524208 rs1555873548 21:27462253-27462253 21:26089937-26089937 ALZ034 Alzheimer Disease UNC13C NM_001329919.2(UNC13C):c.1326_1328GAA[1] (p.Lys443del) short repeat Uncertain significance 427849 rs746069739 15:54306424-54306426 15:54014227-54014229 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.1280A>T (p.Asp427Val) SNV Uncertain significance 649787 21:27348286-27348286 21:25975973-25975973 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.1090C>T (p.Leu364Phe) SNV Uncertain significance 645976 21:27369675-27369675 21:25997360-25997360 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.1078_1087delinsC (p.Asp360_Lys363delinsGln) indel Uncertain significance 662051 21:27369678-27369687 21:25997363-25997372 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.1030G>A (p.Ala344Thr) SNV Uncertain significance 653874 21:27372333-27372333 21:26000018-26000018 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.819_821CAC[5] (p.Thr279_Thr280del) short repeat Uncertain significance 664060 21:27394182-27394187 21:26021866-26021871 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.803G>A (p.Arg268Lys) SNV Uncertain significance 644611 21:27394218-27394218 21:26021902-26021902 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.298C>T (p.Arg100Trp) SNV Uncertain significance 657080 21:27462316-27462316 21:26090000-26090000 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.1090+4C>T SNV Uncertain significance 640843 21:27369671-27369671 21:25997356-25997356 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.*356T>G SNV Uncertain significance 896311 21:27253625-27253625 21:25881314-25881314 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.*355A>G SNV Uncertain significance 897920 21:27253626-27253626 21:25881315-25881315 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.*289C>T SNV Uncertain significance 897921 21:27253692-27253692 21:25881381-25881381 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.*7G>A SNV Uncertain significance 897922 21:27253974-27253974 21:25881663-25881663 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.2175G>C (p.Lys725Asn) SNV Uncertain significance 897923 21:27264070-27264070 21:25891758-25891758 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.2012T>C (p.Met671Thr) SNV Uncertain significance 899060 21:27269937-27269937 21:25897625-25897625 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.1957C>A (p.Arg653=) SNV Uncertain significance 899061 21:27277342-27277342 21:25905030-25905030 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.1789T>G (p.Leu597Val) SNV Uncertain significance 894929 21:27284173-27284173 21:25911861-25911861 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.1751C>G (p.Pro584Arg) SNV Uncertain significance 894930 21:27284211-27284211 21:25911899-25911899 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.1641G>T (p.Leu547=) SNV Uncertain significance 894931 21:27326950-27326950 21:25954636-25954636 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.1530G>C (p.Lys510Asn) SNV Uncertain significance 894932 21:27327998-27327998 21:25955684-25955684 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.1008C>T (p.Tyr336=) SNV Uncertain significance 896373 21:27372355-27372355 21:26000040-26000040 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.982C>T (p.Arg328Trp) SNV Uncertain significance 896374 21:27372381-27372381 21:26000066-26000066 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.966C>G (p.Gly322=) SNV Uncertain significance 898000 21:27372397-27372397 21:26000082-26000082 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.881A>G (p.Gln294Arg) SNV Uncertain significance 898001 21:27372482-27372482 21:26000167-26000167 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.751G>A (p.Gly251Ser) SNV Uncertain significance 898002 21:27394270-27394270 21:26021954-26021954 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.727G>A (p.Asp243Asn) SNV Uncertain significance 898003 21:27394294-27394294 21:26021978-26021978 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.1726G>A (p.Val576Ile) SNV Uncertain significance 836798 21:27284236-27284236 21:25911924-25911924 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.1037C>A (p.Ser346Tyr) SNV Uncertain significance 851473 21:27369728-27369728 21:25997413-25997413 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.*521T>C SNV Uncertain significance 896307 21:27253460-27253460 21:25881149-25881149 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.*489A>G SNV Uncertain significance 896308 21:27253492-27253492 21:25881181-25881181 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.*454A>G SNV Uncertain significance 896309 21:27253527-27253527 21:25881216-25881216 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.574G>A (p.Glu192Lys) SNV Uncertain significance 899123 21:27423404-27423404 21:26051088-26051088 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.47G>A (p.Arg16Gln) SNV Uncertain significance 894989 21:27542892-27542892 21:26170574-26170574 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.-111G>T SNV Uncertain significance 894990 21:27543049-27543049 21:26170731-26170731 ALZ034 Alzheimer Disease PSEN2 NM_000447.3(PSEN2):c.1316A>C (p.Asp439Ala) SNV Uncertain significance 8847 rs63750110 1:227083249-227083249 1:226895548-226895548 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.1642C>G (p.Leu548Val) SNV Uncertain significance 339635 rs886056994 21:27326949-27326949 21:25954635-25954635 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.1458+9C>T SNV Uncertain significance 339637 rs201937048 21:27347374-27347374 21:25975061-25975061 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.674T>C (p.Val225Ala) SNV Uncertain significance 339642 rs746313873 21:27394347-27394347 21:26022031-26022031 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.602C>T (p.Ala201Val) SNV Uncertain significance 339644 rs149995579 21:27423376-27423376 21:26051060-26051060 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.237A>G (p.Glu79=) SNV Uncertain significance 339648 rs886056996 21:27462377-27462377 21:26090061-26090061 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.468+11A>G SNV Uncertain significance 339646 rs886056995 21:27425541-27425541 21:26053225-26053225 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.-132G>T SNV Uncertain significance 339654 rs886056998 21:27543070-27543070 21:26170752-26170752 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.*735G>A SNV Uncertain significance 339623 rs202132811 21:27253246-27253246 21:25880935-25880935 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.*97C>A SNV Uncertain significance 339626 rs886056992 21:27253884-27253884 21:25881573-25881573 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.2138C>T (p.Ala713Val) SNV Uncertain significance 98237 rs1800557 21:27264107-27264107 21:25891795-25891795 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.2064+10A>T SNV Uncertain significance 339630 rs202051599 21:27269875-27269875 21:25897563-25897563 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.1224+12T>C SNV Uncertain significance 339640 rs200725014 21:27354645-27354645 21:25982332-25982332 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.121C>G (p.Leu41Val) SNV Uncertain significance 339651 rs886056997 21:27484400-27484400 21:26112083-26112083 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.1810G>A (p.Val604Met) SNV Uncertain significance 339632 rs199887707 21:27284152-27284152 21:25911840-25911840 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.1664C>T (p.Ala555Val) SNV Uncertain significance 339634 rs886056993 21:27326927-27326927 21:25954613-25954613 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.*1015T>G SNV Uncertain significance 339619 rs202108412 21:27252966-27252966 21:25880655-25880655 ALZ034 Alzheimer Disease HFE NM_000410.3(HFE):c.193A>T (p.Ser65Cys) SNV Uncertain significance 11 rs1800730 6:26091185-26091185 6:26090957-26090957 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.*810C>T SNV Uncertain significance 894856 21:27253171-27253171 21:25880860-25880860 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.*194A>C SNV Uncertain significance 339625 rs199977643 21:27253787-27253787 21:25881476-25881476 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.1380A>G (p.Arg460=) SNV Uncertain significance 339638 rs745834578 21:27347461-27347461 21:25975148-25975148 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.126C>T (p.Asn42=) SNV Uncertain significance 339650 rs745974049 21:27484395-27484395 21:26112078-26112078 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.*590C>A SNV Likely benign 339624 rs45455403 21:27253391-27253391 21:25881080-25881080 ALZ034 Alzheimer Disease CLU NM_001831.4(CLU):c.608C>T (p.Thr203Ile) SNV Likely benign 428612 rs41276297 8:27462662-27462662 8:27605145-27605145 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.2212-12_2212-10del deletion Likely benign 453313 rs753046287 21:27254092-27254094 21:25881781-25881783 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.*738T>C SNV Likely benign 894857 21:27253243-27253243 21:25880932-25880932 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.*663C>T SNV Likely benign 896305 21:27253318-27253318 21:25881007-25881007 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.-44C>T SNV Likely benign 339652 rs200289921 21:27542982-27542982 21:26170664-26170664 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.225+14G>A SNV Likely benign 339649 rs199644062 21:27484282-27484282 21:26111965-26111965 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.*372A>G SNV Likely benign 896310 21:27253609-27253609 21:25881298-25881298 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.*624A>G SNV Likely benign 896306 21:27253357-27253357 21:25881046-25881046 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.1799C>T (p.Thr600Met) SNV Likely benign 729651 21:27284163-27284163 21:25911851-25911851 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.704C>T (p.Ala235Val) SNV Likely benign 898004 21:27394317-27394317 21:26022001-26022001 ALZ034 Alzheimer Disease PCDH11X NM_032968.4(PCDH11X):c.2279A>T (p.Asp760Val) SNV Likely benign 427850 rs781770086 X:91133518-91133518 X:91878519-91878519 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.1794C>T (p.Thr598=) SNV Likely benign 704956 21:27284168-27284168 21:25911856-25911856 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.1650C>T (p.Asn550=) SNV Likely benign 524210 rs201877705 21:27326941-27326941 21:25954627-25954627 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.1795G>A (p.Glu599Lys) SNV Benign/Likely benign 585430 rs140304729 21:27284167-27284167 21:25911855-25911855 ALZ034 Alzheimer Disease PSEN2 NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) SNV Benign/Likely benign 8852 rs63750197 1:227073271-227073271 1:226885570-226885570 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.2124C>T (p.Gly708=) SNV Benign/Likely benign 339629 rs148888161 21:27264121-27264121 21:25891809-25891809 ALZ034 Alzheimer Disease PSEN1 NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly) SNV Benign/Likely benign 98094 rs17125721 14:73673178-73673178 14:73206470-73206470 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.355+9G>A SNV Benign/Likely benign 339647 rs371324252 21:27462250-27462250 21:26089934-26089934 ALZ034 Alzheimer Disease PSEN2 NM_000447.3(PSEN2):c.185G>A (p.Arg62His) SNV Benign/Likely benign 97995 rs58973334 1:227071449-227071449 1:226883748-226883748 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.1305C>T (p.Phe435=) SNV Benign/Likely benign 446854 rs148180403 21:27347536-27347536 21:25975223-25975223 ALZ034 Alzheimer Disease A2M NM_000014.5(A2M):c.2126-6_2126-2del deletion Benign 402328 rs1799759 12:9246177-9246181 12:9093581-9093585 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.1840A>G (p.Ser614Gly) SNV Benign 339631 rs112263157 21:27284122-27284122 21:25911810-25911810 ALZ034 Alzheimer Disease PLAU NM_002658.5(PLAU):c.422C>T (p.Pro141Leu) SNV Benign 12265 rs2227564 10:75673101-75673101 10:73913343-73913343 ALZ034 Alzheimer Disease TF NM_001063.4(TF):c.1765C>T (p.Pro589Ser) SNV Benign 12617 rs1049296 3:133494354-133494354 3:133775510-133775510 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.*724C>T SNV Benign 894858 21:27253257-27253257 21:25880946-25880946 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.*913C>G SNV Benign 339622 rs202081585 21:27253068-27253068 21:25880757-25880757 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.*967G>A SNV Benign 339620 rs45541739 21:27253014-27253014 21:25880703-25880703 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.1614T>C (p.Tyr538=) SNV Benign 339636 rs45537238 21:27326977-27326977 21:25954663-25954663 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.1299+9T>C SNV Benign 339639 rs114675472 21:27348258-27348258 21:25975945-25975945 ALZ034 Alzheimer Disease ND1 m.3397A>G SNV Benign 9726 rs199476120 MT:3397-3397 MT:3397-3397 ALZ034 Alzheimer Disease NOS3 NM_000603.5(NOS3):c.894T>G (p.Asp298Glu) SNV Benign 14015 rs1799983 7:150696111-150696111 7:150999023-150999023 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.826A>T (p.Thr276Ser) SNV Benign 704999 21:27394195-27394195 21:26021879-26021879 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.741C>T (p.Asp247=) SNV Benign 703233 21:27394280-27394280 21:26021964-26021964 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.225+7C>A SNV Benign 705875 21:27484289-27484289 21:26111972-26111972 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.-111G>C SNV Benign 339653 rs459543 21:27543049-27543049 21:26170731-26170731 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.*914G>A SNV Benign 339621 rs736479 21:27253067-27253067 21:25880756-25880756 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.2212-10T>C SNV Benign 339627 rs45513597 21:27254092-27254092 21:25881781-25881781 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.2133C>A (p.Val711=) SNV Benign 339628 rs116650065 21:27264112-27264112 21:25891800-25891800 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.2212-11_2212-10del deletion Benign 585433 rs112965435 21:27254092-27254093 21:25881781-25881782 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.2148C>A (p.Ile716=) SNV Benign 585432 rs145564988 21:27264097-27264097 21:25891785-25891785 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.975C>T (p.Gly325=) SNV Benign 704993 21:27372388-27372388 21:26000073-26000073 ALZ034 Alzheimer Disease APP NM_000484.4(APP):c.2217C>T (p.Asp739=) SNV Benign 704297 21:27254077-27254077 21:25881766-25881766 ALZ034 Alzheimer Disease TFAP2A NM_001032280.3(TFAP2A):c.1019_1020del (p.Lys340fs) deletion Pathogenic 523459 rs1554110735 6:10398926-10398927 6:10398693-10398694 AMB002 Amblyopia TSEN54 NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) SNV Pathogenic/Likely pathogenic 2120 rs113994152 17:73518081-73518081 17:75522000-75522000 AMB002 Amblyopia GALC NM_000153.4(GALC):c.850G>A (p.Gly284Ser) SNV Pathogenic/Likely pathogenic 374024 rs377274761 14:88434737-88434737 14:87968393-87968393 AMB002 Amblyopia GALC NM_000153.4(GALC):c.196G>A (p.Ala66Thr) SNV Likely pathogenic 374023 rs1057518843 14:88454867-88454867 14:87988523-87988523 AMB002 Amblyopia CACNA1F NM_001256789.3(CACNA1F):c.694A>T (p.Lys232Ter) SNV Likely pathogenic 374004 rs1057518829 X:49086805-49086805 X:49230343-49230343 AMB002 Amblyopia USH2A NM_206933.4(USH2A):c.14027A>G (p.Gln4676Arg) SNV Conflicting interpretations of pathogenicity 48425 rs397517987 1:215844420-215844420 1:215671078-215671078 AMB002 Amblyopia SLC9A6 NM_001042537.1(SLC9A6):c.1346C>A (p.Ala449Glu) SNV Uncertain significance 523398 rs1556619324 X:135098913-135098913 X:136016754-136016754 AMB002 Amblyopia PHACTR1 GRCh37/hg19 6p24.1-23(chr6:12536624-13968949) copy number gain Uncertain significance 523282 6:12536624-13968949 AMB002 Amblyopia RANBP9 GRCh37/hg19 6p24.1-23(chr6:12536624-13968949) copy number gain Uncertain significance 523282 6:12536624-13968949 AMB002 Amblyopia RNF182 GRCh37/hg19 6p24.1-23(chr6:12536624-13968949) copy number gain Uncertain significance 523282 6:12536624-13968949 AMB002 Amblyopia SIRT5 GRCh37/hg19 6p24.1-23(chr6:12536624-13968949) copy number gain Uncertain significance 523282 6:12536624-13968949 AMB002 Amblyopia TBC1D7 GRCh37/hg19 6p24.1-23(chr6:12536624-13968949) copy number gain Uncertain significance 523282 6:12536624-13968949 AMB002 Amblyopia GFOD1 GRCh37/hg19 6p24.1-23(chr6:12536624-13968949) copy number gain Uncertain significance 523282 6:12536624-13968949 AMB002 Amblyopia MCUR1 GRCh37/hg19 6p24.1-23(chr6:12536624-13968949) copy number gain Uncertain significance 523282 6:12536624-13968949 AMB002 Amblyopia NOL7 GRCh37/hg19 6p24.1-23(chr6:12536624-13968949) copy number gain Uncertain significance 523282 6:12536624-13968949 AMB002 Amblyopia USH2A NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) SNV Likely benign 48481 rs146824138 1:216462627-216462627 1:216289285-216289285 AMB002 Amblyopia DLX3 NM_005220.3(DLX3):c.574del (p.Glu192fs) deletion Pathogenic 430607 rs1057518764 17:48069171-48069171 17:49991807-49991807 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.476G>T (p.Arg159Leu) SNV Pathogenic 430609 rs1555617226 17:48070804-48070804 17:49993440-49993440 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.559_560CT[1] (p.Tyr188fs) short repeat Pathogenic 9073 rs387906406 17:48069183-48069184 17:49991819-49991820 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.90T>C (p.Pro30=) SNV Conflicting interpretations of pathogenicity 193301 rs145424773 17:48072273-48072273 17:49994909-49994909 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.710A>G (p.Tyr237Cys) SNV Conflicting interpretations of pathogenicity 289857 rs142563930 17:48069035-48069035 17:49991671-49991671 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.82G>T (p.Asp28Tyr) SNV Conflicting interpretations of pathogenicity 290750 rs147702169 17:48072281-48072281 17:49994917-49994917 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*1505G>A SNV Uncertain significance 323999 rs768920190 17:48067376-48067376 17:49990012-49990012 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.-62C>A SNV Uncertain significance 889646 17:48072424-48072424 17:49995060-49995060 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.-121C>T SNV Uncertain significance 889647 17:48072483-48072483 17:49995119-49995119 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.326-15G>T SNV Uncertain significance 888964 17:48070969-48070969 17:49993605-49993605 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*83G>A SNV Uncertain significance 324019 rs886053134 17:48068798-48068798 17:49991434-49991434 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.846C>A (p.Asn282Lys) SNV Uncertain significance 324020 rs886053135 17:48068899-48068899 17:49991535-49991535 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*548C>T SNV Uncertain significance 890607 17:48068333-48068333 17:49990969-49990969 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.746A>C (p.Asn249Thr) SNV Uncertain significance 892357 17:48068999-48068999 17:49991635-49991635 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*1408G>A SNV Uncertain significance 891092 17:48067473-48067473 17:49990109-49990109 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*1164A>G SNV Uncertain significance 892305 17:48067717-48067717 17:49990353-49990353 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*1025G>T SNV Uncertain significance 888907 17:48067856-48067856 17:49990492-49990492 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*812G>A SNV Uncertain significance 890602 17:48068069-48068069 17:49990705-49990705 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*726T>C SNV Uncertain significance 890603 17:48068155-48068155 17:49990791-49990791 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*437G>A SNV Uncertain significance 891160 17:48068444-48068444 17:49991080-49991080 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*429C>G SNV Uncertain significance 891161 17:48068452-48068452 17:49991088-49991088 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*75G>A SNV Uncertain significance 892355 17:48068806-48068806 17:49991442-49991442 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.140A>G (p.Gln47Arg) SNV Uncertain significance 324026 rs773002632 17:48072223-48072223 17:49994859-49994859 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*1272T>C SNV Uncertain significance 324003 rs192378506 17:48067609-48067609 17:49990245-49990245 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*1205A>C SNV Uncertain significance 324007 rs886053129 17:48067676-48067676 17:49990312-49990312 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*821C>A SNV Uncertain significance 324014 rs886053131 17:48068060-48068060 17:49990696-49990696 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.-131C>G SNV Uncertain significance 324029 rs543871008 17:48072493-48072493 17:49995129-49995129 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.-135C>T SNV Uncertain significance 324033 rs532523216 17:48072497-48072497 17:49995133-49995133 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.-225G>A SNV Uncertain significance 324036 rs546133632 17:48072587-48072587 17:49995223-49995223 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*714C>T SNV Uncertain significance 324015 rs886053132 17:48068167-48068167 17:49990803-49990803 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.-132C>A SNV Uncertain significance 324031 rs150591955 17:48072494-48072494 17:49995130-49995130 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*1252C>G SNV Uncertain significance 324004 rs3803879 17:48067629-48067629 17:49990265-49990265 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*988G>A SNV Uncertain significance 324011 rs555823151 17:48067893-48067893 17:49990529-49990529 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*124C>A SNV Uncertain significance 324018 rs886053133 17:48068757-48068757 17:49991393-49991393 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.798G>A (p.Pro266=) SNV Uncertain significance 324021 rs569475772 17:48068947-48068947 17:49991583-49991583 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.698C>T (p.Pro233Leu) SNV Uncertain significance 324022 rs146899668 17:48069047-48069047 17:49991683-49991683 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.-131C>A SNV Uncertain significance 324030 rs543871008 17:48072493-48072493 17:49995129-49995129 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.-190C>T SNV Uncertain significance 324035 rs886053136 17:48072552-48072552 17:49995188-49995188 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.-37C>G SNV Likely benign 324027 rs375929276 17:48072399-48072399 17:49995035-49995035 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.636A>G (p.Ser212=) SNV Likely benign 888963 17:48069109-48069109 17:49991745-49991745 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*1328T>G SNV Likely benign 324000 rs568427405 17:48067553-48067553 17:49990189-49990189 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.832G>A (p.Gly278Arg) SNV Likely benign 196407 rs151180891 17:48068913-48068913 17:49991549-49991549 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.465G>A (p.Ala155=) SNV Likely benign 324024 rs534788536 17:48070815-48070815 17:49993451-49993451 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*1016G>C SNV Benign 324010 rs74607282 17:48067865-48067865 17:49990501-49990501 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*928A>G SNV Benign 324013 rs12452477 17:48067953-48067953 17:49990589-49990589 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.402G>A (p.Thr134=) SNV Benign 259676 rs2303466 17:48070878-48070878 17:49993514-49993514 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.138C>T (p.Pro46=) SNV Benign 259675 rs33937843 17:48072225-48072225 17:49994861-49994861 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.736G>C (p.Asp246His) SNV Benign 892358 17:48069009-48069009 17:49991645-49991645 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*527G>A SNV Benign 891159 17:48068354-48068354 17:49990990-49990990 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*60G>A SNV Benign 892356 17:48068821-48068821 17:49991457-49991457 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*723T>G SNV Benign 890604 17:48068158-48068158 17:49990794-49990794 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*707C>T SNV Benign 890605 17:48068174-48068174 17:49990810-49990810 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*679C>T SNV Benign 890606 17:48068202-48068202 17:49990838-49990838 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*986C>T SNV Benign 888908 17:48067895-48067895 17:49990531-49990531 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*868C>T SNV Benign 888909 17:48068013-48068013 17:49990649-49990649 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*1335C>T SNV Benign 891093 17:48067546-48067546 17:49990182-49990182 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*1296G>A SNV Benign 892304 17:48067585-48067585 17:49990221-49990221 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*1410G>A SNV Benign 891091 17:48067471-48067471 17:49990107-49990107 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.-64C>T SNV Benign 324028 rs2278163 17:48072426-48072426 17:49995062-49995062 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.-134C>A SNV Benign 324032 rs10459948 17:48072496-48072496 17:49995132-49995132 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*494A>G SNV Benign 324016 rs78617063 17:48068387-48068387 17:49991023-49991023 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*259C>A SNV Benign 324017 rs190141435 17:48068622-48068622 17:49991258-49991258 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*1326T>A SNV Benign 324001 rs3803877 17:48067555-48067555 17:49990191-49990191 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*1300C>G SNV Benign 324002 rs3803878 17:48067581-48067581 17:49990217-49990217 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.*987C>T SNV Benign 324012 rs575910460 17:48067894-48067894 17:49990530-49990530 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.-189G>T SNV Benign 324034 rs34783534 17:48072551-48072551 17:49995187-49995187 AML020 Amelogenesis Imperfecta, Type Iv DLX3 NM_005220.3(DLX3):c.582G>A (p.Pro194=) SNV Benign 324023 rs11868203 17:48069163-48069163 17:49991799-49991799 AML020 Amelogenesis Imperfecta, Type Iv TTR NM_000371.3(TTR):c.212_217dup (p.Glu71_Ser72dup) duplication Pathogenic 545518 rs1555631390 18:29175091-29175092 18:31595128-31595129 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.130C>T (p.Pro44Ser) SNV Pathogenic 181693 rs11541790 18:29172919-29172919 18:31592956-31592956 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.210T>A (p.Ser70Arg) SNV Pathogenic 36890 rs121918076 18:29175092-29175092 18:31595129-31595129 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.113A>G (p.Asp38Gly) SNV Pathogenic 13463 rs121918098 18:29172902-29172902 18:31592939-31592939 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.191T>C (p.Phe64Ser) SNV Pathogenic 13461 rs104894665 18:29172980-29172980 18:31593017-31593017 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.421_423GTC[1] (p.Val142del) short repeat Pathogenic 13460 rs121918096 18:29178615-29178617 18:31598652-31598654 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.199G>A (p.Gly67Arg) SNV Pathogenic 13459 rs387906523 18:29172988-29172988 18:31593025-31593025 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.95T>C (p.Leu32Pro) SNV Pathogenic 13457 rs121918094 18:29172884-29172884 18:31592921-31592921 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.157T>C (p.Phe53Leu) SNV Pathogenic 13456 rs121918068 18:29172946-29172946 18:31592983-31592983 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.118G>A (p.Val40Ile) SNV Pathogenic 13455 rs121918093 18:29172907-29172907 18:31592944-31592944 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.250T>C (p.Phe84Leu) SNV Pathogenic 13453 rs121918091 18:29175132-29175132 18:31595169-31595169 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.200G>C (p.Gly67Ala) SNV Pathogenic 13451 rs121918090 18:29172989-29172989 18:31593026-31593026 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.350C>G (p.Ala117Gly) SNV Pathogenic 13448 rs121918087 18:29178544-29178544 18:31598581-31598581 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.241G>A (p.Glu81Lys) SNV Pathogenic 13447 rs121918086 18:29175123-29175123 18:31595160-31595160 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.270A>C (p.Lys90Asn) SNV Pathogenic 13443 rs267607160 18:29175152-29175152 18:31595189-31595189 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.325G>C (p.Glu109Gln) SNV Pathogenic 13442 rs121918082 18:29175207-29175207 18:31595244-31595244 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.205A>G (p.Thr69Ala) SNV Pathogenic 13441 rs121918081 18:29175087-29175087 18:31595124-31595124 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.148G>C (p.Val50Leu) SNV Pathogenic 13440 rs28933979 18:29172937-29172937 18:31592974-31592974 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.209G>T (p.Ser70Ile) SNV Pathogenic 13439 rs121918080 18:29175091-29175091 18:31595128-31595128 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.224T>C (p.Leu75Pro) SNV Pathogenic 13438 rs121918079 18:29175106-29175106 18:31595143-31595143 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.133G>A (p.Ala45Thr) SNV Pathogenic 13437 rs104894664 18:29172922-29172922 18:31592959-31592959 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.199G>C (p.Gly67Arg) SNV Pathogenic 13436 rs387906523 18:29172988-29172988 18:31593025-31593025 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.233T>G (p.Leu78Arg) SNV Pathogenic 13435 rs121918069 18:29175115-29175115 18:31595152-31595152 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.391C>A (p.Leu131Met) SNV Pathogenic 13424 rs121918073 18:29178585-29178585 18:31598622-31598622 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.311T>G (p.Ile104Ser) SNV Pathogenic 13423 rs121918072 18:29175193-29175193 18:31595230-31595230 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.290C>A (p.Ser97Tyr) SNV Pathogenic 13422 rs121918071 18:29175172-29175172 18:31595209-31595209 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.238A>G (p.Thr80Ala) SNV Pathogenic 13421 rs121918070 18:29175120-29175120 18:31595157-31595157 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.233T>A (p.Leu78His) SNV Pathogenic 13420 rs121918069 18:29175115-29175115 18:31595152-31595152 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.401A>G (p.Tyr134Cys) SNV Pathogenic 13419 rs121918075 18:29178595-29178595 18:31598632-31598632 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.157T>A (p.Phe53Ile) SNV Pathogenic 13418 rs121918068 18:29172946-29172946 18:31592983-31592983 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.148G>A (p.Val50Met) SNV Pathogenic 13417 rs28933979 18:29172937-29172937 18:31592974-31592974 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.166G>C (p.Ala56Pro) SNV Pathogenic 13432 rs121918077 18:29172955-29172955 18:31592992-31592992 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.149T>C (p.Val50Ala) SNV Pathogenic 13430 rs79977247 18:29172938-29172938 18:31592975-31592975 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.210T>G (p.Ser70Arg) SNV Pathogenic 13429 rs121918076 18:29175092-29175092 18:31595129-31595129 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.185A>G (p.Glu62Gly) SNV Pathogenic 13428 rs11541796 18:29172974-29172974 18:31593011-31593011 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.272T>C (p.Val91Ala) SNV Pathogenic 13445 rs121918084 18:29175154-29175154 18:31595191-31595191 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.161G>C (p.Arg54Thr) SNV Pathogenic 840757 18:29172950-29172950 18:31592987-31592987 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.323A>G (p.His108Arg) SNV Pathogenic 853918 18:29175205-29175205 18:31595242-31595242 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.229G>A (p.Gly77Arg) SNV Pathogenic 660445 18:29175111-29175111 18:31595148-31595148 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.173A>C (p.Asp58Ala) SNV Pathogenic 644083 18:29172962-29172962 18:31592999-31592999 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.160A>G (p.Arg54Gly) SNV Pathogenic 660385 18:29172949-29172949 18:31592986-31592986 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.200G>A (p.Gly67Glu) SNV Pathogenic 803481 18:29172989-29172989 18:31593026-31593026 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.116C>A (p.Ala39Asp) SNV Pathogenic/Likely pathogenic 565560 rs11541795 18:29172905-29172905 18:31592942-31592942 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.252T>G (p.Phe84Leu) SNV Pathogenic/Likely pathogenic 845368 18:29175134-29175134 18:31595171-31595171 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.424G>A (p.Val142Ile) SNV Pathogenic/Likely pathogenic 13426 rs76992529 18:29178618-29178618 18:31598655-31598655 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.262A>T (p.Ile88Leu) SNV Pathogenic/Likely pathogenic 13446 rs121918085 18:29175144-29175144 18:31595181-31595181 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.379A>G (p.Ile127Val) SNV Pathogenic/Likely pathogenic 13450 rs121918089 18:29178573-29178573 18:31598610-31598610 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.349G>T (p.Ala117Ser) SNV Pathogenic/Likely pathogenic 13468 rs267607161 18:29178543-29178543 18:31598580-31598580 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.265T>C (p.Tyr89His) SNV Pathogenic/Likely pathogenic 13466 rs121918100 18:29175147-29175147 18:31595184-31595184 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.208A>C (p.Ser70Arg) SNV Likely pathogenic 36889 rs386134269 18:29175090-29175090 18:31595127-31595127 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.239C>T (p.Thr80Ile) SNV Likely pathogenic 577420 rs1254341785 18:29175121-29175121 18:31595158-31595158 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.193G>A (p.Ala65Thr) SNV Likely pathogenic 850453 18:29172982-29172982 18:31593019-31593019 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.277A>G (p.Ile93Val) SNV Likely pathogenic 803482 18:29175159-29175159 18:31595196-31595196 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.128G>A (p.Ser43Asn) SNV Likely pathogenic 661615 18:29172917-29172917 18:31592954-31592954 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.112G>A (p.Asp38Asn) SNV Likely pathogenic 571867 rs1567945632 18:29172901-29172901 18:31592938-31592938 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.206C>G (p.Thr69Ser) SNV Likely pathogenic 538164 rs1555631387 18:29175088-29175088 18:31595125-31595125 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.244G>A (p.Glu82Lys) SNV Likely pathogenic 495841 rs1555631402 18:29175126-29175126 18:31595163-31595163 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.165G>T (p.Lys55Asn) SNV Conflicting interpretations of pathogenicity 576496 rs1567945684 18:29172954-29172954 18:31592991-31592991 AMY087 Amyloidosis, Hereditary, Transthyretin-Related MYL3 NM_000258.3(MYL3):c.92G>A (p.Arg31His) SNV Conflicting interpretations of pathogenicity 228936 rs199639940 3:46904789-46904789 3:46863299-46863299 AMY087 Amyloidosis, Hereditary, Transthyretin-Related PKP2 NM_004572.3(PKP2):c.964G>T (p.Gly322Cys) SNV Conflicting interpretations of pathogenicity 201978 rs200069860 12:33030850-33030850 12:32877916-32877916 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTN NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr) SNV Conflicting interpretations of pathogenicity 191854 rs369342933 2:179414440-179414440 2:178549713-178549713 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.88T>C (p.Cys30Arg) SNV Conflicting interpretations of pathogenicity 13444 rs121918083 18:29172877-29172877 18:31592914-31592914 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.328C>A (p.His110Asn) SNV Conflicting interpretations of pathogenicity 13427 rs121918074 18:29175210-29175210 18:31595247-31595247 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.384C>T (p.Ala128=) SNV Conflicting interpretations of pathogenicity 197136 rs143906738 18:29178578-29178578 18:31598615-31598615 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.418G>T (p.Ala140Ser) SNV Conflicting interpretations of pathogenicity 229597 rs876658108 18:29178612-29178612 18:31598649-31598649 AMY087 Amyloidosis, Hereditary, Transthyretin-Related MYBPC3 NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) SNV Conflicting interpretations of pathogenicity 42543 rs35736435 11:47364234-47364234 11:47342683-47342683 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.336+19G>A SNV Conflicting interpretations of pathogenicity 36891 rs75517067 18:29175237-29175237 18:31595274-31595274 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.68C>T (p.Thr23Met) SNV Conflicting interpretations of pathogenicity 43456 rs377052919 18:29171933-29171933 18:31591970-31591970 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.417G>A (p.Thr139=) SNV Conflicting interpretations of pathogenicity 43455 rs2276382 18:29178611-29178611 18:31598648-31598648 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.14G>A (p.Arg5His) SNV Conflicting interpretations of pathogenicity 181697 rs138657343 18:29171879-29171879 18:31591916-31591916 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.354C>T (p.Asn118=) SNV Conflicting interpretations of pathogenicity 166364 rs11541797 18:29178548-29178548 18:31598585-31598585 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.190T>C (p.Phe64Leu) SNV Conflicting interpretations of pathogenicity 178280 rs138065384 18:29172979-29172979 18:31593016-31593016 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.355G>A (p.Asp119Asn) SNV Conflicting interpretations of pathogenicity 181690 rs76410435 18:29178549-29178549 18:31598586-31598586 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.220_221inv (p.Glu74Ser) inversion Conflicting interpretations of pathogenicity 181701 rs730881168 18:29175102-29175103 18:31595139-31595140 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.371G>A (p.Arg124His) SNV Conflicting interpretations of pathogenicity 13458 rs121918095 18:29178565-29178565 18:31598602-31598602 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.416C>T (p.Thr139Met) SNV Conflicting interpretations of pathogenicity 13434 rs28933981 18:29178610-29178610 18:31598647-31598647 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.386C>T (p.Ala129Val) SNV Uncertain significance 13454 rs121918092 18:29178580-29178580 18:31598617-31598617 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.368G>A (p.Arg123His) SNV Uncertain significance 181698 rs148538950 18:29178562-29178562 18:31598599-31598599 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.301G>A (p.Ala101Thr) SNV Uncertain significance 181696 rs730881165 18:29175183-29175183 18:31595220-31595220 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.280G>C (p.Asp94His) SNV Uncertain significance 181695 rs730881164 18:29175162-29175162 18:31595199-31595199 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.140A>G (p.Asn47Ser) SNV Uncertain significance 178279 rs145551875 18:29172929-29172929 18:31592966-31592966 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.385G>A (p.Ala129Thr) SNV Uncertain significance 43454 rs267607159 18:29178579-29178579 18:31598616-31598616 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.11_13dup (p.His4dup) duplication Uncertain significance 326545 rs747545126 18:29171873-29171874 18:31591910-31591911 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.337-3T>C SNV Uncertain significance 229596 rs774027595 18:29178528-29178528 18:31598565-31598565 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.*304C>T SNV Uncertain significance 326568 rs541989755 18:29178942-29178942 18:31598979-31598979 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.209G>A (p.Ser70Asn) SNV Uncertain significance 808383 18:29175091-29175091 18:31595128-31595128 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.406T>C (p.Tyr136His) SNV Uncertain significance 582458 rs766909913 18:29178600-29178600 18:31598637-31598637 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.69+1G>A SNV Uncertain significance 644589 18:29171935-29171935 18:31591972-31591972 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.200+2T>C SNV Uncertain significance 568078 rs1567945737 18:29172991-29172991 18:31593028-31593028 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.74C>T (p.Thr25Ile) SNV Uncertain significance 856655 18:29172863-29172863 18:31592900-31592900 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.35C>A (p.Ala12Asp) SNV Uncertain significance 857014 18:29171900-29171900 18:31591937-31591937 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NC_000018.9:g.(?_28647971)_(29178648_?)dup duplication Uncertain significance 833405 18:28647971-29178648 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NC_000018.10:g.(?_31591160)_(31598685_?)dup duplication Uncertain significance 831607 18:29171123-29178648 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NC_000018.10:g.31598909G>C SNV Uncertain significance 892145 18:29178872-29178872 18:31598909-31598909 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.*31G>A SNV Uncertain significance 892143 18:29178669-29178669 18:31598706-31598706 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.382G>A (p.Ala128Thr) SNV Uncertain significance 890909 18:29178576-29178576 18:31598613-31598613 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.239C>G (p.Thr80Ser) SNV Uncertain significance 888644 18:29175121-29175121 18:31595158-31595158 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NC_000018.10:g.31591801G>T SNV Uncertain significance 890861 18:29171764-29171764 18:31591801-31591801 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.337-527_349del deletion Uncertain significance 842048 18:29178003-29178542 18:31598040-31598579 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.326A>T (p.Glu109Val) SNV Uncertain significance 846359 18:29175208-29175208 18:31595245-31595245 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.34G>T (p.Ala12Ser) SNV Uncertain significance 579863 rs1567945391 18:29171899-29171899 18:31591936-31591936 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.263T>C (p.Ile88Thr) SNV Uncertain significance 572251 rs1567946180 18:29175145-29175145 18:31595182-31595182 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.242A>G (p.Glu81Gly) SNV Uncertain significance 572472 rs1567946170 18:29175124-29175124 18:31595161-31595161 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.127A>C (p.Ser43Arg) SNV Uncertain significance 641759 18:29172916-29172916 18:31592953-31592953 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.69G>C (p.Thr23=) SNV Uncertain significance 640710 18:29171934-29171934 18:31591971-31591971 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.11_13del (p.His4del) deletion Uncertain significance 658582 18:29171874-29171876 18:31591911-31591913 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.200+1G>A SNV Uncertain significance 631798 rs1567945731 18:29172990-29172990 18:31593027-31593027 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.223C>A (p.Leu75Met) SNV Uncertain significance 842099 18:29175105-29175105 18:31595142-31595142 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.137T>C (p.Ile46Thr) SNV Uncertain significance 639226 18:29172926-29172926 18:31592963-31592963 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.432_437del (p.Asn144_Pro145del) deletion Uncertain significance 326563 rs886053745 18:29178622-29178627 18:31598659-31598664 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.136A>G (p.Ile46Val) SNV Uncertain significance 246201 rs773584864 18:29172925-29172925 18:31592962-31592962 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.122G>A (p.Arg41Gln) SNV Uncertain significance 246463 rs879254269 18:29172911-29172911 18:31592948-31592948 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.25C>T (p.Leu9Phe) SNV Uncertain significance 245725 rs762243340 18:29171890-29171890 18:31591927-31591927 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.171_173TGA[1] (p.Asp59del) short repeat Uncertain significance 538166 rs1555631238 18:29172960-29172962 18:31592997-31592999 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.169G>A (p.Ala57Thr) SNV Uncertain significance 538165 rs1380447419 18:29172958-29172958 18:31592995-31592995 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.11A>T (p.His4Leu) SNV Uncertain significance 803480 18:29171876-29171876 18:31591913-31591913 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.62G>C (p.Gly21Ala) SNV Uncertain significance 470719 rs1469623969 18:29171927-29171927 18:31591964-31591964 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.194C>T (p.Ala65Val) SNV Uncertain significance 448841 rs730881169 18:29172983-29172983 18:31593020-31593020 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.370C>T (p.Arg124Cys) SNV Uncertain significance 404412 rs745834030 18:29178564-29178564 18:31598601-31598601 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.*143G>C SNV Uncertain significance 326565 rs545271394 18:29178781-29178781 18:31598818-31598818 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.-61G>A SNV Uncertain significance 326544 rs770403822 18:29171805-29171805 18:31591842-31591842 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.267C>T (p.Tyr89=) SNV Likely benign 378834 rs757950308 18:29175149-29175149 18:31595186-31595186 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.405C>G (p.Ser135=) SNV Likely benign 412959 rs760153126 18:29178599-29178599 18:31598636-31598636 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.195C>T (p.Ala65=) SNV Likely benign 799841 18:29172984-29172984 18:31593021-31593021 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.141T>C (p.Asn47=) SNV Likely benign 538167 rs1252826226 18:29172930-29172930 18:31592967-31592967 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NC_000018.10:g.31598936C>T SNV Likely benign 892146 18:29178899-29178899 18:31598936-31598936 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.336+8T>C SNV Likely benign 470718 rs1176464590 18:29175226-29175226 18:31595263-31595263 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.69+10T>C SNV Likely benign 741882 18:29171944-29171944 18:31591981-31591981 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.437A>G (p.Lys146Arg) SNV Benign/Likely benign 181706 rs536294863 18:29178631-29178631 18:31598668-31598668 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.70-7C>T SNV Benign/Likely benign 137848 rs587780990 18:29172852-29172852 18:31592889-31592889 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TNNI3 NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) SNV Benign/Likely benign 12421 rs77615401 19:55667607-55667607 19:55156239-55156239 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.372C>G (p.Arg124=) SNV Benign/Likely benign 517738 rs780119793 18:29178566-29178566 18:31598603-31598603 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTN NM_001267550.2(TTN):c.83272T>C (p.Phe27758Leu) SNV Benign 535366 rs188323108 2:179427587-179427587 2:178562860-178562860 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.*21C>A SNV Benign 326564 rs12226 18:29178659-29178659 18:31598696-31598696 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.76G>A (p.Gly26Ser) SNV Benign 13452 rs1800458 18:29172865-29172865 18:31592902-31592902 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.4(TTR):c.360C>T (p.Ser120=) SNV Benign 43453 rs150127220 18:29178554-29178554 18:31598591-31598591 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.*345G>A SNV Benign 326569 rs58172837 18:29178983-29178983 18:31599020-31599020 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NM_000371.3(TTR):c.*191C>T SNV Benign 326567 rs556327750 18:29178829-29178829 18:31598866-31598866 AMY087 Amyloidosis, Hereditary, Transthyretin-Related TTR NC_000018.10:g.31591160A>T SNV Benign 744399 18:29171123-29171123 18:31591160-31591160 AMY087 Amyloidosis, Hereditary, Transthyretin-Related SOD1 NM_000454.4(SOD1):c.112G>C (p.Gly38Arg) SNV Pathogenic 549678 rs121912431 21:33036142-33036142 21:31663829-31663829 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.435G>C (p.Leu145Phe) SNV Pathogenic 586637 rs1482760341 21:33040861-33040861 21:31668548-31668548 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.5(SOD1):c.317C>T (p.Ser106Leu) SNV Pathogenic 695024 21:33039648-33039648 21:31667335-31667335 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.5(SOD1):c.255G>C (p.Leu85Phe) SNV Pathogenic 855744 21:33039586-33039586 21:31667273-31667273 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.5(SOD1):c.13G>T (p.Ala5Ser) SNV Pathogenic 873321 21:33032095-33032095 21:31659782-31659782 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.5(SOD1):c.435G>T (p.Leu145Phe) SNV Pathogenic 873203 21:33040861-33040861 21:31668548-31668548 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.175G>A (p.Gly59Ser) SNV Pathogenic 8401 rs121909342 2:74605231-74605231 2:74378104-74378104 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.434T>C (p.Leu145Ser) SNV Pathogenic 14768 rs121912446 21:33040860-33040860 21:31668547-31668547 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.436G>A (p.Ala146Thr) SNV Pathogenic 14769 rs121912447 21:33040862-33040862 21:31668549-31668549 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.358-10T>G SNV Pathogenic 14770 21:33040774-33040774 21:31668461-31668461 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.20G>T (p.Cys7Phe) SNV Pathogenic 14771 rs121912448 21:33032102-33032102 21:31659789-31659789 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.455T>C (p.Ile152Thr) SNV Pathogenic 14772 rs121912449 21:33040881-33040881 21:31668568-31668568 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.64G>A (p.Glu22Lys) SNV Pathogenic 14773 rs121912450 21:33032146-33032146 21:31659833-31659833 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.404G>A (p.Ser135Asn) SNV Pathogenic 14774 rs121912451 21:33040830-33040830 21:31668517-31668517 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.253T>G (p.Leu85Val) SNV Pathogenic 14775 rs121912452 21:33039584-33039584 21:31667271-31667271 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.49G>A (p.Gly17Ser) SNV Pathogenic 14776 rs121912453 21:33032131-33032131 21:31659818-31659818 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.380T>A (p.Leu127Ter) SNV Pathogenic 14777 rs121912454 21:33040806-33040806 21:31668493-31668493 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.358-11A>G SNV Pathogenic 14778 21:33040773-33040773 21:31668460-31668460 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.217G>A (p.Gly73Ser) SNV Pathogenic 14779 rs121912455 21:33038809-33038809 21:31666496-31666496 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.37G>C (p.Gly13Arg) SNV Pathogenic 14780 rs121912456 21:33032119-33032119 21:31659806-31659806 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.137T>G (p.Phe46Cys) SNV Pathogenic 14781 rs121912457 21:33036167-33036167 21:31663854-31663854 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.242A>G (p.His81Arg) SNV Pathogenic 14782 rs121912458 21:33039573-33039573 21:31667260-31667260 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.280G>C (p.Gly94Arg) SNV Pathogenic 14784 rs121912437 21:33039611-33039611 21:31667298-31667298 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 SOD1, 6-BP DEL, GGACCA deletion Pathogenic 14785 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 SOD1, IVS4AS, C-G, -304 SNV Pathogenic 14786 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.124G>A (p.Gly42Ser) SNV Pathogenic 14754 rs121912433 21:33036154-33036154 21:31663841-31663841 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.125G>A (p.Gly42Asp) SNV Pathogenic 14755 rs121912434 21:33036155-33036155 21:31663842-31663842 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.131A>G (p.His44Arg) SNV Pathogenic 14756 rs121912435 21:33036161-33036161 21:31663848-31663848 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.319C>G (p.Leu107Val) SNV Pathogenic 14757 rs121912440 21:33039650-33039650 21:31667337-31667337 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.256G>C (p.Gly86Arg) SNV Pathogenic 14758 rs121912436 21:33039587-33039587 21:31667274-31667274 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.280G>T (p.Gly94Cys) SNV Pathogenic 14759 rs121912437 21:33039611-33039611 21:31667298-31667298 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.281G>C (p.Gly94Ala) SNV Pathogenic 14760 rs121912438 21:33039612-33039612 21:31667299-31667299 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.302A>G (p.Glu101Gly) SNV Pathogenic 14761 rs121912439 21:33039633-33039633 21:31667320-31667320 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.338T>C (p.Ile113Thr) SNV Pathogenic 14762 rs74315452 21:33039669-33039669 21:31667356-31667356 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.14C>T (p.Ala5Val) SNV Pathogenic 14763 rs121912442 21:33032096-33032096 21:31659783-31659783 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.140A>G (p.His47Arg) SNV Pathogenic 14764 rs121912443 21:33036170-33036170 21:31663857-31663857 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.13G>A (p.Ala5Thr) SNV Pathogenic 14765 rs121912444 21:33032095-33032095 21:31659782-31659782 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.112G>A (p.Gly38Arg) SNV Pathogenic 14752 rs121912431 21:33036142-33036142 21:31663829-31663829 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.341T>C (p.Ile114Thr) SNV Pathogenic 197145 rs121912441 21:33039672-33039672 21:31667359-31667359 AMY091 Amyotrophic Lateral Sclerosis 1 FIG4 NM_014845.5(FIG4):c.547C>T (p.Arg183Ter) SNV Pathogenic/Likely pathogenic 1723 rs121908288 6:110056402-110056402 6:109735199-109735199 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.301G>A (p.Glu101Lys) SNV Pathogenic/Likely pathogenic 574319 rs76731700 21:33039632-33039632 21:31667319-31667319 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.260A>G (p.Asn87Ser) SNV Pathogenic/Likely pathogenic 468253 rs11556620 21:33039591-33039591 21:31667278-31667278 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.443G>A (p.Gly148Asp) SNV Likely pathogenic 536142 rs1555836950 21:33040869-33040869 21:31668556-31668556 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.290A>T (p.Asp97Val) SNV Likely pathogenic 692200 21:33039621-33039621 21:31667308-31667308 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.5(SOD1):c.146A>G (p.His49Arg) SNV Likely pathogenic 807693 21:33036176-33036176 21:31663863-31663863 AMY091 Amyotrophic Lateral Sclerosis 1 NEFH NM_021076.4(NEFH):c.2015_2056CAGAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGG[1] (p.672_685AEAKSPEKAKSPVK[1]) short repeat risk factor 14035 rs606231212 22:29885610-29885651 22:29489621-29489662 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3302G>A (p.Arg1101Lys) SNV risk factor 8405 rs121909345 2:74590464-74590464 2:74363337-74363337 AMY091 Amyotrophic Lateral Sclerosis 1 PRPH PRPH, 1-BP DEL, 228C deletion risk factor 13706 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1712T>C (p.Met571Thr) SNV risk factor 8403 rs121909343 2:74595997-74595997 2:74368870-74368870 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.5(SOD1):c.446T>G (p.Val149Gly) SNV Likely pathogenic 873204 21:33040872-33040872 21:31668559-31668559 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.5(SOD1):c.43G>A (p.Val15Met) SNV Likely pathogenic 873322 21:33032125-33032125 21:31659812-31659812 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.5(SOD1):c.68A>T (p.Gln23Leu) SNV Likely pathogenic 873323 21:33032150-33032150 21:31659837-31659837 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.5(SOD1):c.95T>C (p.Val32Ala) SNV Likely pathogenic 873196 21:33036125-33036125 21:31663812-31663812 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.5(SOD1):c.205T>C (p.Ser69Pro) SNV Likely pathogenic 873197 21:33038797-33038797 21:31666484-31666484 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.5(SOD1):c.214C>T (p.His72Tyr) SNV Likely pathogenic 873198 21:33038806-33038806 21:31666493-31666493 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.5(SOD1):c.262G>A (p.Val88Met) SNV Likely pathogenic 873199 21:33039593-33039593 21:31667280-31667280 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.5(SOD1):c.376G>A (p.Asp126Asn) SNV Likely pathogenic 873200 21:33040802-33040802 21:31668489-31668489 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.5(SOD1):c.400G>A (p.Glu134Lys) SNV Likely pathogenic 873201 21:33040826-33040826 21:31668513-31668513 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.5(SOD1):c.412A>G (p.Thr138Ala) SNV Likely pathogenic 873202 21:33040838-33040838 21:31668525-31668525 AMY091 Amyotrophic Lateral Sclerosis 1 CHRNA3 NM_000743.5(CHRNA3):c.725del (p.Leu242fs) deletion Likely pathogenic 873308 15:78894259-78894259 15:78601917-78601917 AMY091 Amyotrophic Lateral Sclerosis 1 CHRNA3 NM_000743.5(CHRNA3):c.708_709insG (p.Ile237fs) insertion Likely pathogenic 873309 15:78894275-78894276 15:78601933-78601934 AMY091 Amyotrophic Lateral Sclerosis 1 CHRNA3 NM_000743.5(CHRNA3):c.247_248insG (p.Thr83fs) insertion Likely pathogenic 873310 15:78910978-78910979 15:78618636-78618637 AMY091 Amyotrophic Lateral Sclerosis 1 CHRNA3 NM_000743.5(CHRNA3):c.1A>G (p.Met1Val) SNV Likely pathogenic 873311 15:78913136-78913136 15:78620794-78620794 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.115C>G (p.Leu39Val) SNV Likely pathogenic 14753 rs121912432 21:33036145-33036145 21:31663832-31663832 AMY091 Amyotrophic Lateral Sclerosis 1 VCP NM_007126.5(VCP):c.283C>T (p.Arg95Cys) SNV Likely pathogenic 280124 rs121909332 9:35067907-35067907 9:35067910-35067910 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2002C>T (p.His668Tyr) SNV Conflicting interpretations of pathogenicity 337085 rs764443534 2:74595111-74595111 2:74367984-74367984 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1129A>C (p.Met377Leu) SNV Conflicting interpretations of pathogenicity 337090 rs570863800 2:74597471-74597471 2:74370344-74370344 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.586A>G (p.Ile196Val) SNV Conflicting interpretations of pathogenicity 337096 rs55862001 2:74598723-74598723 2:74371596-74371596 AMY091 Amyotrophic Lateral Sclerosis 1 CHRNA4 NM_000744.7(CHRNA4):c.442C>T (p.Arg148Trp) SNV Conflicting interpretations of pathogenicity 98324 rs121912243 20:61982321-61982321 20:63350969-63350969 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3529+5G>A SNV Conflicting interpretations of pathogenicity 284990 rs72466494 2:74590116-74590116 2:74362989-74362989 AMY091 Amyotrophic Lateral Sclerosis 1 NEFH NM_021076.4(NEFH):c.2368_2370del (p.Lys790del) deletion Conflicting interpretations of pathogenicity 66740 rs59551486 22:29885997-29885999 22:29490008-29490010 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.272A>C (p.Asp91Ala) SNV Conflicting interpretations of pathogenicity 14766 rs80265967 21:33039603-33039603 21:31667290-31667290 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3146G>A (p.Arg1049Gln) SNV Conflicting interpretations of pathogenicity 337078 rs72659383 2:74592252-74592252 2:74365125-74365125 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2278A>G (p.Met760Val) SNV Conflicting interpretations of pathogenicity 337081 rs754780894 2:74594210-74594210 2:74367083-74367083 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.60G>A (p.Ala20=) SNV Conflicting interpretations of pathogenicity 337097 rs150204862 2:74605346-74605346 2:74378219-74378219 AMY091 Amyotrophic Lateral Sclerosis 1 CHRNA4 NM_000744.7(CHRNA4):c.979G>A (p.Val327Met) SNV Conflicting interpretations of pathogenicity 835474 20:61981784-61981784 20:63350432-63350432 AMY091 Amyotrophic Lateral Sclerosis 1 PRPH NM_006262.4(PRPH):c.421G>T (p.Asp141Tyr) SNV Conflicting interpretations of pathogenicity 13707 rs58599399 12:49689404-49689404 12:49295621-49295621 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.5(SOD1):c.352C>G (p.Leu118Val) SNV Conflicting interpretations of pathogenicity 809280 21:33039683-33039683 21:31667370-31667370 AMY091 Amyotrophic Lateral Sclerosis 1 FIG4 NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) SNV Conflicting interpretations of pathogenicity 1721 rs121908287 6:110036336-110036336 6:109715133-109715133 AMY091 Amyotrophic Lateral Sclerosis 1 UBQLN2 NM_013444.3(UBQLN2):c.1573C>T (p.Pro525Ser) SNV Conflicting interpretations of pathogenicity 29954 rs369947678 X:56591879-56591879 X:56565446-56565446 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2559C>T (p.Ala853=) SNV Conflicting interpretations of pathogenicity 728350 2:74593655-74593655 2:74366528-74366528 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.122A>G (p.Glu41Gly) SNV Conflicting interpretations of pathogenicity 575420 rs1568809149 21:33036152-33036152 21:31663839-31663839 AMY091 Amyotrophic Lateral Sclerosis 1 PON3 NM_000940.3(PON3):c.94C>T (p.Arg32Ter) SNV Conflicting interpretations of pathogenicity 488870 rs147006695 7:95024007-95024007 7:95394695-95394695 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.673C>T (p.Arg225Trp) SNV Conflicting interpretations of pathogenicity 453052 rs371723224 2:74598276-74598276 2:74371149-74371149 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.837G>A (p.Ala279=) SNV Conflicting interpretations of pathogenicity 447239 rs72466489 2:74598112-74598112 2:74370985-74370985 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.442C>T (p.Arg148Trp) SNV Conflicting interpretations of pathogenicity 447238 rs148810193 2:74600066-74600066 2:74372939-74372939 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.59A>G (p.Asn20Ser) SNV Conflicting interpretations of pathogenicity 516816 rs768029813 21:33032141-33032141 21:31659828-31659828 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2633A>G (p.Tyr878Cys) SNV Conflicting interpretations of pathogenicity 568956 rs778201974 2:74593498-74593498 2:74366371-74366371 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3712C>G (p.Gln1238Glu) SNV Conflicting interpretations of pathogenicity 654711 2:74588751-74588751 2:74361624-74361624 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3643C>T (p.Pro1215Ser) SNV Uncertain significance 657312 2:74589235-74589235 2:74362108-74362108 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3545C>T (p.Ser1182Leu) SNV Uncertain significance 661256 2:74589841-74589841 2:74362714-74362714 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3425A>G (p.Glu1142Gly) SNV Uncertain significance 657154 2:74590225-74590225 2:74363098-74363098 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3382C>G (p.Pro1128Ala) SNV Uncertain significance 649963 2:74590268-74590268 2:74363141-74363141 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3217A>G (p.Ile1073Val) SNV Uncertain significance 656139 2:74590549-74590549 2:74363422-74363422 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3172A>T (p.Thr1058Ser) SNV Uncertain significance 654545 2:74592226-74592226 2:74365099-74365099 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3158C>T (p.Pro1053Leu) SNV Uncertain significance 655129 2:74592240-74592240 2:74365113-74365113 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2883T>G (p.Ile961Met) SNV Uncertain significance 662814 2:74593023-74593023 2:74365896-74365896 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2879A>G (p.Lys960Arg) SNV Uncertain significance 647047 2:74593027-74593027 2:74365900-74365900 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2872T>G (p.Ser958Ala) SNV Uncertain significance 655677 2:74593034-74593034 2:74365907-74365907 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2836G>A (p.Glu946Lys) SNV Uncertain significance 646084 2:74593070-74593070 2:74365943-74365943 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2779C>T (p.Arg927Trp) SNV Uncertain significance 650325 2:74593127-74593127 2:74366000-74366000 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2731dup (p.Glu911fs) duplication Uncertain significance 650790 2:74593399-74593400 2:74366272-74366273 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2551C>G (p.Leu851Val) SNV Uncertain significance 654179 2:74593663-74593663 2:74366536-74366536 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2467G>A (p.Val823Ile) SNV Uncertain significance 652089 2:74593747-74593747 2:74366620-74366620 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2427T>G (p.Asp809Glu) SNV Uncertain significance 649696 2:74593949-74593949 2:74366822-74366822 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2411G>A (p.Arg804Gln) SNV Uncertain significance 645944 2:74593965-74593965 2:74366838-74366838 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2384G>A (p.Arg795His) SNV Uncertain significance 652631 2:74593992-74593992 2:74366865-74366865 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2083C>T (p.His695Tyr) SNV Uncertain significance 661544 2:74594924-74594924 2:74367797-74367797 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2006G>A (p.Arg669His) SNV Uncertain significance 644992 2:74595107-74595107 2:74367980-74367980 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1936G>T (p.Ala646Ser) SNV Uncertain significance 653832 2:74595177-74595177 2:74368050-74368050 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1793G>A (p.Arg598Gln) SNV Uncertain significance 641474 2:74595916-74595916 2:74368789-74368789 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1780G>C (p.Asp594His) SNV Uncertain significance 648184 2:74595929-74595929 2:74368802-74368802 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1526C>T (p.Thr509Met) SNV Uncertain significance 660668 2:74596485-74596485 2:74369358-74369358 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1486G>C (p.Val496Leu) SNV Uncertain significance 649404 2:74596525-74596525 2:74369398-74369398 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1481C>T (p.Ala494Val) SNV Uncertain significance 644603 2:74596530-74596530 2:74369403-74369403 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1430A>G (p.Asn477Ser) SNV Uncertain significance 640876 2:74596581-74596581 2:74369454-74369454 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1316T>C (p.Met439Thr) SNV Uncertain significance 657980 2:74597168-74597168 2:74370041-74370041 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1225C>T (p.Arg409Trp) SNV Uncertain significance 648503 2:74597375-74597375 2:74370248-74370248 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.851A>G (p.Lys284Arg) SNV Uncertain significance 639176 2:74597945-74597945 2:74370818-74370818 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.821G>A (p.Arg274Gln) SNV Uncertain significance 641187 2:74598128-74598128 2:74371001-74371001 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.742C>G (p.Leu248Val) SNV Uncertain significance 662640 2:74598207-74598207 2:74371080-74371080 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.694G>C (p.Glu232Gln) SNV Uncertain significance 645250 2:74598255-74598255 2:74371128-74371128 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.458C>T (p.Thr153Met) SNV Uncertain significance 648872 2:74598851-74598851 2:74371724-74371724 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.424G>C (p.Ala142Pro) SNV Uncertain significance 641178 2:74601458-74601458 2:74374331-74374331 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.142_143delinsAT (p.Gly48Ile) indel Uncertain significance 658278 2:74605263-74605264 2:74378136-74378137 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.45C>T (p.Gly15=) SNV Uncertain significance 663856 2:74605361-74605361 2:74378234-74378234 AMY091 Amyotrophic Lateral Sclerosis 1 SQSTM1 NM_003900.5(SQSTM1):c.571G>A (p.Gly191Arg) SNV Uncertain significance 639243 5:179251221-179251221 5:179824221-179824221 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.56T>C (p.Ile19Thr) SNV Uncertain significance 652612 21:33032138-33032138 21:31659825-31659825 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.148G>A (p.Glu50Lys) SNV Uncertain significance 658902 21:33036178-33036178 21:31663865-31663865 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.416G>A (p.Gly139Glu) SNV Uncertain significance 649792 21:33040842-33040842 21:31668529-31668529 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1288-10C>G SNV Uncertain significance 662913 2:74597206-74597206 2:74370079-74370079 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1393-7G>A SNV Uncertain significance 653139 2:74596625-74596625 2:74369498-74369498 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1128-3C>G SNV Uncertain significance 654124 2:74597475-74597475 2:74370348-74370348 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2016-6C>A SNV Uncertain significance 656503 2:74594997-74594997 2:74367870-74367870 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1584+5A>G SNV Uncertain significance 658060 2:74596422-74596422 2:74369295-74369295 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1364G>A (p.Arg455His) SNV Uncertain significance 577645 rs763277715 2:74597120-74597120 2:74369993-74369993 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3824G>A (p.Arg1275His) SNV Uncertain significance 570076 rs560344779 2:74588639-74588639 2:74361512-74361512 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.559G>T (p.Ala187Ser) SNV Uncertain significance 536161 rs960727301 2:74598750-74598750 2:74371623-74371623 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3556A>G (p.Met1186Val) SNV Uncertain significance 570153 rs1477782343 2:74589830-74589830 2:74362703-74362703 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3215C>G (p.Ala1072Gly) SNV Uncertain significance 574007 rs780875333 2:74590551-74590551 2:74363424-74363424 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2986A>G (p.Thr996Ala) SNV Uncertain significance 582031 rs1558935430 2:74592685-74592685 2:74365558-74365558 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2909A>G (p.Asn970Ser) SNV Uncertain significance 566389 rs568812456 2:74592762-74592762 2:74365635-74365635 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1595G>A (p.Arg532Gln) SNV Uncertain significance 579780 rs759306485 2:74596331-74596331 2:74369204-74369204 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1388A>G (p.Asp463Gly) SNV Uncertain significance 576002 rs1558941192 2:74597096-74597096 2:74369969-74369969 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.460C>T (p.Arg154Cys) SNV Uncertain significance 574723 rs141670992 2:74598849-74598849 2:74371722-74371722 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.279+1G>T SNV Uncertain significance 565763 rs1393363759 2:74605126-74605126 2:74377999-74377999 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3557T>C (p.Met1186Thr) SNV Uncertain significance 572789 rs145819459 2:74589829-74589829 2:74362702-74362702 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2290G>A (p.Val764Ile) SNV Uncertain significance 565854 rs753618444 2:74594198-74594198 2:74367071-74367071 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1435C>T (p.Arg479Cys) SNV Uncertain significance 580500 rs1558940606 2:74596576-74596576 2:74369449-74369449 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.569C>T (p.Pro190Leu) SNV Uncertain significance 583330 rs765192491 2:74598740-74598740 2:74371613-74371613 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.446G>A (p.Arg149Gln) SNV Uncertain significance 565725 rs149447433 2:74600062-74600062 2:74372935-74372935 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.419C>T (p.Pro140Leu) SNV Uncertain significance 576560 rs147939455 2:74601463-74601463 2:74374336-74374336 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.232T>C (p.Tyr78His) SNV Uncertain significance 582950 rs1558948987 2:74605174-74605174 2:74378047-74378047 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2974G>A (p.Glu992Lys) SNV Uncertain significance 579633 rs768409522 2:74592697-74592697 2:74365570-74365570 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2747G>A (p.Arg916Gln) SNV Uncertain significance 571353 rs375079576 2:74593384-74593384 2:74366257-74366257 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2629-7C>A SNV Uncertain significance 576507 rs1278207608 2:74593509-74593509 2:74366382-74366382 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1997C>T (p.Thr666Met) SNV Uncertain significance 567916 rs143914684 2:74595116-74595116 2:74367989-74367989 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1807C>A (p.His603Asn) SNV Uncertain significance 578054 rs1558939544 2:74595902-74595902 2:74368775-74368775 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.823C>T (p.Arg275Cys) SNV Uncertain significance 567626 rs775294408 2:74598126-74598126 2:74370999-74370999 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.638C>T (p.Pro213Leu) SNV Uncertain significance 577659 rs754827026 2:74598671-74598671 2:74371544-74371544 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.629T>G (p.Leu210Arg) SNV Uncertain significance 566375 rs1558943273 2:74598680-74598680 2:74371553-74371553 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.626C>T (p.Pro209Leu) SNV Uncertain significance 580972 rs112725508 2:74598683-74598683 2:74371556-74371556 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3778C>T (p.His1260Tyr) SNV Uncertain significance 582305 rs1375787578 2:74588685-74588685 2:74361558-74361558 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3029+6G>T SNV Uncertain significance 574930 rs754143116 2:74592636-74592636 2:74365509-74365509 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2477C>T (p.Thr826Met) SNV Uncertain significance 536148 rs766585070 2:74593737-74593737 2:74366610-74366610 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1706T>A (p.Ile569Asn) SNV Uncertain significance 536156 rs1553464828 2:74596003-74596003 2:74368876-74368876 AMY091 Amyotrophic Lateral Sclerosis 1 OPTN NM_001008212.2(OPTN):c.275A>T (p.Glu92Val) SNV Uncertain significance 523078 rs202044898 10:13152382-13152382 10:13110382-13110382 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3803A>G (p.Gln1268Arg) SNV Uncertain significance 536155 rs751431467 2:74588660-74588660 2:74361533-74361533 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3449G>A (p.Arg1150His) SNV Uncertain significance 536158 rs771822061 2:74590201-74590201 2:74363074-74363074 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3652A>G (p.Thr1218Ala) SNV Uncertain significance 536146 rs886070472 2:74589226-74589226 2:74362099-74362099 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3254G>A (p.Gly1085Glu) SNV Uncertain significance 536151 rs1274754432 2:74590512-74590512 2:74363385-74363385 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3241G>A (p.Val1081Met) SNV Uncertain significance 536154 rs764028925 2:74590525-74590525 2:74363398-74363398 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3017G>A (p.Arg1006Gln) SNV Uncertain significance 536147 rs752882353 2:74592654-74592654 2:74365527-74365527 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3199G>T (p.Glu1067Ter) SNV Uncertain significance 536149 rs376996779 2:74590753-74590753 2:74363626-74363626 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2480T>C (p.Leu827Pro) SNV Uncertain significance 536145 rs1470946965 2:74593734-74593734 2:74366607-74366607 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2005C>T (p.Arg669Cys) SNV Uncertain significance 536162 rs150746209 2:74595108-74595108 2:74367981-74367981 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1752C>A (p.His584Gln) SNV Uncertain significance 536159 rs1345909454 2:74595957-74595957 2:74368830-74368830 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1288-6A>G SNV Uncertain significance 536164 rs1236101222 2:74597202-74597202 2:74370075-74370075 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1217G>A (p.Arg406Lys) SNV Uncertain significance 536144 rs1040712616 2:74597383-74597383 2:74370256-74370256 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1784G>A (p.Ser595Asn) SNV Uncertain significance 536157 rs1243051229 2:74595925-74595925 2:74368798-74368798 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1102G>A (p.Ala368Thr) SNV Uncertain significance 536152 rs1034996844 2:74597618-74597618 2:74370491-74370491 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.427C>T (p.Arg143Ter) SNV Uncertain significance 536163 rs781290307 2:74601455-74601455 2:74374328-74374328 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3127C>T (p.Arg1043Cys) SNV Uncertain significance 536153 rs140066692 2:74592271-74592271 2:74365144-74365144 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1255G>A (p.Ala419Thr) SNV Uncertain significance 536150 rs922032527 2:74597345-74597345 2:74370218-74370218 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.40A>G (p.Ser14Gly) SNV Uncertain significance 447237 rs758320436 2:74605366-74605366 2:74378239-74378239 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1816G>A (p.Val606Ile) SNV Uncertain significance 468259 rs375778151 2:74595893-74595893 2:74368766-74368766 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1606A>C (p.Asn536His) SNV Uncertain significance 468258 rs1553464927 2:74596320-74596320 2:74369193-74369193 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2339T>C (p.Ile780Thr) SNV Uncertain significance 468264 rs374163967 2:74594037-74594037 2:74366910-74366910 AMY091 Amyotrophic Lateral Sclerosis 1 CACNA1A NM_001127221.1(CACNA1A):c.2396A>T (p.Asp799Val) SNV Uncertain significance 397544 rs1060499675 19:13410054-13410054 19:13299240-13299240 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2647A>T (p.Ser883Cys) SNV Uncertain significance 422499 rs747769504 2:74593484-74593484 2:74366357-74366357 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3128G>A (p.Arg1043His) SNV Uncertain significance 425206 rs776489779 2:74592270-74592270 2:74365143-74365143 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2357A>G (p.Asp786Gly) SNV Uncertain significance 493281 rs752889408 2:74594019-74594019 2:74366892-74366892 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1324A>G (p.Met442Val) SNV Uncertain significance 468257 rs763480310 2:74597160-74597160 2:74370033-74370033 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.439A>G (p.Thr147Ala) SNV Uncertain significance 468276 rs371437767 2:74600069-74600069 2:74372942-74372942 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3137A>G (p.Glu1046Gly) SNV Uncertain significance 468271 rs145857843 2:74592261-74592261 2:74365134-74365134 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1928G>A (p.Arg643Gln) SNV Uncertain significance 468260 rs555733849 2:74595185-74595185 2:74368058-74368058 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1127+6G>A SNV Uncertain significance 468255 rs951022782 2:74597587-74597587 2:74370460-74370460 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.833A>T (p.Glu278Val) SNV Uncertain significance 468280 rs1553465344 2:74598116-74598116 2:74370989-74370989 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.376G>A (p.Ala126Thr) SNV Uncertain significance 468275 rs1553466338 2:74604576-74604576 2:74377449-74377449 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3533C>T (p.Ala1178Val) SNV Uncertain significance 468274 rs775442446 2:74589853-74589853 2:74362726-74362726 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.397_399GAA[1] (p.Glu134del) short repeat Uncertain significance 576569 rs1568811423 21:33040823-33040825 21:31668510-31668512 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.220G>A (p.Gly74Arg) SNV Uncertain significance 536143 rs1555836720 21:33038812-33038812 21:31666499-31666499 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.268G>A (p.Ala90Thr) SNV Uncertain significance 567744 rs1568810660 21:33039599-33039599 21:31667286-31667286 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3781C>T (p.Arg1261Trp) SNV Uncertain significance 640228 2:74588682-74588682 2:74361555-74361555 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3776G>A (p.Arg1259Gln) SNV Uncertain significance 643909 2:74588687-74588687 2:74361560-74361560 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3760G>T (p.Ala1254Ser) SNV Uncertain significance 640080 2:74588703-74588703 2:74361576-74361576 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3728T>C (p.Val1243Ala) SNV Uncertain significance 665455 2:74588735-74588735 2:74361608-74361608 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.843+5G>T SNV Uncertain significance 447240 rs757238618 2:74598101-74598101 2:74370974-74370974 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2540C>G (p.Ala847Gly) SNV Uncertain significance 801726 2:74593674-74593674 2:74366547-74366547 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.100G>C (p.Glu34Gln) SNV Uncertain significance 808781 2:74605306-74605306 2:74378179-74378179 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.5(SOD1):c.263T>C (p.Val88Ala) SNV Uncertain significance 858432 21:33039594-33039594 21:31667281-31667281 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NC_000002.12:g.74376736C>T SNV Uncertain significance 840193 2:74603863-74603863 2:74376736-74376736 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NC_000002.12:g.74376772G>T SNV Uncertain significance 855051 2:74603899-74603899 2:74376772-74376772 AMY091 Amyotrophic Lateral Sclerosis 1 ERBB4 NM_005235.3(ERBB4):c.2518G>A (p.Val840Ile) SNV Uncertain significance 873236 2:212295795-212295795 2:211431070-211431070 AMY091 Amyotrophic Lateral Sclerosis 1 ERBB4 NM_005235.3(ERBB4):c.655G>A (p.Gly219Ser) SNV Uncertain significance 873238 2:212589887-212589887 2:211725162-211725162 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NC_000002.12:g.74361586G>C SNV Uncertain significance 835939 2:74588713-74588713 2:74361586-74361586 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NC_000002.12:g.74362111G>A SNV Uncertain significance 844403 2:74589238-74589238 2:74362111-74362111 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NC_000002.12:g.74363083G>A SNV Uncertain significance 863932 2:74590210-74590210 2:74363083-74363083 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NC_000002.12:g.74365984C>T SNV Uncertain significance 839578 2:74593111-74593111 2:74365984-74365984 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NC_000002.12:g.74365987dup duplication Uncertain significance 851699 2:74593112-74593113 2:74365985-74365986 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NC_000002.12:g.74366318G>C SNV Uncertain significance 848831 2:74593445-74593445 2:74366318-74366318 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NC_000002.12:g.74366878A>G SNV Uncertain significance 852663 2:74594005-74594005 2:74366878-74366878 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NC_000002.12:g.74367058C>T SNV Uncertain significance 856546 2:74594185-74594185 2:74367058-74367058 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NC_000002.12:g.74368835G>C SNV Uncertain significance 858167 2:74595962-74595962 2:74368835-74368835 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NC_000002.12:g.74369311C>T SNV Uncertain significance 845556 2:74596438-74596438 2:74369311-74369311 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NC_000002.12:g.74369380G>A SNV Uncertain significance 843850 2:74596507-74596507 2:74369380-74369380 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NC_000002.12:g.74370214T>C SNV Uncertain significance 836640 2:74597341-74597341 2:74370214-74370214 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NC_000002.12:g.74370247C>T SNV Uncertain significance 844212 2:74597374-74597374 2:74370247-74370247 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NC_000002.12:g.74370795G>A SNV Uncertain significance 861784 2:74597922-74597922 2:74370795-74370795 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NC_000002.12:g.74370987C>T SNV Uncertain significance 841138 2:74598114-74598114 2:74370987-74370987 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NC_000002.12:g.74371148C>T SNV Uncertain significance 862813 2:74598275-74598275 2:74371148-74371148 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NC_000002.12:g.74371550G>A SNV Uncertain significance 847069 2:74598677-74598677 2:74371550-74371550 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NC_000002.12:g.74371643C>T SNV Uncertain significance 844946 2:74598770-74598770 2:74371643-74371643 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NC_000002.12:g.74371664G>A SNV Uncertain significance 856593 2:74598791-74598791 2:74371664-74371664 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NC_000002.12:g.74372938C>T SNV Uncertain significance 854179 2:74600065-74600065 2:74372938-74372938 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NC_000002.12:g.74377674G>C SNV Uncertain significance 834539 2:74604801-74604801 2:74377674-74377674 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NC_000002.12:g.74377719A>G SNV Uncertain significance 854775 2:74604846-74604846 2:74377719-74377719 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NC_000002.12:g.74378021G>A SNV Uncertain significance 861111 2:74605148-74605148 2:74378021-74378021 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NC_000002.12:g.74378101C>T SNV Uncertain significance 851216 2:74605228-74605228 2:74378101-74378101 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NC_000002.12:g.74367361G>C SNV Uncertain significance 873284 2:74594488-74594488 2:74367361-74367361 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NC_000002.12:g.74367368A>G SNV Uncertain significance 873285 2:74594495-74594495 2:74367368-74367368 AMY091 Amyotrophic Lateral Sclerosis 1 CHRNB4 NM_000750.5(CHRNB4):c.116G>T (p.Arg39Leu) SNV Uncertain significance 873210 15:78927869-78927869 15:78635527-78635527 AMY091 Amyotrophic Lateral Sclerosis 1 PFN1 NM_005022.4(PFN1):c.37G>A (p.Ala13Thr) SNV Uncertain significance 873277 17:4851653-4851653 17:4948358-4948358 AMY091 Amyotrophic Lateral Sclerosis 1 PNPLA6 NM_001166114.2(PNPLA6):c.649G>T (p.Gly217Cys) SNV Uncertain significance 873302 19:7605129-7605129 19:7540243-7540243 AMY091 Amyotrophic Lateral Sclerosis 1 PNPLA6 NM_001166114.2(PNPLA6):c.3028G>A (p.Gly1010Arg) SNV Uncertain significance 873303 19:7620584-7620584 19:7555698-7555698 AMY091 Amyotrophic Lateral Sclerosis 1 CHRNA4 NM_000744.7(CHRNA4):c.656A>C (p.Asn219Thr) SNV Uncertain significance 873207 20:61982107-61982107 20:63350755-63350755 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2353C>T (p.Arg785Trp) SNV Uncertain significance 8404 rs121909344 2:74594023-74594023 2:74366896-74366896 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.5(SOD1):c.63C>G (p.Phe21Leu) SNV Uncertain significance 859765 21:33032145-33032145 21:31659832-31659832 AMY091 Amyotrophic Lateral Sclerosis 1 ERBB4 NM_005235.3(ERBB4):c.158A>G (p.Tyr53Cys) SNV Uncertain significance 873237 2:212989553-212989553 2:212124828-212124828 AMY091 Amyotrophic Lateral Sclerosis 1 NEK1 NM_001199397.3(NEK1):c.1900G>T (p.Glu634Ter) SNV Uncertain significance 873276 4:170428877-170428877 4:169507726-169507726 AMY091 Amyotrophic Lateral Sclerosis 1 FIG4 NM_014845.6(FIG4):c.1448G>A (p.Arg483Gln) SNV Uncertain significance 873301 6:110086229-110086229 6:109765026-109765026 AMY091 Amyotrophic Lateral Sclerosis 1 PON1 NM_000446.7(PON1):c.707A>G (p.Tyr236Cys) SNV Uncertain significance 873305 7:94935670-94935670 7:95306358-95306358 AMY091 Amyotrophic Lateral Sclerosis 1 ELP3 NM_018091.6(ELP3):c.1385G>A (p.Arg462His) SNV Uncertain significance 873300 8:28017873-28017873 8:28160356-28160356 AMY091 Amyotrophic Lateral Sclerosis 1 SETX NM_015046.7(SETX):c.6248G>T (p.Arg2083Ile) SNV Uncertain significance 873275 9:135163699-135163699 9:132288312-132288312 AMY091 Amyotrophic Lateral Sclerosis 1 DAO NM_001917.5(DAO):c.212C>T (p.Thr71Ile) SNV Uncertain significance 873279 12:109281243-109281243 12:108887467-108887467 AMY091 Amyotrophic Lateral Sclerosis 1 DAO NM_001917.5(DAO):c.962G>A (p.Gly321Glu) SNV Uncertain significance 873281 12:109294229-109294229 12:108900453-108900453 AMY091 Amyotrophic Lateral Sclerosis 1 PRPH NM_006262.4(PRPH):c.190C>T (p.Arg64Ter) SNV Uncertain significance 873306 12:49689173-49689173 12:49295390-49295390 AMY091 Amyotrophic Lateral Sclerosis 1 ANG NM_001097577.3(ANG):c.324dup (p.Gly109fs) duplication Uncertain significance 873274 14:21162046-21162047 14:20693887-20693888 AMY091 Amyotrophic Lateral Sclerosis 1 CHRNA3 NM_000743.5(CHRNA3):c.752C>G (p.Pro251Arg) SNV Uncertain significance 873307 15:78894232-78894232 15:78601890-78601890 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NC_000021.9:g.31659679C>G SNV Uncertain significance 896435 21:33031992-33031992 21:31659679-31659679 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NC_000021.9:g.31659683G>A SNV Uncertain significance 896436 21:33031996-33031996 21:31659683-31659683 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NC_000021.9:g.31659683G>C SNV Uncertain significance 898063 21:33031996-33031996 21:31659683-31659683 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.5(SOD1):c.75A>G (p.Glu25=) SNV Uncertain significance 899184 21:33036105-33036105 21:31663792-31663792 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.5(SOD1):c.328G>T (p.Asp110Tyr) SNV Uncertain significance 899185 21:33039659-33039659 21:31667346-31667346 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.5(SOD1):c.420C>T (p.Asn140=) SNV Uncertain significance 899186 21:33040846-33040846 21:31668533-31668533 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.5(SOD1):c.457G>A (p.Ala153Thr) SNV Uncertain significance 899187 21:33040883-33040883 21:31668570-31668570 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.5(SOD1):c.*153T>G SNV Uncertain significance 899188 21:33041044-33041044 21:31668731-31668731 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.5(SOD1):c.*198G>A SNV Uncertain significance 895067 21:33041089-33041089 21:31668776-31668776 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.-55C>T SNV Uncertain significance 339665 rs16988395 21:33032028-33032028 21:31659715-31659715 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.-56T>A SNV Uncertain significance 339663 rs535066119 21:33032027-33032027 21:31659714-31659714 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.66G>A (p.Glu22=) SNV Uncertain significance 339668 rs756458346 21:33032148-33032148 21:31659835-31659835 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.-84C>G SNV Uncertain significance 339661 rs573544165 21:33031999-33031999 21:31659686-31659686 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.-55C>G SNV Uncertain significance 339664 rs16988395 21:33032028-33032028 21:31659715-31659715 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.59C>T (p.Ala20Val) SNV Uncertain significance 337098 rs773420384 2:74605347-74605347 2:74378220-74378220 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.167A>G (p.Lys56Arg) SNV Uncertain significance 264686 rs566433112 2:74605239-74605239 2:74378112-74378112 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.824G>A (p.Arg275His) SNV Uncertain significance 393157 rs375266113 2:74598125-74598125 2:74370998-74370998 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.557C>T (p.Pro186Leu) SNV Uncertain significance 391470 rs916359967 2:74598752-74598752 2:74371625-74371625 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2209G>A (p.Glu737Lys) SNV Uncertain significance 194953 rs377183051 2:74594523-74594523 2:74367396-74367396 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3759G>A (p.Ala1253=) SNV Uncertain significance 337068 rs886056328 2:74588704-74588704 2:74361577-74361577 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.414+1G>A SNV Uncertain significance 282607 rs576198476 2:74603868-74603868 2:74376741-74376741 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.-26A>G SNV Likely benign 339667 rs571199057 21:33032057-33032057 21:31659744-31659744 AMY091 Amyotrophic Lateral Sclerosis 1 DAO NM_001917.5(DAO):c.46G>A (p.Ala16Thr) SNV Likely benign 873278 12:109278828-109278828 12:108885052-108885052 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2269C>T (p.Leu757=) SNV Likely benign 742690 2:74594219-74594219 2:74367092-74367092 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.702G>T (p.Leu234=) SNV Likely benign 748975 2:74598247-74598247 2:74371120-74371120 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.90C>T (p.Gly30=) SNV Likely benign 741902 2:74605316-74605316 2:74378189-74378189 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3075G>A (p.Gln1025=) SNV Likely benign 757026 2:74592323-74592323 2:74365196-74365196 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.279+10C>T SNV Likely benign 761207 2:74605117-74605117 2:74377990-74377990 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1986G>A (p.Leu662=) SNV Likely benign 800016 2:74595127-74595127 2:74368000-74368000 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.663G>A (p.Arg221=) SNV Likely benign 797801 2:74598286-74598286 2:74371159-74371159 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.432+10C>T SNV Likely benign 800051 2:74601440-74601440 2:74374313-74374313 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1470C>T (p.Asp490=) SNV Likely benign 703876 2:74596541-74596541 2:74369414-74369414 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.5(SOD1):c.195T>C (p.Phe65=) SNV Likely benign 703873 21:33038787-33038787 21:31666474-31666474 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3699+5dup duplication Likely benign 703434 2:74589169-74589170 2:74362042-74362043 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3212-10G>A SNV Likely benign 705947 2:74590564-74590564 2:74363437-74363437 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.280-3C>T SNV Likely benign 702720 2:74604856-74604856 2:74377729-74377729 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.5(SOD1):c.73-4A>G SNV Likely benign 703977 21:33036099-33036099 21:31663786-31663786 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3721G>A (p.Asp1241Asn) SNV Likely benign 774034 2:74588742-74588742 2:74361615-74361615 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.228G>A (p.Arg76=) SNV Likely benign 767611 2:74605178-74605178 2:74378051-74378051 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1155G>A (p.Lys385=) SNV Likely benign 717996 2:74597445-74597445 2:74370318-74370318 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.5(SOD1):c.180T>C (p.Ser60=) SNV Likely benign 720157 21:33038772-33038772 21:31666459-31666459 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3543G>A (p.Pro1181=) SNV Likely benign 704540 2:74589843-74589843 2:74362716-74362716 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3003C>T (p.Thr1001=) SNV Likely benign 705189 2:74592668-74592668 2:74365541-74365541 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3501C>T (p.His1167=) SNV Likely benign 468273 rs569997015 2:74590149-74590149 2:74363022-74363022 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3312C>T (p.Ile1104=) SNV Likely benign 468272 rs777452161 2:74590454-74590454 2:74363327-74363327 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.654G>A (p.Glu218=) SNV Likely benign 468277 rs758731839 2:74598295-74598295 2:74371168-74371168 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2544T>C (p.Ala848=) SNV Likely benign 468266 rs1371265373 2:74593670-74593670 2:74366543-74366543 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2254-5C>T SNV Likely benign 468263 rs746514094 2:74594239-74594239 2:74367112-74367112 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2254-10A>G SNV Likely benign 468262 rs954787850 2:74594244-74594244 2:74367117-74367117 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3228G>A (p.Gln1076=) SNV Likely benign 468270 rs202237523 2:74590538-74590538 2:74363411-74363411 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1251C>T (p.Ser417=) SNV Likely benign 536176 rs1553465163 2:74597349-74597349 2:74370222-74370222 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.759C>T (p.Ile253=) SNV Likely benign 536180 rs1553465355 2:74598190-74598190 2:74371063-74371063 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3597C>T (p.Val1199=) SNV Likely benign 536167 rs767954436 2:74589789-74589789 2:74362662-74362662 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3069C>T (p.Ile1023=) SNV Likely benign 536183 rs780292959 2:74592329-74592329 2:74365202-74365202 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2205T>G (p.Leu735=) SNV Likely benign 536172 rs773099597 2:74594527-74594527 2:74367400-74367400 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.159C>T (p.Ala53=) SNV Likely benign 536169 rs759530214 2:74605247-74605247 2:74378120-74378120 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.288A>G (p.Val96=) SNV Likely benign 536174 rs1553466396 2:74604845-74604845 2:74377718-74377718 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1926G>A (p.Leu642=) SNV Likely benign 536171 rs758298791 2:74595187-74595187 2:74368060-74368060 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2605C>T (p.Leu869=) SNV Likely benign 536179 rs148511573 2:74593609-74593609 2:74366482-74366482 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2217T>G (p.Pro739=) SNV Likely benign 536168 rs1553464448 2:74594515-74594515 2:74367388-74367388 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2238G>A (p.Leu746=) SNV Likely benign 536177 rs1553464441 2:74594494-74594494 2:74367367-74367367 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.42C>T (p.Ser14=) SNV Likely benign 536182 rs535554555 2:74605364-74605364 2:74378237-74378237 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3558G>A (p.Met1186Ile) SNV Likely benign 536160 rs200834352 2:74589828-74589828 2:74362701-74362701 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3132G>C (p.Thr1044=) SNV Likely benign 536173 rs375157202 2:74592266-74592266 2:74365139-74365139 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3799G>A (p.Glu1267Lys) SNV Likely benign 569319 rs146083590 2:74588664-74588664 2:74361537-74361537 AMY091 Amyotrophic Lateral Sclerosis 1 NEFH NM_021076.4(NEFH):c.1740C>T (p.Ser580=) SNV Benign/Likely benign 522276 rs114263951 22:29885369-29885369 22:29489380-29489380 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.279+8C>T SNV Benign/Likely benign 536175 rs376401397 2:74605119-74605119 2:74377992-74377992 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3643C>G (p.Pro1215Ala) SNV Benign/Likely benign 536181 rs184147813 2:74589235-74589235 2:74362108-74362108 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2019C>T (p.Ala673=) SNV Benign/Likely benign 468261 rs372482596 2:74594988-74594988 2:74367861-74367861 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2805C>G (p.Ile935Met) SNV Benign/Likely benign 468268 rs145130328 2:74593101-74593101 2:74365974-74365974 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2952C>G (p.Ala984=) SNV Benign/Likely benign 468269 rs371241720 2:74592719-74592719 2:74365592-74365592 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2432C>G (p.Pro811Arg) SNV Benign/Likely benign 468265 rs150928856 2:74593944-74593944 2:74366817-74366817 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.788G>T (p.Ser263Ile) SNV Benign/Likely benign 468279 rs368273709 2:74598161-74598161 2:74371034-74371034 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1504C>A (p.Arg502Ser) SNV Benign/Likely benign 706130 2:74596507-74596507 2:74369380-74369380 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.597G>A (p.Pro199=) SNV Benign/Likely benign 705963 2:74598712-74598712 2:74371585-74371585 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.570G>A (p.Pro190=) SNV Benign/Likely benign 775482 2:74598739-74598739 2:74371612-74371612 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3746C>T (p.Thr1249Ile) SNV Benign/Likely benign 8402 rs72466496 2:74588717-74588717 2:74361590-74361590 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3490A>G (p.Thr1164Ala) SNV Benign/Likely benign 337074 rs72466493 2:74590160-74590160 2:74363033-74363033 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.999C>G (p.Asp333Glu) SNV Benign/Likely benign 337092 rs200952455 2:74597797-74597797 2:74370670-74370670 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.423T>A (p.Ala141=) SNV Benign/Likely benign 339669 rs143100660 21:33040849-33040849 21:31668536-31668536 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3782G>A (p.Arg1261Gln) SNV Benign/Likely benign 337067 rs553822174 2:74588681-74588681 2:74361554-74361554 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2505G>A (p.Thr835=) SNV Benign/Likely benign 337080 rs767877041 2:74593709-74593709 2:74366582-74366582 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2258C>T (p.Thr753Met) SNV Benign/Likely benign 337082 rs143763184 2:74594230-74594230 2:74367103-74367103 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.558G>A (p.Pro186=) SNV Benign/Likely benign 259240 rs201078804 2:74598751-74598751 2:74371624-74371624 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.*2C>T SNV Benign/Likely benign 256201 rs1804447 21:33040893-33040893 21:31668580-31668580 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2646C>T (p.Ser882=) SNV Benign/Likely benign 259236 rs191073199 2:74593485-74593485 2:74366358-74366358 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2448A>G (p.Ala816=) SNV Benign 259235 rs1130484 2:74593928-74593928 2:74366801-74366801 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1605A>G (p.Thr535=) SNV Benign 259233 rs13429423 2:74596321-74596321 2:74369194-74369194 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1484G>A (p.Arg495Gln) SNV Benign 259232 rs17721059 2:74596527-74596527 2:74369400-74369400 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1288-3C>T SNV Benign 259231 rs72466490 2:74597199-74597199 2:74370072-74370072 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.859C>A (p.Leu287Met) SNV Benign 259241 rs13420401 2:74597937-74597937 2:74370810-74370810 AMY091 Amyotrophic Lateral Sclerosis 1 NEFH NM_021076.4(NEFH):c.2414A>C (p.Glu805Ala) SNV Benign 66741 rs165602 22:29886043-29886043 22:29490054-29490054 AMY091 Amyotrophic Lateral Sclerosis 1 NEFH NM_021076.4(NEFH):c.2784A>G (p.Val928=) SNV Benign 66743 rs165625 22:29886413-29886413 22:29490424-29490424 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1617A>G (p.Glu539=) SNV Benign 289451 rs139061654 2:74596309-74596309 2:74369182-74369182 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3594C>T (p.Thr1198=) SNV Benign 337070 rs115689748 2:74589792-74589792 2:74362665-74362665 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2213A>G (p.Gln738Arg) SNV Benign 337083 rs143800457 2:74594519-74594519 2:74367392-74367392 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3519C>T (p.Arg1173=) SNV Benign 337072 rs146094433 2:74590131-74590131 2:74363004-74363004 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3498G>A (p.Thr1166=) SNV Benign 337073 rs142030960 2:74590152-74590152 2:74363025-74363025 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.-48T>A SNV Benign 339666 rs142752986 21:33032035-33032035 21:31659722-31659722 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.-109A>G SNV Benign 339660 rs7277748 21:33031974-33031974 21:31659661-31659661 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.*339C>T SNV Benign 339670 rs17880487 21:33041230-33041230 21:31668917-31668917 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.-83T>C SNV Benign 339662 rs377427683 21:33032000-33032000 21:31659687-31659687 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NC_000002.12:g.74378185G>A SNV Benign 873286 2:74605312-74605312 2:74378185-74378185 AMY091 Amyotrophic Lateral Sclerosis 1 NEFH NM_021076.4(NEFH):c.1387G>A (p.Glu463Lys) SNV Benign 66729 rs59371099 22:29885016-29885016 22:29489027-29489027 AMY091 Amyotrophic Lateral Sclerosis 1 NEFH NM_021076.4(NEFH):c.1844C>T (p.Pro615Leu) SNV Benign 66733 rs5763269 22:29885473-29885473 22:29489484-29489484 AMY091 Amyotrophic Lateral Sclerosis 1 NEFH NM_021076.4(NEFH):c.2232_2249del (p.746_751SPEKAK[1]) deletion Benign 66738 rs59890097 22:29885859-29885876 22:29489870-29489887 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NC_000002.12:g.74365985G>A SNV Benign 873282 2:74593112-74593112 2:74365985-74365985 AMY091 Amyotrophic Lateral Sclerosis 1 CHRNB4 NM_000750.5(CHRNB4):c.1304C>T (p.Ala435Val) SNV Benign 873208 15:78921343-78921343 15:78629001-78629001 AMY091 Amyotrophic Lateral Sclerosis 1 CHRNB4 NM_000750.5(CHRNB4):c.498C>G (p.Asn166Lys) SNV Benign 873209 15:78922149-78922149 15:78629807-78629807 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.5(SOD1):c.*317T>C SNV Benign 895068 21:33041208-33041208 21:31668895-31668895 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.999C>T (p.Asp333=) SNV Benign 771985 2:74597797-74597797 2:74370670-74370670 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1702-7C>T SNV Benign 706756 2:74596014-74596014 2:74368887-74368887 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3529+8C>T SNV Benign 706755 2:74590113-74590113 2:74362986-74362986 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.858G>T (p.Ala286=) SNV Benign 704118 2:74597938-74597938 2:74370811-74370811 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3573G>A (p.Gln1191=) SNV Benign 585767 rs137966704 2:74589813-74589813 2:74362686-74362686 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1998G>A (p.Thr666=) SNV Benign 585766 rs149900553 2:74595115-74595115 2:74367988-74367988 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.627G>T (p.Pro209=) SNV Benign 585768 rs147673066 2:74598682-74598682 2:74371555-74371555 AMY091 Amyotrophic Lateral Sclerosis 1 ERBB4 NM_005235.3(ERBB4):c.308G>A (p.Arg103His) SNV Benign 873273 2:212812268-212812268 2:211947543-211947543 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.3546G>A (p.Ser1182=) SNV Benign 743587 2:74589840-74589840 2:74362713-74362713 AMY091 Amyotrophic Lateral Sclerosis 1 SOD1 NM_000454.4(SOD1):c.73-108T>A SNV Benign 440292 rs16988404 21:33035995-33035995 21:31663682-31663682 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.2649C>T (p.Ser883=) SNV Benign 468267 rs140986485 2:74593482-74593482 2:74366355-74366355 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.1095G>A (p.Glu365=) SNV Benign 468254 rs115088049 2:74597625-74597625 2:74370498-74370498 AMY091 Amyotrophic Lateral Sclerosis 1 DCTN1 NM_004082.4(DCTN1):c.72C>T (p.Ala24=) SNV Benign 468278 rs368633620 2:74605334-74605334 2:74378207-74378207 AMY091 Amyotrophic Lateral Sclerosis 1 NEFH NM_021076.4(NEFH):c.1947_1964dup (p.646_651AKSPEK[3]) duplication Benign 522277 rs147489453 22:29885567-29885568 22:29489578-29489579 AMY091 Amyotrophic Lateral Sclerosis 1 NEFH NM_021076.4(NEFH):c.2232T>C (p.Ala744=) SNV Benign 522183 rs165923 22:29885861-29885861 22:29489872-29489872 AMY091 Amyotrophic Lateral Sclerosis 1 NEFH NM_021076.4(NEFH):c.1200C>T (p.Ala400=) SNV Benign 522275 rs165734 22:29881828-29881828 22:29485839-29485839 AMY091 Amyotrophic Lateral Sclerosis 1 ATP8 NC_012920.1:m.8420_8421insATA insertion Pathogenic 626321 rs1569484208 MT:8418-8419 MT:8418-8419 ART115 Aortic Valve Disease 1 NOTCH1 NOTCH1, PRO1797HIS SNV Pathogenic 635566 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.3319C>T (p.Arg1107Ter) SNV Pathogenic 12476 rs41309764 9:139402690-139402690 9:136508238-136508238 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.4512del (p.Cys1505fs) deletion Pathogenic 12477 rs41309766 9:139399836-139399836 9:136505384-136505384 ART115 Aortic Valve Disease 1 SOS1 NM_005633.3(SOS1):c.1655G>C (p.Arg552Thr) SNV Pathogenic 40682 rs397517154 2:39249914-39249914 2:39022773-39022773 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.3765C>A (p.Cys1255Ter) SNV Pathogenic 221997 rs1057515423 9:139401304-139401304 9:136506852-136506852 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.2439C>G (p.Tyr813Ter) SNV Pathogenic 221998 rs1057515422 9:139407501-139407501 9:136513049-136513049 ART115 Aortic Valve Disease 1 DSP NM_004415.4(DSP):c.2528C>A (p.Ser843Ter) SNV Pathogenic 374137 rs1057518920 6:7575619-7575619 6:7575386-7575386 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.6348C>G (p.Tyr2116Ter) SNV Pathogenic 374271 rs1057518661 9:139391843-139391843 9:136497391-136497391 ART115 Aortic Valve Disease 1 ZWILCH GRCh37/hg19 15q22.31-22.33(chr15:66825594-67400490) copy number loss Pathogenic 590960 15:66817545-67418205 ART115 Aortic Valve Disease 1 LCTL GRCh37/hg19 15q22.31-22.33(chr15:66825594-67400490) copy number loss Pathogenic 590960 15:66817545-67418205 ART115 Aortic Valve Disease 1 SMAD3 GRCh37/hg19 15q22.31-22.33(chr15:66825594-67400490) copy number loss Pathogenic 590960 15:66817545-67418205 ART115 Aortic Valve Disease 1 SMAD6 GRCh37/hg19 15q22.31-22.33(chr15:66825594-67400490) copy number loss Pathogenic 590960 15:66817545-67418205 ART115 Aortic Valve Disease 1 SMAD6 NM_005585.5(SMAD6):c.770C>T (p.Pro257Leu) SNV Pathogenic 590966 rs1567092020 15:66996366-66996366 15:66704028-66704028 ART115 Aortic Valve Disease 1 ATP6 NC_012920.1:m.8751_8752insAAA insertion Pathogenic 590899 rs1569484234 MT:8750-8751 MT:8750-8751 ART115 Aortic Valve Disease 1 ROBO4 NM_019055.6(ROBO4):c.190C>T (p.Arg64Cys) SNV Likely pathogenic 560394 rs201393279 11:124767038-124767038 11:124897142-124897142 ART115 Aortic Valve Disease 1 ROBO4 NM_019055.6(ROBO4):c.283G>A (p.Ala95Thr) SNV Likely pathogenic 560395 rs138370967 11:124766945-124766945 11:124897049-124897049 ART115 Aortic Valve Disease 1 ROBO4 NM_019055.6(ROBO4):c.695C>T (p.Thr232Met) SNV Likely pathogenic 560396 rs150700978 11:124765793-124765793 11:124895897-124895897 ART115 Aortic Valve Disease 1 ROBO4 NM_019055.6(ROBO4):c.740T>C (p.Val247Ala) SNV Likely pathogenic 560399 rs779392207 11:124765748-124765748 11:124895852-124895852 ART115 Aortic Valve Disease 1 ROBO4 NM_019055.6(ROBO4):c.839A>C (p.Tyr280Ser) SNV Likely pathogenic 560400 rs755747435 11:124765550-124765550 11:124895654-124895654 ART115 Aortic Valve Disease 1 ROBO4 NM_019055.6(ROBO4):c.1233T>A (p.His411Gln) SNV Likely pathogenic 560397 rs1565326476 11:124764182-124764182 11:124894286-124894286 ART115 Aortic Valve Disease 1 SMAD6 NM_005585.5(SMAD6):c.1004C>A (p.Ala335Glu) SNV Likely pathogenic 590965 rs900988907 15:67073386-67073386 15:66781048-66781048 ART115 Aortic Valve Disease 1 TAB2 NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter) SNV Likely pathogenic 373443 rs1057518422 6:149700090-149700090 6:149378954-149378954 ART115 Aortic Valve Disease 1 DSG1 NM_001942.4(DSG1):c.604G>T (p.Glu202Ter) SNV Likely pathogenic 373942 rs1057518788 18:28911750-28911750 18:31331787-31331787 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.2380del (p.Glu794fs) deletion Likely pathogenic 216971 rs863224901 9:139407560-139407560 9:136513108-136513108 ART115 Aortic Valve Disease 1 ROBO4 NM_019055.6(ROBO4):c.2245_2246delinsCT (p.Ala749Leu) indel Likely pathogenic 560402 rs1565322176 11:124757062-124757063 11:124887166-124887167 ART115 Aortic Valve Disease 1 ROBO4 NM_019055.6(ROBO4):c.2056+1G>T SNV Likely pathogenic 560404 rs764038221 11:124757628-124757628 11:124887732-124887732 ART115 Aortic Valve Disease 1 ROBO4 NM_019055.6(ROBO4):c.1864G>C (p.Asp622His) SNV Likely pathogenic 560401 rs138111911 11:124761279-124761279 11:124891383-124891383 ART115 Aortic Valve Disease 1 ROBO4 NM_019055.6(ROBO4):c.1601_1614del (p.Gly534fs) deletion Likely pathogenic 560405 rs755569942 11:124761632-124761645 11:124891736-124891749 ART115 Aortic Valve Disease 1 ROBO4 NM_019055.6(ROBO4):c.1702C>T (p.Arg568Ter) SNV Likely pathogenic 560398 rs201492213 11:124761441-124761441 11:124891545-124891545 ART115 Aortic Valve Disease 1 SMAD6 NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter) SNV Conflicting interpretations of pathogenicity 471759 rs1246889300 15:66995638-66995638 15:66703300-66703300 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu) SNV Conflicting interpretations of pathogenicity 409080 rs375897519 9:139396919-139396919 9:136502467-136502467 ART115 Aortic Valve Disease 1 COL5A1 NM_001278074.1(COL5A1):c.514G>T (p.Val172Phe) SNV Conflicting interpretations of pathogenicity 180298 rs150147262 9:137593039-137593039 9:134701193-134701193 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val) SNV Conflicting interpretations of pathogenicity 134907 rs369067940 9:139410139-139410139 9:136515687-136515687 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) SNV Conflicting interpretations of pathogenicity 134921 rs201620358 9:139405111-139405111 9:136510659-136510659 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.1295C>T (p.Thr432Met) SNV Conflicting interpretations of pathogenicity 520096 rs200562991 9:139412350-139412350 9:136517898-136517898 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.1787C>T (p.Thr596Met) SNV Conflicting interpretations of pathogenicity 264528 rs61755997 9:139410051-139410051 9:136515599-136515599 ART115 Aortic Valve Disease 1 SMAD6 NM_005585.5(SMAD6):c.794del (p.His265fs) deletion Conflicting interpretations of pathogenicity 590964 rs1567092071 15:66996390-66996390 15:66704052-66704052 ART115 Aortic Valve Disease 1 LSM1 NM_014462.3(LSM1):c.231+4A>C SNV Uncertain significance 623485 rs775468919 8:38027316-38027316 8:38169798-38169798 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn) SNV Uncertain significance 264044 rs763187824 9:139413985-139413985 9:136519533-136519533 ART115 Aortic Valve Disease 1 ROBO4 NM_019055.6(ROBO4):c.1529A>T (p.Asp510Val) SNV Uncertain significance 560403 rs1565325937 11:124763602-124763602 11:124893706-124893706 ART115 Aortic Valve Disease 1 SMAD6 NM_005585.5(SMAD6):c.692G>C (p.Arg231Pro) SNV Uncertain significance 590963 rs1419095990 15:66996288-66996288 15:66703950-66703950 ART115 Aortic Valve Disease 1 SMAD6 NM_005585.5(SMAD6):c.691C>G (p.Arg231Gly) SNV Uncertain significance 590962 rs1395007983 15:66996287-66996287 15:66703949-66703949 ART115 Aortic Valve Disease 1 SMAD6 NM_005585.5(SMAD6):c.611G>C (p.Gly204Ala) SNV Uncertain significance 590961 rs768542939 15:66996207-66996207 15:66703869-66703869 ART115 Aortic Valve Disease 1 DGCR6 GRCh37/hg19 22q11.21(chr22:18844632-19008108) copy number loss Uncertain significance 590955 22:18656495-19016663 ART115 Aortic Valve Disease 1 PRODH GRCh37/hg19 22q11.21(chr22:18844632-19008108) copy number loss Uncertain significance 590955 22:18656495-19016663 ART115 Aortic Valve Disease 1 USP18 GRCh37/hg19 22q11.21(chr22:18844632-19008108) copy number loss Uncertain significance 590955 22:18656495-19016663 ART115 Aortic Valve Disease 1 FBN3 GRCh37/hg19 19p13.2(chr19:8213468-8227432) copy number gain Uncertain significance 590954 19:8206748-8235774 ART115 Aortic Valve Disease 1 ZNF626 GRCh37/hg19 19p12(chr19:20834979-20987550) copy number gain Uncertain significance 590953 19:20826692-21001965 ART115 Aortic Valve Disease 1 ABCC6 GRCh37/hg19 16p13.11-12.3(chr16:16633361-16688008) copy number gain Uncertain significance 590952 16:16308351-16878729 ART115 Aortic Valve Disease 1 NOMO3 GRCh37/hg19 16p13.11-12.3(chr16:16633361-16688008) copy number gain Uncertain significance 590952 16:16308351-16878729 ART115 Aortic Valve Disease 1 KLF12 GRCh37/hg19 13q22.1(chr13:74152544-74283131) copy number gain Uncertain significance 590951 13:74133837-74298889 ART115 Aortic Valve Disease 1 DPY19L1 GRCh37/hg19 7p14.3-14.2(chr7:34920075-35212065) copy number gain Uncertain significance 590950 7:34899235-35269625 ART115 Aortic Valve Disease 1 NPSR1 GRCh37/hg19 7p14.3-14.2(chr7:34920075-35212065) copy number gain Uncertain significance 590950 7:34899235-35269625 ART115 Aortic Valve Disease 1 TBX20 GRCh37/hg19 7p14.3-14.2(chr7:34920075-35212065) copy number gain Uncertain significance 590950 7:34899235-35269625 ART115 Aortic Valve Disease 1 TBX20 NM_001077653.2(TBX20):c.117C>G (p.Ile39Met) SNV Uncertain significance 590956 rs1562569196 7:35293115-35293115 7:35253504-35253504 ART115 Aortic Valve Disease 1 TBX20 NM_001077653.2(TBX20):c.374C>A (p.Ser125Ter) SNV Uncertain significance 590957 rs766692577 7:35289569-35289569 7:35249957-35249957 ART115 Aortic Valve Disease 1 TBX20 NM_001077653.2(TBX20):c.527A>C (p.Asp176Ala) SNV Uncertain significance 590958 rs201782046 7:35288307-35288307 7:35248695-35248695 ART115 Aortic Valve Disease 1 TBX20 NM_001077653.2(TBX20):c.533C>T (p.Pro178Leu) SNV Uncertain significance 590959 rs760169368 7:35288301-35288301 7:35248689-35248689 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.6109G>T (p.Ala2037Ser) SNV Uncertain significance 409055 rs1060502237 9:139393422-139393422 9:136498970-136498970 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.2021T>C (p.Met674Thr) SNV Uncertain significance 155826 rs587782970 9:139409148-139409148 9:136514696-136514696 ART115 Aortic Valve Disease 1 GATA5 NM_080473.5(GATA5):c.1159C>T (p.Arg387Cys) SNV Uncertain significance 180368 rs145205240 20:61039927-61039927 20:62464871-62464871 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.4985G>A (p.Arg1662Gln) SNV Uncertain significance 625987 rs774808496 9:139399158-139399158 9:136504706-136504706 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.5014C>T (p.Arg1672Cys) SNV Uncertain significance 222757 rs745901158 9:139399129-139399129 9:136504677-136504677 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.7363A>G (p.Thr2455Ala) SNV Uncertain significance 264349 rs536167222 9:139390828-139390828 9:136496376-136496376 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg) SNV Uncertain significance 264003 rs761602495 9:139391670-139391670 9:136497218-136497218 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His) SNV Uncertain significance 264469 rs371068504 9:139400110-139400110 9:136505658-136505658 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.3104C>T (p.Thr1035Ile) SNV Uncertain significance 264380 rs886039138 9:139403389-139403389 9:136508937-136508937 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.4313G>A (p.Arg1438His) SNV Uncertain significance 409054 rs61751541 9:139400035-139400035 9:136505583-136505583 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.4472C>T (p.Thr1491Met) SNV Uncertain significance 409060 rs369915496 9:139399876-139399876 9:136505424-136505424 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser) SNV Uncertain significance 409078 rs367825691 9:139413921-139413921 9:136519469-136519469 ART115 Aortic Valve Disease 1 MYH11 NM_002474.3(MYH11):c.3560C>T (p.Thr1187Met) SNV Uncertain significance 405474 rs552818350 16:15826512-15826512 16:15732655-15732655 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.3510+3G>A SNV Uncertain significance 477915 rs372739350 9:139402404-139402404 9:136507952-136507952 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.2218G>A (p.Asp740Asn) SNV Uncertain significance 477892 rs200816814 9:139407979-139407979 9:136513527-136513527 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.3908G>A (p.Arg1303His) SNV Uncertain significance 477924 rs768775024 9:139401085-139401085 9:136506633-136506633 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.4988G>A (p.Arg1663Gln) SNV Uncertain significance 477936 rs749490844 9:139399155-139399155 9:136504703-136504703 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.7498C>G (p.His2500Asp) SNV Uncertain significance 487470 rs763902589 9:139390693-139390693 9:136496241-136496241 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.7313C>T (p.Pro2438Leu) SNV Uncertain significance 520091 rs199777870 9:139390878-139390878 9:136496426-136496426 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.5215G>A (p.Val1739Met) SNV Uncertain significance 520027 rs377294245 9:139396893-139396893 9:136502441-136502441 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.4795G>A (p.Val1599Met) SNV Uncertain significance 580837 rs543770603 9:139399348-139399348 9:136504896-136504896 ART115 Aortic Valve Disease 1 SLC2A10 NM_030777.4(SLC2A10):c.929C>T (p.Ser310Phe) SNV Uncertain significance 213732 rs763521707 20:45354604-45354604 20:46725965-46725965 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) SNV Benign/Likely benign 220792 rs61751546 9:139402715-139402715 9:136508263-136508263 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.2588-4G>A SNV Benign 281108 rs3125001 9:139405261-139405261 9:136510809-136510809 ART115 Aortic Valve Disease 1 ATP6 NC_012920.1:m.8950G>A SNV Benign 590268 rs1556423574 MT:8950-8950 MT:8950-8950 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=) SNV Benign 286141 rs2229974 9:139391636-139391636 9:136497184-136497184 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.312T>C (p.Asn104=) SNV Benign 286142 rs4489420 9:139418260-139418260 9:136523808-136523808 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.1555+10A>G SNV Benign 286181 rs11145767 9:139411714-139411714 9:136517262-136517262 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.1670-9A>G SNV Benign 288086 rs3124603 9:139410177-139410177 9:136515725-136515725 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=) SNV Benign 384696 rs10521 9:139397707-139397707 9:136503255-136503255 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.852G>A (p.Pro284=) SNV Benign 384692 rs2229975 9:139413908-139413908 9:136519456-136519456 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=) SNV Benign 384703 rs2229971 9:139407932-139407932 9:136513480-136513480 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.1441+7C>T SNV Benign 384693 rs9411208 9:139412197-139412197 9:136517745-136517745 ART115 Aortic Valve Disease 1 NOTCH1 NM_017617.5(NOTCH1):c.3631C>T (p.Arg1211Trp) SNV not provided 684553 9:139401769-139401769 9:136507317-136507317 ART115 Aortic Valve Disease 1 EBF3 NM_001005463.3(EBF3):c.488G>T (p.Arg163Leu) SNV Pathogenic 268155 rs1057519389 10:131755588-131755588 10:129957324-129957324 ATX038 Ataxia and Polyneuropathy, Adult-Onset ATP6 NC_012920.1:m.8993T>C SNV Pathogenic 9642 rs199476133 MT:8993-8993 MT:8993-8993 ATX038 Ataxia and Polyneuropathy, Adult-Onset GRIN2B NM_000834.4(GRIN2B):c.2084T>C (p.Ile695Thr) SNV Pathogenic/Likely pathogenic 234790 rs876661219 12:13724825-13724825 12:13571891-13571891 ATX038 Ataxia and Polyneuropathy, Adult-Onset EBF3 NM_001005463.3(EBF3):c.488G>A (p.Arg163Gln) SNV Pathogenic/Likely pathogenic 268156 rs1057519389 10:131755588-131755588 10:129957324-129957324 ATX038 Ataxia and Polyneuropathy, Adult-Onset GRIN2B NM_000834.4(GRIN2B):c.2116A>G (p.Met706Val) SNV Likely pathogenic 374226 rs1057518988 12:13724793-13724793 12:13571859-13571859 ATX038 Ataxia and Polyneuropathy, Adult-Onset ND4 NC_012920.1:m.11896C>G SNV Uncertain significance 370054 rs1057516065 MT:11896-11896 MT:11896-11896 ATX038 Ataxia and Polyneuropathy, Adult-Onset CYTB NC_012920.1:m.15127C>T SNV Uncertain significance 370064 rs1057516074 MT:15127-15127 MT:15127-15127 ATX038 Ataxia and Polyneuropathy, Adult-Onset DNMT1 NM_001130823.3(DNMT1):c.391C>T (p.Pro131Ser) SNV Uncertain significance 373918 rs1057518769 19:10291080-10291080 19:10180404-10180404 ATX038 Ataxia and Polyneuropathy, Adult-Onset TWNK NM_021830.5(TWNK):c.-105T>C SNV Uncertain significance 298493 rs886046629 10:102747863-102747863 10:100988106-100988106 ATX010 Ataxia Neuropathy Spectrum TWNK NM_021830.5(TWNK):c.274G>A (p.Gly92Ser) SNV Uncertain significance 298496 rs886046630 10:102748241-102748241 10:100988484-100988484 ATX010 Ataxia Neuropathy Spectrum TWNK NM_021830.5(TWNK):c.*803A>G SNV Uncertain significance 298521 rs886046640 10:102754070-102754070 10:100994313-100994313 ATX010 Ataxia Neuropathy Spectrum TWNK NM_021830.5(TWNK):c.*472_*473GA[2] short repeat Likely benign 298512 rs370783985 10:102753738-102753739 10:100993981-100993982 ATX010 Ataxia Neuropathy Spectrum TWNK NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln) SNV Likely benign 279716 rs369223258 10:102753262-102753262 10:100993505-100993505 ATX010 Ataxia Neuropathy Spectrum TWNK NM_021830.5(TWNK):c.-306_-305GT[1] short repeat Likely benign 298490 rs146265037 10:102747661-102747662 10:100987904-100987905 ATX010 Ataxia Neuropathy Spectrum RNR1 m.1095T>C SNV drug response 9631 rs267606618 MT:1095-1095 MT:1095-1095 ADT009 Auditory Neuropathy Spectrum Disorder FAS NM_000043.6(FAS):c.755del (p.Asn252fs) deletion Pathogenic 578533 rs1564699214 10:90773953-90773953 10:89014196-89014196 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.110T>A (p.Leu37Ter) SNV Pathogenic 580709 rs1564686301 10:90762865-90762865 10:89003108-89003108 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.651+1G>T SNV Pathogenic 650729 10:90771839-90771839 10:89012082-89012082 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.652-1G>A SNV Pathogenic 664079 10:90773099-90773099 10:89013342-89013342 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.676+1G>A SNV Pathogenic 645697 10:90773125-90773125 10:89013368-89013368 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.657_658del (p.Val220fs) deletion Pathogenic 692047 10:90773105-90773106 10:89013348-89013349 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.178del (p.His60fs) deletion Pathogenic 802617 10:90762932-90762932 10:89003175-89003175 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.415del (p.Val139fs) deletion Pathogenic 802618 10:90768726-90768726 10:89008969-89008969 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.651+2_651+3insTGAAAT insertion Pathogenic 802619 10:90771839-90771840 10:89012082-89012083 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.748C>T (p.Arg250Ter) SNV Pathogenic 802620 10:90773947-90773947 10:89014190-89014190 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NC_000010.11:g.(?_88989499)_(89247668_?)del deletion Pathogenic 831277 10:90749256-91007425 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.38del (p.Thr13fs) deletion Pathogenic 851315 10:90762793-90762793 10:89003036-89003036 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.563_566del (p.Val188fs) deletion Pathogenic 861416 10:90770564-90770567 10:89010807-89010810 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.617del (p.Asn206fs) deletion Pathogenic 847065 10:90771801-90771801 10:89012044-89012044 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.473_556del (p.Met158_Glu185del) deletion Pathogenic 16495 rs80358236 1:172634782-172634865 1:172665642-172665725 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.232del (p.Asp78fs) deletion Pathogenic 16497 rs606231361 10:90767489-90767489 10:89007732-89007732 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.334+2dup duplication Pathogenic 16498 rs606231362 10:90767595-90767596 10:89007838-89007839 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.721A>C (p.Thr241Pro) SNV Pathogenic 16499 rs121913076 10:90773920-90773920 10:89014163-89014163 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.569-2A>C SNV Pathogenic 16500 rs606231363 10:90771754-90771754 10:89011997-89011997 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.817C>T (p.Gln273Ter) SNV Pathogenic 16501 rs121913077 10:90774016-90774016 10:89014259-89014259 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.361C>T (p.Arg121Trp) SNV Pathogenic 16502 rs121913078 10:90768672-90768672 10:89008915-89008915 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.779A>T (p.Asp260Val) SNV Pathogenic 16504 rs28929498 10:90773978-90773978 10:89014221-89014221 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.809C>T (p.Thr270Ile) SNV Pathogenic 16506 rs121913081 10:90774008-90774008 10:89014251-89014251 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.651+2T>A SNV Pathogenic 16507 rs267607122 10:90771840-90771840 10:89012083-89012083 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.73G>A (p.Ala25Thr) SNV Pathogenic 16508 rs606231364 10:90762828-90762828 10:89003071-89003071 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.968_987dup (p.Glu330fs) duplication Pathogenic 16509 rs606231365 10:90774166-90774167 10:89014409-89014410 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.740G>C (p.Gly247Ala) SNV Pathogenic 16513 rs121913085 10:90773939-90773939 10:89014182-89014182 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.651+2T>C SNV Pathogenic 16514 rs267607122 10:90771840-90771840 10:89012083-89012083 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.692_693insT (p.Lys231fs) insertion Pathogenic 16515 rs606231366 10:90773891-90773892 10:89014134-89014135 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.778G>T (p.Asp260Tyr) SNV Pathogenic 16516 rs121913086 10:90773977-90773977 10:89014220-89014220 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.263del (p.Phe88fs) deletion Pathogenic 156103 rs587776450 1:172628600-172628600 1:172659460-172659460 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.651+1G>A SNV Pathogenic/Likely pathogenic 573761 rs1564696849 10:90771839-90771839 10:89012082-89012082 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.197-2A>G SNV Likely pathogenic 598753 rs1564691414 10:90767455-90767455 10:89007698-89007698 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.749G>C (p.Arg250Pro) SNV Likely pathogenic 16505 rs121913080 10:90773948-90773948 10:89014191-89014191 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.580G>A (p.Glu194Lys) SNV Conflicting interpretations of pathogenicity 134374 rs56006128 10:90771767-90771767 10:89012010-89012010 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.451+7A>G SNV Conflicting interpretations of pathogenicity 293738 rs201525996 1:172633537-172633537 1:172664397-172664397 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.364C>A (p.His122Asn) SNV Conflicting interpretations of pathogenicity 293736 rs140406512 1:172629250-172629250 1:172660110-172660110 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.176C>T (p.Pro59Leu) SNV Conflicting interpretations of pathogenicity 293732 rs375737004 1:172628517-172628517 1:172659377-172659377 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.280T>G (p.Leu94Val) SNV Conflicting interpretations of pathogenicity 293735 rs56302117 1:172628621-172628621 1:172659481-172659481 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.278C>T (p.Ala93Val) SNV Conflicting interpretations of pathogenicity 293734 rs758796005 1:172628619-172628619 1:172659479-172659479 ATM006 Autoimmune Lymphoproliferative Syndrome CASP10 NM_032977.3(CASP10):c.1321G>A (p.Ala441Thr) SNV Conflicting interpretations of pathogenicity 643723 2:202074191-202074191 2:201209468-201209468 ATM006 Autoimmune Lymphoproliferative Syndrome CASP10 NM_032977.3(CASP10):c.1202_1208del (p.Cys401fs) deletion Conflicting interpretations of pathogenicity 535760 rs747900630 2:202074072-202074078 2:201209349-201209355 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.578A>G (p.Lys193Arg) SNV Conflicting interpretations of pathogenicity 522316 rs150489856 10:90771765-90771765 10:89012008-89012008 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.536T>G (p.Leu179Arg) SNV Conflicting interpretations of pathogenicity 523313 rs1554851718 10:90770540-90770540 10:89010783-89010783 ATM006 Autoimmune Lymphoproliferative Syndrome CASP10 NM_032977.4(CASP10):c.-8+5G>A SNV Conflicting interpretations of pathogenicity 801851 2:202048036-202048036 2:201183313-201183313 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.867A>C (p.Glu289Asp) SNV Conflicting interpretations of pathogenicity 301531 rs377337130 10:90774066-90774066 10:89014309-89014309 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.*88T>C SNV Uncertain significance 301533 rs886047461 10:90774295-90774295 10:89014538-89014538 ATM006 Autoimmune Lymphoproliferative Syndrome ACTA2 NM_000043.6(FAS):c.-10C>A SNV Uncertain significance 301521 rs200181814 10:90750624-90750624 10:88990867-88990867 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.-10C>A SNV Uncertain significance 301521 rs200181814 10:90750624-90750624 10:88990867-88990867 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.444-5del deletion Uncertain significance 301529 rs751798922 10:90770283-90770283 10:89010526-89010526 ATM006 Autoimmune Lymphoproliferative Syndrome CASP10 NM_032977.3(CASP10):c.*2295T>A SNV Uncertain significance 333474 rs886055420 2:202084759-202084759 2:201220036-201220036 ATM006 Autoimmune Lymphoproliferative Syndrome CASP10 NM_032974.5(CASP10):c.1416-8265_1416-8264del deletion Uncertain significance 333485 rs886055426 2:202085389-202085390 2:201220666-201220667 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.*601_*602GT[19] short repeat Uncertain significance 293749 rs10640513 1:172635756-172635757 1:172666616-172666617 ATM006 Autoimmune Lymphoproliferative Syndrome CASP10 NM_032974.5(CASP10):c.1416-8598del deletion Uncertain significance 333476 rs41351949 2:202085052-202085052 2:201220329-201220329 ATM006 Autoimmune Lymphoproliferative Syndrome CASP10 NM_032977.3(CASP10):c.729A>G (p.Arg243=) SNV Uncertain significance 333430 rs374515060 2:202070612-202070612 2:201205889-201205889 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.*520T>C SNV Uncertain significance 301536 rs886047462 10:90774727-90774727 10:89014970-89014970 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.*1294A>T SNV Uncertain significance 301545 rs9658778 10:90775501-90775501 10:89015744-89015744 ATM006 Autoimmune Lymphoproliferative Syndrome ACTA2 NM_001141945.2(ACTA2):c.-24+399C>T SNV Uncertain significance 301516 rs886047456 10:90750297-90750297 10:88990540-88990540 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_001141945.2(ACTA2):c.-24+399C>T SNV Uncertain significance 301516 rs886047456 10:90750297-90750297 10:88990540-88990540 ATM006 Autoimmune Lymphoproliferative Syndrome ACTA2 NM_001141945.2(ACTA2):c.-24+236C>T SNV Uncertain significance 301518 rs886047457 10:90750460-90750460 10:88990703-88990703 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_001141945.2(ACTA2):c.-24+236C>T SNV Uncertain significance 301518 rs886047457 10:90750460-90750460 10:88990703-88990703 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.432C>T (p.Asp144=) SNV Uncertain significance 301528 rs574338716 10:90768743-90768743 10:89008986-89008986 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.31-9A>G SNV Uncertain significance 301522 rs886047458 10:90762777-90762777 10:89003020-89003020 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.176G>T (p.Cys59Phe) SNV Uncertain significance 301526 rs886047459 10:90762931-90762931 10:89003174-89003174 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.*566C>G SNV Uncertain significance 301538 rs886047463 10:90774773-90774773 10:89015016-89015016 ATM006 Autoimmune Lymphoproliferative Syndrome CASP10 NM_032977.4(CASP10):c.325C>T (p.Arg109Ter) SNV Uncertain significance 801852 2:202050825-202050825 2:201186102-201186102 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.412C>T (p.Pro138Ser) SNV Uncertain significance 875184 1:172633491-172633491 1:172664351-172664351 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.*608T>A SNV Uncertain significance 876150 1:172635764-172635764 1:172666624-172666624 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.452-12G>A SNV Uncertain significance 875185 1:172634750-172634750 1:172665610-172665610 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_001141945.2(ACTA2):c.-24+350G>A SNV Uncertain significance 877879 10:90750346-90750346 10:88990589-88990589 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.641_642delinsTC (p.Thr214Ile) indel Uncertain significance 844948 10:90771828-90771829 10:89012071-89012072 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.666A>G (p.Ile222Met) SNV Uncertain significance 855154 10:90773114-90773114 10:89013357-89013357 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.704_706del (p.Thr235del) deletion Uncertain significance 848671 10:90773902-90773904 10:89014145-89014147 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.758G>T (p.Gly253Val) SNV Uncertain significance 863735 10:90773957-90773957 10:89014200-89014200 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.776T>C (p.Ile259Thr) SNV Uncertain significance 860668 10:90773975-90773975 10:89014218-89014218 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.956C>T (p.Thr319Ile) SNV Uncertain significance 838342 10:90774155-90774155 10:89014398-89014398 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.161A>G (p.His54Arg) SNV Uncertain significance 857680 10:90762916-90762916 10:89003159-89003159 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.323A>G (p.Asp108Gly) SNV Uncertain significance 864610 10:90767583-90767583 10:89007826-89007826 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.488C>T (p.Thr163Ile) SNV Uncertain significance 856011 10:90770340-90770340 10:89010583-89010583 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.506G>T (p.Gly169Val) SNV Uncertain significance 835573 10:90770510-90770510 10:89010753-89010753 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.530T>G (p.Leu177Arg) SNV Uncertain significance 836453 10:90770534-90770534 10:89010777-89010777 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.49A>C (p.Ser17Arg) SNV Uncertain significance 850665 1:172628390-172628390 1:172659250-172659250 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.95G>C (p.Cys32Ser) SNV Uncertain significance 857274 1:172628436-172628436 1:172659296-172659296 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.137C>T (p.Pro46Leu) SNV Uncertain significance 851854 1:172628478-172628478 1:172659338-172659338 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.147_152GCCACC[1] (p.Pro52_Pro53del) short repeat Uncertain significance 837308 1:172628483-172628488 1:172659343-172659348 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.659A>G (p.Gln220Arg) SNV Uncertain significance 837364 1:172634969-172634969 1:172665829-172665829 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.413C>T (p.Thr138Ile) SNV Uncertain significance 827980 10:90768724-90768724 10:89008967-89008967 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NC_000001.11:g.(?_172658358)_(172666036_?)dup duplication Uncertain significance 830400 1:172627498-172635176 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NC_000001.11:g.(?_172658358)_(172909884_?)dup duplication Uncertain significance 831762 1:172627498-172879024 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.394+3G>A SNV Uncertain significance 574003 rs376383896 1:172629283-172629283 1:172660143-172660143 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.834A>T (p.Leu278Phe) SNV Uncertain significance 801576 1:172635144-172635144 1:172666004-172666004 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.109C>G (p.Pro37Ala) SNV Uncertain significance 532227 rs145731782 1:172628450-172628450 1:172659310-172659310 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.749A>G (p.Asn250Ser) SNV Uncertain significance 463410 rs376317481 1:172635059-172635059 1:172665919-172665919 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.147_152GCCACC[3] (p.Pro52_Pro53dup) short repeat Uncertain significance 532228 rs749237778 1:172628482-172628483 1:172659342-172659343 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.144_152del (p.Pro51_Pro53del) deletion Uncertain significance 532231 rs777390517 1:172628480-172628488 1:172659340-172659348 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.658G>A (p.Val220Met) SNV Uncertain significance 532229 rs755437276 10:90773106-90773106 10:89013349-89013349 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.667A>C (p.Asn223His) SNV Uncertain significance 570775 rs143318339 10:90773115-90773115 10:89013358-89013358 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.566_568delinsACAAGAATT (p.Trp189_Val190delinsTyrLysAsnLeu) indel Uncertain significance 581872 rs1564695523 10:90770570-90770572 10:89010813-89010815 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.961G>A (p.Asp321Asn) SNV Uncertain significance 578102 rs137898188 10:90774160-90774160 10:89014403-89014403 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.287A>G (p.His96Arg) SNV Uncertain significance 653447 10:90767547-90767547 10:89007790-89007790 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.478A>G (p.Thr160Ala) SNV Uncertain significance 654785 10:90770330-90770330 10:89010573-89010573 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.914C>T (p.Thr305Ile) SNV Uncertain significance 653881 10:90774113-90774113 10:89014356-89014356 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.943C>T (p.Leu315Phe) SNV Uncertain significance 659424 10:90774142-90774142 10:89014385-89014385 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.506-6C>G SNV Uncertain significance 644034 10:90770504-90770504 10:89010747-89010747 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.319C>A (p.Leu107Ile) SNV Uncertain significance 660467 1:172628660-172628660 1:172659520-172659520 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.503T>A (p.Ile168Asn) SNV Uncertain significance 650472 1:172634813-172634813 1:172665673-172665673 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.743T>C (p.Val248Ala) SNV Uncertain significance 657858 1:172635053-172635053 1:172665913-172665913 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.31-8T>G SNV Uncertain significance 661911 10:90762778-90762778 10:89003021-89003021 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.749A>T (p.Asn250Ile) SNV Uncertain significance 293739 rs376317481 1:172635059-172635059 1:172665919-172665919 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_001302746.1(FASLG):c.-136G>A SNV Uncertain significance 293725 rs55804267 1:172628206-172628206 1:172659066-172659066 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.42G>C (p.Trp14Cys) SNV Uncertain significance 293727 rs886045569 1:172628383-172628383 1:172659243-172659243 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.*119G>A SNV Uncertain significance 293742 rs753021852 1:172635275-172635275 1:172666135-172666135 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.*600G>T SNV Uncertain significance 293750 rs886045574 1:172635756-172635756 1:172666616-172666616 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.*601_*602GT[18] short repeat Uncertain significance 293748 rs10640513 1:172635756-172635757 1:172666616-172666617 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.*612T>A SNV Uncertain significance 293754 rs868507856 1:172635768-172635768 1:172666628-172666628 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.*120G>A SNV Uncertain significance 293743 rs886045571 1:172635276-172635276 1:172666136-172666136 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.*306A>C SNV Uncertain significance 293745 rs556639319 1:172635462-172635462 1:172666322-172666322 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.*601_*602GT[14] short repeat Uncertain significance 293751 rs10640513 1:172635757-172635760 1:172666617-172666620 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.*54A>T SNV Uncertain significance 293741 rs550027918 1:172635210-172635210 1:172666070-172666070 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.*203C>T SNV Uncertain significance 293744 rs886045572 1:172635359-172635359 1:172666219-172666219 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.432C>A (p.Asp144Glu) SNV Uncertain significance 134373 rs574338716 10:90768743-90768743 10:89008986-89008986 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.171_173GCC[2] (p.Pro61_Pro62del) short repeat Uncertain significance 293730 rs772297337 1:172628510-172628515 1:172659370-172659375 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.652-12T>A SNV Uncertain significance 879872 10:90773088-90773088 10:89013331-89013331 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.676+12A>C SNV Uncertain significance 877927 10:90773136-90773136 10:89013379-89013379 ATM006 Autoimmune Lymphoproliferative Syndrome CASP10 NM_001230.5(CASP10):c.440T>C (p.Met147Thr) SNV Uncertain significance 7768 rs121909776 2:202052521-202052521 2:201187798-201187798 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.*119C>T SNV Uncertain significance 877930 10:90774326-90774326 10:89014569-89014569 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.*386A>G SNV Uncertain significance 878092 10:90774593-90774593 10:89014836-89014836 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.*1313G>A SNV Uncertain significance 879918 10:90775520-90775520 10:89015763-89015763 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.30+6C>T SNV Uncertain significance 878039 10:90750669-90750669 10:88990912-88990912 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.466A>G (p.Arg156Gly) SNV Uncertain significance 21212 rs80358238 1:172634776-172634776 1:172665636-172665636 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.695A>G (p.Tyr232Cys) SNV Uncertain significance 16503 rs121913079 10:90773894-90773894 10:89014137-89014137 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.84T>C (p.Thr28=) SNV Uncertain significance 879503 10:90762839-90762839 10:89003082-89003082 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.251C>T (p.Pro84Leu) SNV Uncertain significance 879504 10:90767511-90767511 10:89007754-89007754 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.694T>C (p.Tyr232His) SNV Uncertain significance 877928 10:90773893-90773893 10:89014136-89014136 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.*586G>A SNV Uncertain significance 878094 10:90774793-90774793 10:89015036-89015036 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.*839A>G SNV Uncertain significance 879549 10:90775046-90775046 10:89015289-89015289 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.*874T>A SNV Uncertain significance 879550 10:90775081-90775081 10:89015324-89015324 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.*1153A>T SNV Uncertain significance 879551 10:90775360-90775360 10:89015603-89015603 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.*70G>C SNV Likely benign 877929 10:90774277-90774277 10:89014520-89014520 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.*436C>T SNV Likely benign 878093 10:90774643-90774643 10:89014886-89014886 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.-16T>C SNV Likely benign 293726 rs781373207 1:172628326-172628326 1:172659186-172659186 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.*32T>C SNV Likely benign 293740 rs775421228 1:172635188-172635188 1:172666048-172666048 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.945C>T (p.Leu315=) SNV Likely benign 718503 10:90774144-90774144 10:89014387-89014387 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.153G>A (p.Pro51=) SNV Likely benign 735838 1:172628494-172628494 1:172659354-172659354 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.948G>A (p.Lys316=) SNV Likely benign 746285 10:90774147-90774147 10:89014390-89014390 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.144A>G (p.Pro48=) SNV Likely benign 759475 1:172628485-172628485 1:172659345-172659345 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.958A>G (p.Ser320Gly) SNV Likely benign 532230 rs146209060 10:90774157-90774157 10:89014400-89014400 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.349-45G>T SNV Likely benign 548472 rs778330321 1:172629190-172629190 1:172660050-172660050 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.102A>G (p.Gly34=) SNV Likely benign 532232 rs1554849878 10:90762857-90762857 10:89003100-89003100 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.426G>C (p.Glu142Asp) SNV Likely benign 532234 rs138441486 1:172633505-172633505 1:172664365-172664365 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.828C>T (p.Phe276=) SNV Likely benign 532233 rs144105303 1:172635138-172635138 1:172665998-172665998 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NC_000001.11:g.172658929A>G SNV Likely benign 801573 1:172628069-172628069 1:172658929-172658929 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_001302746.1(FASLG):c.-187_-186GA[4] short repeat Likely benign 801574 1:172628154-172628157 1:172659014-172659017 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.209C>G (p.Pro70Arg) SNV Likely benign 801575 1:172628550-172628550 1:172659410-172659410 ATM006 Autoimmune Lymphoproliferative Syndrome ACTA2 NM_001141945.2(ACTA2):c.-24+414_-24+415del deletion Likely benign 301514 rs553556054 10:90750281-90750282 10:88990524-88990525 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_001141945.2(ACTA2):c.-24+414_-24+415del deletion Likely benign 301514 rs553556054 10:90750281-90750282 10:88990524-88990525 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.*978C>T SNV Likely benign 301543 rs181225729 10:90775185-90775185 10:89015428-89015428 ATM006 Autoimmune Lymphoproliferative Syndrome ACTA2 NM_001141945.2(ACTA2):c.-24+357C>T SNV Likely benign 301517 rs9658677 10:90750339-90750339 10:88990582-88990582 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_001141945.2(ACTA2):c.-24+357C>T SNV Likely benign 301517 rs9658677 10:90750339-90750339 10:88990582-88990582 ATM006 Autoimmune Lymphoproliferative Syndrome CASP10 NM_032974.5(CASP10):c.1415+8920del deletion Likely benign 333453 rs41506545 2:202083198-202083198 2:201218475-201218475 ATM006 Autoimmune Lymphoproliferative Syndrome CASP10 NM_001230.5(CASP10):c.794-12del deletion Likely benign 333432 rs367989998 2:202073781-202073781 2:201209058-201209058 ATM006 Autoimmune Lymphoproliferative Syndrome CASP10 NM_032974.5(CASP10):c.1416-9015del deletion Likely benign 333472 rs528903184 2:202084640-202084640 2:201219917-201219917 ATM006 Autoimmune Lymphoproliferative Syndrome ACTA2 NM_001141945.2(ACTA2):c.-24+409G>A SNV Likely benign 301515 rs56220100 10:90750287-90750287 10:88990530-88990530 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_001141945.2(ACTA2):c.-24+409G>A SNV Likely benign 301515 rs56220100 10:90750287-90750287 10:88990530-88990530 ATM006 Autoimmune Lymphoproliferative Syndrome ACTA2 NM_001141945.2(ACTA2):c.-24+157C>T SNV Benign/Likely benign 301519 rs2274355 10:90750539-90750539 10:88990782-88990782 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_001141945.2(ACTA2):c.-24+157C>T SNV Benign/Likely benign 301519 rs2274355 10:90750539-90750539 10:88990782-88990782 ATM006 Autoimmune Lymphoproliferative Syndrome ACTA2 NM_000043.6(FAS):c.-34A>G SNV Benign/Likely benign 301520 rs5030766 10:90750600-90750600 10:88990843-88990843 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.-34A>G SNV Benign/Likely benign 301520 rs5030766 10:90750600-90750600 10:88990843-88990843 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.103T>C (p.Leu35=) SNV Benign/Likely benign 301524 rs9333296 10:90762858-90762858 10:89003101-89003101 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.550A>G (p.Ile184Val) SNV Benign/Likely benign 301530 rs28362322 10:90770554-90770554 10:89010797-89010797 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.451+8T>A SNV Benign/Likely benign 760025 1:172633538-172633538 1:172664398-172664398 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.108G>A (p.Val36=) SNV Benign/Likely benign 293728 rs140595317 1:172628449-172628449 1:172659309-172659309 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.174G>A (p.Pro58=) SNV Benign/Likely benign 293731 rs372411796 1:172628515-172628515 1:172659375-172659375 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.369G>A (p.Gln123=) SNV Benign/Likely benign 210992 rs28362318 10:90768680-90768680 10:89008923-89008923 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.46G>A (p.Ala16Thr) SNV Benign/Likely benign 134371 rs3218619 10:90762801-90762801 10:89003044-89003044 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.365C>T (p.Thr122Ile) SNV Benign 134372 rs3218614 10:90768676-90768676 10:89008919-89008919 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.30+12C>T SNV Benign 878040 10:90750675-90750675 10:88990918-88990918 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.*1203G>A SNV Benign 879917 10:90775410-90775410 10:89015653-89015653 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.642T>C (p.Thr214=) SNV Benign 254734 rs2234978 10:90771829-90771829 10:89012072-89012072 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.183G>A (p.Lys61=) SNV Benign 155871 rs3218613 10:90762938-90762938 10:89003181-89003181 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.395-15C>G SNV Benign 293737 rs370579312 1:172633459-172633459 1:172664319-172664319 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.*601_*602GT[17] short repeat Benign 293747 rs10640513 1:172635756-172635757 1:172666616-172666617 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.*725A>G SNV Benign 293755 rs542205727 1:172635881-172635881 1:172666741-172666741 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.*817A>G SNV Benign 293757 rs45442301 1:172635973-172635973 1:172666833-172666833 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.*406G>T SNV Benign 293746 rs138658215 1:172635562-172635562 1:172666422-172666422 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.*601_*602GT[13] short repeat Benign 293752 rs10640513 1:172635757-172635762 1:172666617-172666622 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.*606T>A SNV Benign 293753 rs74124375 1:172635762-172635762 1:172666622-172666622 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.147G>A (p.Pro49=) SNV Benign 293729 rs61756244 1:172628488-172628488 1:172659348-172659348 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.177G>A (p.Pro59=) SNV Benign 293733 rs559795993 1:172628518-172628518 1:172659378-172659378 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.505+16C>T SNV Benign 522237 rs3218620 10:90770373-90770373 10:89010616-89010616 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.360G>C (p.Gln120His) SNV Benign 874259 1:172629246-172629246 1:172660106-172660106 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.78A>G (p.Gln26=) SNV Benign 878041 10:90762833-90762833 10:89003076-89003076 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.*3G>T SNV Benign 875186 1:172635159-172635159 1:172666019-172666019 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.*84G>A SNV Benign 301532 rs754986111 10:90774291-90774291 10:89014534-89014534 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.*142A>G SNV Benign 301534 rs9658774 10:90774349-90774349 10:89014592-89014592 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.*638T>C SNV Benign 301540 rs192032778 10:90774845-90774845 10:89015088-89015088 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.*853C>T SNV Benign 301542 rs770098016 10:90775060-90775060 10:89015303-89015303 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.*565A>T SNV Benign 301537 rs1051070 10:90774772-90774772 10:89015015-89015015 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.*1333G>T SNV Benign 301546 rs9658779 10:90775540-90775540 10:89015783-89015783 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.*1084C>T SNV Benign 301544 rs1468063 10:90775291-90775291 10:89015534-89015534 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.222A>G (p.Thr74=) SNV Benign 301527 rs2229521 10:90767482-90767482 10:89007725-89007725 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.33T>A (p.Val11=) SNV Benign 301523 rs113022949 10:90762788-90762788 10:89003031-89003031 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.*582T>G SNV Benign 301539 rs542335688 10:90774789-90774789 10:89015032-89015032 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.141G>A (p.Gln47=) SNV Benign 301525 rs3218621 10:90762896-90762896 10:89003139-89003139 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.*765T>C SNV Benign 301541 rs9658776 10:90774972-90774972 10:89015215-89015215 ATM006 Autoimmune Lymphoproliferative Syndrome FAS NM_000043.6(FAS):c.*174A>G SNV Benign 301535 rs776971935 10:90774381-90774381 10:89014624-89014624 ATM006 Autoimmune Lymphoproliferative Syndrome FASLG NM_000639.3(FASLG):c.*754G>A SNV Benign 293756 rs55779656 1:172635910-172635910 1:172666770-172666770 ATM006 Autoimmune Lymphoproliferative Syndrome CASP10 NM_032974.5(CASP10):c.1416-9210del deletion Benign 333471 rs111572089 2:202084429-202084429 2:201219706-201219706 ATM006 Autoimmune Lymphoproliferative Syndrome COX1 m.6742T>C SNV Pathogenic 9664 rs199476126 MT:6742-6742 MT:6742-6742 ATS406 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 COX1 m.6721T>C SNV Pathogenic 9665 rs199476127 MT:6721-6721 MT:6721-6721 ATS406 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 SLC25A38 NM_017875.4(SLC25A38):c.570C>A (p.Pro190=) SNV Uncertain significance 345150 rs886058471 3:39433457-39433457 3:39391966-39391966 ATS406 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 SLC25A38 NM_017875.4(SLC25A38):c.652A>T (p.Ile218Phe) SNV Uncertain significance 345151 rs764125735 3:39435927-39435927 3:39394436-39394436 ATS406 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 SLC25A38 NM_017875.4(SLC25A38):c.*370C>T SNV Uncertain significance 345154 rs886058472 3:39438381-39438381 3:39396890-39396890 ATS406 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 SLC25A38 NM_017875.4(SLC25A38):c.-161G>A SNV Uncertain significance 345141 rs528990278 3:39425055-39425055 3:39383564-39383564 ATS406 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 SLC25A38 NM_017875.4(SLC25A38):c.*431G>A SNV Uncertain significance 345156 rs73058292 3:39438442-39438442 3:39396951-39396951 ATS406 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 SLC25A38 NM_017875.4(SLC25A38):c.288A>G (p.Arg96=) SNV Uncertain significance 345146 rs765578993 3:39432943-39432943 3:39391452-39391452 ATS406 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 SLC25A38 NM_017875.4(SLC25A38):c.*404G>A SNV Uncertain significance 345155 rs886058473 3:39438415-39438415 3:39396924-39396924 ATS406 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 SLC25A38 NM_017875.4(SLC25A38):c.*809C>T SNV Likely benign 369419 rs71325527 3:39438820-39438820 3:39397329-39397329 ATS406 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 SLC25A38 NM_017875.4(SLC25A38):c.-209A>G SNV Benign/Likely benign 345140 rs143903497 3:39425007-39425007 3:39383516-39383516 ATS406 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 SLC25A38 NM_017875.4(SLC25A38):c.*588T>A SNV Benign/Likely benign 345159 rs6890 3:39438599-39438599 3:39397108-39397108 ATS406 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 SLC25A38 NM_017875.4(SLC25A38):c.165G>A (p.Leu55=) SNV Benign 281680 rs2270770 3:39431081-39431081 3:39389590-39389590 ATS406 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 SLC25A38 NM_017875.4(SLC25A38):c.*310A>T SNV Benign 345153 rs12991 3:39438321-39438321 3:39396830-39396830 ATS406 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 SLC25A38 NM_017875.4(SLC25A38):c.*642del deletion Benign 345160 rs34288981 3:39438645-39438645 3:39397154-39397154 ATS406 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 SLC25A38 GRCh37/hg19 3p22.1(chr3:39423783-39438788)x3 copy number gain not provided 441053 3:39423783-39438788 ATS406 Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 GJB2 NM_004004.6(GJB2):c.109G>A (p.Val37Ile) SNV Pathogenic 17023 rs72474224 13:20763612-20763612 13:20189473-20189473 BRT001 Bart-Pumphrey Syndrome GJB2 NM_004004.6(GJB2):c.-23+1G>A SNV Pathogenic 17029 rs80338940 13:20766921-20766921 13:20192782-20192782 BRT001 Bart-Pumphrey Syndrome GJB2 NM_004004.6(GJB2):c.162C>A (p.Asn54Lys) SNV Pathogenic 17030 rs104894412 13:20763559-20763559 13:20189420-20189420 BRT001 Bart-Pumphrey Syndrome GJB2 NM_004004.6(GJB2):c.175G>A (p.Gly59Ser) SNV Pathogenic 17034 rs104894410 13:20763546-20763546 13:20189407-20189407 BRT001 Bart-Pumphrey Syndrome GJB2 NM_004004.6(GJB2):c.1A>G (p.Met1Val) SNV Pathogenic 44729 rs111033293 13:20763720-20763720 13:20189581-20189581 BRT001 Bart-Pumphrey Syndrome GJB2 NM_004004.6(GJB2):c.101T>C (p.Met34Thr) SNV Pathogenic 17000 rs35887622 13:20763620-20763620 13:20189481-20189481 BRT001 Bart-Pumphrey Syndrome GJB2 NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) SNV Pathogenic 17001 rs80338944 13:20763490-20763490 13:20189351-20189351 BRT001 Bart-Pumphrey Syndrome GJB2 NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) SNV Pathogenic 17002 rs104894396 13:20763650-20763650 13:20189511-20189511 BRT001 Bart-Pumphrey Syndrome GJB2 NM_004004.6(GJB2):c.35del (p.Gly12fs) deletion Pathogenic 17004 rs80338939 13:20763686-20763686 13:20189547-20189547 BRT001 Bart-Pumphrey Syndrome GJB2 NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) SNV Pathogenic 17005 rs104894398 13:20763582-20763582 13:20189443-20189443 BRT001 Bart-Pumphrey Syndrome GJB2 NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) SNV Pathogenic 17009 rs80338948 13:20763294-20763294 13:20189155-20189155 BRT001 Bart-Pumphrey Syndrome GJB2 NM_004004.6(GJB2):c.167del (p.Leu56fs) deletion Pathogenic 17010 rs80338942 13:20763554-20763554 13:20189415-20189415 BRT001 Bart-Pumphrey Syndrome GJB2 NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) SNV Pathogenic 44763 rs111033294 13:20763104-20763104 13:20188965-20188965 BRT001 Bart-Pumphrey Syndrome GJB2 NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) SNV Pathogenic 265481 rs774518779 13:20763215-20763215 13:20189076-20189076 BRT001 Bart-Pumphrey Syndrome GJB2 NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) SNV Pathogenic/Likely pathogenic 163514 rs727503066 13:20763342-20763342 13:20189203-20189203 BRT001 Bart-Pumphrey Syndrome GJB2 NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) SNV Pathogenic/Likely pathogenic 550195 rs371024165 13:20763627-20763627 13:20189488-20189488 BRT001 Bart-Pumphrey Syndrome GJB2 NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) SNV Pathogenic/Likely pathogenic 188830 rs104894413 13:20763590-20763590 13:20189451-20189451 BRT001 Bart-Pumphrey Syndrome GJB2 NM_004004.6(GJB2):c.283G>A (p.Val95Met) SNV Pathogenic/Likely pathogenic 44735 rs111033299 13:20763438-20763438 13:20189299-20189299 BRT001 Bart-Pumphrey Syndrome GJB2 NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) SNV Likely pathogenic 44740 rs104894408 13:20763687-20763687 13:20189548-20189548 BRT001 Bart-Pumphrey Syndrome GJB2 NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) SNV Conflicting interpretations of pathogenicity 44749 rs76434661 13:20763305-20763305 13:20189166-20189166 BRT001 Bart-Pumphrey Syndrome GJB2 NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) SNV Conflicting interpretations of pathogenicity 17016 rs80338945 13:20763452-20763452 13:20189313-20189313 BRT001 Bart-Pumphrey Syndrome GJB2 NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) SNV Conflicting interpretations of pathogenicity 17007 rs80338950 13:20763170-20763170 13:20189031-20189031 BRT001 Bart-Pumphrey Syndrome GJB2 NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) SNV Uncertain significance 44764 rs375599392 13:20763058-20763058 13:20188919-20188919 BRT001 Bart-Pumphrey Syndrome GJB2 NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) SNV Uncertain significance 44765 rs111033194 13:20763051-20763051 13:20188912-20188912 BRT001 Bart-Pumphrey Syndrome GJB2 NM_004004.6(GJB2):c.188T>C (p.Val63Ala) SNV Uncertain significance 177751 rs727504309 13:20763533-20763533 13:20189394-20189394 BRT001 Bart-Pumphrey Syndrome DNAH7 NM_018897.3(DNAH7):c.10753T>C (p.Phe3585Leu) SNV Pathogenic 375378 rs1057519439 2:196651859-196651859 2:195787135-195787135 BSL008 Basal Ganglia Disease IFIH1 NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) SNV Pathogenic/Likely pathogenic 137622 rs587777446 2:163130423-163130423 2:162273913-162273913 BSL008 Basal Ganglia Disease CACNA1A NM_000068.4(CACNA1A):c.*478_*483del deletion Conflicting interpretations of pathogenicity 598990 rs1568415991 19:13318377-13318382 19:13207563-13207568 BSL008 Basal Ganglia Disease BMPR2 NM_001204.7(BMPR2):c.545G>A (p.Gly182Asp) SNV Uncertain significance 8813 rs137852754 2:203379626-203379626 2:202514903-202514903 BSL008 Basal Ganglia Disease TNFRSF13B NM_012452.2(TNFRSF13B):c.58C>T (p.Arg20Cys) SNV Uncertain significance 577672 rs200013015 17:16875332-16875332 17:16972018-16972018 BSL008 Basal Ganglia Disease SDC3 NM_014654.4(SDC3):c.986C>T (p.Thr329Ile) SNV association 12755 rs2282440 1:31347320-31347320 1:30874473-30874473 BDY004 Body Mass Index Quantitative Trait Locus 11 SDC3 NM_014654.4(SDC3):c.622G>A (p.Val208Ile) SNV association 12756 rs2491132 1:31349647-31349647 1:30876800-30876800 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) SNV Pathogenic 14318 rs13447324 18:58039478-58039478 18:60372245-60372245 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.812G>A (p.Cys271Tyr) SNV Pathogenic 14329 rs121913562 18:58038771-58038771 18:60371538-60371538 BDY004 Body Mass Index Quantitative Trait Locus 11 NR0B2 NM_021969.3(NR0B2):c.100C>T (p.Arg34Ter) SNV Pathogenic 5426 rs74315349 1:27240332-27240332 1:26913841-26913841 BDY004 Body Mass Index Quantitative Trait Locus 11 NR0B2 NM_021969.3(NR0B2):c.583G>T (p.Ala195Ser) SNV Pathogenic 5427 rs74315350 1:27238527-27238527 1:26912036-26912036 BDY004 Body Mass Index Quantitative Trait Locus 11 AGRP NM_001138.2(AGRP):c.199G>A (p.Ala67Thr) SNV Pathogenic 7329 rs5030980 16:67516945-67516945 16:67483042-67483042 BDY004 Body Mass Index Quantitative Trait Locus 11 UCP3 NM_003356.4(UCP3):c.208C>T (p.Arg70Trp) SNV Pathogenic 7579 rs17848368 11:73717343-73717343 11:74006298-74006298 BDY004 Body Mass Index Quantitative Trait Locus 11 GLDC NM_000170.2(GLDC):c.1545G>C (p.Arg515Ser) SNV Pathogenic 11985 rs121964976 9:6589230-6589230 9:6589230-6589230 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.829_830TG[5] (p.Phe280fs) short repeat Pathogenic 36487 rs193922687 18:58038746-58038747 18:60371513-60371514 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.896C>A (p.Pro299His) SNV Pathogenic 36488 rs52804924 18:58038687-58038687 18:60371454-60371454 BDY004 Body Mass Index Quantitative Trait Locus 11 BRCA2 NM_000059.3(BRCA2):c.4936_4939del (p.Glu1646fs) deletion Pathogenic 37935 rs80359473 13:32913425-32913428 13:32339288-32339291 BDY004 Body Mass Index Quantitative Trait Locus 11 DDHD2 NM_015214.3(DDHD2):c.1978G>C (p.Asp660His) SNV Pathogenic 39679 rs375168720 8:38111160-38111160 8:38253642-38253642 BDY004 Body Mass Index Quantitative Trait Locus 11 POLG NM_001126131.2(POLG):c.1268_1269CT[1] (p.Leu424fs) short repeat Pathogenic 206608 rs796052908 15:89870560-89870561 15:89327329-89327330 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.838T>C (p.Phe280Leu) SNV Pathogenic 492863 rs756232889 18:58038745-58038745 18:60371512-60371512 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.757G>A (p.Val253Ile) SNV Pathogenic 492862 rs187152753 18:58038826-58038826 18:60371593-60371593 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.161T>C (p.Leu54Pro) SNV Pathogenic 492861 rs376439188 18:58039422-58039422 18:60372189-60372189 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.63_64del (p.Tyr21_Arg22delinsTer) deletion Pathogenic 492860 rs770293321 18:58039519-58039520 18:60372286-60372287 BDY004 Body Mass Index Quantitative Trait Locus 11 TUBGCP5 GRCh37/hg19 15q11.2(chr15:22765628-23300287) copy number loss Pathogenic 523249 15:22765628-23300287 BDY004 Body Mass Index Quantitative Trait Locus 11 CYFIP1 GRCh37/hg19 15q11.2(chr15:22765628-23300287) copy number loss Pathogenic 523249 15:22765628-23300287 BDY004 Body Mass Index Quantitative Trait Locus 11 NIPA1 GRCh37/hg19 15q11.2(chr15:22765628-23300287) copy number loss Pathogenic 523249 15:22765628-23300287 BDY004 Body Mass Index Quantitative Trait Locus 11 NIPA2 GRCh37/hg19 15q11.2(chr15:22765628-23300287) copy number loss Pathogenic 523249 15:22765628-23300287 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.496G>A (p.Val166Ile) SNV Pathogenic 562224 rs942758928 18:58039087-58039087 18:60371854-60371854 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.466C>T (p.Gln156Ter) SNV Pathogenic 562356 rs369841551 18:58039117-58039117 18:60371884-60371884 BDY004 Body Mass Index Quantitative Trait Locus 11 SCAPER NM_020843.4(SCAPER):c.2806del (p.Thr935_Leu936insTer) deletion Pathogenic 548448 rs1567499068 15:76866531-76866531 15:76574190-76574190 BDY004 Body Mass Index Quantitative Trait Locus 11 BBIP1 NM_001195307.1(BBIP1):c.38-1015C>T SNV Pathogenic 626905 10:112661299-112661299 10:110901541-110901541 BDY004 Body Mass Index Quantitative Trait Locus 11 PRMT7 NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter) SNV Pathogenic 523434 rs1251713297 16:68389688-68389688 16:68355785-68355785 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.494G>A (p.Arg165Gln) SNV Pathogenic 327713 rs747681609 18:58039089-58039089 18:60371856-60371856 BDY004 Body Mass Index Quantitative Trait Locus 11 GNAS NM_001077488.4(GNAS):c.85C>T (p.Gln29Ter) SNV Pathogenic 374113 rs1057518907 20:57466866-57466866 20:58891811-58891811 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.181G>A (p.Glu61Lys) SNV Pathogenic/Likely pathogenic 435831 rs370479598 18:58039402-58039402 18:60372169-60372169 BDY004 Body Mass Index Quantitative Trait Locus 11 SCN1A NM_001165963.4(SCN1A):c.971_973ATT[1] (p.Tyr325del) short repeat Pathogenic/Likely pathogenic 503736 rs1553548194 2:166905448-166905450 2:166048938-166048940 BDY004 Body Mass Index Quantitative Trait Locus 11 PRMT7 NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter) SNV Pathogenic/Likely pathogenic 523435 rs1014959895 16:68363008-68363008 16:68329105-68329105 BDY004 Body Mass Index Quantitative Trait Locus 11 KCNH2 NM_172056.2(KCNH2):c.1682C>T (p.Ala561Val) SNV Pathogenic/Likely pathogenic 14420 rs121912504 7:150648799-150648799 7:150951711-150951711 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.538T>C (p.Ser180Pro) SNV Likely pathogenic 36483 rs193922685 18:58039045-58039045 18:60371812-60371812 BDY004 Body Mass Index Quantitative Trait Locus 11 FTO NM_001080432.3(FTO):c.46-43098T>C SNV risk factor 217824 rs1421085 16:53800954-53800954 16:53767042-53767042 BDY004 Body Mass Index Quantitative Trait Locus 11 RSRC2 NM_023012.6(RSRC2):c.425G>A (p.Arg142Gln) SNV Likely pathogenic 242899 rs752134549 12:123001951-123001951 12:122517404-122517404 BDY004 Body Mass Index Quantitative Trait Locus 11 CARTPT NM_004291.4(CARTPT):c.183G>C (p.Leu61Phe) SNV risk factor 6993 rs121909065 5:71015730-71015730 5:71719903-71719903 BDY004 Body Mass Index Quantitative Trait Locus 11 GHRL NM_016362.5(GHRL):c.152G>A (p.Arg51Gln) SNV risk factor 5061 rs34911341 3:10331519-10331519 3:10289835-10289835 BDY004 Body Mass Index Quantitative Trait Locus 11 GHRL NM_016362.5(GHRL):c.269A>T (p.Gln90Leu) SNV risk factor 5063 rs4684677 3:10328453-10328453 3:10286769-10286769 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.947T>G (p.Ile316Ser) SNV Likely pathogenic 14331 rs121913564 18:58038636-58038636 18:60371403-60371403 BDY004 Body Mass Index Quantitative Trait Locus 11 ADRB3 NM_000025.3(ADRB3):c.190T>C (p.Trp64Arg) SNV risk factor 17741 rs4994 8:37823798-37823798 8:37966280-37966280 BDY004 Body Mass Index Quantitative Trait Locus 11 AQP7 AQP7, -953, A-G SNV risk factor 35452 BDY004 Body Mass Index Quantitative Trait Locus 11 LEPR NM_002303.5(LEPR):c.2880C>G (p.Asn960Lys) SNV Likely pathogenic 36465 rs193922650 1:66102080-66102080 1:65636397-65636397 BDY004 Body Mass Index Quantitative Trait Locus 11 ENPP1 ENPP1, IVS20AS, 1-BP DEL, T, -11 deletion risk factor 13584 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.449C>T (p.Thr150Ile) SNV Likely pathogenic 435829 rs766665118 18:58039134-58039134 18:60371901-60371901 BDY004 Body Mass Index Quantitative Trait Locus 11 POGZ NM_015100.4(POGZ):c.3638G>A (p.Trp1213Ter) SNV Likely pathogenic 631528 1:151377873-151377873 1:151405397-151405397 BDY004 Body Mass Index Quantitative Trait Locus 11 EMC1 NM_015047.3(EMC1):c.313C>T (p.Arg105Ter) SNV Likely pathogenic 631526 1:19570175-19570175 1:19243681-19243681 BDY004 Body Mass Index Quantitative Trait Locus 11 FBXO11 NM_025133.4(FBXO11):c.188C>G (p.Ser63Ter) SNV Likely pathogenic 631527 2:48066560-48066560 2:47839421-47839421 BDY004 Body Mass Index Quantitative Trait Locus 11 GRIA4 NM_000829.4(GRIA4):c.2209C>T (p.Arg737Ter) SNV Likely pathogenic 631525 11:105804610-105804610 11:105933884-105933884 BDY004 Body Mass Index Quantitative Trait Locus 11 DIXDC1 NM_001037954.4(DIXDC1):c.793C>T (p.Arg265Ter) SNV Likely pathogenic 631529 11:111853087-111853087 11:111982362-111982362 BDY004 Body Mass Index Quantitative Trait Locus 11 DNM1L NM_012062.5(DNM1L):c.28A>T (p.Lys10Ter) SNV Likely pathogenic 631530 12:32832325-32832325 12:32679391-32679391 BDY004 Body Mass Index Quantitative Trait Locus 11 MYH9 NM_002473.5(MYH9):c.4271A>G (p.Asp1424Gly) SNV Likely pathogenic 523453 rs867593888 22:36688105-36688105 22:36292059-36292059 BDY004 Body Mass Index Quantitative Trait Locus 11 CDKAL1 NM_017774.3(CDKAL1):c.371+11642G>C SNV risk factor 812171 6:20661250-20661250 6:20661019-20661019 BDY004 Body Mass Index Quantitative Trait Locus 11 POMC NM_000939.4(POMC):c.261C>A (p.Phe87Leu) SNV Conflicting interpretations of pathogenicity 710881 2:25384493-25384493 2:25161624-25161624 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.335C>T (p.Thr112Met) SNV Conflicting interpretations of pathogenicity 712327 18:58039248-58039248 18:60372015-60372015 BDY004 Body Mass Index Quantitative Trait Locus 11 POMC NM_000939.4(POMC):c.662A>G (p.Tyr221Cys) SNV Conflicting interpretations of pathogenicity 898576 2:25384092-25384092 2:25161223-25161223 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.749T>A (p.Leu250Gln) SNV Conflicting interpretations of pathogenicity 549551 rs772393451 18:58038834-58038834 18:60371601-60371601 BDY004 Body Mass Index Quantitative Trait Locus 11 PPARG NM_015869.4(PPARG):c.235G>A (p.Glu79Lys) SNV Conflicting interpretations of pathogenicity 436395 rs777334819 3:12421355-12421355 3:12379856-12379856 BDY004 Body Mass Index Quantitative Trait Locus 11 POMC NM_000939.4(POMC):c.706C>G (p.Arg236Gly) SNV Conflicting interpretations of pathogenicity 13356 rs28932472 2:25384048-25384048 2:25161179-25161179 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.2(MC4R):c.110A>T (p.Asp37Val) SNV Conflicting interpretations of pathogenicity 14319 rs13447325 18:58039473-58039473 18:60372240-60372240 BDY004 Body Mass Index Quantitative Trait Locus 11 LEPR NM_002303.5(LEPR):c.3417A>G (p.Ala1139=) SNV Conflicting interpretations of pathogenicity 36466 rs61781316 1:66102617-66102617 1:65636934-65636934 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) SNV Conflicting interpretations of pathogenicity 14336 rs13447331 18:58039203-58039203 18:60371970-60371970 BDY004 Body Mass Index Quantitative Trait Locus 11 PPARG NM_015869.5(PPARG):c.483T>C (p.Gly161=) SNV Conflicting interpretations of pathogenicity 901054 3:12434115-12434115 3:12392616-12392616 BDY004 Body Mass Index Quantitative Trait Locus 11 PPARG NM_015869.5(PPARG):c.719G>A (p.Arg240Gln) SNV Conflicting interpretations of pathogenicity 901923 3:12447480-12447480 3:12405981-12405981 BDY004 Body Mass Index Quantitative Trait Locus 11 PPARG NM_015869.5(PPARG):c.1314A>G (p.Gln438=) SNV Conflicting interpretations of pathogenicity 902829 3:12475440-12475440 3:12433941-12433941 BDY004 Body Mass Index Quantitative Trait Locus 11 PPARG NM_015869.4(PPARG):c.1484C>T (p.Pro495Leu) SNV Conflicting interpretations of pathogenicity 8136 rs121909244 3:12475610-12475610 3:12434111-12434111 BDY004 Body Mass Index Quantitative Trait Locus 11 UCP3 NM_003356.4(UCP3):c.304G>A (p.Val102Ile) SNV Conflicting interpretations of pathogenicity 7576 rs2229707 11:73717247-73717247 11:74006202-74006202 BDY004 Body Mass Index Quantitative Trait Locus 11 POMC NM_000939.4(POMC):c.18C>T (p.Cys6=) SNV Conflicting interpretations of pathogenicity 335358 rs8192605 2:25387624-25387624 2:25164755-25164755 BDY004 Body Mass Index Quantitative Trait Locus 11 POMC NM_001035256.2(POMC):c.-203A>G SNV Conflicting interpretations of pathogenicity 335362 rs139229417 2:25391499-25391499 2:25168630-25168630 BDY004 Body Mass Index Quantitative Trait Locus 11 NRXN1 NM_001330078.2(NRXN1):c.3499C>T (p.Arg1167Ter) SNV Conflicting interpretations of pathogenicity 194930 rs199546979 2:50463974-50463974 2:50236836-50236836 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) SNV Conflicting interpretations of pathogenicity 36486 rs79783591 18:58038777-58038777 18:60371544-60371544 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.606C>A (p.Phe202Leu) SNV Conflicting interpretations of pathogenicity 36484 rs138281308 18:58038977-58038977 18:60371744-60371744 BDY004 Body Mass Index Quantitative Trait Locus 11 PPARG NM_015869.4(PPARG):c.481-3C>T SNV Conflicting interpretations of pathogenicity 342923 rs370830238 3:12434110-12434110 3:12392611-12392611 BDY004 Body Mass Index Quantitative Trait Locus 11 PPARG NM_015869.4(PPARG):c.438T>C (p.Ala146=) SNV Conflicting interpretations of pathogenicity 342922 rs147975759 3:12422948-12422948 3:12381449-12381449 BDY004 Body Mass Index Quantitative Trait Locus 11 PPARG NM_015869.4(PPARG):c.507G>A (p.Leu169=) SNV Conflicting interpretations of pathogenicity 342924 rs41415646 3:12434139-12434139 3:12392640-12392640 BDY004 Body Mass Index Quantitative Trait Locus 11 PPARG NM_015869.4(PPARG):c.240C>T (p.Asp80=) SNV Conflicting interpretations of pathogenicity 342920 rs112174008 3:12421360-12421360 3:12379861-12379861 BDY004 Body Mass Index Quantitative Trait Locus 11 POMC NM_000939.4(POMC):c.158A>G (p.Asp53Gly) SNV Conflicting interpretations of pathogenicity 335357 rs28932470 2:25384596-25384596 2:25161727-25161727 BDY004 Body Mass Index Quantitative Trait Locus 11 POMC NM_000939.4(POMC):c.-20-904T>C SNV Uncertain significance 335360 rs886055854 2:25388565-25388565 2:25165696-25165696 BDY004 Body Mass Index Quantitative Trait Locus 11 PPARG NM_015869.4(PPARG):c.288C>T (p.Asp96=) SNV Uncertain significance 342921 rs753817211 3:12421408-12421408 3:12379909-12379909 BDY004 Body Mass Index Quantitative Trait Locus 11 PPARG NM_015869.4(PPARG):c.1206C>A (p.Phe402Leu) SNV Uncertain significance 343048 rs886057902 3:12458589-12458589 3:12417090-12417090 BDY004 Body Mass Index Quantitative Trait Locus 11 PPARG NM_015869.4(PPARG):c.1509C>T (p.Asp503=) SNV Uncertain significance 343051 rs886057903 3:12475635-12475635 3:12434136-12434136 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.-386G>A SNV Uncertain significance 327722 rs756482194 18:58039968-58039968 18:60372735-60372735 BDY004 Body Mass Index Quantitative Trait Locus 11 SMARCA4 NM_001128849.2(SMARCA4):c.4328G>A (p.Arg1443Gln) SNV Uncertain significance 328039 rs886054155 19:11152044-11152044 19:11041368-11041368 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.201G>A (p.Val67=) SNV Uncertain significance 327714 rs886054076 18:58039382-58039382 18:60372149-60372149 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.-18T>C SNV Uncertain significance 327715 rs886054077 18:58039600-58039600 18:60372367-60372367 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.-161C>T SNV Uncertain significance 327718 rs886054079 18:58039743-58039743 18:60372510-60372510 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.-220G>A SNV Uncertain significance 327720 rs772697287 18:58039802-58039802 18:60372569-60372569 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.776C>T (p.Ala259Val) SNV Uncertain significance 327712 rs762825773 18:58038807-58038807 18:60371574-60371574 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.-60C>G SNV Uncertain significance 327716 rs763156013 18:58039642-58039642 18:60372409-60372409 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.-66C>T SNV Uncertain significance 327717 rs886054078 18:58039648-58039648 18:60372415-60372415 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.-375G>T SNV Uncertain significance 327721 rs886054080 18:58039957-58039957 18:60372724-60372724 BDY004 Body Mass Index Quantitative Trait Locus 11 DEAF1 NM_021008.3(DEAF1):c.667G>A (p.Gly223Ser) SNV Uncertain significance 373980 rs1057518811 11:686995-686995 11:686995-686995 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.677T>C (p.Ile226Thr) SNV Uncertain significance 36485 rs193922686 18:58038906-58038906 18:60371673-60371673 BDY004 Body Mass Index Quantitative Trait Locus 11 BDNF NM_001709.5(BDNF):c.5C>T (p.Thr2Ile) SNV Uncertain significance 17696 rs8192466 11:27680107-27680107 11:27658560-27658560 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.972C>T (p.Gly324=) SNV Uncertain significance 211443 rs150448918 18:58038611-58038611 18:60371378-60371378 BDY004 Body Mass Index Quantitative Trait Locus 11 POMC NM_000939.4(POMC):c.474G>T (p.Lys158Asn) SNV Uncertain significance 335355 rs373721473 2:25384280-25384280 2:25161411-25161411 BDY004 Body Mass Index Quantitative Trait Locus 11 POMC NM_000939.4(POMC):c.-20-906C>T SNV Uncertain significance 335361 rs886055855 2:25388567-25388567 2:25165698-25165698 BDY004 Body Mass Index Quantitative Trait Locus 11 POMC NM_000939.4(POMC):c.4C>T (p.Pro2Ser) SNV Uncertain significance 335359 rs752925315 2:25387638-25387638 2:25164769-25164769 BDY004 Body Mass Index Quantitative Trait Locus 11 POMC NM_000939.4(POMC):c.*120A>G SNV Uncertain significance 335351 rs886055853 2:25383830-25383830 2:25160961-25160961 BDY004 Body Mass Index Quantitative Trait Locus 11 UCP3 NM_003356.4(UCP3):c.365C>T (p.Ala122Val) SNV Uncertain significance 800838 11:73716951-73716951 11:74005906-74005906 BDY004 Body Mass Index Quantitative Trait Locus 11 PYY NM_004160.5(PYY):c.185A>C (p.Gln62Pro) SNV Uncertain significance 8822 rs267606994 17:42030667-42030667 17:43953299-43953299 BDY004 Body Mass Index Quantitative Trait Locus 11 PPARG NM_015869.5(PPARG):c.521A>G (p.Asp174Gly) SNV Uncertain significance 901055 3:12434153-12434153 3:12392654-12392654 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.523G>A (p.Ala175Thr) SNV Uncertain significance 14330 rs121913563 18:58039060-58039060 18:60371827-60371827 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.821A>G (p.Asn274Ser) SNV Uncertain significance 14324 rs121913561 18:58038762-58038762 18:60371529-60371529 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.827A>G (p.Tyr276Cys) SNV Uncertain significance 435827 rs748627503 18:58038756-58038756 18:60371523-60371523 BDY004 Body Mass Index Quantitative Trait Locus 11 SZT2 NM_001365999.1(SZT2):c.9893G>A (p.Arg3298His) SNV Uncertain significance 397631 rs1060499723 1:43914079-43914079 1:43448408-43448408 BDY004 Body Mass Index Quantitative Trait Locus 11 POMC NM_000939.4(POMC):c.429C>G (p.His143Gln) SNV Uncertain significance 451178 rs201519174 2:25384325-25384325 2:25161456-25161456 BDY004 Body Mass Index Quantitative Trait Locus 11 PRDM9 GRCh37/hg19 5p14.3-14.2(chr5:22308420-24492723) copy number gain Uncertain significance 523302 5:22308420-24492723 BDY004 Body Mass Index Quantitative Trait Locus 11 C5orf17 GRCh37/hg19 5p14.3-14.2(chr5:22308420-24492723) copy number gain Uncertain significance 523302 5:22308420-24492723 BDY004 Body Mass Index Quantitative Trait Locus 11 CDH10 GRCh37/hg19 5p14.3-14.2(chr5:22308420-24492723) copy number gain Uncertain significance 523302 5:22308420-24492723 BDY004 Body Mass Index Quantitative Trait Locus 11 CDH12 GRCh37/hg19 5p14.3-14.2(chr5:22308420-24492723) copy number gain Uncertain significance 523302 5:22308420-24492723 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.914G>A (p.Arg305Gln) SNV Uncertain significance 524206 rs775382722 18:58038669-58038669 18:60371436-60371436 BDY004 Body Mass Index Quantitative Trait Locus 11 NTRK2 NM_006180.4(NTRK2):c.2000C>G (p.Ser667Trp) SNV Uncertain significance 559485 rs777251032 9:87570260-87570260 9:84955345-84955345 BDY004 Body Mass Index Quantitative Trait Locus 11 ULK4 NC_000003.12:g.41359534_41821951del deletion Uncertain significance 632552 3:41359534-41821951 BDY004 Body Mass Index Quantitative Trait Locus 11 POMC NM_001035256.2(POMC):c.297_298ins90 (p.?) insertion Uncertain significance 592127 2:25384456-25384457 2:25161587-25161588 BDY004 Body Mass Index Quantitative Trait Locus 11 PAX8 NM_003466.4(PAX8):c.1011del (p.Val339fs) deletion Uncertain significance 598954 rs1558700308 2:113993047-113993047 2:113235470-113235470 BDY004 Body Mass Index Quantitative Trait Locus 11 SYNE2 NM_182914.2(SYNE2):c.19624G>T (p.Gly6542Trp) SNV Uncertain significance 598975 rs746433383 14:64685197-64685197 14:64218479-64218479 BDY004 Body Mass Index Quantitative Trait Locus 11 RYR1 NM_000540.2(RYR1):c.10097G>T (p.Arg3366Leu) SNV Uncertain significance 598974 rs137932199 19:39009932-39009932 19:38519292-38519292 BDY004 Body Mass Index Quantitative Trait Locus 11 ZNF778 NM_001201407.1(ZNF778):c.1894C>T (p.Leu632Phe) SNV Uncertain significance 619121 rs760873642 16:89294590-89294590 16:89228182-89228182 BDY004 Body Mass Index Quantitative Trait Locus 11 POMC NM_000939.4(POMC):c.642G>A (p.Glu214=) SNV Uncertain significance 898577 2:25384112-25384112 2:25161243-25161243 BDY004 Body Mass Index Quantitative Trait Locus 11 POMC NM_000939.4(POMC):c.638C>T (p.Ala213Val) SNV Uncertain significance 895579 2:25384116-25384116 2:25161247-25161247 BDY004 Body Mass Index Quantitative Trait Locus 11 POMC NM_000939.4(POMC):c.498C>T (p.Asp166=) SNV Uncertain significance 895580 2:25384256-25384256 2:25161387-25161387 BDY004 Body Mass Index Quantitative Trait Locus 11 POMC NM_000939.4(POMC):c.491C>T (p.Ala164Val) SNV Uncertain significance 895581 2:25384263-25384263 2:25161394-25161394 BDY004 Body Mass Index Quantitative Trait Locus 11 POMC NM_000939.4(POMC):c.394C>G (p.Pro132Ala) SNV Uncertain significance 896986 2:25384360-25384360 2:25161491-25161491 BDY004 Body Mass Index Quantitative Trait Locus 11 POMC NM_000939.4(POMC):c.283A>G (p.Ser95Gly) SNV Uncertain significance 896987 2:25384471-25384471 2:25161602-25161602 BDY004 Body Mass Index Quantitative Trait Locus 11 POMC NM_000939.4(POMC):c.116C>T (p.Thr39Met) SNV Uncertain significance 897472 2:25387526-25387526 2:25164657-25164657 BDY004 Body Mass Index Quantitative Trait Locus 11 POMC NM_001035256.2(POMC):c.-263C>A SNV Uncertain significance 895643 2:25391559-25391559 2:25168690-25168690 BDY004 Body Mass Index Quantitative Trait Locus 11 PPARG NM_015869.5(PPARG):c.146A>C (p.Asp49Ala) SNV Uncertain significance 901544 3:12421266-12421266 3:12379767-12379767 BDY004 Body Mass Index Quantitative Trait Locus 11 KIF4A NM_012310.5(KIF4A):c.1553G>C (p.Arg518Pro) SNV Uncertain significance 523498 rs766819113 X:69573536-69573536 X:70353686-70353686 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.-263A>G SNV Uncertain significance 890984 18:58039845-58039845 18:60372612-60372612 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.-295A>G SNV Uncertain significance 890985 18:58039877-58039877 18:60372644-60372644 BDY004 Body Mass Index Quantitative Trait Locus 11 POMC NM_000939.4(POMC):c.801G>A (p.Glu267=) SNV Uncertain significance 898575 2:25383953-25383953 2:25161084-25161084 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.-359C>A SNV Uncertain significance 890986 18:58039941-58039941 18:60372708-60372708 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.-360G>A SNV Uncertain significance 890987 18:58039942-58039942 18:60372709-60372709 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.949A>T (p.Ile317Phe) SNV Uncertain significance 890361 18:58038634-58038634 18:60371401-60371401 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.929G>A (p.Arg310Lys) SNV Uncertain significance 890917 18:58038654-58038654 18:60371421-60371421 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.836G>A (p.Cys279Tyr) SNV Uncertain significance 890918 18:58038747-58038747 18:60371514-60371514 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.815C>G (p.Pro272Arg) SNV Uncertain significance 890919 18:58038768-58038768 18:60371535-60371535 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.655G>T (p.Ala219Ser) SNV Uncertain significance 890920 18:58038928-58038928 18:60371695-60371695 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.645G>A (p.Met215Ile) SNV Uncertain significance 892153 18:58038938-58038938 18:60371705-60371705 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.534G>A (p.Thr178=) SNV Uncertain significance 892154 18:58039049-58039049 18:60371816-60371816 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.405A>C (p.Ala135=) SNV Uncertain significance 892155 18:58039178-58039178 18:60371945-60371945 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.373A>G (p.Ile125Val) SNV Uncertain significance 892156 18:58039210-58039210 18:60371977-60371977 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.21T>C (p.Arg7=) SNV Uncertain significance 888708 18:58039562-58039562 18:60372329-60372329 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.15C>T (p.Thr5=) SNV Uncertain significance 888709 18:58039568-58039568 18:60372335-60372335 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.-59G>A SNV Uncertain significance 888710 18:58039641-58039641 18:60372408-60372408 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.-64G>A SNV Uncertain significance 890413 18:58039646-58039646 18:60372413-60372413 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.-121G>A SNV Uncertain significance 890414 18:58039703-58039703 18:60372470-60372470 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.-176A>G SNV Uncertain significance 890415 18:58039758-58039758 18:60372525-60372525 BDY004 Body Mass Index Quantitative Trait Locus 11 TBX3 NM_005996.4(TBX3):c.1208G>A (p.Arg403Gln) SNV Likely benign 499463 rs145432134 12:115112472-115112472 12:114674667-114674667 BDY004 Body Mass Index Quantitative Trait Locus 11 LEPR NM_002303.5(LEPR):c.3423C>T (p.Tyr1141=) SNV Likely benign 36467 rs193922651 1:66102623-66102623 1:65636940-65636940 BDY004 Body Mass Index Quantitative Trait Locus 11 UCP3 NM_003356.4(UCP3):c.427C>T (p.Arg143Ter) SNV Likely benign 7577 rs104894319 11:73716889-73716889 11:74005844-74005844 BDY004 Body Mass Index Quantitative Trait Locus 11 PPARG NM_015869.4(PPARG):c.1431C>T (p.His477=) SNV Likely benign 8139 rs3856806 3:12475557-12475557 3:12434058-12434058 BDY004 Body Mass Index Quantitative Trait Locus 11 POMC NM_000939.4(POMC):c.641A>G (p.Glu214Gly) SNV Likely benign 211936 rs80326661 2:25384113-25384113 2:25161244-25161244 BDY004 Body Mass Index Quantitative Trait Locus 11 PPARG NM_015869.4(PPARG):c.34C>G (p.Pro12Ala) SNV Likely benign 130019 rs1801282 3:12393125-12393125 3:12351626-12351626 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) SNV Benign/Likely benign 218329 rs52820871 18:58038832-58038832 18:60371599-60371599 BDY004 Body Mass Index Quantitative Trait Locus 11 CYTB m.15497G>A SNV Benign/Likely benign 9687 rs199951903 MT:15497-15497 MT:15497-15497 BDY004 Body Mass Index Quantitative Trait Locus 11 POMC NM_000939.4(POMC):c.346C>T (p.Leu116=) SNV Benign/Likely benign 728820 2:25384408-25384408 2:25161539-25161539 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.468G>A (p.Gln156=) SNV Benign/Likely benign 749502 18:58039115-58039115 18:60371882-60371882 BDY004 Body Mass Index Quantitative Trait Locus 11 PPARG NM_015869.4(PPARG):c.1371A>G (p.Ser457=) SNV Benign/Likely benign 343049 rs41516544 3:12475497-12475497 3:12433998-12433998 BDY004 Body Mass Index Quantitative Trait Locus 11 PPARG NM_015869.4(PPARG):c.1452C>T (p.Ile484=) SNV Benign/Likely benign 343050 rs149367249 3:12475578-12475578 3:12434079-12434079 BDY004 Body Mass Index Quantitative Trait Locus 11 PPARG NM_015869.4(PPARG):c.-22C>T SNV Benign/Likely benign 342919 rs200479885 3:12393070-12393070 3:12351571-12351571 BDY004 Body Mass Index Quantitative Trait Locus 11 PPARG NM_015869.4(PPARG):c.891C>G (p.Pro297=) SNV Benign 343047 rs13306747 3:12458274-12458274 3:12416775-12416775 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.-178A>C SNV Benign 327719 rs34114122 18:58039760-58039760 18:60372527-60372527 BDY004 Body Mass Index Quantitative Trait Locus 11 POMC NM_000939.4(POMC):c.585C>T (p.Ala195=) SNV Benign 335354 rs2071345 2:25384169-25384169 2:25161300-25161300 BDY004 Body Mass Index Quantitative Trait Locus 11 POMC NM_000939.4(POMC):c.*63C>T SNV Benign 335352 rs1042571 2:25383887-25383887 2:25161018-25161018 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.-216C>T SNV Benign 890416 18:58039798-58039798 18:60372565-60372565 BDY004 Body Mass Index Quantitative Trait Locus 11 BDNF NM_001709.5(BDNF):c.-21-15633G>A SNV Benign 559486 rs1564961192 11:27695765-27695765 11:27674218-27674218 BDY004 Body Mass Index Quantitative Trait Locus 11 ENPP1 NM_006208.3(ENPP1):c.*1043A>G SNV Benign 13590 rs7754561 6:132212694-132212694 6:131891554-131891554 BDY004 Body Mass Index Quantitative Trait Locus 11 ENPP1 NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) SNV Benign 13589 rs1044498 6:132172368-132172368 6:131851228-131851228 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.307G>A (p.Val103Ile) SNV Benign 218330 rs2229616 18:58039276-58039276 18:60372043-60372043 BDY004 Body Mass Index Quantitative Trait Locus 11 MC4R NM_005912.3(MC4R):c.594C>T (p.Ile198=) SNV Benign 259890 rs61741819 18:58038989-58038989 18:60371756-60371756 BDY004 Body Mass Index Quantitative Trait Locus 11 POMC NM_000939.4(POMC):c.282C>T (p.Ser94=) SNV Benign 335356 rs28930368 2:25384472-25384472 2:25161603-25161603 BDY004 Body Mass Index Quantitative Trait Locus 11 ATP6 NC_012920.1:m.8993T>G SNV Pathogenic 9641 rs199476133 MT:8993-8993 MT:8993-8993 CMP039 Camptodactyly 1 PIGL NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) SNV Conflicting interpretations of pathogenicity 30544 rs145303331 17:16220000-16220000 17:16316686-16316686 CMP039 Camptodactyly 1 PIGL NM_004278.4(PIGL):c.176C>A (p.Pro59His) SNV Uncertain significance 374175 rs1057518948 17:16120716-16120716 17:16217402-16217402 CMP039 Camptodactyly 1 PLN NM_002667.5(PLN):c.116T>G (p.Leu39Ter) SNV Pathogenic/Likely pathogenic 13637 rs111033560 6:118880200-118880200 6:118559037-118559037 CRD119 Cardiac Arrest DSP NM_004415.4(DSP):c.2821C>T (p.Arg941Ter) SNV Pathogenic/Likely pathogenic 180326 rs730880082 6:7577219-7577219 6:7576986-7576986 CRD119 Cardiac Arrest CACNB2 NM_201596.3(CACNB2):c.1642G>A (p.Gly548Ser) SNV Conflicting interpretations of pathogenicity 180290 rs730880059 10:18828312-18828312 10:18539383-18539383 CRD119 Cardiac Arrest DSG2 NM_001943.5(DSG2):c.1063G>A (p.Ala355Thr) SNV Conflicting interpretations of pathogenicity 191629 rs201046640 18:29110998-29110998 18:31531035-31531035 CRD119 Cardiac Arrest MYBPC3 NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr) SNV Conflicting interpretations of pathogenicity 42711 rs370890951 11:47354463-47354463 11:47332912-47332912 CRD119 Cardiac Arrest RBM20 NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) SNV Conflicting interpretations of pathogenicity 43995 rs201370621 10:112581039-112581039 10:110821281-110821281 CRD119 Cardiac Arrest DSG2 NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) SNV Conflicting interpretations of pathogenicity 44317 rs113451409 18:29101120-29101120 18:31521157-31521157 CRD119 Cardiac Arrest TTN NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys) SNV Conflicting interpretations of pathogenicity 46820 rs375266859 2:179571371-179571371 2:178706644-178706644 CRD119 Cardiac Arrest SCN5A NM_198056.2(SCN5A):c.559A>G (p.Thr187Ala) SNV Conflicting interpretations of pathogenicity 222801 rs869025517 3:38662386-38662386 3:38620895-38620895 CRD119 Cardiac Arrest SLMAP NM_007159.4(SLMAP):c.1918+1G>A SNV Uncertain significance 222824 rs869025527 3:57898429-57898429 3:57912702-57912702 CRD119 Cardiac Arrest ANK2 NM_001148.6(ANK2):c.5509G>A (p.Ala1837Thr) SNV Uncertain significance 222498 rs199527708 4:114275283-114275283 4:113354127-113354127 CRD119 Cardiac Arrest ANK2 NM_001148.6(ANK2):c.7458C>G (p.His2486Gln) SNV Uncertain significance 222502 rs776972443 4:114277232-114277232 4:113356076-113356076 CRD119 Cardiac Arrest ANK2 NM_001148.6(ANK2):c.7577C>T (p.Ser2526Leu) SNV Uncertain significance 222503 rs762909298 4:114277351-114277351 4:113356195-113356195 CRD119 Cardiac Arrest DSP NM_004415.4(DSP):c.2047G>A (p.Glu683Lys) SNV Uncertain significance 222574 rs775181391 6:7572218-7572218 6:7571985-7571985 CRD119 Cardiac Arrest AKAP9 NM_005751.4(AKAP9):c.1067A>T (p.Asp356Val) SNV Uncertain significance 222487 rs533277424 7:91630298-91630298 7:92000984-92000984 CRD119 Cardiac Arrest DSP NM_004415.4(DSP):c.7249G>T (p.Asp2417Tyr) SNV Uncertain significance 222585 rs760501352 6:7584744-7584744 6:7584511-7584511 CRD119 Cardiac Arrest DPP6 NM_130797.4(DPP6):c.1039G>A (p.Ala347Thr) SNV Uncertain significance 222554 rs770646362 7:154564555-154564555 7:154772845-154772845 CRD119 Cardiac Arrest AKAP9 NM_005751.4(AKAP9):c.11276C>T (p.Pro3759Leu) SNV Uncertain significance 222492 rs869025356 7:91732086-91732086 7:92102772-92102772 CRD119 Cardiac Arrest CACNB2 NM_201596.3(CACNB2):c.1594T>G (p.Ser532Ala) SNV Uncertain significance 222520 rs869025371 10:18828264-18828264 10:18539335-18539335 CRD119 Cardiac Arrest VCL NM_014000.2(VCL):c.1559G>A (p.Arg520Gln) SNV Uncertain significance 222888 rs757009736 10:75855429-75855429 10:74095671-74095671 CRD119 Cardiac Arrest MYOM1 NM_003803.3(MYOM1):c.3708C>A (p.Ser1236Arg) SNV Uncertain significance 222745 rs869025489 18:3100176-3100176 18:3100178-3100178 CRD119 Cardiac Arrest KCNJ8 NM_004982.4(KCNJ8):c.83G>C (p.Arg28Pro) SNV Uncertain significance 222678 rs768851540 12:21926468-21926468 12:21773534-21773534 CRD119 Cardiac Arrest HCN4 NM_005477.3(HCN4):c.2197G>A (p.Val733Ile) SNV Uncertain significance 222648 rs376631391 15:73616237-73616237 15:73323896-73323896 CRD119 Cardiac Arrest DSG2 NM_001943.5(DSG2):c.2188A>G (p.Thr730Ala) SNV Uncertain significance 222564 rs780650226 18:29122669-29122669 18:31542706-31542706 CRD119 Cardiac Arrest TRPM4 NM_017636.4(TRPM4):c.1069C>T (p.Arg357Trp) SNV Uncertain significance 222852 rs764690335 19:49675284-49675284 19:49172027-49172027 CRD119 Cardiac Arrest AKAP9 NM_005751.4(AKAP9):c.11378C>G (p.Ser3793Cys) SNV Uncertain significance 180266 rs730880044 7:91735039-91735039 7:92105725-92105725 CRD119 Cardiac Arrest RYR2 NM_001035.3(RYR2):c.13759A>C (p.Ile4587Leu) SNV Uncertain significance 180504 rs730880198 1:237955600-237955600 1:237792300-237792300 CRD119 Cardiac Arrest RYR2 NM_001035.3(RYR2):c.378T>A (p.Ser126Arg) SNV Uncertain significance 222783 rs869025507 1:237532902-237532902 1:237369602-237369602 CRD119 Cardiac Arrest SCN5A NM_001099404.1(SCN5A):c.5075T>C (p.Phe1692Ser) SNV Uncertain significance 222813 rs869025521 3:38592788-38592788 3:38551297-38551297 CRD119 Cardiac Arrest MYH6 NM_002471.3(MYH6):c.4713G>T (p.Lys1571Asn) SNV Uncertain significance 180427 rs730880151 14:23855770-23855770 14:23386561-23386561 CRD119 Cardiac Arrest DSP NM_004415.4(DSP):c.2260G>A (p.Glu754Lys) SNV Uncertain significance 180323 rs730880080 6:7574448-7574448 6:7574215-7574215 CRD119 Cardiac Arrest CACNB2 NM_201596.3(CACNB2):c.1206+3A>T SNV Uncertain significance 180291 rs200174877 10:18823159-18823159 10:18534230-18534230 CRD119 Cardiac Arrest AKAP9 NM_005751.4(AKAP9):c.1099G>A (p.Val367Met) SNV Likely benign 180260 rs138161478 7:91630330-91630330 7:92001016-92001016 CRD119 Cardiac Arrest ANK2 NM_001148.6(ANK2):c.6206G>A (p.Arg2069His) SNV Likely benign 180270 rs149645600 4:114275980-114275980 4:113354824-113354824 CRD119 Cardiac Arrest SCN5A NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) SNV Benign/Likely benign 67683 rs36210423 3:38645378-38645378 3:38603887-38603887 CRD119 Cardiac Arrest DSC2 NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) SNV Benign/Likely benign 46160 rs139399951 18:28662896-28662896 18:31082930-31082930 CRD119 Cardiac Arrest CACNA2D1 NM_000722.4(CACNA2D1):c.2264G>C (p.Ser755Thr) SNV Benign/Likely benign 180288 rs151327713 7:81599241-81599241 7:81969925-81969925 CRD119 Cardiac Arrest ATP6 m.8528T>C SNV Pathogenic 9640 rs387906422 MT:8528-8528 MT:8528-8528 CRD231 Cardiomyopathy, Infantile Histiocytoid ATP8 m.8528T>C SNV Pathogenic 9640 rs387906422 MT:8528-8528 MT:8528-8528 CRD231 Cardiomyopathy, Infantile Histiocytoid NDUFB11 NM_019056.6(NDUFB11):c.262C>T (p.Arg88Ter) SNV Pathogenic 190302 rs786205225 X:47002089-47002089 X:47142690-47142690 CRD231 Cardiomyopathy, Infantile Histiocytoid CYTB m.15498G>A SNV Uncertain significance 9684 rs207460003 MT:15498-15498 MT:15498-15498 CRD231 Cardiomyopathy, Infantile Histiocytoid FAM135A NM_001105531.2(FAM135A):c.474C>G (p.Tyr158Ter) SNV Likely benign 254142 rs748520978 6:71186967-71186967 6:70477264-70477264 CRD231 Cardiomyopathy, Infantile Histiocytoid ATP6 m.8528T>C SNV Pathogenic 9640 rs387906422 MT:8528-8528 MT:8528-8528 CRD219 Cardiomyopathy, Infantile Hypertrophic ATP8 m.8528T>C SNV Pathogenic 9640 rs387906422 MT:8528-8528 MT:8528-8528 CRD219 Cardiomyopathy, Infantile Hypertrophic LIM2 NM_001161748.2(LIM2):c.388C>T (p.Arg130Cys) SNV Pathogenic 625113 rs1568480054 19:51883831-51883831 19:51380577-51380577 CTR002 Cataract SIL1 NC_000005.10:g.139189727_139201554del deletion Pathogenic 812923 5:138525416-138537243 CTR002 Cataract RHO NM_000539.3(RHO):c.891C>G (p.Ser297Arg) SNV Pathogenic 523376 rs142285818 3:129251570-129251570 3:129532727-129532727 CTR002 Cataract IARS2 NM_018060.4(IARS2):c.2726C>T (p.Pro909Leu) SNV Pathogenic 156553 rs587783070 1:220316451-220316451 1:220143109-220143109 CTR002 Cataract WRN NM_000553.6(WRN):c.724+1G>T SNV Likely pathogenic 523380 rs1339616347 8:30925844-30925844 8:31068328-31068328 CTR002 Cataract COL5A1 NM_001278074.1(COL5A1):c.608G>T (p.Gly203Val) SNV Likely pathogenic 523328 rs1554781700 9:137593133-137593133 9:134701287-134701287 CTR002 Cataract COL18A1 NM_030582.4(COL18A1):c.1469-2A>G SNV Likely pathogenic 373962 rs765919785 21:46897323-46897323 21:45477409-45477409 CTR002 Cataract COL18A1 NM_030582.4(COL18A1):c.3979C>T (p.Arg1327Ter) SNV Likely pathogenic 373961 rs1057518802 21:46929468-46929468 21:45509554-45509554 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-1385+12T>C SNV Conflicting interpretations of pathogenicity 901581 4:111563063-111563063 4:110641907-110641907 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-79G>A SNV Conflicting interpretations of pathogenicity 900591 4:111558005-111558005 4:110636849-110636849 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-211G>A SNV Conflicting interpretations of pathogenicity 902274 4:111558137-111558137 4:110636981-110636981 CTR002 Cataract PITX2 NM_000325.6(PITX2):c.619A>G (p.Met207Val) SNV Conflicting interpretations of pathogenicity 559593 rs138163892 4:111539637-111539637 4:110618481-110618481 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-793C>A SNV Conflicting interpretations of pathogenicity 902484 4:111558719-111558719 4:110637563-110637563 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-967C>T SNV Conflicting interpretations of pathogenicity 900892 4:111558893-111558893 4:110637737-110637737 CTR002 Cataract PITX2 NM_000325.6(PITX2):c.639A>T (p.Ser213=) SNV Conflicting interpretations of pathogenicity 283383 rs141176394 4:111539617-111539617 4:110618461-110618461 CTR002 Cataract EPM2A NM_005670.4(EPM2A):c.376A>G (p.Ile126Val) SNV Conflicting interpretations of pathogenicity 167038 rs150452237 6:146007358-146007358 6:145686222-145686222 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-1532C>A SNV Conflicting interpretations of pathogenicity 901637 4:111563222-111563222 4:110642066-110642066 CTR002 Cataract PITX2 NM_000325.6(PITX2):c.*340A>G SNV Conflicting interpretations of pathogenicity 347294 rs551209662 4:111538941-111538941 4:110617785-110617785 CTR002 Cataract PITX2 NM_000325.6(PITX2):c.862C>T (p.Leu288=) SNV Conflicting interpretations of pathogenicity 347298 rs139401187 4:111539394-111539394 4:110618238-110618238 CTR002 Cataract PITX2 NM_000325.6(PITX2):c.224A>C (p.Gln75Pro) SNV Conflicting interpretations of pathogenicity 347300 rs201628949 4:111542507-111542507 4:110621351-110621351 CTR002 Cataract MIP NM_012064.4(MIP):c.*1777dup duplication Uncertain significance 309861 rs886049688 12:56843286-56843287 12:56449502-56449503 CTR002 Cataract PITX2 NM_000325.6(PITX2):c.*176A>T SNV Uncertain significance 347296 rs567517676 4:111539105-111539105 4:110617949-110617949 CTR002 Cataract PITX2 NM_000325.6(PITX2):c.*119T>A SNV Uncertain significance 347297 rs765040142 4:111539162-111539162 4:110618006-110618006 CTR002 Cataract MIP NM_012064.4(MIP):c.*1237_*1238dup duplication Uncertain significance 309864 rs111463603 12:56843825-56843826 12:56450041-56450042 CTR002 Cataract PITX2 NM_000325.6(PITX2):c.*370G>C SNV Uncertain significance 347293 rs886059005 4:111538911-111538911 4:110617755-110617755 CTR002 Cataract PITX2 NM_000325.6(PITX2):c.*264A>C SNV Uncertain significance 347295 rs886059006 4:111539017-111539017 4:110617861-110617861 CTR002 Cataract PITX2 NM_000325.6(PITX2):c.412-11del deletion Uncertain significance 347299 rs886059007 4:111539855-111539855 4:110618699-110618699 CTR002 Cataract PITX2 NM_000325.6(PITX2):c.*611A>G SNV Uncertain significance 347288 rs886059002 4:111538670-111538670 4:110617514-110617514 CTR002 Cataract PITX2 NM_000325.6(PITX2):c.*522T>C SNV Uncertain significance 347290 rs188349821 4:111538759-111538759 4:110617603-110617603 CTR002 Cataract PITX2 NM_000325.6(PITX2):c.*572T>C SNV Uncertain significance 347289 rs886059003 4:111538709-111538709 4:110617553-110617553 CTR002 Cataract PITX2 NM_000325.6(PITX2):c.*373_*375GTT[1] short repeat Uncertain significance 347292 rs886059004 4:111538903-111538905 4:110617747-110617749 CTR002 Cataract PITX2 NM_000325.6(PITX2):c.412-7C>T SNV Uncertain significance 899414 4:111539851-111539851 4:110618695-110618695 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-1078C>A SNV Uncertain significance 899796 4:111559004-111559004 4:110637848-110637848 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-1092G>A SNV Uncertain significance 899797 4:111559018-111559018 4:110637862-110637862 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-1411C>T SNV Uncertain significance 901582 4:111563101-111563101 4:110641945-110641945 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-1421G>C SNV Uncertain significance 899913 4:111563111-111563111 4:110641955-110641955 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-1422C>A SNV Uncertain significance 899914 4:111563112-111563112 4:110641956-110641956 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-1491G>A SNV Uncertain significance 901089 4:111563181-111563181 4:110642025-110642025 CTR002 Cataract UPF3B NM_080632.2(UPF3B):c.758T>C (p.Ile253Thr) SNV Uncertain significance 284394 rs754982440 X:118975088-118975088 X:119841125-119841125 CTR002 Cataract CRYGD NM_006891.3(CRYGD):c.-80A>C SNV Uncertain significance 333880 rs886055528 2:208989277-208989277 2:208124553-208124553 CTR002 Cataract XDH NM_000379.4(XDH):c.3647C>A (p.Pro1216His) SNV Uncertain significance 335760 rs143981573 2:31562482-31562482 2:31339616-31339616 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-920C>T SNV Uncertain significance 899730 4:111558846-111558846 4:110637690-110637690 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-966A>G SNV Uncertain significance 899731 4:111558892-111558892 4:110637736-110637736 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-1137G>A SNV Uncertain significance 902615 4:111559063-111559063 4:110637907-110637907 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-1209C>T SNV Uncertain significance 899850 4:111559135-111559135 4:110637979-110637979 CTR002 Cataract XDH NM_000379.4(XDH):c.1172C>T (p.Pro391Leu) SNV Uncertain significance 598996 rs1558697792 2:31602803-31602803 2:31379937-31379937 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-501T>G SNV Uncertain significance 899665 4:111558427-111558427 4:110637271-110637271 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-515C>T SNV Uncertain significance 899666 4:111558441-111558441 4:110637285-110637285 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-670C>T SNV Uncertain significance 900813 4:111558596-111558596 4:110637440-110637440 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-429C>G SNV Uncertain significance 899596 4:111558355-111558355 4:110637199-110637199 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-436G>C SNV Uncertain significance 899597 4:111558362-111558362 4:110637206-110637206 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-483C>T SNV Uncertain significance 900734 4:111558409-111558409 4:110637253-110637253 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-245G>A SNV Uncertain significance 899519 4:111558171-111558171 4:110637015-110637015 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-270A>G SNV Uncertain significance 899520 4:111558196-111558196 4:110637040-110637040 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-300A>T SNV Uncertain significance 900657 4:111558226-111558226 4:110637070-110637070 CTR002 Cataract TALDO1 NM_006755.2(TALDO1):c.328A>G (p.Arg110Gly) SNV Uncertain significance 523493 rs766745943 11:759056-759056 11:759056-759056 CTR002 Cataract MMAA NM_172250.3(MMAA):c.304G>A (p.Ala102Thr) SNV Uncertain significance 523564 rs1328584680 4:146560595-146560595 4:145639443-145639443 CTR002 Cataract EPM2A NM_005670.4(EPM2A):c.*1691G>A SNV Uncertain significance 523391 rs750320097 6:145946861-145946861 6:145625725-145625725 CTR002 Cataract PITX2 NM_000325.6(PITX2):c.*696A>C SNV Uncertain significance 901346 4:111538585-111538585 4:110617429-110617429 CTR002 Cataract PITX2 NM_000325.6(PITX2):c.*687A>G SNV Uncertain significance 901347 4:111538594-111538594 4:110617438-110617438 CTR002 Cataract PITX2 NM_000325.6(PITX2):c.*440C>T SNV Uncertain significance 902850 4:111538841-111538841 4:110617685-110617685 CTR002 Cataract PITX2 NM_000325.6(PITX2):c.*173G>A SNV Uncertain significance 900360 4:111539108-111539108 4:110617952-110617952 CTR002 Cataract PITX2 NM_000325.6(PITX2):c.*107A>C SNV Uncertain significance 901514 4:111539174-111539174 4:110618018-110618018 CTR002 Cataract PITX2 NM_000325.6(PITX2):c.695G>A (p.Ser232Asn) SNV Uncertain significance 900415 4:111539561-111539561 4:110618405-110618405 CTR002 Cataract PITX2 NM_000325.6(PITX2):c.282G>T (p.Arg94=) SNV Uncertain significance 900537 4:111542449-111542449 4:110621293-110621293 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-40G>A SNV Uncertain significance 899457 4:111557966-111557966 4:110636810-110636810 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-53G>A SNV Uncertain significance 899458 4:111557979-111557979 4:110636823-110636823 CTR002 Cataract MIP NM_012064.4(MIP):c.*132del deletion Uncertain significance 309882 rs886049691 12:56844932-56844932 12:56451148-56451148 CTR002 Cataract MIP NM_012064.4(MIP):c.*148dup duplication Uncertain significance 309881 rs35639464 12:56844915-56844916 12:56451131-56451132 CTR002 Cataract HSF4 NM_001040667.3(HSF4):c.*30del deletion Uncertain significance 320192 rs756298250 16:67203717-67203717 16:67169814-67169814 CTR002 Cataract HSF4 NM_001538.3(HSF4):c.*158_*159dupTT duplication Uncertain significance 320194 rs3215366 16:67203835-67203836 16:67169932-67169933 CTR002 Cataract HSF4 NM_018378.3(FBXL8):c.803_804CG[4] (p.Val270fs) short repeat Likely benign 320164 rs763526640 16:67197400-67197401 16:67163497-67163498 CTR002 Cataract CRYGD NM_006891.3(CRYGD):c.-77T>C SNV Likely benign 333879 rs575552206 2:208989274-208989274 2:208124550-208124550 CTR002 Cataract BFSP2 NM_003571.4(BFSP2):c.*140del deletion Likely benign 343415 rs139190094 3:133193955-133193955 3:133475111-133475111 CTR002 Cataract MIP NM_012064.4(MIP):c.*1201_*1203ATT[2] short repeat Likely benign 309865 rs540359096 12:56843855-56843857 12:56450071-56450073 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.46+8C>G SNV Benign/Likely benign 196584 rs199896960 4:111554101-111554101 4:110632945-110632945 CTR002 Cataract PITX2 NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) SNV Benign/Likely benign 197884 rs77144743 4:111539694-111539694 4:110618538-110618538 CTR002 Cataract PITX2 NM_000325.6(PITX2):c.618T>G (p.Ser206=) SNV Benign/Likely benign 262718 rs35946364 4:111539638-111539638 4:110618482-110618482 CTR002 Cataract PITX2 NM_000325.6(PITX2):c.819G>A (p.Pro273=) SNV Benign/Likely benign 167472 rs148191851 4:111539437-111539437 4:110618281-110618281 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-1111C>G SNV Benign/Likely benign 900960 4:111559037-111559037 4:110637881-110637881 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-362C>G SNV Benign/Likely benign 900658 4:111558288-111558288 4:110637132-110637132 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-1311G>T SNV Benign/Likely benign 899851 4:111559237-111559237 4:110638081-110638081 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-1335C>A SNV Benign/Likely benign 901030 4:111559261-111559261 4:110638105-110638105 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-1024G>A SNV Benign/Likely benign 902558 4:111558950-111558950 4:110637794-110637794 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-1068C>T SNV Benign 903410 4:111558994-111558994 4:110637838-110637838 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-485C>G SNV Benign 902412 4:111558411-111558411 4:110637255-110637255 CTR002 Cataract PITX2 NM_153427.2(PITX2):c.-392G>T SNV Benign 902339 4:111558318-111558318 4:110637162-110637162 CTR002 Cataract PITX2 NM_000325.6(PITX2):c.*454C>T SNV Benign 183253 rs6533526 4:111538827-111538827 4:110617671-110617671 CTR002 Cataract PITX2 NM_000325.6(PITX2):c.*471G>A SNV Benign 347291 rs75911264 4:111538810-111538810 4:110617654-110617654 CTR002 Cataract MIP NM_012064.4(MIP):c.*762_*763del deletion Benign 309870 rs3840772 12:56844301-56844302 12:56450517-56450518 CTR002 Cataract MIP NM_012064.4(MIP):c.*1238dup duplication Benign 309863 rs111463603 12:56843825-56843826 12:56450041-56450042 CTR002 Cataract MIP NM_012064.4(MIP):c.*148del deletion Benign 309880 rs35639464 12:56844916-56844916 12:56451132-56451132 CTR002 Cataract MPZ NM_000530.8(MPZ):c.224A>T (p.Asp75Val) SNV Pathogenic 14184 rs121913597 1:161277058-161277058 1:161307268-161307268 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) SNV Pathogenic 14185 rs121913598 1:161277151-161277151 1:161307361-161307361 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.233C>T (p.Ser78Leu) SNV Pathogenic 14188 rs121913601 1:161277049-161277049 1:161307259-161307259 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.371C>T (p.Thr124Met) SNV Pathogenic 14181 rs121913595 1:161276575-161276575 1:161306785-161306785 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) SNV Pathogenic 14487 rs57318642 1:156106994-156106994 1:156137203-156137203 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.398G>T (p.Arg133Leu) SNV Pathogenic 14488 rs60864230 1:156100449-156100449 1:156130658-156130658 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) SNV Pathogenic 14489 rs57920071 1:156106775-156106775 1:156136984-156136984 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) SNV Pathogenic 14498 rs59885338 1:156105059-156105059 1:156135268-156135268 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1580G>A (p.Arg527His) SNV Pathogenic 14499 rs57520892 1:156106995-156106995 1:156137204-156137204 CHR071 Charcot-Marie-Tooth Disease EGR2 NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) SNV Pathogenic 16752 rs104894161 10:64573323-64573323 10:62813563-62813563 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.187G>A (p.Val63Ile) SNV Pathogenic 21081 rs116840818 X:70443744-70443744 X:71223894-71223894 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) SNV Pathogenic 21082 rs116840819 X:70443780-70443780 X:71223930-71223930 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) SNV Pathogenic 21084 rs116840815 X:70443600-70443600 X:71223750-71223750 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.556G>A (p.Glu186Lys) SNV Pathogenic 21086 rs116840821 X:70444113-70444113 X:71224263-71224263 CHR071 Charcot-Marie-Tooth Disease RETREG1 NM_001034850.2(RETREG1):c.18_19del (p.Pro7fs) deletion Pathogenic 21257 rs137852736 5:16617062-16617063 5:16616953-16616954 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1969G>A (p.Glu657Lys) SNV Pathogenic 21689 rs80338925 5:148407326-148407326 5:149027763-149027763 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) SNV Pathogenic 30029 rs387906738 14:102446843-102446843 14:101980506-101980506 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.694C>T (p.Arg232Cys) SNV Pathogenic 30472 rs387906904 12:110240814-110240814 12:109803009-109803009 CHR071 Charcot-Marie-Tooth Disease ATL1 NM_001127713.1(ATL1):c.1065C>A (p.Asn355Lys) SNV Pathogenic 30579 rs1555365597 14:51089912-51089912 14:50623194-50623194 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.2121_2122dup (p.Leu708fs) duplication Pathogenic 30860 rs786200930 9:130265125-130265126 9:127502846-127502847 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.347T>G (p.Met116Arg) SNV Pathogenic 38411 rs281865060 8:75272408-75272408 8:74360173-74360173 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.893T>G (p.Met298Arg) SNV Pathogenic 38445 rs63749871 12:32755151-32755151 12:32602217-32602217 CHR071 Charcot-Marie-Tooth Disease EGR2 NM_000399.5(EGR2):c.1142G>A (p.Arg381His) SNV Pathogenic 41008 rs281865137 10:64573256-64573256 10:62813496-62813496 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.244T>C (p.Tyr82His) SNV Pathogenic 41017 rs281865124 1:161276702-161276702 1:161306912-161306912 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr) SNV Pathogenic 41024 rs267607247 1:161275743-161275743 1:161305953-161305953 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) SNV Pathogenic 41236 rs58982919 8:24813737-24813737 8:24956223-24956223 CHR071 Charcot-Marie-Tooth Disease LITAF NM_001136473.1(LITAF):c.332C>G (p.Ala111Gly) SNV Pathogenic 41229 rs281865134 16:11647434-11647434 16:11553578-11553578 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.368A>G (p.His123Arg) SNV Pathogenic 50558 rs397515442 8:75272429-75272429 8:74360194-74360194 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.4(NEFL):c.1186G>A (p.Glu396Lys) SNV Pathogenic 66671 rs62636503 8:24811293-24811293 8:24953779-24953779 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.4(NEFL):c.23C>A (p.Pro8Gln) SNV Pathogenic 66687 rs61491953 8:24814007-24814007 8:24956493-24956493 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1908C>T (p.Ser636=) SNV Pathogenic 66875 rs80356814 1:156108488-156108488 1:156138697-156138697 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.4(NEFL):c.1319C>T (p.Pro440Leu) SNV Pathogenic 155738 rs587777882 8:24811160-24811160 8:24953646-24953646 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter) SNV Pathogenic 162194 rs372000714 11:68673588-68673588 11:68906120-68906120 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.2398C>A (p.Pro800Thr) SNV Pathogenic 187857 rs781249411 12:57909709-57909709 12:57515926-57515926 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.116C>T (p.Ala39Val) SNV Pathogenic 188136 rs786204095 X:70443673-70443673 X:71223823-71223823 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.4(NEFL):c.1261C>T (p.Arg421Ter) SNV Pathogenic 192322 rs191346286 8:24811218-24811218 8:24953704-24953704 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.746C>T (p.Ser249Phe) SNV Pathogenic 202171 rs794729198 1:12059082-12059082 1:11999025-11999025 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.499G>A (p.Gly167Arg) SNV Pathogenic 208149 rs121913586 1:161276204-161276204 1:161306414-161306414 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.487G>A (p.Gly163Arg) SNV Pathogenic 208148 rs281865128 1:161276216-161276216 1:161306426-161306426 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.181G>A (p.Asp61Asn) SNV Pathogenic 208146 rs797044845 1:161277101-161277101 1:161307311-161307311 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.1913-1G>A SNV Pathogenic 204301 rs756880678 9:130263288-130263288 9:127501009-127501009 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.279G>A (p.Lys93=) SNV Pathogenic 216120 rs776221160 5:148427425-148427425 5:149047862-149047862 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.305A>G (p.Glu102Gly) SNV Pathogenic 216038 rs779696968 X:70443862-70443862 X:71224012-71224012 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.646-10_650del deletion Pathogenic 217234 rs863225026 1:161275763-161275777 1:161305973-161305987 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.90C>G (p.Ile30Met) SNV Pathogenic 217235 rs770546306 1:161277192-161277192 1:161307402-161307402 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.327C>A (p.Cys109Ter) SNV Pathogenic 217237 rs863225028 17:15134390-15134390 17:15231073-15231073 CHR071 Charcot-Marie-Tooth Disease DNAJB2 NM_006736.6(DNAJB2):c.352+1G>A SNV Pathogenic 217886 rs756614404 2:220146784-220146784 2:219282062-219282062 CHR071 Charcot-Marie-Tooth Disease MORC2 NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) SNV Pathogenic 218307 rs864309503 22:31337490-31337490 22:30941503-30941503 CHR071 Charcot-Marie-Tooth Disease MORC2 NM_001303256.3(MORC2):c.260C>T (p.Ser87Leu) SNV Pathogenic 218308 rs864309504 22:31345795-31345795 22:30949809-30949809 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.106A>T (p.Arg36Trp) SNV Pathogenic 221065 rs864622732 1:161277176-161277176 1:161307386-161307386 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3303del (p.Arg1101fs) deletion Pathogenic 220822 rs864622664 5:148389857-148389857 5:149010294-149010294 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3154C>T (p.Arg1052Ter) SNV Pathogenic 220408 rs370115218 5:148392197-148392197 5:149012634-149012634 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg) SNV Pathogenic 220419 rs770272088 7:75932279-75932279 7:76302962-76302962 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.579+1G>A SNV Pathogenic 220379 rs864622501 8:75274214-75274214 8:74361979-74361979 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.556G>T (p.Glu186Ter) SNV Pathogenic 234612 rs116840821 X:70444113-70444113 X:71224263-71224263 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.403A>C (p.Ile135Leu) SNV Pathogenic 243089 rs879253858 1:161276543-161276543 1:161306753-161306753 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1091G>A (p.Arg364Gln) SNV Pathogenic 245944 rs879254011 1:12062091-12062091 1:12002034-12002034 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1198C>T (p.Arg400Ter) SNV Pathogenic 245768 rs879253939 1:12064086-12064086 1:12004029-12004029 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.188_190del (p.Ser63del) deletion Pathogenic 246121 rs879254109 1:161277092-161277094 1:161307302-161307304 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.129_136del (p.Ser44fs) deletion Pathogenic 246122 rs760730366 1:161277146-161277153 1:161307356-161307363 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.584+2T>G SNV Pathogenic 246029 rs879254054 1:161276117-161276117 1:161306327-161306327 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.3(NDRG1):c.681dup (p.Ile228fs) duplication Pathogenic 246500 rs879254290 8:134262699-134262700 8:133250456-133250457 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter) SNV Pathogenic 245608 rs770501034 8:75276294-75276294 8:74364059-74364059 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1082T>C (p.Leu361Pro) SNV Pathogenic 245627 rs201060167 11:68696672-68696672 11:68929204-68929204 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.112G>A (p.Val38Met) SNV Pathogenic 245946 rs879254012 X:70443669-70443669 X:71223819-71223819 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.231G>A (p.Trp77Ter) SNV Pathogenic 246095 rs879254096 X:70443788-70443788 X:71223938-71223938 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.282C>A (p.His94Gln) SNV Pathogenic 245724 rs756000896 X:70443839-70443839 X:71223989-71223989 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.759del (p.Phe254fs) deletion Pathogenic 254668 rs764717219 6:110059638-110059638 6:109738435-109738435 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.541G>A (p.Val181Met) SNV Pathogenic 245705 rs879253909 X:70444098-70444098 X:71224248-71224248 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.643C>T (p.Arg215Trp) SNV Pathogenic 246098 rs879254099 X:70444200-70444200 X:71224350-71224350 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.501del (p.Glu168fs) deletion Pathogenic 280104 rs886041386 8:75274135-75274135 8:74361900-74361900 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.992C>A (p.Ser331Tyr) SNV Pathogenic 372788 rs267607087 9:94809543-94809543 9:92047261-92047261 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.2642A>G (p.Asn881Ser) SNV Pathogenic 377021 rs80338930 5:148406653-148406653 5:149027090-149027090 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.233C>G (p.Ser78Trp) SNV Pathogenic 411669 rs121913601 1:161277049-161277049 1:161307259-161307259 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1415A>G (p.His472Arg) SNV Pathogenic 410314 rs1060502838 7:30661064-30661064 7:30621448-30621448 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.579del (p.Lys193fs) deletion Pathogenic 406137 rs1060500979 8:75274211-75274211 8:74361976-74361976 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.101T>C (p.Met34Thr) SNV Pathogenic 406224 rs1060500998 X:70443658-70443658 X:71223808-71223808 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.1373dup (p.Leu458fs) duplication Pathogenic 419553 rs770043095 6:110083391-110083392 6:109762188-109762189 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_001304480.1(FGD4):c.2213_2217AAAAG[2] (p.Lys742fs) short repeat Pathogenic 419181 rs751035912 12:32786595-32786599 12:32633661-32633665 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.493C>T (p.His165Tyr) SNV Pathogenic 439897 rs119103262 1:12057372-12057372 1:11997315-11997315 CHR071 Charcot-Marie-Tooth Disease SLC12A6 NM_001365088.1(SLC12A6):c.2436+1del deletion Pathogenic 436730 rs515726215 15:34532861-34532861 15:34240660-34240660 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.957del (p.Phe320fs) deletion Pathogenic 448371 rs1554122541 5:148417902-148417902 5:149038339-149038339 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.539C>T (p.Thr180Ile) SNV Pathogenic 447531 rs1422978230 7:75933411-75933411 7:76304094-76304094 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*3491_*3561del deletion Pathogenic 448139 rs1555800610 19:40900903-40900973 19:40394996-40395066 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) SNV Pathogenic 447441 rs1555937020 X:70443621-70443621 X:71223771-71223771 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.266T>C (p.Leu89Pro) SNV Pathogenic 447428 rs1555937122 X:70443823-70443823 X:71223973-71223973 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.548G>A (p.Arg183His) SNV Pathogenic 447435 rs1555937233 X:70444105-70444105 X:71224255-71224255 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.622G>A (p.Glu208Lys) SNV Pathogenic 447439 rs1555937270 X:70444179-70444179 X:71224329-71224329 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln) SNV Pathogenic 449535 rs1323153568 8:75276454-75276454 8:74364219-74364219 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.256C>T (p.Gln86Ter) SNV Pathogenic 462792 rs1553259703 1:161276690-161276690 1:161306900-161306900 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.103G>A (p.Asp35Asn) SNV Pathogenic 462790 rs121913596 1:161277179-161277179 1:161307389-161307389 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe) SNV Pathogenic 476747 rs1554338260 7:30651830-30651830 7:30612214-30612214 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.304_306del (p.Glu102del) deletion Pathogenic 477594 rs1555937135 X:70443861-70443863 X:71224011-71224013 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.515C>T (p.Pro172Leu) SNV Pathogenic 477599 rs1555937218 X:70444072-70444072 X:71224222-71224222 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.77C>G (p.Ser26Trp) SNV Pathogenic 477604 rs587777876 X:70443634-70443634 X:71223784-71223784 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1813C>T (p.Arg605Ter) SNV Pathogenic 488694 rs991227431 11:68703761-68703761 11:68936293-68936293 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.392_393TG[1] (p.Trp132fs) short repeat Pathogenic 521808 rs1555937168 X:70443951-70443952 X:71224099-71224100 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.313A>G (p.Thr105Ala) SNV Pathogenic 543234 rs1553142428 1:12056214-12056214 1:11996157-11996157 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.434_437del (p.Tyr145fs) deletion Pathogenic 531677 rs1553259643 1:161276509-161276512 1:161306719-161306722 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.298C>T (p.Gln100Ter) SNV Pathogenic 531678 rs1553259683 1:161276648-161276648 1:161306858-161306858 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.152C>T (p.Ser51Phe) SNV Pathogenic 531693 rs1553259790 1:161277130-161277130 1:161307340-161307340 CHR071 Charcot-Marie-Tooth Disease NTRK1 NM_002529.3(NTRK1):c.638T>C (p.Leu213Pro) SNV Pathogenic 526734 rs747711259 1:156838360-156838360 1:156868568-156868568 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) SNV Pathogenic 533814 rs557327165 7:75932145-75932145 7:76302828-76302828 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.404C>A (p.Ser135Tyr) SNV Pathogenic 533813 rs28939680 7:75933158-75933158 7:76303841-76303841 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter) SNV Pathogenic 535790 rs1554547986 8:75274205-75274205 8:74361970-74361970 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.8G>A (p.Trp3Ter) SNV Pathogenic 543927 rs1555936989 X:70443565-70443565 X:71223715-71223715 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.491G>A (p.Arg164Gln) SNV Pathogenic 543920 rs1241595912 X:70444048-70444048 X:71224198-71224198 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) SNV Pathogenic 549681 rs1553259707 1:161276701-161276701 1:161306911-161306911 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1708C>T (p.Arg570Ter) SNV Pathogenic 561032 rs1000091588 11:68702842-68702842 11:68935374-68935374 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.638T>C (p.Ile213Thr) SNV Pathogenic 575481 rs1557524703 1:12058865-12058865 1:11998808-11998808 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.302G>A (p.Trp101Ter) SNV Pathogenic 570159 rs1017715903 1:161276644-161276644 1:161306854-161306854 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3596G>A (p.Trp1199Ter) SNV Pathogenic 579413 rs761972717 5:148386523-148386523 5:149006960-149006960 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.776G>A (p.Arg259His) SNV Pathogenic 577496 rs755065651 1:12059112-12059112 1:11999055-11999055 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.2251C>T (p.Gln751Ter) SNV Pathogenic 572169 rs1557539119 1:12071599-12071599 1:12011542-12011542 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1091G>C (p.Arg364Pro) SNV Pathogenic 572157 rs879254011 1:12062091-12062091 1:12002034-12002034 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.100A>G (p.Met34Val) SNV Pathogenic 565409 rs1569215061 X:70443657-70443657 X:71223807-71223807 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.524dup (p.Asn175fs) duplication Pathogenic 567945 rs1569215346 X:70444079-70444080 X:71224229-71224230 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.433del (p.Leu145fs) deletion Pathogenic 586346 rs1567698872 17:15134284-15134284 17:15230967-15230967 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.767A>G (p.His256Arg) SNV Pathogenic 618662 rs1476856429 8:75276292-75276292 8:74364057-74364057 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.307C>T (p.Gln103Ter) SNV Pathogenic 618333 rs1567704621 17:15142800-15142800 17:15239483-15239483 CHR071 Charcot-Marie-Tooth Disease NTRK1 NM_002529.3(NTRK1):c.1804C>T (p.Arg602Ter) SNV Pathogenic 620139 rs763758904 1:156846363-156846363 1:156876571-156876571 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.633C>A (p.Tyr211Ter) SNV Pathogenic 620115 rs1569215443 X:70444190-70444190 X:71224340-71224340 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.280C>G (p.Arg94Gly) SNV Pathogenic 637495 1:12052716-12052716 1:11992659-11992659 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.776G>T (p.Arg259Leu) SNV Pathogenic 637279 1:12059112-12059112 1:11999055-11999055 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.2037C>G (p.Tyr679Ter) SNV Pathogenic 637064 1:12067274-12067274 1:12007217-12007217 CHR071 Charcot-Marie-Tooth Disease NTRK1 NM_002529.3(NTRK1):c.543del (p.Leu183fs) deletion Pathogenic 637814 1:156838008-156838008 1:156868216-156868216 CHR071 Charcot-Marie-Tooth Disease NTRK1 NM_002529.3(NTRK1):c.2303C>T (p.Pro768Leu) SNV Pathogenic 637485 1:156851346-156851346 1:156881554-156881554 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.681A>T (p.Arg227Ser) SNV Pathogenic 637330 1:161275732-161275732 1:161305942-161305942 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.275T>C (p.Leu92Pro) SNV Pathogenic 637730 1:12052711-12052711 1:11992654-11992654 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.572_573AG[1] (p.Arg192fs) short repeat Pathogenic 637320 1:161276128-161276129 1:161306338-161306339 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.560del (p.Gln187fs) deletion Pathogenic 637770 1:161276143-161276143 1:161306353-161306353 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.296T>C (p.Ile99Thr) SNV Pathogenic 637349 1:161276650-161276650 1:161306860-161306860 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.197G>A (p.Trp66Ter) SNV Pathogenic 637507 1:161277085-161277085 1:161307295-161307295 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.130_137del (p.Ser44fs) deletion Pathogenic 637764 1:161277145-161277152 1:161307355-161307362 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.1A>G (p.Met1Val) SNV Pathogenic 637506 1:161279695-161279695 1:161309905-161309905 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.204C>A (p.Tyr68Ter) SNV Pathogenic 637508 1:161277078-161277078 1:161307288-161307288 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.316C>T (p.Arg106Cys) SNV Pathogenic 637797 1:161276630-161276630 1:161306840-161306840 CHR071 Charcot-Marie-Tooth Disease HINT1 NM_005340.7(HINT1):c.316C>T (p.Gln106Ter) SNV Pathogenic 637252 5:130495205-130495205 5:131159512-131159512 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.2989del (p.Arg997fs) deletion Pathogenic 637410 5:148406199-148406199 5:149026636-149026636 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.688del (p.Val230fs) deletion Pathogenic 637409 5:148421022-148421022 5:149041459-149041459 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.2299dup (p.Glu767fs) duplication Pathogenic 637500 6:110112694-110112695 6:109791491-109791492 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.171_172insGCGCCCT (p.Leu58fs) insertion Pathogenic 637505 7:75932200-75932201 7:76302883-76302884 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1378C>T (p.Gln460Ter) SNV Pathogenic 637510 5:148407917-148407917 5:149028354-149028354 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.505del (p.Met169fs) deletion Pathogenic 637259 7:75933377-75933377 7:76304060-76304060 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.116del (p.Lys39fs) deletion Pathogenic 637504 8:75262809-75262809 8:74350574-74350574 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.349dup (p.Tyr117fs) duplication Pathogenic 637122 8:75272409-75272410 8:74360174-74360175 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.928del (p.Arg310fs) deletion Pathogenic 637555 8:75276452-75276452 8:74364217-74364217 CHR071 Charcot-Marie-Tooth Disease EGR2 NM_000399.5(EGR2):c.1141C>T (p.Arg381Cys) SNV Pathogenic 637524 10:64573257-64573257 10:62813497-62813497 CHR071 Charcot-Marie-Tooth Disease SPTLC2 NM_004863.3(SPTLC2):c.1151C>T (p.Ser384Phe) SNV Pathogenic 637418 14:78021668-78021668 14:77555325-77555325 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.1A>T (p.Met1Leu) SNV Pathogenic 637503 8:75262697-75262697 8:74350462-74350462 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.256C>T (p.Gln86Ter) SNV Pathogenic 637389 17:15142851-15142851 17:15239534-15239534 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.76del (p.Ser26fs) deletion Pathogenic 637827 17:15163969-15163969 17:15260652-15260652 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.320G>T (p.Gly107Val) SNV Pathogenic 637376 17:15134397-15134397 17:15231080-15231080 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.124_125dup (p.Phe43fs) duplication Pathogenic 637392 19:40909671-40909672 19:40403764-40403765 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.1173del (p.Arg392fs) deletion Pathogenic 637391 19:40903086-40903086 19:40397179-40397179 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*1295C>T SNV Pathogenic 637398 19:40903169-40903169 19:40397262-40397262 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*2069C>T SNV Pathogenic 637509 19:40902395-40902395 19:40396488-40396488 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.68T>C (p.Val23Ala) SNV Pathogenic 637585 X:70443625-70443625 X:71223775-71223775 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.89T>C (p.Ile30Thr) SNV Pathogenic 637215 X:70443646-70443646 X:71223796-71223796 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.119C>T (p.Ala40Val) SNV Pathogenic 637200 X:70443676-70443676 X:71223826-71223826 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.120_121AG[2] (p.Ser42fs) short repeat Pathogenic 637569 X:70443677-70443678 X:71223827-71223828 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.191G>A (p.Cys64Tyr) SNV Pathogenic 637608 X:70443748-70443748 X:71223898-71223898 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.238C>A (p.Gln80Lys) SNV Pathogenic 637563 X:70443795-70443795 X:71223945-71223945 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.238C>T (p.Gln80Ter) SNV Pathogenic 637135 X:70443795-70443795 X:71223945-71223945 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.281A>G (p.His94Arg) SNV Pathogenic 637565 X:70443838-70443838 X:71223988-71223988 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.381C>G (p.Ile127Met) SNV Pathogenic 637216 X:70443938-70443938 X:71224088-71224088 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.576del (p.Phe193fs) deletion Pathogenic 637162 X:70444133-70444133 X:71224283-71224283 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.556dup (p.Glu186fs) duplication Pathogenic 637173 X:70444112-70444113 X:71224262-71224263 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.629_632del (p.Val210fs) deletion Pathogenic 637163 X:70444186-70444189 X:71224336-71224339 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.785_786del (p.Ile262fs) deletion Pathogenic 637234 X:70444341-70444342 X:71224491-71224492 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.800del (p.Pro267fs) deletion Pathogenic 637165 X:70444355-70444355 X:71224505-71224505 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.822del (p.Glu275fs) deletion Pathogenic 637166 X:70444379-70444379 X:71224529-71224529 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.844dup (p.Ala282fs) duplication Pathogenic 637167 X:70444399-70444400 X:71224549-71224550 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1392+1G>A SNV Pathogenic 637063 1:12064671-12064671 1:12004614-12004614 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.68-5_71del deletion Pathogenic 637769 1:161277211-161277219 1:161307421-161307429 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1031+1G>A SNV Pathogenic 637502 7:30651862-30651862 7:30612246-30612246 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1809+1G>A SNV Pathogenic 637501 7:30668286-30668286 7:30628670-30628670 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.179-2A>G SNV Pathogenic 637829 17:15142930-15142930 17:15239613-15239613 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.1815del (p.Asp607fs) deletion Pathogenic 859441 9:130258359-130258359 9:127496080-127496080 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.198_199GC[1] (p.Arg67fs) short repeat Pathogenic 917144 1:161277081-161277082 1:161307291-161307292 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.2487_2488AG[1] (p.Glu830fs) short repeat Pathogenic 916840 5:148406803-148406806 5:149027240-149027243 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.2095C>T (p.Gln699Ter) SNV Pathogenic 916841 5:148407200-148407200 5:149027637-149027637 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.1801del (p.Thr601fs) deletion Pathogenic 916867 6:110098175-110098175 6:109776972-109776972 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.2247dup (p.Ser750fs) duplication Pathogenic 916868 6:110112639-110112640 6:109791436-109791437 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.153G>A (p.Trp51Ter) SNV Pathogenic 917325 7:75932182-75932182 7:76302865-76302865 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.1039_1040del (p.Met347fs) deletion Pathogenic 916802 8:24812990-24812991 8:24955476-24955477 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.124_125insGCTGC (p.Ile42fs) insertion Pathogenic 916817 19:40909672-40909673 19:40403765-40403766 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.121_122insAAGCTGCGCGAG (p.Gly41_Ile42insGluAlaAlaArg) insertion Pathogenic 916818 19:40909675-40909676 19:40403768-40403769 CHR071 Charcot-Marie-Tooth Disease RETREG1 NM_001034850.2(RETREG1):c.926C>G (p.Ser309Ter) SNV Pathogenic 328 rs137852739 5:16477845-16477845 5:16477736-16477736 CHR071 Charcot-Marie-Tooth Disease RETREG1 NM_001034850.2(RETREG1):c.433C>T (p.Gln145Ter) SNV Pathogenic 330 rs137852737 5:16565897-16565897 5:16565788-16565788 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.281G>A (p.Arg94Gln) SNV Pathogenic 2268 rs28940291 1:12052717-12052717 1:11992660-11992660 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.2219G>C (p.Trp740Ser) SNV Pathogenic 2269 rs28940292 1:12071567-12071567 1:12011510-12011510 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.839G>A (p.Arg280His) SNV Pathogenic 2271 rs28940294 1:12061480-12061480 1:12001423-12001423 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.751C>G (p.Pro251Ala) SNV Pathogenic 2272 rs28940295 1:12059087-12059087 1:11999030-11999030 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.280C>T (p.Arg94Trp) SNV Pathogenic 2276 rs119103263 1:12052716-12052716 1:11992659-11992659 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1090C>T (p.Arg364Trp) SNV Pathogenic 2278 rs119103265 1:12062090-12062090 1:12002033-12002033 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.310C>T (p.Arg104Trp) SNV Pathogenic 2281 rs119103268 1:12052746-12052746 1:11992689-11992689 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) SNV Pathogenic 2483 rs80338934 5:148389835-148389835 5:149010272-149010272 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.1459C>T (p.Arg487Ter) SNV Pathogenic 2912 rs120074139 11:9990029-9990029 11:9968482-9968482 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) SNV Pathogenic 4193 rs104894077 8:75274121-75274121 8:74361886-74361886 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) SNV Pathogenic 4198 rs104894078 8:75272419-75272419 8:74360184-74360184 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) SNV Pathogenic 4200 rs104894080 8:75276240-75276240 8:74364005-74364005 CHR071 Charcot-Marie-Tooth Disease HSPB8 NM_014365.2(HSPB8):c.423G>C (p.Lys141Asn) SNV Pathogenic 2617 rs104894345 12:119624885-119624885 12:119187080-119187080 CHR071 Charcot-Marie-Tooth Disease HSPB8 NM_014365.2(HSPB8):c.421A>G (p.Lys141Glu) SNV Pathogenic 2618 rs104894351 12:119624883-119624883 12:119187078-119187078 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.293A>T (p.Gln98Leu) SNV Pathogenic 4658 rs121908160 1:10318660-10318660 1:10258602-10258602 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*2350T>A SNV Pathogenic 4792 rs104894707 19:40902114-40902114 19:40396207-40396207 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.398G>A (p.Cys133Tyr) SNV Pathogenic 4800 rs119482081 9:94842327-94842327 9:92080045-92080045 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.399T>G (p.Cys133Trp) SNV Pathogenic 4803 rs119482082 9:94842326-94842326 9:92080044-92080044 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) SNV Pathogenic 4787 rs104894714 19:40901402-40901402 19:40395495-40395495 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.946C>T (p.Arg316Cys) SNV Pathogenic 5001 rs267607145 12:110236625-110236625 12:109798820-109798820 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.805C>T (p.Arg269Cys) SNV Pathogenic 5002 rs267607146 12:110238471-110238471 12:109800666-109800666 CHR071 Charcot-Marie-Tooth Disease CTDP1 NM_004715.4(CTDP1):c.863+389C>T SNV Pathogenic 5301 rs113994102 18:77470825-77470825 18:79710825-79710825 CHR071 Charcot-Marie-Tooth Disease LITAF NM_001136473.1(LITAF):c.334G>A (p.Gly112Ser) SNV Pathogenic 6057 rs104894519 16:11647432-11647432 16:11553576-11553576 CHR071 Charcot-Marie-Tooth Disease ELP1 NM_003640.5(ELP1):c.2204+6T>C SNV Pathogenic 6085 rs111033171 9:111662096-111662096 9:108899816-108899816 CHR071 Charcot-Marie-Tooth Disease YARS1 NM_003680.3(YARS1):c.586G>A (p.Glu196Lys) SNV Pathogenic 6189 rs121908834 1:33263369-33263369 1:32797768-32797768 CHR071 Charcot-Marie-Tooth Disease DNM2 NM_001005360.2(DNM2):c.1105C>T (p.Arg369Trp) SNV Pathogenic 7280 rs121909090 19:10904508-10904508 19:10793832-10793832 CHR071 Charcot-Marie-Tooth Disease RAB7A NM_004637.5(RAB7A):c.385C>T (p.Leu129Phe) SNV Pathogenic 7345 rs121909078 3:128525419-128525419 3:128806576-128806576 CHR071 Charcot-Marie-Tooth Disease RAB7A NM_004637.5(RAB7A):c.484G>A (p.Val162Met) SNV Pathogenic 7346 rs121909079 3:128526470-128526470 3:128807627-128807627 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly) SNV Pathogenic 7484 rs121909112 7:75933172-75933172 7:76303855-76303855 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.880G>C (p.Gly294Arg) SNV Pathogenic 9204 rs137852643 7:30649345-30649345 7:30609729-30609729 CHR071 Charcot-Marie-Tooth Disease ATP6 NC_012920.1:m.9185T>C SNV Pathogenic 9647 rs199476138 MT:9185-9185 MT:9185-9185 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.415G>A (p.Val139Met) SNV Pathogenic 10433 rs104894812 X:70443972-70443972 X:71224122-71224122 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.283G>A (p.Val95Met) SNV Pathogenic 10441 rs104894821 X:70443840-70443840 X:71223990-71223990 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.164C>T (p.Thr55Ile) SNV Pathogenic 10446 rs104894824 X:70443721-70443721 X:71223871-71223871 CHR071 Charcot-Marie-Tooth Disease TTR NM_000371.4(TTR):c.148G>A (p.Val50Met) SNV Pathogenic 13417 rs28933979 18:29172937-29172937 18:31592974-31592974 CHR071 Charcot-Marie-Tooth Disease TTR NM_000371.4(TTR):c.238A>G (p.Thr80Ala) SNV Pathogenic 13421 rs121918070 18:29175120-29175120 18:31595157-31595157 CHR071 Charcot-Marie-Tooth Disease TTR NM_000371.3(TTR):c.290C>A (p.Ser97Tyr) SNV Pathogenic 13422 rs121918071 18:29175172-29175172 18:31595209-31595209 CHR071 Charcot-Marie-Tooth Disease AARS1 NM_001605.3(AARS1):c.986G>A (p.Arg329His) SNV Pathogenic 8466 rs267606621 16:70302259-70302259 16:70268356-70268356 CHR071 Charcot-Marie-Tooth Disease TTR NM_000371.3(TTR):c.148G>C (p.Val50Leu) SNV Pathogenic 13440 rs28933979 18:29172937-29172937 18:31592974-31592974 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.286A>G (p.Lys96Glu) SNV Pathogenic 14166 rs121913583 1:161276660-161276660 1:161306870-161306870 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.270C>A (p.Asp90Glu) SNV Pathogenic 14167 rs121913584 1:161276676-161276676 1:161306886-161306886 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.293G>C (p.Arg98Pro) SNV Pathogenic 14174 rs121913589 1:161276653-161276653 1:161306863-161306863 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.242A>G (p.His81Arg) SNV Pathogenic 14179 rs121913594 1:161276704-161276704 1:161306914-161306914 CHR071 Charcot-Marie-Tooth Disease SLC12A6 NM_001365088.1(SLC12A6):c.1118+1G>A SNV Pathogenic/Likely pathogenic 370139 rs762730861 15:34546548-34546548 15:34254347-34254347 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.239A>G (p.Gln80Arg) SNV Pathogenic/Likely pathogenic 246096 rs879254097 X:70443796-70443796 X:71223946-71223946 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys) SNV Pathogenic/Likely pathogenic 245997 rs879254038 1:161276590-161276590 1:161306800-161306800 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.208C>G (p.Pro70Ala) SNV Pathogenic/Likely pathogenic 237122 rs878853697 X:70443765-70443765 X:71223915-71223915 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.138del (p.Ser47fs) deletion Pathogenic/Likely pathogenic 219616 rs864622180 17:15162451-15162451 17:15259134-15259134 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1488C>A (p.Cys496Ter) SNV Pathogenic/Likely pathogenic 234316 rs145226920 11:68701332-68701332 11:68933864-68933864 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.978_982AAGAA[1] (p.Lys328fs) short repeat Pathogenic/Likely pathogenic 217449 rs746581714 11:68685269-68685273 11:68917801-68917805 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.707C>T (p.Thr236Met) SNV Pathogenic/Likely pathogenic 217165 rs773159585 1:12058934-12058934 1:11998877-11998877 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) SNV Pathogenic/Likely pathogenic 217230 rs863225022 7:75933161-75933161 7:76303844-76303844 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.523C>T (p.Gln175Ter) SNV Pathogenic/Likely pathogenic 217231 rs863225023 7:75933395-75933395 7:76304078-76304078 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.547C>T (p.Arg183Cys) SNV Pathogenic/Likely pathogenic 216039 rs863224471 X:70444104-70444104 X:71224254-71224254 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.83T>A (p.Ile28Asn) SNV Pathogenic/Likely pathogenic 215983 rs768834663 X:70443640-70443640 X:71223790-71223790 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.449+1G>T SNV Pathogenic/Likely pathogenic 204303 rs797044802 11:68675806-68675806 11:68908338-68908338 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.314C>T (p.Pro105Leu) SNV Pathogenic/Likely pathogenic 188325 rs786204215 1:161276632-161276632 1:161306842-161306842 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.182A>G (p.Asp61Gly) SNV Pathogenic/Likely pathogenic 188168 rs786204119 1:161277100-161277100 1:161307310-161307310 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.2909_2910AG[1] (p.Arg971fs) short repeat Pathogenic/Likely pathogenic 162195 rs724159994 11:68707126-68707127 11:68939658-68939659 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu) SNV Pathogenic/Likely pathogenic 157529 rs587781250 7:75933134-75933134 7:76303817-76303817 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.775C>T (p.Arg259Cys) SNV Pathogenic/Likely pathogenic 155730 rs587777875 1:12059111-12059111 1:11999054-11999054 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1609-3C>G SNV Pathogenic/Likely pathogenic 66856 rs267607581 1:156107442-156107442 1:156137651-156137651 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) SNV Pathogenic/Likely pathogenic 41022 rs281865128 1:161276216-161276216 1:161306426-161306426 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.947G>A (p.Arg316His) SNV Pathogenic/Likely pathogenic 30473 rs387906905 12:110236624-110236624 12:109798819-109798819 CHR071 Charcot-Marie-Tooth Disease DNMT1 NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) SNV Pathogenic/Likely pathogenic 29682 rs199473690 19:10265693-10265693 19:10155017-10155017 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys) SNV Pathogenic/Likely pathogenic 21690 rs80338926 5:148407323-148407323 5:149027760-149027760 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr) SNV Pathogenic/Likely pathogenic 14183 rs121913596 1:161277179-161277179 1:161307389-161307389 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.293G>A (p.Arg98His) SNV Pathogenic/Likely pathogenic 14176 rs121913589 1:161276653-161276653 1:161306863-161306863 CHR071 Charcot-Marie-Tooth Disease BAG3 NM_004281.3(BAG3):c.626C>T (p.Pro209Leu) SNV Pathogenic/Likely pathogenic 5981 rs121918312 10:121431885-121431885 10:119672373-119672373 CHR071 Charcot-Marie-Tooth Disease TTR NM_000371.4(TTR):c.424G>A (p.Val142Ile) SNV Pathogenic/Likely pathogenic 13426 rs76992529 18:29178618-29178618 18:31598655-31598655 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.281dup (p.Arg95fs) duplication Pathogenic/Likely pathogenic 8437 rs80338763 17:15142825-15142826 17:15239508-15239509 CHR071 Charcot-Marie-Tooth Disease ELP1 NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) SNV Pathogenic/Likely pathogenic 6086 rs137853022 9:111662583-111662583 9:108900303-108900303 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) SNV Pathogenic/Likely pathogenic 2482 rs80338933 5:148406435-148406435 5:149026872-149026872 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.1858G>A (p.Val620Ile) SNV Pathogenic/Likely pathogenic 4993 rs121912633 12:110230201-110230201 12:109792396-109792396 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.943C>T (p.Arg315Trp) SNV Pathogenic/Likely pathogenic 4999 rs267607143 12:110236628-110236628 12:109798823-109798823 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.806G>A (p.Arg269His) SNV Pathogenic/Likely pathogenic 5000 rs267607144 12:110238470-110238470 12:109800665-109800665 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) SNV Pathogenic/Likely pathogenic 4801 rs119482083 9:94830377-94830377 9:92068095-92068095 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) SNV Pathogenic/Likely pathogenic 4202 rs121908114 8:75275286-75275286 8:74363051-74363051 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) SNV Pathogenic/Likely pathogenic 2280 rs119103267 1:12069698-12069698 1:12009641-12009641 CHR071 Charcot-Marie-Tooth Disease TTR NM_000371.4(TTR):c.252T>G (p.Phe84Leu) SNV Pathogenic/Likely pathogenic 845368 18:29175134-29175134 18:31595171-31595171 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.2019dup (p.Glu674fs) duplication Pathogenic/Likely pathogenic 651567 9:130263394-130263395 9:127501115-127501116 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.420G>A (p.Trp140Ter) SNV Pathogenic/Likely pathogenic 648604 17:15134297-15134297 17:15230980-15230980 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.165_177dup (p.Gln60fs) duplication Pathogenic/Likely pathogenic 649369 19:40909619-40909620 19:40403712-40403713 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.303G>A (p.Trp101Ter) SNV Pathogenic/Likely pathogenic 586153 rs1558154149 1:161276643-161276643 1:161306853-161306853 CHR071 Charcot-Marie-Tooth Disease PLD3 NM_181882.3(PRX):c.3198del (p.Phe1066fs) deletion Pathogenic/Likely pathogenic 637402 19:40901061-40901061 19:40395154-40395154 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.3198del (p.Phe1066fs) deletion Pathogenic/Likely pathogenic 637402 19:40901061-40901061 19:40395154-40395154 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.486del (p.Ile162fs) deletion Pathogenic/Likely pathogenic 625199 1:161276217-161276217 1:161306427-161306427 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter) SNV Pathogenic/Likely pathogenic 569560 rs761035569 8:75262808-75262808 8:74350573-74350573 CHR071 Charcot-Marie-Tooth Disease INF2 NM_022489.4(INF2):c.658G>A (p.Glu220Lys) SNV Pathogenic/Likely pathogenic 523533 rs530391015 14:105169782-105169782 14:104703445-104703445 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) SNV Pathogenic/Likely pathogenic 447730 rs572010627 1:161276528-161276528 1:161306738-161306738 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) SNV Pathogenic/Likely pathogenic 406135 rs538412810 8:75272519-75272519 8:74360284-74360284 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) SNV Pathogenic/Likely pathogenic 406228 rs1060501002 X:70443622-70443622 X:71223772-71223772 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.786del (p.Phe263fs) deletion Pathogenic/Likely pathogenic 406136 rs1060500978 8:75276308-75276308 8:74364073-74364073 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.276G>A (p.Val92=) SNV Likely pathogenic 14200 rs1558154193 1:161276670-161276670 1:161306880-161306880 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr) SNV Likely pathogenic 21085 rs116840822 X:70444093-70444093 X:71224243-71224243 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.382G>A (p.Asp128Asn) SNV Likely pathogenic 242747 rs267607243 1:161276564-161276564 1:161306774-161306774 CHR071 Charcot-Marie-Tooth Disease SLC12A6 NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter) SNV Likely pathogenic 30440 rs606231229 15:34526135-34526135 15:34233934-34233934 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1085C>T (p.Thr362Met) SNV Likely pathogenic 30738 rs387906991 1:12062085-12062085 1:12002028-12002028 CHR071 Charcot-Marie-Tooth Disease DNM2 NM_001005361.2(DNM2):c.1241A>G (p.Lys414Arg) SNV Likely pathogenic 157522 rs199927590 19:10908100-10908100 19:10797424-10797424 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.1700G>A (p.Arg567His) SNV Likely pathogenic 157534 rs587781253 14:102452262-102452262 14:101985925-101985925 CHR071 Charcot-Marie-Tooth Disease DNAJB2 NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys) SNV Likely pathogenic 183042 rs730882140 2:220144569-220144569 2:219279847-219279847 CHR071 Charcot-Marie-Tooth Disease LAMA2 deletion Likely pathogenic 190034 6:129040519-129222690 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.419C>G (p.Ser140Cys) SNV Likely pathogenic 215993 rs863224449 1:161276527-161276527 1:161306737-161306737 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.372G>C (p.Lys124Asn) SNV Likely pathogenic 234611 rs876661119 X:70443929-70443929 X:71224079-71224079 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.376C>T (p.His126Tyr) SNV Likely pathogenic 245904 rs879253995 X:70443933-70443933 X:71224083-71224083 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.132G>C (p.Trp44Cys) SNV Likely pathogenic 245761 rs879253935 X:70443689-70443689 X:71223839-71223839 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.83T>C (p.Ile28Thr) SNV Likely pathogenic 246094 rs768834663 X:70443640-70443640 X:71223790-71223790 CHR071 Charcot-Marie-Tooth Disease MORC2 NM_001303256.3(MORC2):c.707A>G (p.Glu236Gly) SNV Likely pathogenic 254251 rs886037934 22:31337537-31337537 22:30941550-30941550 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1252C>T (p.Arg418Ter) SNV Likely pathogenic 372790 rs1057517987 1:12064140-12064140 1:12004083-12004083 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.958C>T (p.Arg320Ter) SNV Likely pathogenic 374169 rs773690764 11:68685249-68685249 11:68917781-68917781 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.325G>A (p.Asp109Asn) SNV Likely pathogenic 411668 rs1060503420 1:161276621-161276621 1:161306831-161306831 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.830A>G (p.His277Arg) SNV Likely pathogenic 420143 rs1064794316 1:12061471-12061471 1:12001414-12001414 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1078C>G (p.Gln360Glu) SNV Likely pathogenic 422500 rs1064795818 1:12062078-12062078 1:12002021-12002021 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys) SNV Likely pathogenic 430459 rs121913603 1:161276512-161276512 1:161306722-161306722 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.106A>G (p.Arg36Gly) SNV Likely pathogenic 420151 rs864622732 1:161277176-161277176 1:161307386-161307386 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.50C>G (p.Ser17Cys) SNV Likely pathogenic 444867 rs1555937009 X:70443607-70443607 X:71223757-71223757 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.307A>G (p.Lys103Glu) SNV Likely pathogenic 429329 rs1131691322 X:70443864-70443864 X:71224014-71224014 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.335T>C (p.Ile112Thr) SNV Likely pathogenic 462795 rs1553259662 1:161276611-161276611 1:161306821-161306821 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.423C>G (p.Phe141Leu) SNV Likely pathogenic 449355 rs1555937180 X:70443980-70443980 X:71224130-71224130 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.400G>A (p.Asp134Asn) SNV Likely pathogenic 449536 rs1553259647 1:161276546-161276546 1:161306756-161306756 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.332C>G (p.Ser111Cys) SNV Likely pathogenic 449538 rs1553259663 1:161276614-161276614 1:161306824-161306824 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter) SNV Likely pathogenic 447336 rs745790694 6:110117975-110117975 6:109796772-109796772 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.1239_1241inv (p.Tyr413_Ile414delinsTer) inversion Likely pathogenic 523914 rs1554303811 6:110081554-110081556 6:109760351-109760353 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.34G>A (p.Gly12Ser) SNV Likely pathogenic 477595 rs1555936999 X:70443591-70443591 X:71223741-71223741 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.324dup (p.Glu109Ter) duplication Likely pathogenic 503687 rs1555937143 X:70443879-70443880 X:71224029-71224030 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.794C>T (p.Ser265Phe) SNV Likely pathogenic 476762 rs1554337974 7:30649259-30649259 7:30609643-30609643 CHR071 Charcot-Marie-Tooth Disease BSCL2 NM_032667.6(BSCL2):c.269C>G (p.Ser90Trp) SNV Likely pathogenic 476810 rs137852973 11:62469965-62469965 11:62702493-62702493 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.752C>G (p.Pro251Arg) SNV Likely pathogenic 577604 rs1557525153 1:12059088-12059088 1:11999031-11999031 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.2171T>C (p.Leu724Pro) SNV Likely pathogenic 573744 rs1557537346 1:12069750-12069750 1:12009693-12009693 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.529G>A (p.Val177Met) SNV Likely pathogenic 570878 rs1569215351 X:70444086-70444086 X:71224236-71224236 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.392T>C (p.Leu131Pro) SNV Likely pathogenic 576347 rs1555937166 X:70443949-70443949 X:71224099-71224099 CHR071 Charcot-Marie-Tooth Disease NTRK1 NM_002529.3(NTRK1):c.253C>A (p.Arg85Ser) SNV Likely pathogenic 584593 rs543320028 1:156834186-156834186 1:156864394-156864394 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1144G>C (p.Ala382Pro) SNV Likely pathogenic 543189 rs1553144066 1:12062144-12062144 1:12002087-12002087 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.179G>A (p.Cys60Tyr) SNV Likely pathogenic 543917 rs1555937082 X:70443736-70443736 X:71223886-71223886 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter) SNV Likely pathogenic 637781 1:161276511-161276511 1:161306721-161306721 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg) SNV Likely pathogenic 632006 rs770272088 7:75932279-75932279 7:76302962-76302962 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.221A>G (p.Gln74Arg) SNV Likely pathogenic 637311 1:12052657-12052657 1:11992600-11992600 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.73C>T (p.Leu25Phe) SNV Likely pathogenic 637201 X:70443630-70443630 X:71223780-71223780 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.392C>G (p.Ser131Cys) SNV Likely pathogenic 637835 17:15134325-15134325 17:15231008-15231008 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.598G>A (p.Asp200Asn) SNV Likely pathogenic 637545 7:30642678-30642678 7:30603062-30603062 CHR071 Charcot-Marie-Tooth Disease NTRK1 NM_002529.3(NTRK1):c.354_359+3del deletion Likely pathogenic 637368 1:156834585-156834593 1:156864793-156864801 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.772del (p.Ser258fs) deletion Likely pathogenic 637164 X:70444329-70444329 X:71224479-71224479 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.610C>G (p.Leu204Val) SNV Likely pathogenic 637576 X:70444167-70444167 X:71224317-71224317 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.538T>C (p.Phe180Leu) SNV Likely pathogenic 637881 X:70444095-70444095 X:71224245-71224245 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.479A>G (p.Tyr160Cys) SNV Likely pathogenic 637566 X:70444036-70444036 X:71224186-71224186 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.3873C>G (p.Tyr1291Ter) SNV Likely pathogenic 694913 19:40900386-40900386 19:40394479-40394479 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.541G>T (p.Glu181Ter) SNV Likely pathogenic 916803 8:24813489-24813489 8:24955975-24955975 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.999_1004delinsTGTCG (p.Gln334fs) indel Likely pathogenic 916804 8:24813026-24813031 8:24955512-24955517 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.993_994insT (p.Gln332fs) insertion Likely pathogenic 916805 8:24813036-24813037 8:24955522-24955523 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.822_850dup (p.Lys284delinsArgProTer) duplication Likely pathogenic 916949 5:148418008-148418009 5:149038445-149038446 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.2551_2554dup (p.Val852fs) duplication Likely pathogenic 916842 5:148406740-148406741 5:149027177-149027178 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.549G>A (p.Trp183Ter) SNV Likely pathogenic 917145 1:161276154-161276154 1:161306364-161306364 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.122_124delinsAAGCTGCGCGAGGAAGCTGC (p.Gly41fs) indel Likely pathogenic 916820 19:40909673-40909675 19:40403766-40403768 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.122del (p.Gly41fs) deletion Likely pathogenic 916821 19:40909675-40909675 19:40403768-40403768 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.2T>C (p.Met1Thr) SNV Likely pathogenic 916822 19:40913838-40913838 19:40407931-40407931 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.72G>C (p.Trp24Cys) SNV Likely pathogenic 917092 X:70443629-70443629 X:71223779-71223779 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.109G>C (p.Val37Leu) SNV Likely pathogenic 917093 X:70443666-70443666 X:71223816-71223816 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.255C>A (p.Cys85Ter) SNV Likely pathogenic 917225 17:15142852-15142852 17:15239535-15239535 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.170C>G (p.Ser57Ter) SNV Likely pathogenic 917224 17:15162419-15162419 17:15259102-15259102 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.4003C>T (p.Arg1335Ter) SNV Likely pathogenic 916819 19:40900256-40900256 19:40394349-40394349 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.272_274delinsTTT (p.Thr91_Gln92delinsIleTer) indel Likely pathogenic 917000 8:75263663-75263665 8:74351428-74351430 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.1016dup (p.Gln340fs) duplication Likely pathogenic 917119 9:130242229-130242230 9:127479950-127479951 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.2008del (p.Val670fs) deletion Likely pathogenic 917118 9:130263383-130263383 9:127501104-127501104 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.1846C>T (p.Arg616Ter) SNV Likely pathogenic 916858 12:110230213-110230213 12:109792408-109792408 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.199G>A (p.Ala67Thr) SNV Likely pathogenic 8443 rs104894623 17:15142908-15142908 17:15239591-15239591 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1738G>A (p.Val580Ile) SNV Likely pathogenic 9114 rs137852667 11:68702872-68702872 11:68935404-68935404 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.188C>T (p.Ser63Phe) SNV Likely pathogenic 14177 rs121913585 1:161277094-161277094 1:161307304-161307304 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.448+2T>G SNV Likely pathogenic 917146 1:161276496-161276496 1:161306706-161306706 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.750+2T>G SNV Likely pathogenic 917117 9:130236212-130236212 9:127473933-127473933 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.904-2A>G SNV Likely pathogenic 917120 9:130242116-130242116 9:127479837-127479837 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.1061-1G>C SNV Likely pathogenic 917009 11:68696650-68696650 11:68929182-68929182 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.1395+1G>A SNV Likely pathogenic 916834 11:10011043-10011043 11:9989496-9989496 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.4(MED25):c.135-1G>A SNV Likely pathogenic 917360 19:50321827-50321827 19:49818570-49818570 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.109G>T (p.Val37Leu) SNV Conflicting interpretations of pathogenicity 374173 rs1057518946 X:70443666-70443666 X:71223816-71223816 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.751C>T (p.Pro251Ser) SNV Conflicting interpretations of pathogenicity 374659 rs144963732 5:148420221-148420221 5:149040658-149040658 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*802C>T SNV Conflicting interpretations of pathogenicity 329283 rs144157275 19:40903662-40903662 19:40397755-40397755 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*1705A>G SNV Conflicting interpretations of pathogenicity 329276 rs777104457 19:40902759-40902759 19:40396852-40396852 CHR071 Charcot-Marie-Tooth Disease LITAF NM_001136473.1(LITAF):c.44C>T (p.Ser15Leu) SNV Conflicting interpretations of pathogenicity 317789 rs138041990 16:11650543-11650543 16:11556687-11556687 CHR071 Charcot-Marie-Tooth Disease AARS1 NM_001605.2(AARS1):c.2732A>G (p.Asn911Ser) SNV Conflicting interpretations of pathogenicity 320324 rs746822330 16:70286799-70286799 16:70252896-70252896 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.-20A>C SNV Conflicting interpretations of pathogenicity 329291 rs780315081 19:40913859-40913859 19:40407952-40407952 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.1377C>T (p.Thr459=) SNV Conflicting interpretations of pathogenicity 329883 rs374928221 19:50335567-50335567 19:49832310-49832310 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1422C>A (p.Asp474Glu) SNV Conflicting interpretations of pathogenicity 305846 rs61731907 11:68701266-68701266 11:68933798-68933798 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2532G>T (p.Ala844=) SNV Conflicting interpretations of pathogenicity 305856 rs2228207 11:68704480-68704480 11:68937012-68937012 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2612-15G>A SNV Conflicting interpretations of pathogenicity 305857 rs372230504 11:68705635-68705635 11:68938167-68938167 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.*6C>T SNV Conflicting interpretations of pathogenicity 305866 rs117995705 11:68707205-68707205 11:68939737-68939737 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=) SNV Conflicting interpretations of pathogenicity 312638 rs754446530 14:102482258-102482258 14:102015921-102015921 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=) SNV Conflicting interpretations of pathogenicity 312664 rs140033479 14:102514993-102514993 14:102048656-102048656 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.1825-15C>G SNV Conflicting interpretations of pathogenicity 307126 rs200602134 12:110230249-110230249 12:109792444-109792444 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.1509A>G (p.Glu503=) SNV Conflicting interpretations of pathogenicity 306607 rs143773975 11:9989979-9989979 11:9968432-9968432 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.354C>T (p.Leu118=) SNV Conflicting interpretations of pathogenicity 329879 rs145574885 19:50331754-50331754 19:49828497-49828497 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.1704T>C (p.Leu568=) SNV Conflicting interpretations of pathogenicity 312620 rs192959810 14:102452266-102452266 14:101985929-101985929 CHR071 Charcot-Marie-Tooth Disease AARS1 NM_001605.2(AARS1):c.2580G>A (p.Leu860=) SNV Conflicting interpretations of pathogenicity 320328 rs145581652 16:70287644-70287644 16:70253741-70253741 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.345-10T>G SNV Conflicting interpretations of pathogenicity 312617 rs202110844 14:102445646-102445646 14:101979309-101979309 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=) SNV Conflicting interpretations of pathogenicity 312642 rs149753029 14:102493523-102493523 14:102027186-102027186 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.12514-9C>A SNV Conflicting interpretations of pathogenicity 312656 rs74874468 14:102510203-102510203 14:102043866-102043866 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=) SNV Conflicting interpretations of pathogenicity 312660 rs375767483 14:102514296-102514296 14:102047959-102047959 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.2157G>A (p.Lys719=) SNV Conflicting interpretations of pathogenicity 378135 rs148441213 1:12069736-12069736 1:12009679-12009679 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.446+9G>A SNV Conflicting interpretations of pathogenicity 381005 rs190287033 6:110048477-110048477 6:109727274-109727274 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1767C>T (p.Ser589=) SNV Conflicting interpretations of pathogenicity 390930 rs139898175 5:148407528-148407528 5:149027965-149027965 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.33G>C (p.Ser11=) SNV Conflicting interpretations of pathogenicity 389842 rs527523781 6:110012671-110012671 6:109691468-109691468 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.408A>G (p.Gln136=) SNV Conflicting interpretations of pathogenicity 385077 rs200279483 7:30639646-30639646 7:30600030-30600030 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.3(NDRG1):c.789G>A (p.Ser263=) SNV Conflicting interpretations of pathogenicity 379907 rs61755062 8:134260136-134260136 8:133247893-133247893 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.1402G>T (p.Ala468Ser) SNV Conflicting interpretations of pathogenicity 388906 rs748723735 9:94794767-94794767 9:92032485-92032485 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.-15G>A SNV Conflicting interpretations of pathogenicity 381810 rs756260929 7:75932015-75932015 7:76302698-76302698 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.693A>T (p.Pro231=) SNV Conflicting interpretations of pathogenicity 379724 rs181157785 8:75275287-75275287 8:74363052-74363052 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.1601C>T (p.Thr534Met) SNV Conflicting interpretations of pathogenicity 380607 rs141542114 9:130257600-130257600 9:127495321-127495321 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2619G>A (p.Pro873=) SNV Conflicting interpretations of pathogenicity 389709 rs373001247 11:68705657-68705657 11:68938189-68938189 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.5(MTMR2):c.1770+3A>G SNV Conflicting interpretations of pathogenicity 384786 rs756909627 11:95569309-95569309 11:95836145-95836145 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln) SNV Conflicting interpretations of pathogenicity 380553 rs113808165 12:57908817-57908817 12:57515034-57515034 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.2391A>C (p.Thr797=) SNV Conflicting interpretations of pathogenicity 389593 rs140573721 12:57909119-57909119 12:57515336-57515336 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.5037C>T (p.Arg1679=) SNV Conflicting interpretations of pathogenicity 383688 rs200784979 11:9809181-9809181 11:9787634-9787634 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1298C>T (p.Ser433Leu) SNV Conflicting interpretations of pathogenicity 281116 rs200967041 5:148407997-148407997 5:149028434-149028434 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1017C>T (p.Ala339=) SNV Conflicting interpretations of pathogenicity 282383 rs201779392 5:148411235-148411235 5:149031672-149031672 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.1491+10C>T SNV Conflicting interpretations of pathogenicity 282949 rs201815805 12:110232124-110232124 12:109794319-109794319 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1060+8G>T SNV Conflicting interpretations of pathogenicity 284364 rs201147313 11:68685359-68685359 11:68917891-68917891 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn) SNV Conflicting interpretations of pathogenicity 286258 rs373671419 1:156107493-156107493 1:156137702-156137702 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=) SNV Conflicting interpretations of pathogenicity 287210 rs35079638 14:102516487-102516487 14:102050150-102050150 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.396C>T (p.Arg132=) SNV Conflicting interpretations of pathogenicity 287305 rs142353864 19:50331796-50331796 19:49828539-49828539 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1314G>A (p.Gly438=) SNV Conflicting interpretations of pathogenicity 290660 rs774817302 1:156106161-156106161 1:156136370-156136370 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.2847C>T (p.Ile949=) SNV Conflicting interpretations of pathogenicity 291564 rs150904940 1:10394638-10394638 1:10334580-10334580 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.936+12C>T SNV Conflicting interpretations of pathogenicity 292837 rs199881992 1:156105115-156105115 1:156135324-156135324 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.474+4A>G SNV Conflicting interpretations of pathogenicity 292372 rs141974160 1:12056379-12056379 1:11996322-11996322 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.1817C>T (p.Thr606Ile) SNV Conflicting interpretations of pathogenicity 291552 rs142881321 1:10357048-10357048 1:10296990-10296990 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1269G>A (p.Thr423=) SNV Conflicting interpretations of pathogenicity 292374 rs145994616 1:12064157-12064157 1:12004100-12004100 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) SNV Conflicting interpretations of pathogenicity 293314 rs530923760 1:161277205-161277205 1:161307415-161307415 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3795G>C (p.Leu1265=) SNV Conflicting interpretations of pathogenicity 351896 rs144873879 5:148384346-148384346 5:149004783-149004783 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1814G>A (p.Arg605His) SNV Conflicting interpretations of pathogenicity 351912 rs186864272 5:148407481-148407481 5:149027918-149027918 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.549C>T (p.Ala183=) SNV Conflicting interpretations of pathogenicity 351918 rs147013935 5:148421161-148421161 5:149041598-149041598 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.280-5C>T SNV Conflicting interpretations of pathogenicity 351922 rs201937366 5:148424206-148424206 5:149044643-149044643 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.2547-5T>G SNV Conflicting interpretations of pathogenicity 355047 rs200267243 6:110146286-110146286 6:109825083-109825083 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.*882G>A SNV Conflicting interpretations of pathogenicity 351875 rs775429372 5:148383392-148383392 5:149003829-149003829 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.1272-10C>G SNV Conflicting interpretations of pathogenicity 355039 rs201293291 6:110083284-110083284 6:109762081-109762081 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.1863C>A (p.Thr621=) SNV Conflicting interpretations of pathogenicity 355042 rs201744761 6:110098237-110098237 6:109777034-109777034 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser) SNV Conflicting interpretations of pathogenicity 360011 rs192443850 7:30655580-30655580 7:30615964-30615964 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1809+14T>C SNV Conflicting interpretations of pathogenicity 360016 rs367739730 7:30668299-30668299 7:30628683-30628683 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.685G>A (p.Glu229Lys) SNV Conflicting interpretations of pathogenicity 365017 rs563259179 9:130236145-130236145 9:127473866-127473866 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.-4C>T SNV Conflicting interpretations of pathogenicity 360736 rs372833436 7:75932026-75932026 7:76302709-76302709 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) SNV Conflicting interpretations of pathogenicity 360738 rs558882005 7:75933137-75933137 7:76303820-76303820 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.777G>A (p.Pro259=) SNV Conflicting interpretations of pathogenicity 301870 rs142261202 11:10022545-10022545 11:10000998-10000998 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.764C>T (p.Ala255Val) SNV Conflicting interpretations of pathogenicity 360005 rs765478968 7:30649229-30649229 7:30609613-30609613 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.5(MTMR2):c.1862G>A (p.Arg621Gln) SNV Conflicting interpretations of pathogenicity 306533 rs371925152 11:95568524-95568524 11:95835360-95835360 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.2598G>A (p.Pro866=) SNV Conflicting interpretations of pathogenicity 306596 rs376372877 11:9874235-9874235 11:9852688-9852688 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.946C>T (p.Leu316=) SNV Conflicting interpretations of pathogenicity 301868 rs374841593 11:10019842-10019842 11:9998295-9998295 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.852A>G (p.Arg284=) SNV Conflicting interpretations of pathogenicity 308290 rs773609461 12:32755110-32755110 12:32602176-32602176 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.432G>A (p.Ser144=) SNV Conflicting interpretations of pathogenicity 312619 rs533327200 14:102445743-102445743 14:101979406-101979406 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=) SNV Conflicting interpretations of pathogenicity 312623 rs149902566 14:102452773-102452773 14:101986436-101986436 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=) SNV Conflicting interpretations of pathogenicity 312625 rs114021657 14:102455042-102455042 14:101988705-101988705 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=) SNV Conflicting interpretations of pathogenicity 312641 rs77113510 14:102484914-102484914 14:102018577-102018577 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.13219-9C>T SNV Conflicting interpretations of pathogenicity 312663 rs17541650 14:102514844-102514844 14:102048507-102048507 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1015C>T (p.Leu339Phe) SNV Conflicting interpretations of pathogenicity 305841 rs149045005 11:68685306-68685306 11:68917838-68917838 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1125C>T (p.Asp375=) SNV Conflicting interpretations of pathogenicity 305842 rs140296831 11:68696715-68696715 11:68929247-68929247 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1290C>T (p.Tyr430=) SNV Conflicting interpretations of pathogenicity 305844 rs140654955 11:68700821-68700821 11:68933353-68933353 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.205A>C (p.Met69Leu) SNV Conflicting interpretations of pathogenicity 307143 rs200199102 12:110252397-110252397 12:109814592-109814592 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.705T>C (p.Ser235=) SNV Conflicting interpretations of pathogenicity 301871 rs143209062 11:10024151-10024151 11:10002604-10002604 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2355G>A (p.Arg785=) SNV Conflicting interpretations of pathogenicity 305853 rs147954772 11:68704303-68704303 11:68936835-68936835 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.103A>G (p.Ile35Val) SNV Conflicting interpretations of pathogenicity 305830 rs199586231 11:68673553-68673553 11:68906085-68906085 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=) SNV Conflicting interpretations of pathogenicity 312631 rs139919955 14:102471435-102471435 14:102005098-102005098 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.5(MTMR2):c.1386A>G (p.Leu462=) SNV Conflicting interpretations of pathogenicity 386798 rs139369561 11:95578117-95578117 11:95844953-95844953 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.320-4C>T SNV Conflicting interpretations of pathogenicity 383080 rs377467465 17:15134401-15134401 17:15231084-15231084 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*650G>A SNV Conflicting interpretations of pathogenicity 386230 rs142436391 19:40903814-40903814 19:40397907-40397907 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*4007G>C SNV Conflicting interpretations of pathogenicity 382637 rs146061247 19:40900457-40900457 19:40394550-40394550 CHR071 Charcot-Marie-Tooth Disease PDK3 NM_001142386.3(PDK3):c.376A>G (p.Met126Val) SNV Conflicting interpretations of pathogenicity 382040 rs138321172 X:24521499-24521499 X:24503382-24503382 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.1584-8T>A SNV Conflicting interpretations of pathogenicity 260446 rs199522051 6:110087924-110087924 6:109766721-109766721 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.2097-10C>G SNV Conflicting interpretations of pathogenicity 260448 rs142482745 6:110110787-110110787 6:109789584-109789584 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.151C>G (p.Gln51Glu) SNV Conflicting interpretations of pathogenicity 258557 rs117061430 11:68673601-68673601 11:68906133-68906133 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.1940A>G (p.Tyr647Cys) SNV Conflicting interpretations of pathogenicity 254671 rs150301327 6:110106223-110106223 6:109785020-109785020 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2837G>A (p.Arg946Gln) SNV Conflicting interpretations of pathogenicity 246570 rs149824485 11:68707054-68707054 11:68939586-68939586 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.3290C>A (p.Thr1097Asn) SNV Conflicting interpretations of pathogenicity 246062 rs141894081 11:9861210-9861210 11:9839663-9839663 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.479G>A (p.Gly160Asp) SNV Conflicting interpretations of pathogenicity 245601 rs201826412 12:32735280-32735280 12:32582346-32582346 CHR071 Charcot-Marie-Tooth Disease AARS1 NM_001605.2(AARS1):c.1108A>G (p.Met370Val) SNV Conflicting interpretations of pathogenicity 246273 rs199976742 16:70301676-70301676 16:70267773-70267773 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*4152C>T SNV Conflicting interpretations of pathogenicity 246123 rs142762689 19:40900312-40900312 19:40394405-40394405 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*3578G>A SNV Conflicting interpretations of pathogenicity 245663 rs148939995 19:40900886-40900886 19:40394979-40394979 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*3391G>T SNV Conflicting interpretations of pathogenicity 245910 rs139188673 19:40901073-40901073 19:40395166-40395166 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*1856G>A SNV Conflicting interpretations of pathogenicity 245732 rs61733448 19:40902608-40902608 19:40396701-40396701 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.3843A>G (p.Thr1281=) SNV Conflicting interpretations of pathogenicity 241611 rs147597665 11:9838522-9838522 11:9816975-9816975 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.1656del (p.Tyr553fs) deletion Conflicting interpretations of pathogenicity 241385 rs541606391 12:110231334-110231334 12:109793529-109793529 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.1378C>T (p.Arg460Trp) SNV Conflicting interpretations of pathogenicity 241381 rs34227547 12:110232247-110232247 12:109794442-109794442 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr) SNV Conflicting interpretations of pathogenicity 238994 rs141925609 14:102514235-102514235 14:102047898-102047898 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=) SNV Conflicting interpretations of pathogenicity 238995 rs138571942 14:102516430-102516430 14:102050093-102050093 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*4264_*4266GGA[5] short repeat Conflicting interpretations of pathogenicity 242184 rs139624657 19:40900180-40900185 19:40394273-40394278 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*1779T>C SNV Conflicting interpretations of pathogenicity 242179 rs149715830 19:40902685-40902685 19:40396778-40396778 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.548-10T>G SNV Conflicting interpretations of pathogenicity 235360 rs139207271 11:68678898-68678898 11:68911430-68911430 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1808G>A (p.Arg603His) SNV Conflicting interpretations of pathogenicity 235774 rs151079750 11:68703756-68703756 11:68936288-68936288 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.200G>A (p.Arg67His) SNV Conflicting interpretations of pathogenicity 237875 rs201720099 1:161277082-161277082 1:161307292-161307292 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg) SNV Conflicting interpretations of pathogenicity 241839 rs56380300 9:130242179-130242179 9:127479900-127479900 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) SNV Conflicting interpretations of pathogenicity 246572 rs202176679 1:161275906-161275906 1:161306116-161306116 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro) SNV Conflicting interpretations of pathogenicity 245625 rs367662394 7:75932109-75932109 7:76302792-76302792 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.310+6del deletion Conflicting interpretations of pathogenicity 245606 rs780828430 8:75263707-75263707 8:74351472-74351472 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2360C>T (p.Pro787Leu) SNV Conflicting interpretations of pathogenicity 245872 rs141594765 11:68704308-68704308 11:68936840-68936840 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.586G>A (p.Gly196Ser) SNV Conflicting interpretations of pathogenicity 245644 rs148059394 9:130230076-130230076 9:127467797-127467797 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3512G>T (p.Arg1171Leu) SNV Conflicting interpretations of pathogenicity 245766 rs200728983 5:148386607-148386607 5:149007044-149007044 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.653T>C (p.Leu218Pro) SNV Conflicting interpretations of pathogenicity 245744 rs879253925 1:12058880-12058880 1:11998823-11998823 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3315G>A (p.Val1105=) SNV Conflicting interpretations of pathogenicity 215924 rs375970910 5:148389845-148389845 5:149010282-149010282 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr) SNV Conflicting interpretations of pathogenicity 216545 rs367857772 7:75933482-75933482 7:76304165-76304165 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1827C>T (p.Ser609=) SNV Conflicting interpretations of pathogenicity 214636 rs138724074 1:12066705-12066705 1:12006648-12006648 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.2146G>A (p.Ala716Thr) SNV Conflicting interpretations of pathogenicity 214649 rs144860227 1:12069725-12069725 1:12009668-12009668 CHR071 Charcot-Marie-Tooth Disease AIFM1 NM_004208.4(AIFM1):c.1047C>T (p.Ser349=) SNV Conflicting interpretations of pathogenicity 214080 rs781350745 X:129271081-129271081 X:130137106-130137106 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.2466C>T (p.Asp822=) SNV Conflicting interpretations of pathogenicity 215881 rs145846362 1:10384882-10384882 1:10324824-10324824 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.4458C>T (p.Pro1486=) SNV Conflicting interpretations of pathogenicity 215516 rs147066476 1:10425550-10425550 1:10365492-10365492 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.5017_5019GAA[1] (p.Glu1674del) short repeat Conflicting interpretations of pathogenicity 216777 rs572571832 11:9809196-9809198 11:9787649-9787651 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe) indel Conflicting interpretations of pathogenicity 216737 rs863224780 5:148407892-148407893 5:149028329-149028330 CHR071 Charcot-Marie-Tooth Disease LITAF NM_001136473.1(LITAF):c.146C>T (p.Thr49Met) SNV Conflicting interpretations of pathogenicity 215840 rs141862602 16:11650441-11650441 16:11556585-11556585 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.152A>G (p.His51Arg) SNV Conflicting interpretations of pathogenicity 215728 rs368908933 17:15162437-15162437 17:15259120-15259120 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*3701C>T SNV Conflicting interpretations of pathogenicity 216835 rs147826200 19:40900763-40900763 19:40394856-40394856 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*2459G>A SNV Conflicting interpretations of pathogenicity 216834 rs147587689 19:40902005-40902005 19:40396098-40396098 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2784+1G>T SNV Conflicting interpretations of pathogenicity 204304 rs797044803 11:68705823-68705823 11:68938355-68938355 CHR071 Charcot-Marie-Tooth Disease AARS1 NM_001605.2(AARS1):c.2333A>C (p.Glu778Ala) SNV Conflicting interpretations of pathogenicity 204300 rs797044801 16:70288591-70288591 16:70254688-70254688 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=) SNV Conflicting interpretations of pathogenicity 210870 rs186932188 14:102467991-102467991 14:102001654-102001654 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) SNV Conflicting interpretations of pathogenicity 210871 rs149395439 14:102471438-102471438 14:102005101-102005101 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) SNV Conflicting interpretations of pathogenicity 210873 rs140841480 14:102476187-102476187 14:102009850-102009850 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) SNV Conflicting interpretations of pathogenicity 210875 rs150888094 14:102481630-102481630 14:102015293-102015293 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=) SNV Conflicting interpretations of pathogenicity 210878 rs17541165 14:102482408-102482408 14:102016071-102016071 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=) SNV Conflicting interpretations of pathogenicity 210866 rs150286673 14:102515844-102515844 14:102049507-102049507 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.58C>T (p.His20Tyr) SNV Conflicting interpretations of pathogenicity 214656 rs201715603 1:12049283-12049283 1:11989226-11989226 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.311G>T (p.Arg104Leu) SNV Conflicting interpretations of pathogenicity 214651 rs863224068 1:12052747-12052747 1:11992690-11992690 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.725A>G (p.His242Arg) SNV Conflicting interpretations of pathogenicity 214641 rs863224065 1:12059061-12059061 1:11999004-11999004 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.749G>A (p.Arg250Gln) SNV Conflicting interpretations of pathogenicity 214653 rs140234726 1:12059085-12059085 1:11999028-11999028 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.842G>C (p.Cys281Ser) SNV Conflicting interpretations of pathogenicity 214642 rs147136530 1:12061483-12061483 1:12001426-12001426 CHR071 Charcot-Marie-Tooth Disease LITAF NM_001136473.1(LITAF):c.*43C>G SNV Conflicting interpretations of pathogenicity 208246 rs797044848 16:11643575-11643575 16:11549719-11549719 CHR071 Charcot-Marie-Tooth Disease LITAF NM_001136473.1(LITAF):c.*24G>A SNV Conflicting interpretations of pathogenicity 208245 rs797044847 16:11643594-11643594 16:11549738-11549738 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.117G>C (p.Trp39Cys) SNV Conflicting interpretations of pathogenicity 208243 rs797044846 17:15162472-15162472 17:15259155-15259155 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.2120C>T (p.Pro707Leu) SNV Conflicting interpretations of pathogenicity 208726 rs797044913 9:130265126-130265126 9:127502847-127502847 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu) SNV Conflicting interpretations of pathogenicity 209157 rs201358272 7:30671863-30671863 7:30632247-30632247 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.2719-6C>T SNV Conflicting interpretations of pathogenicity 210868 rs199763298 14:102455034-102455034 14:101988697-101988697 CHR071 Charcot-Marie-Tooth Disease RETREG1 NM_001034850.2(RETREG1):c.826del (p.Ser276fs) deletion Conflicting interpretations of pathogenicity 203444 rs886037748 5:16478190-16478190 5:16478081-16478081 CHR071 Charcot-Marie-Tooth Disease TTR NM_000371.3(TTR):c.384C>T (p.Ala128=) SNV Conflicting interpretations of pathogenicity 197136 rs143906738 18:29178578-29178578 18:31598615-31598615 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1104C>T (p.Tyr368=) SNV Conflicting interpretations of pathogenicity 198778 rs148157556 11:68696694-68696694 11:68929226-68929226 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.756C>T (p.Asn252=) SNV Conflicting interpretations of pathogenicity 198868 rs137960129 1:12059092-12059092 1:11999035-11999035 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1551G>A (p.Gln517=) SNV Conflicting interpretations of pathogenicity 199111 rs41314035 1:156106966-156106966 1:156137175-156137175 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.892G>A (p.Gly298Arg) SNV Conflicting interpretations of pathogenicity 199133 rs41278630 1:12061533-12061533 1:12001476-12001476 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*1028C>A SNV Conflicting interpretations of pathogenicity 216836 rs200033507 19:40903436-40903436 19:40397529-40397529 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.255A>T (p.Ala85=) SNV Conflicting interpretations of pathogenicity 215968 rs139357821 12:32735056-32735056 12:32582122-32582122 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.2304C>T (p.Leu768=) SNV Conflicting interpretations of pathogenicity 220505 rs140829706 5:148406991-148406991 5:149027428-149027428 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.689T>C (p.Val230Ala) SNV Conflicting interpretations of pathogenicity 219388 rs148634904 5:148421021-148421021 5:149041458-149041458 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.137A>C (p.Gln46Pro) SNV Conflicting interpretations of pathogenicity 219741 rs146162276 5:148431719-148431719 5:149052156-149052156 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.79A>G (p.Thr27Ala) SNV Conflicting interpretations of pathogenicity 220296 rs141649676 5:148431777-148431777 5:149052214-149052214 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3813C>T (p.Ser1271=) SNV Conflicting interpretations of pathogenicity 219968 rs140985600 5:148384328-148384328 5:149004765-149004765 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2872A>G (p.Asn958Asp) SNV Conflicting interpretations of pathogenicity 234907 rs141873613 11:68707089-68707089 11:68939621-68939621 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.5(MTMR2):c.1855T>C (p.Ser619Pro) SNV Conflicting interpretations of pathogenicity 234375 rs116750638 11:95568531-95568531 11:95835367-95835367 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.5(MTMR2):c.1336G>A (p.Glu446Lys) SNV Conflicting interpretations of pathogenicity 234456 rs146572467 11:95578167-95578167 11:95845003-95845003 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3380G>A (p.Arg1127Gln) SNV Conflicting interpretations of pathogenicity 234414 rs139192433 5:148388512-148388512 5:149008949-149008949 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1384G>T (p.Glu462Ter) SNV Conflicting interpretations of pathogenicity 234623 rs749850181 5:148407911-148407911 5:149028348-149028348 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.268G>A (p.Asp90Asn) SNV Conflicting interpretations of pathogenicity 234345 rs117692127 9:130221297-130221297 9:127459018-127459018 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1193C>T (p.Ala398Val) SNV Conflicting interpretations of pathogenicity 234315 rs35193202 11:68696783-68696783 11:68929315-68929315 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1920C>G (p.Leu640=) SNV Conflicting interpretations of pathogenicity 219952 rs141468012 1:12067157-12067157 1:12007100-12007100 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.2088G>A (p.Leu696=) SNV Conflicting interpretations of pathogenicity 221058 rs371157406 19:50339605-50339605 19:49836348-49836348 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1488+8G>A SNV Conflicting interpretations of pathogenicity 227503 rs762836610 1:156106827-156106827 1:156137036-156137036 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*1421G>A SNV Conflicting interpretations of pathogenicity 220724 rs117336941 19:40903043-40903043 19:40397136-40397136 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.3(NDRG1):c.31G>A (p.Ala11Thr) SNV Conflicting interpretations of pathogenicity 220934 rs145871479 8:134296524-134296524 8:133284281-133284281 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.5058A>T (p.Arg1686Ser) SNV Conflicting interpretations of pathogenicity 220725 rs146230559 11:9806845-9806845 11:9785298-9785298 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.3819C>T (p.Ser1273=) SNV Conflicting interpretations of pathogenicity 219812 rs145351367 11:9838546-9838546 11:9816999-9816999 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) SNV Conflicting interpretations of pathogenicity 188174 rs786204123 X:70443982-70443982 X:71224132-71224132 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1017G>A (p.Ala339=) SNV Conflicting interpretations of pathogenicity 191702 rs17847242 1:156105772-156105772 1:156135981-156135981 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1862G>A (p.Arg621His) SNV Conflicting interpretations of pathogenicity 193930 rs143032801 5:148407433-148407433 5:149027870-149027870 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1614-4G>C SNV Conflicting interpretations of pathogenicity 194203 rs376324026 7:30665846-30665846 7:30626230-30626230 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1716G>A (p.Pro572=) SNV Conflicting interpretations of pathogenicity 194367 rs370608239 7:30668192-30668192 7:30628576-30628576 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2618C>T (p.Pro873Leu) SNV Conflicting interpretations of pathogenicity 194369 rs141903179 11:68705656-68705656 11:68938188-68938188 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2922T>G (p.Asp974Glu) SNV Conflicting interpretations of pathogenicity 194494 rs147674615 11:68707139-68707139 11:68939671-68939671 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2793C>T (p.Gly931=) SNV Conflicting interpretations of pathogenicity 194495 rs139926138 11:68707010-68707010 11:68939542-68939542 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.135-6T>G SNV Conflicting interpretations of pathogenicity 195385 rs199743509 19:50321822-50321822 19:49818565-49818565 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.1905-10_1905-9del deletion Conflicting interpretations of pathogenicity 195513 rs58344165 1:10357207-10357208 1:10297149-10297150 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) SNV Conflicting interpretations of pathogenicity 195810 rs117199211 14:102470972-102470972 14:102004635-102004635 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) SNV Conflicting interpretations of pathogenicity 197458 rs117846737 14:102486364-102486364 14:102020027-102020027 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.855G>A (p.Ala285=) SNV Conflicting interpretations of pathogenicity 198143 rs147409148 11:68682434-68682434 11:68914966-68914966 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.741C>T (p.Ala247=) SNV Conflicting interpretations of pathogenicity 198145 rs76707931 11:68682320-68682320 11:68914852-68914852 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.604T>G (p.Phe202Val) SNV Conflicting interpretations of pathogenicity 162196 rs724159958 11:68678964-68678964 11:68911496-68911496 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.4073T>C (p.Val1358Ala) SNV Conflicting interpretations of pathogenicity 155750 rs200561798 1:10421790-10421790 1:10361732-10361732 CHR071 Charcot-Marie-Tooth Disease SCN9A NM_001365536.1(SCN9A):c.4026delinsTT (p.Leu1342fs) indel Conflicting interpretations of pathogenicity 157598 rs606231279 2:167085381-167085381 2:166228871-166228871 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) SNV Conflicting interpretations of pathogenicity 188089 rs146920285 5:148384455-148384455 5:149004892-149004892 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.3(NDRG1):c.331A>C (p.Met111Leu) SNV Conflicting interpretations of pathogenicity 188374 rs2233328 8:134271469-134271469 8:133259226-133259226 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.1366C>A (p.Pro456Thr) SNV Conflicting interpretations of pathogenicity 188187 rs138160928 12:32772659-32772659 12:32619725-32619725 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1488+14C>T SNV Conflicting interpretations of pathogenicity 178061 rs377700689 1:156106833-156106833 1:156137042-156137042 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1699-8C>G SNV Conflicting interpretations of pathogenicity 163879 rs727503137 1:156108271-156108271 1:156138480-156138480 CHR071 Charcot-Marie-Tooth Disease TTR NM_000371.4(TTR):c.190T>C (p.Phe64Leu) SNV Conflicting interpretations of pathogenicity 178280 rs138065384 18:29172979-29172979 18:31593016-31593016 CHR071 Charcot-Marie-Tooth Disease TTR NM_000371.4(TTR):c.14G>A (p.Arg5His) SNV Conflicting interpretations of pathogenicity 181697 rs138657343 18:29171879-29171879 18:31591916-31591916 CHR071 Charcot-Marie-Tooth Disease TTR NM_000371.3(TTR):c.355G>A (p.Asp119Asn) SNV Conflicting interpretations of pathogenicity 181690 rs76410435 18:29178549-29178549 18:31598586-31598586 CHR071 Charcot-Marie-Tooth Disease SBF1 NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn) SNV Conflicting interpretations of pathogenicity 162096 rs690016543 22:50903435-50903435 22:50465006-50465006 CHR071 Charcot-Marie-Tooth Disease DNAJB2 NM_006736.6(DNAJB2):c.229+1G>A SNV Conflicting interpretations of pathogenicity 183041 rs730882139 2:220146494-220146494 2:219281772-219281772 CHR071 Charcot-Marie-Tooth Disease SETX NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu) SNV Conflicting interpretations of pathogenicity 242634 rs144334281 9:135203176-135203176 9:132327789-132327789 CHR071 Charcot-Marie-Tooth Disease GAN NM_022041.3(GAN):c.730A>G (p.Ile244Val) SNV Conflicting interpretations of pathogenicity 157527 rs200749953 16:81390486-81390486 16:81356881-81356881 CHR071 Charcot-Marie-Tooth Disease REEP1 NM_001371279.1(REEP1):c.793A>G (p.Arg265Gly) SNV Conflicting interpretations of pathogenicity 242633 rs587781248 2:86444224-86444224 2:86217101-86217101 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.4(NEFL):c.794A>G (p.Tyr265Cys) SNV Conflicting interpretations of pathogenicity 155740 rs587777880 8:24813236-24813236 8:24955722-24955722 CHR071 Charcot-Marie-Tooth Disease SETX NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) SNV Conflicting interpretations of pathogenicity 155745 rs373375060 9:135202760-135202760 9:132327373-132327373 CHR071 Charcot-Marie-Tooth Disease SETX NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu) SNV Conflicting interpretations of pathogenicity 155746 rs534886444 9:135202712-135202712 9:132327325-132327325 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.1977+6213G>T SNV Conflicting interpretations of pathogenicity 155755 rs587777883 1:10363517-10363517 1:10303459-10303459 CHR071 Charcot-Marie-Tooth Disease ARHGEF10 NM_014629.4(ARHGEF10):c.1013G>C (p.Arg338Thr) SNV Conflicting interpretations of pathogenicity 156013 rs587777712 8:1830853-1830853 8:1882687-1882687 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.290-2A>T SNV Conflicting interpretations of pathogenicity 156016 rs587777715 6:110048310-110048310 6:109727107-109727107 CHR071 Charcot-Marie-Tooth Disease AARS1 NM_001605.2(AARS1):c.2185C>T (p.Arg729Trp) SNV Conflicting interpretations of pathogenicity 155734 rs138081804 16:70289732-70289732 16:70255829-70255829 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1641C>T (p.Leu547=) SNV Conflicting interpretations of pathogenicity 138216 rs140924661 1:12065913-12065913 1:12005856-12005856 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) SNV Conflicting interpretations of pathogenicity 66802 rs150840924 1:156106150-156106150 1:156136359-156136359 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_001127660.1(MFN2):c.107_109AGA[2] (p.Lys38del) short repeat Conflicting interpretations of pathogenicity 30734 rs1478175861 1:12049331-12049333 1:11989274-11989276 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1392+2T>C SNV Conflicting interpretations of pathogenicity 30735 rs111723244 1:12064672-12064672 1:12004615-12004615 CHR071 Charcot-Marie-Tooth Disease REEP1 NM_001371279.1(REEP1):c.304-2A>G SNV Conflicting interpretations of pathogenicity 35598 rs387907242 2:86479195-86479195 2:86252072-86252072 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) SNV Conflicting interpretations of pathogenicity 14527 rs142000963 1:156108510-156108510 1:156138719-156138719 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.281del (p.Gly94fs) deletion Conflicting interpretations of pathogenicity 30158 rs80338763 17:15142826-15142826 17:15239509-15239509 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.164G>T (p.Ser55Ile) SNV Conflicting interpretations of pathogenicity 41025 rs281865133 1:161277118-161277118 1:161307328-161307328 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.645+1G>T SNV Conflicting interpretations of pathogenicity 41027 rs281865131 1:161275897-161275897 1:161306107-161306107 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.649C>T (p.Pro217Ser) SNV Conflicting interpretations of pathogenicity 41028 rs281865132 1:161275764-161275764 1:161305974-161305974 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.306del (p.Asp104fs) deletion Conflicting interpretations of pathogenicity 41019 rs281865125 1:161276640-161276640 1:161306850-161306850 CHR071 Charcot-Marie-Tooth Disease EGR2 NM_000399.5(EGR2):c.1160C>A (p.Thr387Asn) SNV Conflicting interpretations of pathogenicity 41009 rs281865139 10:64573238-64573238 10:62813478-62813478 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.241C>T (p.His81Tyr) SNV Conflicting interpretations of pathogenicity 41016 rs281865123 1:161276705-161276705 1:161306915-161306915 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*2303del deletion Conflicting interpretations of pathogenicity 38453 rs281865062 19:40902161-40902161 19:40396254-40396254 CHR071 Charcot-Marie-Tooth Disease SLC5A7 NM_021815.5(SLC5A7):c.1497del (p.Lys499fs) deletion Conflicting interpretations of pathogenicity 39495 rs1558872865 2:108627071-108627071 2:108010615-108010615 CHR071 Charcot-Marie-Tooth Disease EGR2 NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln) SNV Conflicting interpretations of pathogenicity 41007 rs281865136 10:64573322-64573322 10:62813562-62813562 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.1325G>A (p.Arg442His) SNV Conflicting interpretations of pathogenicity 38443 rs281865063 12:32764204-32764204 12:32611270-32611270 CHR071 Charcot-Marie-Tooth Disease TTR NM_000371.3(TTR):c.336+19G>A SNV Conflicting interpretations of pathogenicity 36891 rs75517067 18:29175237-29175237 18:31595274-31595274 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.225del (p.Leu76fs) deletion Conflicting interpretations of pathogenicity 21083 rs116840820 X:70443781-70443781 X:71223931-71223931 CHR071 Charcot-Marie-Tooth Disease RETREG1 NM_001034850.2(RETREG1):c.873+2T>C SNV Conflicting interpretations of pathogenicity 21259 rs137852738 5:16478141-16478141 5:16478032-16478032 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1178-1G>A SNV Conflicting interpretations of pathogenicity 21688 rs80338922 5:148408118-148408118 5:149028555-149028555 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1982T>C (p.Leu661Pro) SNV Conflicting interpretations of pathogenicity 21691 rs80338927 5:148407313-148407313 5:149027750-149027750 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.217_227delinsCCAGTAA (p.Ala73fs) indel Conflicting interpretations of pathogenicity 21692 rs80338919 5:148427477-148427487 5:149047914-149047924 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.2642A>T (p.Asn881Ile) SNV Conflicting interpretations of pathogenicity 21695 rs80338930 5:148406653-148406653 5:149027090-149027090 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.28del (p.Glu10fs) deletion Conflicting interpretations of pathogenicity 21697 rs80338918 5:148442558-148442558 5:149062995-149062995 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3326G>C (p.Arg1109Pro) SNV Conflicting interpretations of pathogenicity 21698 rs80338935 5:148389834-148389834 5:149010271-149010271 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.920G>A (p.Trp307Ter) SNV Conflicting interpretations of pathogenicity 21701 rs80338921 5:148417939-148417939 5:149038376-149038376 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.367G>A (p.Gly123Ser) SNV Conflicting interpretations of pathogenicity 14198 rs121913608 1:161276579-161276579 1:161306789-161306789 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.123G>C (p.Glu41Asp) SNV Conflicting interpretations of pathogenicity 21079 rs116840816 X:70443680-70443680 X:71223830-71223830 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.145T>C (p.Ser49Pro) SNV Conflicting interpretations of pathogenicity 21080 rs116840817 X:70443702-70443702 X:71223852-71223852 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys) SNV Conflicting interpretations of pathogenicity 14519 rs58672172 1:156106042-156106042 1:156136251-156136251 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.895A>G (p.Ile299Val) SNV Conflicting interpretations of pathogenicity 48092 rs150924946 1:156105062-156105062 1:156135271-156135271 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.811-13T>A SNV Conflicting interpretations of pathogenicity 48086 rs80356809 1:156104965-156104965 1:156135174-156135174 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) SNV Conflicting interpretations of pathogenicity 66862 rs267607613 1:156107469-156107469 1:156137678-156137678 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.4(NEFL):c.48_60dup (p.Thr21fs) duplication Conflicting interpretations of pathogenicity 66694 rs58640772 8:24813969-24813970 8:24956455-24956456 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.4(NEFL):c.639C>G (p.Ile213Met) SNV Conflicting interpretations of pathogenicity 66695 rs62636522 8:24813391-24813391 8:24955877-24955877 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.4(NEFL):c.23C>G (p.Pro8Arg) SNV Conflicting interpretations of pathogenicity 66688 rs61491953 8:24814007-24814007 8:24956493-24956493 CHR071 Charcot-Marie-Tooth Disease LITAF NM_001136473.1(LITAF):c.*42C>A SNV Conflicting interpretations of pathogenicity 41230 rs281865135 16:11643576-11643576 16:11549720-11549720 CHR071 Charcot-Marie-Tooth Disease LITAF NM_001136473.1(LITAF):c.*42C>T SNV Conflicting interpretations of pathogenicity 41231 rs281865135 16:11643576-11643576 16:11549720-11549720 CHR071 Charcot-Marie-Tooth Disease TTR NM_000371.4(TTR):c.417G>A (p.Thr139=) SNV Conflicting interpretations of pathogenicity 43455 rs2276382 18:29178611-29178611 18:31598648-31598648 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) SNV Conflicting interpretations of pathogenicity 48035 rs61094188 1:156106048-156106048 1:156136257-156136257 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1566C>T (p.Cys522=) SNV Conflicting interpretations of pathogenicity 48043 rs149339264 1:156106981-156106981 1:156137190-156137190 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1851C>T (p.Ala617=) SNV Conflicting interpretations of pathogenicity 48054 rs143189394 1:156108431-156108431 1:156138640-156138640 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.357C>T (p.Arg119=) SNV Conflicting interpretations of pathogenicity 48062 rs41313880 1:156100408-156100408 1:156130617-156130617 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.725C>T (p.Ala242Val) SNV Conflicting interpretations of pathogenicity 48076 rs397517906 1:156104681-156104681 1:156134890-156134890 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.937-7C>G SNV Conflicting interpretations of pathogenicity 66959 rs267607681 1:156105685-156105685 1:156135894-156135894 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.1108T>C (p.Phe370Leu) SNV Conflicting interpretations of pathogenicity 68463 rs140467171 12:57894120-57894120 12:57500337-57500337 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met) SNV Conflicting interpretations of pathogenicity 128930 rs149300055 14:102514328-102514328 14:102047991-102047991 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.652G>A (p.Glu218Lys) SNV Conflicting interpretations of pathogenicity 126481 rs515726168 12:110240856-110240856 12:109803051-109803051 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.12102+6G>A SNV Conflicting interpretations of pathogenicity 128923 rs377669980 14:102508077-102508077 14:102041740-102041740 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.645C>T (p.Ser215=) SNV Conflicting interpretations of pathogenicity 130301 rs80227512 5:148421065-148421065 5:149041502-149041502 CHR071 Charcot-Marie-Tooth Disease TTR NM_000371.4(TTR):c.371G>A (p.Arg124His) SNV Conflicting interpretations of pathogenicity 13458 rs121918095 18:29178565-29178565 18:31598602-31598602 CHR071 Charcot-Marie-Tooth Disease POLG NM_001126131.2(POLG):c.2243G>C (p.Trp748Ser) SNV Conflicting interpretations of pathogenicity 13507 rs113994097 15:89866657-89866657 15:89323426-89323426 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.469C>T (p.Arg157Trp) SNV Conflicting interpretations of pathogenicity 8444 rs28936682 17:15134248-15134248 17:15230931-15230931 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del) deletion Conflicting interpretations of pathogenicity 8441 rs786205111 17:15134362-15134373 17:15231045-15231056 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.353C>T (p.Thr118Met) SNV Conflicting interpretations of pathogenicity 8431 rs104894619 17:15134364-15134364 17:15231047-15231047 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.19_20del (p.Ser7fs) deletion Conflicting interpretations of pathogenicity 8435 rs587776691 17:15164025-15164026 17:15260708-15260709 CHR071 Charcot-Marie-Tooth Disease RAB7A NM_004637.5(RAB7A):c.482A>C (p.Asn161Thr) SNV Conflicting interpretations of pathogenicity 7347 rs121909080 3:128526468-128526468 3:128807625-128807625 CHR071 Charcot-Marie-Tooth Disease RAB7A NM_004637.5(RAB7A):c.471G>C (p.Lys157Asn) SNV Conflicting interpretations of pathogenicity 7348 rs121909081 3:128526457-128526457 3:128807614-128807614 CHR071 Charcot-Marie-Tooth Disease SOX10 NM_006941.3(SOX10):c.797del (p.Gly266fs) deletion Conflicting interpretations of pathogenicity 7411 rs397515371 22:38370106-38370106 22:37974099-37974099 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe) SNV Conflicting interpretations of pathogenicity 7478 rs28939680 7:75933158-75933158 7:76303841-76303841 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile) SNV Conflicting interpretations of pathogenicity 7480 rs28937568 7:75933324-75933324 7:76304007-76304007 CHR071 Charcot-Marie-Tooth Disease DNM2 NM_004945.3(DNM2):c.1597G>T (p.Gly533Cys) SNV Conflicting interpretations of pathogenicity 7283 rs121909093 19:10922991-10922991 19:10812315-10812315 CHR071 Charcot-Marie-Tooth Disease DNM2 NM_004945.3(DNM2):c.1697T>A (p.Leu566His) SNV Conflicting interpretations of pathogenicity 7284 rs121909094 19:10930693-10930693 19:10820017-10820017 CHR071 Charcot-Marie-Tooth Disease DNM2 NM_004945.3(DNM2):c.1672A>G (p.Lys558Glu) SNV Conflicting interpretations of pathogenicity 7277 rs121909088 19:10930668-10930668 19:10819992-10819992 CHR071 Charcot-Marie-Tooth Disease TTR NM_000371.4(TTR):c.328C>A (p.His110Asn) SNV Conflicting interpretations of pathogenicity 13427 rs121918074 18:29175210-29175210 18:31595247-31595247 CHR071 Charcot-Marie-Tooth Disease TTR NM_000371.4(TTR):c.416C>T (p.Thr139Met) SNV Conflicting interpretations of pathogenicity 13434 rs28933981 18:29178610-29178610 18:31598647-31598647 CHR071 Charcot-Marie-Tooth Disease ATP7A NM_000052.7(ATP7A):c.2981C>T (p.Thr994Ile) SNV Conflicting interpretations of pathogenicity 11794 rs267606673 X:77284811-77284811 X:78029314-78029314 CHR071 Charcot-Marie-Tooth Disease ATP7A NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser) SNV Conflicting interpretations of pathogenicity 11795 rs267606672 X:77300999-77300999 X:78045502-78045502 CHR071 Charcot-Marie-Tooth Disease NTRK1 NM_002529.3(NTRK1):c.1076A>G (p.Tyr359Cys) SNV Conflicting interpretations of pathogenicity 12311 rs121964869 1:156843650-156843650 1:156873858-156873858 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.254C>G (p.Ser85Cys) SNV Conflicting interpretations of pathogenicity 10444 rs104894823 X:70443811-70443811 X:71223961-71223961 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.548T>C (p.Leu183Pro) SNV Conflicting interpretations of pathogenicity 9205 rs137852644 7:30640795-30640795 7:30601179-30601179 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.374A>G (p.Glu125Gly) SNV Conflicting interpretations of pathogenicity 9206 rs137852645 7:30639612-30639612 7:30599996-30599996 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_001127660.1(MFN2):c.617C>T (p.Thr206Ile) SNV Conflicting interpretations of pathogenicity 2279 rs119103266 1:12058844-12058844 1:11998787-11998787 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His) SNV Conflicting interpretations of pathogenicity 2485 rs80359890 5:148422281-148422281 5:149042718-149042718 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1403G>A (p.Arg468His) SNV Conflicting interpretations of pathogenicity 2282 rs138382758 1:12064892-12064892 1:12004835-12004835 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.530-2A>G SNV Conflicting interpretations of pathogenicity 2480 rs80338920 5:148421182-148421182 5:149041619-149041619 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.493C>G (p.His165Asp) SNV Conflicting interpretations of pathogenicity 2275 rs119103262 1:12057372-12057372 1:11997315-11997315 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_001304480.1(FGD4):c.1962_1963AG[1] (p.Glu655fs) short repeat Conflicting interpretations of pathogenicity 1013 rs1565921326 12:32777993-32777994 12:32625059-32625060 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.893T>C (p.Met298Thr) SNV Conflicting interpretations of pathogenicity 1015 rs63749871 12:32755151-32755151 12:32602217-32602217 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.1762-2A>G SNV Conflicting interpretations of pathogenicity 1017 rs281865065 12:32786481-32786481 12:32633547-32633547 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.1004C>T (p.Ala335Val) SNV Conflicting interpretations of pathogenicity 1324 rs145770066 19:50334047-50334047 19:49830790-49830790 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.294del (p.Phe98fs) deletion Conflicting interpretations of pathogenicity 1722 rs1562648373 6:110048313-110048313 6:109727110-109727110 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.1043_1050del (p.Asp348fs) deletion Conflicting interpretations of pathogenicity 1724 rs1368013631 6:110064881-110064888 6:109743678-109743685 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.2480C>T (p.Thr827Ile) SNV Conflicting interpretations of pathogenicity 4660 rs121908162 1:10384896-10384896 1:10324838-10324838 CHR071 Charcot-Marie-Tooth Disease HSPB8 NM_014365.2(HSPB8):c.423G>T (p.Lys141Asn) SNV Conflicting interpretations of pathogenicity 2619 rs104894345 12:119624885-119624885 12:119187080-119187080 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.3(NDRG1):c.538-1G>A SNV Conflicting interpretations of pathogenicity 5121 rs11575976 8:134266839-134266839 8:133254596-133254596 CHR071 Charcot-Marie-Tooth Disease ELP1 NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu) SNV Conflicting interpretations of pathogenicity 6087 rs28939712 9:111656342-111656342 9:108894062-108894062 CHR071 Charcot-Marie-Tooth Disease YARS1 NM_003680.3(YARS1):c.121G>A (p.Gly41Arg) SNV Conflicting interpretations of pathogenicity 6188 rs121908833 1:33276595-33276595 1:32810994-32810994 CHR071 Charcot-Marie-Tooth Disease SLC12A6 NM_001365088.1(SLC12A6):c.901del (p.Ile301fs) deletion Conflicting interpretations of pathogenicity 5330 rs606231157 15:34546766-34546766 15:34254565-34254565 CHR071 Charcot-Marie-Tooth Disease SLC12A6 NM_001365088.1(SLC12A6):c.619C>T (p.Arg207Cys) SNV Conflicting interpretations of pathogenicity 5331 rs121908429 15:34549914-34549914 15:34257713-34257713 CHR071 Charcot-Marie-Tooth Disease SLC12A6 NM_001365088.1(SLC12A6):c.2995_3004del (p.Gln999fs) deletion Conflicting interpretations of pathogenicity 5332 rs606231158 15:34528947-34528956 15:34236746-34236755 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*791C>T SNV Conflicting interpretations of pathogenicity 4791 rs104894706 19:40903673-40903673 19:40397766-40397766 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.660G>C (p.Val220=) SNV Conflicting interpretations of pathogenicity 697396 5:148421050-148421050 5:149041487-149041487 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.401A>C (p.Tyr134Ser) SNV Conflicting interpretations of pathogenicity 696334 6:110048423-110048423 6:109727220-109727220 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.658A>G (p.Ile220Val) SNV Conflicting interpretations of pathogenicity 695179 6:110059539-110059539 6:109738336-109738336 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.4(NDRG1):c.448G>T (p.Ala150Ser) SNV Conflicting interpretations of pathogenicity 697254 8:134270611-134270611 8:133258368-133258368 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.814C>T (p.Arg272Trp) SNV Conflicting interpretations of pathogenicity 696742 9:130241695-130241695 9:127479416-127479416 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.1406G>A (p.Arg469Gln) SNV Conflicting interpretations of pathogenicity 697181 9:130251781-130251781 9:127489502-127489502 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.1271+5A>G SNV Conflicting interpretations of pathogenicity 663445 6:110081591-110081591 6:109760388-109760388 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.374C>T (p.Thr125Met) SNV Conflicting interpretations of pathogenicity 697392 12:32735175-32735175 12:32582241-32582241 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=) SNV Conflicting interpretations of pathogenicity 696864 14:102476232-102476232 14:102009895-102009895 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.2715C>A (p.Thr905=) SNV Conflicting interpretations of pathogenicity 697161 19:40901544-40901544 19:40395637-40395637 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*1399_*1402del deletion Conflicting interpretations of pathogenicity 637393 19:40903062-40903065 19:40397155-40397158 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.2934T>G (p.Val978=) SNV Conflicting interpretations of pathogenicity 699521 1:10394587-10394587 1:10334529-10334529 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.4(NDRG1):c.403A>G (p.Ile135Val) SNV Conflicting interpretations of pathogenicity 700182 8:134270656-134270656 8:133258413-133258413 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=) SNV Conflicting interpretations of pathogenicity 882014 14:102482381-102482381 14:102016044-102016044 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.1818G>A (p.Pro606=) SNV Conflicting interpretations of pathogenicity 893793 19:40902441-40902441 19:40396534-40396534 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.339G>C (p.Gln113His) SNV Conflicting interpretations of pathogenicity 909677 8:24813691-24813691 8:24956177-24956177 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.1351G>A (p.Ala451Thr) SNV Conflicting interpretations of pathogenicity 841226 9:130251726-130251726 9:127489447-127489447 CHR071 Charcot-Marie-Tooth Disease DNAJB2 NM_006736.6(DNAJB2):c.89G>A (p.Trp30Ter) SNV Conflicting interpretations of pathogenicity 856608 2:220145323-220145323 2:219280601-219280601 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.388G>T (p.Val130Leu) SNV Conflicting interpretations of pathogenicity 704277 9:94842337-94842337 9:92080055-92080055 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.944G>A (p.Arg315Gln) SNV Conflicting interpretations of pathogenicity 700201 19:40903315-40903315 19:40397408-40397408 CHR071 Charcot-Marie-Tooth Disease PDK3 NM_001142386.3(PDK3):c.341A>C (p.Lys114Thr) SNV Conflicting interpretations of pathogenicity 697832 X:24521464-24521464 X:24503347-24503347 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.211G>A (p.Glu71Lys) SNV Conflicting interpretations of pathogenicity 805017 1:161277071-161277071 1:161307281-161307281 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.4(NEFL):c.509C>G (p.Thr170Ser) SNV Conflicting interpretations of pathogenicity 669317 8:24813521-24813521 8:24956007-24956007 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.4443+1G>C SNV Conflicting interpretations of pathogenicity 637854 11:9829546-9829546 11:9807999-9807999 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.2541G>A (p.Val847=) SNV Conflicting interpretations of pathogenicity 649397 14:102453792-102453792 14:101987455-101987455 CHR071 Charcot-Marie-Tooth Disease LITAF NM_001136473.1(LITAF):c.331G>A (p.Ala111Thr) SNV Conflicting interpretations of pathogenicity 639258 16:11647435-11647435 16:11553579-11553579 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.272T>G (p.Val91Gly) SNV Conflicting interpretations of pathogenicity 694943 1:12052708-12052708 1:11992651-11992651 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1273C>T (p.Arg425Cys) SNV Conflicting interpretations of pathogenicity 637695 11:68700804-68700804 11:68933336-68933336 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2362C>T (p.Arg788Ter) SNV Conflicting interpretations of pathogenicity 637262 11:68704310-68704310 11:68936842-68936842 CHR071 Charcot-Marie-Tooth Disease ATL1 NM_015915.5(ATL1):c.976del (p.Val326fs) deletion Conflicting interpretations of pathogenicity 637513 14:51087429-51087429 14:50620711-50620711 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*590_*599dup duplication Conflicting interpretations of pathogenicity 637915 19:40903864-40903865 19:40397957-40397958 CHR071 Charcot-Marie-Tooth Disease INF2 NM_022489.4(INF2):c.640C>T (p.Arg214Cys) SNV Conflicting interpretations of pathogenicity 635443 14:105169764-105169764 14:104703427-104703427 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1127T>C (p.Met376Thr) SNV Conflicting interpretations of pathogenicity 637733 1:12062127-12062127 1:12002070-12002070 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.8G>C (p.Trp3Ser) SNV Conflicting interpretations of pathogenicity 543926 rs1555936989 X:70443565-70443565 X:71223715-71223715 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1403C>T (p.Ala468Val) SNV Conflicting interpretations of pathogenicity 546985 rs6874630 5:148407892-148407892 5:149028329-149028329 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.2320C>T (p.Arg774Cys) SNV Conflicting interpretations of pathogenicity 536854 rs145102919 12:110224531-110224531 12:109786726-109786726 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.5(MTMR2):c.1741A>G (p.Ile581Val) SNV Conflicting interpretations of pathogenicity 543419 rs149476960 11:95569341-95569341 11:95836177-95836177 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.617C>T (p.Pro206Leu) SNV Conflicting interpretations of pathogenicity 542171 rs138776588 12:57884116-57884116 12:57490333-57490333 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.556C>T (p.Arg186Trp) SNV Conflicting interpretations of pathogenicity 619180 rs776291104 19:50333073-50333073 19:49829816-49829816 CHR071 Charcot-Marie-Tooth Disease INF2 NM_022489.4(INF2):c.550G>A (p.Glu184Lys) SNV Conflicting interpretations of pathogenicity 599128 rs1566778676 14:105169674-105169674 14:104703337-104703337 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1327C>T (p.Arg443Cys) SNV Conflicting interpretations of pathogenicity 617575 rs751549678 11:68700858-68700858 11:68933390-68933390 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.590C>T (p.Ala197Val) SNV Conflicting interpretations of pathogenicity 617760 rs1569215418 X:70444147-70444147 X:71224297-71224297 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.394T>C (p.Trp132Arg) SNV Conflicting interpretations of pathogenicity 617787 rs1569215263 X:70443951-70443951 X:71224101-71224101 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.431del (p.Leu144fs) deletion Conflicting interpretations of pathogenicity 631569 rs1182353109 1:161276515-161276515 1:161306725-161306725 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.540C>G (p.Phe180Leu) SNV Conflicting interpretations of pathogenicity 578250 rs771022595 X:70444097-70444097 X:71224247-71224247 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.3(NDRG1):c.1134G>A (p.Ser378=) SNV Conflicting interpretations of pathogenicity 639526 8:134251172-134251172 8:133238929-133238929 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.3(NDRG1):c.1053_1082del (p.340_349TRSRSHTSEG[2]) deletion Conflicting interpretations of pathogenicity 639524 8:134251224-134251253 8:133238981-133239010 CHR071 Charcot-Marie-Tooth Disease EGR2 NM_000399.5(EGR2):c.1352G>A (p.Gly451Asp) SNV Conflicting interpretations of pathogenicity 570320 rs138967272 10:64573046-64573046 10:62813286-62813286 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.5(MTMR2):c.16A>T (p.Ser6Cys) SNV Conflicting interpretations of pathogenicity 476870 rs377006678 11:95657103-95657103 11:95923939-95923939 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1551C>T (p.Leu517=) SNV Conflicting interpretations of pathogenicity 466578 rs150549628 11:68701945-68701945 11:68934477-68934477 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1064C>T (p.Ala355Val) SNV Conflicting interpretations of pathogenicity 466572 rs142062146 11:68696654-68696654 11:68929186-68929186 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.459G>A (p.Pro153=) SNV Conflicting interpretations of pathogenicity 467762 rs149804782 8:75272520-75272520 8:74360285-74360285 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg) SNV Conflicting interpretations of pathogenicity 467773 rs775622226 8:75276336-75276336 8:74364101-74364101 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.24C>T (p.Ser8=) SNV Conflicting interpretations of pathogenicity 462791 rs144841836 1:161279672-161279672 1:161309882-161309882 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.965C>T (p.Thr322Met) SNV Conflicting interpretations of pathogenicity 467776 rs199529910 8:75276490-75276490 8:74364255-74364255 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.4(NEFL):c.338_339delinsCC (p.Gln113Pro) indel Conflicting interpretations of pathogenicity 464926 rs1554497641 8:24813691-24813692 8:24956177-24956178 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.2154A>G (p.Pro718=) SNV Conflicting interpretations of pathogenicity 476855 rs201138266 6:110110854-110110854 6:109789651-109789651 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1482C>T (p.Leu494=) SNV Conflicting interpretations of pathogenicity 476885 rs200665714 5:148407813-148407813 5:149028250-149028250 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*1198G>A SNV Conflicting interpretations of pathogenicity 476984 rs146323928 19:40903266-40903266 19:40397359-40397359 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*3913G>A SNV Conflicting interpretations of pathogenicity 476966 rs202119177 19:40900551-40900551 19:40394644-40394644 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.958C>T (p.Arg320Ter) SNV Conflicting interpretations of pathogenicity 469047 rs142902080 12:110236613-110236613 12:109798808-109798808 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.1812C>T (p.Asp604=) SNV Conflicting interpretations of pathogenicity 516031 rs765658939 11:9983552-9983552 11:9962005-9962005 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.2869-3C>T SNV Conflicting interpretations of pathogenicity 513201 rs750614475 14:102457861-102457861 14:101991524-101991524 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=) SNV Conflicting interpretations of pathogenicity 514404 rs374214760 14:102504829-102504829 14:102038492-102038492 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.12075C>T (p.Leu4025=) SNV Conflicting interpretations of pathogenicity 516470 rs373636519 14:102508044-102508044 14:102041707-102041707 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.2304G>C (p.Ser768=) SNV Conflicting interpretations of pathogenicity 499138 rs138986228 12:110224547-110224547 12:109786742-109786742 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.2413T>A (p.Leu805Met) SNV Conflicting interpretations of pathogenicity 501119 rs139572764 1:10384829-10384829 1:10324771-10324771 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.3(NDRG1):c.944-13C>T SNV Conflicting interpretations of pathogenicity 507023 rs753312340 8:134251375-134251375 8:133239132-133239132 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.1700A>T (p.Tyr567Phe) SNV Conflicting interpretations of pathogenicity 521669 rs763889344 12:110230581-110230581 12:109792776-109792776 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.1633G>A (p.Gly545Arg) SNV Conflicting interpretations of pathogenicity 543291 rs145266399 1:10355818-10355818 1:10295760-10295760 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.2689G>A (p.Ala897Thr) SNV Conflicting interpretations of pathogenicity 543173 rs142567076 1:10386320-10386320 1:10326262-10326262 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.365-6C>G SNV Conflicting interpretations of pathogenicity 533816 rs200902768 7:75933113-75933113 7:76303796-76303796 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.300G>A (p.Arg100=) SNV Conflicting interpretations of pathogenicity 543464 rs368831195 6:110048322-110048322 6:109727119-109727119 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.748C>T (p.Arg250Trp) SNV Conflicting interpretations of pathogenicity 543219 rs373107074 1:12059084-12059084 1:11999027-11999027 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.175G>C (p.Gly59Arg) SNV Conflicting interpretations of pathogenicity 447427 rs1555937077 X:70443732-70443732 X:71223882-71223882 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.478T>C (p.Tyr160His) SNV Conflicting interpretations of pathogenicity 447432 rs1555937197 X:70444035-70444035 X:71224185-71224185 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3127G>T (p.Ala1043Ser) SNV Conflicting interpretations of pathogenicity 451327 rs200819602 5:148392224-148392224 5:149012661-149012661 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.818T>G (p.Val273Gly) SNV Conflicting interpretations of pathogenicity 449524 rs1458700065 1:12061459-12061459 1:12001402-12001402 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.120C>G (p.Phe40Leu) SNV Conflicting interpretations of pathogenicity 449988 rs142153571 9:94874782-94874782 9:92112500-92112500 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.364+6C>G SNV Conflicting interpretations of pathogenicity 447529 rs753061670 7:75932399-75932399 7:76303082-76303082 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.277G>A (p.Asp93Asn) SNV Conflicting interpretations of pathogenicity 432537 rs777201941 7:75932306-75932306 7:76302989-76302989 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1603A>G (p.Ile535Val) SNV Conflicting interpretations of pathogenicity 432239 rs140221316 11:68701997-68701997 11:68934529-68934529 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.233T>C (p.Leu78Pro) SNV Conflicting interpretations of pathogenicity 431943 rs1555565276 17:15142874-15142874 17:15239557-15239557 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.703_705AAG[1] (p.Lys236del) short repeat Conflicting interpretations of pathogenicity 447734 rs755446743 1:161275705-161275707 1:161305915-161305917 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.3(NDRG1):c.1101C>T (p.Ser367=) SNV Conflicting interpretations of pathogenicity 447748 rs201959970 8:134251205-134251205 8:133238962-133238962 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.523A>G (p.Thr175Ala) SNV Conflicting interpretations of pathogenicity 448711 rs146304351 12:110246137-110246137 12:109808332-109808332 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3511C>T (p.Arg1171Cys) SNV Conflicting interpretations of pathogenicity 448370 rs759785462 5:148386608-148386608 5:149007045-149007045 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.148T>C (p.Ser50Pro) SNV Conflicting interpretations of pathogenicity 430122 rs913934445 X:70443705-70443705 X:71223855-71223855 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.566T>G (p.Val189Gly) SNV Conflicting interpretations of pathogenicity 420023 rs1064794244 X:70444123-70444123 X:71224273-71224273 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2869A>G (p.Lys957Glu) SNV Conflicting interpretations of pathogenicity 424987 rs370985388 11:68707086-68707086 11:68939618-68939618 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3676-8G>A SNV Conflicting interpretations of pathogenicity 426503 rs772823083 5:148384473-148384473 5:149004910-149004910 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.165G>C (p.Gln55His) SNV Conflicting interpretations of pathogenicity 426960 rs201692151 11:68673615-68673615 11:68906147-68906147 CHR071 Charcot-Marie-Tooth Disease AIFM1 NM_004208.4(AIFM1):c.602G>A (p.Arg201Lys) SNV Conflicting interpretations of pathogenicity 427033 rs886703882 X:129281471-129281471 X:130147496-130147496 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*1097C>T SNV Conflicting interpretations of pathogenicity 418427 rs185112635 19:40903367-40903367 19:40397460-40397460 CHR071 Charcot-Marie-Tooth Disease EGR2 NM_000399.5(EGR2):c.897_899AGC[6] (p.Ala309dup) short repeat Conflicting interpretations of pathogenicity 419028 rs746688326 10:64573486-64573487 10:62813726-62813727 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.1913C>T (p.Pro638Leu) SNV Conflicting interpretations of pathogenicity 418525 rs35058636 12:110226500-110226500 12:109788695-109788695 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.68C>G (p.Thr23Arg) SNV Conflicting interpretations of pathogenicity 411592 rs906563423 17:15163977-15163977 17:15260660-15260660 CHR071 Charcot-Marie-Tooth Disease LITAF NM_001136473.1(LITAF):c.302A>G (p.Lys101Arg) SNV Conflicting interpretations of pathogenicity 404114 rs201283647 16:11647464-11647464 16:11553608-11553608 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.178+7C>A SNV Conflicting interpretations of pathogenicity 416789 rs147885521 17:15162404-15162404 17:15259087-15259087 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.94G>A (p.Asp32Asn) SNV Conflicting interpretations of pathogenicity 408269 rs150784835 9:130217298-130217298 9:127455019-127455019 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.1019dup (p.Arg341fs) duplication Conflicting interpretations of pathogenicity 406140 rs756461496 8:75276540-75276541 8:74364305-74364306 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1483A>G (p.Thr495Ala) SNV Conflicting interpretations of pathogenicity 407267 rs10077543 5:148407812-148407812 5:149028249-149028249 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.73G>T (p.Asp25Tyr) SNV Conflicting interpretations of pathogenicity 414373 rs10066882 5:148431783-148431783 5:149052220-149052220 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1085C>G (p.Thr362Arg) SNV Conflicting interpretations of pathogenicity 408317 rs387906991 1:12062085-12062085 1:12002028-12002028 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.3002C>T (p.Ser1001Leu) SNV Uncertain significance 73019 rs267597898 1:10397142-10397142 1:10337084-10337084 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.1701C>A (p.Tyr567Ter) SNV Uncertain significance 126466 rs515726156 12:110230580-110230580 12:109792775-109792775 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.99G>T (p.Glu33Asp) SNV Uncertain significance 66965 rs57966821 1:156084808-156084808 1:156115017-156115017 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.864_867del (p.His289fs) deletion Uncertain significance 66948 rs60168366 1:156105030-156105033 1:156135239-156135242 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.749C>T (p.Ala250Val) SNV Uncertain significance 48078 rs397517907 1:156104705-156104705 1:156134914-156134914 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.2047-1G>A SNV Uncertain significance 41418 rs1564287793 9:130265052-130265052 9:127502773-127502773 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.4(NEFL):c.19G>A (p.Glu7Lys) SNV Uncertain significance 66684 rs57848467 8:24814011-24814011 8:24956497-24956497 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1698+13C>T SNV Uncertain significance 66611 rs80338938 1:156107547-156107547 1:156137756-156137756 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1318G>A (p.Val440Met) SNV Uncertain significance 14520 rs121912493 1:156106165-156106165 1:156136374-156136374 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys) SNV Uncertain significance 14503 rs28928902 1:156106742-156106742 1:156136951-156136951 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.341T>C (p.Ile114Thr) SNV Uncertain significance 242787 rs267607241 1:161276605-161276605 1:161306815-161306815 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.346A>C (p.Asn116His) SNV Uncertain significance 242748 rs267607242 1:161276600-161276600 1:161306810-161306810 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*2156G>A SNV Uncertain significance 38452 rs3814290 19:40902308-40902308 19:40396401-40396401 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.337G>T (p.Val113Phe) SNV Uncertain significance 41020 rs281865126 1:161276609-161276609 1:161306819-161306819 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.347A>G (p.Asn116Ser) SNV Uncertain significance 41026 rs281865130 1:161276599-161276599 1:161306809-161306809 CHR071 Charcot-Marie-Tooth Disease SETX NM_015046.7(SETX):c.3880C>T (p.Arg1294Cys) SNV Uncertain significance 446190 rs267607044 9:135203105-135203105 9:132327718-132327718 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.4(NEFL):c.1007T>C (p.Leu336Pro) SNV Uncertain significance 155737 rs587777881 8:24813023-24813023 8:24955509-24955509 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.790C>T (p.Arg264Cys) SNV Uncertain significance 155727 rs587777879 X:70444347-70444347 X:71224497-71224497 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys) SNV Uncertain significance 156025 rs587777718 12:57906632-57906632 12:57512849-57512849 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.3269T>C (p.Ile1090Thr) SNV Uncertain significance 155749 rs374098797 1:10397576-10397576 1:10337518-10337518 CHR071 Charcot-Marie-Tooth Disease SETX NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) SNV Uncertain significance 155742 rs534723946 9:135205481-135205481 9:132330094-132330094 CHR071 Charcot-Marie-Tooth Disease SETX NM_015046.7(SETX):c.3075_3076insTGA (p.Arg1026Ter) insertion Uncertain significance 242632 rs587781249 9:135203909-135203910 9:132328522-132328523 CHR071 Charcot-Marie-Tooth Disease SEPTIN9 NM_001113491.2(SEPTIN9):c.866G>A (p.Arg289His) SNV Uncertain significance 157523 rs587781247 17:75478370-75478370 17:77482288-77482288 CHR071 Charcot-Marie-Tooth Disease SETX NM_015046.7(SETX):c.6792A>G (p.Ile2264Met) SNV Uncertain significance 157524 rs148041889 9:135153507-135153507 9:132278120-132278120 CHR071 Charcot-Marie-Tooth Disease TTR NM_000371.3(TTR):c.368G>A (p.Arg123His) SNV Uncertain significance 181698 rs148538950 18:29178562-29178562 18:31598599-31598599 CHR071 Charcot-Marie-Tooth Disease TTR NM_000371.3(TTR):c.280G>C (p.Asp94His) SNV Uncertain significance 181695 rs730881164 18:29175162-29175162 18:31595199-31595199 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.31C>T (p.Arg11Trp) SNV Uncertain significance 188129 rs149762843 5:148442555-148442555 5:149062992-149062992 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1870C>T (p.Arg624Cys) SNV Uncertain significance 161293 rs140455668 1:156108450-156108450 1:156138659-156138659 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala) SNV Uncertain significance 155752 rs371138642 8:75263639-75263639 8:74351404-74351404 CHR071 Charcot-Marie-Tooth Disease GAN NM_022041.3(GAN):c.1084G>A (p.Glu362Lys) SNV Uncertain significance 157535 rs587779384 16:81396214-81396214 16:81362609-81362609 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.5(MTMR2):c.810A>C (p.Leu270Phe) SNV Uncertain significance 157536 rs587779385 11:95583021-95583021 11:95849857-95849857 CHR071 Charcot-Marie-Tooth Disease AARS1 NM_001605.2(AARS1):c.497T>G (p.Ile166Ser) SNV Uncertain significance 157537 rs199997425 16:70305858-70305858 16:70271955-70271955 CHR071 Charcot-Marie-Tooth Disease ARHGEF10 NM_014629.4(ARHGEF10):c.2197C>T (p.His733Tyr) SNV Uncertain significance 157538 rs147531758 8:1871183-1871183 8:1923017-1923017 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.5(MTMR2):c.*53G>A SNV Uncertain significance 157539 rs587779387 11:95568401-95568401 11:95835237-95835237 CHR071 Charcot-Marie-Tooth Disease GAN NM_022041.3(GAN):c.23C>G (p.Ser8Cys) SNV Uncertain significance 157530 rs587781251 16:81348741-81348741 16:81315136-81315136 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.881A>G (p.Lys294Arg) SNV Uncertain significance 157531 rs373698346 1:10335502-10335502 1:10275444-10275444 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3550A>G (p.Met1184Val) SNV Uncertain significance 157532 rs142451273 5:148386569-148386569 5:149007006-149007006 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1342G>C (p.Asp448His) SNV Uncertain significance 157533 rs587781252 5:148407953-148407953 5:149028390-149028390 CHR071 Charcot-Marie-Tooth Disease CNTNAP2 duplication Uncertain significance 190033 7:146705271-146748724 CHR071 Charcot-Marie-Tooth Disease SEMA5A deletion Uncertain significance 190035 5:9129755-9257708 CHR071 Charcot-Marie-Tooth Disease AARS1 NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) SNV Uncertain significance 190103 rs143370729 16:70289666-70289666 16:70255763-70255763 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.3127A>G (p.Ile1043Val) SNV Uncertain significance 220646 rs147438385 11:9864301-9864301 11:9842754-9842754 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.1424A>G (p.Gln475Arg) SNV Uncertain significance 220352 rs199894823 11:9990064-9990064 11:9968517-9968517 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.247C>G (p.Gln83Glu) SNV Uncertain significance 220541 rs143148835 19:50322495-50322495 19:49819238-49819238 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.7539G>C (p.Glu2513Asp) SNV Uncertain significance 220931 rs376901405 14:102482751-102482751 14:102016414-102016414 CHR071 Charcot-Marie-Tooth Disease LITAF NM_001136473.1(LITAF):c.*118G>A SNV Uncertain significance 221090 rs864622744 16:11643500-11643500 16:11549644-11549644 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.5(MTMR2):c.56C>T (p.Pro19Leu) SNV Uncertain significance 234848 rs574213477 11:95657063-95657063 11:95923899-95923899 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.1912C>G (p.Pro638Ala) SNV Uncertain significance 234727 rs760044422 12:110226501-110226501 12:109788696-109788696 CHR071 Charcot-Marie-Tooth Disease DCTN2 NM_006400.4(DCTN2):c.337C>T (p.His113Tyr) SNV Uncertain significance 217860 rs863223327 12:57928880-57928880 12:57535097-57535097 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.767C>G (p.Ala256Gly) SNV Uncertain significance 218603 rs148095551 11:68682346-68682346 11:68914878-68914878 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.347T>C (p.Met116Thr) SNV Uncertain significance 242508 rs281865060 8:75272408-75272408 8:74360173-74360173 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.163A>G (p.Thr55Ala) SNV Uncertain significance 216293 rs863224613 X:70443720-70443720 X:71223870-71223870 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.647G>A (p.Arg216His) SNV Uncertain significance 200964 rs757041809 1:156104603-156104603 1:156134812-156134812 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1591C>A (p.Pro531Thr) SNV Uncertain significance 204302 rs756985703 11:68701985-68701985 11:68934517-68934517 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.3824G>A (p.Arg1275His) SNV Uncertain significance 216776 rs150028248 11:9838541-9838541 11:9816994-9816994 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.708+5CTC[2] short repeat Uncertain significance 216874 rs863224842 1:12058940-12058942 1:11998883-11998885 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1574A>G (p.Asn525Ser) SNV Uncertain significance 214634 rs145654854 1:12065846-12065846 1:12005789-12005789 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.3(NDRG1):c.63+6T>C SNV Uncertain significance 216637 rs199597649 8:134296486-134296486 8:133284243-133284243 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1973G>A (p.Arg658His) SNV Uncertain significance 216739 rs138040787 5:148407322-148407322 5:149027759-149027759 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.809T>C (p.Met270Thr) SNV Uncertain significance 246495 rs771996573 1:12059145-12059145 1:11999088-11999088 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.572T>C (p.Leu191Pro) SNV Uncertain significance 246494 rs879254288 1:12057451-12057451 1:11997394-11997394 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.571G>A (p.Val191Met) SNV Uncertain significance 245677 rs879253896 1:156104251-156104251 1:156134460-156134460 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln) SNV Uncertain significance 246074 rs138592977 1:156105759-156105759 1:156135968-156135968 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1150C>T (p.Arg384Trp) SNV Uncertain significance 245900 rs777353788 1:12062150-12062150 1:12002093-12002093 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.2954A>G (p.Glu985Gly) SNV Uncertain significance 246193 rs575937427 5:148406234-148406234 5:149026671-149026671 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1254G>T (p.Gln418His) SNV Uncertain significance 246248 rs146997517 5:148408041-148408041 5:149028478-149028478 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1002-5T>A SNV Uncertain significance 245849 rs769711653 5:148411255-148411255 5:149031692-149031692 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1000A>G (p.Met334Val) SNV Uncertain significance 246592 rs139653980 5:148417859-148417859 5:149038296-149038296 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1754T>C (p.Met585Thr) SNV Uncertain significance 246215 rs374378925 7:30668230-30668230 7:30628614-30628614 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.861+5G>C SNV Uncertain significance 245819 rs879253963 11:10022456-10022456 11:10000909-10000909 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.381C>G (p.Ser127Arg) SNV Uncertain significance 245834 rs775782198 11:68675737-68675737 11:68908269-68908269 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1844G>A (p.Arg615His) SNV Uncertain significance 245883 rs201640213 11:68703792-68703792 11:68936324-68936324 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.3(NDRG1):c.122A>G (p.His41Arg) SNV Uncertain significance 245649 rs2233318 8:134276873-134276873 8:133264630-133264630 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.4(NEFL):c.1179G>C (p.Leu393Phe) SNV Uncertain significance 245748 rs879253927 8:24811300-24811300 8:24953786-24953786 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3160C>T (p.His1054Tyr) SNV Uncertain significance 241505 rs769133498 5:148392191-148392191 5:149012628-149012628 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.2990G>A (p.Arg997Gln) SNV Uncertain significance 241504 rs140307699 5:148406198-148406198 5:149026635-149026635 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*1127A>G SNV Uncertain significance 242187 rs753330520 19:40903337-40903337 19:40397430-40397430 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*2895G>A SNV Uncertain significance 242181 rs752531623 19:40901569-40901569 19:40395662-40395662 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.5(MTMR2):c.1402G>C (p.Asp468His) SNV Uncertain significance 241075 rs142460913 11:95574858-95574858 11:95841694-95841694 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*921C>T SNV Uncertain significance 246038 rs528907584 19:40903543-40903543 19:40397636-40397636 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.361C>T (p.Arg121Trp) SNV Uncertain significance 246283 rs750435566 19:40904547-40904547 19:40398640-40398640 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*3861C>T SNV Uncertain significance 245707 rs201393544 19:40900603-40900603 19:40394696-40394696 CHR071 Charcot-Marie-Tooth Disease LITAF NM_001136473.1(LITAF):c.*117C>T SNV Uncertain significance 245638 rs748017885 16:11643501-11643501 16:11549645-11549645 CHR071 Charcot-Marie-Tooth Disease AARS1 NM_001605.2(AARS1):c.2222C>T (p.Thr741Met) SNV Uncertain significance 246148 rs148383122 16:70289695-70289695 16:70255792-70255792 CHR071 Charcot-Marie-Tooth Disease AARS1 NM_001605.2(AARS1):c.1222G>A (p.Gly408Arg) SNV Uncertain significance 246399 rs369135192 16:70301562-70301562 16:70267659-70267659 CHR071 Charcot-Marie-Tooth Disease AARS1 NM_001605.2(AARS1):c.385C>G (p.Pro129Ala) SNV Uncertain significance 246216 rs370622071 16:70310483-70310483 16:70276580-70276580 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*4424T>G SNV Uncertain significance 246041 rs146468976 19:40900040-40900040 19:40394133-40394133 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*4317G>A SNV Uncertain significance 246575 rs377009047 19:40900147-40900147 19:40394240-40394240 CHR071 Charcot-Marie-Tooth Disease HADHB NM_000183.3(HADHB):c.210-1G>C SNV Uncertain significance 253052 rs200777054 2:26492820-26492820 2:26269952-26269952 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.37G>T (p.Gly13Trp) SNV Uncertain significance 245716 rs763302555 12:110252565-110252565 12:109814760-109814760 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1340C>G (p.Ala447Gly) SNV Uncertain significance 305845 rs144240271 11:68700871-68700871 11:68933403-68933403 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.4712A>G (p.Asn1571Ser) SNV Uncertain significance 306581 rs371960255 11:9810876-9810876 11:9789329-9789329 CHR071 Charcot-Marie-Tooth Disease AARS1 NM_001605.2(AARS1):c.1253A>G (p.Tyr418Cys) SNV Uncertain significance 320344 rs147433234 16:70299535-70299535 16:70265632-70265632 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.4522C>T (p.Arg1508Cys) SNV Uncertain significance 306583 rs141108330 11:9817426-9817426 11:9795879-9795879 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.1519G>A (p.Glu507Lys) SNV Uncertain significance 306606 rs139217120 11:9989969-9989969 11:9968422-9968422 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.3(NDRG1):c.664G>A (p.Gly222Ser) SNV Uncertain significance 362035 rs199995009 8:134262717-134262717 8:133250474-133250474 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.146C>A (p.Ser49Tyr) SNV Uncertain significance 291465 rs143654307 1:10316344-10316344 1:10256286-10256286 CHR071 Charcot-Marie-Tooth Disease DST NM_015548.5(DST):c.2435C>T (p.Ala812Val) SNV Uncertain significance 357601 rs150656535 6:56496105-56496105 6:56631307-56631307 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1721A>G (p.Asn574Ser) SNV Uncertain significance 351913 rs201256776 5:148407574-148407574 5:149028011-149028011 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.1781G>A (p.Arg594His) SNV Uncertain significance 288562 rs537838691 9:130258325-130258325 9:127496046-127496046 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.4(NEFL):c.22C>A (p.Pro8Thr) SNV Uncertain significance 287020 rs886043551 8:24814008-24814008 8:24956494-24956494 CHR071 Charcot-Marie-Tooth Disease AARS1 NM_001605.2(AARS1):c.2192C>T (p.Ser731Leu) SNV Uncertain significance 284220 rs150873930 16:70289725-70289725 16:70255822-70255822 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.2581C>T (p.Arg861Trp) SNV Uncertain significance 284014 rs147490172 5:148406714-148406714 5:149027151-149027151 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.897C>G (p.Ile299Met) SNV Uncertain significance 283398 rs762718963 1:156105064-156105064 1:156135273-156135273 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.877G>A (p.Val293Ile) SNV Uncertain significance 392704 rs761171176 11:68682456-68682456 11:68914988-68914988 CHR071 Charcot-Marie-Tooth Disease AIFM1 NM_004208.4(AIFM1):c.1597G>A (p.Glu533Lys) SNV Uncertain significance 372555 rs1057517852 X:129264118-129264118 X:130130143-130130143 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.1966C>A (p.Pro656Thr) SNV Uncertain significance 329887 rs199761611 19:50339483-50339483 19:49836226-49836226 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*2033G>A SNV Uncertain significance 329273 rs537664679 19:40902431-40902431 19:40396524-40396524 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*705G>C SNV Uncertain significance 329286 rs757322355 19:40903759-40903759 19:40397852-40397852 CHR071 Charcot-Marie-Tooth Disease AARS1 NM_001605.2(AARS1):c.2129C>T (p.Pro710Leu) SNV Uncertain significance 320333 rs754391789 16:70291984-70291984 16:70258081-70258081 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*3476G>A SNV Uncertain significance 329257 rs368459753 19:40900988-40900988 19:40395081-40395081 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*744C>T SNV Uncertain significance 329285 rs540526276 19:40903720-40903720 19:40397813-40397813 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.379C>T (p.Leu127=) SNV Uncertain significance 329289 rs886054441 19:40904529-40904529 19:40398622-40398622 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.392A>G (p.Asn131Ser) SNV Uncertain significance 369728 rs776404901 1:12056293-12056293 1:11996236-11996236 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.317G>A (p.Arg106His) SNV Uncertain significance 411670 rs145039212 1:161276629-161276629 1:161306839-161306839 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.278G>A (p.Gly93Glu) SNV Uncertain significance 411666 rs1060503418 1:161276668-161276668 1:161306878-161306878 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.2021C>T (p.Thr674Ile) SNV Uncertain significance 408312 rs41274468 1:10380144-10380144 1:10320086-10320086 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.1879A>G (p.Thr627Ala) SNV Uncertain significance 407087 rs762859144 6:110098253-110098253 6:109777050-109777050 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.517C>A (p.Leu173Met) SNV Uncertain significance 407269 rs147633804 5:148422269-148422269 5:149042706-149042706 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.592G>C (p.Glu198Gln) SNV Uncertain significance 411672 rs770994564 1:161275951-161275951 1:161306161-161306161 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3413G>A (p.Ser1138Asn) SNV Uncertain significance 407264 rs150805608 5:148388479-148388479 5:149008916-149008916 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.604C>G (p.Gln202Glu) SNV Uncertain significance 408270 rs746274685 9:130230094-130230094 9:127467815-127467815 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1607G>A (p.Arg536Gln) SNV Uncertain significance 407266 rs369977771 5:148407688-148407688 5:149028125-149028125 CHR071 Charcot-Marie-Tooth Disease EGR2 NM_000399.5(EGR2):c.1235A>G (p.Glu412Gly) SNV Uncertain significance 409979 rs749558026 10:64573163-64573163 10:62813403-62813403 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.1976C>T (p.Ser659Leu) SNV Uncertain significance 409288 rs779715512 12:110226437-110226437 12:109788632-109788632 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.1045A>G (p.Lys349Glu) SNV Uncertain significance 403855 rs746685729 11:10015476-10015476 11:9993929-9993929 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.847T>A (p.Tyr283Asn) SNV Uncertain significance 409292 rs200210023 12:110238429-110238429 12:109800624-109800624 CHR071 Charcot-Marie-Tooth Disease AARS1 NM_001605.2(AARS1):c.1019A>G (p.Asn340Ser) SNV Uncertain significance 412288 rs140135726 16:70302226-70302226 16:70268323-70268323 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*2753C>G SNV Uncertain significance 410603 rs141686828 19:40901711-40901711 19:40395804-40395804 CHR071 Charcot-Marie-Tooth Disease TTR NM_000371.3(TTR):c.370C>T (p.Arg124Cys) SNV Uncertain significance 404412 rs745834030 18:29178564-29178564 18:31598601-31598601 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*3785C>G SNV Uncertain significance 410604 rs149732789 19:40900679-40900679 19:40394772-40394772 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.2230G>A (p.Glu744Lys) SNV Uncertain significance 420586 rs1064794571 1:12071578-12071578 1:12011521-12011521 CHR071 Charcot-Marie-Tooth Disease NTRK1 NM_002529.3(NTRK1):c.1474G>A (p.Glu492Lys) SNV Uncertain significance 418887 rs144901788 1:156845431-156845431 1:156875639-156875639 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*887C>T SNV Uncertain significance 424325 rs751238438 19:40903577-40903577 19:40397670-40397670 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.14G>T (p.Gly5Val) SNV Uncertain significance 418234 rs1064793139 X:70443571-70443571 X:71223721-71223721 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.1967G>C (p.Cys656Ser) SNV Uncertain significance 429748 rs138120231 11:9879906-9879906 11:9858359-9858359 CHR071 Charcot-Marie-Tooth Disease AARS1 NM_001605.2(AARS1):c.1949A>G (p.Lys650Arg) SNV Uncertain significance 429803 rs142233951 16:70292926-70292926 16:70259023-70259023 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.2812C>T (p.His938Tyr) SNV Uncertain significance 448368 rs144688852 5:148406483-148406483 5:149026920-149026920 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1651T>C (p.Phe551Leu) SNV Uncertain significance 448367 rs1554121720 5:148407644-148407644 5:149028081-149028081 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.284G>A (p.Arg95Lys) SNV Uncertain significance 448089 rs1555565234 17:15142823-15142823 17:15239506-15239506 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.925A>G (p.Lys309Glu) SNV Uncertain significance 439817 rs200079527 11:68685216-68685216 11:68917748-68917748 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.193A>G (p.Thr65Ala) SNV Uncertain significance 447727 rs1553259760 1:161277089-161277089 1:161307299-161307299 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.292A>G (p.Lys98Glu) SNV Uncertain significance 447723 rs1553141706 1:12052728-12052728 1:11992671-11992671 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1128G>A (p.Met376Ile) SNV Uncertain significance 447715 rs1553144059 1:12062128-12062128 1:12002071-12002071 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1988G>T (p.Arg663Leu) SNV Uncertain significance 447720 rs766735605 1:12067225-12067225 1:12007168-12007168 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1121T>C (p.Ile374Thr) SNV Uncertain significance 433161 rs1193634362 11:68696711-68696711 11:68929243-68929243 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1523C>T (p.Ser508Leu) SNV Uncertain significance 433162 rs754465226 11:68701367-68701367 11:68933899-68933899 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.1124A>G (p.Gln375Arg) SNV Uncertain significance 436639 rs770153492 11:10014580-10014580 11:9993033-9993033 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.1180C>T (p.Arg394Cys) SNV Uncertain significance 432403 rs916967743 12:57894192-57894192 12:57500409-57500409 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.904-4del deletion Uncertain significance 432408 rs757987823 9:130242114-130242114 9:127479835-127479835 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*1427C>T SNV Uncertain significance 444468 rs150244426 19:40903037-40903037 19:40397130-40397130 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.329G>A (p.Gly110Asp) SNV Uncertain significance 444810 rs1555937145 X:70443886-70443886 X:71224036-71224036 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1537A>G (p.Ile513Val) SNV Uncertain significance 439899 rs755657087 1:12065809-12065809 1:12005752-12005752 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.699T>G (p.Ile233Met) SNV Uncertain significance 449718 rs201597392 12:57884356-57884356 12:57490573-57490573 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.1456C>G (p.Pro486Ala) SNV Uncertain significance 476778 rs201500946 1:10355147-10355147 1:10295089-10295089 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.2222T>G (p.Leu741Trp) SNV Uncertain significance 476769 rs1553146559 1:12071570-12071570 1:12011513-12011513 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1256G>A (p.Arg419His) SNV Uncertain significance 476822 rs777648901 1:156106103-156106103 1:156136312-156136312 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1118G>A (p.Arg373Gln) SNV Uncertain significance 476765 rs142042485 1:12062118-12062118 1:12002061-12002061 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.574G>T (p.Val192Phe) SNV Uncertain significance 447437 rs771579861 X:70444131-70444131 X:71224281-71224281 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.1019C>T (p.Ser340Leu) SNV Uncertain significance 451061 rs371203080 9:94809516-94809516 9:92047234-92047234 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.533A>G (p.Asp178Gly) SNV Uncertain significance 447434 rs1555937224 X:70444090-70444090 X:71224240-71224240 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.271G>C (p.Val91Leu) SNV Uncertain significance 447429 rs756928158 X:70443828-70443828 X:71223978-71223978 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys) SNV Uncertain significance 447371 rs370057212 7:30655651-30655651 7:30616035-30616035 CHR071 Charcot-Marie-Tooth Disease SCN11A NM_001349253.2(SCN11A):c.1744G>A (p.Ala582Thr) SNV Uncertain significance 541582 rs141228634 3:38945454-38945454 3:38903963-38903963 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.830C>T (p.Thr277Met) SNV Uncertain significance 543415 rs757969875 5:148418029-148418029 5:149038466-149038466 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.172G>T (p.Val58Phe) SNV Uncertain significance 531691 rs1341175303 1:161277110-161277110 1:161307320-161307320 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.428C>T (p.Thr143Met) SNV Uncertain significance 531684 rs750724650 1:161276518-161276518 1:161306728-161306728 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_001127660.1(MFN2):c.1306_1308GAG[1] (p.Glu437del) short repeat Uncertain significance 543200 rs766213721 1:12064584-12064586 1:12004527-12004529 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.3686C>G (p.Thr1229Arg) SNV Uncertain significance 543204 rs749610931 1:10407845-10407845 1:10347787-10347787 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.395C>T (p.Pro132Leu) SNV Uncertain significance 520859 rs779371027 12:110246265-110246265 12:109808460-109808460 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.637A>G (p.Ile213Val) SNV Uncertain significance 521767 rs753503984 X:70444194-70444194 X:71224344-71224344 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.848A>G (p.Asn283Ser) SNV Uncertain significance 519439 rs765241364 1:156105015-156105015 1:156135224-156135224 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1724G>A (p.Arg575His) SNV Uncertain significance 521359 rs564375950 1:12066602-12066602 1:12006545-12006545 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.572_584del (p.Leu191fs) deletion Uncertain significance 503828 rs771457306 7:75933444-75933456 7:76304127-76304139 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.87G>C (p.Gln29His) SNV Uncertain significance 500597 rs751336040 11:10215503-10215503 11:10193956-10193956 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.712C>T (p.Arg238Cys) SNV Uncertain significance 477603 rs200774406 X:70444269-70444269 X:71224419-71224419 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.565G>A (p.Val189Ile) SNV Uncertain significance 477602 rs770116247 X:70444122-70444122 X:71224272-71224272 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2398G>A (p.Gly800Ser) SNV Uncertain significance 466590 rs751122806 11:68704346-68704346 11:68936878-68936878 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.5(MTMR2):c.894A>T (p.Glu298Asp) SNV Uncertain significance 476877 rs200898934 11:95582937-95582937 11:95849773-95849773 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.137C>T (p.Ser46Phe) SNV Uncertain significance 469035 rs202066574 12:110252465-110252465 12:109814660-109814660 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.5410A>G (p.Met1804Val) SNV Uncertain significance 476938 rs755264093 11:9803095-9803095 11:9781548-9781548 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.2116C>T (p.Arg706Cys) SNV Uncertain significance 475419 rs148501787 12:57908753-57908753 12:57514970-57514970 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*4538A>G SNV Uncertain significance 476975 rs368067072 19:40899926-40899926 19:40394019-40394019 CHR071 Charcot-Marie-Tooth Disease AARS1 NM_001605.2(AARS1):c.958C>T (p.Arg320Cys) SNV Uncertain significance 476745 rs138490305 16:70303525-70303525 16:70269622-70269622 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*707C>T SNV Uncertain significance 476976 rs374193988 19:40903757-40903757 19:40397850-40397850 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*4343C>T SNV Uncertain significance 476971 rs771840476 19:40900121-40900121 19:40394214-40394214 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*2669G>A SNV Uncertain significance 476958 rs772009400 19:40901795-40901795 19:40395888-40395888 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*1053T>G SNV Uncertain significance 476983 rs776556523 19:40903411-40903411 19:40397504-40397504 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.4G>C (p.Val2Leu) SNV Uncertain significance 476805 rs780512266 19:50321602-50321602 19:49818345-49818345 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.107G>A (p.Arg36His) SNV Uncertain significance 476796 rs1555800954 19:50321705-50321705 19:49818448-49818448 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.475G>A (p.Gly159Ser) SNV Uncertain significance 477598 rs1555937194 X:70444032-70444032 X:71224182-71224182 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.1677G>C (p.Met559Ile) SNV Uncertain significance 476802 rs369006637 19:50338793-50338793 19:49835536-49835536 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*3395C>T SNV Uncertain significance 476963 rs937051533 19:40901069-40901069 19:40395162-40395162 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*3204C>T SNV Uncertain significance 476962 rs765924621 19:40901260-40901260 19:40395353-40395353 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.2460-8A>G SNV Uncertain significance 476860 rs201965891 6:110117960-110117960 6:109796757-109796757 CHR071 Charcot-Marie-Tooth Disease SCN11A NM_001349253.2(SCN11A):c.4604A>G (p.Lys1535Arg) SNV Uncertain significance 474730 rs1553630322 3:38888957-38888957 3:38847466-38847466 CHR071 Charcot-Marie-Tooth Disease SCN11A NM_001349253.2(SCN11A):c.5067C>G (p.Phe1689Leu) SNV Uncertain significance 474743 rs201107889 3:38888494-38888494 3:38847003-38847003 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.2528G>T (p.Gly843Val) SNV Uncertain significance 476899 rs1463859150 5:148406767-148406767 5:149027204-149027204 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.2273C>A (p.Ala758Asp) SNV Uncertain significance 476895 rs200006756 5:148407022-148407022 5:149027459-149027459 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.2582G>A (p.Arg861Gln) SNV Uncertain significance 476901 rs142971473 5:148406713-148406713 5:149027150-149027150 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.2492G>A (p.Ser831Asn) SNV Uncertain significance 476898 rs375034766 5:148406803-148406803 5:149027240-149027240 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.680G>A (p.Arg227Gln) SNV Uncertain significance 476910 rs1257812868 5:148421030-148421030 5:149041467-149041467 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.2695C>T (p.Arg899Ter) SNV Uncertain significance 476864 rs750069994 6:110146439-110146439 6:109825236-109825236 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.372C>G (p.His124Gln) SNV Uncertain significance 465273 rs145243219 7:75933126-75933126 7:76303809-76303809 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.1619G>T (p.Ser540Ile) SNV Uncertain significance 472793 rs1400819662 9:130257618-130257618 9:127495339-127495339 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.3(NDRG1):c.703C>T (p.Arg235Cys) SNV Uncertain significance 476848 rs772268356 8:134261010-134261010 8:133248767-133248767 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.1067G>A (p.Arg356Gln) SNV Uncertain significance 476911 rs188588431 11:10014637-10014637 11:9993090-9993090 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.1091G>C (p.Arg364Thr) SNV Uncertain significance 579349 rs755934741 12:32760988-32760988 12:32608054-32608054 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1111G>A (p.Val371Met) SNV Uncertain significance 572765 rs770912338 11:68696701-68696701 11:68929233-68929233 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.4805A>G (p.Lys1602Arg) SNV Uncertain significance 566427 rs147772705 11:9810783-9810783 11:9789236-9789236 CHR071 Charcot-Marie-Tooth Disease AARS1 NM_001605.2(AARS1):c.1409T>A (p.Ile470Asn) SNV Uncertain significance 581312 rs1567605658 16:70298944-70298944 16:70265041-70265041 CHR071 Charcot-Marie-Tooth Disease AARS1 NM_001605.2(AARS1):c.783C>G (p.Asp261Glu) SNV Uncertain significance 576647 rs1374950172 16:70304132-70304132 16:70270229-70270229 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.281_283del (p.Phe94del) deletion Uncertain significance 575102 rs1424434006 19:40904625-40904627 19:40398718-40398720 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.476G>C (p.Arg159Pro) SNV Uncertain significance 580036 rs773478255 17:15134241-15134241 17:15230924-15230924 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.83G>A (p.Arg28His) SNV Uncertain significance 578355 rs892885630 11:68671503-68671503 11:68904035-68904035 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.277G>A (p.Asp93Asn) SNV Uncertain significance 566764 rs200897747 11:68675633-68675633 11:68908165-68908165 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.746G>A (p.Arg249His) SNV Uncertain significance 576477 rs771294425 12:110238530-110238530 12:109800725-109800725 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.3887C>T (p.Ser1296Leu) SNV Uncertain significance 570866 rs767811228 11:9838478-9838478 11:9816931-9816931 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.184G>A (p.Asp62Asn) SNV Uncertain significance 575960 rs770149544 12:110252418-110252418 12:109814613-109814613 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1181G>A (p.Arg394His) SNV Uncertain significance 568120 rs538243357 1:12064069-12064069 1:12004012-12004012 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.908-3_908-2del short repeat Uncertain significance 568032 rs766739944 19:50333946-50333947 19:49830689-49830690 CHR071 Charcot-Marie-Tooth Disease DNM2 NM_004945.3(DNM2):c.1652_1659+1del deletion Uncertain significance 568603 rs1568314339 19:10923043-10923051 19:10812367-10812375 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*3114G>A SNV Uncertain significance 573889 rs764162630 19:40901350-40901350 19:40395443-40395443 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*2498G>T SNV Uncertain significance 568278 rs541455813 19:40901966-40901966 19:40396059-40396059 CHR071 Charcot-Marie-Tooth Disease DST NM_015548.5(DST):c.3319-2694A>G SNV Uncertain significance 570538 rs373440035 6:56481976-56481976 6:56617178-56617178 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.5483G>A (p.Cys1828Tyr) SNV Uncertain significance 571350 rs146064484 11:9802032-9802032 11:9780485-9780485 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*3927G>A SNV Uncertain significance 586381 rs139120811 19:40900537-40900537 19:40394630-40394630 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.656G>A (p.Arg219His) SNV Uncertain significance 566117 rs199834862 X:70444213-70444213 X:71224363-71224363 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.332T>C (p.Met111Thr) SNV Uncertain significance 576212 rs759808649 17:15134385-15134385 17:15231068-15231068 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.524del (p.Gln175fs) deletion Uncertain significance 631961 rs1561770179 5:148422262-148422262 5:149042699-149042699 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.708G>A (p.Thr236=) SNV Uncertain significance 631564 rs1557524867 1:12058935-12058935 1:11998878-11998878 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3611A>G (p.Lys1204Arg) SNV Uncertain significance 624068 rs143436632 5:148386508-148386508 5:149006945-149006945 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.2257C>T (p.Arg753Trp) SNV Uncertain significance 624071 rs530824367 5:148407038-148407038 5:149027475-149027475 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.467G>T (p.Ser156Ile) SNV Uncertain significance 585713 rs1557521949 1:12056368-12056368 1:11996311-11996311 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.281G>C (p.Arg94Pro) SNV Uncertain significance 637285 1:12052717-12052717 1:11992660-11992660 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.306dup (p.Gly103fs) duplication Uncertain significance 637751 1:12052735-12052736 1:11992678-11992679 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.311G>A (p.Arg104Gln) SNV Uncertain significance 637289 1:12052747-12052747 1:11992690-11992690 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.314C>G (p.Thr105Arg) SNV Uncertain significance 637719 1:12056215-12056215 1:11996158-11996158 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_001127660.1(MFN2):c.322G>A (p.Gly108Arg) SNV Uncertain significance 637936 1:12056223-12056223 1:11996166-11996166 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.368C>T (p.Pro123Leu) SNV Uncertain significance 637753 1:12056269-12056269 1:11996212-11996212 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.377T>G (p.Ile126Ser) SNV Uncertain significance 637290 1:12056278-12056278 1:11996221-11996221 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.380G>A (p.Gly127Asp) SNV Uncertain significance 637731 1:12056281-12056281 1:11996224-11996224 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.380G>T (p.Gly127Val) SNV Uncertain significance 637295 1:12056281-12056281 1:11996224-11996224 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.383A>G (p.His128Arg) SNV Uncertain significance 637721 1:12056284-12056284 1:11996227-11996227 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.395G>A (p.Cys132Tyr) SNV Uncertain significance 637314 1:12056296-12056296 1:11996239-11996239 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.408= (p.Val136=) undetermined variant Uncertain significance 637931 1:12056309-12056309 1:11996252-11996252 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_001127660.1(MFN2):c.477_478TG[1] (p.Val160fs) short repeat Uncertain significance 637312 1:12057356-12057357 1:11997299-11997300 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.494A>T (p.His165Leu) SNV Uncertain significance 637309 1:12057373-12057373 1:11997316-11997316 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.496G>A (p.Ala166Thr) SNV Uncertain significance 637307 1:12057375-12057375 1:11997318-11997318 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.500T>C (p.Leu167Pro) SNV Uncertain significance 637291 1:12057379-12057379 1:11997322-11997322 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.605G>C (p.Gly202Ala) SNV Uncertain significance 637745 1:12058832-12058832 1:11998775-11998775 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.609T>G (p.Ile203Met) SNV Uncertain significance 637726 1:12058836-12058836 1:11998779-11998779 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.612T>A (p.Asp204Glu) SNV Uncertain significance 637739 1:12058839-12058839 1:11998782-11998782 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.640G>A (p.Asp214Asn) SNV Uncertain significance 637738 1:12058867-12058867 1:11998810-11998810 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.669T>A (p.Phe223Leu) SNV Uncertain significance 637299 1:12058896-12058896 1:11998839-11998839 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.677_688del (p.Val226_Ser229del) deletion Uncertain significance 637940 1:12058903-12058914 1:11998846-11998857 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.692C>T (p.Ser231Phe) SNV Uncertain significance 637741 1:12058919-12058919 1:11998862-11998862 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.694A>G (p.Thr232Ala) SNV Uncertain significance 637752 1:12058921-12058921 1:11998864-11998864 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.695C>A (p.Thr232Asn) SNV Uncertain significance 637746 1:12058922-12058922 1:11998865-11998865 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.697C>G (p.Leu233Val) SNV Uncertain significance 637303 1:12058924-12058924 1:11998867-11998867 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.718T>A (p.Phe240Ile) SNV Uncertain significance 637280 1:12059054-12059054 1:11998997-11998997 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.742C>G (p.Leu248Val) SNV Uncertain significance 637496 1:12059078-12059078 1:11999021-11999021 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.752C>T (p.Pro251Leu) SNV Uncertain significance 637945 1:12059088-12059088 1:11999031-11999031 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.756C>A (p.Asn252Lys) SNV Uncertain significance 637727 1:12059092-12059092 1:11999035-11999035 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.1673C>A (p.Pro558His) SNV Uncertain significance 542172 rs771808261 12:57906056-57906056 12:57512273-57512273 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.2294C>T (p.Ala765Val) SNV Uncertain significance 542173 rs559255944 12:57909022-57909022 12:57515239-57515239 CHR071 Charcot-Marie-Tooth Disease AARS1 NM_001605.2(AARS1):c.1811A>G (p.Asn604Ser) SNV Uncertain significance 543167 rs371595630 16:70293064-70293064 16:70259161-70259161 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*1044C>T SNV Uncertain significance 543387 rs557355077 19:40903420-40903420 19:40397513-40397513 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*1919G>A SNV Uncertain significance 543409 rs370979792 19:40902545-40902545 19:40396638-40396638 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.1573T>C (p.Cys525Arg) SNV Uncertain significance 543413 rs746860317 11:9989915-9989915 11:9968368-9968368 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1198G>A (p.Asp400Asn) SNV Uncertain significance 534932 rs779654686 11:68696788-68696788 11:68929320-68929320 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.5(MTMR2):c.604C>G (p.Pro202Ala) SNV Uncertain significance 543380 rs186380748 11:95590766-95590766 11:95857602-95857602 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.1337G>A (p.Arg446His) SNV Uncertain significance 536865 rs143502097 12:110232288-110232288 12:109794483-109794483 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.167G>A (p.Arg56His) SNV Uncertain significance 536855 rs767169716 12:110252435-110252435 12:109814630-109814630 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.734A>G (p.Asn245Ser) SNV Uncertain significance 534925 rs1555243999 11:68682313-68682313 11:68914845-68914845 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.392C>T (p.Thr131Ile) SNV Uncertain significance 540007 rs772202137 9:130223522-130223522 9:127461243-127461243 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.985C>T (p.Arg329Ter) SNV Uncertain significance 526711 rs1215612827 9:94809550-94809550 9:92047268-92047268 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.929C>G (p.Ala310Gly) SNV Uncertain significance 526710 rs768841574 9:94809950-94809950 9:92047668-92047668 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.3(NDRG1):c.1109C>G (p.Ala370Gly) SNV Uncertain significance 543418 rs367925853 8:134251197-134251197 8:133238954-133238954 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.3(NDRG1):c.686A>G (p.Asn229Ser) SNV Uncertain significance 543370 rs137993172 8:134262695-134262695 8:133250452-133250452 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.3(NDRG1):c.1109C>T (p.Ala370Val) SNV Uncertain significance 543428 rs367925853 8:134251197-134251197 8:133238954-133238954 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.4(NEFL):c.1462G>A (p.Glu488Lys) SNV Uncertain significance 533511 rs773570365 8:24811016-24811016 8:24953503-24953503 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.491C>T (p.Ala164Val) SNV Uncertain significance 549490 rs1553142699 1:12057370-12057370 1:11997313-11997313 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.299C>G (p.Ala100Gly) SNV Uncertain significance 546588 rs1553141707 1:12052735-12052735 1:11992678-11992678 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.3866G>A (p.Arg1289Gln) SNV Uncertain significance 546658 rs757836523 11:9838499-9838499 11:9816952-9816952 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*3024G>A SNV Uncertain significance 543314 rs1322545345 19:40901440-40901440 19:40395533-40395533 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.559A>G (p.Lys187Glu) SNV Uncertain significance 543925 rs1555937244 X:70444116-70444116 X:71224266-71224266 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.658C>G (p.Arg220Gly) SNV Uncertain significance 543923 rs104894814 X:70444215-70444215 X:71224365-71224365 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*4512G>A SNV Uncertain significance 543355 rs368827070 19:40899952-40899952 19:40394045-40394045 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*4506G>A SNV Uncertain significance 543420 rs759435622 19:40899958-40899958 19:40394051-40394051 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.661T>C (p.Ser221Pro) SNV Uncertain significance 579613 rs747024391 5:148421049-148421049 5:149041486-149041486 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1768G>A (p.Ala590Thr) SNV Uncertain significance 565871 rs149244124 5:148407527-148407527 5:149027964-149027964 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1318C>T (p.Arg440Cys) SNV Uncertain significance 583032 rs768012192 5:148407977-148407977 5:149028414-149028414 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.385+3A>G SNV Uncertain significance 568124 rs184593694 5:148424093-148424093 5:149044530-149044530 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.279+4A>G SNV Uncertain significance 572945 rs371909418 5:148427421-148427421 5:149047858-149047858 CHR071 Charcot-Marie-Tooth Disease DNAJB2 NM_006736.6(DNAJB2):c.493C>T (p.Arg165Cys) SNV Uncertain significance 573941 rs544935330 2:220147902-220147902 2:219283180-219283180 CHR071 Charcot-Marie-Tooth Disease TFG NM_006070.6(TFG):c.826T>C (p.Tyr276His) SNV Uncertain significance 576156 rs1559726842 3:100466998-100466998 3:100748154-100748154 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.364G>A (p.Gly122Ser) SNV Uncertain significance 581650 rs780988351 7:75932393-75932393 7:76303076-76303076 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.1837G>A (p.Val613Ile) SNV Uncertain significance 571041 rs746831085 9:130259538-130259538 9:127497259-127497259 CHR071 Charcot-Marie-Tooth Disease SCN11A NM_001349253.2(SCN11A):c.2095G>A (p.Gly699Arg) SNV Uncertain significance 582088 rs145734191 3:38938644-38938644 3:38897153-38897153 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.845G>A (p.Arg282His) SNV Uncertain significance 574996 rs375431837 8:75276370-75276370 8:74364135-74364135 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.1385C>A (p.Ser462Tyr) SNV Uncertain significance 582614 rs150792865 9:94794784-94794784 9:92032502-92032502 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.271G>A (p.Glu91Lys) SNV Uncertain significance 580756 rs1383238492 1:161276675-161276675 1:161306885-161306885 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.547T>C (p.Trp183Arg) SNV Uncertain significance 581905 rs753107323 1:161276156-161276156 1:161306366-161306366 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1271A>G (p.Glu424Gly) SNV Uncertain significance 571365 rs1557530247 1:12064159-12064159 1:12004102-12004102 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.2129T>C (p.Leu710Pro) SNV Uncertain significance 575589 rs1557537223 1:12069708-12069708 1:12009651-12009651 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1127T>G (p.Met376Arg) SNV Uncertain significance 637292 1:12062127-12062127 1:12002070-12002070 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1132T>C (p.Ser378Pro) SNV Uncertain significance 637717 1:12062132-12062132 1:12002075-12002075 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1134_1142del (p.Leu379_Met381del) deletion Uncertain significance 637435 1:12062134-12062142 1:12002077-12002085 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1157_1158inv (p.Gln386Pro) inversion Uncertain significance 637310 1:12062157-12062158 1:12002100-12002101 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1168T>C (p.Cys390Arg) SNV Uncertain significance 637935 1:12064056-12064056 1:12003999-12003999 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1169G>T (p.Cys390Phe) SNV Uncertain significance 637297 1:12064057-12064057 1:12004000-12004000 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1199G>C (p.Arg400Pro) SNV Uncertain significance 637281 1:12064087-12064087 1:12004030-12004030 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1453G>A (p.Ala485Thr) SNV Uncertain significance 637720 1:12064942-12064942 1:12004885-12004885 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1487A>G (p.Asp496Gly) SNV Uncertain significance 637747 1:12064976-12064976 1:12004919-12004919 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1556G>C (p.Arg519Pro) SNV Uncertain significance 637743 1:12065828-12065828 1:12005771-12005771 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1709A>G (p.Asn570Ser) SNV Uncertain significance 637934 1:12065981-12065981 1:12005924-12005924 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1772_1773del (p.Gln591fs) deletion Uncertain significance 637734 1:12066650-12066651 1:12006593-12006594 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1835C>A (p.Ser612Tyr) SNV Uncertain significance 637293 1:12066713-12066713 1:12006656-12006656 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1910C>T (p.Ser637Phe) SNV Uncertain significance 637714 1:12067147-12067147 1:12007090-12007090 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1921T>C (p.Tyr641His) SNV Uncertain significance 637740 1:12067158-12067158 1:12007101-12007101 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1984A>G (p.Lys662Glu) SNV Uncertain significance 637715 1:12067221-12067221 1:12007164-12007164 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1994T>C (p.Phe665Ser) SNV Uncertain significance 637061 1:12067231-12067231 1:12007174-12007174 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.2018T>C (p.Leu673Pro) SNV Uncertain significance 637748 1:12067255-12067255 1:12007198-12007198 CHR071 Charcot-Marie-Tooth Disease MYH14 NM_001145809.2(MYH14):c.3514C>T (p.Arg1172Trp) SNV Uncertain significance 636304 19:50779294-50779294 19:50276037-50276037 CHR071 Charcot-Marie-Tooth Disease NGF NM_002506.2(NGF):c.681_682del (p.Ala228fs) deletion Uncertain significance 637471 1:115828735-115828736 1:115286114-115286115 CHR071 Charcot-Marie-Tooth Disease NGF NM_002506.2(NGF):c.680C>A (p.Thr227Lys) SNV Uncertain significance 637470 1:115828737-115828737 1:115286116-115286116 CHR071 Charcot-Marie-Tooth Disease NGF NM_002506.2(NGF):c.560G>A (p.Ser187Asn) SNV Uncertain significance 637364 1:115828857-115828857 1:115286236-115286236 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.30dup (p.Ile11fs) duplication Uncertain significance 637294 1:12049254-12049255 1:11989197-11989198 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.61A>G (p.Met21Val) SNV Uncertain significance 637306 1:12049286-12049286 1:11989229-11989229 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.134A>G (p.Gln45Arg) SNV Uncertain significance 637287 1:12049359-12049359 1:11989302-11989302 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.193G>T (p.Glu65Ter) SNV Uncertain significance 637749 1:12052629-12052629 1:11992572-11992572 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.787T>C (p.Ser263Pro) SNV Uncertain significance 637732 1:12059123-12059123 1:11999066-11999066 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.821G>A (p.Arg274Gln) SNV Uncertain significance 637300 1:12061462-12061462 1:12001405-12001405 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.828G>C (p.Gln276His) SNV Uncertain significance 637728 1:12061469-12061469 1:12001412-12001412 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.829C>T (p.His277Tyr) SNV Uncertain significance 637722 1:12061470-12061470 1:12001413-12001413 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.851T>A (p.Phe284Tyr) SNV Uncertain significance 637301 1:12061492-12061492 1:12001435-12001435 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.864G>C (p.Glu288Asp) SNV Uncertain significance 637284 1:12061505-12061505 1:12001448-12001448 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.922G>T (p.Glu308Ter) SNV Uncertain significance 637744 1:12061563-12061563 1:12001506-12001506 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.986_988del (p.Glu329del) deletion Uncertain significance 637286 1:12061839-12061841 1:12001782-12001784 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1040A>T (p.Glu347Val) SNV Uncertain significance 637296 1:12062040-12062040 1:12001983-12001983 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1048T>C (p.Ser350Pro) SNV Uncertain significance 637729 1:12062048-12062048 1:12001991-12001991 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1066A>G (p.Thr356Ala) SNV Uncertain significance 637313 1:12062066-12062066 1:12002009-12002009 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1081C>T (p.His361Tyr) SNV Uncertain significance 637315 1:12062081-12062081 1:12002024-12002024 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1126A>C (p.Met376Leu) SNV Uncertain significance 637737 1:12062126-12062126 1:12002069-12002069 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.239G>T (p.Gly80Val) SNV Uncertain significance 637288 1:12052675-12052675 1:11992618-11992618 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.250A>G (p.Lys84Glu) SNV Uncertain significance 637742 1:12052686-12052686 1:11992629-11992629 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.1835C>T (p.Thr612Ile) SNV Uncertain significance 634606 rs780595685 6:110098209-110098209 6:109777006-109777006 CHR071 Charcot-Marie-Tooth Disease NTRK1 NM_002529.3(NTRK1):c.2308C>T (p.Gln770Ter) SNV Uncertain significance 637367 1:156851351-156851351 1:156881559-156881559 CHR071 Charcot-Marie-Tooth Disease NTRK1 NM_001007792.1(NTRK1):c.2220dup (p.Val741fs) duplication Uncertain significance 637431 1:156851370-156851371 1:156881578-156881579 CHR071 Charcot-Marie-Tooth Disease NTRK1 NM_002529.3(NTRK1):c.2344C>T (p.Gln782Ter) SNV Uncertain significance 637816 1:156851387-156851387 1:156881595-156881595 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.742A>T (p.Lys248Ter) SNV Uncertain significance 637339 1:161275671-161275671 1:161305881-161305881 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.736G>A (p.Asp246Asn) SNV Uncertain significance 637929 1:161275677-161275677 1:161305887-161305887 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.706A>G (p.Lys236Glu) SNV Uncertain significance 637766 1:161275707-161275707 1:161305917-161305917 CHR071 Charcot-Marie-Tooth Disease NTRK1 NM_002529.3(NTRK1):c.722dup (p.Gly242fs) duplication Uncertain significance 637894 1:156841418-156841419 1:156871626-156871627 CHR071 Charcot-Marie-Tooth Disease NTRK1 NM_002529.3(NTRK1):c.924_930del (p.Gln308fs) deletion Uncertain significance 637912 1:156843494-156843500 1:156873702-156873708 CHR071 Charcot-Marie-Tooth Disease NTRK1 NM_002529.3(NTRK1):c.1162G>A (p.Glu388Lys) SNV Uncertain significance 637486 1:156843736-156843736 1:156873944-156873944 CHR071 Charcot-Marie-Tooth Disease NTRK1 NM_002529.3(NTRK1):c.1551_1552insACATCGGG (p.Glu518fs) insertion Uncertain significance 637436 1:156845918-156845919 1:156876126-156876127 CHR071 Charcot-Marie-Tooth Disease NTRK1 NM_002529.3(NTRK1):c.1555G>C (p.Gly519Arg) SNV Uncertain significance 637366 1:156845925-156845925 1:156876133-156876133 CHR071 Charcot-Marie-Tooth Disease NTRK1 NM_002529.3(NTRK1):c.1564G>A (p.Gly522Arg) SNV Uncertain significance 637428 1:156845934-156845934 1:156876142-156876142 CHR071 Charcot-Marie-Tooth Disease NTRK1 NM_002529.3(NTRK1):c.1690C>T (p.Leu564Phe) SNV Uncertain significance 637469 1:156846249-156846249 1:156876457-156876457 CHR071 Charcot-Marie-Tooth Disease NTRK1 NM_002529.3(NTRK1):c.1733T>G (p.Val578Gly) SNV Uncertain significance 637437 1:156846292-156846292 1:156876500-156876500 CHR071 Charcot-Marie-Tooth Disease NTRK1 NM_002529.3(NTRK1):c.1754del (p.Leu585fs) deletion Uncertain significance 637429 1:156846313-156846313 1:156876521-156876521 CHR071 Charcot-Marie-Tooth Disease NTRK1 NM_002529.3(NTRK1):c.1867G>T (p.Gly623Cys) SNV Uncertain significance 637476 1:156848975-156848975 1:156879183-156879183 CHR071 Charcot-Marie-Tooth Disease NTRK1 NM_002529.3(NTRK1):c.1895_1896insA (p.Ser632fs) insertion Uncertain significance 637438 1:156849003-156849004 1:156879211-156879212 CHR071 Charcot-Marie-Tooth Disease NTRK1 NM_002529.3(NTRK1):c.1946G>T (p.Arg649Leu) SNV Uncertain significance 637474 1:156849054-156849054 1:156879262-156879262 CHR071 Charcot-Marie-Tooth Disease NTRK1 NM_002529.3(NTRK1):c.1960C>T (p.Arg654Cys) SNV Uncertain significance 637430 1:156849068-156849068 1:156879276-156879276 CHR071 Charcot-Marie-Tooth Disease NTRK1 NM_002529.3(NTRK1):c.2289C>G (p.Cys763Trp) SNV Uncertain significance 637911 1:156851332-156851332 1:156881540-156881540 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.2116A>C (p.Thr706Pro) SNV Uncertain significance 637735 1:12069695-12069695 1:12009638-12009638 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.2120G>C (p.Arg707Pro) SNV Uncertain significance 637750 1:12069699-12069699 1:12009642-12009642 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.2140A>G (p.Ile714Val) SNV Uncertain significance 637282 1:12069719-12069719 1:12009662-12009662 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.2200C>G (p.Leu734Val) SNV Uncertain significance 637062 1:12069779-12069779 1:12009722-12009722 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.2213C>T (p.Ala738Val) SNV Uncertain significance 637283 1:12071561-12071561 1:12011504-12011504 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.2218T>C (p.Trp740Arg) SNV Uncertain significance 637308 1:12071566-12071566 1:12011509-12011509 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.2220G>C (p.Trp740Cys) SNV Uncertain significance 637723 1:12071568-12071568 1:12011511-12011511 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.2229T>A (p.Ser743Arg) SNV Uncertain significance 637716 1:12071577-12071577 1:12011520-12011520 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.2230_2231delinsAT (p.Glu744Met) indel Uncertain significance 637305 1:12071578-12071579 1:12011521-12011522 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.2234T>C (p.Leu745Pro) SNV Uncertain significance 637724 1:12071582-12071582 1:12011525-12011525 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.2240T>C (p.Met747Thr) SNV Uncertain significance 637725 1:12071588-12071588 1:12011531-12011531 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.2249A>C (p.His750Pro) SNV Uncertain significance 637298 1:12071597-12071597 1:12011540-12011540 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.2258dup (p.Gln754fs) duplication Uncertain significance 637433 1:12071605-12071606 1:12011548-12011549 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1928C>A (p.Thr643Asn) SNV Uncertain significance 637938 1:156108508-156108508 1:156138717-156138717 CHR071 Charcot-Marie-Tooth Disease NTRK1 NM_002529.3(NTRK1):c.496G>T (p.Gly166Ter) SNV Uncertain significance 637369 1:156837963-156837963 1:156868171-156868171 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.431T>C (p.Leu144Pro) SNV Uncertain significance 637328 1:161276515-161276515 1:161306725-161306725 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.428C>G (p.Thr143Arg) SNV Uncertain significance 637761 1:161276518-161276518 1:161306728-161306728 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.421C>T (p.Gln141Ter) SNV Uncertain significance 637361 1:161276525-161276525 1:161306735-161306735 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.416C>A (p.Thr139Asn) SNV Uncertain significance 637333 1:161276530-161276530 1:161306740-161306740 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.414G>C (p.Lys138Asn) SNV Uncertain significance 637332 1:161276532-161276532 1:161306742-161306742 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.410G>T (p.Gly137Val) SNV Uncertain significance 637793 1:161276536-161276536 1:161306746-161306746 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.410G>C (p.Gly137Ala) SNV Uncertain significance 637317 1:161276536-161276536 1:161306746-161306746 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.405A>G (p.Ile135Met) SNV Uncertain significance 637778 1:161276541-161276541 1:161306751-161306751 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.402C>A (p.Asp134Glu) SNV Uncertain significance 637347 1:161276544-161276544 1:161306754-161306754 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.401A>G (p.Asp134Gly) SNV Uncertain significance 637331 1:161276545-161276545 1:161306755-161306755 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.397C>T (p.Pro133Ser) SNV Uncertain significance 637337 1:161276549-161276549 1:161306759-161306759 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.396_397del (p.Pro133fs) deletion Uncertain significance 637795 1:161276549-161276550 1:161306759-161306760 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.395C>T (p.Pro132Leu) SNV Uncertain significance 637355 1:161276551-161276551 1:161306761-161306761 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.394C>A (p.Pro132Thr) SNV Uncertain significance 637760 1:161276552-161276552 1:161306762-161306762 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.392A>G (p.Asn131Ser) SNV Uncertain significance 637784 1:161276554-161276554 1:161306764-161306764 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.391A>T (p.Asn131Tyr) SNV Uncertain significance 637359 1:161276555-161276555 1:161306765-161306765 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.384C>G (p.Asp128Glu) SNV Uncertain significance 637785 1:161276562-161276562 1:161306772-161306772 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.383A>G (p.Asp128Gly) SNV Uncertain significance 637326 1:161276563-161276563 1:161306773-161306773 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.368_382del (p.Gly123_Cys127del) deletion Uncertain significance 637487 1:161276564-161276578 1:161306774-161306788 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.370A>G (p.Thr124Ala) SNV Uncertain significance 637782 1:161276576-161276576 1:161306786-161306786 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.368G>T (p.Gly123Val) SNV Uncertain significance 637790 1:161276578-161276578 1:161306788-161306788 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.367G>T (p.Gly123Cys) SNV Uncertain significance 637358 1:161276579-161276579 1:161306789-161306789 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.365A>G (p.Asn122Ser) SNV Uncertain significance 637754 1:161276581-161276581 1:161306791-161306791 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.352G>A (p.Asp118Asn) SNV Uncertain significance 637765 1:161276594-161276594 1:161306804-161306804 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.342A>G (p.Ile114Met) SNV Uncertain significance 637796 1:161276604-161276604 1:161306814-161306814 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.332C>T (p.Ser111Phe) SNV Uncertain significance 637801 1:161276614-161276614 1:161306824-161306824 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.329G>A (p.Gly110Asp) SNV Uncertain significance 637321 1:161276617-161276617 1:161306827-161306827 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.327T>A (p.Asp109Glu) SNV Uncertain significance 637798 1:161276619-161276619 1:161306829-161306829 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.243C>G (p.His81Gln) SNV Uncertain significance 637768 1:161276703-161276703 1:161306913-161306913 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.554del (p.Arg185fs) deletion Uncertain significance 637756 1:161276149-161276149 1:161306359-161306359 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.553del (p.Arg185fs) deletion Uncertain significance 637342 1:161276150-161276150 1:161306360-161306360 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.550_552delinsG (p.Leu184fs) indel Uncertain significance 637357 1:161276151-161276153 1:161306361-161306363 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.543C>G (p.Tyr181Ter) SNV Uncertain significance 637346 1:161276160-161276160 1:161306370-161306370 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.462C>A (p.Tyr154Ter) SNV Uncertain significance 637345 1:161276241-161276241 1:161306451-161306451 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.437T>G (p.Val146Gly) SNV Uncertain significance 637762 1:161276509-161276509 1:161306719-161306719 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.436G>T (p.Val146Phe) SNV Uncertain significance 637789 1:161276510-161276510 1:161306720-161306720 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.570del (p.Gln191fs) deletion Uncertain significance 637771 1:161276133-161276133 1:161306343-161306343 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.560_566del (p.Gln187fs) deletion Uncertain significance 637779 1:161276137-161276143 1:161306347-161306353 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.275T>G (p.Leu92Arg) SNV Uncertain significance 637736 1:12052711-12052711 1:11992654-11992654 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.679A>T (p.Arg227Ter) SNV Uncertain significance 637791 1:161275734-161275734 1:161305944-161305944 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.679A>G (p.Arg227Gly) SNV Uncertain significance 637802 1:161275734-161275734 1:161305944-161305944 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.645+2dup duplication Uncertain significance 637484 1:161275894-161275895 1:161306104-161306105 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.626_630del (p.Ala209fs) deletion Uncertain significance 637318 1:161275913-161275917 1:161306123-161306127 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.616G>T (p.Gly206Ter) SNV Uncertain significance 637800 1:161275927-161275927 1:161306137-161306137 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.578G>A (p.Arg193Lys) SNV Uncertain significance 637338 1:161276125-161276125 1:161306335-161306335 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.-10_-6dup duplication Uncertain significance 637353 1:161279700-161279701 1:161309910-161309911 CHR071 Charcot-Marie-Tooth Disease ARF1 NM_001658.4(ARF1):c.293A>C (p.Glu98Ala) SNV Uncertain significance 637362 1:228285325-228285325 1:228097624-228097624 CHR071 Charcot-Marie-Tooth Disease ARF1 NM_001658.4(ARF1):c.293A>G (p.Glu98Gly) SNV Uncertain significance 637363 1:228285325-228285325 1:228097624-228097624 CHR071 Charcot-Marie-Tooth Disease SCN9A NM_001365536.1(SCN9A):c.4629G>A (p.Met1543Ile) SNV Uncertain significance 637861 2:167060610-167060610 2:166204100-166204100 CHR071 Charcot-Marie-Tooth Disease DCTN1 NM_004082.4(DCTN1):c.2009A>T (p.Tyr670Phe) SNV Uncertain significance 637070 2:74595104-74595104 2:74367977-74367977 CHR071 Charcot-Marie-Tooth Disease DCTN1 NM_004082.4(DCTN1):c.1270G>C (p.Asp424His) SNV Uncertain significance 637069 2:74597330-74597330 2:74370203-74370203 CHR071 Charcot-Marie-Tooth Disease REEP1 NM_001371279.1(REEP1):c.103T>A (p.Tyr35Asn) SNV Uncertain significance 637850 2:86509295-86509295 2:86282172-86282172 CHR071 Charcot-Marie-Tooth Disease RAB7A NM_004637.5(RAB7A):c.482A>T (p.Asn161Ile) SNV Uncertain significance 637404 3:128526468-128526468 3:128807625-128807625 CHR071 Charcot-Marie-Tooth Disease SCN11A NM_001349253.2(SCN11A):c.2524G>C (p.Ala842Pro) SNV Uncertain significance 637859 3:38936335-38936335 3:38894844-38894844 CHR071 Charcot-Marie-Tooth Disease SCN11A NM_001349253.2(SCN11A):c.2042C>A (p.Ala681Asp) SNV Uncertain significance 637858 3:38938697-38938697 3:38897206-38897206 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3233_3234delAG short repeat Uncertain significance 637868 5:148389926-148389927 5:149010363-149010364 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.136G>A (p.Val46Met) SNV Uncertain significance 637927 1:161277146-161277146 1:161307356-161307356 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.131C>G (p.Ser44Cys) SNV Uncertain significance 637348 1:161277151-161277151 1:161307361-161307361 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.128G>T (p.Gly43Val) SNV Uncertain significance 637334 1:161277154-161277154 1:161307364-161307364 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.101C>T (p.Thr34Ile) SNV Uncertain significance 637323 1:161277181-161277181 1:161307391-161307391 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.98A>T (p.Tyr33Phe) SNV Uncertain significance 637341 1:161277184-161277184 1:161307394-161307394 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.94G>T (p.Val32Phe) SNV Uncertain significance 637434 1:161277188-161277188 1:161307398-161307398 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.89T>G (p.Ile30Ser) SNV Uncertain significance 637340 1:161277193-161277193 1:161307403-161307403 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.59C>T (p.Ser20Phe) SNV Uncertain significance 637322 1:161279637-161279637 1:161309847-161309847 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.194C>T (p.Thr65Ile) SNV Uncertain significance 637788 1:161277088-161277088 1:161307298-161307298 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.194C>A (p.Thr65Asn) SNV Uncertain significance 637928 1:161277088-161277088 1:161307298-161307298 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.173T>A (p.Val58Asp) SNV Uncertain significance 637777 1:161277109-161277109 1:161307319-161307319 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.166G>A (p.Glu56Lys) SNV Uncertain significance 637772 1:161277116-161277116 1:161307326-161307326 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.161C>G (p.Ser54Cys) SNV Uncertain significance 637324 1:161277121-161277121 1:161307331-161307331 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.160T>C (p.Ser54Pro) SNV Uncertain significance 637319 1:161277122-161277122 1:161307332-161307332 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.149_151del (p.Cys50del) deletion Uncertain significance 637351 1:161277131-161277133 1:161307341-161307343 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.150C>G (p.Cys50Trp) SNV Uncertain significance 637336 1:161277132-161277132 1:161307342-161307342 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.148T>G (p.Cys50Gly) SNV Uncertain significance 637343 1:161277134-161277134 1:161307344-161307344 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.143T>C (p.Leu48Pro) SNV Uncertain significance 637356 1:161277139-161277139 1:161307349-161307349 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.143T>A (p.Leu48Gln) SNV Uncertain significance 637758 1:161277139-161277139 1:161307349-161307349 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.142C>G (p.Leu48Val) SNV Uncertain significance 637335 1:161277140-161277140 1:161307350-161307350 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.290_293del (p.Glu97fs) deletion Uncertain significance 637763 1:161276653-161276656 1:161306863-161306866 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.292C>A (p.Arg98Ser) SNV Uncertain significance 637360 1:161276654-161276654 1:161306864-161306864 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.278G>C (p.Gly93Ala) SNV Uncertain significance 637316 1:161276668-161276668 1:161306878-161306878 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.245A>C (p.Tyr82Ser) SNV Uncertain significance 637783 1:161276701-161276701 1:161306911-161306911 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.242A>T (p.His81Leu) SNV Uncertain significance 637780 1:161276704-161276704 1:161306914-161306914 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.227C>T (p.Ala76Val) SNV Uncertain significance 637344 1:161277055-161277055 1:161307265-161307265 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.223del (p.Asp75fs) deletion Uncertain significance 637786 1:161277059-161277059 1:161307269-161307269 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.211G>T (p.Glu71Ter) SNV Uncertain significance 637773 1:161277071-161277071 1:161307281-161307281 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.209C>T (p.Pro70Leu) SNV Uncertain significance 637787 1:161277073-161277073 1:161307283-161307283 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.208C>T (p.Pro70Ser) SNV Uncertain significance 637776 1:161277074-161277074 1:161307284-161307284 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.145G>T (p.Glu49Ter) SNV Uncertain significance 637399 19:40909652-40909652 19:40403745-40403745 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.70T>C (p.Trp24Arg) SNV Uncertain significance 637226 X:70443627-70443627 X:71223777-71223777 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.72G>T (p.Trp24Cys) SNV Uncertain significance 637189 X:70443629-70443629 X:71223779-71223779 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*1844C>T SNV Uncertain significance 637482 19:40902620-40902620 19:40396713-40396713 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*1132T>G SNV Uncertain significance 637494 19:40903332-40903332 19:40397425-40397425 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*1129A>T SNV Uncertain significance 637493 19:40903335-40903335 19:40397428-40397428 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*1120_*1128dup duplication Uncertain significance 637492 19:40903335-40903336 19:40397428-40397429 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*1080_*1111del deletion Uncertain significance 637491 19:40903353-40903384 19:40397446-40397477 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*978_*979dup duplication Uncertain significance 637397 19:40903484-40903485 19:40397577-40397578 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.730del (p.Ala244fs) deletion Uncertain significance 637847 19:40903529-40903529 19:40397622-40397622 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.642dup (p.Arg215fs) duplication Uncertain significance 637943 19:40903616-40903617 19:40397709-40397710 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*794G>T SNV Uncertain significance 637403 19:40903670-40903670 19:40397763-40397763 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.31A>G (p.Ser11Gly) SNV Uncertain significance 637204 X:70443588-70443588 X:71223738-71223738 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.37G>A (p.Val13Met) SNV Uncertain significance 637129 X:70443594-70443594 X:71223744-71223744 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.41A>G (p.Asn14Ser) SNV Uncertain significance 637679 X:70443598-70443598 X:71223748-71223748 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.43del (p.Arg15fs) deletion Uncertain significance 637680 X:70443599-70443599 X:71223749-71223749 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.42_43insT (p.Arg15fs) insertion Uncertain significance 637607 X:70443599-70443600 X:71223749-71223750 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.44_45delinsTT (p.Arg15Leu) indel Uncertain significance 637673 X:70443601-70443602 X:71223751-71223752 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.47A>C (p.His16Pro) SNV Uncertain significance 637130 X:70443604-70443604 X:71223754-71223754 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.47A>T (p.His16Leu) SNV Uncertain significance 637615 X:70443604-70443604 X:71223754-71223754 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.48T>G (p.His16Gln) SNV Uncertain significance 637613 X:70443605-70443605 X:71223755-71223755 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.50C>A (p.Ser17Tyr) SNV Uncertain significance 637146 X:70443607-70443607 X:71223757-71223757 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.59T>A (p.Ile20Asn) SNV Uncertain significance 637920 X:70443616-70443616 X:71223766-71223766 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.59T>G (p.Ile20Ser) SNV Uncertain significance 637131 X:70443616-70443616 X:71223766-71223766 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.61G>A (p.Gly21Ser) SNV Uncertain significance 637921 X:70443618-70443618 X:71223768-71223768 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.62del (p.Gly21fs) deletion Uncertain significance 637232 X:70443618-70443618 X:71223768-71223768 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.62G>A (p.Gly21Asp) SNV Uncertain significance 637132 X:70443619-70443619 X:71223769-71223769 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.62G>T (p.Gly21Val) SNV Uncertain significance 637225 X:70443619-70443619 X:71223769-71223769 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.64C>G (p.Arg22Gly) SNV Uncertain significance 637665 X:70443621-70443621 X:71223771-71223771 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.65G>C (p.Arg22Pro) SNV Uncertain significance 637666 X:70443622-70443622 X:71223772-71223772 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.3099del (p.Glu1034fs) deletion Uncertain significance 637394 19:40901160-40901160 19:40395253-40395253 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*2949A>T SNV Uncertain significance 637849 19:40901515-40901515 19:40395608-40395608 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*2756_*2757TC[1] short repeat Uncertain significance 637401 19:40901703-40901706 19:40395796-40395799 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.2421del (p.Lys808fs) deletion Uncertain significance 637396 19:40901838-40901838 19:40395931-40395931 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*2249G>T SNV Uncertain significance 637395 19:40902215-40902215 19:40396308-40396308 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.318del (p.Gly107fs) deletion Uncertain significance 637826 17:15142789-15142789 17:15239472-15239472 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.314T>G (p.Leu105Arg) SNV Uncertain significance 637385 17:15142793-15142793 17:15239476-15239476 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.312del (p.Ala106fs) deletion Uncertain significance 637388 17:15142795-15142795 17:15239478-15239478 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.297del (p.Gly100fs) deletion Uncertain significance 637379 17:15142810-15142810 17:15239493-15239493 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.289del (p.Tyr97fs) deletion Uncertain significance 637846 17:15142818-15142818 17:15239501-15239501 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.277G>C (p.Gly93Arg) SNV Uncertain significance 637390 17:15142830-15142830 17:15239513-15239513 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.53T>G (p.Leu18Arg) SNV Uncertain significance 637373 17:15163992-15163992 17:15260675-15260675 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.11del (p.Leu4fs) deletion Uncertain significance 637380 17:15164034-15164034 17:15260717-15260717 CHR071 Charcot-Marie-Tooth Disease DNMT1 NM_001130823.3(DNMT1):c.1706A>G (p.His569Arg) SNV Uncertain significance 637076 19:10265388-10265388 19:10154712-10154712 CHR071 Charcot-Marie-Tooth Disease DNMT1 NM_001130823.3(DNMT1):c.1559_1561AGA[1] (p.Lys521del) short repeat Uncertain significance 637075 19:10265661-10265663 19:10154985-10154987 CHR071 Charcot-Marie-Tooth Disease DNMT1 NM_001130823.3(DNMT1):c.1520C>G (p.Pro507Arg) SNV Uncertain significance 637074 19:10265705-10265705 19:10155029-10155029 CHR071 Charcot-Marie-Tooth Disease DNM2 NM_004945.3(DNM2):c.1663_1665del (p.Lys555del) deletion Uncertain significance 637071 19:10930659-10930661 19:10819983-10819985 CHR071 Charcot-Marie-Tooth Disease DNM2 NM_004945.3(DNM2):c.1669_1671AAG[1] (p.Lys558del) short repeat Uncertain significance 637073 19:10930663-10930665 19:10819987-10819989 CHR071 Charcot-Marie-Tooth Disease DNM2 NM_001005360.2(DNM2):c.1739T>C (p.Met580Thr) SNV Uncertain significance 637072 19:10930723-10930723 19:10820047-10820047 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*3977_*3978delinsA indel Uncertain significance 637848 19:40900486-40900487 19:40394579-40394580 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.116_117del (p.Lys39fs) deletion Uncertain significance 637400 19:40909680-40909681 19:40403773-40403774 CHR071 Charcot-Marie-Tooth Disease SOX10 NM_006941.3(SOX10):c.1037C>G (p.Ser346Ter) SNV Uncertain significance 637874 22:38369866-38369866 22:37973859-37973859 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.1A>T (p.Met1Leu) SNV Uncertain significance 637219 X:70443558-70443558 X:71223708-71223708 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.2T>G (p.Met1Arg) SNV Uncertain significance 637588 X:70443559-70443559 X:71223709-71223709 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.3G>T (p.Met1Ile) SNV Uncertain significance 637622 X:70443560-70443560 X:71223710-71223710 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.6C>G (p.Asn2Lys) SNV Uncertain significance 637157 X:70443563-70443563 X:71223713-71223713 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.7T>C (p.Trp3Arg) SNV Uncertain significance 637174 X:70443564-70443564 X:71223714-71223714 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.7T>G (p.Trp3Gly) SNV Uncertain significance 637197 X:70443564-70443564 X:71223714-71223714 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.11C>A (p.Thr4Lys) SNV Uncertain significance 637642 X:70443568-70443568 X:71223718-71223718 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.13G>A (p.Gly5Ser) SNV Uncertain significance 637617 X:70443570-70443570 X:71223720-71223720 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.20A>G (p.Tyr7Cys) SNV Uncertain significance 637220 X:70443577-70443577 X:71223727-71223727 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.22A>C (p.Thr8Pro) SNV Uncertain significance 637599 X:70443579-70443579 X:71223729-71223729 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.23C>T (p.Thr8Ile) SNV Uncertain significance 637160 X:70443580-70443580 X:71223730-71223730 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.26T>G (p.Leu9Trp) SNV Uncertain significance 637214 X:70443583-70443583 X:71223733-71223733 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.27G>T (p.Leu9Phe) SNV Uncertain significance 637145 X:70443584-70443584 X:71223734-71223734 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.74T>C (p.Leu25Pro) SNV Uncertain significance 637648 X:70443631-70443631 X:71223781-71223781 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.77del (p.Ser26fs) deletion Uncertain significance 637619 X:70443634-70443634 X:71223784-71223784 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.77C>A (p.Ser26Ter) SNV Uncertain significance 637205 X:70443634-70443634 X:71223784-71223784 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.80T>C (p.Val27Ala) SNV Uncertain significance 637560 X:70443637-70443637 X:71223787-71223787 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.84del (p.Phe29fs) deletion Uncertain significance 637632 X:70443641-70443641 X:71223791-71223791 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.85T>C (p.Phe29Leu) SNV Uncertain significance 637427 X:70443642-70443642 X:71223792-71223792 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.115del (p.Ala39fs) deletion Uncertain significance 637877 X:70443671-70443671 X:71223821-71223821 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.94A>G (p.Arg32Gly) SNV Uncertain significance 637614 X:70443651-70443651 X:71223801-71223801 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.98T>A (p.Ile33Asn) SNV Uncertain significance 637634 X:70443655-70443655 X:71223805-71223805 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.101T>A (p.Met34Lys) SNV Uncertain significance 637636 X:70443658-70443658 X:71223808-71223808 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.103G>A (p.Val35Met) SNV Uncertain significance 637583 X:70443660-70443660 X:71223810-71223810 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.107T>C (p.Leu36Pro) SNV Uncertain significance 637627 X:70443664-70443664 X:71223814-71223814 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.109G>A (p.Val37Met) SNV Uncertain significance 637169 X:70443666-70443666 X:71223816-71223816 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.110del (p.Val37fs) deletion Uncertain significance 637196 X:70443667-70443667 X:71223817-71223817 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.113T>C (p.Val38Ala) SNV Uncertain significance 637179 X:70443670-70443670 X:71223820-71223820 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.114_115insC (p.Ala39fs) insertion Uncertain significance 637876 X:70443671-70443672 X:71223821-71223822 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.115G>C (p.Ala39Pro) SNV Uncertain significance 637592 X:70443672-70443672 X:71223822-71223822 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.116del (p.Ala39fs) deletion Uncertain significance 637153 X:70443673-70443673 X:71223823-71223823 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.116C>G (p.Ala39Gly) SNV Uncertain significance 637603 X:70443673-70443673 X:71223823-71223823 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.118G>A (p.Ala40Thr) SNV Uncertain significance 637198 X:70443675-70443675 X:71223825-71223825 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.121G>A (p.Glu41Lys) SNV Uncertain significance 637133 X:70443678-70443678 X:71223828-71223828 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.124A>T (p.Ser42Cys) SNV Uncertain significance 637557 X:70443681-70443681 X:71223831-71223831 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.127G>A (p.Val43Met) SNV Uncertain significance 637206 X:70443684-70443684 X:71223834-71223834 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.131G>T (p.Trp44Leu) SNV Uncertain significance 637134 X:70443688-70443688 X:71223838-71223838 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.132G>A (p.Trp44Ter) SNV Uncertain significance 637596 X:70443689-70443689 X:71223839-71223839 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.137A>G (p.Asp46Gly) SNV Uncertain significance 637655 X:70443694-70443694 X:71223844-71223844 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.140A>G (p.Glu47Gly) SNV Uncertain significance 637149 X:70443697-70443697 X:71223847-71223847 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.141_143dup (p.Lys48dup) duplication Uncertain significance 637944 X:70443696-70443697 X:71223846-71223847 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.146C>A (p.Ser49Tyr) SNV Uncertain significance 637683 X:70443703-70443703 X:71223853-71223853 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.155del (p.Ile52fs) deletion Uncertain significance 637646 X:70443712-70443712 X:71223862-71223862 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.157T>A (p.Cys53Ser) SNV Uncertain significance 637150 X:70443714-70443714 X:71223864-71223864 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.158G>A (p.Cys53Tyr) SNV Uncertain significance 637227 X:70443715-70443715 X:71223865-71223865 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.158G>C (p.Cys53Ser) SNV Uncertain significance 637246 X:70443715-70443715 X:71223865-71223865 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.164C>G (p.Thr55Arg) SNV Uncertain significance 637190 X:70443721-70443721 X:71223871-71223871 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.166C>T (p.Leu56Phe) SNV Uncertain significance 637185 X:70443723-70443723 X:71223873-71223873 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.171G>C (p.Gln57His) SNV Uncertain significance 637170 X:70443728-70443728 X:71223878-71223878 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.173C>G (p.Pro58Arg) SNV Uncertain significance 637239 X:70443730-70443730 X:71223880-71223880 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.175G>T (p.Gly59Cys) SNV Uncertain significance 637600 X:70443732-70443732 X:71223882-71223882 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.179G>T (p.Cys60Phe) SNV Uncertain significance 637595 X:70443736-70443736 X:71223886-71223886 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.186C>G (p.Ser62Arg) SNV Uncertain significance 637194 X:70443743-70443743 X:71223893-71223893 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.187G>T (p.Val63Phe) SNV Uncertain significance 637147 X:70443744-70443744 X:71223894-71223894 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.241C>T (p.Leu81Phe) SNV Uncertain significance 637207 X:70443798-70443798 X:71223948-71223948 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.246C>G (p.Ile82Met) SNV Uncertain significance 637249 X:70443803-70443803 X:71223953-71223953 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.248_257del (p.Leu83fs) deletion Uncertain significance 637558 X:70443804-70443813 X:71223954-71223963 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.248T>C (p.Leu83Pro) SNV Uncertain significance 637208 X:70443805-70443805 X:71223955-71223955 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.248T>G (p.Leu83Arg) SNV Uncertain significance 637242 X:70443805-70443805 X:71223955-71223955 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.250G>A (p.Val84Ile) SNV Uncertain significance 637667 X:70443807-70443807 X:71223957-71223957 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.251T>G (p.Val84Gly) SNV Uncertain significance 637229 X:70443808-70443808 X:71223958-71223958 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.254C>T (p.Ser85Phe) SNV Uncertain significance 637136 X:70443811-70443811 X:71223961-71223961 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.256A>G (p.Thr86Ala) SNV Uncertain significance 637674 X:70443813-70443813 X:71223963-71223963 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.256A>T (p.Thr86Ser) SNV Uncertain significance 637138 X:70443813-70443813 X:71223963-71223963 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.257C>A (p.Thr86Asn) SNV Uncertain significance 637137 X:70443814-70443814 X:71223964-71223964 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.257C>T (p.Thr86Ile) SNV Uncertain significance 637616 X:70443814-70443814 X:71223964-71223964 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.259C>T (p.Pro87Ser) SNV Uncertain significance 637177 X:70443816-70443816 X:71223966-71223966 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.260C>T (p.Pro87Leu) SNV Uncertain significance 637139 X:70443817-70443817 X:71223967-71223967 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.268C>G (p.Leu90Val) SNV Uncertain significance 637637 X:70443825-70443825 X:71223975-71223975 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.269T>A (p.Leu90His) SNV Uncertain significance 637186 X:70443826-70443826 X:71223976-71223976 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.272T>G (p.Val91Gly) SNV Uncertain significance 637564 X:70443829-70443829 X:71223979-71223979 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.273_274del (p.Ala92fs) deletion Uncertain significance 637676 X:70443830-70443831 X:71223980-71223981 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.275_276del (p.Ala92fs) deletion Uncertain significance 637677 X:70443832-70443833 X:71223982-71223983 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.277A>G (p.Met93Val) SNV Uncertain significance 637638 X:70443834-70443834 X:71223984-71223984 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.277_278del (p.Met93fs) deletion Uncertain significance 637561 X:70443834-70443835 X:71223984-71223985 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.278T>A (p.Met93Lys) SNV Uncertain significance 637643 X:70443835-70443835 X:71223985-71223985 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.278T>G (p.Met93Arg) SNV Uncertain significance 637250 X:70443835-70443835 X:71223985-71223985 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.280C>G (p.His94Asp) SNV Uncertain significance 637589 X:70443837-70443837 X:71223987-71223987 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.280C>T (p.His94Tyr) SNV Uncertain significance 637580 X:70443837-70443837 X:71223987-71223987 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.191G>C (p.Cys64Ser) SNV Uncertain significance 637586 X:70443748-70443748 X:71223898-71223898 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.191G>T (p.Cys64Phe) SNV Uncertain significance 637248 X:70443748-70443748 X:71223898-71223898 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.193T>C (p.Tyr65His) SNV Uncertain significance 637221 X:70443750-70443750 X:71223900-71223900 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.195T>G (p.Tyr65Ter) SNV Uncertain significance 637562 X:70443752-70443752 X:71223902-71223902 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.196G>A (p.Asp66Asn) SNV Uncertain significance 637684 X:70443753-70443753 X:71223903-71223903 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.196_198del (p.Asp66del) deletion Uncertain significance 637213 X:70443753-70443755 X:71223903-71223905 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.205T>C (p.Phe69Leu) SNV Uncertain significance 637244 X:70443762-70443762 X:71223912-71223912 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.210dup (p.Ile71fs) duplication Uncertain significance 637918 X:70443763-70443764 X:71223913-71223914 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.208C>T (p.Pro70Ser) SNV Uncertain significance 637604 X:70443765-70443765 X:71223915-71223915 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.208_209delinsTT (p.Pro70Phe) indel Uncertain significance 637606 X:70443765-70443766 X:71223915-71223916 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.212T>G (p.Ile71Ser) SNV Uncertain significance 637243 X:70443769-70443769 X:71223919-71223919 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.217del (p.His73fs) deletion Uncertain significance 637593 X:70443772-70443772 X:71223922-71223922 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.220G>A (p.Val74Met) SNV Uncertain significance 637223 X:70443777-70443777 X:71223927-71223927 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.224G>C (p.Arg75Pro) SNV Uncertain significance 637581 X:70443781-70443781 X:71223931-71223931 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.227T>G (p.Leu76Arg) SNV Uncertain significance 637641 X:70443784-70443784 X:71223934-71223934 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.230G>C (p.Trp77Ser) SNV Uncertain significance 637499 X:70443787-70443787 X:71223937-71223937 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.233C>T (p.Ser78Phe) SNV Uncertain significance 637228 X:70443790-70443790 X:71223940-71223940 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.234C>T (p.Ser78=) SNV Uncertain significance 637924 X:70443791-70443791 X:71223941-71223941 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2770C>T (p.His924Tyr) SNV Uncertain significance 637694 11:68705808-68705808 11:68938340-68938340 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2970_2982del (p.Glu990fs) deletion Uncertain significance 637949 11:68707185-68707197 11:68939717-68939729 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.5(MTMR2):c.1749G>A (p.Trp583Ter) SNV Uncertain significance 637810 11:95569333-95569333 11:95836169-95836169 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.6(MTMR2):c.1534del (p.Leu512fs) deletion Uncertain significance 637807 11:95571317-95571317 11:95838153-95838153 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.5(MTMR2):c.1343T>C (p.Leu448Pro) SNV Uncertain significance 637811 11:95578160-95578160 11:95844996-95844996 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.5(MTMR2):c.847C>T (p.Arg283Trp) SNV Uncertain significance 637808 11:95582984-95582984 11:95849820-95849820 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.5(MTMR2):c.841_844del (p.Ile281fs) deletion Uncertain significance 637809 11:95582987-95582990 11:95849823-95849826 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.6(MTMR2):c.324del (p.Asn109fs) deletion Uncertain significance 637805 11:95595469-95595469 11:95862305-95862305 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.5(MTMR2):c.308G>A (p.Gly103Glu) SNV Uncertain significance 637806 11:95595485-95595485 11:95862321-95862321 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.4782T>G (p.Tyr1594Ter) SNV Uncertain significance 637853 11:9810806-9810806 11:9789259-9789259 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.4299G>C (p.Arg1433Ser) SNV Uncertain significance 637852 11:9829691-9829691 11:9808144-9808144 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.1537C>T (p.Gln513Ter) SNV Uncertain significance 637851 11:9989951-9989951 11:9968404-9968404 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.1066C>T (p.Arg356Ter) SNV Uncertain significance 637855 11:10014638-10014638 11:9993091-9993091 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.2102C>T (p.Thr701Ile) SNV Uncertain significance 637421 12:110226311-110226311 12:109788506-109788506 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.904A>T (p.Asn302Tyr) SNV Uncertain significance 637420 12:110236667-110236667 12:109798862-109798862 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.694C>A (p.Arg232Ser) SNV Uncertain significance 637419 12:110240814-110240814 12:109803009-109803009 CHR071 Charcot-Marie-Tooth Disease HSPB8 NM_014365.2(HSPB8):c.422A>C (p.Lys141Thr) SNV Uncertain significance 637689 12:119624884-119624884 12:119187079-119187079 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.514dup (p.Ala172fs) duplication Uncertain significance 637079 12:32735311-32735312 12:32582377-32582378 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.1698G>A (p.Met566Ile) SNV Uncertain significance 637078 12:32778650-32778650 12:32625716-32625716 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.1772G>A (p.Trp591Ter) SNV Uncertain significance 637084 12:32786493-32786493 12:32633559-32633559 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.1886_1889del (p.Arg629fs) deletion Uncertain significance 637083 12:32786604-32786607 12:32633670-32633673 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.1890_1894del (p.Lys630fs) deletion Uncertain significance 637081 12:32786609-32786613 12:32633675-32633679 CHR071 Charcot-Marie-Tooth Disease WNK1 NM_018979.4(WNK1):c.640del (p.Met214fs) deletion Uncertain significance 637917 12:863370-863370 12:754204-754204 CHR071 Charcot-Marie-Tooth Disease WNK1 NM_018979.4(WNK1):c.918_919insA (p.Gly307fs) insertion Uncertain significance 637898 12:922966-922967 12:813800-813801 CHR071 Charcot-Marie-Tooth Disease WNK1 NM_018979.4(WNK1):c.1065_1066del (p.Phe356fs) deletion Uncertain significance 637896 12:936339-936340 12:827173-827174 CHR071 Charcot-Marie-Tooth Disease WNK1 NM_018979.4(WNK1):c.1089_1090insT (p.Val364fs) insertion Uncertain significance 637916 12:936364-936365 12:827198-827199 CHR071 Charcot-Marie-Tooth Disease WNK1 NM_018979.4(WNK1):c.1137dup (p.Ala380fs) duplication Uncertain significance 637897 12:936408-936409 12:827242-827243 CHR071 Charcot-Marie-Tooth Disease INF2 NM_022489.4(INF2):c.170T>C (p.Leu57Pro) SNV Uncertain significance 637700 14:105167872-105167872 14:104701535-104701535 CHR071 Charcot-Marie-Tooth Disease INF2 NM_022489.4(INF2):c.170T>G (p.Leu57Arg) SNV Uncertain significance 637708 14:105167872-105167872 14:104701535-104701535 CHR071 Charcot-Marie-Tooth Disease INF2 NM_022489.4(INF2):c.203T>C (p.Phe68Ser) SNV Uncertain significance 637709 14:105167905-105167905 14:104701568-104701568 CHR071 Charcot-Marie-Tooth Disease INF2 NM_022489.4(INF2):c.205_216del (p.Leu69_Ser72del) deletion Uncertain significance 637946 14:105167906-105167917 14:104701569-104701580 CHR071 Charcot-Marie-Tooth Disease INF2 NM_022489.4(INF2):c.206T>C (p.Leu69Pro) SNV Uncertain significance 637710 14:105167908-105167908 14:104701571-104701571 CHR071 Charcot-Marie-Tooth Disease INF2 NM_022489.4(INF2):c.230T>C (p.Leu77Pro) SNV Uncertain significance 637707 14:105167932-105167932 14:104701595-104701595 CHR071 Charcot-Marie-Tooth Disease INF2 NM_022489.4(INF2):c.230T>G (p.Leu77Arg) SNV Uncertain significance 637705 14:105167932-105167932 14:104701595-104701595 CHR071 Charcot-Marie-Tooth Disease INF2 NM_022489.4(INF2):c.314T>G (p.Val105Gly) SNV Uncertain significance 637703 14:105168016-105168016 14:104701679-104701679 CHR071 Charcot-Marie-Tooth Disease INF2 NM_022489.4(INF2):c.317G>C (p.Arg106Pro) SNV Uncertain significance 637701 14:105168019-105168019 14:104701682-104701682 CHR071 Charcot-Marie-Tooth Disease INF2 NM_022489.4(INF2):c.323T>A (p.Val108Asp) SNV Uncertain significance 637711 14:105168025-105168025 14:104701688-104701688 CHR071 Charcot-Marie-Tooth Disease INF2 NM_022489.4(INF2):c.341G>A (p.Gly114Asp) SNV Uncertain significance 637704 14:105168043-105168043 14:104701706-104701706 CHR071 Charcot-Marie-Tooth Disease INF2 NM_022489.4(INF2):c.395T>C (p.Leu132Pro) SNV Uncertain significance 637706 14:105169445-105169445 14:104703108-104703108 CHR071 Charcot-Marie-Tooth Disease INF2 NM_022489.4(INF2):c.494T>C (p.Leu165Pro) SNV Uncertain significance 637702 14:105169544-105169544 14:104703207-104703207 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.1463del (p.Leu488fs) deletion Uncertain significance 637273 11:68701307-68701307 11:68933839-68933839 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1714_1716del (p.Lys572del) deletion Uncertain significance 637699 11:68702846-68702848 11:68935378-68935380 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.100dup (p.Ser34fs) duplication Uncertain significance 637556 8:75262794-75262795 8:74350559-74350560 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.101C>G (p.Ser34Cys) SNV Uncertain significance 637552 8:75262797-75262797 8:74350562-74350562 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.367del (p.Glu123fs) deletion Uncertain significance 637833 17:15134350-15134350 17:15231033-15231033 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.364_365del (p.Pro122fs) deletion Uncertain significance 637818 17:15134352-15134353 17:15231035-15231036 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.346_347insCC (p.Ile116fs) insertion Uncertain significance 637841 17:15134370-15134371 17:15231053-15231054 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.336T>G (p.Ser112Arg) SNV Uncertain significance 637370 17:15134381-15134381 17:15231064-15231064 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.325T>C (p.Cys109Arg) SNV Uncertain significance 637939 17:15134392-15134392 17:15231075-15231075 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.248_250TCT[1] (p.Phe84del) short repeat Uncertain significance 637837 17:15142854-15142856 17:15239537-15239539 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.227del (p.Ser76fs) deletion Uncertain significance 637372 17:15142880-15142880 17:15239563-15239563 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.206T>G (p.Met69Arg) SNV Uncertain significance 637834 17:15142901-15142901 17:15239584-15239584 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.193G>T (p.Val65Phe) SNV Uncertain significance 637832 17:15142914-15142914 17:15239597-15239597 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.183G>A (p.Trp61Ter) SNV Uncertain significance 637386 17:15142924-15142924 17:15239607-15239607 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.138_139delinsA (p.Ser47fs) indel Uncertain significance 637828 17:15162450-15162451 17:15259133-15259134 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.130_131del (p.Thr44fs) deletion Uncertain significance 637838 17:15162458-15162459 17:15259141-15259142 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.116G>A (p.Trp39Ter) SNV Uncertain significance 637374 17:15162473-15162473 17:15259156-15259156 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.88G>A (p.Val30Met) SNV Uncertain significance 637836 17:15162501-15162501 17:15259184-15259184 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.75_78+2del deletion Uncertain significance 637895 17:15163965-15163970 17:15260648-15260653 CHR071 Charcot-Marie-Tooth Disease SLC12A6 NM_001365088.1(SLC12A6):c.2028_2029insT (p.Arg677fs) insertion Uncertain significance 637872 15:34536188-34536189 15:34243987-34243988 CHR071 Charcot-Marie-Tooth Disease SLC12A6 NM_001365088.1(SLC12A6):c.1616G>A (p.Gly539Asp) SNV Uncertain significance 637871 15:34542532-34542532 15:34250331-34250331 CHR071 Charcot-Marie-Tooth Disease LITAF NM_001136473.1(LITAF):c.*116G>A SNV Uncertain significance 637892 16:11643502-11643502 16:11549646-11549646 CHR071 Charcot-Marie-Tooth Disease AARS1 NM_001605.2(AARS1):c.1823C>T (p.Thr608Met) SNV Uncertain significance 637511 16:70293052-70293052 16:70259149-70259149 CHR071 Charcot-Marie-Tooth Disease KARS1 NM_001130089.1(KARS1):c.906C>G (p.Ile302Met) SNV Uncertain significance 637712 16:75668164-75668164 16:75634266-75634266 CHR071 Charcot-Marie-Tooth Disease KARS1 NM_005548.2(KARS1):c.440_441dup (p.Arg148fs) duplication Uncertain significance 637488 16:75670392-75670393 16:75636494-75636495 CHR071 Charcot-Marie-Tooth Disease GAN NM_022041.3(GAN):c.305T>C (p.Ile102Thr) SNV Uncertain significance 637100 16:81388032-81388032 16:81354427-81354427 CHR071 Charcot-Marie-Tooth Disease GAN NM_022041.3(GAN):c.1312G>A (p.Val438Ile) SNV Uncertain significance 637101 16:81398654-81398654 16:81365049-81365049 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.475C>T (p.Arg159Cys) SNV Uncertain significance 637831 17:15134242-15134242 17:15230925-15230925 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.469C>G (p.Arg157Gly) SNV Uncertain significance 637387 17:15134248-15134248 17:15230931-15230931 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.441_442TC[1] (p.Leu148fs) short repeat Uncertain significance 637840 17:15134273-15134274 17:15230956-15230957 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.440T>G (p.Leu147Arg) SNV Uncertain significance 637381 17:15134277-15134277 17:15230960-15230960 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.419G>A (p.Trp140Ter) SNV Uncertain significance 637823 17:15134298-15134298 17:15230981-15230981 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.418T>A (p.Trp140Arg) SNV Uncertain significance 637842 17:15134299-15134299 17:15230982-15230982 CHR071 Charcot-Marie-Tooth Disease EGR2 NM_000399.5(EGR2):c.1064A>T (p.Asp355Val) SNV Uncertain significance 637521 10:64573334-64573334 10:62813574-62813574 CHR071 Charcot-Marie-Tooth Disease EGR2 NM_000399.5(EGR2):c.1057C>G (p.Arg353Gly) SNV Uncertain significance 637523 10:64573341-64573341 10:62813581-62813581 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.238A>G (p.Ser80Gly) SNV Uncertain significance 637693 11:68673688-68673688 11:68906220-68906220 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.983_984del (p.Lys328fs) deletion Uncertain significance 637272 11:68685272-68685273 11:68917804-68917805 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.1031T>G (p.Leu344Arg) SNV Uncertain significance 637125 8:75276556-75276556 8:74364321-74364321 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.2046+1G>T SNV Uncertain significance 637278 9:130263423-130263423 9:127501144-127501144 CHR071 Charcot-Marie-Tooth Disease SETX NM_015046.7(SETX):c.193G>A (p.Glu65Lys) SNV Uncertain significance 637862 9:135221843-135221843 9:132346456-132346456 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.397T>C (p.Cys133Arg) SNV Uncertain significance 637417 9:94842328-94842328 9:92080046-92080046 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.52T>C (p.Tyr18His) SNV Uncertain significance 637875 9:94877601-94877601 9:92115319-92115319 CHR071 Charcot-Marie-Tooth Disease EGR2 NM_000399.5(EGR2):c.1147G>C (p.Asp383His) SNV Uncertain significance 637522 10:64573251-64573251 10:62813491-62813491 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.631T>C (p.Cys211Arg) SNV Uncertain significance 637542 7:30642711-30642711 7:30603095-30603095 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.815T>A (p.Leu272Gln) SNV Uncertain significance 637544 7:30649280-30649280 7:30609664-30609664 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.100G>A (p.Gly34Arg) SNV Uncertain significance 637256 7:75932129-75932129 7:76302812-76302812 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.121G>A (p.Glu41Lys) SNV Uncertain significance 637257 7:75932150-75932150 7:76302833-76302833 CHR071 Charcot-Marie-Tooth Disease IFRD1 NM_001007245.2(IFRD1):c.514A>G (p.Ile172Val) SNV Uncertain significance 637690 7:112099020-112099020 7:112458965-112458965 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.332C>T (p.Ala111Val) SNV Uncertain significance 637059 7:30639570-30639570 7:30599954-30599954 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.455C>T (p.Pro152Leu) SNV Uncertain significance 637108 7:30640702-30640702 7:30601086-30601086 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.596C>T (p.Thr199Ile) SNV Uncertain significance 637413 5:148421114-148421114 5:149041551-149041551 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.253del (p.Asp85fs) deletion Uncertain significance 637867 5:148427451-148427451 5:149047888-149047888 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.790_793delinsTTCCAAGAGCTGTT (p.Gly264fs) indel Uncertain significance 637525 6:110062661-110062664 6:109741458-109741461 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.1147_1148delinsT (p.Glu382_Lys383insTer) indel Uncertain significance 637526 6:110081462-110081463 6:109760259-109760260 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.1149_1150delinsT (p.Lys383fs) indel Uncertain significance 637085 6:110081464-110081465 6:109760261-109760262 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.1675A>T (p.Lys559Ter) SNV Uncertain significance 637527 6:110088023-110088023 6:109766820-109766820 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.1986dup (p.Lys663fs) duplication Uncertain significance 637086 6:110107541-110107542 6:109786338-109786339 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.2674C>T (p.Gln892Ter) SNV Uncertain significance 637863 5:148406621-148406621 5:149027058-149027058 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.2633C>A (p.Ala878Asp) SNV Uncertain significance 637407 5:148406662-148406662 5:149027099-149027099 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.2211_2213del (p.Cys737_Pro738delinsTer) deletion Uncertain significance 637408 5:148407082-148407084 5:149027519-149027521 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1985T>C (p.Leu662Pro) SNV Uncertain significance 637406 5:148407310-148407310 5:149027747-149027747 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.1915del (p.Ala639fs) deletion Uncertain significance 637870 5:148407380-148407380 5:149027817-149027817 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1894_1897delinsAAA (p.Glu632fs) indel Uncertain significance 637411 5:148407398-148407401 5:149027835-149027838 CHR071 Charcot-Marie-Tooth Disease HINT1 NM_005340.7(HINT1):c.182C>T (p.Ser61Phe) SNV Uncertain significance 637941 5:130498299-130498299 5:131162606-131162606 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3379C>T (p.Arg1127Trp) SNV Uncertain significance 637412 5:148388513-148388513 5:149008950-149008950 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3321C>A (p.Tyr1107Ter) SNV Uncertain significance 637416 5:148389839-148389839 5:149010276-149010276 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.3305del (p.His1102fs) deletion Uncertain significance 637414 5:148389855-148389855 5:149010292-149010292 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3202C>T (p.Gln1068Ter) SNV Uncertain significance 637869 5:148392149-148392149 5:149012586-149012586 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3013G>T (p.Glu1005Ter) SNV Uncertain significance 637415 5:148406175-148406175 5:149026612-149026612 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.307G>T (p.Gly103Trp) SNV Uncertain significance 637759 1:161276639-161276639 1:161306849-161306849 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.303G>C (p.Trp101Cys) SNV Uncertain significance 637775 1:161276643-161276643 1:161306853-161306853 CHR071 Charcot-Marie-Tooth Disease HINT1 NM_005340.7(HINT1):c.368G>A (p.Trp123Ter) SNV Uncertain significance 637254 5:130495153-130495153 5:131159460-131159460 CHR071 Charcot-Marie-Tooth Disease HINT1 NM_005340.7(HINT1):c.341A>G (p.His114Arg) SNV Uncertain significance 637253 5:130495180-130495180 5:131159487-131159487 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.203A>G (p.Tyr68Cys) SNV Uncertain significance 637354 1:161277079-161277079 1:161307289-161307289 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.200G>C (p.Arg67Pro) SNV Uncertain significance 637325 1:161277082-161277082 1:161307292-161307292 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.199C>T (p.Arg67Cys) SNV Uncertain significance 637803 1:161277083-161277083 1:161307293-161307293 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.358C>G (p.Arg120Gly) SNV Uncertain significance 637112 8:75272419-75272419 8:74360184-74360184 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.359G>A (p.Arg120Gln) SNV Uncertain significance 637548 8:75272420-75272420 8:74360185-74360185 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.364C>A (p.Gln122Lys) SNV Uncertain significance 637116 8:75272425-75272425 8:74360190-74360190 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.385G>C (p.Asp129His) SNV Uncertain significance 637113 8:75272446-75272446 8:74360211-74360211 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.389C>G (p.Ser130Cys) SNV Uncertain significance 637453 8:75272450-75272450 8:74360215-74360215 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.433_437del (p.Glu145fs) deletion Uncertain significance 637115 8:75272493-75272497 8:74360258-74360262 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.439del (p.Thr147fs) deletion Uncertain significance 637109 8:75272499-75272499 8:74360264-74360264 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.445G>T (p.Asp149Tyr) SNV Uncertain significance 637119 8:75272506-75272506 8:74360271-74360271 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.533A>G (p.Asn178Ser) SNV Uncertain significance 637478 8:75274167-75274167 8:74361932-74361932 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.558del (p.Ile186fs) deletion Uncertain significance 637126 8:75274191-75274191 8:74361956-74361956 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.656T>A (p.Val219Asp) SNV Uncertain significance 637117 8:75275250-75275250 8:74363015-74363015 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.656T>G (p.Val219Gly) SNV Uncertain significance 637477 8:75275250-75275250 8:74363015-74363015 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.664G>A (p.Glu222Lys) SNV Uncertain significance 637111 8:75275258-75275258 8:74363023-74363023 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.668T>A (p.Leu223Ter) SNV Uncertain significance 637554 8:75275262-75275262 8:74363027-74363027 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.677G>A (p.Arg226Lys) SNV Uncertain significance 637550 8:75275271-75275271 8:74363036-74363036 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.678A>C (p.Arg226Ser) SNV Uncertain significance 637114 8:75275272-75275272 8:74363037-74363037 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.679A>G (p.Asn227Asp) SNV Uncertain significance 637933 8:75275273-75275273 8:74363038-74363038 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.740C>T (p.Ala247Val) SNV Uncertain significance 637546 8:75276265-75276265 8:74364030-74364030 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.817C>G (p.Arg273Gly) SNV Uncertain significance 637110 8:75276342-75276342 8:74364107-74364107 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.836A>G (p.Tyr279Cys) SNV Uncertain significance 637120 8:75276361-75276361 8:74364126-74364126 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.840del (p.Tyr279_Tyr280insTer) deletion Uncertain significance 637127 8:75276365-75276365 8:74364130-74364130 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.864dup (p.Phe289fs) duplication Uncertain significance 637455 8:75276388-75276389 8:74364153-74364154 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.891C>G (p.Asn297Lys) SNV Uncertain significance 637932 8:75276416-75276416 8:74364181-74364181 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.117G>C (p.Lys39Asn) SNV Uncertain significance 637121 8:75262813-75262813 8:74350578-74350578 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.172_173delinsTTA (p.Pro59fs) indel Uncertain significance 637123 8:75263563-75263564 8:74351328-74351329 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.174_176delinsTGTG (p.Pro59fs) indel Uncertain significance 637547 8:75263565-75263567 8:74351330-74351332 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.233C>T (p.Pro78Leu) SNV Uncertain significance 637549 8:75263624-75263624 8:74351389-74351389 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.295C>T (p.Gln99Ter) SNV Uncertain significance 637118 8:75263686-75263686 8:74351451-74351451 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.332C>A (p.Pro111His) SNV Uncertain significance 637551 8:75272393-75272393 8:74360158-74360158 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.337_340AAAG[1] (p.Glu114fs) short repeat Uncertain significance 637454 8:75272398-75272401 8:74360163-74360166 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.562C>T (p.Arg188Trp) SNV Uncertain significance 637258 7:75933434-75933434 7:76304117-76304117 CHR071 Charcot-Marie-Tooth Disease ARHGEF10 NM_014629.4(ARHGEF10):c.604A>C (p.Asn202His) SNV Uncertain significance 637512 8:1814750-1814750 8:1866584-1866584 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1285G>T (p.Glu429Ter) SNV Uncertain significance 637490 5:148408010-148408010 5:149028447-149028447 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.404C>G (p.Ser135Cys) SNV Uncertain significance 637060 7:75933158-75933158 7:76303841-76303841 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.421A>C (p.Lys141Gln) SNV Uncertain significance 637260 7:75933175-75933175 7:76303858-76303858 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.476_477del (p.Pro159fs) deletion Uncertain significance 637688 7:75933348-75933349 7:76304031-76304032 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.490A>G (p.Thr164Ala) SNV Uncertain significance 637687 7:75933362-75933362 7:76304045-76304045 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.298G>T (p.Ala100Ser) SNV Uncertain significance 694944 1:12052734-12052734 1:11992677-11992677 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.430G>A (p.Ala144Thr) SNV Uncertain significance 694945 1:12056331-12056331 1:11996274-11996274 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.472A>C (p.Lys158Gln) SNV Uncertain significance 694946 1:12056373-12056373 1:11996316-11996316 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.718T>C (p.Phe240Leu) SNV Uncertain significance 694947 1:12059054-12059054 1:11998997-11998997 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.796G>C (p.Glu266Gln) SNV Uncertain significance 694948 1:12059132-12059132 1:11999075-11999075 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.1138C>T (p.His380Tyr) SNV Uncertain significance 694949 1:12062138-12062138 1:12002081-12002081 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.1556G>A (p.Arg519His) SNV Uncertain significance 694951 1:12065828-12065828 1:12005771-12005771 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.1759C>T (p.Pro587Ser) SNV Uncertain significance 694952 1:12066637-12066637 1:12006580-12006580 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.2047A>C (p.Asn683His) SNV Uncertain significance 694953 1:12067284-12067284 1:12007227-12007227 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.551del (p.Leu184fs) deletion Uncertain significance 694954 1:161276152-161276152 1:161306362-161306362 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.550C>G (p.Leu184Val) SNV Uncertain significance 694955 1:161276153-161276153 1:161306363-161306363 CHR071 Charcot-Marie-Tooth Disease RAB7A NM_004637.6(RAB7A):c.331del (p.Ser111fs) deletion Uncertain significance 694965 3:128525365-128525365 3:128806522-128806522 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.*858_*862del deletion Uncertain significance 694967 5:148383412-148383416 5:149003849-149003853 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.*861dup duplication Uncertain significance 694968 5:148383412-148383413 5:149003849-149003850 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.3295dup (p.Arg1099fs) duplication Uncertain significance 694969 5:148389864-148389865 5:149010301-149010302 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.3292A>C (p.Thr1098Pro) SNV Uncertain significance 694970 5:148389868-148389868 5:149010305-149010305 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.2228C>G (p.Ala743Gly) SNV Uncertain significance 694972 5:148407067-148407067 5:149027504-149027504 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.1813C>T (p.Arg605Cys) SNV Uncertain significance 694975 5:148407482-148407482 5:149027919-149027919 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.54dup (p.Lys19Ter) duplication Uncertain significance 694979 5:148431801-148431802 5:149052238-149052239 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.617A>G (p.Asp206Gly) SNV Uncertain significance 694981 6:110056472-110056472 6:109735269-109735269 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.645C>T (p.Ser215=) SNV Uncertain significance 694982 6:110056500-110056500 6:109735297-109735297 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.1073C>G (p.Ala358Gly) SNV Uncertain significance 694983 6:110064911-110064911 6:109743708-109743708 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.1474C>T (p.Arg492Cys) SNV Uncertain significance 694984 6:110086255-110086255 6:109765052-109765052 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.2552C>T (p.Pro851Leu) SNV Uncertain significance 694988 6:110146296-110146296 6:109825093-109825093 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.44C>T (p.Ala15Val) SNV Uncertain significance 694989 7:30634581-30634581 7:30594965-30594965 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.130A>C (p.Ile44Leu) SNV Uncertain significance 694990 7:30634667-30634667 7:30595051-30595051 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1403A>C (p.Asp468Ala) SNV Uncertain significance 694992 7:30661052-30661052 7:30621436-30621436 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1905G>A (p.Ser635=) SNV Uncertain significance 694995 7:30671864-30671864 7:30632248-30632248 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.2044C>A (p.His682Asn) SNV Uncertain significance 694996 7:30672003-30672003 7:30632387-30632387 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.1414del (p.Ser472fs) deletion Uncertain significance 694998 8:24811064-24811064 8:24953551-24953551 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.1413del (p.Ser472fs) deletion Uncertain significance 694999 8:24811065-24811065 8:24953552-24953552 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.1330A>C (p.Thr444Pro) SNV Uncertain significance 695000 8:24811149-24811149 8:24953635-24953635 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.1236C>A (p.Tyr412Ter) SNV Uncertain significance 695001 8:24811243-24811243 8:24953729-24953729 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.1037C>A (p.Ala346Asp) SNV Uncertain significance 695003 8:24812993-24812993 8:24955479-24955479 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.280C>T (p.Leu94Phe) SNV Uncertain significance 695005 8:24813750-24813750 8:24956236-24956236 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.919A>G (p.Thr307Ala) SNV Uncertain significance 695008 8:75276444-75276444 8:74364209-74364209 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.1066A>G (p.Asn356Asp) SNV Uncertain significance 695009 8:75276591-75276591 8:74364356-74364356 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.86G>C (p.Gly29Ala) SNV Uncertain significance 695010 9:130217290-130217290 9:127455011-127455011 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.1775A>C (p.His592Pro) SNV Uncertain significance 695012 9:130258319-130258319 9:127496040-127496040 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.2005G>T (p.Glu669Ter) SNV Uncertain significance 695013 9:130263381-130263381 9:127501102-127501102 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.2134_2145del (p.Asp712_Gln715del) deletion Uncertain significance 695015 9:130265136-130265147 9:127502857-127502868 CHR071 Charcot-Marie-Tooth Disease EGR2 NM_000399.5(EGR2):c.1198_1199TG[1] (p.Cys400_Asp401delinsTer) short repeat Uncertain significance 694852 10:64573197-64573198 10:62813437-62813438 CHR071 Charcot-Marie-Tooth Disease EGR2 NM_000399.5(EGR2):c.941A>C (p.His314Pro) SNV Uncertain significance 694853 10:64573457-64573457 10:62813697-62813697 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.596C>T (p.Ala199Val) SNV Uncertain significance 694854 11:68678956-68678956 11:68911488-68911488 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.742G>A (p.Val248Met) SNV Uncertain significance 694855 11:68682321-68682321 11:68914853-68914853 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.1062T>G (p.Gly354=) SNV Uncertain significance 694856 11:68696652-68696652 11:68929184-68929184 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.1235+1076G>A SNV Uncertain significance 694857 11:68697901-68697901 11:68930433-68930433 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.1924T>C (p.Tyr642His) SNV Uncertain significance 694859 11:68703872-68703872 11:68936404-68936404 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.2665G>C (p.Ala889Pro) SNV Uncertain significance 694860 11:68705703-68705703 11:68938235-68938235 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.2773del (p.His925fs) deletion Uncertain significance 694861 11:68705810-68705810 11:68938342-68938342 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.2777T>C (p.Leu926Pro) SNV Uncertain significance 694862 11:68705815-68705815 11:68938347-68938347 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.2789A>G (p.His930Arg) SNV Uncertain significance 694863 11:68707006-68707006 11:68939538-68939538 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.409G>C (p.Ala137Pro) SNV Uncertain significance 694836 12:110246251-110246251 12:109808446-109808446 CHR071 Charcot-Marie-Tooth Disease HSPB8 NM_014365.3(HSPB8):c.25T>C (p.Ser9Pro) SNV Uncertain significance 694838 12:119617142-119617142 12:119179337-119179337 CHR071 Charcot-Marie-Tooth Disease HSPB8 NM_014365.3(HSPB8):c.506C>T (p.Pro169Leu) SNV Uncertain significance 694839 12:119631578-119631578 12:119193773-119193773 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.3845T>G (p.Ile1282Arg) SNV Uncertain significance 694844 14:102466366-102466366 14:102000029-102000029 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.6023T>G (p.Val2008Gly) SNV Uncertain significance 694845 14:102476225-102476225 14:102009888-102009888 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.6728G>T (p.Arg2243Ile) SNV Uncertain significance 694847 14:102478321-102478321 14:102011984-102011984 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.9331A>G (p.Ser3111Gly) SNV Uncertain significance 694850 14:102494341-102494341 14:102028004-102028004 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.9703G>C (p.Ala3235Pro) SNV Uncertain significance 694851 14:102496216-102496216 14:102029879-102029879 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.9858A>C (p.Glu3286Asp) SNV Uncertain significance 694865 14:102496594-102496594 14:102030257-102030257 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.11402A>C (p.Tyr3801Ser) SNV Uncertain significance 694866 14:102505533-102505533 14:102039196-102039196 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.11416A>C (p.Thr3806Pro) SNV Uncertain significance 694867 14:102505547-102505547 14:102039210-102039210 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.11618G>C (p.Arg3873Pro) SNV Uncertain significance 694868 14:102505997-102505997 14:102039660-102039660 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.12763C>G (p.Arg4255Gly) SNV Uncertain significance 694869 14:102510689-102510689 14:102044352-102044352 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.12767T>G (p.Val4256Gly) SNV Uncertain significance 694870 14:102510693-102510693 14:102044356-102044356 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.13166A>G (p.His4389Arg) SNV Uncertain significance 694871 14:102514313-102514313 14:102047976-102047976 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.13565C>T (p.Thr4522Ile) SNV Uncertain significance 694872 14:102516100-102516100 14:102049763-102049763 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.13912C>T (p.Arg4638Trp) SNV Uncertain significance 694873 14:102516871-102516871 14:102050534-102050534 CHR071 Charcot-Marie-Tooth Disease LITAF NM_001136473.1(LITAF):c.*173C>T SNV Uncertain significance 694876 16:11643445-11643445 16:11549589-11549589 CHR071 Charcot-Marie-Tooth Disease LITAF NM_001136473.1(LITAF):c.*149C>A SNV Uncertain significance 694877 16:11643469-11643469 16:11549613-11549613 CHR071 Charcot-Marie-Tooth Disease LITAF NM_001136473.1(LITAF):c.*57G>C SNV Uncertain significance 694878 16:11643561-11643561 16:11549705-11549705 CHR071 Charcot-Marie-Tooth Disease LITAF NM_001136473.1(LITAF):c.409_412inv (p.Arg137_Ser138delinsCysGly) inversion Uncertain significance 694880 16:11645626-11645629 16:11551770-11551773 CHR071 Charcot-Marie-Tooth Disease LITAF NM_001136473.1(LITAF):c.86T>G (p.Val29Gly) SNV Uncertain significance 694883 16:11650501-11650501 16:11556645-11556645 CHR071 Charcot-Marie-Tooth Disease AARS1 NM_001605.3(AARS1):c.1138G>T (p.Val380Leu) SNV Uncertain significance 694885 16:70301646-70301646 16:70267743-70267743 CHR071 Charcot-Marie-Tooth Disease AARS1 NM_001605.3(AARS1):c.773A>G (p.Tyr258Cys) SNV Uncertain significance 694886 16:70304142-70304142 16:70270239-70270239 CHR071 Charcot-Marie-Tooth Disease AARS1 NM_001605.3(AARS1):c.205G>C (p.Ala69Pro) SNV Uncertain significance 694889 16:70310997-70310997 16:70277094-70277094 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.*83del deletion Uncertain significance 694890 17:15134151-15134151 17:15230834-15230834 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.317C>A (p.Ala106Asp) SNV Uncertain significance 694892 17:15142790-15142790 17:15239473-15239473 CHR071 Charcot-Marie-Tooth Disease SEPTIN9 NM_001113491.2(SEPTIN9):c.216A>C (p.Glu72Asp) SNV Uncertain significance 694894 17:75398280-75398280 17:77402198-77402198 CHR071 Charcot-Marie-Tooth Disease SEPTIN9 NM_001113491.2(SEPTIN9):c.614C>G (p.Ala205Gly) SNV Uncertain significance 694895 17:75398678-75398678 17:77402596-77402596 CHR071 Charcot-Marie-Tooth Disease SEPTIN9 NM_001113491.2(SEPTIN9):c.637C>T (p.Pro213Ser) SNV Uncertain significance 694896 17:75398701-75398701 17:77402619-77402619 CHR071 Charcot-Marie-Tooth Disease SEPTIN9 NM_001113491.2(SEPTIN9):c.722-6589G>C SNV Uncertain significance 694898 17:75471637-75471637 17:77475555-77475555 CHR071 Charcot-Marie-Tooth Disease SEPTIN9 NM_001113491.2(SEPTIN9):c.722-6334T>C SNV Uncertain significance 694900 17:75471892-75471892 17:77475810-77475810 CHR071 Charcot-Marie-Tooth Disease SEPTIN9 NM_001113491.2(SEPTIN9):c.722-6324del deletion Uncertain significance 694901 17:75471902-75471902 17:77475820-77475820 CHR071 Charcot-Marie-Tooth Disease SEPTIN9 NM_001113491.2(SEPTIN9):c.751G>T (p.Asp251Tyr) SNV Uncertain significance 694903 17:75478255-75478255 17:77482173-77482173 CHR071 Charcot-Marie-Tooth Disease SEPTIN9 NM_001113491.2(SEPTIN9):c.1423C>A (p.Gln475Lys) SNV Uncertain significance 694905 17:75488745-75488745 17:77492663-77492663 CHR071 Charcot-Marie-Tooth Disease SEPTIN9 NM_001113491.2(SEPTIN9):c.1480A>G (p.Met494Val) SNV Uncertain significance 694907 17:75489065-75489065 17:77492983-77492983 CHR071 Charcot-Marie-Tooth Disease SEPTIN9 NM_001113491.2(SEPTIN9):c.1707C>A (p.Ser569Arg) SNV Uncertain significance 694908 17:75494686-75494686 17:77498604-77498604 CHR071 Charcot-Marie-Tooth Disease SEPTIN9 NM_001113491.2(SEPTIN9):c.1751C>T (p.Pro584Leu) SNV Uncertain significance 694909 17:75494730-75494730 17:77498648-77498648 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.4312C>G (p.Pro1438Ala) SNV Uncertain significance 694910 19:40899947-40899947 19:40394040-40394040 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.4186G>A (p.Asp1396Asn) SNV Uncertain significance 694911 19:40900073-40900073 19:40394166-40394166 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.3925C>G (p.Pro1309Ala) SNV Uncertain significance 694912 19:40900334-40900334 19:40394427-40394427 CHR071 Charcot-Marie-Tooth Disease LITAF NM_001136473.1(LITAF):c.268C>T (p.Arg90Cys) SNV Uncertain significance 641266 16:11647498-11647498 16:11553642-11553642 CHR071 Charcot-Marie-Tooth Disease AARS1 NM_001605.2(AARS1):c.1420C>T (p.Arg474Trp) SNV Uncertain significance 664851 16:70298933-70298933 16:70265030-70265030 CHR071 Charcot-Marie-Tooth Disease AARS1 NM_001605.2(AARS1):c.304G>C (p.Gly102Arg) SNV Uncertain significance 651906 16:70310898-70310898 16:70276995-70276995 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.10657C>G (p.Leu3553Val) SNV Uncertain significance 663304 14:102500692-102500692 14:102034355-102034355 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.13795G>A (p.Glu4599Lys) SNV Uncertain significance 657774 14:102516518-102516518 14:102050181-102050181 CHR071 Charcot-Marie-Tooth Disease LITAF NM_001136473.1(LITAF):c.*51G>A SNV Uncertain significance 640744 16:11643567-11643567 16:11549711-11549711 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.862-2A>G SNV Uncertain significance 637856 11:10019928-10019928 11:9998381-9998381 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.837-2A>G SNV Uncertain significance 637942 12:32755093-32755093 12:32602159-32602159 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.837-1G>A SNV Uncertain significance 637082 12:32755094-32755094 12:32602160-32602160 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.1132+1G>A SNV Uncertain significance 637080 12:32761030-32761030 12:32608096-32608096 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.320-1G>C SNV Uncertain significance 637825 17:15134398-15134398 17:15231081-15231081 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.319+1G>A SNV Uncertain significance 637382 17:15142787-15142787 17:15239470-15239470 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.179-1G>C SNV Uncertain significance 637378 17:15142929-15142929 17:15239612-15239612 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.751G>A (p.Ala251Thr) SNV Uncertain significance 655582 19:50333407-50333407 19:49830150-49830150 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.1889C>T (p.Pro630Leu) SNV Uncertain significance 647071 19:50339126-50339126 19:49835869-49835869 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.68-3C>A SNV Uncertain significance 640280 1:161277217-161277217 1:161307427-161307427 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.299G>T (p.Gly100Val) SNV Uncertain significance 641676 17:15142808-15142808 17:15239491-15239491 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*4222C>A SNV Uncertain significance 654826 19:40900242-40900242 19:40394335-40394335 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*3216C>T SNV Uncertain significance 663893 19:40901248-40901248 19:40395341-40395341 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*1790A>G SNV Uncertain significance 664478 19:40902674-40902674 19:40396767-40396767 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*887C>G SNV Uncertain significance 643081 19:40903577-40903577 19:40397670-40397670 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*705G>A SNV Uncertain significance 659819 19:40903759-40903759 19:40397852-40397852 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.2087G>A (p.Cys696Tyr) SNV Uncertain significance 639095 9:130265093-130265093 9:127502814-127502814 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.2108T>C (p.Leu703Pro) SNV Uncertain significance 654779 9:130265114-130265114 9:127502835-127502835 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.1168C>T (p.Leu390Phe) SNV Uncertain significance 651220 9:94800616-94800616 9:92038334-92038334 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.190A>G (p.Thr64Ala) SNV Uncertain significance 649539 11:10064480-10064480 11:10042933-10042933 CHR071 Charcot-Marie-Tooth Disease BSCL2 NM_032667.6(BSCL2):c.286C>A (p.Arg96Ser) SNV Uncertain significance 641509 11:62469948-62469948 11:62702476-62702476 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.389G>A (p.Arg130Gln) SNV Uncertain significance 643169 11:68675745-68675745 11:68908277-68908277 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.440G>A (p.Arg147Gln) SNV Uncertain significance 664193 11:68675796-68675796 11:68908328-68908328 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2561A>G (p.Gln854Arg) SNV Uncertain significance 643088 11:68704509-68704509 11:68937041-68937041 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2713G>A (p.Gly905Ser) SNV Uncertain significance 639203 11:68705751-68705751 11:68938283-68938283 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.4459C>T (p.Pro1487Ser) SNV Uncertain significance 663998 11:9817489-9817489 11:9795942-9795942 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.1559G>A (p.Arg520Gln) SNV Uncertain significance 649958 11:9989929-9989929 11:9968382-9968382 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.2447G>A (p.Arg816His) SNV Uncertain significance 643814 12:110222132-110222132 12:109784327-109784327 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.1981C>T (p.Arg661Cys) SNV Uncertain significance 655488 12:110226432-110226432 12:109788627-109788627 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.202C>T (p.Arg68Cys) SNV Uncertain significance 651174 12:110252400-110252400 12:109814595-109814595 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.183C>T (p.Gly61=) SNV Uncertain significance 641818 12:110252419-110252419 12:109814614-109814614 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.145C>A (p.Pro49Thr) SNV Uncertain significance 649227 12:110252457-110252457 12:109814652-109814652 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.50A>G (p.Glu17Gly) SNV Uncertain significance 639307 12:110252552-110252552 12:109814747-109814747 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.95C>T (p.Ser32Leu) SNV Uncertain significance 665415 12:32734896-32734896 12:32581962-32581962 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.2095A>G (p.Met699Val) SNV Uncertain significance 658814 12:32793261-32793261 12:32640327-32640327 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.353G>A (p.Arg118Gln) SNV Uncertain significance 662692 12:57883280-57883280 12:57489497-57489497 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.1945A>G (p.Asn649Asp) SNV Uncertain significance 655481 12:57906725-57906725 12:57512942-57512942 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.1912G>A (p.Val638Ile) SNV Uncertain significance 649519 14:102452474-102452474 14:101986137-101986137 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.174_178+7del deletion Uncertain significance 637839 17:15162404-15162415 17:15259087-15259098 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.178+1G>C SNV Uncertain significance 637817 17:15162410-15162410 17:15259093-15259093 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.79-2A>G SNV Uncertain significance 637371 17:15162512-15162512 17:15259195-15259195 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.78+5G>A SNV Uncertain significance 637824 17:15163962-15163962 17:15260645-15260645 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.78+1G>T SNV Uncertain significance 637821 17:15163966-15163966 17:15260649-15260649 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.-16-3C>G SNV Uncertain significance 637570 X:70443539-70443539 X:71223689-71223689 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.2905G>A (p.Ala969Thr) SNV Uncertain significance 663891 1:10394696-10394696 1:10334638-10334638 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.3754A>G (p.Ile1252Val) SNV Uncertain significance 649366 1:10408734-10408734 1:10348676-10348676 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.661G>C (p.Asp221His) SNV Uncertain significance 657419 1:12058888-12058888 1:11998831-11998831 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) SNV Uncertain significance 656550 1:156105782-156105782 1:156135991-156135991 CHR071 Charcot-Marie-Tooth Disease DNAJB2 NM_006736.6(DNAJB2):c.674C>T (p.Pro225Leu) SNV Uncertain significance 647696 2:220149408-220149408 2:219284686-219284686 CHR071 Charcot-Marie-Tooth Disease SLC25A46 NM_138773.4(SLC25A46):c.955G>C (p.Ala319Pro) SNV Uncertain significance 651121 5:110097180-110097180 5:110761480-110761480 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3847G>T (p.Gly1283Cys) SNV Uncertain significance 655809 5:148384294-148384294 5:149004731-149004731 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3332G>T (p.Gly1111Val) SNV Uncertain significance 647436 5:148388560-148388560 5:149008997-149008997 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.793T>A (p.Ser265Thr) SNV Uncertain significance 641251 5:148420179-148420179 5:149040616-149040616 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.559G>A (p.Val187Met) SNV Uncertain significance 640103 5:148421151-148421151 5:149041588-149041588 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.1880C>A (p.Thr627Lys) SNV Uncertain significance 660760 6:110098254-110098254 6:109777051-109777051 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.19G>T (p.Val7Leu) SNV Uncertain significance 657471 7:30634556-30634556 7:30594940-30594940 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.301C>T (p.Arg101Cys) SNV Uncertain significance 665249 7:30638490-30638490 7:30598874-30598874 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.4(NEFL):c.743A>C (p.Asp248Ala) SNV Uncertain significance 646801 8:24813287-24813287 8:24955773-24955773 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.4(NEFL):c.637A>G (p.Ile213Val) SNV Uncertain significance 646501 8:24813393-24813393 8:24955879-24955879 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.1142G>A (p.Arg381Gln) SNV Uncertain significance 665625 9:130245282-130245282 9:127483003-127483003 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.481G>C (p.Ala161Pro) SNV Uncertain significance 637143 X:70444038-70444038 X:71224188-71224188 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.482C>A (p.Ala161Asp) SNV Uncertain significance 637661 X:70444039-70444039 X:71224189-71224189 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.484dup (p.Met162fs) duplication Uncertain significance 637672 X:70444040-70444041 X:71224190-71224191 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.490C>G (p.Arg164Gly) SNV Uncertain significance 637567 X:70444047-70444047 X:71224197-71224197 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.494T>C (p.Leu165Pro) SNV Uncertain significance 637568 X:70444051-70444051 X:71224201-71224201 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.498_502del (p.Lys167fs) deletion Uncertain significance 637161 X:70444053-70444057 X:71224203-71224207 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.499A>G (p.Lys167Glu) SNV Uncertain significance 637182 X:70444056-70444056 X:71224206-71224206 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.502T>C (p.Cys168Arg) SNV Uncertain significance 637159 X:70444059-70444059 X:71224209-71224209 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.508G>A (p.Val170Ile) SNV Uncertain significance 637926 X:70444065-70444065 X:71224215-71224215 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.508G>T (p.Val170Phe) SNV Uncertain significance 637610 X:70444065-70444065 X:71224215-71224215 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.509T>A (p.Val170Asp) SNV Uncertain significance 637176 X:70444066-70444066 X:71224216-71224216 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.514C>G (p.Pro172Ala) SNV Uncertain significance 637168 X:70444071-70444071 X:71224221-71224221 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.515C>G (p.Pro172Arg) SNV Uncertain significance 637247 X:70444072-70444072 X:71224222-71224222 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.517T>C (p.Cys173Arg) SNV Uncertain significance 637212 X:70444074-70444074 X:71224224-71224224 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.518G>T (p.Cys173Phe) SNV Uncertain significance 637236 X:70444075-70444075 X:71224225-71224225 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.521C>T (p.Pro174Leu) SNV Uncertain significance 637224 X:70444078-70444078 X:71224228-71224228 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.523A>G (p.Asn175Asp) SNV Uncertain significance 637669 X:70444080-70444080 X:71224230-71224230 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.524A>G (p.Asn175Ser) SNV Uncertain significance 637180 X:70444081-70444081 X:71224231-71224231 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.530T>A (p.Val177Glu) SNV Uncertain significance 637241 X:70444087-70444087 X:71224237-71224237 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.530T>C (p.Val177Ala) SNV Uncertain significance 637171 X:70444087-70444087 X:71224237-71224237 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.532G>T (p.Asp178Tyr) SNV Uncertain significance 637582 X:70444089-70444089 X:71224239-71224239 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.533_536dup (p.Cys179Ter) duplication Uncertain significance 637497 X:70444088-70444089 X:71224238-71224239 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.533A>T (p.Asp178Val) SNV Uncertain significance 637183 X:70444090-70444090 X:71224240-71224240 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.535T>C (p.Cys179Arg) SNV Uncertain significance 637144 X:70444092-70444092 X:71224242-71224242 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.535T>G (p.Cys179Gly) SNV Uncertain significance 637199 X:70444092-70444092 X:71224242-71224242 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.445T>A (p.Phe149Ile) SNV Uncertain significance 637210 X:70444002-70444002 X:71224152-71224152 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.445T>G (p.Phe149Val) SNV Uncertain significance 637240 X:70444002-70444002 X:71224152-71224152 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.451T>A (p.Tyr151Asn) SNV Uncertain significance 637660 X:70444008-70444008 X:71224158-71224158 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.451T>C (p.Tyr151His) SNV Uncertain significance 637656 X:70444008-70444008 X:71224158-71224158 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.454del (p.Val152fs) deletion Uncertain significance 637620 X:70444011-70444011 X:71224161-71224161 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.455T>A (p.Val152Asp) SNV Uncertain significance 637181 X:70444012-70444012 X:71224162-71224162 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.459_460del (p.Phe153fs) deletion Uncertain significance 637154 X:70444014-70444015 X:71224164-71224165 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.458T>C (p.Phe153Ser) SNV Uncertain significance 637192 X:70444015-70444015 X:71224165-71224165 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.458T>G (p.Phe153Cys) SNV Uncertain significance 637618 X:70444015-70444015 X:71224165-71224165 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.466C>T (p.Leu156Phe) SNV Uncertain significance 637184 X:70444023-70444023 X:71224173-71224173 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.470A>G (p.Tyr157Cys) SNV Uncertain significance 637141 X:70444027-70444027 X:71224177-71224177 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.472C>G (p.Pro158Ala) SNV Uncertain significance 637158 X:70444029-70444029 X:71224179-71224179 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.472C>T (p.Pro158Ser) SNV Uncertain significance 637211 X:70444029-70444029 X:71224179-71224179 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.473C>G (p.Pro158Arg) SNV Uncertain significance 637142 X:70444030-70444030 X:71224180-71224180 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.474del (p.Gly159fs) deletion Uncertain significance 637649 X:70444031-70444031 X:71224181-71224181 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.476G>A (p.Gly159Asp) SNV Uncertain significance 637591 X:70444033-70444033 X:71224183-71224183 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.503G>A (p.Cys168Tyr) SNV Uncertain significance 637657 X:70444060-70444060 X:71224210-71224210 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.382T>C (p.Ser128Pro) SNV Uncertain significance 637140 X:70443939-70443939 X:71224089-71224089 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.383C>A (p.Ser128Ter) SNV Uncertain significance 637597 X:70443940-70443940 X:71224090-71224090 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.383C>G (p.Ser128Ter) SNV Uncertain significance 637245 X:70443940-70443940 X:71224090-71224090 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.383C>T (p.Ser128Leu) SNV Uncertain significance 637633 X:70443940-70443940 X:71224090-71224090 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.389C>T (p.Thr130Ile) SNV Uncertain significance 637590 X:70443946-70443946 X:71224096-71224096 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.396G>A (p.Trp132Ter) SNV Uncertain significance 637195 X:70443953-70443953 X:71224103-71224103 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.397del (p.Trp133fs) deletion Uncertain significance 637218 X:70443954-70443954 X:71224104-71224104 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.399G>A (p.Trp133Ter) SNV Uncertain significance 637664 X:70443956-70443956 X:71224106-71224106 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.399G>T (p.Trp133Cys) SNV Uncertain significance 637675 X:70443956-70443956 X:71224106-71224106 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.404A>G (p.Tyr135Cys) SNV Uncertain significance 637209 X:70443961-70443961 X:71224111-71224111 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.410del (p.Ile137fs) deletion Uncertain significance 637573 X:70443967-70443967 X:71224117-71224117 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.413G>A (p.Ser138Asn) SNV Uncertain significance 637605 X:70443970-70443970 X:71224120-71224120 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.419T>A (p.Val140Glu) SNV Uncertain significance 637623 X:70443976-70443976 X:71224126-71224126 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.424del (p.Arg142fs) deletion Uncertain significance 637681 X:70443980-70443980 X:71224130-71224130 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.428T>C (p.Leu143Pro) SNV Uncertain significance 637624 X:70443985-70443985 X:71224135-71224135 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.429_431GTT[1] (p.Leu144del) short repeat Uncertain significance 637594 X:70443985-70443987 X:71224135-71224137 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.436G>A (p.Glu146Lys) SNV Uncertain significance 637650 X:70443993-70443993 X:71224143-71224143 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.436_437delinsAT (p.Glu146Met) indel Uncertain significance 637659 X:70443993-70443994 X:71224143-71224144 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.437A>C (p.Glu146Ala) SNV Uncertain significance 637644 X:70443994-70443994 X:71224144-71224144 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.439del (p.Ala147fs) deletion Uncertain significance 637635 X:70443995-70443995 X:71224145-71224145 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.440C>A (p.Ala147Asp) SNV Uncertain significance 637651 X:70443997-70443997 X:71224147-71224147 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.282C>G (p.His94Gln) SNV Uncertain significance 637647 X:70443839-70443839 X:71223989-71223989 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.286G>C (p.Ala96Pro) SNV Uncertain significance 637230 X:70443843-70443843 X:71223993-71223993 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.295C>T (p.Gln99Ter) SNV Uncertain significance 637663 X:70443852-70443852 X:71224002-71224002 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.298C>T (p.His100Tyr) SNV Uncertain significance 637678 X:70443855-70443855 X:71224005-71224005 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.300C>G (p.His100Gln) SNV Uncertain significance 637609 X:70443857-70443857 X:71224007-71224007 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.304G>T (p.Glu102Ter) SNV Uncertain significance 637187 X:70443861-70443861 X:71224011-71224011 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.308dup (p.Lys104fs) duplication Uncertain significance 637878 X:70443863-70443864 X:71224013-71224014 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.313del (p.Met105fs) deletion Uncertain significance 637601 X:70443867-70443867 X:71224017-71224017 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.311A>C (p.Lys104Thr) SNV Uncertain significance 637686 X:70443868-70443868 X:71224018-71224018 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.323T>C (p.Leu108Pro) SNV Uncertain significance 637682 X:70443880-70443880 X:71224030-71224030 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.332_349del (p.His111_His116del) deletion Uncertain significance 637922 X:70443887-70443904 X:71224037-71224054 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.338_345delinsTGGC (p.Asp113fs) indel Uncertain significance 637598 X:70443895-70443902 X:71224045-71224052 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.355G>T (p.Glu119Ter) SNV Uncertain significance 637235 X:70443912-70443912 X:71224062-71224062 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.358_360del (p.Val120del) deletion Uncertain significance 637652 X:70443914-70443916 X:71224064-71224066 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.359T>A (p.Val120Glu) SNV Uncertain significance 637612 X:70443916-70443916 X:71224066-71224066 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.371del (p.Lys124fs) deletion Uncertain significance 637128 X:70443927-70443927 X:71224077-71224077 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.374T>A (p.Val125Asp) SNV Uncertain significance 637191 X:70443931-70443931 X:71224081-71224081 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.379A>T (p.Ile127Phe) SNV Uncertain significance 637658 X:70443936-70443936 X:71224086-71224086 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.380T>G (p.Ile127Ser) SNV Uncertain significance 637685 X:70443937-70443937 X:71224087-71224087 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.539T>C (p.Phe180Ser) SNV Uncertain significance 637175 X:70444096-70444096 X:71224246-71224246 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.541G>C (p.Val181Leu) SNV Uncertain significance 637662 X:70444098-70444098 X:71224248-71224248 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.542T>C (p.Val181Ala) SNV Uncertain significance 637559 X:70444099-70444099 X:71224249-71224249 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.544T>A (p.Ser182Thr) SNV Uncertain significance 637584 X:70444101-70444101 X:71224251-71224251 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.545C>G (p.Ser182Cys) SNV Uncertain significance 637628 X:70444102-70444102 X:71224252-71224252 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.545C>T (p.Ser182Phe) SNV Uncertain significance 637629 X:70444102-70444102 X:71224252-71224252 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.547C>A (p.Arg183Ser) SNV Uncertain significance 637587 X:70444104-70444104 X:71224254-71224254 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.548G>C (p.Arg183Pro) SNV Uncertain significance 637630 X:70444105-70444105 X:71224255-71224255 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.551C>G (p.Pro184Arg) SNV Uncertain significance 637188 X:70444108-70444108 X:71224258-71224258 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.553_555del (p.Thr185del) deletion Uncertain significance 637579 X:70444108-70444110 X:71224258-71224260 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.578T>G (p.Phe193Cys) SNV Uncertain significance 637574 X:70444135-70444135 X:71224285-71224285 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.579C>G (p.Phe193Leu) SNV Uncertain significance 637639 X:70444136-70444136 X:71224286-71224286 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.592T>G (p.Ser198Ala) SNV Uncertain significance 637645 X:70444149-70444149 X:71224299-71224299 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.593C>T (p.Ser198Phe) SNV Uncertain significance 637575 X:70444150-70444150 X:71224300-71224300 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.595G>C (p.Gly199Arg) SNV Uncertain significance 637178 X:70444152-70444152 X:71224302-71224302 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.601T>C (p.Cys201Arg) SNV Uncertain significance 637671 X:70444158-70444158 X:71224308-71224308 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.601T>G (p.Cys201Gly) SNV Uncertain significance 637238 X:70444158-70444158 X:71224308-71224308 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.602G>A (p.Cys201Tyr) SNV Uncertain significance 637602 X:70444159-70444159 X:71224309-71224309 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.602G>T (p.Cys201Phe) SNV Uncertain significance 637151 X:70444159-70444159 X:71224309-71224309 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.606del (p.Ile203fs) deletion Uncertain significance 637233 X:70444163-70444163 X:71224313-71224313 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.608T>A (p.Ile203Asn) SNV Uncertain significance 637668 X:70444165-70444165 X:71224315-71224315 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.610C>T (p.Leu204Phe) SNV Uncertain significance 637670 X:70444167-70444167 X:71224317-71224317 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.614A>T (p.Asn205Ile) SNV Uncertain significance 637572 X:70444171-70444171 X:71224321-71224321 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.617dup (p.Ala207fs) duplication Uncertain significance 637222 X:70444173-70444174 X:71224323-71224324 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.623A>G (p.Glu208Gly) SNV Uncertain significance 637626 X:70444180-70444180 X:71224330-71224330 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.625_627GTG[1] (p.Val210del) short repeat Uncertain significance 637653 X:70444181-70444183 X:71224331-71224333 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.557A>T (p.Glu186Val) SNV Uncertain significance 637237 X:70444114-70444114 X:71224264-71224264 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.571dup (p.Thr191fs) duplication Uncertain significance 637193 X:70444127-70444128 X:71224277-71224278 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.571A>G (p.Thr191Ala) SNV Uncertain significance 637625 X:70444128-70444128 X:71224278-71224278 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.573_574insTCA (p.Val192_Phe193insSer) insertion Uncertain significance 637251 X:70444130-70444131 X:71224280-71224281 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.631T>C (p.Tyr211His) SNV Uncertain significance 637571 X:70444188-70444188 X:71224338-71224338 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.634del (p.Leu212fs) deletion Uncertain significance 637155 X:70444190-70444190 X:71224340-71224340 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.634C>T (p.Leu212Phe) SNV Uncertain significance 637148 X:70444191-70444191 X:71224341-71224341 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.641T>A (p.Ile214Asn) SNV Uncertain significance 637152 X:70444198-70444198 X:71224348-71224348 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.641_642delinsAT (p.Ile214Asn) indel Uncertain significance 637621 X:70444198-70444199 X:71224348-71224349 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.651T>A (p.Cys217Ter) SNV Uncertain significance 637172 X:70444208-70444208 X:71224358-71224358 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.655C>T (p.Arg219Cys) SNV Uncertain significance 637577 X:70444212-70444212 X:71224362-71224362 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.677A>G (p.Asn226Ser) SNV Uncertain significance 637640 X:70444234-70444234 X:71224384-71224384 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.689G>T (p.Arg230Leu) SNV Uncertain significance 637578 X:70444246-70444246 X:71224396-71224396 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.713G>A (p.Arg238His) SNV Uncertain significance 637202 X:70444270-70444270 X:71224420-71224420 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.715C>A (p.Leu239Ile) SNV Uncertain significance 637217 X:70444272-70444272 X:71224422-71224422 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.761dup (p.Gln255fs) duplication Uncertain significance 637919 X:70444317-70444318 X:71224467-71224468 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.775del (p.Ser258_Leu259insTer) deletion Uncertain significance 637654 X:70444330-70444330 X:71224480-71224480 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.778A>G (p.Lys260Glu) SNV Uncertain significance 637611 X:70444335-70444335 X:71224485-71224485 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.791G>T (p.Arg264Leu) SNV Uncertain significance 637631 X:70444348-70444348 X:71224498-71224498 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.793_821del (p.Arg264_Arg265insTer) deletion Uncertain significance 637883 X:70444348-70444376 X:71224498-71224526 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.838T>G (p.Cys280Gly) SNV Uncertain significance 637156 X:70444395-70444395 X:71224545-71224545 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.842C>A (p.Ser281Ter) SNV Uncertain significance 637203 X:70444399-70444399 X:71224549-71224549 CHR071 Charcot-Marie-Tooth Disease NTRK1 NM_002529.3(NTRK1):c.359+5G>T SNV Uncertain significance 637815 1:156834596-156834596 1:156864804-156864804 CHR071 Charcot-Marie-Tooth Disease NTRK1 NM_002529.3(NTRK1):c.429-1G>C SNV Uncertain significance 637475 1:156837895-156837895 1:156868103-156868103 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.849C>A (p.Cys283Ter) SNV Uncertain significance 637231 X:70444406-70444406 X:71224556-71224556 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_003912.1:c.1480_1593del deletion Uncertain significance 637472 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.311+1G>T SNV Uncertain significance 637302 1:12052748-12052748 1:11992691-11992691 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.475-1G>C SNV Uncertain significance 637718 1:12057353-12057353 1:11997296-11997296 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.475-1G>T SNV Uncertain significance 637304 1:12057353-12057353 1:11997296-11997296 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.365-13C>T SNV Uncertain significance 637255 7:75933106-75933106 7:76303789-76303789 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.310+3A>G SNV Uncertain significance 637124 8:75263704-75263704 8:74351469-74351469 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.311-1G>A SNV Uncertain significance 637452 8:75272371-75272371 8:74360136-74360136 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.485-2A>G SNV Uncertain significance 637553 8:75274117-75274117 8:74361882-74361882 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.5(MTMR2):c.1593+1G>A SNV Uncertain significance 637804 11:95571257-95571257 11:95838093-95838093 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.5(MTMR2):c.358-2A>T SNV Uncertain significance 637812 11:95595268-95595268 11:95862104-95862104 CHR071 Charcot-Marie-Tooth Disease SCN11A NM_001349253.2(SCN11A):c.4057-1G>A SNV Uncertain significance 637860 3:38892243-38892243 3:38850752-38850752 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3676-1G>A SNV Uncertain significance 637866 5:148384466-148384466 5:149004903-149004903 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.2873-14T>A SNV Uncertain significance 637865 5:148406329-148406329 5:149026766-149026766 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.530-1G>A SNV Uncertain significance 637864 5:148421181-148421181 5:149041618-149041618 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.877-2A>C SNV Uncertain significance 637528 6:110064311-110064311 6:109743108-109743108 CHR071 Charcot-Marie-Tooth Disease NTRK1 NM_002529.3(NTRK1):c.1633-1G>T SNV Uncertain significance 637813 1:156846191-156846191 1:156876399-156876399 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.449-1G>T SNV Uncertain significance 637767 1:161276255-161276255 1:161306465-161306465 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.449-1G>C SNV Uncertain significance 637757 1:161276255-161276255 1:161306465-161306465 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.449-1G>A SNV Uncertain significance 637774 1:161276255-161276255 1:161306465-161306465 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.449-9C>T SNV Uncertain significance 637329 1:161276263-161276263 1:161306473-161306473 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.235-1G>C SNV Uncertain significance 637498 1:161276712-161276712 1:161306922-161306922 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro) SNV Uncertain significance 805447 5:148392208-148392208 5:149012645-149012645 CHR071 Charcot-Marie-Tooth Disease AARS1 NM_001605.3(AARS1):c.1429G>A (p.Gly477Ser) SNV Uncertain significance 810834 16:70298924-70298924 16:70265021-70265021 CHR071 Charcot-Marie-Tooth Disease AARS1 NM_001605.3(AARS1):c.1388T>C (p.Ile463Thr) SNV Uncertain significance 810833 16:70298965-70298965 16:70265062-70265062 CHR071 Charcot-Marie-Tooth Disease AARS1 NM_001605.3(AARS1):c.1208G>C (p.Ser403Thr) SNV Uncertain significance 810832 16:70301576-70301576 16:70267673-70267673 CHR071 Charcot-Marie-Tooth Disease AARS1 NM_001605.3(AARS1):c.1043C>T (p.Thr348Met) SNV Uncertain significance 810831 16:70302202-70302202 16:70268299-70268299 CHR071 Charcot-Marie-Tooth Disease AARS1 NM_001605.3(AARS1):c.503C>T (p.Pro168Leu) SNV Uncertain significance 810835 16:70305852-70305852 16:70271949-70271949 CHR071 Charcot-Marie-Tooth Disease AARS1 NM_001605.3(AARS1):c.72G>A (p.Thr24=) SNV Uncertain significance 810836 16:70316595-70316595 16:70282692-70282692 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.679C>T (p.Arg227Trp) SNV Uncertain significance 862708 5:148421031-148421031 5:149041468-149041468 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.2141C>T (p.Thr714Ile) SNV Uncertain significance 839068 6:110110841-110110841 6:109789638-109789638 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.44A>C (p.Lys15Thr) SNV Uncertain significance 840141 8:24813986-24813986 8:24956472-24956472 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.84G>T (p.Trp28Cys) SNV Uncertain significance 827643 17:15162505-15162505 17:15259188-15259188 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.179-1G>A SNV Uncertain significance 827642 17:15142929-15142929 17:15239612-15239612 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.1769G>A (p.Ser590Asn) SNV Uncertain significance 838914 1:10355816-10355816 1:10295758-10295758 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.2846C>T (p.Thr949Met) SNV Uncertain significance 845482 1:10386339-10386339 1:10326281-10326281 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.538A>C (p.Ser180Arg) SNV Uncertain significance 858427 1:12057417-12057417 1:11997360-11997360 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.1714C>T (p.Arg572Cys) SNV Uncertain significance 845926 9:130258258-130258258 9:127495979-127495979 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.703A>G (p.Ser235Gly) SNV Uncertain significance 862138 11:10024153-10024153 11:10002606-10002606 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.2756G>C (p.Arg919Pro) SNV Uncertain significance 858781 11:68705794-68705794 11:68938326-68938326 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.2554C>T (p.Arg852Cys) SNV Uncertain significance 857016 12:110221488-110221488 12:109783683-109783683 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.338A>C (p.Gln113Pro) SNV Uncertain significance 910601 8:24813692-24813692 8:24956178-24956178 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.183A>G (p.Ser61=) SNV Uncertain significance 917109 1:10316381-10316381 1:10256323-10256323 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.4(NDRG1):c.634C>T (p.Arg212Cys) SNV Uncertain significance 908559 8:134262747-134262747 8:133250504-133250504 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.4(NDRG1):c.4T>G (p.Ser2Ala) SNV Uncertain significance 910371 8:134296551-134296551 8:133284308-133284308 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser) SNV Uncertain significance 892337 17:15134310-15134310 17:15230993-15230993 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.3901G>A (p.Gly1301Arg) SNV Uncertain significance 837973 19:40900358-40900358 19:40394451-40394451 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.1468C>T (p.Arg490Trp) SNV Uncertain significance 842630 19:40902791-40902791 19:40396884-40396884 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.574C>T (p.Arg192Trp) SNV Uncertain significance 861758 19:40903685-40903685 19:40397778-40397778 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.4(MED25):c.1090G>A (p.Ala364Thr) SNV Uncertain significance 855342 19:50334133-50334133 19:49830876-49830876 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.4(MED25):c.2192C>T (p.Pro731Leu) SNV Uncertain significance 841303 19:50340149-50340149 19:49836892-49836892 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.501G>T (p.Lys167Asn) SNV Uncertain significance 840624 X:70444058-70444058 X:71224208-71224208 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.425C>T (p.Pro142Leu) SNV Uncertain significance 881731 12:110246235-110246235 12:109808430-109808430 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.2376+2T>C SNV Uncertain significance 694987 6:110112776-110112776 6:109791573-109791573 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.1169+3G>A SNV Uncertain significance 695002 8:24811692-24811692 8:24954178-24954178 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.6222-4C>T SNV Uncertain significance 694846 14:102476609-102476609 14:102010272-102010272 CHR071 Charcot-Marie-Tooth Disease LITAF NM_001136473.1(LITAF):c.*17-48C>A SNV Uncertain significance 694879 16:11643649-11643649 16:11549793-11549793 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.319+16T>G SNV Uncertain significance 694891 17:15142772-15142772 17:15239455-15239455 CHR071 Charcot-Marie-Tooth Disease SEPTIN9 NM_001113491.2(SEPTIN9):c.19+4829C>A SNV Uncertain significance 694893 17:75282465-75282465 17:77286383-77286383 CHR071 Charcot-Marie-Tooth Disease SEPTIN9 NM_001113491.2(SEPTIN9):c.722-7T>C SNV Uncertain significance 694902 17:75478219-75478219 17:77482137-77482137 CHR071 Charcot-Marie-Tooth Disease SEPTIN9 NM_001113491.2(SEPTIN9):c.913+62_913+64delinsAGT indel Uncertain significance 694904 17:75478479-75478481 17:77482397-77482399 CHR071 Charcot-Marie-Tooth Disease SEPTIN9 NM_001113491.2(SEPTIN9):c.1476+2T>G SNV Uncertain significance 694906 17:75488800-75488800 17:77492718-77492718 CHR071 Charcot-Marie-Tooth Disease MORC2 NM_001303256.3(MORC2):c.227-8C>G SNV Uncertain significance 694962 22:31345836-31345836 22:30949850-30949850 CHR071 Charcot-Marie-Tooth Disease MORC2 NM_001303256.3(MORC2):c.158-4A>T SNV Uncertain significance 694963 22:31346435-31346435 22:30950449-30950449 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.2707A>G (p.Ile903Val) SNV Uncertain significance 694914 19:40901552-40901552 19:40395645-40395645 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.2612T>C (p.Val871Ala) SNV Uncertain significance 694916 19:40901647-40901647 19:40395740-40395740 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.2611G>C (p.Val871Leu) SNV Uncertain significance 694917 19:40901648-40901648 19:40395741-40395741 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.381+22C>A SNV Uncertain significance 694923 19:40904505-40904505 19:40398598-40398598 CHR071 Charcot-Marie-Tooth Disease MORC2 NM_001303256.3(MORC2):c.1229T>G (p.Val410Gly) SNV Uncertain significance 694958 22:31333942-31333942 22:30937955-30937955 CHR071 Charcot-Marie-Tooth Disease MORC2 NM_001303256.3(MORC2):c.1217C>T (p.Ala406Val) SNV Uncertain significance 694959 22:31333954-31333954 22:30937967-30937967 CHR071 Charcot-Marie-Tooth Disease MORC2 NM_001303256.3(MORC2):c.1033G>A (p.Glu345Lys) SNV Uncertain significance 694960 22:31335648-31335648 22:30939661-30939661 CHR071 Charcot-Marie-Tooth Disease MORC2 NM_001303256.3(MORC2):c.743A>G (p.Tyr248Cys) SNV Uncertain significance 694961 22:31337501-31337501 22:30941514-30941514 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.1287+2T>G SNV Uncertain significance 694950 1:12064177-12064177 1:12004120-12004120 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.280-1334dup duplication Uncertain significance 694978 5:148425526-148425527 5:149045963-149045964 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.1189G>A (p.Ala397Thr) SNV Uncertain significance 694266 12:57894201-57894201 12:57500418-57500418 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.65A>G (p.Lys22Arg) SNV Uncertain significance 694925 1:10292451-10292451 1:10232393-10232393 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.398A>G (p.Asn133Ser) SNV Uncertain significance 694926 1:10321997-10321997 1:10261939-10261939 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.2115+6205C>G SNV Uncertain significance 694927 1:10363509-10363509 1:10303451-10303451 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.2115+6385G>A SNV Uncertain significance 694928 1:10363689-10363689 1:10303631-10303631 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.2115+6425T>C SNV Uncertain significance 694929 1:10363729-10363729 1:10303671-10303671 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.2115+6548G>A SNV Uncertain significance 694930 1:10363852-10363852 1:10303794-10303794 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.2115+7103A>G SNV Uncertain significance 694931 1:10364407-10364407 1:10304349-10304349 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.2115+7308A>C SNV Uncertain significance 694934 1:10364612-10364612 1:10304554-10304554 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.3020G>A (p.Arg1007His) SNV Uncertain significance 694936 1:10394673-10394673 1:10334615-10334615 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.3991G>T (p.Asp1331Tyr) SNV Uncertain significance 694937 1:10412730-10412730 1:10352672-10352672 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.4165C>A (p.Leu1389Ile) SNV Uncertain significance 694938 1:10421096-10421096 1:10361038-10361038 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.4516G>A (p.Glu1506Lys) SNV Uncertain significance 694939 1:10425470-10425470 1:10365412-10365412 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.4525dup (p.Arg1509fs) duplication Uncertain significance 694940 1:10425476-10425477 1:10365418-10365419 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.5419T>C (p.Ser1807Pro) SNV Uncertain significance 694941 1:10436613-10436613 1:10376555-10376555 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.346A>T (p.Asn116Tyr) SNV Uncertain significance 917381 1:161276600-161276600 1:161306810-161306810 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.319T>A (p.Trp107Arg) SNV Uncertain significance 917376 1:161276627-161276627 1:161306837-161306837 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.208C>A (p.Pro70Thr) SNV Uncertain significance 917380 1:161277074-161277074 1:161307284-161307284 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.704A>G (p.Lys235Arg) SNV Uncertain significance 917148 1:161275709-161275709 1:161305919-161305919 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.659A>G (p.Tyr220Cys) SNV Uncertain significance 917379 1:161275754-161275754 1:161305964-161305964 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.612G>C (p.Lys204Asn) SNV Uncertain significance 917378 1:161275931-161275931 1:161306141-161306141 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.569T>C (p.Leu190Pro) SNV Uncertain significance 917377 1:161276134-161276134 1:161306344-161306344 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.551T>C (p.Leu184Pro) SNV Uncertain significance 917147 1:161276152-161276152 1:161306362-161306362 CHR071 Charcot-Marie-Tooth Disease DNAJB2 NM_006736.6(DNAJB2):c.868C>G (p.Gln290Glu) SNV Uncertain significance 916948 2:220149602-220149602 2:219284880-219284880 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.149G>C (p.Cys50Ser) SNV Uncertain significance 917382 1:161277133-161277133 1:161307343-161307343 CHR071 Charcot-Marie-Tooth Disease TTR NM_000371.4(TTR):c.11A>T (p.His4Leu) SNV Uncertain significance 803480 18:29171876-29171876 18:31591913-31591913 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.2554G>A (p.Val852Met) SNV Uncertain significance 917196 5:148406741-148406741 5:149027178-149027178 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.2433G>T (p.Gln811His) SNV Uncertain significance 917193 5:148406862-148406862 5:149027299-149027299 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.2317C>T (p.Pro773Ser) SNV Uncertain significance 917281 5:148406978-148406978 5:149027415-149027415 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.2275C>A (p.Leu759Met) SNV Uncertain significance 917270 5:148407020-148407020 5:149027457-149027457 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.2263A>G (p.Thr755Ala) SNV Uncertain significance 917194 5:148407032-148407032 5:149027469-149027469 CHR071 Charcot-Marie-Tooth Disease RAB7A NM_004637.6(RAB7A):c.331A>G (p.Ser111Gly) SNV Uncertain significance 917244 3:128525365-128525365 3:128806522-128806522 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.3856C>G (p.Leu1286Val) SNV Uncertain significance 917279 5:148384285-148384285 5:149004722-149004722 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.3818G>A (p.Cys1273Tyr) SNV Uncertain significance 916956 5:148384323-148384323 5:149004760-149004760 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.3773A>G (p.Asp1258Gly) SNV Uncertain significance 916952 5:148384368-148384368 5:149004805-149004805 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.3650G>A (p.Gly1217Asp) SNV Uncertain significance 917271 5:148386469-148386469 5:149006906-149006906 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.3616G>A (p.Ala1206Thr) SNV Uncertain significance 916846 5:148386503-148386503 5:149006940-149006940 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.3296G>A (p.Arg1099His) SNV Uncertain significance 917191 5:148389864-148389864 5:149010301-149010301 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.2962C>A (p.Leu988Met) SNV Uncertain significance 917195 5:148406226-148406226 5:149026663-149026663 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.2873G>A (p.Ser958Asn) SNV Uncertain significance 917273 5:148406315-148406315 5:149026752-149026752 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.2818C>A (p.Leu940Ile) SNV Uncertain significance 917282 5:148406477-148406477 5:149026914-149026914 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.4256G>A (p.Arg1419His) SNV Uncertain significance 917108 1:10421835-10421835 1:10361777-10361777 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.4298C>T (p.Pro1433Leu) SNV Uncertain significance 917104 1:10421877-10421877 1:10361819-10361819 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.4409C>T (p.Ala1470Val) SNV Uncertain significance 917105 1:10425200-10425200 1:10365142-10365142 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.4810G>A (p.Val1604Ile) SNV Uncertain significance 917107 1:10428582-10428582 1:10368524-10368524 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.4844T>C (p.Ile1615Thr) SNV Uncertain significance 917110 1:10431218-10431218 1:10371160-10371160 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.4966C>T (p.Arg1656Trp) SNV Uncertain significance 917338 1:10434393-10434393 1:10374335-10374335 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.5231T>C (p.Ile1744Thr) SNV Uncertain significance 917337 1:10435046-10435046 1:10374988-10374988 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.5332C>G (p.Leu1778Val) SNV Uncertain significance 917334 1:10435355-10435355 1:10375297-10375297 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.159C>G (p.Ser53Arg) SNV Uncertain significance 917371 1:12049384-12049384 1:11989327-11989327 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.262A>G (p.Ile88Val) SNV Uncertain significance 917369 1:12052698-12052698 1:11992641-11992641 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.628G>C (p.Asp210His) SNV Uncertain significance 916787 1:12058855-12058855 1:11998798-11998798 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.692C>G (p.Ser231Cys) SNV Uncertain significance 917374 1:12058919-12058919 1:11998862-11998862 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.757A>T (p.Ile253Phe) SNV Uncertain significance 917366 1:12059093-12059093 1:11999036-11999036 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.796G>A (p.Glu266Lys) SNV Uncertain significance 917372 1:12059132-12059132 1:11999075-11999075 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.802G>A (p.Glu268Lys) SNV Uncertain significance 917373 1:12059138-12059138 1:11999081-11999081 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.913T>G (p.Ser305Ala) SNV Uncertain significance 916786 1:12061554-12061554 1:12001497-12001497 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.946A>G (p.Lys316Glu) SNV Uncertain significance 917365 1:12061587-12061587 1:12001530-12001530 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.710C>T (p.Ser237Phe) SNV Uncertain significance 917111 1:10328311-10328311 1:10268253-10268253 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.1427G>T (p.Arg476Leu) SNV Uncertain significance 917335 1:10342584-10342584 1:10282526-10282526 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.1629G>T (p.Met543Ile) SNV Uncertain significance 917106 1:10355182-10355182 1:10295124-10295124 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.1945_1947del (p.Ser649del) deletion Uncertain significance 917339 1:10357036-10357038 1:10296978-10296980 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.1958C>A (p.Pro653His) SNV Uncertain significance 917341 1:10357051-10357051 1:10296993-10296993 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.3229C>T (p.Pro1077Ser) SNV Uncertain significance 917340 1:10397231-10397231 1:10337173-10337173 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.1488C>A (p.Asp496Glu) SNV Uncertain significance 917367 1:12064977-12064977 1:12004920-12004920 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.2093A>G (p.His698Arg) SNV Uncertain significance 917364 1:12069672-12069672 1:12009615-12009615 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.2120_2128del (p.Arg707_Asn709del) deletion Uncertain significance 917375 1:12069697-12069705 1:12009640-12009648 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.2171T>G (p.Leu724Arg) SNV Uncertain significance 917363 1:12069750-12069750 1:12009693-12009693 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.583A>C (p.Asn195His) SNV Uncertain significance 916764 1:156104263-156104263 1:156134472-156134472 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1639G>A (p.Val547Met) SNV Uncertain significance 916765 1:156107475-156107475 1:156137684-156137684 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.202G>A (p.Gly68Ser) SNV Uncertain significance 916876 6:110037684-110037684 6:109716481-109716481 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.799G>C (p.Val267Leu) SNV Uncertain significance 916873 6:110062670-110062670 6:109741467-109741467 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.1122C>G (p.Ile374Met) SNV Uncertain significance 916878 6:110064960-110064960 6:109743757-109743757 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.1334G>A (p.Gly445Asp) SNV Uncertain significance 916872 6:110083356-110083356 6:109762153-109762153 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.2116G>T (p.Val706Phe) SNV Uncertain significance 916879 6:110110816-110110816 6:109789613-109789613 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.1763A>G (p.Gln588Arg) SNV Uncertain significance 916875 6:110098137-110098137 6:109776934-109776934 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.1794C>A (p.Phe598Leu) SNV Uncertain significance 916871 6:110098168-110098168 6:109776965-109776965 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.2327C>G (p.Ser776Cys) SNV Uncertain significance 916877 6:110112725-110112725 6:109791522-109791522 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.2441A>T (p.Asp814Val) SNV Uncertain significance 916870 6:110113849-110113849 6:109792646-109792646 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.2036T>G (p.Leu679Arg) SNV Uncertain significance 916950 5:148407259-148407259 5:149027696-149027696 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.1748G>C (p.Arg583Thr) SNV Uncertain significance 916955 5:148407547-148407547 5:149027984-149027984 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.620C>T (p.Ser207Leu) SNV Uncertain significance 917274 5:148421090-148421090 5:149041527-149041527 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.229C>T (p.Arg77Trp) SNV Uncertain significance 917276 5:148427475-148427475 5:149047912-149047912 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.214G>A (p.Glu72Lys) SNV Uncertain significance 916951 5:148427490-148427490 5:149047927-149047927 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.192G>T (p.Arg64Ser) SNV Uncertain significance 917275 5:148427512-148427512 5:149047949-149047949 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.1583C>T (p.Ala528Val) SNV Uncertain significance 916844 5:148407712-148407712 5:149028149-149028149 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.1436A>G (p.Tyr479Cys) SNV Uncertain significance 917269 5:148407859-148407859 5:149028296-149028296 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.1405C>T (p.Pro469Ser) SNV Uncertain significance 916953 5:148407890-148407890 5:149028327-149028327 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.1349C>T (p.Pro450Leu) SNV Uncertain significance 916845 5:148407946-148407946 5:149028383-149028383 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.1322T>C (p.Leu441Pro) SNV Uncertain significance 917280 5:148407973-148407973 5:149028410-149028410 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.1306T>A (p.Ser436Thr) SNV Uncertain significance 917192 5:148407989-148407989 5:149028426-149028426 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.1168G>T (p.Asp390Tyr) SNV Uncertain significance 917277 5:148408249-148408249 5:149028686-149028686 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.1163C>T (p.Pro388Leu) SNV Uncertain significance 917278 5:148408254-148408254 5:149028691-149028691 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.1096A>G (p.Thr366Ala) SNV Uncertain significance 917272 5:148411156-148411156 5:149031593-149031593 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.967C>T (p.Arg323Trp) SNV Uncertain significance 916900 8:24813063-24813063 8:24955549-24955549 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.1008_1010GGA[1] (p.Glu337del) short repeat Uncertain significance 916812 8:24813017-24813019 8:24955503-24955505 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.4(NDRG1):c.895G>A (p.Ala299Thr) SNV Uncertain significance 917150 8:134254314-134254314 8:133242071-133242071 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.4(NDRG1):c.12G>T (p.Glu4Asp) SNV Uncertain significance 917152 8:134296543-134296543 8:133284300-133284300 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.*2C>A SNV Uncertain significance 916809 8:24810321-24810321 8:24952808-24952808 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.1276G>A (p.Gly426Ser) SNV Uncertain significance 916807 8:24811203-24811203 8:24953689-24953689 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.1245C>G (p.Ser415Arg) SNV Uncertain significance 916901 8:24811234-24811234 8:24953720-24953720 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.1196G>C (p.Arg399Pro) SNV Uncertain significance 916808 8:24811283-24811283 8:24953769-24953769 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.1193C>A (p.Thr398Asn) SNV Uncertain significance 916811 8:24811286-24811286 8:24953772-24953772 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.1123C>T (p.Leu375Phe) SNV Uncertain significance 916899 8:24811741-24811741 8:24954227-24954227 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.2206A>C (p.Thr736Pro) SNV Uncertain significance 917317 7:30673462-30673462 7:30633846-30633846 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1426A>T (p.Thr476Ser) SNV Uncertain significance 917315 7:30661075-30661075 7:30621459-30621459 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1429A>G (p.Lys477Glu) SNV Uncertain significance 917316 7:30661078-30661078 7:30621462-30621462 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.349G>A (p.Val117Met) SNV Uncertain significance 916735 7:75932378-75932378 7:76303061-76303061 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.368A>C (p.Lys123Thr) SNV Uncertain significance 917326 7:75933122-75933122 7:76303805-76303805 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.4(NDRG1):c.1081C>G (p.Arg361Gly) SNV Uncertain significance 917151 8:134251225-134251225 8:133238982-133238982 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.4(NDRG1):c.706G>A (p.Asp236Asn) SNV Uncertain significance 917149 8:134261007-134261007 8:133248764-133248764 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.4(NDRG1):c.637C>A (p.Gln213Lys) SNV Uncertain significance 916898 8:134262744-134262744 8:133250501-133250501 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.4(NDRG1):c.635G>A (p.Arg212His) SNV Uncertain significance 917153 8:134262746-134262746 8:133250503-133250503 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.4(NDRG1):c.488T>C (p.Ile163Thr) SNV Uncertain significance 916897 8:134269069-134269069 8:133256826-133256826 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.1782_1783del (p.Gly595fs) deletion Uncertain significance 917067 12:110230498-110230499 12:109792693-109792694 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.1175G>A (p.Arg392Gln) SNV Uncertain significance 916986 12:110234487-110234487 12:109796682-109796682 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.1174C>T (p.Arg392Trp) SNV Uncertain significance 916985 12:110234488-110234488 12:109796683-109796683 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.1039G>A (p.Asp347Asn) SNV Uncertain significance 916987 12:110236532-110236532 12:109798727-109798727 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.913T>C (p.Cys305Arg) SNV Uncertain significance 916940 11:10019875-10019875 11:9998328-9998328 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.2615A>G (p.Ter872Trp) SNV Uncertain significance 916988 12:110221427-110221427 12:109783622-109783622 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.2042G>A (p.Gly681Asp) SNV Uncertain significance 916861 12:110226371-110226371 12:109788566-109788566 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.796G>C (p.Ala266Pro) SNV Uncertain significance 916990 12:110238480-110238480 12:109800675-109800675 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.403C>T (p.Pro135Ser) SNV Uncertain significance 916859 12:110246257-110246257 12:109808452-109808452 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.20G>A (p.Gly7Asp) SNV Uncertain significance 916984 12:110252582-110252582 12:109814777-109814777 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.-16C>T SNV Uncertain significance 916989 12:110252617-110252617 12:109814812-109814812 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.263G>A (p.Cys88Tyr) SNV Uncertain significance 917065 12:32735064-32735064 12:32582130-32582130 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.331G>C (p.Glu111Gln) SNV Uncertain significance 917043 12:57883258-57883258 12:57489475-57489475 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.352C>T (p.Arg118Trp) SNV Uncertain significance 917041 12:57883279-57883279 12:57489496-57489496 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.986C>T (p.Pro329Leu) SNV Uncertain significance 917128 12:57892301-57892301 12:57498518-57498518 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.988C>A (p.Gln330Lys) SNV Uncertain significance 917038 12:57892303-57892303 12:57498520-57498520 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.1073C>G (p.Thr358Ser) SNV Uncertain significance 917034 12:57892388-57892388 12:57498605-57498605 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.1172A>G (p.His391Arg) SNV Uncertain significance 917126 12:57894184-57894184 12:57500401-57500401 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.1234G>A (p.Glu412Lys) SNV Uncertain significance 917029 12:57894246-57894246 12:57500463-57500463 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.1241G>A (p.Arg414Gln) SNV Uncertain significance 917031 12:57894253-57894253 12:57500470-57500470 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.1316G>A (p.Arg439Gln) SNV Uncertain significance 917040 12:57898030-57898030 12:57504247-57504247 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.1340G>A (p.Ser447Asn) SNV Uncertain significance 917042 12:57898054-57898054 12:57504271-57504271 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.1427C>A (p.Pro476His) SNV Uncertain significance 917037 12:57905539-57905539 12:57511756-57511756 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.1430A>G (p.Asn477Ser) SNV Uncertain significance 917033 12:57905542-57905542 12:57511759-57511759 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.1448G>A (p.Arg483His) SNV Uncertain significance 917036 12:57905560-57905560 12:57511777-57511777 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.1630G>A (p.Val544Ile) SNV Uncertain significance 917064 12:32777997-32777997 12:32625063-32625063 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.1873C>T (p.Arg625Trp) SNV Uncertain significance 917127 12:57906653-57906653 12:57512870-57512870 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.2024C>G (p.Thr675Ser) SNV Uncertain significance 917035 12:57908559-57908559 12:57514776-57514776 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.2605G>C (p.Val869Leu) SNV Uncertain significance 917030 12:57910266-57910266 12:57516483-57516483 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.2609C>T (p.Ala870Val) SNV Uncertain significance 917039 12:57910270-57910270 12:57516487-57516487 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.702T>G (p.Asp234Glu) SNV Uncertain significance 917205 14:102446239-102446239 14:101979902-101979902 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.6(MTMR2):c.*17G>A SNV Uncertain significance 916794 11:95568437-95568437 11:95835273-95835273 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.6(MTMR2):c.1915G>T (p.Val639Phe) SNV Uncertain significance 916796 11:95568471-95568471 11:95835307-95835307 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.6(MTMR2):c.841A>G (p.Ile281Val) SNV Uncertain significance 916795 11:95582990-95582990 11:95849826-95849826 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.6(MTMR2):c.139T>C (p.Ser47Pro) SNV Uncertain significance 916797 11:95621367-95621367 11:95888203-95888203 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.6(MTMR2):c.-15T>C SNV Uncertain significance 916793 11:95657133-95657133 11:95923969-95923969 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.4981C>G (p.Gln1661Glu) SNV Uncertain significance 916836 11:9809237-9809237 11:9787690-9787690 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.4384A>T (p.Asn1462Tyr) SNV Uncertain significance 916935 11:9829606-9829606 11:9808059-9808059 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.4355A>G (p.Lys1452Arg) SNV Uncertain significance 916939 11:9829635-9829635 11:9808088-9808088 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.4332A>C (p.Lys1444Asn) SNV Uncertain significance 916839 11:9829658-9829658 11:9808111-9808111 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.3668T>C (p.Leu1223Ser) SNV Uncertain significance 916931 11:9851028-9851028 11:9829481-9829481 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.3518G>A (p.Arg1173His) SNV Uncertain significance 916936 11:9853905-9853905 11:9832358-9832358 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.3386G>C (p.Ser1129Thr) SNV Uncertain significance 916929 11:9861114-9861114 11:9839567-9839567 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.3383G>A (p.Gly1128Asp) SNV Uncertain significance 916835 11:9861117-9861117 11:9839570-9839570 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.3316A>G (p.Met1106Val) SNV Uncertain significance 916933 11:9861184-9861184 11:9839637-9839637 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.3109C>T (p.Arg1037Cys) SNV Uncertain significance 916932 11:9867113-9867113 11:9845566-9845566 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.1632C>A (p.Phe544Leu) SNV Uncertain significance 916938 11:9985398-9985398 11:9963851-9963851 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.1563A>G (p.Ile521Met) SNV Uncertain significance 916930 11:9989925-9989925 11:9968378-9968378 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.1244G>T (p.Gly415Val) SNV Uncertain significance 916838 11:10014014-10014014 11:9992467-9992467 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.1015C>G (p.Pro339Ala) SNV Uncertain significance 916837 11:10015506-10015506 11:9993959-9993959 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.2524G>A (p.Val842Met) SNV Uncertain significance 916991 12:110221518-110221518 12:109783713-109783713 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.2507C>T (p.Ser836Leu) SNV Uncertain significance 916992 12:110221535-110221535 12:109783730-109783730 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.1302_1304AGA[1] (p.Glu436del) short repeat Uncertain significance 917297 9:94797113-94797115 9:92034831-92034833 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.1259T>C (p.Met420Thr) SNV Uncertain significance 917295 9:94797161-94797161 9:92034879-92034879 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.1043C>T (p.Ala348Val) SNV Uncertain significance 917294 9:94809492-94809492 9:92047210-92047210 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.1753C>G (p.His585Asp) SNV Uncertain significance 917121 9:130258297-130258297 9:127496018-127496018 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.1936G>T (p.Val646Phe) SNV Uncertain significance 917122 9:130263312-130263312 9:127501033-127501033 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.2140G>C (p.Val714Leu) SNV Uncertain significance 916954 5:148407155-148407155 5:149027592-149027592 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.207G>A (p.Met69Ile) SNV Uncertain significance 917003 8:75263598-75263598 8:74351363-74351363 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.362G>A (p.Arg121His) SNV Uncertain significance 917124 9:130223492-130223492 9:127461213-127461213 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.992C>T (p.Thr331Met) SNV Uncertain significance 917351 9:130242206-130242206 9:127479927-127479927 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.1198C>T (p.Arg400Trp) SNV Uncertain significance 917350 9:130248053-130248053 9:127485774-127485774 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.1261A>G (p.Met421Val) SNV Uncertain significance 917125 9:130249956-130249956 9:127487677-127487677 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.1419C>A (p.Ser473Arg) SNV Uncertain significance 917123 9:130251794-130251794 9:127489515-127489515 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.681T>A (p.Asn227Lys) SNV Uncertain significance 917002 8:75275275-75275275 8:74363040-74363040 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.304G>T (p.Ala102Ser) SNV Uncertain significance 916810 8:24813726-24813726 8:24956212-24956212 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.235A>G (p.Ile79Val) SNV Uncertain significance 916806 8:24813795-24813795 8:24956281-24956281 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.4G>A (p.Ala2Thr) SNV Uncertain significance 917004 8:75262700-75262700 8:74350465-74350465 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.28G>A (p.Gly10Arg) SNV Uncertain significance 917001 8:75262724-75262724 8:74350489-74350489 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.442T>G (p.Leu148Val) SNV Uncertain significance 917296 9:94830366-94830366 9:92068084-92068084 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.100T>G (p.Trp34Gly) SNV Uncertain significance 917298 9:94874802-94874802 9:92112520-92112520 CHR071 Charcot-Marie-Tooth Disease EGR2 NM_000399.5(EGR2):c.1183G>C (p.Glu395Gln) SNV Uncertain significance 916980 10:64573215-64573215 10:62813455-62813455 CHR071 Charcot-Marie-Tooth Disease EGR2 NM_000399.5(EGR2):c.938A>G (p.His313Arg) SNV Uncertain significance 916981 10:64573460-64573460 10:62813700-62813700 CHR071 Charcot-Marie-Tooth Disease EGR2 NM_000399.5(EGR2):c.733G>A (p.Asp245Asn) SNV Uncertain significance 916982 10:64573665-64573665 10:62813905-62813905 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.876C>G (p.His292Gln) SNV Uncertain significance 917292 9:94812254-94812254 9:92049972-92049972 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.640A>C (p.Met214Leu) SNV Uncertain significance 917293 9:94821511-94821511 9:92059229-92059229 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.808A>G (p.Thr270Ala) SNV Uncertain significance 916934 11:10022514-10022514 11:10000967-10000967 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.266A>C (p.Glu89Ala) SNV Uncertain significance 916937 11:10064404-10064404 11:10042857-10042857 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.185G>A (p.Arg62Gln) SNV Uncertain significance 917010 11:68673635-68673635 11:68906167-68906167 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.191T>C (p.Leu64Pro) SNV Uncertain significance 917015 11:68673641-68673641 11:68906173-68906173 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.212G>T (p.Arg71Leu) SNV Uncertain significance 917100 11:68673662-68673662 11:68906194-68906194 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.455T>C (p.Leu152Pro) SNV Uncertain significance 917098 11:68676007-68676007 11:68908539-68908539 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.551C>T (p.Pro184Leu) SNV Uncertain significance 917014 11:68678911-68678911 11:68911443-68911443 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.728C>G (p.Pro243Arg) SNV Uncertain significance 917017 11:68682307-68682307 11:68914839-68914839 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.1448A>T (p.Glu483Val) SNV Uncertain significance 917016 11:68701292-68701292 11:68933824-68933824 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.1547G>A (p.Arg516His) SNV Uncertain significance 917012 11:68701941-68701941 11:68934473-68934473 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.1605T>G (p.Ile535Met) SNV Uncertain significance 917095 11:68701999-68701999 11:68934531-68934531 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.1795G>A (p.Val599Met) SNV Uncertain significance 917019 11:68703743-68703743 11:68936275-68936275 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.1807C>G (p.Arg603Gly) SNV Uncertain significance 917013 11:68703755-68703755 11:68936287-68936287 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.4G>A (p.Ala2Thr) SNV Uncertain significance 917101 11:68671424-68671424 11:68903956-68903956 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.338C>T (p.Ser113Leu) SNV Uncertain significance 917097 11:68675694-68675694 11:68908226-68908226 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.2492G>C (p.Arg831Thr) SNV Uncertain significance 917011 11:68704440-68704440 11:68936972-68936972 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.2548A>G (p.Ser850Gly) SNV Uncertain significance 917018 11:68704496-68704496 11:68937028-68937028 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.2687C>T (p.Thr896Ile) SNV Uncertain significance 917096 11:68705725-68705725 11:68938257-68938257 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.3928C>T (p.Arg1310Trp) SNV Uncertain significance 917168 19:40900331-40900331 19:40394424-40394424 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.3920G>C (p.Arg1307Pro) SNV Uncertain significance 916915 19:40900339-40900339 19:40394432-40394432 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.3857G>A (p.Gly1286Asp) SNV Uncertain significance 917166 19:40900402-40900402 19:40394495-40394495 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.3809G>A (p.Arg1270His) SNV Uncertain significance 917235 19:40900450-40900450 19:40394543-40394543 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.3767T>G (p.Val1256Gly) SNV Uncertain significance 916823 19:40900492-40900492 19:40394585-40394585 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.3715G>T (p.Gly1239Cys) SNV Uncertain significance 917239 19:40900544-40900544 19:40394637-40394637 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.3424G>A (p.Gly1142Arg) SNV Uncertain significance 916912 19:40900835-40900835 19:40394928-40394928 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.3374G>T (p.Gly1125Val) SNV Uncertain significance 916921 19:40900885-40900885 19:40394978-40394978 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.3322G>A (p.Glu1108Lys) SNV Uncertain significance 917173 19:40900937-40900937 19:40395030-40395030 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.3241G>A (p.Ala1081Thr) SNV Uncertain significance 917231 19:40901018-40901018 19:40395111-40395111 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.3239G>A (p.Arg1080His) SNV Uncertain significance 916919 19:40901020-40901020 19:40395113-40395113 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.3060G>T (p.Arg1020Ser) SNV Uncertain significance 916827 19:40901199-40901199 19:40395292-40395292 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.2908C>T (p.Arg970Trp) SNV Uncertain significance 917238 19:40901351-40901351 19:40395444-40395444 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.2816C>T (p.Ser939Leu) SNV Uncertain significance 917234 19:40901443-40901443 19:40395536-40395536 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.2628G>A (p.Met876Ile) SNV Uncertain significance 916918 19:40901631-40901631 19:40395724-40395724 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.2297T>C (p.Val766Ala) SNV Uncertain significance 917236 19:40901962-40901962 19:40396055-40396055 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.2252C>T (p.Ser751Leu) SNV Uncertain significance 916911 19:40902007-40902007 19:40396100-40396100 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.2245A>C (p.Lys749Gln) SNV Uncertain significance 917242 19:40902014-40902014 19:40396107-40396107 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.2173C>T (p.Pro725Ser) SNV Uncertain significance 917237 19:40902086-40902086 19:40396179-40396179 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.1834G>A (p.Ala612Thr) SNV Uncertain significance 916917 19:40902425-40902425 19:40396518-40396518 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.1797A>T (p.Lys599Asn) SNV Uncertain significance 917170 19:40902462-40902462 19:40396555-40396555 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.1684G>A (p.Val562Met) SNV Uncertain significance 916908 19:40902575-40902575 19:40396668-40396668 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.1678T>C (p.Ser560Pro) SNV Uncertain significance 916909 19:40902581-40902581 19:40396674-40396674 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.1672G>A (p.Glu558Lys) SNV Uncertain significance 916910 19:40902587-40902587 19:40396680-40396680 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.238_243CTGTTC[1] (p.80_81LF[1]) short repeat Uncertain significance 917229 17:15142858-15142863 17:15239541-15239546 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.4335_4336del (p.Ala1447fs) deletion Uncertain significance 917233 19:40899923-40899924 19:40394016-40394017 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.4274G>C (p.Ser1425Thr) SNV Uncertain significance 916914 19:40899985-40899985 19:40394078-40394078 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.4199A>G (p.Lys1400Arg) SNV Uncertain significance 916826 19:40900060-40900060 19:40394153-40394153 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.4180G>A (p.Glu1394Lys) SNV Uncertain significance 917241 19:40900079-40900079 19:40394172-40394172 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.13609G>A (p.Glu4537Lys) SNV Uncertain significance 917264 14:102516144-102516144 14:102049807-102049807 CHR071 Charcot-Marie-Tooth Disease LITAF NM_001136473.1(LITAF):c.269G>A (p.Arg90His) SNV Uncertain significance 917116 16:11647497-11647497 16:11553641-11553641 CHR071 Charcot-Marie-Tooth Disease LITAF NM_001136473.1(LITAF):c.199C>T (p.Pro67Ser) SNV Uncertain significance 917347 16:11650388-11650388 16:11556532-11556532 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.467T>C (p.Leu156Ser) SNV Uncertain significance 917226 17:15134250-15134250 17:15230933-15230933 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.397G>A (p.Gly133Ser) SNV Uncertain significance 917228 17:15134320-15134320 17:15231003-15231003 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.5580A>T (p.Gln1860His) SNV Uncertain significance 917210 14:102472371-102472371 14:102006034-102006034 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.3844A>G (p.Ile1282Val) SNV Uncertain significance 917206 14:102466365-102466365 14:102000028-102000028 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.4264G>A (p.Val1422Ile) SNV Uncertain significance 917207 14:102467560-102467560 14:102001223-102001223 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.4959C>A (p.His1653Gln) SNV Uncertain significance 917208 14:102470930-102470930 14:102004593-102004593 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.4963A>C (p.Lys1655Gln) SNV Uncertain significance 917209 14:102470934-102470934 14:102004597-102004597 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.11803G>A (p.Val3935Met) SNV Uncertain significance 917261 14:102506685-102506685 14:102040348-102040348 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.12250A>G (p.Ile4084Val) SNV Uncertain significance 917262 14:102508600-102508600 14:102042263-102042263 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.12651T>G (p.Asp4217Glu) SNV Uncertain significance 917263 14:102510349-102510349 14:102044012-102044012 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.573C>T (p.Thr191=) SNV Uncertain significance 917094 X:70444130-70444130 X:71224280-71224280 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.4(MED25):c.1594G>A (p.Gly532Ser) SNV Uncertain significance 917362 19:50338354-50338354 19:49835097-49835097 CHR071 Charcot-Marie-Tooth Disease AIFM1 NM_004208.4(AIFM1):c.1627A>G (p.Ile543Val) SNV Uncertain significance 916843 X:129264088-129264088 X:130130113-130130113 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.959-16T>A SNV Uncertain significance 917336 1:10336363-10336363 1:10276305-10276305 CHR071 Charcot-Marie-Tooth Disease AIFM1 NM_004208.4(AIFM1):c.513G>A (p.Met171Ile) SNV Uncertain significance 916942 X:129281560-129281560 X:130147585-130147585 CHR071 Charcot-Marie-Tooth Disease PDK3 NM_005391.5(PDK3):c.467C>T (p.Thr156Ile) SNV Uncertain significance 917162 X:24521590-24521590 X:24503473-24503473 CHR071 Charcot-Marie-Tooth Disease PDK3 NM_005391.5(PDK3):c.1115_1116delinsAG (p.Phe372Ter) indel Uncertain significance 917161 X:24552083-24552084 X:24533966-24533967 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.3259+3A>C SNV Uncertain significance 917103 1:10397264-10397264 1:10337206-10337206 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.1393-8G>A SNV Uncertain significance 917370 1:12064874-12064874 1:12004817-12004817 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.4(MED25):c.125C>T (p.Pro42Leu) SNV Uncertain significance 916779 19:50321723-50321723 19:49818466-49818466 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.4(MED25):c.249A>C (p.Gln83His) SNV Uncertain significance 916777 19:50322497-50322497 19:49819240-49819240 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.4(MED25):c.413C>T (p.Thr138Met) SNV Uncertain significance 916778 19:50332235-50332235 19:49828978-49828978 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.4(MED25):c.557G>A (p.Arg186Gln) SNV Uncertain significance 917361 19:50333074-50333074 19:49829817-49829817 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.4(MED25):c.807_809del (p.Pro270del) deletion Uncertain significance 916780 19:50333460-50333462 19:49830203-49830205 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.4(MED25):c.2045C>T (p.Pro682Leu) SNV Uncertain significance 916776 19:50339562-50339562 19:49836305-49836305 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.182A>G (p.Glu61Gly) SNV Uncertain significance 917171 19:40909615-40909615 19:40403708-40403708 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.158C>A (p.Ala53Asp) SNV Uncertain significance 916923 19:40909639-40909639 19:40403732-40403732 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.44A>G (p.Glu15Gly) SNV Uncertain significance 916824 19:40909753-40909753 19:40403846-40403846 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.17G>T (p.Arg6Leu) SNV Uncertain significance 916913 19:40913823-40913823 19:40407916-40407916 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.10A>G (p.Arg4Gly) SNV Uncertain significance 916922 19:40913830-40913830 19:40407923-40407923 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.1490_1491delinsTG (p.Pro497Leu) indel Uncertain significance 917169 19:40902768-40902769 19:40396861-40396862 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.1490C>T (p.Pro497Leu) SNV Uncertain significance 916920 19:40902769-40902769 19:40396862-40396862 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.1333C>G (p.Pro445Ala) SNV Uncertain significance 917174 19:40902926-40902926 19:40397019-40397019 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.1206G>T (p.Glu402Asp) SNV Uncertain significance 917167 19:40903053-40903053 19:40397146-40397146 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.1136A>C (p.Lys379Thr) SNV Uncertain significance 917230 19:40903123-40903123 19:40397216-40397216 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.832_861del (p.Pro278_Ala287del) deletion Uncertain significance 917232 19:40903398-40903427 19:40397491-40397520 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.680C>T (p.Ala227Val) SNV Uncertain significance 916828 19:40903579-40903579 19:40397672-40397672 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.617G>A (p.Arg206Gln) SNV Uncertain significance 917240 19:40903642-40903642 19:40397735-40397735 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.556C>T (p.Arg186Trp) SNV Uncertain significance 917172 19:40903703-40903703 19:40397796-40397796 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.335_340del (p.Val112_Ser113del) deletion Uncertain significance 916916 19:40904568-40904573 19:40398661-40398666 CHR071 Charcot-Marie-Tooth Disease LITAF NM_001136473.1(LITAF):c.*69G>A SNV Uncertain significance 6061 rs121908615 16:11643549-11643549 16:11549693-11549693 CHR071 Charcot-Marie-Tooth Disease PDK3 NM_005391.5(PDK3):c.1077+4C>T SNV Uncertain significance 917160 X:24549891-24549891 X:24531774-24531774 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) SNV Uncertain significance 9208 rs137852647 7:30665896-30665896 7:30626280-30626280 CHR071 Charcot-Marie-Tooth Disease DCTN1 NM_004082.4(DCTN1):c.2353C>T (p.Arg785Trp) SNV Uncertain significance 8404 rs121909344 2:74594023-74594023 2:74366896-74366896 CHR071 Charcot-Marie-Tooth Disease POLG NM_001126131.2(POLG):c.1491G>C (p.Gln497His) SNV Uncertain significance 13510 rs121918052 15:89870237-89870237 15:89327006-89327006 CHR071 Charcot-Marie-Tooth Disease TTR NM_000371.3(TTR):c.386C>T (p.Ala129Val) SNV Uncertain significance 13454 rs121918092 18:29178580-29178580 18:31598617-31598617 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.179-13C>G SNV Uncertain significance 917227 17:15142941-15142941 17:15239624-15239624 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.1368+3A>T SNV Uncertain significance 917032 12:57898085-57898085 12:57504302-57504302 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.2336+1G>A SNV Uncertain significance 916860 12:110224514-110224514 12:109786709-109786709 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.712+1G>T SNV Uncertain significance 916983 12:110240795-110240795 12:109802990-109802990 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.691-5T>A SNV Uncertain significance 917066 12:32754207-32754207 12:32601273-32601273 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.253-9C>A SNV Uncertain significance 917352 9:130221273-130221273 9:127458994-127458994 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.2612-3C>T SNV Uncertain significance 917099 11:68705647-68705647 11:68938179-68938179 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.4097G>A (p.Gly1366Glu) SNV Uncertain significance 916825 19:40900162-40900162 19:40394255-40394255 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.3204+5G>A SNV Uncertain significance 916847 5:148392142-148392142 5:149012579-149012579 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.176-3C>T SNV Uncertain significance 917368 1:12052609-12052609 1:11992552-11992552 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1961G>A (p.Arg654Gln) SNV Uncertain significance 916766 1:156108541-156108541 1:156138750-156138750 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.498-13A>G SNV Uncertain significance 916869 6:110056340-110056340 6:109735137-109735137 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.1949-10T>G SNV Uncertain significance 916874 6:110107495-110107495 6:109786292-109786292 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.444C>T (p.Thr148=) SNV Likely benign 385552 rs373038884 1:12056345-12056345 1:11996288-11996288 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.870C>T (p.Gly290=) SNV Likely benign 390686 rs368302487 1:12061511-12061511 1:12001454-12001454 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1157+19G>A SNV Likely benign 379044 rs757715731 1:156105931-156105931 1:156136140-156136140 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1857T>C (p.Ser619=) SNV Likely benign 378090 rs368581237 1:156108437-156108437 1:156138646-156138646 CHR071 Charcot-Marie-Tooth Disease DNAJB2 NM_006736.6(DNAJB2):c.787C>T (p.Leu263=) SNV Likely benign 377780 rs140805390 2:220149521-220149521 2:219284799-219284799 CHR071 Charcot-Marie-Tooth Disease DNAJB2 NM_006736.6(DNAJB2):c.195C>T (p.Tyr65=) SNV Likely benign 377779 rs116719245 2:220146459-220146459 2:219281737-219281737 CHR071 Charcot-Marie-Tooth Disease DNAJB2 NM_006736.6(DNAJB2):c.759G>A (p.Glu253=) SNV Likely benign 391179 rs775630178 2:220149493-220149493 2:219284771-219284771 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.548-20C>T SNV Likely benign 382642 rs368802434 11:68678888-68678888 11:68911420-68911420 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.3(NDRG1):c.393G>A (p.Leu131=) SNV Likely benign 380923 rs149767690 8:134270666-134270666 8:133258423-133258423 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2612-16C>T SNV Likely benign 379557 rs200337900 11:68705634-68705634 11:68938166-68938166 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1158C>T (p.Ser386=) SNV Likely benign 379179 rs373576697 7:30655638-30655638 7:30616022-30616022 CHR071 Charcot-Marie-Tooth Disease RAB7A NM_004637.5(RAB7A):c.183A>C (p.Ile61=) SNV Likely benign 382127 rs376642691 3:128525217-128525217 3:128806374-128806374 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.2385C>T (p.Ser795=) SNV Likely benign 387819 rs145345364 5:148406910-148406910 5:149027347-149027347 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.3(NDRG1):c.973C>A (p.Arg325=) SNV Likely benign 385209 rs141078746 8:134251333-134251333 8:133239090-133239090 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.428-17C>T SNV Likely benign 377912 rs370452042 7:30640658-30640658 7:30601042-30601042 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2691C>T (p.Cys897=) SNV Likely benign 381270 rs146286133 11:68705729-68705729 11:68938261-68938261 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.1464C>T (p.Thr488=) SNV Likely benign 381035 rs146841400 12:110232161-110232161 12:109794356-109794356 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.11596-20G>A SNV Likely benign 386228 rs372623721 14:102505955-102505955 14:102039618-102039618 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.6619-19G>A SNV Likely benign 382362 rs747037096 14:102478193-102478193 14:102011856-102011856 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.2319G>A (p.Ala773=) SNV Likely benign 381048 rs201547070 11:9878049-9878049 11:9856502-9856502 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.13515+9G>A SNV Likely benign 382886 rs374678076 14:102515928-102515928 14:102049591-102049591 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1236-6G>A SNV Likely benign 385061 rs201538340 11:68700761-68700761 11:68933293-68933293 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1418+11C>T SNV Likely benign 377973 rs201279838 11:68700960-68700960 11:68933492-68933492 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.12513+17C>T SNV Likely benign 386750 rs368189529 14:102509102-102509102 14:102042765-102042765 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.1173A>G (p.Gln391=) SNV Likely benign 385969 rs17540735 14:102449567-102449567 14:101983230-101983230 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.903C>G (p.Val301=) SNV Likely benign 261421 rs748103823 12:110236668-110236668 12:109798863-109798863 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.3414C>T (p.Asn1138=) SNV Likely benign 258075 rs772761222 14:102461403-102461403 14:101995066-101995066 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.87-19A>G SNV Likely benign 258578 rs183650590 11:68673518-68673518 11:68906050-68906050 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.3498G>A (p.Pro1166=) SNV Likely benign 291571 rs140229905 1:10403293-10403293 1:10343235-10343235 CHR071 Charcot-Marie-Tooth Disease EGR2 NM_000399.5(EGR2):c.-1A>G SNV Likely benign 300281 rs553201646 10:64575790-64575790 10:62816030-62816030 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.406+15G>T SNV Likely benign 365011 rs201808404 9:130223551-130223551 9:127461272-127461272 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2467C>T (p.Arg823Cys) SNV Likely benign 305855 rs192806153 11:68704415-68704415 11:68936947-68936947 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.5231+14C>T SNV Likely benign 306577 rs371184526 11:9806658-9806658 11:9785111-9785111 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.954C>T (p.Asn318=) SNV Likely benign 365022 rs200527839 9:130242168-130242168 9:127479889-127479889 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.1225C>G (p.Gln409Glu) SNV Likely benign 365027 rs149540339 9:130248080-130248080 9:127485801-127485801 CHR071 Charcot-Marie-Tooth Disease TTR NM_000371.3(TTR):c.70-19G>A SNV Likely benign 389548 rs548935944 18:29172840-29172840 18:31592877-31592877 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*4036C>G SNV Likely benign 391561 rs577796628 19:40900428-40900428 19:40394521-40394521 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*745G>A SNV Likely benign 379671 rs371243093 19:40903719-40903719 19:40397812-40397812 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.4074+11A>T SNV Likely benign 385074 rs368040742 14:102466747-102466747 14:102000410-102000410 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.10414-13G>A SNV Likely benign 387816 rs17541421 14:102500300-102500300 14:102033963-102033963 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.10908+10G>A SNV Likely benign 385990 rs201277756 14:102502989-102502989 14:102036652-102036652 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.5(MTMR2):c.279T>C (p.Tyr93=) SNV Likely benign 383870 rs372937811 11:95595514-95595514 11:95862350-95862350 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.887+17G>A SNV Likely benign 392138 rs201259473 12:57892073-57892073 12:57498290-57498290 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2545G>A (p.Ala849Thr) SNV Likely benign 258572 rs2228208 11:68704493-68704493 11:68937025-68937025 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.816A>G (p.Leu272=) SNV Likely benign 258539 rs777128525 7:30649281-30649281 7:30609665-30609665 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1737C>T (p.Phe579=) SNV Likely benign 258534 rs752464405 7:30668213-30668213 7:30628597-30628597 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2836C>T (p.Arg946Trp) SNV Likely benign 245633 rs373943338 11:68707053-68707053 11:68939585-68939585 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.664C>T (p.Leu222=) SNV Likely benign 215945 rs147538736 19:50333181-50333181 19:49829924-49829924 CHR071 Charcot-Marie-Tooth Disease EGR2 NM_000399.5(EGR2):c.816C>A (p.Thr272=) SNV Likely benign 215735 rs863224359 10:64573582-64573582 10:62813822-62813822 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.723C>T (p.Phe241=) SNV Likely benign 220420 rs764912025 1:12059059-12059059 1:11999002-11999002 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1770C>T (p.Thr590=) SNV Likely benign 227505 rs397517896 1:156108350-156108350 1:156138559-156138559 CHR071 Charcot-Marie-Tooth Disease TTR NM_000371.4(TTR):c.337-13T>C SNV Likely benign 228190 rs762691667 18:29178518-29178518 18:31598555-31598555 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.486G>A (p.Leu162=) SNV Likely benign 163865 rs727503135 1:156100537-156100537 1:156130746-156130746 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.4(NEFL):c.423G>A (p.Gln141=) SNV Likely benign 66692 rs59161567 8:24813607-24813607 8:24956093-24956093 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.2180+20C>T SNV Likely benign 916998 6:110110900-110110900 6:109789697-109789697 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.1750+11A>C SNV Likely benign 917078 6:110088109-110088109 6:109766906-109766906 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1968+18dup duplication Likely benign 917027 1:156108563-156108564 1:156138772-156138773 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.645+10A>G SNV Likely benign 917387 1:161275888-161275888 1:161306098-161306098 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.447-16delinsTT indel Likely benign 917077 6:110053824-110053824 6:109732621-109732621 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.708+10C>T SNV Likely benign 916888 1:12058945-12058945 1:11998888-11998888 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.2043-4C>T SNV Likely benign 916758 1:10357228-10357228 1:10297170-10297170 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.2358+9C>T SNV Likely benign 916750 1:10381924-10381924 1:10321866-10321866 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.2537+15A>G SNV Likely benign 917344 1:10384135-10384135 1:10324077-10324077 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.53-17del deletion Likely benign 916969 5:148431820-148431820 5:149052257-149052257 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.52+4A>G SNV Likely benign 916970 5:148442530-148442530 5:149062967-149062967 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.66+18G>A SNV Likely benign 917073 6:110012722-110012722 6:109691519-109691519 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.289+17C>T SNV Likely benign 917075 6:110037788-110037788 6:109716585-109716585 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.2873-16C>T SNV Likely benign 916976 5:148406331-148406331 5:149026768-149026768 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.2873-17C>T SNV Likely benign 916979 5:148406332-148406332 5:149026769-149026769 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.1177+18T>A SNV Likely benign 917221 5:148408222-148408222 5:149028659-149028659 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.1136-12A>G SNV Likely benign 916851 5:148408293-148408293 5:149028730-149028730 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.731+17C>A SNV Likely benign 916848 5:148420962-148420962 5:149041399-149041399 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.280-4G>A SNV Likely benign 916977 5:148424205-148424205 5:149044642-149044642 CHR071 Charcot-Marie-Tooth Disease DNAJB2 NM_006736.6(DNAJB2):c.352+20C>G SNV Likely benign 917198 2:220146803-220146803 2:219282081-219282081 CHR071 Charcot-Marie-Tooth Disease DNAJB2 NM_006736.6(DNAJB2):c.353-9T>G SNV Likely benign 917199 2:220147550-220147550 2:219282828-219282828 CHR071 Charcot-Marie-Tooth Disease DNAJB2 NM_006736.6(DNAJB2):c.446-17C>G SNV Likely benign 917201 2:220147838-220147838 2:219283116-219283116 CHR071 Charcot-Marie-Tooth Disease DNAJB2 NM_006736.6(DNAJB2):c.620-19G>A SNV Likely benign 917202 2:220149335-220149335 2:219284613-219284613 CHR071 Charcot-Marie-Tooth Disease RAB7A NM_004637.6(RAB7A):c.400-17C>G SNV Likely benign 917245 3:128526369-128526369 3:128807526-128807526 CHR071 Charcot-Marie-Tooth Disease RAB7A NM_004637.6(RAB7A):c.529-11T>G SNV Likely benign 917246 3:128532159-128532159 3:128813316-128813316 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.3479-20C>T SNV Likely benign 916850 5:148386660-148386660 5:149007097-149007097 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.175-18G>T SNV Likely benign 916770 9:130219577-130219577 9:127457298-127457298 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.2377-20_2377-19insCT insertion Likely benign 916999 6:110113764-110113765 6:109792561-109792562 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.1044-20T>C SNV Likely benign 916772 9:130243442-130243442 9:127481163-127481163 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.1830+20A>G SNV Likely benign 917356 9:130258394-130258394 9:127496115-127496115 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.2046+16T>C SNV Likely benign 917353 9:130263438-130263438 9:127501159-127501159 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.1254+8del deletion Likely benign 917301 9:94800522-94800522 9:92038240-92038240 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.58-19G>C SNV Likely benign 916857 9:94874863-94874863 9:92112581-92112581 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.861+9T>A SNV Likely benign 917188 11:10022452-10022452 11:10000905-10000905 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.142-22dup duplication Likely benign 917184 11:10064541-10064542 11:10042994-10042995 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.450-13T>C SNV Likely benign 917330 11:68675989-68675989 11:68908521-68908521 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.548-19G>A SNV Likely benign 917327 11:68678889-68678889 11:68911421-68911421 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.1061-19G>A SNV Likely benign 917329 11:68696632-68696632 11:68929164-68929164 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.2377-18T>C SNV Likely benign 916993 6:110113767-110113767 6:109792564-109792564 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.881+17G>A SNV Likely benign 916883 7:30649363-30649363 7:30609747-30609747 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1032-14G>A SNV Likely benign 917321 7:30655498-30655498 7:30615882-30615882 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1700-13A>G SNV Likely benign 916885 7:30668163-30668163 7:30628547-30628547 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1809+8G>C SNV Likely benign 916884 7:30668293-30668293 7:30628677-30628677 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1809+13G>A SNV Likely benign 916880 7:30668298-30668298 7:30628682-30628682 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1809+16C>T SNV Likely benign 917318 7:30668301-30668301 7:30628685-30628685 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1904-19C>T SNV Likely benign 916882 7:30671844-30671844 7:30632228-30632228 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.364+9_364+20del deletion Likely benign 916736 7:75932401-75932412 7:76303084-76303095 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.365-5dup duplication Likely benign 916741 7:75933108-75933109 7:76303791-76303792 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.428+13G>T SNV Likely benign 916738 7:75933195-75933195 7:76303878-76303878 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.4(NDRG1):c.892-11G>A SNV Likely benign 917388 8:134254328-134254328 8:133242085-133242085 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.4(NDRG1):c.756-5_756-4delinsTG indel Likely benign 917156 8:134260173-134260174 8:133247930-133247931 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.4(NDRG1):c.756-13T>C SNV Likely benign 917394 8:134260182-134260182 8:133247939-133247939 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.4(NDRG1):c.699-16C>G SNV Likely benign 917389 8:134261030-134261030 8:133248787-133248787 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.4(NDRG1):c.389+13G>C SNV Likely benign 917392 8:134271398-134271398 8:133259155-133259155 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.4(NDRG1):c.206-17T>G SNV Likely benign 917157 8:134274427-134274427 8:133262184-133262184 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.4(NDRG1):c.100-3C>T SNV Likely benign 917155 8:134276898-134276898 8:133264655-133264655 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.4(NDRG1):c.-18-2_-18-1del deletion Likely benign 917391 8:134296573-134296574 8:133284330-133284331 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.1170-19C>T SNV Likely benign 916904 8:24811328-24811328 8:24953814-24953814 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.1169+14G>A SNV Likely benign 916907 8:24811681-24811681 8:24954167-24954167 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.118-16G>A SNV Likely benign 917007 8:75263493-75263493 8:74351258-74351258 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.311-7A>G SNV Likely benign 917006 8:75272365-75272365 8:74360130-74360130 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.6(MTMR2):c.1594-20C>A SNV Likely benign 916800 11:95569508-95569508 11:95836344-95836344 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.6(MTMR2):c.1387-19T>G SNV Likely benign 916892 11:95574892-95574892 11:95841728-95841728 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.6(MTMR2):c.655-19T>C SNV Likely benign 916893 11:95583932-95583932 11:95850768-95850768 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.6(MTMR2):c.654+5G>A SNV Likely benign 916799 11:95590711-95590711 11:95857547-95857547 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.6(MTMR2):c.358-39_358-16del deletion Likely benign 916894 11:95595282-95595305 11:95862118-95862141 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.6(MTMR2):c.358-42_358-18del deletion Likely benign 916895 11:95595284-95595308 11:95862120-95862144 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.528+15G>C SNV Likely benign 916774 9:130224667-130224667 9:127462388-127462388 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.5452-3T>C SNV Likely benign 917253 11:9802066-9802066 11:9780519-9780519 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.5451+8G>C SNV Likely benign 917185 11:9803046-9803046 11:9781499-9781499 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.5038-9C>G SNV Likely benign 917190 11:9806874-9806874 11:9785327-9785327 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.3456-22_3456-18del short repeat Likely benign 917249 11:9853985-9853989 11:9832438-9832442 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.2536+16A>T SNV Likely benign 917251 11:9875071-9875071 11:9853524-9853524 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.1711-9T>C SNV Likely benign 917260 11:9983662-9983662 11:9962115-9962115 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.1601-20T>C SNV Likely benign 917256 11:9985449-9985449 11:9963902-9963902 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.837-13A>G SNV Likely benign 917304 12:32755082-32755082 12:32602148-32602148 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.1191+7G>A SNV Likely benign 917302 12:32763775-32763775 12:32610841-32610841 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.1511+11C>T SNV Likely benign 917306 12:32772815-32772815 12:32619881-32619881 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.280-13C>T SNV Likely benign 917140 12:57883194-57883194 12:57489411-57489411 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.414+8G>A SNV Likely benign 917133 12:57883349-57883349 12:57489566-57489566 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.663+11G>A SNV Likely benign 917132 12:57884173-57884173 12:57490390-57490390 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.663+20C>T SNV Likely benign 917130 12:57884182-57884182 12:57490399-57490399 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.887+17G>C SNV Likely benign 917359 12:57892073-57892073 12:57498290-57498290 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.1824+14G>A SNV Likely benign 917308 12:110230443-110230443 12:109792638-109792638 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.1824+5G>A SNV Likely benign 916864 12:110230452-110230452 12:109792647-109792647 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.1585-15C>A SNV Likely benign 917068 12:110231420-110231420 12:109793615-109793615 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.1492-17C>T SNV Likely benign 917070 12:110231844-110231844 12:109794039-109794039 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.1297-13T>C SNV Likely benign 917248 11:10011155-10011155 11:9989608-9989608 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.2336+10G>C SNV Likely benign 917069 12:110224505-110224505 12:109786700-109786700 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.1537+9G>C SNV Likely benign 916747 11:68701390-68701390 11:68933922-68933922 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.1538-19G>A SNV Likely benign 916744 11:68701913-68701913 11:68934445-68934445 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.1538-11_1538-8del short repeat Likely benign 917332 11:68701914-68701917 11:68934446-68934449 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.1368+15C>T SNV Likely benign 917129 12:57898097-57898097 12:57504314-57504314 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.1369-14C>T SNV Likely benign 917138 12:57905467-57905467 12:57511684-57511684 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.2392-8T>A SNV Likely benign 917139 12:57909695-57909695 12:57515912-57515912 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.2557-14C>T SNV Likely benign 917131 12:57910204-57910204 12:57516421-57516421 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.2557-13C>A SNV Likely benign 917135 12:57910205-57910205 12:57516422-57516422 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.2557-13C>G SNV Likely benign 917134 12:57910205-57910205 12:57516422-57516422 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.2557-12C>G SNV Likely benign 917358 12:57910206-57910206 12:57516423-57516423 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.519-17A>G SNV Likely benign 917265 14:102446039-102446039 14:101979702-101979702 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.519-3dup duplication Likely benign 917266 14:102446048-102446049 14:101979711-101979712 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.1152+15dup duplication Likely benign 917312 12:110236399-110236400 12:109798594-109798595 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.1152+12G>T SNV Likely benign 916865 12:110236407-110236407 12:109798602-109798602 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.4(MED25):c.305+17T>G SNV Likely benign 917049 19:50322570-50322570 19:49819313-49819313 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.4(MED25):c.688+17G>A SNV Likely benign 917052 19:50333222-50333222 19:49829965-49829965 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.7848+13G>A SNV Likely benign 916960 14:102483349-102483349 14:102017012-102017012 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.8178-19C>T SNV Likely benign 916961 14:102484769-102484769 14:102018432-102018432 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.8343+9_8343+10del short repeat Likely benign 916963 14:102484960-102484961 14:102018623-102018624 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.8638-7dup duplication Likely benign 916965 14:102492897-102492898 14:102026560-102026561 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.8772-13C>T SNV Likely benign 916966 14:102493498-102493498 14:102027161-102027161 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.9048+16G>A SNV Likely benign 916967 14:102493897-102493897 14:102027560-102027560 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.9468+9A>G SNV Likely benign 917211 14:102494487-102494487 14:102028150-102028150 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.10626+12G>A SNV Likely benign 917213 14:102500537-102500537 14:102034200-102034200 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.10754+10C>T SNV Likely benign 917214 14:102500799-102500799 14:102034462-102034462 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.11595+20C>T SNV Likely benign 917218 14:102505903-102505903 14:102039566-102039566 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.12102+20C>T SNV Likely benign 917283 14:102508091-102508091 14:102041754-102041754 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.12276-17T>C SNV Likely benign 917284 14:102508704-102508704 14:102042367-102042367 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.13218+18G>A SNV Likely benign 917285 14:102514383-102514383 14:102048046-102048046 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.13372+14C>T SNV Likely benign 917286 14:102515020-102515020 14:102048683-102048683 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.13516-18G>C SNV Likely benign 917288 14:102516033-102516033 14:102049696-102049696 CHR071 Charcot-Marie-Tooth Disease LITAF NM_001136473.1(LITAF):c.377+3G>A SNV Likely benign 917348 16:11647386-11647386 16:11553530-11553530 CHR071 Charcot-Marie-Tooth Disease LITAF NM_001136473.1(LITAF):c.221-16C>T SNV Likely benign 917349 16:11647561-11647561 16:11553705-11553705 CHR071 Charcot-Marie-Tooth Disease TTR NM_000371.4(TTR):c.201-3T>C SNV Likely benign 917086 18:29175080-29175080 18:31595117-31595117 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.4(MED25):c.134+19A>G SNV Likely benign 917057 19:50321751-50321751 19:49818494-49818494 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.4(MED25):c.134+20C>T SNV Likely benign 916782 19:50321752-50321752 19:49818495-49818495 CHR071 Charcot-Marie-Tooth Disease PDK3 NM_005391.5(PDK3):c.249-9dup duplication Likely benign 917163 X:24516925-24516926 X:24498808-24498809 CHR071 Charcot-Marie-Tooth Disease PDK3 NM_005391.5(PDK3):c.674-11T>C SNV Likely benign 917164 X:24544304-24544304 X:24526187-24526187 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.4(MED25):c.1102-11C>G SNV Likely benign 916781 19:50334579-50334579 19:49831322-49831322 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.4(MED25):c.1317-16del deletion Likely benign 917045 19:50335340-50335340 19:49832083-49832083 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.4(MED25):c.1482+17G>A SNV Likely benign 917055 19:50335689-50335689 19:49832432-49832432 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.4(MED25):c.1675-18C>T SNV Likely benign 917047 19:50338773-50338773 19:49835516-49835516 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.4(MED25):c.1747-19_1747-18del deletion Likely benign 916784 19:50338965-50338966 19:49835708-49835709 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.4(MED25):c.1966-5C>T SNV Likely benign 916783 19:50339478-50339478 19:49836221-49836221 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.4(MED25):c.2146+6G>A SNV Likely benign 916785 19:50339669-50339669 19:49836412-49836412 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.4(MED25):c.2146+19G>T SNV Likely benign 917050 19:50339682-50339682 19:49836425-49836425 CHR071 Charcot-Marie-Tooth Disease AIFM1 NM_004208.4(AIFM1):c.1574-20G>T SNV Likely benign 916945 X:129264161-129264161 X:130130186-130130186 CHR071 Charcot-Marie-Tooth Disease AIFM1 NM_004208.4(AIFM1):c.249+1258T>C SNV Likely benign 916947 X:129289178-129289178 X:130155203-130155203 CHR071 Charcot-Marie-Tooth Disease PDK3 NM_005391.5(PDK3):c.249-14T>G SNV Likely benign 917165 X:24516932-24516932 X:24498815-24498815 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) SNV Likely benign 4802 rs119482084 9:94800624-94800624 9:92038342-92038342 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.300G>A (p.Val100=) SNV Likely benign 917180 19:40904608-40904608 19:40398701-40398701 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.1077C>G (p.Arg359=) SNV Likely benign 917183 19:40903182-40903182 19:40397275-40397275 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.861C>T (p.Ala287=) SNV Likely benign 916925 19:40903398-40903398 19:40397491-40397491 CHR071 Charcot-Marie-Tooth Disease AIFM1 NM_004208.4(AIFM1):c.*20C>A SNV Likely benign 916943 X:129263512-129263512 X:130129537-130129537 CHR071 Charcot-Marie-Tooth Disease AIFM1 NM_004208.4(AIFM1):c.1782C>T (p.Asp594=) SNV Likely benign 916944 X:129263592-129263592 X:130129617-130129617 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.107-11T>G SNV Likely benign 916749 1:10316294-10316294 1:10256236-10256236 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.4(MED25):c.1044C>T (p.Ser348=) SNV Likely benign 917046 19:50334087-50334087 19:49830830-49830830 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.4(MED25):c.1369C>T (p.Leu457=) SNV Likely benign 917141 19:50335409-50335409 19:49832152-49832152 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.4(MED25):c.1533C>T (p.Leu511=) SNV Likely benign 917051 19:50338293-50338293 19:49835036-49835036 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.4(MED25):c.558G>A (p.Arg186=) SNV Likely benign 917054 19:50333075-50333075 19:49829818-49829818 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.4(MED25):c.580C>T (p.Leu194=) SNV Likely benign 917044 19:50333097-50333097 19:49829840-49829840 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.4(MED25):c.168C>T (p.Asp56=) SNV Likely benign 917142 19:50321861-50321861 19:49818604-49818604 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.4(MED25):c.186G>A (p.Gly62=) SNV Likely benign 917053 19:50322434-50322434 19:49819177-49819177 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.1495+10del deletion Likely benign 916792 1:12064992-12064992 1:12004935-12004935 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.1717-15T>C SNV Likely benign 916791 1:12066580-12066580 1:12006523-12006523 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.1717-12T>G SNV Likely benign 916790 1:12066583-12066583 1:12006526-12006526 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.2069+18A>G SNV Likely benign 916789 1:12067324-12067324 1:12007267-12007267 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.2070-11C>T SNV Likely benign 916886 1:12069638-12069638 1:12009581-12009581 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.2070-8C>T SNV Likely benign 916890 1:12069641-12069641 1:12009584-12009584 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1157+15C>T SNV Likely benign 917028 1:156105927-156105927 1:156136136-156136136 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1489-16C>G SNV Likely benign 916768 1:156106888-156106888 1:156137097-156137097 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.3422+18T>C SNV Likely benign 917024 1:10397609-10397609 1:10337551-10337551 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.3688+7_3688+8dup duplication Likely benign 916761 1:10403350-10403351 1:10343292-10343293 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.3798-15G>A SNV Likely benign 916748 1:10407804-10407804 1:10347746-10347746 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.4305-17T>A SNV Likely benign 917022 1:10423324-10423324 1:10363266-10363266 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.4946+10C>T SNV Likely benign 917023 1:10431330-10431330 1:10371272-10371272 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.4947-13C>G SNV Likely benign 916753 1:10434361-10434361 1:10374303-10374303 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.5097-11G>T SNV Likely benign 916763 1:10434901-10434901 1:10374843-10374843 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.5409-16C>T SNV Likely benign 917342 1:10436587-10436587 1:10376529-10376529 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.1435-9C>T SNV Likely benign 917346 1:10351131-10351131 1:10291073-10291073 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.1671-4T>C SNV Likely benign 916756 1:10355714-10355714 1:10295656-10295656 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.1180+13A>G SNV Likely benign 916755 1:10338199-10338199 1:10278141-10278141 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.1180+19G>A SNV Likely benign 916754 1:10338205-10338205 1:10278147-10278147 CHR071 Charcot-Marie-Tooth Disease AIFM1 NM_004208.4(AIFM1):c.939C>T (p.Ser313=) SNV Likely benign 916946 X:129272596-129272596 X:130138621-130138621 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.4(MED25):c.1764G>A (p.Pro588=) SNV Likely benign 917048 19:50339001-50339001 19:49835744-49835744 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.4(MED25):c.2037G>A (p.Leu679=) SNV Likely benign 917056 19:50339554-50339554 19:49836297-49836297 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.*18C>G SNV Likely benign 917323 X:70444427-70444427 X:71224577-71224577 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.107-13T>C SNV Likely benign 916757 1:10316292-10316292 1:10256234-10256234 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.608+14T>G SNV Likely benign 917345 1:10327630-10327630 1:10267572-10267572 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.609-10G>A SNV Likely benign 916762 1:10328200-10328200 1:10268142-10268142 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.13404G>T (p.Thr4468=) SNV Likely benign 917287 14:102515808-102515808 14:102049471-102049471 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.5292C>T (p.Thr1764=) SNV Likely benign 916853 14:102471432-102471432 14:102005095-102005095 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.5649C>T (p.Pro1883=) SNV Likely benign 916854 14:102472440-102472440 14:102006103-102006103 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.5668T>C (p.Leu1890=) SNV Likely benign 916855 14:102472459-102472459 14:102006122-102006122 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.6240C>G (p.Leu2080=) SNV Likely benign 916856 14:102476631-102476631 14:102010294-102010294 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.7135C>T (p.Leu2379=) SNV Likely benign 916957 14:102481562-102481562 14:102015225-102015225 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.7179G>A (p.Glu2393=) SNV Likely benign 916958 14:102481606-102481606 14:102015269-102015269 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.7296G>C (p.Leu2432=) SNV Likely benign 916959 14:102482246-102482246 14:102015909-102015909 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.8262C>T (p.Ala2754=) SNV Likely benign 916962 14:102484872-102484872 14:102018535-102018535 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.8631G>A (p.Leu2877=) SNV Likely benign 916964 14:102489211-102489211 14:102022874-102022874 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.9072C>T (p.Asp3024=) SNV Likely benign 916968 14:102493979-102493979 14:102027642-102027642 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.9471G>T (p.Ala3157=) SNV Likely benign 917212 14:102495878-102495878 14:102029541-102029541 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.10995G>A (p.Gly3665=) SNV Likely benign 917215 14:102504883-102504883 14:102038546-102038546 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.11112C>T (p.Thr3704=) SNV Likely benign 917216 14:102505091-102505091 14:102038754-102038754 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.11424C>T (p.Cys3808=) SNV Likely benign 917217 14:102505555-102505555 14:102039218-102039218 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.11646C>G (p.Thr3882=) SNV Likely benign 917219 14:102506025-102506025 14:102039688-102039688 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.354G>T (p.Thr118=) SNV Likely benign 916815 17:15134363-15134363 17:15231046-15231046 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.402C>T (p.Phe134=) SNV Likely benign 916814 17:15134315-15134315 17:15230998-15230998 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.477C>T (p.Arg159=) SNV Likely benign 916813 17:15134240-15134240 17:15230923-15230923 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.13869C>T (p.Asp4623=) SNV Likely benign 917289 14:102516828-102516828 14:102050491-102050491 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.13899C>T (p.Arg4633=) SNV Likely benign 917290 14:102516858-102516858 14:102050521-102050521 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.4146C>T (p.Gly1382=) SNV Likely benign 917177 19:40900113-40900113 19:40394206-40394206 CHR071 Charcot-Marie-Tooth Disease TTR NM_000371.4(TTR):c.75C>T (p.Thr25=) SNV Likely benign 917085 18:29172864-29172864 18:31592901-31592901 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.1638A>G (p.Val546=) SNV Likely benign 916830 19:40902621-40902621 19:40396714-40396714 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.1695A>T (p.Pro565=) SNV Likely benign 916833 19:40902564-40902564 19:40396657-40396657 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.1695A>G (p.Pro565=) SNV Likely benign 916829 19:40902564-40902564 19:40396657-40396657 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.1986C>T (p.Val662=) SNV Likely benign 916928 19:40902273-40902273 19:40396366-40396366 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.1950C>T (p.Pro650=) SNV Likely benign 917178 19:40902309-40902309 19:40396402-40396402 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.1857A>G (p.Pro619=) SNV Likely benign 917182 19:40902402-40902402 19:40396495-40396495 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.2295C>T (p.Asp765=) SNV Likely benign 917181 19:40901964-40901964 19:40396057-40396057 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.2424G>A (p.Lys808=) SNV Likely benign 917179 19:40901835-40901835 19:40395928-40395928 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.2400G>A (p.Lys800=) SNV Likely benign 916926 19:40901859-40901859 19:40395952-40395952 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.2724G>T (p.Leu908=) SNV Likely benign 916831 19:40901535-40901535 19:40395628-40395628 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.2649G>A (p.Glu883=) SNV Likely benign 917175 19:40901610-40901610 19:40395703-40395703 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.3195C>T (p.Ser1065=) SNV Likely benign 916924 19:40901064-40901064 19:40395157-40395157 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.3423G>A (p.Ala1141=) SNV Likely benign 916832 19:40900836-40900836 19:40394929-40394929 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.3519A>C (p.Thr1173=) SNV Likely benign 917176 19:40900740-40900740 19:40394833-40394833 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.3768G>T (p.Val1256=) SNV Likely benign 916927 19:40900491-40900491 19:40394584-40394584 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.2931G>C (p.Leu977=) SNV Likely benign 916745 11:68707148-68707148 11:68939680-68939680 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.*18C>T SNV Likely benign 917331 11:68707217-68707217 11:68939749-68939749 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.2670C>T (p.Ala890=) SNV Likely benign 916746 11:68705708-68705708 11:68938240-68938240 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.406C>T (p.Leu136=) SNV Likely benign 917328 11:68675762-68675762 11:68908294-68908294 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.2070C>G (p.Ala690=) SNV Likely benign 917333 11:68704018-68704018 11:68936550-68936550 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.273G>T (p.Leu91=) SNV Likely benign 916743 11:68675629-68675629 11:68908161-68908161 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.78A>G (p.Lys26=) SNV Likely benign 917257 11:10215512-10215512 11:10193965-10193965 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.483C>T (p.Ala161=) SNV Likely benign 917300 9:94830325-94830325 9:92068043-92068043 CHR071 Charcot-Marie-Tooth Disease EGR2 NM_000399.5(EGR2):c.645G>A (p.Thr215=) SNV Likely benign 917061 10:64573753-64573753 10:62813993-62813993 CHR071 Charcot-Marie-Tooth Disease EGR2 NM_000399.5(EGR2):c.222A>C (p.Pro74=) SNV Likely benign 917062 10:64574176-64574176 10:62814416-62814416 CHR071 Charcot-Marie-Tooth Disease EGR2 NM_000399.5(EGR2):c.210G>A (p.Ser70=) SNV Likely benign 917063 10:64574188-64574188 10:62814428-62814428 CHR071 Charcot-Marie-Tooth Disease EGR2 NM_000399.5(EGR2):c.789T>C (p.Thr263=) SNV Likely benign 917059 10:64573609-64573609 10:62813849-62813849 CHR071 Charcot-Marie-Tooth Disease EGR2 NM_000399.5(EGR2):c.774G>A (p.Val258=) SNV Likely benign 917060 10:64573624-64573624 10:62813864-62813864 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.75G>A (p.Lys25=) SNV Likely benign 917089 8:75262771-75262771 8:74350536-74350536 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.123C>T (p.Arg41=) SNV Likely benign 917088 8:75263514-75263514 8:74351279-74351279 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.86T>C (p.Val29Ala) SNV Likely benign 916906 8:24813944-24813944 8:24956430-24956430 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.-19C>T SNV Likely benign 917008 8:75262678-75262678 8:74350443-74350443 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.894T>C (p.Asn298=) SNV Likely benign 917087 8:75276419-75276419 8:74364184-74364184 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.51C>T (p.Arg17=) SNV Likely benign 916773 9:130216857-130216857 9:127454578-127454578 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.330C>T (p.Asn110=) SNV Likely benign 916769 9:130223460-130223460 9:127461181-127461181 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.492T>C (p.Ile164=) SNV Likely benign 917005 8:75274126-75274126 8:74361891-74361891 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.609G>A (p.Lys203=) SNV Likely benign 917090 8:75275203-75275203 8:74362968-74362968 CHR071 Charcot-Marie-Tooth Disease EGR2 NM_000399.5(EGR2):c.843C>T (p.Thr281=) SNV Likely benign 917058 10:64573555-64573555 10:62813795-62813795 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.1440T>G (p.Thr480=) SNV Likely benign 917357 9:130253511-130253511 9:127491232-127491232 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.1518G>A (p.Glu506=) SNV Likely benign 917355 9:130255095-130255095 9:127492816-127492816 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.1581A>G (p.Glu527=) SNV Likely benign 917354 9:130255158-130255158 9:127492879-127492879 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.1083T>C (p.Asn361=) SNV Likely benign 916771 9:130243501-130243501 9:127481222-127481222 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.993C>T (p.Ser331=) SNV Likely benign 917299 9:94809542-94809542 9:92047260-92047260 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.2349G>C (p.Val783=) SNV Likely benign 917313 12:110222230-110222230 12:109784425-109784425 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.2157C>T (p.Gly719=) SNV Likely benign 917310 12:110226256-110226256 12:109788451-109788451 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.948A>C (p.Leu316=) SNV Likely benign 917259 11:10019840-10019840 11:9998293-9998293 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.1368G>A (p.Arg456=) SNV Likely benign 917189 11:10011071-10011071 11:9989524-9989524 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.2619T>C (p.Ile873=) SNV Likely benign 917252 11:9871757-9871757 11:9850210-9850210 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.2109T>C (p.Leu703=) SNV Likely benign 917255 11:9878259-9878259 11:9856712-9856712 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.4290C>T (p.Pro1430=) SNV Likely benign 917187 11:9829700-9829700 11:9808153-9808153 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.4101T>G (p.Thr1367=) SNV Likely benign 916941 11:9834133-9834133 11:9812586-9812586 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.4758G>A (p.Glu1586=) SNV Likely benign 917254 11:9810830-9810830 11:9789283-9789283 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.4635T>A (p.Ile1545=) SNV Likely benign 917186 11:9812166-9812166 11:9790619-9790619 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.4539C>T (p.Leu1513=) SNV Likely benign 917250 11:9817409-9817409 11:9795862-9795862 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.6(MTMR2):c.-16C>T SNV Likely benign 916798 11:95657134-95657134 11:95923970-95923970 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.5277T>G (p.Gly1759=) SNV Likely benign 917258 11:9805940-9805940 11:9784393-9784393 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.5043A>G (p.Gln1681=) SNV Likely benign 917247 11:9806860-9806860 11:9785313-9785313 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.6(MTMR2):c.684A>G (p.Thr228=) SNV Likely benign 916801 11:95583884-95583884 11:95850720-95850720 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.855A>G (p.Leu285=) SNV Likely benign 917267 14:102446781-102446781 14:101980444-101980444 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.1062A>G (p.Arg354=) SNV Likely benign 917268 14:102449456-102449456 14:101983119-101983119 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.3378G>A (p.Glu1126=) SNV Likely benign 916852 14:102461367-102461367 14:101995030-101995030 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.2112C>T (p.Ala704=) SNV Likely benign 917137 12:57908749-57908749 12:57514966-57514966 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.2220A>G (p.Thr740=) SNV Likely benign 917305 12:32793386-32793386 12:32640452-32640452 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.1731G>A (p.Leu577=) SNV Likely benign 917136 12:57906114-57906114 12:57512331-57512331 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.1198C>T (p.Leu400=) SNV Likely benign 917303 12:32764077-32764077 12:32611143-32611143 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.1413T>G (p.Val471=) SNV Likely benign 917307 12:32772706-32772706 12:32619772-32619772 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.396G>T (p.Pro132=) SNV Likely benign 917309 12:110246264-110246264 12:109808459-109808459 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.615C>A (p.Gly205=) SNV Likely benign 917071 12:110240893-110240893 12:109803088-109803088 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.1977G>A (p.Ser659=) SNV Likely benign 917072 12:110226436-110226436 12:109788631-109788631 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.2610G>A (p.Pro870=) SNV Likely benign 917311 12:110221432-110221432 12:109783627-109783627 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.834G>A (p.Glu278=) SNV Likely benign 916863 12:110238442-110238442 12:109800637-109800637 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.4(NDRG1):c.72C>T (p.Thr24=) SNV Likely benign 917395 8:134292502-134292502 8:133280259-133280259 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.4(NDRG1):c.1062C>G (p.Ser354=) SNV Likely benign 917154 8:134251244-134251244 8:133239001-133239001 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.4(NDRG1):c.1053A>C (p.Arg351=) SNV Likely benign 917390 8:134251253-134251253 8:133239010-133239010 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.*20A>C SNV Likely benign 916739 7:75933510-75933510 7:76304193-76304193 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1644A>G (p.Thr548=) SNV Likely benign 916881 7:30665880-30665880 7:30626264-30626264 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.2319T>C (p.Ser773=) SNV Likely benign 917079 6:110112717-110112717 6:109791514-109791514 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.-5C>T SNV Likely benign 916737 7:75932025-75932025 7:76302708-76302708 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.110G>C (p.Arg37Pro) SNV Likely benign 916740 7:75932139-75932139 7:76302822-76302822 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.1086G>A (p.Lys362=) SNV Likely benign 917159 8:24811778-24811778 8:24954264-24954264 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.1611A>G (p.Gln537=) SNV Likely benign 916902 8:24810344-24810344 8:24952831-24952831 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.4(NDRG1):c.766C>T (p.Leu256=) SNV Likely benign 917393 8:134260159-134260159 8:133247916-133247916 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.678G>T (p.Val226=) SNV Likely benign 916903 8:24813352-24813352 8:24955838-24955838 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.630G>A (p.Glu210=) SNV Likely benign 916905 8:24813400-24813400 8:24955886-24955886 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.612C>T (p.Leu204=) SNV Likely benign 917158 8:24813418-24813418 8:24955904-24955904 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.945A>G (p.Ser315=) SNV Likely benign 917220 5:148417914-148417914 5:149038351-149038351 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.105A>G (p.Lys35=) SNV Likely benign 917076 6:110036319-110036319 6:109715116-109715116 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.1584C>G (p.Ala528=) SNV Likely benign 916971 5:148407711-148407711 5:149028148-149028148 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.1890G>A (p.Pro630=) SNV Likely benign 916973 5:148407405-148407405 5:149027842-149027842 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.-14A>G SNV Likely benign 917322 7:30634524-30634524 7:30594908-30594908 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.129G>T (p.Pro43=) SNV Likely benign 917320 7:30634666-30634666 7:30595050-30595050 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.282A>G (p.Ala94=) SNV Likely benign 917319 7:30638471-30638471 7:30598855-30598855 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.1341T>C (p.Phe447=) SNV Likely benign 917074 6:110083363-110083363 6:109762160-109762160 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.1356T>C (p.Asp452=) SNV Likely benign 916996 6:110083378-110083378 6:109762175-109762175 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.1536G>T (p.Leu512=) SNV Likely benign 916994 6:110086317-110086317 6:109765114-109765114 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.252G>A (p.Ser84=) SNV Likely benign 916995 6:110037734-110037734 6:109716531-109716531 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.744G>A (p.Leu248=) SNV Likely benign 916997 6:110059625-110059625 6:109738422-109738422 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.687G>C (p.Leu229=) SNV Likely benign 916974 5:148421023-148421023 5:149041460-149041460 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.*1C>T SNV Likely benign 917384 1:161275665-161275665 1:161305875-161305875 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1092C>T (p.Asp364=) SNV Likely benign 917026 1:156105847-156105847 1:156136056-156136056 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.572T>G (p.Val191Gly) SNV Likely benign 916767 1:156104252-156104252 1:156134461-156134461 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.2130G>A (p.Leu710=) SNV Likely benign 916891 1:12069709-12069709 1:12009652-12009652 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.2028C>T (p.Val676=) SNV Likely benign 916887 1:12067265-12067265 1:12007208-12007208 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.3936T>C (p.Arg1312=) SNV Likely benign 916759 1:10408778-10408778 1:10348720-10348720 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.1968T>C (p.Pro656=) SNV Likely benign 916751 1:10357061-10357061 1:10297003-10297003 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.1476C>T (p.Thr492=) SNV Likely benign 916889 1:12064965-12064965 1:12004908-12004908 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.318C>T (p.Ser106=) SNV Likely benign 916788 1:12056219-12056219 1:11996162-11996162 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.2718T>C (p.Tyr906=) SNV Likely benign 916978 5:148406577-148406577 5:149027014-149027014 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.3531C>T (p.Tyr1177=) SNV Likely benign 916975 5:148386588-148386588 5:149007025-149007025 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.2184C>A (p.Gly728=) SNV Likely benign 916972 5:148407111-148407111 5:149027548-149027548 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.2535A>C (p.Ala845=) SNV Likely benign 916849 5:148406760-148406760 5:149027197-149027197 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.42G>A (p.Leu14=) SNV Likely benign 917386 1:161279654-161279654 1:161309864-161309864 CHR071 Charcot-Marie-Tooth Disease DNAJB2 NM_006736.6(DNAJB2):c.264T>C (p.Gly88=) SNV Likely benign 917197 2:220146695-220146695 2:219281973-219281973 CHR071 Charcot-Marie-Tooth Disease DNAJB2 NM_006736.6(DNAJB2):c.444C>T (p.Ser148=) SNV Likely benign 917200 2:220147650-220147650 2:219282928-219282928 CHR071 Charcot-Marie-Tooth Disease DNAJB2 NM_006736.6(DNAJB2):c.966C>G (p.Leu322=) SNV Likely benign 917203 2:220149700-220149700 2:219284978-219284978 CHR071 Charcot-Marie-Tooth Disease DNAJB2 NM_006736.6(DNAJB2):c.*17G>T SNV Likely benign 917204 2:220149726-220149726 2:219285004-219285004 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.174C>T (p.Val58=) SNV Likely benign 917383 1:161277108-161277108 1:161307318-161307318 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.531C>T (p.Tyr177=) SNV Likely benign 917385 1:161276172-161276172 1:161306382-161306382 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.78C>T (p.Cys26=) SNV Likely benign 696714 1:10292464-10292464 1:10232406-10232406 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.4524C>T (p.Thr1508=) SNV Likely benign 697365 1:10425478-10425478 1:10365420-10365420 CHR071 Charcot-Marie-Tooth Disease EGR2 NM_000399.5(EGR2):c.1395G>A (p.Pro465=) SNV Likely benign 696704 10:64573003-64573003 10:62813243-62813243 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.822G>A (p.Leu274=) SNV Likely benign 697969 9:130241703-130241703 9:127479424-127479424 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.3969G>A (p.Ser1323=) SNV Likely benign 698569 11:9838396-9838396 11:9816849-9816849 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.1854T>G (p.Thr618=) SNV Likely benign 697774 11:9983510-9983510 11:9961963-9961963 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.2092C>T (p.Leu698=) SNV Likely benign 699600 12:110226321-110226321 12:109788516-109788516 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.1827T>A (p.Ile609=) SNV Likely benign 698062 12:110230232-110230232 12:109792427-109792427 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.1404C>T (p.Ala468=) SNV Likely benign 697732 12:110232221-110232221 12:109794416-109794416 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.939C>T (p.Thr313=) SNV Likely benign 699935 14:102446865-102446865 14:101980528-101980528 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.1815C>T (p.Thr605=) SNV Likely benign 702053 1:12066693-12066693 1:12006636-12006636 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.42G>A (p.Lys14=) SNV Likely benign 700731 6:110012680-110012680 6:109691477-109691477 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.2241G>A (p.Pro747=) SNV Likely benign 698683 6:110112639-110112639 6:109791436-109791436 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.2097-10C>T SNV Likely benign 696058 6:110110787-110110787 6:109789584-109789584 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.1623G>A (p.Thr541=) SNV Likely benign 695916 11:9985407-9985407 11:9963860-9963860 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.760G>C (p.Val254Leu) SNV Likely benign 697188 12:110238516-110238516 12:109800711-109800711 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.732C>T (p.Ile244=) SNV Likely benign 696405 12:110238544-110238544 12:109800739-109800739 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.1491C>G (p.Pro497=) SNV Likely benign 697308 19:40902768-40902768 19:40396861-40396861 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.1113A>G (p.Glu371=) SNV Likely benign 697156 19:40903146-40903146 19:40397239-40397239 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.717G>T (p.Pro239=) SNV Likely benign 695271 19:40903542-40903542 19:40397635-40397635 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.2046G>A (p.Pro682=) SNV Likely benign 697114 19:50339563-50339563 19:49836306-49836306 CHR071 Charcot-Marie-Tooth Disease AIFM1 NM_004208.4(AIFM1):c.273_274inv (p.Glu92Lys) inversion Likely benign 696066 X:129283519-129283520 X:130149544-130149545 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.9330A>G (p.Thr3110=) SNV Likely benign 695423 14:102494340-102494340 14:102028003-102028003 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.1305G>C (p.Val435=) SNV Likely benign 668151 6:110083327-110083327 6:109762124-109762124 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.3522A>G (p.Thr1174=) SNV Likely benign 697283 5:148386597-148386597 5:149007034-149007034 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.1623G>A (p.Lys541=) SNV Likely benign 695254 5:148407672-148407672 5:149028109-149028109 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.252C>T (p.His84=) SNV Likely benign 917343 1:10318619-10318619 1:10258561-10258561 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.522T>C (p.Leu174=) SNV Likely benign 917025 1:10327530-10327530 1:10267472-10267472 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.606C>G (p.Ala202=) SNV Likely benign 916752 1:10327614-10327614 1:10267556-10267556 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.654C>T (p.His218=) SNV Likely benign 916760 1:10328255-10328255 1:10268197-10268197 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.807C>T (p.Thr269=) SNV Likely benign 698581 X:70444364-70444364 X:71224514-71224514 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.4(NDRG1):c.594+9C>T SNV Likely benign 700324 8:134266773-134266773 8:133254530-133254530 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.1160-7C>T SNV Likely benign 699098 9:130248008-130248008 9:127485729-127485729 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.2727C>T (p.Pro909=) SNV Likely benign 702943 1:10386220-10386220 1:10326162-10326162 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.543C>T (p.Cys181=) SNV Likely benign 703437 5:148421167-148421167 5:149041604-149041604 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1743G>C (p.Leu581=) SNV Likely benign 705450 7:30668219-30668219 7:30628603-30628603 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.689T>C (p.Val230Ala) SNV Likely benign 698750 19:50333345-50333345 19:49830088-49830088 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.10401T>A (p.Ala3467=) SNV Likely benign 701230 14:102499809-102499809 14:102033472-102033472 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.4059_4061GGA[8] (p.Glu1361dup) short repeat Likely benign 699561 19:40900179-40900180 19:40394272-40394273 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.5526C>A (p.Ile1842=) SNV Likely benign 704942 11:9801989-9801989 11:9780442-9780442 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.3450C>T (p.Cys1150=) SNV Likely benign 706272 11:9861050-9861050 11:9839503-9839503 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.201C>T (p.Leu67=) SNV Likely benign 702684 12:32735002-32735002 12:32582068-32582068 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.1860C>T (p.His620=) SNV Likely benign 702521 14:102452422-102452422 14:101986085-101986085 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.366G>A (p.Pro122=) SNV Likely benign 705391 17:15134351-15134351 17:15231034-15231034 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.1002-8C>T SNV Likely benign 702356 5:148411258-148411258 5:149031695-149031695 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.1272-10C>T SNV Likely benign 704961 6:110083284-110083284 6:109762081-109762081 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.10626+7A>G SNV Likely benign 702699 14:102500532-102500532 14:102034195-102034195 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.2028C>G (p.Val676=) SNV Likely benign 784848 9:130263404-130263404 9:127501125-127501125 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.1797G>A (p.Gly599=) SNV Likely benign 720494 14:102452359-102452359 14:101986022-101986022 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.4(NDRG1):c.856-9C>T SNV Likely benign 714466 8:134256642-134256642 8:133244399-133244399 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.2544C>T (p.Pro848=) SNV Likely benign 729255 11:68704492-68704492 11:68937024-68937024 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.1479C>T (p.Thr493=) SNV Likely benign 744141 11:68701323-68701323 11:68933855-68933855 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.5007G>A (p.Val1669=) SNV Likely benign 749743 11:9809211-9809211 11:9787664-9787664 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.261A>G (p.Pro87=) SNV Likely benign 744652 X:70443818-70443818 X:71223968-71223968 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1969-4T>C SNV Likely benign 745278 1:156108867-156108867 1:156139076-156139076 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1261C>T (p.Leu421=) SNV Likely benign 756494 1:156106108-156106108 1:156136317-156136317 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.420G>A (p.Glu140=) SNV Likely benign 756552 8:24813610-24813610 8:24956096-24956096 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.1573C>A (p.Arg525=) SNV Likely benign 763672 9:130255150-130255150 9:127492871-127492871 CHR071 Charcot-Marie-Tooth Disease NTRK1 NM_002529.3(NTRK1):c.574+1G>A SNV Likely benign 637365 1:156838042-156838042 1:156868250-156868250 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.441C>T (p.Ala147=) SNV Likely benign 637879 X:70443998-70443998 X:71224148-71224148 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.462T>C (p.Tyr154=) SNV Likely benign 637880 X:70444019-70444019 X:71224169-71224169 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.7979T>G (p.Val2660Gly) SNV Likely benign 694849 14:102483555-102483555 14:102017218-102017218 CHR071 Charcot-Marie-Tooth Disease SCN11A NM_001349253.2(SCN11A):c.1257G>T (p.Lys419Asn) SNV Likely benign 637857 3:38950530-38950530 3:38909039-38909039 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.151C>T (p.Pro51Ser) SNV Likely benign 543294 rs147869920 19:50321844-50321844 19:49818587-49818587 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.228C>T (p.Cys76=) SNV Likely benign 543263 rs770196362 19:50322476-50322476 19:49819219-49819219 CHR071 Charcot-Marie-Tooth Disease PDK3 NM_001142386.3(PDK3):c.751-10A>G SNV Likely benign 541116 rs372774822 X:24545681-24545681 X:24527564-24527564 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*1783G>A SNV Likely benign 543446 rs567690884 19:40902681-40902681 19:40396774-40396774 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.4(NEFL):c.321C>G (p.Arg107=) SNV Likely benign 533518 rs1198042093 8:24813709-24813709 8:24956195-24956195 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.1026_1027delinsTT (p.Leu342_Leu343=) indel Likely benign 540013 rs1554757292 9:130242240-130242241 9:127479961-127479962 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.280-5T>C SNV Likely benign 543508 rs368118378 11:10052722-10052722 11:10031175-10031175 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.2139C>T (p.Ile713=) SNV Likely benign 540015 rs373990000 9:130265145-130265145 9:127502866-127502866 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.5(MTMR2):c.297C>T (p.Gly99=) SNV Likely benign 543509 rs772347980 11:95595496-95595496 11:95862332-95862332 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.1899C>T (p.Val633=) SNV Likely benign 536871 rs753027239 12:110226514-110226514 12:109788709-109788709 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*952C>T SNV Likely benign 543474 rs3814289 19:40903512-40903512 19:40397605-40397605 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.1227A>G (p.Gln409=) SNV Likely benign 543270 rs769851706 19:50334715-50334715 19:49831458-49831458 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.1572C>T (p.Gly524=) SNV Likely benign 543264 rs559482732 19:50338332-50338332 19:49835075-49835075 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.336G>A (p.Val112=) SNV Likely benign 543470 rs369268369 19:40904572-40904572 19:40398665-40398665 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*4144G>A SNV Likely benign 543487 rs140109585 19:40900320-40900320 19:40394413-40394413 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*1334G>T SNV Likely benign 543498 rs754081921 19:40903130-40903130 19:40397223-40397223 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.2511C>G (p.Ala837=) SNV Likely benign 542182 rs780483586 12:57910075-57910075 12:57516292-57516292 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.261C>T (p.Asp87=) SNV Likely benign 539799 rs75113705 14:102442053-102442053 14:101975716-101975716 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.4176T>C (p.Gly1392=) SNV Likely benign 539793 rs112261870 14:102467392-102467392 14:102001055-102001055 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.6381T>C (p.Ile2127=) SNV Likely benign 539810 rs759525537 14:102476772-102476772 14:102010435-102010435 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.123G>A (p.Leu41=) SNV Likely benign 539797 rs1260546515 14:102431151-102431151 14:101964814-101964814 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.10083C>T (p.Asp3361=) SNV Likely benign 590077 rs772665813 14:102499405-102499405 14:102033068-102033068 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.5874C>T (p.Asp1958=) SNV Likely benign 589430 rs142726284 14:102474571-102474571 14:102008234-102008234 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.1299G>A (p.Leu433=) SNV Likely benign 588535 rs1566997875 14:102449784-102449784 14:101983447-101983447 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1596C>T (p.Ala532=) SNV Likely benign 466581 rs988590959 11:68701990-68701990 11:68934522-68934522 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.840C>T (p.Tyr280=) SNV Likely benign 467774 rs374624466 8:75276365-75276365 8:74364130-74364130 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.795C>T (p.Tyr265=) SNV Likely benign 456604 rs150756641 9:94812335-94812335 9:92050053-92050053 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1194_1195delinsCC (p.Phe399Leu) indel Likely benign 476882 rs1554121791 5:148408100-148408101 5:149028537-149028538 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.365-7C>G SNV Likely benign 465272 rs201897299 7:75933112-75933112 7:76303795-76303795 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.3(NDRG1):c.861G>A (p.Ala287=) SNV Likely benign 476849 rs150101908 8:134256628-134256628 8:133244385-133244385 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.529+8T>A SNV Likely benign 476908 rs780594631 5:148422249-148422249 5:149042686-149042686 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*2846C>A SNV Likely benign 476960 rs375201649 19:40901618-40901618 19:40395711-40395711 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.689-3C>T SNV Likely benign 476809 rs199623358 19:50333342-50333342 19:49830085-49830085 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.87C>T (p.Ile29=) SNV Likely benign 462782 rs201192820 17:15162502-15162502 17:15259185-15259185 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*999G>T SNV Likely benign 476981 rs374837022 19:40903465-40903465 19:40397558-40397558 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.3804+9C>T SNV Likely benign 472530 rs377635872 14:102463620-102463620 14:101997283-101997283 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.8202G>A (p.Val2734=) SNV Likely benign 472554 rs202023896 14:102484812-102484812 14:102018475-102018475 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.792G>A (p.Arg264=) SNV Likely benign 475430 rs141609469 12:57891961-57891961 12:57498178-57498178 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.4809C>T (p.His1603=) SNV Likely benign 476935 rs199670153 11:9810779-9810779 11:9789232-9789232 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.4687T>C (p.Leu1563=) SNV Likely benign 476932 rs563878786 11:9812114-9812114 11:9790567-9790567 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.2163G>C (p.Val721=) SNV Likely benign 475420 rs762587995 12:57908800-57908800 12:57515017-57515017 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.1962G>A (p.Glu654=) SNV Likely benign 476942 rs201822384 12:32791648-32791648 12:32638714-32638714 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.6535C>A (p.Arg2179=) SNV Likely benign 472546 rs147905977 14:102477206-102477206 14:102010869-102010869 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.117+12C>G SNV Likely benign 506605 rs202059380 8:75262825-75262825 8:74350590-74350590 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.720C>T (p.Cys240=) SNV Likely benign 514656 rs367790253 8:75276245-75276245 8:74364010-74364010 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.619+11G>A SNV Likely benign 510933 rs370502826 9:130230120-130230120 9:127467841-127467841 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.560+16G>A SNV Likely benign 511293 rs73512337 9:94830232-94830232 9:92067950-92067950 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.403-15T>G SNV Likely benign 511048 rs887143579 11:10051437-10051437 11:10029890-10029890 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.513+18A>T SNV Likely benign 516375 rs201201683 11:10051294-10051294 11:10029747-10029747 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2499G>A (p.Leu833=) SNV Likely benign 507857 rs371840404 11:68704447-68704447 11:68936979-68936979 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1032G>A (p.Ser344=) SNV Likely benign 515489 rs779452908 11:68685323-68685323 11:68917855-68917855 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.753-16T>C SNV Likely benign 510865 rs7128234 11:10022585-10022585 11:10001038-10001038 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.5(MTMR2):c.186+9A>G SNV Likely benign 512786 rs371081575 11:95621311-95621311 11:95888147-95888147 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.6222-20C>A SNV Likely benign 511211 rs200368499 14:102476593-102476593 14:102010256-102010256 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.12594A>T (p.Pro4198=) SNV Likely benign 514761 rs143936619 14:102510292-102510292 14:102043955-102043955 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*2032C>T SNV Likely benign 508197 rs751816156 19:40902432-40902432 19:40396525-40396525 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*847C>A SNV Likely benign 507425 rs551628239 19:40903617-40903617 19:40397710-40397710 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.8637+9C>T SNV Likely benign 508887 rs202042156 14:102489226-102489226 14:102022889-102022889 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2612-14C>T SNV Likely benign 507553 rs200940488 11:68705636-68705636 11:68938168-68938168 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.1584+12G>T SNV Likely benign 516319 rs375908611 12:110231723-110231723 12:109793918-109793918 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.415-5C>A SNV Likely benign 508936 rs747351446 12:57883674-57883674 12:57489891-57489891 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.771-15C>G SNV Likely benign 513797 rs201328384 12:57891925-57891925 12:57498142-57498142 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.2112C>T (p.Asp704=) SNV Likely benign 513873 rs374371748 1:12069691-12069691 1:12009634-12009634 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.1809G>A (p.Gly603=) SNV Likely benign 507952 rs148280593 6:110098183-110098183 6:109776980-109776980 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.2873-18T>C SNV Likely benign 516658 rs113514936 5:148406333-148406333 5:149026770-149026770 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.1949-15C>T SNV Likely benign 506926 rs778444771 6:110107490-110107490 6:109786287-109786287 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1904-18T>C SNV Likely benign 509792 rs41275991 7:30671845-30671845 7:30632229-30632229 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.438C>T (p.Tyr146=) SNV Likely benign 513857 rs764884119 14:102445749-102445749 14:101979412-101979412 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.579T>C (p.Ala193=) SNV Likely benign 519381 rs749728556 1:156104259-156104259 1:156134468-156134468 CHR071 Charcot-Marie-Tooth Disease DNAJB2 NM_006736.6(DNAJB2):c.249A>G (p.Ala83=) SNV Likely benign 540533 rs576058376 2:220146680-220146680 2:219281958-219281958 CHR071 Charcot-Marie-Tooth Disease DCTN1 NM_004082.4(DCTN1):c.3558G>A (p.Met1186Ile) SNV Likely benign 536160 rs200834352 2:74589828-74589828 2:74362701-74362701 CHR071 Charcot-Marie-Tooth Disease RAB7A NM_004637.5(RAB7A):c.321C>T (p.Leu107=) SNV Likely benign 532743 rs749227632 3:128525355-128525355 3:128806512-128806512 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.918C>T (p.Cys306=) SNV Likely benign 543511 rs369159531 6:110064354-110064354 6:109743151-109743151 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3723G>A (p.Ala1241=) SNV Likely benign 543478 rs777895612 5:148384418-148384418 5:149004855-149004855 CHR071 Charcot-Marie-Tooth Disease FBXO38 NM_205836.3(FBXO38):c.931C>A (p.Leu311Ile) SNV Likely benign 541003 rs142117467 5:147788749-147788749 5:148409186-148409186 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.58G>A (p.Gly20Arg) SNV Likely benign 449454 rs764970185 12:110252544-110252544 12:109814739-109814739 CHR071 Charcot-Marie-Tooth Disease RAB7A NM_004637.5(RAB7A):c.21G>A (p.Val7=) SNV Likely benign 464094 rs140857794 3:128514231-128514231 3:128795388-128795388 CHR071 Charcot-Marie-Tooth Disease RAB7A NM_004637.5(RAB7A):c.180+9A>G SNV Likely benign 464093 rs762831187 3:128516921-128516921 3:128798078-128798078 CHR071 Charcot-Marie-Tooth Disease DNAJB2 NM_006736.6(DNAJB2):c.703C>G (p.Gln235Glu) SNV Likely benign 439620 rs148615702 2:220149437-220149437 2:219284715-219284715 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.2459+7T>G SNV Likely benign 447335 rs575271308 6:110113874-110113874 6:109792671-109792671 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.837-16dup duplication Likely benign 418192 rs368420700 12:32755074-32755075 12:32602140-32602141 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.5(MTMR2):c.1770+7_1770+19delinsC indel Likely benign 418333 rs1555056865 11:95569293-95569305 11:95836129-95836141 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.2611-35AATC[6] short repeat Likely benign 418588 rs202029370 11:9871780-9871781 11:9850233-9850234 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1904-19del deletion Likely benign 420733 rs745958570 7:30671844-30671844 7:30632228-30632228 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.236C>T (p.Thr79Ile) SNV Likely benign 414873 rs145115430 12:32735037-32735037 12:32582103-32582103 CHR071 Charcot-Marie-Tooth Disease EGR2 NM_000399.5(EGR2):c.1242G>A (p.Lys414=) SNV Likely benign 415906 rs554456422 10:64573156-64573156 10:62813396-62813396 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.4(NEFL):c.1006C>G (p.Leu336Val) SNV Likely benign 417206 rs551896980 8:24813024-24813024 8:24955510-24955510 CHR071 Charcot-Marie-Tooth Disease EGR2 NM_000399.5(EGR2):c.222A>G (p.Pro74=) SNV Likely benign 415905 rs201068734 10:64574176-64574176 10:62814416-62814416 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1839C>T (p.Leu613=) SNV Likely benign 414374 rs182893450 5:148407456-148407456 5:149027893-149027893 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.4615-9C>T SNV Likely benign 414916 rs375366137 1:10428516-10428516 1:10368458-10368458 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*2512G>A SNV Likely benign 388104 rs148655811 19:40901952-40901952 19:40396045-40396045 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.1419T>C (p.Asp473=) SNV Likely benign 414912 rs146364486 1:10352147-10352147 1:10292089-10292089 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.4(NEFL):c.227T>C (p.Val76Ala) SNV Benign/Likely benign 66686 rs58907919 8:24813803-24813803 8:24956289-24956289 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.4(NEFL):c.667C>T (p.Leu223=) SNV Benign/Likely benign 66696 rs60156239 8:24813363-24813363 8:24955849-24955849 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.4(NEFL):c.1212C>T (p.Ser404=) SNV Benign/Likely benign 66673 rs60547413 8:24811267-24811267 8:24953753-24953753 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.4(NEFL):c.1402G>A (p.Asp468Asn) SNV Benign/Likely benign 66676 rs57153321 8:24811077-24811077 8:24953563-24953563 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.612G>A (p.Leu204=) SNV Benign/Likely benign 48071 rs12117552 1:156104292-156104292 1:156134501-156134501 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1911C>T (p.Phe637=) SNV Benign/Likely benign 48055 rs117939448 1:156108491-156108491 1:156138700-156138700 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1584G>A (p.Thr528=) SNV Benign/Likely benign 48044 rs80356812 1:156106999-156106999 1:156137208-156137208 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) SNV Benign/Likely benign 126480 rs187864727 12:110240859-110240859 12:109803054-109803054 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.13372+4C>T SNV Benign/Likely benign 128931 rs17541657 14:102515010-102515010 14:102048673-102048673 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.13372+9G>A SNV Benign/Likely benign 128932 rs1004903 14:102515015-102515015 14:102048678-102048678 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=) SNV Benign/Likely benign 128933 rs17512082 14:102453876-102453876 14:101987539-101987539 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) SNV Benign/Likely benign 128935 rs12893215 14:102463407-102463407 14:101997070-101997070 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) SNV Benign/Likely benign 128936 rs34690489 14:102466430-102466430 14:102000093-102000093 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) SNV Benign/Likely benign 128937 rs17540957 14:102466655-102466655 14:102000318-102000318 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=) SNV Benign/Likely benign 128938 rs2273437 14:102431074-102431074 14:101964737-101964737 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=) SNV Benign/Likely benign 128939 rs3818188 14:102446161-102446161 14:101979824-101979824 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) SNV Benign/Likely benign 128940 rs17512439 14:102481564-102481564 14:102015227-102015227 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=) SNV Benign/Likely benign 128941 rs17541158 14:102482399-102482399 14:102016062-102016062 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) SNV Benign/Likely benign 128942 rs17541179 14:102482736-102482736 14:102016399-102016399 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=) SNV Benign/Likely benign 128943 rs17512460 14:102483120-102483120 14:102016783-102016783 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) SNV Benign/Likely benign 128944 rs8010870 14:102493761-102493761 14:102027424-102027424 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.4161A>G (p.Pro1387=) SNV Benign/Likely benign 129400 rs12125492 1:10421878-10421878 1:10361820-10361820 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) SNV Benign/Likely benign 128924 rs17512054 14:102453073-102453073 14:101986736-101986736 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=) SNV Benign/Likely benign 128927 rs17541505 14:102504838-102504838 14:102038501-102038501 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln) SNV Benign/Likely benign 128928 rs10129889 14:102508056-102508056 14:102041719-102041719 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=) SNV Benign/Likely benign 128929 rs13749 14:102514227-102514227 14:102047890-102047890 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.684C>T (p.Ser228=) SNV Benign/Likely benign 129619 rs34307129 1:161275729-161275729 1:161305939-161305939 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1157+16G>A SNV Benign/Likely benign 36474 rs534807 1:156105928-156105928 1:156136137-156136137 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1761G>A (p.Leu587=) SNV Benign/Likely benign 36477 rs80356813 1:156108341-156108341 1:156138550-156138550 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.51C>T (p.Ser17=) SNV Benign/Likely benign 36479 rs11549668 1:156084760-156084760 1:156114969-156114969 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) SNV Benign/Likely benign 188100 rs2230310 7:30649268-30649268 7:30609652-30609652 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.1711C>A (p.Pro571Thr) SNV Benign/Likely benign 188396 rs144693221 12:32778663-32778663 12:32625729-32625729 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.2691C>G (p.Asn897Lys) SNV Benign/Likely benign 188311 rs73795753 5:148406604-148406604 5:149027041-149027041 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.9G>A (p.Glu3=) SNV Benign/Likely benign 193215 rs77586767 7:75932038-75932038 7:76302721-76302721 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1179G>A (p.Met393Ile) SNV Benign/Likely benign 194091 rs12069578 1:12064067-12064067 1:12004010-12004010 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.1560C>T (p.Ile520=) SNV Benign/Likely benign 194280 rs61748364 12:32777927-32777927 12:32624993-32624993 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.854-4G>A SNV Benign/Likely benign 198246 rs371733585 12:110236721-110236721 12:109798916-109798916 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) SNV Benign/Likely benign 198352 rs138428684 14:102507911-102507911 14:102041574-102041574 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.3507G>A (p.Pro1169=) SNV Benign/Likely benign 196788 rs147318592 1:10403302-10403302 1:10343244-10343244 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.2323G>A (p.Gly775Ser) SNV Benign/Likely benign 194989 rs141330687 11:9878045-9878045 11:9856498-9856498 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.132C>T (p.Gly44=) SNV Benign/Likely benign 195162 rs78807992 11:68673582-68673582 11:68906114-68906114 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2730C>G (p.Gly910=) SNV Benign/Likely benign 194370 rs139416105 11:68705768-68705768 11:68938300-68938300 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1452G>A (p.Thr484=) SNV Benign/Likely benign 194409 rs150043585 1:12064941-12064941 1:12004884-12004884 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.1659C>G (p.Ala553=) SNV Benign/Likely benign 194438 rs188104446 12:32778611-32778611 12:32625677-32625677 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.688C>T (p.Arg230Cys) SNV Benign/Likely benign 157521 rs587781246 X:70444245-70444245 X:71224395-71224395 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.781-6A>G SNV Benign/Likely benign 139322 rs138268337 9:94812355-94812355 9:92050073-92050073 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.4(NEFL):c.1170-13T>C SNV Benign/Likely benign 138510 rs76347846 8:24811322-24811322 8:24953808-24953808 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*936C>T SNV Benign/Likely benign 138817 rs118071705 19:40903528-40903528 19:40397621-40397621 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.3292C>G (p.Leu1098Val) SNV Benign/Likely benign 138964 rs117957652 11:9861208-9861208 11:9839661-9839661 CHR071 Charcot-Marie-Tooth Disease AIFM1 NM_004208.4(AIFM1):c.1329C>T (p.Tyr443=) SNV Benign/Likely benign 136323 rs143792929 X:129267407-129267407 X:130133432-130133432 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.1090A>T (p.Met364Leu) SNV Benign/Likely benign 137375 rs2295837 6:110064928-110064928 6:109743725-109743725 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.27C>T (p.Ile9=) SNV Benign/Likely benign 137376 rs141040807 6:110012665-110012665 6:109691462-109691462 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.256+9G>A SNV Benign/Likely benign 137568 rs118015540 11:68673715-68673715 11:68906247-68906247 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.2518G>A (p.Glu840Lys) SNV Benign/Likely benign 137726 rs55728855 12:110221524-110221524 12:109783719-109783719 CHR071 Charcot-Marie-Tooth Disease TTR NM_000371.3(TTR):c.70-7C>T SNV Benign/Likely benign 137848 rs587780990 18:29172852-29172852 18:31592889-31592889 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.408A>T (p.Val136=) SNV Benign/Likely benign 138210 rs78814413 1:12056309-12056309 1:11996252-11996252 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.150C>A (p.Ile50=) SNV Benign/Likely benign 138219 rs78841746 1:12049375-12049375 1:11989318-11989318 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.165C>T (p.Thr55=) SNV Benign/Likely benign 138220 rs77458527 1:12049390-12049390 1:11989333-11989333 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3362C>T (p.Ala1121Val) SNV Benign/Likely benign 234910 rs115577291 5:148388530-148388530 5:149008967-149008967 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.1543-8T>C SNV Benign/Likely benign 224946 rs115061722 12:32777902-32777902 12:32624968-32624968 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.1727C>G (p.Ala576Gly) SNV Benign/Likely benign 220933 rs193291405 19:50338843-50338843 19:49835586-49835586 CHR071 Charcot-Marie-Tooth Disease LITAF NM_001136473.1(LITAF):c.330C>T (p.Asn110=) SNV Benign/Likely benign 219573 rs139116481 16:11647436-11647436 16:11553580-11553580 CHR071 Charcot-Marie-Tooth Disease EGR2 NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) SNV Benign/Likely benign 219918 rs138967272 10:64573046-64573046 10:62813286-62813286 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.608+8dup duplication Benign/Likely benign 220468 rs139613776 1:10327623-10327624 1:10267565-10267566 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.4882G>A (p.Glu1628Lys) SNV Benign/Likely benign 219797 rs143669846 1:10434447-10434447 1:10374389-10374389 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.5112A>G (p.Ala1704=) SNV Benign/Likely benign 220407 rs75413741 1:10435065-10435065 1:10375007-10375007 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.66+10C>T SNV Benign/Likely benign 220332 rs200063827 6:110012714-110012714 6:109691511-109691511 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) SNV Benign/Likely benign 220422 rs62636572 7:30634548-30634548 7:30594932-30594932 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1962C>T (p.Ile654=) SNV Benign/Likely benign 219915 rs201927627 7:30671921-30671921 7:30632305-30632305 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.1794C>T (p.Ala598=) SNV Benign/Likely benign 215536 rs185100172 19:50339031-50339031 19:49835774-49835774 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1443C>T (p.Asp481=) SNV Benign/Likely benign 215534 rs146666910 5:148407852-148407852 5:149028289-149028289 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1806C>T (p.Ser602=) SNV Benign/Likely benign 214635 rs201258935 1:12066684-12066684 1:12006627-12006627 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1495+9C>T SNV Benign/Likely benign 215515 rs375494746 1:12064993-12064993 1:12004936-12004936 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.3497C>T (p.Pro1166Leu) SNV Benign/Likely benign 215882 rs141224290 1:10403292-10403292 1:10343234-10343234 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.2498A>G (p.Asn833Ser) SNV Benign/Likely benign 215533 rs116035946 12:110221544-110221544 12:109783739-109783739 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.2248G>A (p.Val750Ile) SNV Benign/Likely benign 215919 rs148171058 12:110224603-110224603 12:109786798-109786798 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.1546A>G (p.Ile516Val) SNV Benign/Likely benign 215918 rs115976458 12:110231773-110231773 12:109793968-109793968 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.1308C>T (p.Ile436=) SNV Benign/Likely benign 215532 rs141244183 12:110234354-110234354 12:109796549-109796549 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.769C>G (p.Leu257Val) SNV Benign/Likely benign 215921 rs56217500 12:110238507-110238507 12:109800702-109800702 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.712+10C>T SNV Benign/Likely benign 215920 rs115657305 12:110240786-110240786 12:109802981-109802981 CHR071 Charcot-Marie-Tooth Disease LITAF NM_001136473.1(LITAF):c.6G>A (p.Ser2=) SNV Benign/Likely benign 216599 rs147187481 16:11650581-11650581 16:11556725-11556725 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.165G>A (p.Thr55=) SNV Benign/Likely benign 195384 rs77400039 19:50321858-50321858 19:49818601-49818601 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) SNV Benign/Likely benign 210876 rs138407720 14:102481666-102481666 14:102015329-102015329 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.159C>T (p.Ser53=) SNV Benign/Likely benign 214639 rs61733200 1:12049384-12049384 1:11989327-11989327 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.11016G>A (p.Ser3672=) SNV Benign/Likely benign 210860 rs199679500 14:102504904-102504904 14:102038567-102038567 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.810+12C>T SNV Benign/Likely benign 200926 rs746914371 1:156104778-156104778 1:156134987-156134987 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.4395+2C>T SNV Benign/Likely benign 210869 rs192594531 14:102467693-102467693 14:102001356-102001356 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.2337C>T (p.Ser779=) SNV Benign/Likely benign 241609 rs140730386 11:9878031-9878031 11:9856484-9856484 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.1713C>G (p.Ile571Met) SNV Benign/Likely benign 241386 rs185933892 12:110230568-110230568 12:109792763-109792763 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.396G>A (p.Pro132=) SNV Benign/Likely benign 241388 rs114101785 12:110246264-110246264 12:109808459-109808459 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*2306G>A SNV Benign/Likely benign 242180 rs116855701 19:40902158-40902158 19:40396251-40396251 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=) SNV Benign/Likely benign 239002 rs117189734 14:102446275-102446275 14:101979938-101979938 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) SNV Benign/Likely benign 238992 rs80096622 14:102498790-102498790 14:102032453-102032453 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=) SNV Benign/Likely benign 238993 rs115992196 14:102508406-102508406 14:102042069-102042069 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1842C>T (p.Asp614=) SNV Benign/Likely benign 241500 rs138411915 5:148407453-148407453 5:149027890-149027890 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) SNV Benign/Likely benign 239028 rs61751217 7:75932207-75932207 7:76302890-76302890 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.567C>T (p.Ala189=) SNV Benign/Likely benign 239029 rs528301561 7:75933439-75933439 7:76304122-76304122 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.2107T>C (p.Trp703Arg) SNV Benign/Likely benign 240956 rs551543997 1:10381802-10381802 1:10321744-10321744 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.2192A>G (p.Asn731Ser) SNV Benign/Likely benign 240957 rs117525287 1:10381887-10381887 1:10321829-10321829 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.3917+6A>G SNV Benign/Likely benign 240958 rs76519832 1:10412800-10412800 1:10352742-10352742 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.4660G>A (p.Val1554Met) SNV Benign/Likely benign 240959 rs77172218 1:10428570-10428570 1:10368512-10368512 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.5294C>T (p.Pro1765Leu) SNV Benign/Likely benign 240960 rs61999305 1:10436626-10436626 1:10376568-10376568 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1031+14T>G SNV Benign/Likely benign 258530 rs189589556 7:30651875-30651875 7:30612259-30612259 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.-19C>T SNV Benign/Likely benign 258165 rs199602956 7:75932011-75932011 7:76302694-76302694 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.*14C>T SNV Benign/Likely benign 260444 rs114136062 6:110146482-110146482 6:109825279-109825279 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.808A>G (p.Thr270Ala) SNV Benign/Likely benign 260452 rs61729092 6:110062679-110062679 6:109741476-109741476 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1538-20C>T SNV Benign/Likely benign 258558 rs147148090 11:68701912-68701912 11:68934444-68934444 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2979G>A (p.Thr993=) SNV Benign/Likely benign 258574 rs201760315 11:68707196-68707196 11:68939728-68939728 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=) SNV Benign/Likely benign 258562 rs34617762 11:68673630-68673630 11:68906162-68906162 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1821C>T (p.His607=) SNV Benign/Likely benign 258563 rs34658653 11:68703769-68703769 11:68936301-68936301 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1827G>A (p.Ala609=) SNV Benign/Likely benign 258564 rs541245852 11:68703775-68703775 11:68936307-68936307 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.447-16G>T SNV Benign/Likely benign 260450 rs200890189 6:110053824-110053824 6:109732621-109732621 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.184-6_184-5del deletion Benign/Likely benign 260541 rs138324955 1:10318544-10318545 1:10258486-10258487 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.409G>A (p.Val137Ile) SNV Benign/Likely benign 246523 rs143421325 14:102445720-102445720 14:101979383-101979383 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.1539C>T (p.Gly513=) SNV Benign/Likely benign 245675 rs141295418 12:110231780-110231780 12:109793975-109793975 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.12513+10T>G SNV Benign/Likely benign 387817 rs17512839 14:102509095-102509095 14:102042758-102042758 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.7290C>T (p.Asn2430=) SNV Benign/Likely benign 382442 rs112811548 14:102482240-102482240 14:102015903-102015903 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.10293C>T (p.Asn3431=) SNV Benign/Likely benign 384931 rs75075497 14:102499701-102499701 14:102033364-102033364 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.1255-7C>T SNV Benign/Likely benign 367543 rs7863487 9:94797172-94797172 9:92034890-92034890 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.1254+10C>T SNV Benign/Likely benign 367544 rs200704785 9:94800520-94800520 9:92038238-92038238 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.452G>T (p.Arg151Leu) SNV Benign/Likely benign 367550 rs45461899 9:94830356-94830356 9:92068074-92068074 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.-5A>G SNV Benign/Likely benign 312615 rs17511858 14:102431024-102431024 14:101964687-101964687 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu) SNV Benign/Likely benign 312653 rs141696238 14:102506647-102506647 14:102040310-102040310 CHR071 Charcot-Marie-Tooth Disease EGR2 NM_000399.5(EGR2):c.246C>G (p.Val82=) SNV Benign/Likely benign 300279 rs144217451 10:64574152-64574152 10:62814392-62814392 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.549G>A (p.Glu183=) SNV Benign/Likely benign 307140 rs141908793 12:110246111-110246111 12:109808306-109808306 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.4096C>T (p.Pro1366Ser) SNV Benign/Likely benign 306584 rs115927577 11:9834138-9834138 11:9812591-9812591 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.6221+13G>T SNV Benign/Likely benign 312634 rs17541088 14:102476436-102476436 14:102010099-102010099 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_001243571.2(MTMR2):c.354+11T>C SNV Benign/Likely benign 306543 rs182582445 11:95591684-95591684 11:95858520-95858520 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.5(MTMR2):c.1805C>G (p.Ala602Gly) SNV Benign/Likely benign 306535 rs76784113 11:95568581-95568581 11:95835417-95835417 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.2611-35AATC[4] short repeat Benign/Likely benign 306594 rs202029370 11:9871781-9871784 11:9850234-9850237 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.751-8C>G SNV Benign/Likely benign 365018 rs367823841 9:130241205-130241205 9:127478926-127478926 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.2043C>T (p.Gly681=) SNV Benign/Likely benign 307124 rs375633647 12:110226370-110226370 12:109788565-109788565 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.760G>A (p.Val254Met) SNV Benign/Likely benign 307137 rs143548402 12:110238516-110238516 12:109800711-109800711 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.270C>T (p.Asp90=) SNV Benign/Likely benign 360002 rs369898799 7:30638459-30638459 7:30598843-30598843 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.699C>T (p.Val233=) SNV Benign/Likely benign 360004 rs187937286 7:30643152-30643152 7:30603536-30603536 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.387C>T (p.Gly129=) SNV Benign/Likely benign 367551 rs141265918 9:94842338-94842338 9:92080056-92080056 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.3(NDRG1):c.199A>G (p.Met67Val) SNV Benign/Likely benign 362040 rs2233319 8:134276796-134276796 8:133264553-133264553 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.1137-23GT[6] short repeat Benign/Likely benign 367546 rs147137401 9:94800660-94800661 9:92038378-92038379 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) SNV Benign/Likely benign 360012 rs17159287 7:30655643-30655643 7:30616027-30616027 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.3726+6A>C SNV Benign/Likely benign 291575 rs114266141 1:10407891-10407891 1:10347833-10347833 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.4808+9C>T SNV Benign/Likely benign 291583 rs72867431 1:10431329-10431329 1:10371271-10371271 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.3948T>C (p.Asp1316=) SNV Benign/Likely benign 291577 rs116089798 1:10421017-10421017 1:10360959-10360959 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.3121+9A>G SNV Benign/Likely benign 291566 rs149566646 1:10397270-10397270 1:10337212-10337212 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.3285-15A>T SNV Benign/Likely benign 291569 rs200470260 1:10399812-10399812 1:10339754-10339754 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*2248C>T SNV Benign/Likely benign 289454 rs56743160 19:40902216-40902216 19:40396309-40396309 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.1227G>A (p.Thr409=) SNV Benign/Likely benign 291522 rs17034660 1:10342522-10342522 1:10282464-10282464 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.363+6A>C SNV Benign/Likely benign 291468 rs114084418 1:10318736-10318736 1:10258678-10258678 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.238G>A (p.Ala80Thr) SNV Benign/Likely benign 287306 rs112507765 5:148427466-148427466 5:149047903-149047903 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.344C>T (p.Thr115Met) SNV Benign/Likely benign 287979 rs181657861 11:68675700-68675700 11:68908232-68908232 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile) SNV Benign/Likely benign 287303 rs141292904 9:94794758-94794758 9:92032476-92032476 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2295C>T (p.His765=) SNV Benign/Likely benign 284649 rs149185954 11:68704243-68704243 11:68936775-68936775 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.133C>G (p.Arg45Gly) SNV Benign/Likely benign 284652 rs115090201 19:40909664-40909664 19:40403757-40403757 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.1744C>T (p.Leu582=) SNV Benign/Likely benign 261415 rs35078611 12:110230537-110230537 12:109792732-109792732 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.1824+4C>T SNV Benign/Likely benign 283590 rs147259744 12:110230453-110230453 12:109792648-109792648 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3294C>T (p.Thr1098=) SNV Benign/Likely benign 351900 rs193067884 5:148389866-148389866 5:149010303-149010303 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.2913C>T (p.Ser971=) SNV Benign/Likely benign 351902 rs13436308 5:148406275-148406275 5:149026712-149026712 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.3(NDRG1):c.306C>T (p.Gly102=) SNV Benign/Likely benign 362039 rs2233322 8:134274310-134274310 8:133262067-133262067 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1420C>A (p.Arg474=) SNV Benign/Likely benign 360013 rs113958280 7:30661069-30661069 7:30621453-30621453 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.558C>T (p.Ser186=) SNV Benign/Likely benign 351917 rs141289653 5:148421152-148421152 5:149041589-149041589 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3834G>A (p.Ala1278=) SNV Benign/Likely benign 351895 rs117804174 5:148384307-148384307 5:149004744-149004744 CHR071 Charcot-Marie-Tooth Disease RAB7A NM_004637.5(RAB7A):c.87G>A (p.Val29=) SNV Benign/Likely benign 343157 rs145441548 3:128516819-128516819 3:128797976-128797976 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.2736C>T (p.Asp912=) SNV Benign/Likely benign 291563 rs150831576 1:10386367-10386367 1:10326309-10326309 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.504G>A (p.Val168=) SNV Benign/Likely benign 293313 rs145592910 1:161276199-161276199 1:161306409-161306409 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.891C>T (p.Ala297=) SNV Benign/Likely benign 292373 rs11554508 1:12061532-12061532 1:12001475-12001475 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.3260A>G (p.Tyr1087Cys) SNV Benign/Likely benign 291567 rs2297881 1:10397567-10397567 1:10337509-10337509 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.3285-15del deletion Benign/Likely benign 291568 rs3215996 1:10399812-10399812 1:10339754-10339754 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.*2T>C SNV Benign/Likely benign 291585 rs148690591 1:10436647-10436647 1:10376589-10376589 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.-4-13G>T SNV Benign/Likely benign 292370 rs373679523 1:12049209-12049209 1:11989152-11989152 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.11400G>A (p.Gln3800=) SNV Benign/Likely benign 391785 rs182767009 14:102505531-102505531 14:102039194-102039194 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.573T>C (p.Leu191=) SNV Benign/Likely benign 385089 rs34771861 7:75933445-75933445 7:76304128-76304128 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.7587G>A (p.Ala2529=) SNV Benign/Likely benign 392442 rs201720217 14:102482799-102482799 14:102016462-102016462 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.*3G>A SNV Benign/Likely benign 381069 rs372949830 11:68707202-68707202 11:68939734-68939734 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.2472G>A (p.Ser824=) SNV Benign/Likely benign 378763 rs149988106 12:110221570-110221570 12:109783765-109783765 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.1658+15C>T SNV Benign/Likely benign 380668 rs200083069 12:110231317-110231317 12:109793512-109793512 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.1585-18C>T SNV Benign/Likely benign 380332 rs201974634 12:110231423-110231423 12:109793618-109793618 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.4(NEFL):c.855C>T (p.Thr285=) SNV Benign/Likely benign 383727 rs1065083 8:24813175-24813175 8:24955661-24955661 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.513+17G>C SNV Benign/Likely benign 378499 rs73410819 11:10051295-10051295 11:10029748-10029748 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.280-14C>T SNV Benign/Likely benign 380040 rs183195960 12:57883193-57883193 12:57489410-57489410 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.1294-5C>T SNV Benign/Likely benign 388761 rs149946100 12:57898003-57898003 12:57504220-57504220 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1294G>A (p.Ala432Thr) SNV Benign/Likely benign 386157 rs116012780 11:68700825-68700825 11:68933357-68933357 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1770T>C (p.Phe590=) SNV Benign/Likely benign 386158 rs138997061 11:68703718-68703718 11:68936250-68936250 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2025C>T (p.Thr675=) SNV Benign/Likely benign 381068 rs138396245 11:68703973-68703973 11:68936505-68936505 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.1974T>C (p.Ser658=) SNV Benign/Likely benign 387878 rs140336379 9:130263350-130263350 9:127501071-127501071 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.894C>T (p.Ile298=) SNV Benign/Likely benign 379795 rs779808918 5:148417965-148417965 5:149038402-149038402 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1177+10G>A SNV Benign/Likely benign 384797 rs139257109 5:148408230-148408230 5:149028667-149028667 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.2204+11G>A SNV Benign/Likely benign 382084 rs202080192 12:57908852-57908852 12:57515069-57515069 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1299G>A (p.Ser433=) SNV Benign/Likely benign 392398 rs140904010 5:148407996-148407996 5:149028433-149028433 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.12G>A (p.Pro4=) SNV Benign/Likely benign 378088 rs369823958 1:156084721-156084721 1:156114930-156114930 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.564C>T (p.Cys188=) SNV Benign/Likely benign 390697 rs536007087 1:12057443-12057443 1:11997386-11997386 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.*15G>A SNV Benign/Likely benign 378136 rs141339523 1:12071637-12071637 1:12011580-12011580 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*2169C>T SNV Benign/Likely benign 329271 rs118003416 19:40902295-40902295 19:40396388-40396388 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.1753+7A>G SNV Benign/Likely benign 374666 rs117914586 12:57906143-57906143 12:57512360-57512360 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.-6G>A SNV Benign/Likely benign 368624 rs201344743 X:70443552-70443552 X:71223702-71223702 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.507C>T (p.Asp169=) SNV Benign/Likely benign 368626 rs373334326 X:70444064-70444064 X:71224214-71224214 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*759G>A SNV Benign/Likely benign 329284 rs76756143 19:40903705-40903705 19:40397798-40397798 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*1830G>A SNV Benign/Likely benign 329274 rs139586219 19:40902634-40902634 19:40396727-40396727 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*4249G>C SNV Benign/Likely benign 329250 rs76088917 19:40900215-40900215 19:40394308-40394308 CHR071 Charcot-Marie-Tooth Disease AIFM1 NM_004208.4(AIFM1):c.72C>T (p.Cys24=) SNV Benign/Likely benign 367894 rs373609902 X:129299559-129299559 X:130165585-130165585 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*3907C>T SNV Benign/Likely benign 329255 rs139950446 19:40900557-40900557 19:40394650-40394650 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*4051G>A SNV Benign/Likely benign 329253 rs143289108 19:40900413-40900413 19:40394506-40394506 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.234C>G (p.Pro78=) SNV Benign/Likely benign 329878 rs74863643 19:50322482-50322482 19:49819225-49819225 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*1486C>T SNV Benign/Likely benign 329277 rs76960467 19:40902978-40902978 19:40397071-40397071 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*2980C>T SNV Benign/Likely benign 329262 rs201792838 19:40901484-40901484 19:40395577-40395577 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.79-6C>T SNV Benign/Likely benign 321862 rs201682989 17:15162516-15162516 17:15259199-15259199 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.732G>A (p.Ser244=) SNV Benign/Likely benign 308289 rs34555341 12:32754253-32754253 12:32601319-32601319 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=) SNV Benign/Likely benign 312639 rs139109090 14:102482360-102482360 14:102016023-102016023 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.2517C>T (p.Asp839=) SNV Benign/Likely benign 307121 rs546957932 12:110221525-110221525 12:109783720-109783720 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.1825-15C>T SNV Benign/Likely benign 307125 rs200602134 12:110230249-110230249 12:109792444-109792444 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.936G>A (p.Ala312=) SNV Benign/Likely benign 307135 rs202084699 12:110236635-110236635 12:109798830-109798830 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.4533A>G (p.Thr1511=) SNV Benign/Likely benign 306582 rs79251068 11:9817415-9817415 11:9795868-9795868 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.597C>A (p.Ala199=) SNV Benign/Likely benign 379339 rs149788020 19:50333114-50333114 19:49829857-49829857 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.3(NDRG1):c.879G>A (p.Pro293=) SNV Benign/Likely benign 416508 rs2233340 8:134256610-134256610 8:133244367-133244367 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.5(MTMR2):c.240A>C (p.Pro80=) SNV Benign/Likely benign 414070 rs201920176 11:95598787-95598787 11:95865623-95865623 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.93C>T (p.Tyr31=) SNV Benign/Likely benign 415890 rs61742955 19:50321691-50321691 19:49818434-49818434 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.2056C>T (p.Leu686=) SNV Benign/Likely benign 415888 rs201969940 19:50339573-50339573 19:49836316-49836316 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.1434G>A (p.Lys478=) SNV Benign/Likely benign 415889 rs181389801 19:50335624-50335624 19:49832367-49832367 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.57C>T (p.Pro19=) SNV Benign/Likely benign 440358 rs112408790 12:110252545-110252545 12:109814740-109814740 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.28G>C (p.Ala10Pro) SNV Benign/Likely benign 440359 rs376436045 12:110252574-110252574 12:109814769-109814769 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.4509C>T (p.Ser1503=) SNV Benign/Likely benign 434970 rs116089522 14:102467985-102467985 14:102001648-102001648 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.6762C>T (p.Ile2254=) SNV Benign/Likely benign 434973 rs150603103 14:102478355-102478355 14:102012018-102012018 CHR071 Charcot-Marie-Tooth Disease DNAJB2 NM_006736.6(DNAJB2):c.298G>A (p.Glu100Lys) SNV Benign/Likely benign 473302 rs139406455 2:220146729-220146729 2:219282007-219282007 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.4530C>T (p.Ser1510=) SNV Benign/Likely benign 543249 rs765541693 1:10425622-10425622 1:10365564-10365564 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.257-20A>G SNV Benign/Likely benign 506689 rs201905359 14:102442029-102442029 14:101975692-101975692 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.1278G>A (p.Thr426=) SNV Benign/Likely benign 493123 rs139179261 12:110234384-110234384 12:109796579-109796579 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.6795C>T (p.Tyr2265=) SNV Benign/Likely benign 472547 rs200339812 14:102478388-102478388 14:102012051-102012051 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.9762+9T>G SNV Benign/Likely benign 472566 rs376545350 14:102496284-102496284 14:102029947-102029947 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.901C>T (p.Arg301Cys) SNV Benign/Likely benign 475433 rs139661803 12:57892216-57892216 12:57498433-57498433 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3479-8A>G SNV Benign/Likely benign 476907 rs147800229 5:148386648-148386648 5:149007085-149007085 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.4(NEFL):c.582A>C (p.Glu194Asp) SNV Benign/Likely benign 464927 rs532240912 8:24813448-24813448 8:24955934-24955934 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.90T>C (p.His30=) SNV Benign/Likely benign 467775 rs555369956 8:75262786-75262786 8:74350551-74350551 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.1374+9C>T SNV Benign/Likely benign 543262 rs574703435 19:50335423-50335423 19:49832166-49832166 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.3015+18C>G SNV Benign/Likely benign 668740 14:102458028-102458028 14:101991691-101991691 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.30C>T (p.Leu10=) SNV Benign/Likely benign 637426 X:70443587-70443587 X:71223737-71223737 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.86+7G>C SNV Benign/Likely benign 755475 11:68671513-68671513 11:68904045-68904045 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.846C>G (p.Thr282=) SNV Benign/Likely benign 793749 9:130241727-130241727 9:127479448-127479448 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.819+14C>T SNV Benign/Likely benign 811694 19:50333489-50333489 19:49830232-49830232 CHR071 Charcot-Marie-Tooth Disease LITAF NM_001136473.1(LITAF):c.357C>T (p.Cys119=) SNV Benign/Likely benign 695951 16:11647409-11647409 16:11553553-11553553 CHR071 Charcot-Marie-Tooth Disease GJB1 NM_000166.6(GJB1):c.627G>T (p.Val209=) SNV Benign/Likely benign 696871 X:70444184-70444184 X:71224334-71224334 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.5097-9C>T SNV Benign/Likely benign 695344 1:10434903-10434903 1:10374845-10374845 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.1062C>T (p.Ser354=) SNV Benign/Likely benign 696876 19:50334105-50334105 19:49830848-49830848 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.9636C>G (p.Val3212=) SNV Benign/Likely benign 698968 14:102496043-102496043 14:102029706-102029706 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.4111G>C (p.Val1371Leu) SNV Benign/Likely benign 696933 11:9834123-9834123 11:9812576-9812576 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.4(MFN2):c.1529G>A (p.Arg510Gln) SNV Benign/Likely benign 696326 1:12065801-12065801 1:12005744-12005744 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.366C>T (p.His122=) SNV Benign 305832 rs144401213 11:68675722-68675722 11:68908254-68908254 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.726C>G (p.Ala242=) SNV Benign 305837 rs76690064 11:68682305-68682305 11:68914837-68914837 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.1515T>C (p.Ser505=) SNV Benign 308298 rs60803891 12:32777359-32777359 12:32624425-32624425 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.1636-7T>C SNV Benign 308299 rs11052113 12:32778581-32778581 12:32625647-32625647 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.435C>T (p.Asp145=) SNV Benign 308287 rs904582 12:32735236-32735236 12:32582302-32582302 CHR071 Charcot-Marie-Tooth Disease INF2 NM_022489.4(INF2):c.*10C>T SNV Benign 312713 rs142710295 14:105185140-105185140 14:104718803-104718803 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*2932C>T SNV Benign 329264 rs61735546 19:40901532-40901532 19:40395625-40395625 CHR071 Charcot-Marie-Tooth Disease SEPTIN9 NM_001113491.2(SEPTIN9):c.538G>A (p.Ala180Thr) SNV Benign 325546 rs199861986 17:75398602-75398602 17:77402520-77402520 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*2222A>G SNV Benign 329270 rs61735531 19:40902242-40902242 19:40396335-40396335 CHR071 Charcot-Marie-Tooth Disease AIFM1 NM_004208.4(AIFM1):c.606-15C>T SNV Benign 367890 rs191297808 X:129279559-129279559 X:130145584-130145584 CHR071 Charcot-Marie-Tooth Disease LITAF NM_001136473.1(LITAF):c.274A>G (p.Ile92Val) SNV Benign 317782 rs4280262 16:11647492-11647492 16:11553636-11553636 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.*59A>C SNV Benign 321859 rs13422 17:15134175-15134175 17:15230858-15230858 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*3423A>G SNV Benign 329259 rs61733451 19:40901041-40901041 19:40395134-40395134 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*676G>A SNV Benign 329288 rs4803335 19:40903788-40903788 19:40397881-40397881 CHR071 Charcot-Marie-Tooth Disease AIFM1 NM_004208.4(AIFM1):c.273T>C (p.Asp91=) SNV Benign 367892 rs1139851 X:129283520-129283520 X:130149545-130149545 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.485-20C>G SNV Benign 377919 rs73345392 8:75274099-75274099 8:74361864-74361864 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.2157C>T (p.Ile719=) SNV Benign 379521 rs34768188 9:130265163-130265163 9:127502884-127502884 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.4185+20C>T SNV Benign 385832 rs74948967 14:102467421-102467421 14:102001084-102001084 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.1500A>G (p.Lys500=) SNV Benign 381454 rs2290297 12:57905612-57905612 12:57511829-57511829 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=) SNV Benign 377819 rs17512783 14:102505540-102505540 14:102039203-102039203 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.873C>T (p.Ala291=) SNV Benign 385405 rs79531790 12:57892042-57892042 12:57498259-57498259 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=) SNV Benign 377816 rs138418906 14:102452149-102452149 14:101985812-101985812 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.12684+14A>G SNV Benign 377820 rs200392758 14:102510396-102510396 14:102044059-102044059 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.1242T>C (p.Ile414=) SNV Benign 355038 rs61729087 6:110081557-110081557 6:109760354-109760354 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.249C>T (p.Ile83=) SNV Benign 365009 rs2243906 9:130219669-130219669 9:127457390-127457390 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.*7C>T SNV Benign 355050 rs113946190 6:110146475-110146475 6:109825272-109825272 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.2235T>G (p.Ala745=) SNV Benign 351906 rs78120278 5:148407060-148407060 5:149027497-149027497 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1761G>A (p.Thr587=) SNV Benign 360015 rs3886641 7:30668237-30668237 7:30628621-30628621 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.1584+18G>C SNV Benign 261414 rs10850750 12:110231717-110231717 12:109793912-109793912 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.670A>C (p.Arg224=) SNV Benign 261420 rs3825394 12:110240838-110240838 12:109803033-109803033 CHR071 Charcot-Marie-Tooth Disease RAB7A NM_004637.5(RAB7A):c.423C>G (p.Ala141=) SNV Benign 285287 rs61758751 3:128526409-128526409 3:128807566-128807566 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.9469-20A>T SNV Benign 258076 rs2720210 14:102495856-102495856 14:102029519-102029519 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.4020G>A (p.Ser1340=) SNV Benign 284219 rs116302604 1:10421089-10421089 1:10361031-10361031 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.3(NDRG1):c.892-5C>T SNV Benign 362033 rs2233346 8:134254322-134254322 8:133242079-133242079 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.952A>G (p.Asn318Asp) SNV Benign 365021 rs1539567 9:130242166-130242166 9:127479887-127479887 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.1136+12A>G SNV Benign 367547 rs76562923 9:94808269-94808269 9:92045987-92045987 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.904-9C>T SNV Benign 365020 rs1539568 9:130242109-130242109 9:127479830-127479830 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.1912+5A>C SNV Benign 365033 rs2248822 9:130259618-130259618 9:127497339-127497339 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.2035G>A (p.Glu679Lys) SNV Benign 306602 rs7102464 11:9879838-9879838 11:9858291-9858291 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.548C>T (p.Ser183Leu) SNV Benign 365014 rs75690855 9:130230038-130230038 9:127467759-127467759 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.5(MTMR2):c.1756C>A (p.Arg586=) SNV Benign 306536 rs61735577 11:95569326-95569326 11:95836162-95836162 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_001243571.2(MTMR2):c.1288G>C (p.Glu430Gln) SNV Benign 306538 rs61735578 11:95571347-95571347 11:95838183-95838183 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.3111-6T>C SNV Benign 306587 rs16907139 11:9864323-9864323 11:9842776-9842776 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.2850C>T (p.Ile950=) SNV Benign 306592 rs74642088 11:9868587-9868587 11:9847040-9847040 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.854-5C>T SNV Benign 307136 rs116401333 12:110236722-110236722 12:109798917-109798917 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.93T>C (p.Phe31=) SNV Benign 301929 rs200263159 11:10215497-10215497 11:10193950-10193950 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2322A>G (p.Glu774=) SNV Benign 305852 rs11228414 11:68704270-68704270 11:68936802-68936802 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.1368G>A (p.Ala456=) SNV Benign 365028 rs34426300 9:130251743-130251743 9:127489464-127489464 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.993+8G>A SNV Benign 308292 rs12823621 12:32755259-32755259 12:32602325-32602325 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.1339-12C>T SNV Benign 308297 rs73083501 12:32772620-32772620 12:32619686-32619686 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.2532G>A (p.Ala844=) SNV Benign 380846 rs73344102 12:57910096-57910096 12:57516313-57516313 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.720+17C>T SNV Benign 260542 rs1339458 1:10328338-10328338 1:10268280-10268280 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.1162+18C>T SNV Benign 260540 rs41274456 1:10338204-10338204 1:10278146-10278146 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.647-18C>A SNV Benign 260451 rs2273752 6:110059510-110059510 6:109738307-109738307 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1939G>A (p.Val647Ile) SNV Benign 258565 rs77822399 11:68703887-68703887 11:68936419-68936419 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2011A>G (p.Thr671Ala) SNV Benign 258566 rs622082 11:68703959-68703959 11:68936491-68936491 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp) SNV Benign 258567 rs2236654 11:68704028-68704028 11:68936560-68936560 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2316C>T (p.Ser772=) SNV Benign 258570 rs546382 11:68704264-68704264 11:68936796-68936796 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.223G>A (p.Ala75Thr) SNV Benign 258568 rs2228206 11:68673673-68673673 11:68906205-68906205 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.602T>C (p.Leu201Ser) SNV Benign 258576 rs560096 11:68678962-68678962 11:68911494-68911494 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val) SNV Benign 258577 rs10896380 11:68682402-68682402 11:68914934-68914934 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.1418+18A>G SNV Benign 258556 rs112575423 11:68700967-68700967 11:68933499-68933499 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_001243571.2(MTMR2):c.915C>T (p.Thr305=) SNV Benign 260685 rs566204 11:95580926-95580926 11:95847762-95847762 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.5(MTMR2):c.8A>C (p.Lys3Thr) SNV Benign 260686 rs3824874 11:95657111-95657111 11:95923947-95923947 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.4571-6C>T SNV Benign 261940 rs2645029 11:9812236-9812236 11:9790689-9790689 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.2459-9T>G SNV Benign 261418 rs115373018 12:110221592-110221592 12:109783787-109783787 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.1554C>T (p.Val518=) SNV Benign 258560 rs11228413 11:68701948-68701948 11:68934480-68934480 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2782G>A (p.Glu928Lys) SNV Benign 258573 rs2275996 11:68705820-68705820 11:68938352-68938352 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.1948+3A>G SNV Benign 260447 rs10499054 6:110106234-110106234 6:109785031-109785031 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) SNV Benign 258532 rs1049402 7:30634661-30634661 7:30595045-30595045 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.747T>C (p.Tyr249=) SNV Benign 258538 rs7808770 7:30649212-30649212 7:30609596-30609596 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.2559G>A (p.Ser853=) SNV Benign 260449 rs1127771 6:110146303-110146303 6:109825100-109825100 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.*11C>T SNV Benign 258164 rs1058872 7:75933501-75933501 7:76304184-76304184 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_001135242.2(NDRG1):c.64-6T>C SNV Benign 259916 rs2272653 8:134292516-134292516 8:133280273-133280273 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.507T>G (p.Ser169=) SNV Benign 261065 rs11554166 8:75274141-75274141 8:74361906-74361906 CHR071 Charcot-Marie-Tooth Disease EGR2 NM_000399.5(EGR2):c.1086A>C (p.Arg362=) SNV Benign 256013 rs45602133 10:64573312-64573312 10:62813552-62813552 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.-2C>T SNV Benign 258555 rs4930624 11:68671419-68671419 11:68903951-68903951 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.57T>C (p.Leu19=) SNV Benign 258575 rs1249463 11:68671477-68671477 11:68904009-68904009 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.2095-6C>T SNV Benign 258536 rs2240401 7:30673345-30673345 7:30633729-30633729 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.186C>T (p.Pro62=) SNV Benign 240955 rs141998703 1:10318553-10318553 1:10258495-10258495 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.1830+6C>T SNV Benign 241837 rs75171318 9:130258380-130258380 9:127496101-127496101 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.2322C>T (p.Asp774=) SNV Benign 241503 rs17795193 5:148406973-148406973 5:149027410-149027410 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.387-4C>T SNV Benign 241387 rs12305439 12:110246277-110246277 12:109808472-109808472 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.81T>C (p.Gly27=) SNV Benign 241389 rs34599967 12:110252521-110252521 12:109814716-109814716 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.435C>G (p.Asp145Glu) SNV Benign 197374 rs904582 12:32735236-32735236 12:32582302-32582302 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=) SNV Benign 210863 rs17541519 14:102506064-102506064 14:102039727-102039727 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.970+19G>A SNV Benign 214633 rs75865135 1:12061630-12061630 1:12001573-12001573 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*1688G>C SNV Benign 215545 rs146789340 19:40902776-40902776 19:40396869-40396869 CHR071 Charcot-Marie-Tooth Disease PLD3 NM_181882.3(PRX):c.4059_4061GGA[6] (p.Glu1361del) short repeat Benign 215547 rs139624657 19:40900180-40900182 19:40394273-40394275 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.4059_4061GGA[6] (p.Glu1361del) short repeat Benign 215547 rs139624657 19:40900180-40900182 19:40394273-40394275 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.2205-13C>A SNV Benign 214638 rs76020240 1:12071540-12071540 1:12011483-12011483 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.1407G>A (p.Glu469=) SNV Benign 215429 rs543609297 8:24811072-24811072 8:24953558-24953558 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.95T>C (p.Leu32Pro) SNV Benign 217861 rs863223328 7:30634632-30634632 7:30595016-30595016 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.477T>A (p.Ser159=) SNV Benign 219800 rs77574155 5:148422309-148422309 5:149042746-149042746 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3472G>A (p.Val1158Ile) SNV Benign 221185 rs55853803 5:148388420-148388420 5:149008857-149008857 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.1173A>G (p.Ala391=) SNV Benign 220575 rs79470805 11:10014085-10014085 11:9992538-9992538 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.2433G>C (p.Ser811=) SNV Benign 219845 rs34071623 12:110222146-110222146 12:109784341-109784341 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.810G>A (p.Gly270=) SNV Benign 220190 rs147558344 12:110238466-110238466 12:109800661-109800661 CHR071 Charcot-Marie-Tooth Disease LITAF NM_001136473.1(LITAF):c.234G>A (p.Thr78=) SNV Benign 220753 rs9282774 16:11647532-11647532 16:11553676-11553676 CHR071 Charcot-Marie-Tooth Disease LITAF NM_001136473.1(LITAF):c.333C>T (p.Ala111=) SNV Benign 221057 rs34448402 16:11647433-11647433 16:11553577-11553577 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.1483-7C>T SNV Benign 221177 rs2017698 19:50338236-50338236 19:49834979-49834979 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*1256C>T SNV Benign 220690 rs73933276 19:40903208-40903208 19:40397301-40397301 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.836+10G>T SNV Benign 224958 rs41276676 12:32754367-32754367 12:32601433-32601433 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.5(MTMR2):c.1233G>A (p.Thr411=) SNV Benign 138271 rs113897932 11:95578270-95578270 11:95845106-95845106 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_001243571.2(MTMR2):c.-404+13C>T SNV Benign 138272 rs139510268 11:95657026-95657026 11:95923862-95923862 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.3(NDRG1):c.755+10T>C SNV Benign 138433 rs2233336 8:134260948-134260948 8:133248705-133248705 CHR071 Charcot-Marie-Tooth Disease NDRG1 NM_006096.3(NDRG1):c.756-5C>T SNV Benign 138434 rs2227262 8:134260174-134260174 8:133247931-133247931 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.744C>T (p.Leu248=) SNV Benign 138211 rs61733205 1:12059080-12059080 1:11999023-11999023 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.957C>T (p.Gly319=) SNV Benign 138212 rs41278632 1:12061598-12061598 1:12001541-12001541 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1039-19G>A SNV Benign 138213 rs74052923 1:12062020-12062020 1:12001963-12001963 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.1569C>T (p.Ser523=) SNV Benign 138215 rs1042837 1:12065841-12065841 1:12005784-12005784 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.1674+19C>T SNV Benign 138199 rs752522 19:50338453-50338453 19:49835196-49835196 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.2031G>A (p.Ala677=) SNV Benign 138200 rs57854058 19:50339548-50339548 19:49836291-49836291 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.-12A>G SNV Benign 138201 rs114843375 19:50321587-50321587 19:49818330-49818330 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.789T>C (p.Asp263=) SNV Benign 137722 rs3742034 12:110238487-110238487 12:109800682-109800682 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.795C>T (p.His265=) SNV Benign 137723 rs1344554 12:110238481-110238481 12:109800676-109800676 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.1153-10C>T SNV Benign 137724 rs149541389 12:110234519-110234519 12:109796714-109796714 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.2034C>T (p.Ile678=) SNV Benign 137725 rs3742037 12:110226379-110226379 12:109788574-109788574 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.1961T>C (p.Val654Ala) SNV Benign 137377 rs9885672 6:110107517-110107517 6:109786314-109786314 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.222+5C>T SNV Benign 137439 rs2072236 7:30634764-30634764 7:30595148-30595148 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1062T>C (p.Phe354=) SNV Benign 137440 rs11553502 7:30655542-30655542 7:30615926-30615926 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1613+9T>C SNV Benign 137441 rs75855065 7:30662087-30662087 7:30622471-30622471 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.1833T>C (p.Val611=) SNV Benign 137442 rs14270 7:30671087-30671087 7:30631471-30631471 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.2145A>G (p.Thr715=) SNV Benign 137443 rs4593 7:30673401-30673401 7:30633785-30633785 CHR071 Charcot-Marie-Tooth Disease GARS1 NM_002047.4(GARS1):c.93G>C (p.Leu31=) SNV Benign 137444 rs2529438 7:30634630-30634630 7:30595014-30595014 CHR071 Charcot-Marie-Tooth Disease AIFM1 NM_004208.4(AIFM1):c.1416T>C (p.Ala472=) SNV Benign 136324 rs141324245 X:129267320-129267320 X:130133345-130133345 CHR071 Charcot-Marie-Tooth Disease AIFM1 NM_004208.4(AIFM1):c.1833T>C (p.His611=) SNV Benign 136325 rs73556209 X:129263541-129263541 X:130129566-130129566 CHR071 Charcot-Marie-Tooth Disease DNAJB2 NM_006736.6(DNAJB2):c.66-14C>T SNV Benign 137118 rs2276638 2:220145286-220145286 2:219280564-219280564 CHR071 Charcot-Marie-Tooth Disease DNAJB2 NM_006736.6(DNAJB2):c.230-10G>A SNV Benign 137119 rs3731897 2:220146651-220146651 2:219281929-219281929 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.3015+18C>T SNV Benign 137182 rs2749894 14:102458028-102458028 14:101991691-101991691 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.1305G>A (p.Arg435=) SNV Benign 137368 rs10844253 12:32764184-32764184 12:32611250-32611250 CHR071 Charcot-Marie-Tooth Disease FGD4 NM_139241.3(FGD4):c.1518G>A (p.Ala506=) SNV Benign 137369 rs11052110 12:32777362-32777362 12:32624428-32624428 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.5(FIG4):c.67-7T>C SNV Benign 137374 rs56378532 6:110036274-110036274 6:109715071-109715071 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.3646C>G (p.Gln1216Glu) SNV Benign 138965 rs12574508 11:9853777-9853777 11:9832230-9832230 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.4933-15T>C SNV Benign 138966 rs75447733 11:9809300-9809300 11:9787753-9787753 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1350G>A (p.Pro450=) SNV Benign 139101 rs17722227 5:148407945-148407945 5:149028382-149028382 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3594A>G (p.Pro1198=) SNV Benign 139102 rs6871030 5:148386525-148386525 5:149006962-149006962 CHR071 Charcot-Marie-Tooth Disease SPTLC1 NM_006415.4(SPTLC1):c.560+16G>C SNV Benign 139321 rs73512337 9:94830232-94830232 9:92067950-92067950 CHR071 Charcot-Marie-Tooth Disease RAB7A NM_004637.5(RAB7A):c.219C>T (p.Leu73=) SNV Benign 138863 rs4548 3:128525253-128525253 3:128806410-128806410 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.909C>T (p.Pro303=) SNV Benign 138963 rs16907355 11:10019879-10019879 11:9998332-9998332 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.2113G>A (p.Val705Ile) SNV Benign 138217 rs142271930 1:12069692-12069692 1:12009635-12009635 CHR071 Charcot-Marie-Tooth Disease MFN2 NM_014874.3(MFN2):c.2204+15T>C SNV Benign 138218 rs77262016 1:12069798-12069798 1:12009741-12009741 CHR071 Charcot-Marie-Tooth Disease BICD2 NM_001003800.2(BICD2):c.1079C>T (p.Ala360Val) SNV Benign 155728 rs587777884 9:95481848-95481848 9:92719566-92719566 CHR071 Charcot-Marie-Tooth Disease BICD2 NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu) SNV Benign 155729 rs587777885 9:95480934-95480934 9:92718652-92718652 CHR071 Charcot-Marie-Tooth Disease SETX NM_015046.7(SETX):c.59G>A (p.Arg20His) SNV Benign 242635 rs79740039 9:135224757-135224757 9:132349370-132349370 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.33G>T (p.Gly11=) SNV Benign 195368 rs56092423 12:110252569-110252569 12:109814764-109814764 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys) SNV Benign 194368 rs17612126 11:68705674-68705674 11:68938206-68938206 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.2(IGHMBP2):c.2439G>A (p.Ala813=) SNV Benign 194204 rs624147 11:68704387-68704387 11:68936919-68936919 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.2087A>G (p.His696Arg) SNV Benign 193931 rs17109261 5:148407208-148407208 5:149027645-149027645 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.1684G>A (p.Val562Ile) SNV Benign 193925 rs56177950 12:110230597-110230597 12:109792792-109792792 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.1777+10C>T SNV Benign 177960 rs3753037 1:10355834-10355834 1:10295776-10295776 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.549G>C (p.Glu183Asp) SNV Benign 155753 rs141908793 12:110246111-110246111 12:109808306-109808306 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.810+13G>T SNV Benign 36480 rs11264444 1:156104779-156104779 1:156134988-156134988 CHR071 Charcot-Marie-Tooth Disease TTR NM_000371.3(TTR):c.337-18G>C SNV Benign 36892 rs36204272 18:29178513-29178513 18:31598550-31598550 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*2850T>C SNV Benign 130048 rs268671 19:40901614-40901614 19:40395707-40395707 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*2860T>C SNV Benign 130049 rs268672 19:40901604-40901604 19:40395697-40395697 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*2968A>G SNV Benign 130050 rs268673 19:40901496-40901496 19:40395589-40395589 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.306C>T (p.Thr102=) SNV Benign 130051 rs744389 19:40904602-40904602 19:40398695-40398695 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*3453C>G SNV Benign 130052 rs3745202 19:40901011-40901011 19:40395104-40395104 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*3599G>A SNV Benign 130053 rs268674 19:40900865-40900865 19:40394958-40394958 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1194T>C (p.Gly398=) SNV Benign 130296 rs1432793 5:148408101-148408101 5:149028538-149028538 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1402G>T (p.Ala468Ser) SNV Benign 130297 rs6875902 5:148407893-148407893 5:149028330-149028330 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.1587T>G (p.Arg529=) SNV Benign 130298 rs1432794 5:148407708-148407708 5:149028145-149028145 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.3594A>C (p.Pro1198=) SNV Benign 130299 rs6871030 5:148386525-148386525 5:149006962-149006962 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.3(SH3TC2):c.512G>A (p.Gly171Glu) SNV Benign 130300 rs17722293 5:148422274-148422274 5:149042711-149042711 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=) SNV Benign 129401 rs11121552 1:10435324-10435324 1:10375266-10375266 CHR071 Charcot-Marie-Tooth Disease AIFM1 NM_004208.4(AIFM1):c.918C>T (p.Ile306=) SNV Benign 136320 rs12014115 X:129272617-129272617 X:130138642-130138642 CHR071 Charcot-Marie-Tooth Disease AIFM1 NM_004208.4(AIFM1):c.996A>G (p.Gln332=) SNV Benign 136322 rs12007545 X:129271132-129271132 X:130137157-130137157 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.285C>G (p.Ala95=) SNV Benign 129399 rs12402052 1:10318652-10318652 1:10258594-10258594 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1698C>T (p.His566=) SNV Benign 48048 rs4641 1:156107534-156107534 1:156137743-156137743 CHR071 Charcot-Marie-Tooth Disease TTR NM_000371.3(TTR):c.*3_*11del deletion Benign 43452 rs143948820 18:29178641-29178649 18:31598678-31598686 CHR071 Charcot-Marie-Tooth Disease TTR NM_000371.4(TTR):c.360C>T (p.Ser120=) SNV Benign 43453 rs150127220 18:29178554-29178554 18:31598591-31598591 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.1338T>C (p.Asp446=) SNV Benign 48037 rs505058 1:156106185-156106185 1:156136394-156136394 CHR071 Charcot-Marie-Tooth Disease LMNA NM_170707.4(LMNA):c.861T>C (p.Ala287=) SNV Benign 48088 rs538089 1:156105028-156105028 1:156135237-156135237 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.447-3dup duplication Benign 694980 6:110053824-110053825 6:109732621-109732622 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.3(MED25):c.1482+19G>A SNV Benign 811662 19:50335691-50335691 19:49832434-49832434 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.3794-20C>T SNV Benign 811653 11:9838591-9838591 11:9817044-9817044 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.1983T>A (p.Phe661Leu) SNV Benign 917102 1:10357076-10357076 1:10297018-10297018 CHR071 Charcot-Marie-Tooth Disease NEFL NM_006158.5(NEFL):c.507G>A (p.Glu169=) SNV Benign 917396 8:24813523-24813523 8:24956009-24956009 CHR071 Charcot-Marie-Tooth Disease HSPB1 NM_001540.5(HSPB1):c.235C>T (p.Arg79Trp) SNV Benign 917324 7:75932264-75932264 7:76302947-76302947 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.36G>T (p.Lys12Asn) SNV Benign 916742 11:68671456-68671456 11:68903988-68903988 CHR071 Charcot-Marie-Tooth Disease PRX NM_181882.3(PRX):c.1836C>A (p.Ala612=) SNV Benign 917243 19:40902423-40902423 19:40396516-40396516 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.1222+16_1222+17del short repeat Benign 917112 1:10339210-10339211 1:10279152-10279153 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.1223-28C>T SNV Benign 917113 1:10342352-10342352 1:10282294-10282294 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.2043-9del deletion Benign 917114 1:10357207-10357207 1:10297149-10297149 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_001365951.3(KIF1B):c.4753-20C>A SNV Benign 917115 1:10428505-10428505 1:10368447-10368447 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.4(TRPV4):c.55C>T (p.Pro19Ser) SNV Benign 5003 rs3742030 12:110252547-110252547 12:109814742-109814742 CHR071 Charcot-Marie-Tooth Disease PDK3 NM_005391.5(PDK3):c.249-9del deletion Benign 917223 X:24516926-24516926 X:24498809-24498809 CHR071 Charcot-Marie-Tooth Disease TTR NM_000371.4(TTR):c.76G>A (p.Gly26Ser) SNV Benign 13452 rs1800458 18:29172865-29172865 18:31592902-31592902 CHR071 Charcot-Marie-Tooth Disease MED25 NM_030973.4(MED25):c.1101+24_1101+42dup duplication Benign 917143 19:50334159-50334160 19:49830902-49830903 CHR071 Charcot-Marie-Tooth Disease PMP22 NM_000304.4(PMP22):c.179-17G>A SNV Benign 916816 17:15142945-15142945 17:15239628-15239628 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.3960+16G>A SNV Benign 916862 14:102466497-102466497 14:102000160-102000160 CHR071 Charcot-Marie-Tooth Disease TRPV4 NM_021625.5(TRPV4):c.1333-16A>C SNV Benign 916866 12:110232308-110232308 12:109794503-109794503 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.1235+511T>C SNV Benign 917020 11:68697336-68697336 11:68929868-68929868 CHR071 Charcot-Marie-Tooth Disease IGHMBP2 NM_002180.3(IGHMBP2):c.1235+519C>T SNV Benign 917021 11:68697344-68697344 11:68929876-68929876 CHR071 Charcot-Marie-Tooth Disease MTMR2 NM_016156.6(MTMR2):c.186+19A>T SNV Benign 916896 11:95621301-95621301 11:95888137-95888137 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.579+417A>G SNV Benign 917091 8:75274630-75274630 8:74362395-74362395 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.1422+42_1422+43del short repeat Benign 916775 9:130251836-130251837 9:127489557-127489558 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.2377-19T>C SNV Benign 917081 6:110113766-110113766 6:109792563-109792563 CHR071 Charcot-Marie-Tooth Disease SH3TC2 NM_024577.4(SH3TC2):c.151+15_151+16del deletion Benign 917222 5:148431689-148431690 5:149052126-149052127 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.446+32dup duplication Benign 917314 6:110048489-110048490 6:109727286-109727287 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.447-17dup duplication Benign 917083 6:110053820-110053821 6:109732617-109732618 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.447-4_447-3dup duplication Benign 917084 6:110053824-110053825 6:109732621-109732622 CHR071 Charcot-Marie-Tooth Disease FIG4 NM_014845.6(FIG4):c.2377-20_2377-19insC insertion Benign 917082 6:110113765-110113766 6:109792562-109792563 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.12902+46G>A SNV Benign 674056 14:102510874-102510874 14:102044537-102044537 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.3333+23A>G SNV Benign 674075 14:102461209-102461209 14:101994872-101994872 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.4396-25A>G SNV Benign 674076 14:102467847-102467847 14:102001510-102001510 CHR071 Charcot-Marie-Tooth Disease GDAP1 NM_018972.4(GDAP1):c.117+28G>A SNV Benign 670530 8:75262841-75262841 8:74350606-74350606 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.750+33G>A SNV Benign 670497 9:130236243-130236243 9:127473964-127473964 CHR071 Charcot-Marie-Tooth Disease LRSAM1 NM_138361.5(LRSAM1):c.903+38T>C SNV Benign 670496 9:130241822-130241822 9:127479543-127479543 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.8344-30G>A SNV Benign 674077 14:102486200-102486200 14:102019863-102019863 CHR071 Charcot-Marie-Tooth Disease ARHGEF10 NM_014629.4(ARHGEF10):c.1110G>C (p.Leu370Phe) SNV Benign 618536 rs9657362 8:1833801-1833801 8:1885635-1885635 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.477C>T (p.Pro159=) SNV Benign 475426 rs117101415 12:57883741-57883741 12:57489958-57489958 CHR071 Charcot-Marie-Tooth Disease MARS1 NM_004990.4(MARS1):c.1812G>A (p.Gly604=) SNV Benign 475416 rs117633211 12:57906592-57906592 12:57512809-57512809 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.962-15dup duplication Benign 516950 rs3830914 14:102449338-102449339 14:101983001-101983002 CHR071 Charcot-Marie-Tooth Disease SBF2 NM_030962.3(SBF2):c.753-16T>A SNV Benign 518234 rs7128234 11:10022585-10022585 11:10001038-10001038 CHR071 Charcot-Marie-Tooth Disease DNAJB2 NM_006736.6(DNAJB2):c.446-8G>A SNV Benign 473303 rs3821039 2:220147847-220147847 2:219283125-219283125 CHR071 Charcot-Marie-Tooth Disease KIF1B NM_015074.3(KIF1B):c.2832C>A (p.Ile944=) SNV Benign 476784 rs78611156 1:10394623-10394623 1:10334565-10334565 CHR071 Charcot-Marie-Tooth Disease DYNC1H1 NM_001376.5(DYNC1H1):c.5433+17dup duplication Benign 420240 rs140185574 14:102471589-102471590 14:102005252-102005253 CHR071 Charcot-Marie-Tooth Disease PRX NM_020956.2(PRX):c.*2674G>A SNV Benign 378435 rs61733450 19:40901790-40901790 19:40395883-40395883 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.45T>G (p.Ala15=) SNV no interpretation for the single variant 637951 1:161279651-161279651 1:161309861-161309861 CHR071 Charcot-Marie-Tooth Disease MPZ NM_000530.8(MPZ):c.224A>T (p.Asp75Val) SNV Pathogenic 14184 rs121913597 1:161277058-161277058 1:161307268-161307268 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) SNV Pathogenic 14185 rs121913598 1:161277151-161277151 1:161307361-161307361 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.233C>T (p.Ser78Leu) SNV Pathogenic 14188 rs121913601 1:161277049-161277049 1:161307259-161307259 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.371C>T (p.Thr124Met) SNV Pathogenic 14181 rs121913595 1:161276575-161276575 1:161306785-161306785 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) SNV Pathogenic 14487 rs57318642 1:156106994-156106994 1:156137203-156137203 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.398G>T (p.Arg133Leu) SNV Pathogenic 14488 rs60864230 1:156100449-156100449 1:156130658-156130658 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) SNV Pathogenic 14489 rs57920071 1:156106775-156106775 1:156136984-156136984 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) SNV Pathogenic 14498 rs59885338 1:156105059-156105059 1:156135268-156135268 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1580G>A (p.Arg527His) SNV Pathogenic 14499 rs57520892 1:156106995-156106995 1:156137204-156137204 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy EGR2 NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) SNV Pathogenic 16752 rs104894161 10:64573323-64573323 10:62813563-62813563 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.187G>A (p.Val63Ile) SNV Pathogenic 21081 rs116840818 X:70443744-70443744 X:71223894-71223894 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) SNV Pathogenic 21082 rs116840819 X:70443780-70443780 X:71223930-71223930 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) SNV Pathogenic 21084 rs116840815 X:70443600-70443600 X:71223750-71223750 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.556G>A (p.Glu186Lys) SNV Pathogenic 21086 rs116840821 X:70444113-70444113 X:71224263-71224263 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy RETREG1 NM_001034850.2(RETREG1):c.18_19del (p.Pro7fs) deletion Pathogenic 21257 rs137852736 5:16617062-16617063 5:16616953-16616954 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1969G>A (p.Glu657Lys) SNV Pathogenic 21689 rs80338925 5:148407326-148407326 5:149027763-149027763 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) SNV Pathogenic 30029 rs387906738 14:102446843-102446843 14:101980506-101980506 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.694C>T (p.Arg232Cys) SNV Pathogenic 30472 rs387906904 12:110240814-110240814 12:109803009-109803009 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy ATL1 NM_001127713.1(ATL1):c.1065C>A (p.Asn355Lys) SNV Pathogenic 30579 rs1555365597 14:51089912-51089912 14:50623194-50623194 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.2121_2122dup (p.Leu708fs) duplication Pathogenic 30860 rs786200930 9:130265125-130265126 9:127502846-127502847 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.347T>G (p.Met116Arg) SNV Pathogenic 38411 rs281865060 8:75272408-75272408 8:74360173-74360173 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.893T>G (p.Met298Arg) SNV Pathogenic 38445 rs63749871 12:32755151-32755151 12:32602217-32602217 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy EGR2 NM_000399.5(EGR2):c.1142G>A (p.Arg381His) SNV Pathogenic 41008 rs281865137 10:64573256-64573256 10:62813496-62813496 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.244T>C (p.Tyr82His) SNV Pathogenic 41017 rs281865124 1:161276702-161276702 1:161306912-161306912 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr) SNV Pathogenic 41024 rs267607247 1:161275743-161275743 1:161305953-161305953 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) SNV Pathogenic 41236 rs58982919 8:24813737-24813737 8:24956223-24956223 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LITAF NM_001136473.1(LITAF):c.332C>G (p.Ala111Gly) SNV Pathogenic 41229 rs281865134 16:11647434-11647434 16:11553578-11553578 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.368A>G (p.His123Arg) SNV Pathogenic 50558 rs397515442 8:75272429-75272429 8:74360194-74360194 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.4(NEFL):c.1186G>A (p.Glu396Lys) SNV Pathogenic 66671 rs62636503 8:24811293-24811293 8:24953779-24953779 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.4(NEFL):c.23C>A (p.Pro8Gln) SNV Pathogenic 66687 rs61491953 8:24814007-24814007 8:24956493-24956493 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1908C>T (p.Ser636=) SNV Pathogenic 66875 rs80356814 1:156108488-156108488 1:156138697-156138697 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.4(NEFL):c.1319C>T (p.Pro440Leu) SNV Pathogenic 155738 rs587777882 8:24811160-24811160 8:24953646-24953646 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter) SNV Pathogenic 162194 rs372000714 11:68673588-68673588 11:68906120-68906120 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.2398C>A (p.Pro800Thr) SNV Pathogenic 187857 rs781249411 12:57909709-57909709 12:57515926-57515926 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.116C>T (p.Ala39Val) SNV Pathogenic 188136 rs786204095 X:70443673-70443673 X:71223823-71223823 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.4(NEFL):c.1261C>T (p.Arg421Ter) SNV Pathogenic 192322 rs191346286 8:24811218-24811218 8:24953704-24953704 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.746C>T (p.Ser249Phe) SNV Pathogenic 202171 rs794729198 1:12059082-12059082 1:11999025-11999025 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.499G>A (p.Gly167Arg) SNV Pathogenic 208149 rs121913586 1:161276204-161276204 1:161306414-161306414 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.487G>A (p.Gly163Arg) SNV Pathogenic 208148 rs281865128 1:161276216-161276216 1:161306426-161306426 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.181G>A (p.Asp61Asn) SNV Pathogenic 208146 rs797044845 1:161277101-161277101 1:161307311-161307311 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.1913-1G>A SNV Pathogenic 204301 rs756880678 9:130263288-130263288 9:127501009-127501009 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.279G>A (p.Lys93=) SNV Pathogenic 216120 rs776221160 5:148427425-148427425 5:149047862-149047862 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.305A>G (p.Glu102Gly) SNV Pathogenic 216038 rs779696968 X:70443862-70443862 X:71224012-71224012 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.646-10_650del deletion Pathogenic 217234 rs863225026 1:161275763-161275777 1:161305973-161305987 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.90C>G (p.Ile30Met) SNV Pathogenic 217235 rs770546306 1:161277192-161277192 1:161307402-161307402 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.327C>A (p.Cys109Ter) SNV Pathogenic 217237 rs863225028 17:15134390-15134390 17:15231073-15231073 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNAJB2 NM_006736.6(DNAJB2):c.352+1G>A SNV Pathogenic 217886 rs756614404 2:220146784-220146784 2:219282062-219282062 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MORC2 NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) SNV Pathogenic 218307 rs864309503 22:31337490-31337490 22:30941503-30941503 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MORC2 NM_001303256.3(MORC2):c.260C>T (p.Ser87Leu) SNV Pathogenic 218308 rs864309504 22:31345795-31345795 22:30949809-30949809 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.106A>T (p.Arg36Trp) SNV Pathogenic 221065 rs864622732 1:161277176-161277176 1:161307386-161307386 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3303del (p.Arg1101fs) deletion Pathogenic 220822 rs864622664 5:148389857-148389857 5:149010294-149010294 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3154C>T (p.Arg1052Ter) SNV Pathogenic 220408 rs370115218 5:148392197-148392197 5:149012634-149012634 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg) SNV Pathogenic 220419 rs770272088 7:75932279-75932279 7:76302962-76302962 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.579+1G>A SNV Pathogenic 220379 rs864622501 8:75274214-75274214 8:74361979-74361979 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.556G>T (p.Glu186Ter) SNV Pathogenic 234612 rs116840821 X:70444113-70444113 X:71224263-71224263 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.403A>C (p.Ile135Leu) SNV Pathogenic 243089 rs879253858 1:161276543-161276543 1:161306753-161306753 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1091G>A (p.Arg364Gln) SNV Pathogenic 245944 rs879254011 1:12062091-12062091 1:12002034-12002034 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1198C>T (p.Arg400Ter) SNV Pathogenic 245768 rs879253939 1:12064086-12064086 1:12004029-12004029 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.188_190del (p.Ser63del) deletion Pathogenic 246121 rs879254109 1:161277092-161277094 1:161307302-161307304 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.129_136del (p.Ser44fs) deletion Pathogenic 246122 rs760730366 1:161277146-161277153 1:161307356-161307363 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.584+2T>G SNV Pathogenic 246029 rs879254054 1:161276117-161276117 1:161306327-161306327 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.3(NDRG1):c.681dup (p.Ile228fs) duplication Pathogenic 246500 rs879254290 8:134262699-134262700 8:133250456-133250457 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter) SNV Pathogenic 245608 rs770501034 8:75276294-75276294 8:74364059-74364059 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1082T>C (p.Leu361Pro) SNV Pathogenic 245627 rs201060167 11:68696672-68696672 11:68929204-68929204 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.112G>A (p.Val38Met) SNV Pathogenic 245946 rs879254012 X:70443669-70443669 X:71223819-71223819 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.231G>A (p.Trp77Ter) SNV Pathogenic 246095 rs879254096 X:70443788-70443788 X:71223938-71223938 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.282C>A (p.His94Gln) SNV Pathogenic 245724 rs756000896 X:70443839-70443839 X:71223989-71223989 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.759del (p.Phe254fs) deletion Pathogenic 254668 rs764717219 6:110059638-110059638 6:109738435-109738435 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.541G>A (p.Val181Met) SNV Pathogenic 245705 rs879253909 X:70444098-70444098 X:71224248-71224248 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.643C>T (p.Arg215Trp) SNV Pathogenic 246098 rs879254099 X:70444200-70444200 X:71224350-71224350 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.501del (p.Glu168fs) deletion Pathogenic 280104 rs886041386 8:75274135-75274135 8:74361900-74361900 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.992C>A (p.Ser331Tyr) SNV Pathogenic 372788 rs267607087 9:94809543-94809543 9:92047261-92047261 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.2642A>G (p.Asn881Ser) SNV Pathogenic 377021 rs80338930 5:148406653-148406653 5:149027090-149027090 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.233C>G (p.Ser78Trp) SNV Pathogenic 411669 rs121913601 1:161277049-161277049 1:161307259-161307259 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1415A>G (p.His472Arg) SNV Pathogenic 410314 rs1060502838 7:30661064-30661064 7:30621448-30621448 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.579del (p.Lys193fs) deletion Pathogenic 406137 rs1060500979 8:75274211-75274211 8:74361976-74361976 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.101T>C (p.Met34Thr) SNV Pathogenic 406224 rs1060500998 X:70443658-70443658 X:71223808-71223808 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.1373dup (p.Leu458fs) duplication Pathogenic 419553 rs770043095 6:110083391-110083392 6:109762188-109762189 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_001304480.1(FGD4):c.2213_2217AAAAG[2] (p.Lys742fs) short repeat Pathogenic 419181 rs751035912 12:32786595-32786599 12:32633661-32633665 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.493C>T (p.His165Tyr) SNV Pathogenic 439897 rs119103262 1:12057372-12057372 1:11997315-11997315 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SLC12A6 NM_001365088.1(SLC12A6):c.2436+1del deletion Pathogenic 436730 rs515726215 15:34532861-34532861 15:34240660-34240660 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.957del (p.Phe320fs) deletion Pathogenic 448371 rs1554122541 5:148417902-148417902 5:149038339-149038339 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.539C>T (p.Thr180Ile) SNV Pathogenic 447531 rs1422978230 7:75933411-75933411 7:76304094-76304094 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*3491_*3561del deletion Pathogenic 448139 rs1555800610 19:40900903-40900973 19:40394996-40395066 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) SNV Pathogenic 447441 rs1555937020 X:70443621-70443621 X:71223771-71223771 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.266T>C (p.Leu89Pro) SNV Pathogenic 447428 rs1555937122 X:70443823-70443823 X:71223973-71223973 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.548G>A (p.Arg183His) SNV Pathogenic 447435 rs1555937233 X:70444105-70444105 X:71224255-71224255 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.622G>A (p.Glu208Lys) SNV Pathogenic 447439 rs1555937270 X:70444179-70444179 X:71224329-71224329 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln) SNV Pathogenic 449535 rs1323153568 8:75276454-75276454 8:74364219-74364219 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.256C>T (p.Gln86Ter) SNV Pathogenic 462792 rs1553259703 1:161276690-161276690 1:161306900-161306900 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.103G>A (p.Asp35Asn) SNV Pathogenic 462790 rs121913596 1:161277179-161277179 1:161307389-161307389 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe) SNV Pathogenic 476747 rs1554338260 7:30651830-30651830 7:30612214-30612214 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.304_306del (p.Glu102del) deletion Pathogenic 477594 rs1555937135 X:70443861-70443863 X:71224011-71224013 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.515C>T (p.Pro172Leu) SNV Pathogenic 477599 rs1555937218 X:70444072-70444072 X:71224222-71224222 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.77C>G (p.Ser26Trp) SNV Pathogenic 477604 rs587777876 X:70443634-70443634 X:71223784-71223784 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1813C>T (p.Arg605Ter) SNV Pathogenic 488694 rs991227431 11:68703761-68703761 11:68936293-68936293 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.392_393TG[1] (p.Trp132fs) short repeat Pathogenic 521808 rs1555937168 X:70443951-70443952 X:71224099-71224100 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.313A>G (p.Thr105Ala) SNV Pathogenic 543234 rs1553142428 1:12056214-12056214 1:11996157-11996157 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.434_437del (p.Tyr145fs) deletion Pathogenic 531677 rs1553259643 1:161276509-161276512 1:161306719-161306722 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.298C>T (p.Gln100Ter) SNV Pathogenic 531678 rs1553259683 1:161276648-161276648 1:161306858-161306858 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.152C>T (p.Ser51Phe) SNV Pathogenic 531693 rs1553259790 1:161277130-161277130 1:161307340-161307340 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NTRK1 NM_002529.3(NTRK1):c.638T>C (p.Leu213Pro) SNV Pathogenic 526734 rs747711259 1:156838360-156838360 1:156868568-156868568 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) SNV Pathogenic 533814 rs557327165 7:75932145-75932145 7:76302828-76302828 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.404C>A (p.Ser135Tyr) SNV Pathogenic 533813 rs28939680 7:75933158-75933158 7:76303841-76303841 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter) SNV Pathogenic 535790 rs1554547986 8:75274205-75274205 8:74361970-74361970 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.8G>A (p.Trp3Ter) SNV Pathogenic 543927 rs1555936989 X:70443565-70443565 X:71223715-71223715 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.491G>A (p.Arg164Gln) SNV Pathogenic 543920 rs1241595912 X:70444048-70444048 X:71224198-71224198 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) SNV Pathogenic 549681 rs1553259707 1:161276701-161276701 1:161306911-161306911 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1708C>T (p.Arg570Ter) SNV Pathogenic 561032 rs1000091588 11:68702842-68702842 11:68935374-68935374 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.638T>C (p.Ile213Thr) SNV Pathogenic 575481 rs1557524703 1:12058865-12058865 1:11998808-11998808 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.302G>A (p.Trp101Ter) SNV Pathogenic 570159 rs1017715903 1:161276644-161276644 1:161306854-161306854 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3596G>A (p.Trp1199Ter) SNV Pathogenic 579413 rs761972717 5:148386523-148386523 5:149006960-149006960 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.776G>A (p.Arg259His) SNV Pathogenic 577496 rs755065651 1:12059112-12059112 1:11999055-11999055 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.2251C>T (p.Gln751Ter) SNV Pathogenic 572169 rs1557539119 1:12071599-12071599 1:12011542-12011542 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1091G>C (p.Arg364Pro) SNV Pathogenic 572157 rs879254011 1:12062091-12062091 1:12002034-12002034 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.100A>G (p.Met34Val) SNV Pathogenic 565409 rs1569215061 X:70443657-70443657 X:71223807-71223807 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.524dup (p.Asn175fs) duplication Pathogenic 567945 rs1569215346 X:70444079-70444080 X:71224229-71224230 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.433del (p.Leu145fs) deletion Pathogenic 586346 rs1567698872 17:15134284-15134284 17:15230967-15230967 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.767A>G (p.His256Arg) SNV Pathogenic 618662 rs1476856429 8:75276292-75276292 8:74364057-74364057 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.307C>T (p.Gln103Ter) SNV Pathogenic 618333 rs1567704621 17:15142800-15142800 17:15239483-15239483 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NTRK1 NM_002529.3(NTRK1):c.1804C>T (p.Arg602Ter) SNV Pathogenic 620139 rs763758904 1:156846363-156846363 1:156876571-156876571 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.633C>A (p.Tyr211Ter) SNV Pathogenic 620115 rs1569215443 X:70444190-70444190 X:71224340-71224340 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.280C>G (p.Arg94Gly) SNV Pathogenic 637495 1:12052716-12052716 1:11992659-11992659 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.776G>T (p.Arg259Leu) SNV Pathogenic 637279 1:12059112-12059112 1:11999055-11999055 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.2037C>G (p.Tyr679Ter) SNV Pathogenic 637064 1:12067274-12067274 1:12007217-12007217 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NTRK1 NM_002529.3(NTRK1):c.543del (p.Leu183fs) deletion Pathogenic 637814 1:156838008-156838008 1:156868216-156868216 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NTRK1 NM_002529.3(NTRK1):c.2303C>T (p.Pro768Leu) SNV Pathogenic 637485 1:156851346-156851346 1:156881554-156881554 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.681A>T (p.Arg227Ser) SNV Pathogenic 637330 1:161275732-161275732 1:161305942-161305942 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.275T>C (p.Leu92Pro) SNV Pathogenic 637730 1:12052711-12052711 1:11992654-11992654 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.572_573AG[1] (p.Arg192fs) short repeat Pathogenic 637320 1:161276128-161276129 1:161306338-161306339 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.560del (p.Gln187fs) deletion Pathogenic 637770 1:161276143-161276143 1:161306353-161306353 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.296T>C (p.Ile99Thr) SNV Pathogenic 637349 1:161276650-161276650 1:161306860-161306860 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.197G>A (p.Trp66Ter) SNV Pathogenic 637507 1:161277085-161277085 1:161307295-161307295 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.130_137del (p.Ser44fs) deletion Pathogenic 637764 1:161277145-161277152 1:161307355-161307362 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.1A>G (p.Met1Val) SNV Pathogenic 637506 1:161279695-161279695 1:161309905-161309905 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.204C>A (p.Tyr68Ter) SNV Pathogenic 637508 1:161277078-161277078 1:161307288-161307288 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.316C>T (p.Arg106Cys) SNV Pathogenic 637797 1:161276630-161276630 1:161306840-161306840 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HINT1 NM_005340.7(HINT1):c.316C>T (p.Gln106Ter) SNV Pathogenic 637252 5:130495205-130495205 5:131159512-131159512 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.2989del (p.Arg997fs) deletion Pathogenic 637410 5:148406199-148406199 5:149026636-149026636 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.688del (p.Val230fs) deletion Pathogenic 637409 5:148421022-148421022 5:149041459-149041459 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.2299dup (p.Glu767fs) duplication Pathogenic 637500 6:110112694-110112695 6:109791491-109791492 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.171_172insGCGCCCT (p.Leu58fs) insertion Pathogenic 637505 7:75932200-75932201 7:76302883-76302884 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1378C>T (p.Gln460Ter) SNV Pathogenic 637510 5:148407917-148407917 5:149028354-149028354 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.505del (p.Met169fs) deletion Pathogenic 637259 7:75933377-75933377 7:76304060-76304060 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.116del (p.Lys39fs) deletion Pathogenic 637504 8:75262809-75262809 8:74350574-74350574 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.349dup (p.Tyr117fs) duplication Pathogenic 637122 8:75272409-75272410 8:74360174-74360175 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.928del (p.Arg310fs) deletion Pathogenic 637555 8:75276452-75276452 8:74364217-74364217 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy EGR2 NM_000399.5(EGR2):c.1141C>T (p.Arg381Cys) SNV Pathogenic 637524 10:64573257-64573257 10:62813497-62813497 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC2 NM_004863.3(SPTLC2):c.1151C>T (p.Ser384Phe) SNV Pathogenic 637418 14:78021668-78021668 14:77555325-77555325 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.1A>T (p.Met1Leu) SNV Pathogenic 637503 8:75262697-75262697 8:74350462-74350462 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.256C>T (p.Gln86Ter) SNV Pathogenic 637389 17:15142851-15142851 17:15239534-15239534 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.76del (p.Ser26fs) deletion Pathogenic 637827 17:15163969-15163969 17:15260652-15260652 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.320G>T (p.Gly107Val) SNV Pathogenic 637376 17:15134397-15134397 17:15231080-15231080 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.124_125dup (p.Phe43fs) duplication Pathogenic 637392 19:40909671-40909672 19:40403764-40403765 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.1173del (p.Arg392fs) deletion Pathogenic 637391 19:40903086-40903086 19:40397179-40397179 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*1295C>T SNV Pathogenic 637398 19:40903169-40903169 19:40397262-40397262 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*2069C>T SNV Pathogenic 637509 19:40902395-40902395 19:40396488-40396488 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.68T>C (p.Val23Ala) SNV Pathogenic 637585 X:70443625-70443625 X:71223775-71223775 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.89T>C (p.Ile30Thr) SNV Pathogenic 637215 X:70443646-70443646 X:71223796-71223796 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.119C>T (p.Ala40Val) SNV Pathogenic 637200 X:70443676-70443676 X:71223826-71223826 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.120_121AG[2] (p.Ser42fs) short repeat Pathogenic 637569 X:70443677-70443678 X:71223827-71223828 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.191G>A (p.Cys64Tyr) SNV Pathogenic 637608 X:70443748-70443748 X:71223898-71223898 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.238C>A (p.Gln80Lys) SNV Pathogenic 637563 X:70443795-70443795 X:71223945-71223945 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.238C>T (p.Gln80Ter) SNV Pathogenic 637135 X:70443795-70443795 X:71223945-71223945 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.281A>G (p.His94Arg) SNV Pathogenic 637565 X:70443838-70443838 X:71223988-71223988 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.381C>G (p.Ile127Met) SNV Pathogenic 637216 X:70443938-70443938 X:71224088-71224088 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.576del (p.Phe193fs) deletion Pathogenic 637162 X:70444133-70444133 X:71224283-71224283 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.556dup (p.Glu186fs) duplication Pathogenic 637173 X:70444112-70444113 X:71224262-71224263 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.629_632del (p.Val210fs) deletion Pathogenic 637163 X:70444186-70444189 X:71224336-71224339 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.785_786del (p.Ile262fs) deletion Pathogenic 637234 X:70444341-70444342 X:71224491-71224492 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.800del (p.Pro267fs) deletion Pathogenic 637165 X:70444355-70444355 X:71224505-71224505 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.822del (p.Glu275fs) deletion Pathogenic 637166 X:70444379-70444379 X:71224529-71224529 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.844dup (p.Ala282fs) duplication Pathogenic 637167 X:70444399-70444400 X:71224549-71224550 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1392+1G>A SNV Pathogenic 637063 1:12064671-12064671 1:12004614-12004614 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.68-5_71del deletion Pathogenic 637769 1:161277211-161277219 1:161307421-161307429 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1031+1G>A SNV Pathogenic 637502 7:30651862-30651862 7:30612246-30612246 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1809+1G>A SNV Pathogenic 637501 7:30668286-30668286 7:30628670-30628670 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.179-2A>G SNV Pathogenic 637829 17:15142930-15142930 17:15239613-15239613 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.1815del (p.Asp607fs) deletion Pathogenic 859441 9:130258359-130258359 9:127496080-127496080 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.198_199GC[1] (p.Arg67fs) short repeat Pathogenic 917144 1:161277081-161277082 1:161307291-161307292 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.2487_2488AG[1] (p.Glu830fs) short repeat Pathogenic 916840 5:148406803-148406806 5:149027240-149027243 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.2095C>T (p.Gln699Ter) SNV Pathogenic 916841 5:148407200-148407200 5:149027637-149027637 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.1801del (p.Thr601fs) deletion Pathogenic 916867 6:110098175-110098175 6:109776972-109776972 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.2247dup (p.Ser750fs) duplication Pathogenic 916868 6:110112639-110112640 6:109791436-109791437 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.153G>A (p.Trp51Ter) SNV Pathogenic 917325 7:75932182-75932182 7:76302865-76302865 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.1039_1040del (p.Met347fs) deletion Pathogenic 916802 8:24812990-24812991 8:24955476-24955477 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.124_125insGCTGC (p.Ile42fs) insertion Pathogenic 916817 19:40909672-40909673 19:40403765-40403766 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.121_122insAAGCTGCGCGAG (p.Gly41_Ile42insGluAlaAlaArg) insertion Pathogenic 916818 19:40909675-40909676 19:40403768-40403769 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy RETREG1 NM_001034850.2(RETREG1):c.926C>G (p.Ser309Ter) SNV Pathogenic 328 rs137852739 5:16477845-16477845 5:16477736-16477736 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy RETREG1 NM_001034850.2(RETREG1):c.433C>T (p.Gln145Ter) SNV Pathogenic 330 rs137852737 5:16565897-16565897 5:16565788-16565788 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.281G>A (p.Arg94Gln) SNV Pathogenic 2268 rs28940291 1:12052717-12052717 1:11992660-11992660 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.2219G>C (p.Trp740Ser) SNV Pathogenic 2269 rs28940292 1:12071567-12071567 1:12011510-12011510 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.839G>A (p.Arg280His) SNV Pathogenic 2271 rs28940294 1:12061480-12061480 1:12001423-12001423 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.751C>G (p.Pro251Ala) SNV Pathogenic 2272 rs28940295 1:12059087-12059087 1:11999030-11999030 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.280C>T (p.Arg94Trp) SNV Pathogenic 2276 rs119103263 1:12052716-12052716 1:11992659-11992659 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1090C>T (p.Arg364Trp) SNV Pathogenic 2278 rs119103265 1:12062090-12062090 1:12002033-12002033 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.310C>T (p.Arg104Trp) SNV Pathogenic 2281 rs119103268 1:12052746-12052746 1:11992689-11992689 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) SNV Pathogenic 2483 rs80338934 5:148389835-148389835 5:149010272-149010272 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.1459C>T (p.Arg487Ter) SNV Pathogenic 2912 rs120074139 11:9990029-9990029 11:9968482-9968482 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) SNV Pathogenic 4193 rs104894077 8:75274121-75274121 8:74361886-74361886 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) SNV Pathogenic 4198 rs104894078 8:75272419-75272419 8:74360184-74360184 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) SNV Pathogenic 4200 rs104894080 8:75276240-75276240 8:74364005-74364005 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB8 NM_014365.2(HSPB8):c.423G>C (p.Lys141Asn) SNV Pathogenic 2617 rs104894345 12:119624885-119624885 12:119187080-119187080 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB8 NM_014365.2(HSPB8):c.421A>G (p.Lys141Glu) SNV Pathogenic 2618 rs104894351 12:119624883-119624883 12:119187078-119187078 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.293A>T (p.Gln98Leu) SNV Pathogenic 4658 rs121908160 1:10318660-10318660 1:10258602-10258602 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*2350T>A SNV Pathogenic 4792 rs104894707 19:40902114-40902114 19:40396207-40396207 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.398G>A (p.Cys133Tyr) SNV Pathogenic 4800 rs119482081 9:94842327-94842327 9:92080045-92080045 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.399T>G (p.Cys133Trp) SNV Pathogenic 4803 rs119482082 9:94842326-94842326 9:92080044-92080044 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) SNV Pathogenic 4787 rs104894714 19:40901402-40901402 19:40395495-40395495 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.946C>T (p.Arg316Cys) SNV Pathogenic 5001 rs267607145 12:110236625-110236625 12:109798820-109798820 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.805C>T (p.Arg269Cys) SNV Pathogenic 5002 rs267607146 12:110238471-110238471 12:109800666-109800666 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy CTDP1 NM_004715.4(CTDP1):c.863+389C>T SNV Pathogenic 5301 rs113994102 18:77470825-77470825 18:79710825-79710825 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LITAF NM_001136473.1(LITAF):c.334G>A (p.Gly112Ser) SNV Pathogenic 6057 rs104894519 16:11647432-11647432 16:11553576-11553576 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy ELP1 NM_003640.5(ELP1):c.2204+6T>C SNV Pathogenic 6085 rs111033171 9:111662096-111662096 9:108899816-108899816 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy YARS1 NM_003680.3(YARS1):c.586G>A (p.Glu196Lys) SNV Pathogenic 6189 rs121908834 1:33263369-33263369 1:32797768-32797768 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNM2 NM_001005360.2(DNM2):c.1105C>T (p.Arg369Trp) SNV Pathogenic 7280 rs121909090 19:10904508-10904508 19:10793832-10793832 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy RAB7A NM_004637.5(RAB7A):c.385C>T (p.Leu129Phe) SNV Pathogenic 7345 rs121909078 3:128525419-128525419 3:128806576-128806576 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy RAB7A NM_004637.5(RAB7A):c.484G>A (p.Val162Met) SNV Pathogenic 7346 rs121909079 3:128526470-128526470 3:128807627-128807627 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly) SNV Pathogenic 7484 rs121909112 7:75933172-75933172 7:76303855-76303855 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.880G>C (p.Gly294Arg) SNV Pathogenic 9204 rs137852643 7:30649345-30649345 7:30609729-30609729 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy ATP6 NC_012920.1:m.9185T>C SNV Pathogenic 9647 rs199476138 MT:9185-9185 MT:9185-9185 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.415G>A (p.Val139Met) SNV Pathogenic 10433 rs104894812 X:70443972-70443972 X:71224122-71224122 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.283G>A (p.Val95Met) SNV Pathogenic 10441 rs104894821 X:70443840-70443840 X:71223990-71223990 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.164C>T (p.Thr55Ile) SNV Pathogenic 10446 rs104894824 X:70443721-70443721 X:71223871-71223871 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TTR NM_000371.4(TTR):c.148G>A (p.Val50Met) SNV Pathogenic 13417 rs28933979 18:29172937-29172937 18:31592974-31592974 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TTR NM_000371.4(TTR):c.238A>G (p.Thr80Ala) SNV Pathogenic 13421 rs121918070 18:29175120-29175120 18:31595157-31595157 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TTR NM_000371.3(TTR):c.290C>A (p.Ser97Tyr) SNV Pathogenic 13422 rs121918071 18:29175172-29175172 18:31595209-31595209 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AARS1 NM_001605.3(AARS1):c.986G>A (p.Arg329His) SNV Pathogenic 8466 rs267606621 16:70302259-70302259 16:70268356-70268356 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TTR NM_000371.3(TTR):c.148G>C (p.Val50Leu) SNV Pathogenic 13440 rs28933979 18:29172937-29172937 18:31592974-31592974 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.286A>G (p.Lys96Glu) SNV Pathogenic 14166 rs121913583 1:161276660-161276660 1:161306870-161306870 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.270C>A (p.Asp90Glu) SNV Pathogenic 14167 rs121913584 1:161276676-161276676 1:161306886-161306886 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.293G>C (p.Arg98Pro) SNV Pathogenic 14174 rs121913589 1:161276653-161276653 1:161306863-161306863 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.242A>G (p.His81Arg) SNV Pathogenic 14179 rs121913594 1:161276704-161276704 1:161306914-161306914 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SLC12A6 NM_001365088.1(SLC12A6):c.1118+1G>A SNV Pathogenic/Likely pathogenic 370139 rs762730861 15:34546548-34546548 15:34254347-34254347 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.239A>G (p.Gln80Arg) SNV Pathogenic/Likely pathogenic 246096 rs879254097 X:70443796-70443796 X:71223946-71223946 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys) SNV Pathogenic/Likely pathogenic 245997 rs879254038 1:161276590-161276590 1:161306800-161306800 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.208C>G (p.Pro70Ala) SNV Pathogenic/Likely pathogenic 237122 rs878853697 X:70443765-70443765 X:71223915-71223915 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.138del (p.Ser47fs) deletion Pathogenic/Likely pathogenic 219616 rs864622180 17:15162451-15162451 17:15259134-15259134 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1488C>A (p.Cys496Ter) SNV Pathogenic/Likely pathogenic 234316 rs145226920 11:68701332-68701332 11:68933864-68933864 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.978_982AAGAA[1] (p.Lys328fs) short repeat Pathogenic/Likely pathogenic 217449 rs746581714 11:68685269-68685273 11:68917801-68917805 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.707C>T (p.Thr236Met) SNV Pathogenic/Likely pathogenic 217165 rs773159585 1:12058934-12058934 1:11998877-11998877 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) SNV Pathogenic/Likely pathogenic 217230 rs863225022 7:75933161-75933161 7:76303844-76303844 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.523C>T (p.Gln175Ter) SNV Pathogenic/Likely pathogenic 217231 rs863225023 7:75933395-75933395 7:76304078-76304078 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.547C>T (p.Arg183Cys) SNV Pathogenic/Likely pathogenic 216039 rs863224471 X:70444104-70444104 X:71224254-71224254 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.83T>A (p.Ile28Asn) SNV Pathogenic/Likely pathogenic 215983 rs768834663 X:70443640-70443640 X:71223790-71223790 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.449+1G>T SNV Pathogenic/Likely pathogenic 204303 rs797044802 11:68675806-68675806 11:68908338-68908338 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.314C>T (p.Pro105Leu) SNV Pathogenic/Likely pathogenic 188325 rs786204215 1:161276632-161276632 1:161306842-161306842 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.182A>G (p.Asp61Gly) SNV Pathogenic/Likely pathogenic 188168 rs786204119 1:161277100-161277100 1:161307310-161307310 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.2909_2910AG[1] (p.Arg971fs) short repeat Pathogenic/Likely pathogenic 162195 rs724159994 11:68707126-68707127 11:68939658-68939659 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu) SNV Pathogenic/Likely pathogenic 157529 rs587781250 7:75933134-75933134 7:76303817-76303817 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.775C>T (p.Arg259Cys) SNV Pathogenic/Likely pathogenic 155730 rs587777875 1:12059111-12059111 1:11999054-11999054 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1609-3C>G SNV Pathogenic/Likely pathogenic 66856 rs267607581 1:156107442-156107442 1:156137651-156137651 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) SNV Pathogenic/Likely pathogenic 41022 rs281865128 1:161276216-161276216 1:161306426-161306426 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.947G>A (p.Arg316His) SNV Pathogenic/Likely pathogenic 30473 rs387906905 12:110236624-110236624 12:109798819-109798819 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNMT1 NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) SNV Pathogenic/Likely pathogenic 29682 rs199473690 19:10265693-10265693 19:10155017-10155017 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys) SNV Pathogenic/Likely pathogenic 21690 rs80338926 5:148407323-148407323 5:149027760-149027760 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr) SNV Pathogenic/Likely pathogenic 14183 rs121913596 1:161277179-161277179 1:161307389-161307389 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.293G>A (p.Arg98His) SNV Pathogenic/Likely pathogenic 14176 rs121913589 1:161276653-161276653 1:161306863-161306863 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy BAG3 NM_004281.3(BAG3):c.626C>T (p.Pro209Leu) SNV Pathogenic/Likely pathogenic 5981 rs121918312 10:121431885-121431885 10:119672373-119672373 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TTR NM_000371.4(TTR):c.424G>A (p.Val142Ile) SNV Pathogenic/Likely pathogenic 13426 rs76992529 18:29178618-29178618 18:31598655-31598655 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.281dup (p.Arg95fs) duplication Pathogenic/Likely pathogenic 8437 rs80338763 17:15142825-15142826 17:15239508-15239509 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy ELP1 NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) SNV Pathogenic/Likely pathogenic 6086 rs137853022 9:111662583-111662583 9:108900303-108900303 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) SNV Pathogenic/Likely pathogenic 2482 rs80338933 5:148406435-148406435 5:149026872-149026872 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.1858G>A (p.Val620Ile) SNV Pathogenic/Likely pathogenic 4993 rs121912633 12:110230201-110230201 12:109792396-109792396 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.943C>T (p.Arg315Trp) SNV Pathogenic/Likely pathogenic 4999 rs267607143 12:110236628-110236628 12:109798823-109798823 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.806G>A (p.Arg269His) SNV Pathogenic/Likely pathogenic 5000 rs267607144 12:110238470-110238470 12:109800665-109800665 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) SNV Pathogenic/Likely pathogenic 4801 rs119482083 9:94830377-94830377 9:92068095-92068095 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) SNV Pathogenic/Likely pathogenic 4202 rs121908114 8:75275286-75275286 8:74363051-74363051 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) SNV Pathogenic/Likely pathogenic 2280 rs119103267 1:12069698-12069698 1:12009641-12009641 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TTR NM_000371.4(TTR):c.252T>G (p.Phe84Leu) SNV Pathogenic/Likely pathogenic 845368 18:29175134-29175134 18:31595171-31595171 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.2019dup (p.Glu674fs) duplication Pathogenic/Likely pathogenic 651567 9:130263394-130263395 9:127501115-127501116 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.420G>A (p.Trp140Ter) SNV Pathogenic/Likely pathogenic 648604 17:15134297-15134297 17:15230980-15230980 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.165_177dup (p.Gln60fs) duplication Pathogenic/Likely pathogenic 649369 19:40909619-40909620 19:40403712-40403713 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.303G>A (p.Trp101Ter) SNV Pathogenic/Likely pathogenic 586153 rs1558154149 1:161276643-161276643 1:161306853-161306853 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PLD3 NM_181882.3(PRX):c.3198del (p.Phe1066fs) deletion Pathogenic/Likely pathogenic 637402 19:40901061-40901061 19:40395154-40395154 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.3198del (p.Phe1066fs) deletion Pathogenic/Likely pathogenic 637402 19:40901061-40901061 19:40395154-40395154 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.486del (p.Ile162fs) deletion Pathogenic/Likely pathogenic 625199 1:161276217-161276217 1:161306427-161306427 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter) SNV Pathogenic/Likely pathogenic 569560 rs761035569 8:75262808-75262808 8:74350573-74350573 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy INF2 NM_022489.4(INF2):c.658G>A (p.Glu220Lys) SNV Pathogenic/Likely pathogenic 523533 rs530391015 14:105169782-105169782 14:104703445-104703445 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) SNV Pathogenic/Likely pathogenic 447730 rs572010627 1:161276528-161276528 1:161306738-161306738 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) SNV Pathogenic/Likely pathogenic 406135 rs538412810 8:75272519-75272519 8:74360284-74360284 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) SNV Pathogenic/Likely pathogenic 406228 rs1060501002 X:70443622-70443622 X:71223772-71223772 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.786del (p.Phe263fs) deletion Pathogenic/Likely pathogenic 406136 rs1060500978 8:75276308-75276308 8:74364073-74364073 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.276G>A (p.Val92=) SNV Likely pathogenic 14200 rs1558154193 1:161276670-161276670 1:161306880-161306880 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr) SNV Likely pathogenic 21085 rs116840822 X:70444093-70444093 X:71224243-71224243 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.382G>A (p.Asp128Asn) SNV Likely pathogenic 242747 rs267607243 1:161276564-161276564 1:161306774-161306774 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SLC12A6 NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter) SNV Likely pathogenic 30440 rs606231229 15:34526135-34526135 15:34233934-34233934 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1085C>T (p.Thr362Met) SNV Likely pathogenic 30738 rs387906991 1:12062085-12062085 1:12002028-12002028 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNM2 NM_001005361.2(DNM2):c.1241A>G (p.Lys414Arg) SNV Likely pathogenic 157522 rs199927590 19:10908100-10908100 19:10797424-10797424 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.1700G>A (p.Arg567His) SNV Likely pathogenic 157534 rs587781253 14:102452262-102452262 14:101985925-101985925 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNAJB2 NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys) SNV Likely pathogenic 183042 rs730882140 2:220144569-220144569 2:219279847-219279847 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LAMA2 deletion Likely pathogenic 190034 6:129040519-129222690 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.419C>G (p.Ser140Cys) SNV Likely pathogenic 215993 rs863224449 1:161276527-161276527 1:161306737-161306737 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.372G>C (p.Lys124Asn) SNV Likely pathogenic 234611 rs876661119 X:70443929-70443929 X:71224079-71224079 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.376C>T (p.His126Tyr) SNV Likely pathogenic 245904 rs879253995 X:70443933-70443933 X:71224083-71224083 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.132G>C (p.Trp44Cys) SNV Likely pathogenic 245761 rs879253935 X:70443689-70443689 X:71223839-71223839 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.83T>C (p.Ile28Thr) SNV Likely pathogenic 246094 rs768834663 X:70443640-70443640 X:71223790-71223790 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MORC2 NM_001303256.3(MORC2):c.707A>G (p.Glu236Gly) SNV Likely pathogenic 254251 rs886037934 22:31337537-31337537 22:30941550-30941550 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1252C>T (p.Arg418Ter) SNV Likely pathogenic 372790 rs1057517987 1:12064140-12064140 1:12004083-12004083 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.958C>T (p.Arg320Ter) SNV Likely pathogenic 374169 rs773690764 11:68685249-68685249 11:68917781-68917781 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.325G>A (p.Asp109Asn) SNV Likely pathogenic 411668 rs1060503420 1:161276621-161276621 1:161306831-161306831 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.830A>G (p.His277Arg) SNV Likely pathogenic 420143 rs1064794316 1:12061471-12061471 1:12001414-12001414 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1078C>G (p.Gln360Glu) SNV Likely pathogenic 422500 rs1064795818 1:12062078-12062078 1:12002021-12002021 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys) SNV Likely pathogenic 430459 rs121913603 1:161276512-161276512 1:161306722-161306722 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.106A>G (p.Arg36Gly) SNV Likely pathogenic 420151 rs864622732 1:161277176-161277176 1:161307386-161307386 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.50C>G (p.Ser17Cys) SNV Likely pathogenic 444867 rs1555937009 X:70443607-70443607 X:71223757-71223757 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.307A>G (p.Lys103Glu) SNV Likely pathogenic 429329 rs1131691322 X:70443864-70443864 X:71224014-71224014 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.335T>C (p.Ile112Thr) SNV Likely pathogenic 462795 rs1553259662 1:161276611-161276611 1:161306821-161306821 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.423C>G (p.Phe141Leu) SNV Likely pathogenic 449355 rs1555937180 X:70443980-70443980 X:71224130-71224130 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.400G>A (p.Asp134Asn) SNV Likely pathogenic 449536 rs1553259647 1:161276546-161276546 1:161306756-161306756 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.332C>G (p.Ser111Cys) SNV Likely pathogenic 449538 rs1553259663 1:161276614-161276614 1:161306824-161306824 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter) SNV Likely pathogenic 447336 rs745790694 6:110117975-110117975 6:109796772-109796772 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.1239_1241inv (p.Tyr413_Ile414delinsTer) inversion Likely pathogenic 523914 rs1554303811 6:110081554-110081556 6:109760351-109760353 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.34G>A (p.Gly12Ser) SNV Likely pathogenic 477595 rs1555936999 X:70443591-70443591 X:71223741-71223741 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.324dup (p.Glu109Ter) duplication Likely pathogenic 503687 rs1555937143 X:70443879-70443880 X:71224029-71224030 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.794C>T (p.Ser265Phe) SNV Likely pathogenic 476762 rs1554337974 7:30649259-30649259 7:30609643-30609643 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy BSCL2 NM_032667.6(BSCL2):c.269C>G (p.Ser90Trp) SNV Likely pathogenic 476810 rs137852973 11:62469965-62469965 11:62702493-62702493 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.752C>G (p.Pro251Arg) SNV Likely pathogenic 577604 rs1557525153 1:12059088-12059088 1:11999031-11999031 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.2171T>C (p.Leu724Pro) SNV Likely pathogenic 573744 rs1557537346 1:12069750-12069750 1:12009693-12009693 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.529G>A (p.Val177Met) SNV Likely pathogenic 570878 rs1569215351 X:70444086-70444086 X:71224236-71224236 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.392T>C (p.Leu131Pro) SNV Likely pathogenic 576347 rs1555937166 X:70443949-70443949 X:71224099-71224099 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NTRK1 NM_002529.3(NTRK1):c.253C>A (p.Arg85Ser) SNV Likely pathogenic 584593 rs543320028 1:156834186-156834186 1:156864394-156864394 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1144G>C (p.Ala382Pro) SNV Likely pathogenic 543189 rs1553144066 1:12062144-12062144 1:12002087-12002087 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.179G>A (p.Cys60Tyr) SNV Likely pathogenic 543917 rs1555937082 X:70443736-70443736 X:71223886-71223886 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter) SNV Likely pathogenic 637781 1:161276511-161276511 1:161306721-161306721 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg) SNV Likely pathogenic 632006 rs770272088 7:75932279-75932279 7:76302962-76302962 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.221A>G (p.Gln74Arg) SNV Likely pathogenic 637311 1:12052657-12052657 1:11992600-11992600 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.73C>T (p.Leu25Phe) SNV Likely pathogenic 637201 X:70443630-70443630 X:71223780-71223780 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.392C>G (p.Ser131Cys) SNV Likely pathogenic 637835 17:15134325-15134325 17:15231008-15231008 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.598G>A (p.Asp200Asn) SNV Likely pathogenic 637545 7:30642678-30642678 7:30603062-30603062 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NTRK1 NM_002529.3(NTRK1):c.354_359+3del deletion Likely pathogenic 637368 1:156834585-156834593 1:156864793-156864801 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.772del (p.Ser258fs) deletion Likely pathogenic 637164 X:70444329-70444329 X:71224479-71224479 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.610C>G (p.Leu204Val) SNV Likely pathogenic 637576 X:70444167-70444167 X:71224317-71224317 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.538T>C (p.Phe180Leu) SNV Likely pathogenic 637881 X:70444095-70444095 X:71224245-71224245 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.479A>G (p.Tyr160Cys) SNV Likely pathogenic 637566 X:70444036-70444036 X:71224186-71224186 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.3873C>G (p.Tyr1291Ter) SNV Likely pathogenic 694913 19:40900386-40900386 19:40394479-40394479 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.541G>T (p.Glu181Ter) SNV Likely pathogenic 916803 8:24813489-24813489 8:24955975-24955975 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.999_1004delinsTGTCG (p.Gln334fs) indel Likely pathogenic 916804 8:24813026-24813031 8:24955512-24955517 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.993_994insT (p.Gln332fs) insertion Likely pathogenic 916805 8:24813036-24813037 8:24955522-24955523 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.822_850dup (p.Lys284delinsArgProTer) duplication Likely pathogenic 916949 5:148418008-148418009 5:149038445-149038446 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.2551_2554dup (p.Val852fs) duplication Likely pathogenic 916842 5:148406740-148406741 5:149027177-149027178 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.549G>A (p.Trp183Ter) SNV Likely pathogenic 917145 1:161276154-161276154 1:161306364-161306364 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.122_124delinsAAGCTGCGCGAGGAAGCTGC (p.Gly41fs) indel Likely pathogenic 916820 19:40909673-40909675 19:40403766-40403768 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.122del (p.Gly41fs) deletion Likely pathogenic 916821 19:40909675-40909675 19:40403768-40403768 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.2T>C (p.Met1Thr) SNV Likely pathogenic 916822 19:40913838-40913838 19:40407931-40407931 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.72G>C (p.Trp24Cys) SNV Likely pathogenic 917092 X:70443629-70443629 X:71223779-71223779 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.109G>C (p.Val37Leu) SNV Likely pathogenic 917093 X:70443666-70443666 X:71223816-71223816 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.255C>A (p.Cys85Ter) SNV Likely pathogenic 917225 17:15142852-15142852 17:15239535-15239535 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.170C>G (p.Ser57Ter) SNV Likely pathogenic 917224 17:15162419-15162419 17:15259102-15259102 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.4003C>T (p.Arg1335Ter) SNV Likely pathogenic 916819 19:40900256-40900256 19:40394349-40394349 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.272_274delinsTTT (p.Thr91_Gln92delinsIleTer) indel Likely pathogenic 917000 8:75263663-75263665 8:74351428-74351430 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.1016dup (p.Gln340fs) duplication Likely pathogenic 917119 9:130242229-130242230 9:127479950-127479951 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.2008del (p.Val670fs) deletion Likely pathogenic 917118 9:130263383-130263383 9:127501104-127501104 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.1846C>T (p.Arg616Ter) SNV Likely pathogenic 916858 12:110230213-110230213 12:109792408-109792408 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.199G>A (p.Ala67Thr) SNV Likely pathogenic 8443 rs104894623 17:15142908-15142908 17:15239591-15239591 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1738G>A (p.Val580Ile) SNV Likely pathogenic 9114 rs137852667 11:68702872-68702872 11:68935404-68935404 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.188C>T (p.Ser63Phe) SNV Likely pathogenic 14177 rs121913585 1:161277094-161277094 1:161307304-161307304 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.448+2T>G SNV Likely pathogenic 917146 1:161276496-161276496 1:161306706-161306706 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.750+2T>G SNV Likely pathogenic 917117 9:130236212-130236212 9:127473933-127473933 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.904-2A>G SNV Likely pathogenic 917120 9:130242116-130242116 9:127479837-127479837 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.1061-1G>C SNV Likely pathogenic 917009 11:68696650-68696650 11:68929182-68929182 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.1395+1G>A SNV Likely pathogenic 916834 11:10011043-10011043 11:9989496-9989496 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.4(MED25):c.135-1G>A SNV Likely pathogenic 917360 19:50321827-50321827 19:49818570-49818570 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.109G>T (p.Val37Leu) SNV Conflicting interpretations of pathogenicity 374173 rs1057518946 X:70443666-70443666 X:71223816-71223816 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.751C>T (p.Pro251Ser) SNV Conflicting interpretations of pathogenicity 374659 rs144963732 5:148420221-148420221 5:149040658-149040658 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*802C>T SNV Conflicting interpretations of pathogenicity 329283 rs144157275 19:40903662-40903662 19:40397755-40397755 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*1705A>G SNV Conflicting interpretations of pathogenicity 329276 rs777104457 19:40902759-40902759 19:40396852-40396852 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LITAF NM_001136473.1(LITAF):c.44C>T (p.Ser15Leu) SNV Conflicting interpretations of pathogenicity 317789 rs138041990 16:11650543-11650543 16:11556687-11556687 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AARS1 NM_001605.2(AARS1):c.2732A>G (p.Asn911Ser) SNV Conflicting interpretations of pathogenicity 320324 rs746822330 16:70286799-70286799 16:70252896-70252896 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.-20A>C SNV Conflicting interpretations of pathogenicity 329291 rs780315081 19:40913859-40913859 19:40407952-40407952 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.1377C>T (p.Thr459=) SNV Conflicting interpretations of pathogenicity 329883 rs374928221 19:50335567-50335567 19:49832310-49832310 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1422C>A (p.Asp474Glu) SNV Conflicting interpretations of pathogenicity 305846 rs61731907 11:68701266-68701266 11:68933798-68933798 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2532G>T (p.Ala844=) SNV Conflicting interpretations of pathogenicity 305856 rs2228207 11:68704480-68704480 11:68937012-68937012 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2612-15G>A SNV Conflicting interpretations of pathogenicity 305857 rs372230504 11:68705635-68705635 11:68938167-68938167 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.*6C>T SNV Conflicting interpretations of pathogenicity 305866 rs117995705 11:68707205-68707205 11:68939737-68939737 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=) SNV Conflicting interpretations of pathogenicity 312638 rs754446530 14:102482258-102482258 14:102015921-102015921 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=) SNV Conflicting interpretations of pathogenicity 312664 rs140033479 14:102514993-102514993 14:102048656-102048656 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.1825-15C>G SNV Conflicting interpretations of pathogenicity 307126 rs200602134 12:110230249-110230249 12:109792444-109792444 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.1509A>G (p.Glu503=) SNV Conflicting interpretations of pathogenicity 306607 rs143773975 11:9989979-9989979 11:9968432-9968432 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.354C>T (p.Leu118=) SNV Conflicting interpretations of pathogenicity 329879 rs145574885 19:50331754-50331754 19:49828497-49828497 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.1704T>C (p.Leu568=) SNV Conflicting interpretations of pathogenicity 312620 rs192959810 14:102452266-102452266 14:101985929-101985929 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AARS1 NM_001605.2(AARS1):c.2580G>A (p.Leu860=) SNV Conflicting interpretations of pathogenicity 320328 rs145581652 16:70287644-70287644 16:70253741-70253741 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.345-10T>G SNV Conflicting interpretations of pathogenicity 312617 rs202110844 14:102445646-102445646 14:101979309-101979309 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=) SNV Conflicting interpretations of pathogenicity 312642 rs149753029 14:102493523-102493523 14:102027186-102027186 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.12514-9C>A SNV Conflicting interpretations of pathogenicity 312656 rs74874468 14:102510203-102510203 14:102043866-102043866 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=) SNV Conflicting interpretations of pathogenicity 312660 rs375767483 14:102514296-102514296 14:102047959-102047959 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.2157G>A (p.Lys719=) SNV Conflicting interpretations of pathogenicity 378135 rs148441213 1:12069736-12069736 1:12009679-12009679 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.446+9G>A SNV Conflicting interpretations of pathogenicity 381005 rs190287033 6:110048477-110048477 6:109727274-109727274 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1767C>T (p.Ser589=) SNV Conflicting interpretations of pathogenicity 390930 rs139898175 5:148407528-148407528 5:149027965-149027965 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.33G>C (p.Ser11=) SNV Conflicting interpretations of pathogenicity 389842 rs527523781 6:110012671-110012671 6:109691468-109691468 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.408A>G (p.Gln136=) SNV Conflicting interpretations of pathogenicity 385077 rs200279483 7:30639646-30639646 7:30600030-30600030 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.3(NDRG1):c.789G>A (p.Ser263=) SNV Conflicting interpretations of pathogenicity 379907 rs61755062 8:134260136-134260136 8:133247893-133247893 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.1402G>T (p.Ala468Ser) SNV Conflicting interpretations of pathogenicity 388906 rs748723735 9:94794767-94794767 9:92032485-92032485 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.-15G>A SNV Conflicting interpretations of pathogenicity 381810 rs756260929 7:75932015-75932015 7:76302698-76302698 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.693A>T (p.Pro231=) SNV Conflicting interpretations of pathogenicity 379724 rs181157785 8:75275287-75275287 8:74363052-74363052 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.1601C>T (p.Thr534Met) SNV Conflicting interpretations of pathogenicity 380607 rs141542114 9:130257600-130257600 9:127495321-127495321 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2619G>A (p.Pro873=) SNV Conflicting interpretations of pathogenicity 389709 rs373001247 11:68705657-68705657 11:68938189-68938189 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.5(MTMR2):c.1770+3A>G SNV Conflicting interpretations of pathogenicity 384786 rs756909627 11:95569309-95569309 11:95836145-95836145 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln) SNV Conflicting interpretations of pathogenicity 380553 rs113808165 12:57908817-57908817 12:57515034-57515034 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.2391A>C (p.Thr797=) SNV Conflicting interpretations of pathogenicity 389593 rs140573721 12:57909119-57909119 12:57515336-57515336 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.5037C>T (p.Arg1679=) SNV Conflicting interpretations of pathogenicity 383688 rs200784979 11:9809181-9809181 11:9787634-9787634 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1298C>T (p.Ser433Leu) SNV Conflicting interpretations of pathogenicity 281116 rs200967041 5:148407997-148407997 5:149028434-149028434 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1017C>T (p.Ala339=) SNV Conflicting interpretations of pathogenicity 282383 rs201779392 5:148411235-148411235 5:149031672-149031672 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.1491+10C>T SNV Conflicting interpretations of pathogenicity 282949 rs201815805 12:110232124-110232124 12:109794319-109794319 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1060+8G>T SNV Conflicting interpretations of pathogenicity 284364 rs201147313 11:68685359-68685359 11:68917891-68917891 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn) SNV Conflicting interpretations of pathogenicity 286258 rs373671419 1:156107493-156107493 1:156137702-156137702 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=) SNV Conflicting interpretations of pathogenicity 287210 rs35079638 14:102516487-102516487 14:102050150-102050150 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.396C>T (p.Arg132=) SNV Conflicting interpretations of pathogenicity 287305 rs142353864 19:50331796-50331796 19:49828539-49828539 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1314G>A (p.Gly438=) SNV Conflicting interpretations of pathogenicity 290660 rs774817302 1:156106161-156106161 1:156136370-156136370 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.2847C>T (p.Ile949=) SNV Conflicting interpretations of pathogenicity 291564 rs150904940 1:10394638-10394638 1:10334580-10334580 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.936+12C>T SNV Conflicting interpretations of pathogenicity 292837 rs199881992 1:156105115-156105115 1:156135324-156135324 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.474+4A>G SNV Conflicting interpretations of pathogenicity 292372 rs141974160 1:12056379-12056379 1:11996322-11996322 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.1817C>T (p.Thr606Ile) SNV Conflicting interpretations of pathogenicity 291552 rs142881321 1:10357048-10357048 1:10296990-10296990 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1269G>A (p.Thr423=) SNV Conflicting interpretations of pathogenicity 292374 rs145994616 1:12064157-12064157 1:12004100-12004100 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) SNV Conflicting interpretations of pathogenicity 293314 rs530923760 1:161277205-161277205 1:161307415-161307415 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3795G>C (p.Leu1265=) SNV Conflicting interpretations of pathogenicity 351896 rs144873879 5:148384346-148384346 5:149004783-149004783 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1814G>A (p.Arg605His) SNV Conflicting interpretations of pathogenicity 351912 rs186864272 5:148407481-148407481 5:149027918-149027918 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.549C>T (p.Ala183=) SNV Conflicting interpretations of pathogenicity 351918 rs147013935 5:148421161-148421161 5:149041598-149041598 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.280-5C>T SNV Conflicting interpretations of pathogenicity 351922 rs201937366 5:148424206-148424206 5:149044643-149044643 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.2547-5T>G SNV Conflicting interpretations of pathogenicity 355047 rs200267243 6:110146286-110146286 6:109825083-109825083 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.*882G>A SNV Conflicting interpretations of pathogenicity 351875 rs775429372 5:148383392-148383392 5:149003829-149003829 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.1272-10C>G SNV Conflicting interpretations of pathogenicity 355039 rs201293291 6:110083284-110083284 6:109762081-109762081 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.1863C>A (p.Thr621=) SNV Conflicting interpretations of pathogenicity 355042 rs201744761 6:110098237-110098237 6:109777034-109777034 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser) SNV Conflicting interpretations of pathogenicity 360011 rs192443850 7:30655580-30655580 7:30615964-30615964 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1809+14T>C SNV Conflicting interpretations of pathogenicity 360016 rs367739730 7:30668299-30668299 7:30628683-30628683 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.685G>A (p.Glu229Lys) SNV Conflicting interpretations of pathogenicity 365017 rs563259179 9:130236145-130236145 9:127473866-127473866 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.-4C>T SNV Conflicting interpretations of pathogenicity 360736 rs372833436 7:75932026-75932026 7:76302709-76302709 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) SNV Conflicting interpretations of pathogenicity 360738 rs558882005 7:75933137-75933137 7:76303820-76303820 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.777G>A (p.Pro259=) SNV Conflicting interpretations of pathogenicity 301870 rs142261202 11:10022545-10022545 11:10000998-10000998 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.764C>T (p.Ala255Val) SNV Conflicting interpretations of pathogenicity 360005 rs765478968 7:30649229-30649229 7:30609613-30609613 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.5(MTMR2):c.1862G>A (p.Arg621Gln) SNV Conflicting interpretations of pathogenicity 306533 rs371925152 11:95568524-95568524 11:95835360-95835360 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.2598G>A (p.Pro866=) SNV Conflicting interpretations of pathogenicity 306596 rs376372877 11:9874235-9874235 11:9852688-9852688 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.946C>T (p.Leu316=) SNV Conflicting interpretations of pathogenicity 301868 rs374841593 11:10019842-10019842 11:9998295-9998295 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.852A>G (p.Arg284=) SNV Conflicting interpretations of pathogenicity 308290 rs773609461 12:32755110-32755110 12:32602176-32602176 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.432G>A (p.Ser144=) SNV Conflicting interpretations of pathogenicity 312619 rs533327200 14:102445743-102445743 14:101979406-101979406 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=) SNV Conflicting interpretations of pathogenicity 312623 rs149902566 14:102452773-102452773 14:101986436-101986436 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=) SNV Conflicting interpretations of pathogenicity 312625 rs114021657 14:102455042-102455042 14:101988705-101988705 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=) SNV Conflicting interpretations of pathogenicity 312641 rs77113510 14:102484914-102484914 14:102018577-102018577 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.13219-9C>T SNV Conflicting interpretations of pathogenicity 312663 rs17541650 14:102514844-102514844 14:102048507-102048507 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1015C>T (p.Leu339Phe) SNV Conflicting interpretations of pathogenicity 305841 rs149045005 11:68685306-68685306 11:68917838-68917838 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1125C>T (p.Asp375=) SNV Conflicting interpretations of pathogenicity 305842 rs140296831 11:68696715-68696715 11:68929247-68929247 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1290C>T (p.Tyr430=) SNV Conflicting interpretations of pathogenicity 305844 rs140654955 11:68700821-68700821 11:68933353-68933353 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.205A>C (p.Met69Leu) SNV Conflicting interpretations of pathogenicity 307143 rs200199102 12:110252397-110252397 12:109814592-109814592 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.705T>C (p.Ser235=) SNV Conflicting interpretations of pathogenicity 301871 rs143209062 11:10024151-10024151 11:10002604-10002604 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2355G>A (p.Arg785=) SNV Conflicting interpretations of pathogenicity 305853 rs147954772 11:68704303-68704303 11:68936835-68936835 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.103A>G (p.Ile35Val) SNV Conflicting interpretations of pathogenicity 305830 rs199586231 11:68673553-68673553 11:68906085-68906085 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=) SNV Conflicting interpretations of pathogenicity 312631 rs139919955 14:102471435-102471435 14:102005098-102005098 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.5(MTMR2):c.1386A>G (p.Leu462=) SNV Conflicting interpretations of pathogenicity 386798 rs139369561 11:95578117-95578117 11:95844953-95844953 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.320-4C>T SNV Conflicting interpretations of pathogenicity 383080 rs377467465 17:15134401-15134401 17:15231084-15231084 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*650G>A SNV Conflicting interpretations of pathogenicity 386230 rs142436391 19:40903814-40903814 19:40397907-40397907 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*4007G>C SNV Conflicting interpretations of pathogenicity 382637 rs146061247 19:40900457-40900457 19:40394550-40394550 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PDK3 NM_001142386.3(PDK3):c.376A>G (p.Met126Val) SNV Conflicting interpretations of pathogenicity 382040 rs138321172 X:24521499-24521499 X:24503382-24503382 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.1584-8T>A SNV Conflicting interpretations of pathogenicity 260446 rs199522051 6:110087924-110087924 6:109766721-109766721 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.2097-10C>G SNV Conflicting interpretations of pathogenicity 260448 rs142482745 6:110110787-110110787 6:109789584-109789584 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.151C>G (p.Gln51Glu) SNV Conflicting interpretations of pathogenicity 258557 rs117061430 11:68673601-68673601 11:68906133-68906133 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.1940A>G (p.Tyr647Cys) SNV Conflicting interpretations of pathogenicity 254671 rs150301327 6:110106223-110106223 6:109785020-109785020 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2837G>A (p.Arg946Gln) SNV Conflicting interpretations of pathogenicity 246570 rs149824485 11:68707054-68707054 11:68939586-68939586 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.3290C>A (p.Thr1097Asn) SNV Conflicting interpretations of pathogenicity 246062 rs141894081 11:9861210-9861210 11:9839663-9839663 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.479G>A (p.Gly160Asp) SNV Conflicting interpretations of pathogenicity 245601 rs201826412 12:32735280-32735280 12:32582346-32582346 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AARS1 NM_001605.2(AARS1):c.1108A>G (p.Met370Val) SNV Conflicting interpretations of pathogenicity 246273 rs199976742 16:70301676-70301676 16:70267773-70267773 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*4152C>T SNV Conflicting interpretations of pathogenicity 246123 rs142762689 19:40900312-40900312 19:40394405-40394405 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*3578G>A SNV Conflicting interpretations of pathogenicity 245663 rs148939995 19:40900886-40900886 19:40394979-40394979 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*3391G>T SNV Conflicting interpretations of pathogenicity 245910 rs139188673 19:40901073-40901073 19:40395166-40395166 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*1856G>A SNV Conflicting interpretations of pathogenicity 245732 rs61733448 19:40902608-40902608 19:40396701-40396701 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.3843A>G (p.Thr1281=) SNV Conflicting interpretations of pathogenicity 241611 rs147597665 11:9838522-9838522 11:9816975-9816975 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.1656del (p.Tyr553fs) deletion Conflicting interpretations of pathogenicity 241385 rs541606391 12:110231334-110231334 12:109793529-109793529 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.1378C>T (p.Arg460Trp) SNV Conflicting interpretations of pathogenicity 241381 rs34227547 12:110232247-110232247 12:109794442-109794442 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr) SNV Conflicting interpretations of pathogenicity 238994 rs141925609 14:102514235-102514235 14:102047898-102047898 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=) SNV Conflicting interpretations of pathogenicity 238995 rs138571942 14:102516430-102516430 14:102050093-102050093 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*4264_*4266GGA[5] short repeat Conflicting interpretations of pathogenicity 242184 rs139624657 19:40900180-40900185 19:40394273-40394278 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*1779T>C SNV Conflicting interpretations of pathogenicity 242179 rs149715830 19:40902685-40902685 19:40396778-40396778 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.548-10T>G SNV Conflicting interpretations of pathogenicity 235360 rs139207271 11:68678898-68678898 11:68911430-68911430 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1808G>A (p.Arg603His) SNV Conflicting interpretations of pathogenicity 235774 rs151079750 11:68703756-68703756 11:68936288-68936288 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.200G>A (p.Arg67His) SNV Conflicting interpretations of pathogenicity 237875 rs201720099 1:161277082-161277082 1:161307292-161307292 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg) SNV Conflicting interpretations of pathogenicity 241839 rs56380300 9:130242179-130242179 9:127479900-127479900 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) SNV Conflicting interpretations of pathogenicity 246572 rs202176679 1:161275906-161275906 1:161306116-161306116 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro) SNV Conflicting interpretations of pathogenicity 245625 rs367662394 7:75932109-75932109 7:76302792-76302792 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.310+6del deletion Conflicting interpretations of pathogenicity 245606 rs780828430 8:75263707-75263707 8:74351472-74351472 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2360C>T (p.Pro787Leu) SNV Conflicting interpretations of pathogenicity 245872 rs141594765 11:68704308-68704308 11:68936840-68936840 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.586G>A (p.Gly196Ser) SNV Conflicting interpretations of pathogenicity 245644 rs148059394 9:130230076-130230076 9:127467797-127467797 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3512G>T (p.Arg1171Leu) SNV Conflicting interpretations of pathogenicity 245766 rs200728983 5:148386607-148386607 5:149007044-149007044 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.653T>C (p.Leu218Pro) SNV Conflicting interpretations of pathogenicity 245744 rs879253925 1:12058880-12058880 1:11998823-11998823 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3315G>A (p.Val1105=) SNV Conflicting interpretations of pathogenicity 215924 rs375970910 5:148389845-148389845 5:149010282-149010282 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr) SNV Conflicting interpretations of pathogenicity 216545 rs367857772 7:75933482-75933482 7:76304165-76304165 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1827C>T (p.Ser609=) SNV Conflicting interpretations of pathogenicity 214636 rs138724074 1:12066705-12066705 1:12006648-12006648 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.2146G>A (p.Ala716Thr) SNV Conflicting interpretations of pathogenicity 214649 rs144860227 1:12069725-12069725 1:12009668-12009668 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AIFM1 NM_004208.4(AIFM1):c.1047C>T (p.Ser349=) SNV Conflicting interpretations of pathogenicity 214080 rs781350745 X:129271081-129271081 X:130137106-130137106 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.2466C>T (p.Asp822=) SNV Conflicting interpretations of pathogenicity 215881 rs145846362 1:10384882-10384882 1:10324824-10324824 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.4458C>T (p.Pro1486=) SNV Conflicting interpretations of pathogenicity 215516 rs147066476 1:10425550-10425550 1:10365492-10365492 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.5017_5019GAA[1] (p.Glu1674del) short repeat Conflicting interpretations of pathogenicity 216777 rs572571832 11:9809196-9809198 11:9787649-9787651 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe) indel Conflicting interpretations of pathogenicity 216737 rs863224780 5:148407892-148407893 5:149028329-149028330 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LITAF NM_001136473.1(LITAF):c.146C>T (p.Thr49Met) SNV Conflicting interpretations of pathogenicity 215840 rs141862602 16:11650441-11650441 16:11556585-11556585 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.152A>G (p.His51Arg) SNV Conflicting interpretations of pathogenicity 215728 rs368908933 17:15162437-15162437 17:15259120-15259120 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*3701C>T SNV Conflicting interpretations of pathogenicity 216835 rs147826200 19:40900763-40900763 19:40394856-40394856 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*2459G>A SNV Conflicting interpretations of pathogenicity 216834 rs147587689 19:40902005-40902005 19:40396098-40396098 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2784+1G>T SNV Conflicting interpretations of pathogenicity 204304 rs797044803 11:68705823-68705823 11:68938355-68938355 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AARS1 NM_001605.2(AARS1):c.2333A>C (p.Glu778Ala) SNV Conflicting interpretations of pathogenicity 204300 rs797044801 16:70288591-70288591 16:70254688-70254688 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=) SNV Conflicting interpretations of pathogenicity 210870 rs186932188 14:102467991-102467991 14:102001654-102001654 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) SNV Conflicting interpretations of pathogenicity 210871 rs149395439 14:102471438-102471438 14:102005101-102005101 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) SNV Conflicting interpretations of pathogenicity 210873 rs140841480 14:102476187-102476187 14:102009850-102009850 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) SNV Conflicting interpretations of pathogenicity 210875 rs150888094 14:102481630-102481630 14:102015293-102015293 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=) SNV Conflicting interpretations of pathogenicity 210878 rs17541165 14:102482408-102482408 14:102016071-102016071 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=) SNV Conflicting interpretations of pathogenicity 210866 rs150286673 14:102515844-102515844 14:102049507-102049507 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.58C>T (p.His20Tyr) SNV Conflicting interpretations of pathogenicity 214656 rs201715603 1:12049283-12049283 1:11989226-11989226 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.311G>T (p.Arg104Leu) SNV Conflicting interpretations of pathogenicity 214651 rs863224068 1:12052747-12052747 1:11992690-11992690 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.725A>G (p.His242Arg) SNV Conflicting interpretations of pathogenicity 214641 rs863224065 1:12059061-12059061 1:11999004-11999004 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.749G>A (p.Arg250Gln) SNV Conflicting interpretations of pathogenicity 214653 rs140234726 1:12059085-12059085 1:11999028-11999028 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.842G>C (p.Cys281Ser) SNV Conflicting interpretations of pathogenicity 214642 rs147136530 1:12061483-12061483 1:12001426-12001426 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LITAF NM_001136473.1(LITAF):c.*43C>G SNV Conflicting interpretations of pathogenicity 208246 rs797044848 16:11643575-11643575 16:11549719-11549719 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LITAF NM_001136473.1(LITAF):c.*24G>A SNV Conflicting interpretations of pathogenicity 208245 rs797044847 16:11643594-11643594 16:11549738-11549738 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.117G>C (p.Trp39Cys) SNV Conflicting interpretations of pathogenicity 208243 rs797044846 17:15162472-15162472 17:15259155-15259155 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.2120C>T (p.Pro707Leu) SNV Conflicting interpretations of pathogenicity 208726 rs797044913 9:130265126-130265126 9:127502847-127502847 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu) SNV Conflicting interpretations of pathogenicity 209157 rs201358272 7:30671863-30671863 7:30632247-30632247 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.2719-6C>T SNV Conflicting interpretations of pathogenicity 210868 rs199763298 14:102455034-102455034 14:101988697-101988697 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy RETREG1 NM_001034850.2(RETREG1):c.826del (p.Ser276fs) deletion Conflicting interpretations of pathogenicity 203444 rs886037748 5:16478190-16478190 5:16478081-16478081 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TTR NM_000371.3(TTR):c.384C>T (p.Ala128=) SNV Conflicting interpretations of pathogenicity 197136 rs143906738 18:29178578-29178578 18:31598615-31598615 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1104C>T (p.Tyr368=) SNV Conflicting interpretations of pathogenicity 198778 rs148157556 11:68696694-68696694 11:68929226-68929226 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.756C>T (p.Asn252=) SNV Conflicting interpretations of pathogenicity 198868 rs137960129 1:12059092-12059092 1:11999035-11999035 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1551G>A (p.Gln517=) SNV Conflicting interpretations of pathogenicity 199111 rs41314035 1:156106966-156106966 1:156137175-156137175 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.892G>A (p.Gly298Arg) SNV Conflicting interpretations of pathogenicity 199133 rs41278630 1:12061533-12061533 1:12001476-12001476 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*1028C>A SNV Conflicting interpretations of pathogenicity 216836 rs200033507 19:40903436-40903436 19:40397529-40397529 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.255A>T (p.Ala85=) SNV Conflicting interpretations of pathogenicity 215968 rs139357821 12:32735056-32735056 12:32582122-32582122 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.2304C>T (p.Leu768=) SNV Conflicting interpretations of pathogenicity 220505 rs140829706 5:148406991-148406991 5:149027428-149027428 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.689T>C (p.Val230Ala) SNV Conflicting interpretations of pathogenicity 219388 rs148634904 5:148421021-148421021 5:149041458-149041458 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.137A>C (p.Gln46Pro) SNV Conflicting interpretations of pathogenicity 219741 rs146162276 5:148431719-148431719 5:149052156-149052156 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.79A>G (p.Thr27Ala) SNV Conflicting interpretations of pathogenicity 220296 rs141649676 5:148431777-148431777 5:149052214-149052214 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3813C>T (p.Ser1271=) SNV Conflicting interpretations of pathogenicity 219968 rs140985600 5:148384328-148384328 5:149004765-149004765 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2872A>G (p.Asn958Asp) SNV Conflicting interpretations of pathogenicity 234907 rs141873613 11:68707089-68707089 11:68939621-68939621 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.5(MTMR2):c.1855T>C (p.Ser619Pro) SNV Conflicting interpretations of pathogenicity 234375 rs116750638 11:95568531-95568531 11:95835367-95835367 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.5(MTMR2):c.1336G>A (p.Glu446Lys) SNV Conflicting interpretations of pathogenicity 234456 rs146572467 11:95578167-95578167 11:95845003-95845003 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3380G>A (p.Arg1127Gln) SNV Conflicting interpretations of pathogenicity 234414 rs139192433 5:148388512-148388512 5:149008949-149008949 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1384G>T (p.Glu462Ter) SNV Conflicting interpretations of pathogenicity 234623 rs749850181 5:148407911-148407911 5:149028348-149028348 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.268G>A (p.Asp90Asn) SNV Conflicting interpretations of pathogenicity 234345 rs117692127 9:130221297-130221297 9:127459018-127459018 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1193C>T (p.Ala398Val) SNV Conflicting interpretations of pathogenicity 234315 rs35193202 11:68696783-68696783 11:68929315-68929315 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1920C>G (p.Leu640=) SNV Conflicting interpretations of pathogenicity 219952 rs141468012 1:12067157-12067157 1:12007100-12007100 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.2088G>A (p.Leu696=) SNV Conflicting interpretations of pathogenicity 221058 rs371157406 19:50339605-50339605 19:49836348-49836348 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1488+8G>A SNV Conflicting interpretations of pathogenicity 227503 rs762836610 1:156106827-156106827 1:156137036-156137036 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*1421G>A SNV Conflicting interpretations of pathogenicity 220724 rs117336941 19:40903043-40903043 19:40397136-40397136 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.3(NDRG1):c.31G>A (p.Ala11Thr) SNV Conflicting interpretations of pathogenicity 220934 rs145871479 8:134296524-134296524 8:133284281-133284281 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.5058A>T (p.Arg1686Ser) SNV Conflicting interpretations of pathogenicity 220725 rs146230559 11:9806845-9806845 11:9785298-9785298 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.3819C>T (p.Ser1273=) SNV Conflicting interpretations of pathogenicity 219812 rs145351367 11:9838546-9838546 11:9816999-9816999 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) SNV Conflicting interpretations of pathogenicity 188174 rs786204123 X:70443982-70443982 X:71224132-71224132 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1017G>A (p.Ala339=) SNV Conflicting interpretations of pathogenicity 191702 rs17847242 1:156105772-156105772 1:156135981-156135981 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1862G>A (p.Arg621His) SNV Conflicting interpretations of pathogenicity 193930 rs143032801 5:148407433-148407433 5:149027870-149027870 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1614-4G>C SNV Conflicting interpretations of pathogenicity 194203 rs376324026 7:30665846-30665846 7:30626230-30626230 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1716G>A (p.Pro572=) SNV Conflicting interpretations of pathogenicity 194367 rs370608239 7:30668192-30668192 7:30628576-30628576 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2618C>T (p.Pro873Leu) SNV Conflicting interpretations of pathogenicity 194369 rs141903179 11:68705656-68705656 11:68938188-68938188 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2922T>G (p.Asp974Glu) SNV Conflicting interpretations of pathogenicity 194494 rs147674615 11:68707139-68707139 11:68939671-68939671 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2793C>T (p.Gly931=) SNV Conflicting interpretations of pathogenicity 194495 rs139926138 11:68707010-68707010 11:68939542-68939542 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.135-6T>G SNV Conflicting interpretations of pathogenicity 195385 rs199743509 19:50321822-50321822 19:49818565-49818565 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.1905-10_1905-9del deletion Conflicting interpretations of pathogenicity 195513 rs58344165 1:10357207-10357208 1:10297149-10297150 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) SNV Conflicting interpretations of pathogenicity 195810 rs117199211 14:102470972-102470972 14:102004635-102004635 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) SNV Conflicting interpretations of pathogenicity 197458 rs117846737 14:102486364-102486364 14:102020027-102020027 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.855G>A (p.Ala285=) SNV Conflicting interpretations of pathogenicity 198143 rs147409148 11:68682434-68682434 11:68914966-68914966 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.741C>T (p.Ala247=) SNV Conflicting interpretations of pathogenicity 198145 rs76707931 11:68682320-68682320 11:68914852-68914852 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.604T>G (p.Phe202Val) SNV Conflicting interpretations of pathogenicity 162196 rs724159958 11:68678964-68678964 11:68911496-68911496 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.4073T>C (p.Val1358Ala) SNV Conflicting interpretations of pathogenicity 155750 rs200561798 1:10421790-10421790 1:10361732-10361732 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SCN9A NM_001365536.1(SCN9A):c.4026delinsTT (p.Leu1342fs) indel Conflicting interpretations of pathogenicity 157598 rs606231279 2:167085381-167085381 2:166228871-166228871 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) SNV Conflicting interpretations of pathogenicity 188089 rs146920285 5:148384455-148384455 5:149004892-149004892 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.3(NDRG1):c.331A>C (p.Met111Leu) SNV Conflicting interpretations of pathogenicity 188374 rs2233328 8:134271469-134271469 8:133259226-133259226 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.1366C>A (p.Pro456Thr) SNV Conflicting interpretations of pathogenicity 188187 rs138160928 12:32772659-32772659 12:32619725-32619725 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1488+14C>T SNV Conflicting interpretations of pathogenicity 178061 rs377700689 1:156106833-156106833 1:156137042-156137042 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1699-8C>G SNV Conflicting interpretations of pathogenicity 163879 rs727503137 1:156108271-156108271 1:156138480-156138480 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TTR NM_000371.4(TTR):c.190T>C (p.Phe64Leu) SNV Conflicting interpretations of pathogenicity 178280 rs138065384 18:29172979-29172979 18:31593016-31593016 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TTR NM_000371.4(TTR):c.14G>A (p.Arg5His) SNV Conflicting interpretations of pathogenicity 181697 rs138657343 18:29171879-29171879 18:31591916-31591916 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TTR NM_000371.3(TTR):c.355G>A (p.Asp119Asn) SNV Conflicting interpretations of pathogenicity 181690 rs76410435 18:29178549-29178549 18:31598586-31598586 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF1 NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn) SNV Conflicting interpretations of pathogenicity 162096 rs690016543 22:50903435-50903435 22:50465006-50465006 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNAJB2 NM_006736.6(DNAJB2):c.229+1G>A SNV Conflicting interpretations of pathogenicity 183041 rs730882139 2:220146494-220146494 2:219281772-219281772 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SETX NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu) SNV Conflicting interpretations of pathogenicity 242634 rs144334281 9:135203176-135203176 9:132327789-132327789 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GAN NM_022041.3(GAN):c.730A>G (p.Ile244Val) SNV Conflicting interpretations of pathogenicity 157527 rs200749953 16:81390486-81390486 16:81356881-81356881 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy REEP1 NM_001371279.1(REEP1):c.793A>G (p.Arg265Gly) SNV Conflicting interpretations of pathogenicity 242633 rs587781248 2:86444224-86444224 2:86217101-86217101 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.4(NEFL):c.794A>G (p.Tyr265Cys) SNV Conflicting interpretations of pathogenicity 155740 rs587777880 8:24813236-24813236 8:24955722-24955722 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SETX NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) SNV Conflicting interpretations of pathogenicity 155745 rs373375060 9:135202760-135202760 9:132327373-132327373 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SETX NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu) SNV Conflicting interpretations of pathogenicity 155746 rs534886444 9:135202712-135202712 9:132327325-132327325 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.1977+6213G>T SNV Conflicting interpretations of pathogenicity 155755 rs587777883 1:10363517-10363517 1:10303459-10303459 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy ARHGEF10 NM_014629.4(ARHGEF10):c.1013G>C (p.Arg338Thr) SNV Conflicting interpretations of pathogenicity 156013 rs587777712 8:1830853-1830853 8:1882687-1882687 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.290-2A>T SNV Conflicting interpretations of pathogenicity 156016 rs587777715 6:110048310-110048310 6:109727107-109727107 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AARS1 NM_001605.2(AARS1):c.2185C>T (p.Arg729Trp) SNV Conflicting interpretations of pathogenicity 155734 rs138081804 16:70289732-70289732 16:70255829-70255829 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1641C>T (p.Leu547=) SNV Conflicting interpretations of pathogenicity 138216 rs140924661 1:12065913-12065913 1:12005856-12005856 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) SNV Conflicting interpretations of pathogenicity 66802 rs150840924 1:156106150-156106150 1:156136359-156136359 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_001127660.1(MFN2):c.107_109AGA[2] (p.Lys38del) short repeat Conflicting interpretations of pathogenicity 30734 rs1478175861 1:12049331-12049333 1:11989274-11989276 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1392+2T>C SNV Conflicting interpretations of pathogenicity 30735 rs111723244 1:12064672-12064672 1:12004615-12004615 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy REEP1 NM_001371279.1(REEP1):c.304-2A>G SNV Conflicting interpretations of pathogenicity 35598 rs387907242 2:86479195-86479195 2:86252072-86252072 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) SNV Conflicting interpretations of pathogenicity 14527 rs142000963 1:156108510-156108510 1:156138719-156138719 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.281del (p.Gly94fs) deletion Conflicting interpretations of pathogenicity 30158 rs80338763 17:15142826-15142826 17:15239509-15239509 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.164G>T (p.Ser55Ile) SNV Conflicting interpretations of pathogenicity 41025 rs281865133 1:161277118-161277118 1:161307328-161307328 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.645+1G>T SNV Conflicting interpretations of pathogenicity 41027 rs281865131 1:161275897-161275897 1:161306107-161306107 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.649C>T (p.Pro217Ser) SNV Conflicting interpretations of pathogenicity 41028 rs281865132 1:161275764-161275764 1:161305974-161305974 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.306del (p.Asp104fs) deletion Conflicting interpretations of pathogenicity 41019 rs281865125 1:161276640-161276640 1:161306850-161306850 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy EGR2 NM_000399.5(EGR2):c.1160C>A (p.Thr387Asn) SNV Conflicting interpretations of pathogenicity 41009 rs281865139 10:64573238-64573238 10:62813478-62813478 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.241C>T (p.His81Tyr) SNV Conflicting interpretations of pathogenicity 41016 rs281865123 1:161276705-161276705 1:161306915-161306915 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*2303del deletion Conflicting interpretations of pathogenicity 38453 rs281865062 19:40902161-40902161 19:40396254-40396254 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SLC5A7 NM_021815.5(SLC5A7):c.1497del (p.Lys499fs) deletion Conflicting interpretations of pathogenicity 39495 rs1558872865 2:108627071-108627071 2:108010615-108010615 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy EGR2 NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln) SNV Conflicting interpretations of pathogenicity 41007 rs281865136 10:64573322-64573322 10:62813562-62813562 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.1325G>A (p.Arg442His) SNV Conflicting interpretations of pathogenicity 38443 rs281865063 12:32764204-32764204 12:32611270-32611270 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TTR NM_000371.3(TTR):c.336+19G>A SNV Conflicting interpretations of pathogenicity 36891 rs75517067 18:29175237-29175237 18:31595274-31595274 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.225del (p.Leu76fs) deletion Conflicting interpretations of pathogenicity 21083 rs116840820 X:70443781-70443781 X:71223931-71223931 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy RETREG1 NM_001034850.2(RETREG1):c.873+2T>C SNV Conflicting interpretations of pathogenicity 21259 rs137852738 5:16478141-16478141 5:16478032-16478032 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1178-1G>A SNV Conflicting interpretations of pathogenicity 21688 rs80338922 5:148408118-148408118 5:149028555-149028555 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1982T>C (p.Leu661Pro) SNV Conflicting interpretations of pathogenicity 21691 rs80338927 5:148407313-148407313 5:149027750-149027750 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.217_227delinsCCAGTAA (p.Ala73fs) indel Conflicting interpretations of pathogenicity 21692 rs80338919 5:148427477-148427487 5:149047914-149047924 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.2642A>T (p.Asn881Ile) SNV Conflicting interpretations of pathogenicity 21695 rs80338930 5:148406653-148406653 5:149027090-149027090 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.28del (p.Glu10fs) deletion Conflicting interpretations of pathogenicity 21697 rs80338918 5:148442558-148442558 5:149062995-149062995 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3326G>C (p.Arg1109Pro) SNV Conflicting interpretations of pathogenicity 21698 rs80338935 5:148389834-148389834 5:149010271-149010271 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.920G>A (p.Trp307Ter) SNV Conflicting interpretations of pathogenicity 21701 rs80338921 5:148417939-148417939 5:149038376-149038376 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.367G>A (p.Gly123Ser) SNV Conflicting interpretations of pathogenicity 14198 rs121913608 1:161276579-161276579 1:161306789-161306789 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.123G>C (p.Glu41Asp) SNV Conflicting interpretations of pathogenicity 21079 rs116840816 X:70443680-70443680 X:71223830-71223830 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.145T>C (p.Ser49Pro) SNV Conflicting interpretations of pathogenicity 21080 rs116840817 X:70443702-70443702 X:71223852-71223852 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys) SNV Conflicting interpretations of pathogenicity 14519 rs58672172 1:156106042-156106042 1:156136251-156136251 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.895A>G (p.Ile299Val) SNV Conflicting interpretations of pathogenicity 48092 rs150924946 1:156105062-156105062 1:156135271-156135271 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.811-13T>A SNV Conflicting interpretations of pathogenicity 48086 rs80356809 1:156104965-156104965 1:156135174-156135174 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) SNV Conflicting interpretations of pathogenicity 66862 rs267607613 1:156107469-156107469 1:156137678-156137678 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.4(NEFL):c.48_60dup (p.Thr21fs) duplication Conflicting interpretations of pathogenicity 66694 rs58640772 8:24813969-24813970 8:24956455-24956456 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.4(NEFL):c.639C>G (p.Ile213Met) SNV Conflicting interpretations of pathogenicity 66695 rs62636522 8:24813391-24813391 8:24955877-24955877 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.4(NEFL):c.23C>G (p.Pro8Arg) SNV Conflicting interpretations of pathogenicity 66688 rs61491953 8:24814007-24814007 8:24956493-24956493 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LITAF NM_001136473.1(LITAF):c.*42C>A SNV Conflicting interpretations of pathogenicity 41230 rs281865135 16:11643576-11643576 16:11549720-11549720 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LITAF NM_001136473.1(LITAF):c.*42C>T SNV Conflicting interpretations of pathogenicity 41231 rs281865135 16:11643576-11643576 16:11549720-11549720 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TTR NM_000371.4(TTR):c.417G>A (p.Thr139=) SNV Conflicting interpretations of pathogenicity 43455 rs2276382 18:29178611-29178611 18:31598648-31598648 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) SNV Conflicting interpretations of pathogenicity 48035 rs61094188 1:156106048-156106048 1:156136257-156136257 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1566C>T (p.Cys522=) SNV Conflicting interpretations of pathogenicity 48043 rs149339264 1:156106981-156106981 1:156137190-156137190 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1851C>T (p.Ala617=) SNV Conflicting interpretations of pathogenicity 48054 rs143189394 1:156108431-156108431 1:156138640-156138640 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.357C>T (p.Arg119=) SNV Conflicting interpretations of pathogenicity 48062 rs41313880 1:156100408-156100408 1:156130617-156130617 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.725C>T (p.Ala242Val) SNV Conflicting interpretations of pathogenicity 48076 rs397517906 1:156104681-156104681 1:156134890-156134890 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.937-7C>G SNV Conflicting interpretations of pathogenicity 66959 rs267607681 1:156105685-156105685 1:156135894-156135894 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.1108T>C (p.Phe370Leu) SNV Conflicting interpretations of pathogenicity 68463 rs140467171 12:57894120-57894120 12:57500337-57500337 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met) SNV Conflicting interpretations of pathogenicity 128930 rs149300055 14:102514328-102514328 14:102047991-102047991 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.652G>A (p.Glu218Lys) SNV Conflicting interpretations of pathogenicity 126481 rs515726168 12:110240856-110240856 12:109803051-109803051 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.12102+6G>A SNV Conflicting interpretations of pathogenicity 128923 rs377669980 14:102508077-102508077 14:102041740-102041740 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.645C>T (p.Ser215=) SNV Conflicting interpretations of pathogenicity 130301 rs80227512 5:148421065-148421065 5:149041502-149041502 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TTR NM_000371.4(TTR):c.371G>A (p.Arg124His) SNV Conflicting interpretations of pathogenicity 13458 rs121918095 18:29178565-29178565 18:31598602-31598602 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy POLG NM_001126131.2(POLG):c.2243G>C (p.Trp748Ser) SNV Conflicting interpretations of pathogenicity 13507 rs113994097 15:89866657-89866657 15:89323426-89323426 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.469C>T (p.Arg157Trp) SNV Conflicting interpretations of pathogenicity 8444 rs28936682 17:15134248-15134248 17:15230931-15230931 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del) deletion Conflicting interpretations of pathogenicity 8441 rs786205111 17:15134362-15134373 17:15231045-15231056 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.353C>T (p.Thr118Met) SNV Conflicting interpretations of pathogenicity 8431 rs104894619 17:15134364-15134364 17:15231047-15231047 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.19_20del (p.Ser7fs) deletion Conflicting interpretations of pathogenicity 8435 rs587776691 17:15164025-15164026 17:15260708-15260709 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy RAB7A NM_004637.5(RAB7A):c.482A>C (p.Asn161Thr) SNV Conflicting interpretations of pathogenicity 7347 rs121909080 3:128526468-128526468 3:128807625-128807625 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy RAB7A NM_004637.5(RAB7A):c.471G>C (p.Lys157Asn) SNV Conflicting interpretations of pathogenicity 7348 rs121909081 3:128526457-128526457 3:128807614-128807614 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SOX10 NM_006941.3(SOX10):c.797del (p.Gly266fs) deletion Conflicting interpretations of pathogenicity 7411 rs397515371 22:38370106-38370106 22:37974099-37974099 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe) SNV Conflicting interpretations of pathogenicity 7478 rs28939680 7:75933158-75933158 7:76303841-76303841 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile) SNV Conflicting interpretations of pathogenicity 7480 rs28937568 7:75933324-75933324 7:76304007-76304007 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNM2 NM_004945.3(DNM2):c.1597G>T (p.Gly533Cys) SNV Conflicting interpretations of pathogenicity 7283 rs121909093 19:10922991-10922991 19:10812315-10812315 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNM2 NM_004945.3(DNM2):c.1697T>A (p.Leu566His) SNV Conflicting interpretations of pathogenicity 7284 rs121909094 19:10930693-10930693 19:10820017-10820017 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNM2 NM_004945.3(DNM2):c.1672A>G (p.Lys558Glu) SNV Conflicting interpretations of pathogenicity 7277 rs121909088 19:10930668-10930668 19:10819992-10819992 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TTR NM_000371.4(TTR):c.328C>A (p.His110Asn) SNV Conflicting interpretations of pathogenicity 13427 rs121918074 18:29175210-29175210 18:31595247-31595247 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TTR NM_000371.4(TTR):c.416C>T (p.Thr139Met) SNV Conflicting interpretations of pathogenicity 13434 rs28933981 18:29178610-29178610 18:31598647-31598647 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy ATP7A NM_000052.7(ATP7A):c.2981C>T (p.Thr994Ile) SNV Conflicting interpretations of pathogenicity 11794 rs267606673 X:77284811-77284811 X:78029314-78029314 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy ATP7A NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser) SNV Conflicting interpretations of pathogenicity 11795 rs267606672 X:77300999-77300999 X:78045502-78045502 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NTRK1 NM_002529.3(NTRK1):c.1076A>G (p.Tyr359Cys) SNV Conflicting interpretations of pathogenicity 12311 rs121964869 1:156843650-156843650 1:156873858-156873858 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.254C>G (p.Ser85Cys) SNV Conflicting interpretations of pathogenicity 10444 rs104894823 X:70443811-70443811 X:71223961-71223961 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.548T>C (p.Leu183Pro) SNV Conflicting interpretations of pathogenicity 9205 rs137852644 7:30640795-30640795 7:30601179-30601179 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.374A>G (p.Glu125Gly) SNV Conflicting interpretations of pathogenicity 9206 rs137852645 7:30639612-30639612 7:30599996-30599996 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_001127660.1(MFN2):c.617C>T (p.Thr206Ile) SNV Conflicting interpretations of pathogenicity 2279 rs119103266 1:12058844-12058844 1:11998787-11998787 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His) SNV Conflicting interpretations of pathogenicity 2485 rs80359890 5:148422281-148422281 5:149042718-149042718 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1403G>A (p.Arg468His) SNV Conflicting interpretations of pathogenicity 2282 rs138382758 1:12064892-12064892 1:12004835-12004835 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.530-2A>G SNV Conflicting interpretations of pathogenicity 2480 rs80338920 5:148421182-148421182 5:149041619-149041619 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.493C>G (p.His165Asp) SNV Conflicting interpretations of pathogenicity 2275 rs119103262 1:12057372-12057372 1:11997315-11997315 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_001304480.1(FGD4):c.1962_1963AG[1] (p.Glu655fs) short repeat Conflicting interpretations of pathogenicity 1013 rs1565921326 12:32777993-32777994 12:32625059-32625060 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.893T>C (p.Met298Thr) SNV Conflicting interpretations of pathogenicity 1015 rs63749871 12:32755151-32755151 12:32602217-32602217 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.1762-2A>G SNV Conflicting interpretations of pathogenicity 1017 rs281865065 12:32786481-32786481 12:32633547-32633547 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.1004C>T (p.Ala335Val) SNV Conflicting interpretations of pathogenicity 1324 rs145770066 19:50334047-50334047 19:49830790-49830790 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.294del (p.Phe98fs) deletion Conflicting interpretations of pathogenicity 1722 rs1562648373 6:110048313-110048313 6:109727110-109727110 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.1043_1050del (p.Asp348fs) deletion Conflicting interpretations of pathogenicity 1724 rs1368013631 6:110064881-110064888 6:109743678-109743685 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.2480C>T (p.Thr827Ile) SNV Conflicting interpretations of pathogenicity 4660 rs121908162 1:10384896-10384896 1:10324838-10324838 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB8 NM_014365.2(HSPB8):c.423G>T (p.Lys141Asn) SNV Conflicting interpretations of pathogenicity 2619 rs104894345 12:119624885-119624885 12:119187080-119187080 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.3(NDRG1):c.538-1G>A SNV Conflicting interpretations of pathogenicity 5121 rs11575976 8:134266839-134266839 8:133254596-133254596 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy ELP1 NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu) SNV Conflicting interpretations of pathogenicity 6087 rs28939712 9:111656342-111656342 9:108894062-108894062 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy YARS1 NM_003680.3(YARS1):c.121G>A (p.Gly41Arg) SNV Conflicting interpretations of pathogenicity 6188 rs121908833 1:33276595-33276595 1:32810994-32810994 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SLC12A6 NM_001365088.1(SLC12A6):c.901del (p.Ile301fs) deletion Conflicting interpretations of pathogenicity 5330 rs606231157 15:34546766-34546766 15:34254565-34254565 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SLC12A6 NM_001365088.1(SLC12A6):c.619C>T (p.Arg207Cys) SNV Conflicting interpretations of pathogenicity 5331 rs121908429 15:34549914-34549914 15:34257713-34257713 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SLC12A6 NM_001365088.1(SLC12A6):c.2995_3004del (p.Gln999fs) deletion Conflicting interpretations of pathogenicity 5332 rs606231158 15:34528947-34528956 15:34236746-34236755 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*791C>T SNV Conflicting interpretations of pathogenicity 4791 rs104894706 19:40903673-40903673 19:40397766-40397766 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.660G>C (p.Val220=) SNV Conflicting interpretations of pathogenicity 697396 5:148421050-148421050 5:149041487-149041487 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.401A>C (p.Tyr134Ser) SNV Conflicting interpretations of pathogenicity 696334 6:110048423-110048423 6:109727220-109727220 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.658A>G (p.Ile220Val) SNV Conflicting interpretations of pathogenicity 695179 6:110059539-110059539 6:109738336-109738336 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.4(NDRG1):c.448G>T (p.Ala150Ser) SNV Conflicting interpretations of pathogenicity 697254 8:134270611-134270611 8:133258368-133258368 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.814C>T (p.Arg272Trp) SNV Conflicting interpretations of pathogenicity 696742 9:130241695-130241695 9:127479416-127479416 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.1406G>A (p.Arg469Gln) SNV Conflicting interpretations of pathogenicity 697181 9:130251781-130251781 9:127489502-127489502 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.1271+5A>G SNV Conflicting interpretations of pathogenicity 663445 6:110081591-110081591 6:109760388-109760388 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.374C>T (p.Thr125Met) SNV Conflicting interpretations of pathogenicity 697392 12:32735175-32735175 12:32582241-32582241 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=) SNV Conflicting interpretations of pathogenicity 696864 14:102476232-102476232 14:102009895-102009895 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.2715C>A (p.Thr905=) SNV Conflicting interpretations of pathogenicity 697161 19:40901544-40901544 19:40395637-40395637 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*1399_*1402del deletion Conflicting interpretations of pathogenicity 637393 19:40903062-40903065 19:40397155-40397158 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.2934T>G (p.Val978=) SNV Conflicting interpretations of pathogenicity 699521 1:10394587-10394587 1:10334529-10334529 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.4(NDRG1):c.403A>G (p.Ile135Val) SNV Conflicting interpretations of pathogenicity 700182 8:134270656-134270656 8:133258413-133258413 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=) SNV Conflicting interpretations of pathogenicity 882014 14:102482381-102482381 14:102016044-102016044 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.1818G>A (p.Pro606=) SNV Conflicting interpretations of pathogenicity 893793 19:40902441-40902441 19:40396534-40396534 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.339G>C (p.Gln113His) SNV Conflicting interpretations of pathogenicity 909677 8:24813691-24813691 8:24956177-24956177 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.1351G>A (p.Ala451Thr) SNV Conflicting interpretations of pathogenicity 841226 9:130251726-130251726 9:127489447-127489447 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNAJB2 NM_006736.6(DNAJB2):c.89G>A (p.Trp30Ter) SNV Conflicting interpretations of pathogenicity 856608 2:220145323-220145323 2:219280601-219280601 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.388G>T (p.Val130Leu) SNV Conflicting interpretations of pathogenicity 704277 9:94842337-94842337 9:92080055-92080055 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.944G>A (p.Arg315Gln) SNV Conflicting interpretations of pathogenicity 700201 19:40903315-40903315 19:40397408-40397408 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PDK3 NM_001142386.3(PDK3):c.341A>C (p.Lys114Thr) SNV Conflicting interpretations of pathogenicity 697832 X:24521464-24521464 X:24503347-24503347 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.211G>A (p.Glu71Lys) SNV Conflicting interpretations of pathogenicity 805017 1:161277071-161277071 1:161307281-161307281 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.4(NEFL):c.509C>G (p.Thr170Ser) SNV Conflicting interpretations of pathogenicity 669317 8:24813521-24813521 8:24956007-24956007 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.4443+1G>C SNV Conflicting interpretations of pathogenicity 637854 11:9829546-9829546 11:9807999-9807999 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.2541G>A (p.Val847=) SNV Conflicting interpretations of pathogenicity 649397 14:102453792-102453792 14:101987455-101987455 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LITAF NM_001136473.1(LITAF):c.331G>A (p.Ala111Thr) SNV Conflicting interpretations of pathogenicity 639258 16:11647435-11647435 16:11553579-11553579 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.272T>G (p.Val91Gly) SNV Conflicting interpretations of pathogenicity 694943 1:12052708-12052708 1:11992651-11992651 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1273C>T (p.Arg425Cys) SNV Conflicting interpretations of pathogenicity 637695 11:68700804-68700804 11:68933336-68933336 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2362C>T (p.Arg788Ter) SNV Conflicting interpretations of pathogenicity 637262 11:68704310-68704310 11:68936842-68936842 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy ATL1 NM_015915.5(ATL1):c.976del (p.Val326fs) deletion Conflicting interpretations of pathogenicity 637513 14:51087429-51087429 14:50620711-50620711 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*590_*599dup duplication Conflicting interpretations of pathogenicity 637915 19:40903864-40903865 19:40397957-40397958 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy INF2 NM_022489.4(INF2):c.640C>T (p.Arg214Cys) SNV Conflicting interpretations of pathogenicity 635443 14:105169764-105169764 14:104703427-104703427 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1127T>C (p.Met376Thr) SNV Conflicting interpretations of pathogenicity 637733 1:12062127-12062127 1:12002070-12002070 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.8G>C (p.Trp3Ser) SNV Conflicting interpretations of pathogenicity 543926 rs1555936989 X:70443565-70443565 X:71223715-71223715 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1403C>T (p.Ala468Val) SNV Conflicting interpretations of pathogenicity 546985 rs6874630 5:148407892-148407892 5:149028329-149028329 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.2320C>T (p.Arg774Cys) SNV Conflicting interpretations of pathogenicity 536854 rs145102919 12:110224531-110224531 12:109786726-109786726 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.5(MTMR2):c.1741A>G (p.Ile581Val) SNV Conflicting interpretations of pathogenicity 543419 rs149476960 11:95569341-95569341 11:95836177-95836177 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.617C>T (p.Pro206Leu) SNV Conflicting interpretations of pathogenicity 542171 rs138776588 12:57884116-57884116 12:57490333-57490333 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.556C>T (p.Arg186Trp) SNV Conflicting interpretations of pathogenicity 619180 rs776291104 19:50333073-50333073 19:49829816-49829816 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy INF2 NM_022489.4(INF2):c.550G>A (p.Glu184Lys) SNV Conflicting interpretations of pathogenicity 599128 rs1566778676 14:105169674-105169674 14:104703337-104703337 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1327C>T (p.Arg443Cys) SNV Conflicting interpretations of pathogenicity 617575 rs751549678 11:68700858-68700858 11:68933390-68933390 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.590C>T (p.Ala197Val) SNV Conflicting interpretations of pathogenicity 617760 rs1569215418 X:70444147-70444147 X:71224297-71224297 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.394T>C (p.Trp132Arg) SNV Conflicting interpretations of pathogenicity 617787 rs1569215263 X:70443951-70443951 X:71224101-71224101 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.431del (p.Leu144fs) deletion Conflicting interpretations of pathogenicity 631569 rs1182353109 1:161276515-161276515 1:161306725-161306725 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.540C>G (p.Phe180Leu) SNV Conflicting interpretations of pathogenicity 578250 rs771022595 X:70444097-70444097 X:71224247-71224247 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.3(NDRG1):c.1134G>A (p.Ser378=) SNV Conflicting interpretations of pathogenicity 639526 8:134251172-134251172 8:133238929-133238929 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.3(NDRG1):c.1053_1082del (p.340_349TRSRSHTSEG[2]) deletion Conflicting interpretations of pathogenicity 639524 8:134251224-134251253 8:133238981-133239010 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy EGR2 NM_000399.5(EGR2):c.1352G>A (p.Gly451Asp) SNV Conflicting interpretations of pathogenicity 570320 rs138967272 10:64573046-64573046 10:62813286-62813286 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.5(MTMR2):c.16A>T (p.Ser6Cys) SNV Conflicting interpretations of pathogenicity 476870 rs377006678 11:95657103-95657103 11:95923939-95923939 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1551C>T (p.Leu517=) SNV Conflicting interpretations of pathogenicity 466578 rs150549628 11:68701945-68701945 11:68934477-68934477 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1064C>T (p.Ala355Val) SNV Conflicting interpretations of pathogenicity 466572 rs142062146 11:68696654-68696654 11:68929186-68929186 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.459G>A (p.Pro153=) SNV Conflicting interpretations of pathogenicity 467762 rs149804782 8:75272520-75272520 8:74360285-74360285 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg) SNV Conflicting interpretations of pathogenicity 467773 rs775622226 8:75276336-75276336 8:74364101-74364101 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.24C>T (p.Ser8=) SNV Conflicting interpretations of pathogenicity 462791 rs144841836 1:161279672-161279672 1:161309882-161309882 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.965C>T (p.Thr322Met) SNV Conflicting interpretations of pathogenicity 467776 rs199529910 8:75276490-75276490 8:74364255-74364255 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.4(NEFL):c.338_339delinsCC (p.Gln113Pro) indel Conflicting interpretations of pathogenicity 464926 rs1554497641 8:24813691-24813692 8:24956177-24956178 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.2154A>G (p.Pro718=) SNV Conflicting interpretations of pathogenicity 476855 rs201138266 6:110110854-110110854 6:109789651-109789651 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1482C>T (p.Leu494=) SNV Conflicting interpretations of pathogenicity 476885 rs200665714 5:148407813-148407813 5:149028250-149028250 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*1198G>A SNV Conflicting interpretations of pathogenicity 476984 rs146323928 19:40903266-40903266 19:40397359-40397359 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*3913G>A SNV Conflicting interpretations of pathogenicity 476966 rs202119177 19:40900551-40900551 19:40394644-40394644 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.958C>T (p.Arg320Ter) SNV Conflicting interpretations of pathogenicity 469047 rs142902080 12:110236613-110236613 12:109798808-109798808 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.1812C>T (p.Asp604=) SNV Conflicting interpretations of pathogenicity 516031 rs765658939 11:9983552-9983552 11:9962005-9962005 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.2869-3C>T SNV Conflicting interpretations of pathogenicity 513201 rs750614475 14:102457861-102457861 14:101991524-101991524 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=) SNV Conflicting interpretations of pathogenicity 514404 rs374214760 14:102504829-102504829 14:102038492-102038492 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.12075C>T (p.Leu4025=) SNV Conflicting interpretations of pathogenicity 516470 rs373636519 14:102508044-102508044 14:102041707-102041707 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.2304G>C (p.Ser768=) SNV Conflicting interpretations of pathogenicity 499138 rs138986228 12:110224547-110224547 12:109786742-109786742 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.2413T>A (p.Leu805Met) SNV Conflicting interpretations of pathogenicity 501119 rs139572764 1:10384829-10384829 1:10324771-10324771 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.3(NDRG1):c.944-13C>T SNV Conflicting interpretations of pathogenicity 507023 rs753312340 8:134251375-134251375 8:133239132-133239132 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.1700A>T (p.Tyr567Phe) SNV Conflicting interpretations of pathogenicity 521669 rs763889344 12:110230581-110230581 12:109792776-109792776 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.1633G>A (p.Gly545Arg) SNV Conflicting interpretations of pathogenicity 543291 rs145266399 1:10355818-10355818 1:10295760-10295760 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.2689G>A (p.Ala897Thr) SNV Conflicting interpretations of pathogenicity 543173 rs142567076 1:10386320-10386320 1:10326262-10326262 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.365-6C>G SNV Conflicting interpretations of pathogenicity 533816 rs200902768 7:75933113-75933113 7:76303796-76303796 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.300G>A (p.Arg100=) SNV Conflicting interpretations of pathogenicity 543464 rs368831195 6:110048322-110048322 6:109727119-109727119 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.748C>T (p.Arg250Trp) SNV Conflicting interpretations of pathogenicity 543219 rs373107074 1:12059084-12059084 1:11999027-11999027 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.175G>C (p.Gly59Arg) SNV Conflicting interpretations of pathogenicity 447427 rs1555937077 X:70443732-70443732 X:71223882-71223882 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.478T>C (p.Tyr160His) SNV Conflicting interpretations of pathogenicity 447432 rs1555937197 X:70444035-70444035 X:71224185-71224185 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3127G>T (p.Ala1043Ser) SNV Conflicting interpretations of pathogenicity 451327 rs200819602 5:148392224-148392224 5:149012661-149012661 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.818T>G (p.Val273Gly) SNV Conflicting interpretations of pathogenicity 449524 rs1458700065 1:12061459-12061459 1:12001402-12001402 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.120C>G (p.Phe40Leu) SNV Conflicting interpretations of pathogenicity 449988 rs142153571 9:94874782-94874782 9:92112500-92112500 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.364+6C>G SNV Conflicting interpretations of pathogenicity 447529 rs753061670 7:75932399-75932399 7:76303082-76303082 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.277G>A (p.Asp93Asn) SNV Conflicting interpretations of pathogenicity 432537 rs777201941 7:75932306-75932306 7:76302989-76302989 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1603A>G (p.Ile535Val) SNV Conflicting interpretations of pathogenicity 432239 rs140221316 11:68701997-68701997 11:68934529-68934529 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.233T>C (p.Leu78Pro) SNV Conflicting interpretations of pathogenicity 431943 rs1555565276 17:15142874-15142874 17:15239557-15239557 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.703_705AAG[1] (p.Lys236del) short repeat Conflicting interpretations of pathogenicity 447734 rs755446743 1:161275705-161275707 1:161305915-161305917 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.3(NDRG1):c.1101C>T (p.Ser367=) SNV Conflicting interpretations of pathogenicity 447748 rs201959970 8:134251205-134251205 8:133238962-133238962 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.523A>G (p.Thr175Ala) SNV Conflicting interpretations of pathogenicity 448711 rs146304351 12:110246137-110246137 12:109808332-109808332 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3511C>T (p.Arg1171Cys) SNV Conflicting interpretations of pathogenicity 448370 rs759785462 5:148386608-148386608 5:149007045-149007045 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.148T>C (p.Ser50Pro) SNV Conflicting interpretations of pathogenicity 430122 rs913934445 X:70443705-70443705 X:71223855-71223855 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.566T>G (p.Val189Gly) SNV Conflicting interpretations of pathogenicity 420023 rs1064794244 X:70444123-70444123 X:71224273-71224273 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2869A>G (p.Lys957Glu) SNV Conflicting interpretations of pathogenicity 424987 rs370985388 11:68707086-68707086 11:68939618-68939618 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3676-8G>A SNV Conflicting interpretations of pathogenicity 426503 rs772823083 5:148384473-148384473 5:149004910-149004910 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.165G>C (p.Gln55His) SNV Conflicting interpretations of pathogenicity 426960 rs201692151 11:68673615-68673615 11:68906147-68906147 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AIFM1 NM_004208.4(AIFM1):c.602G>A (p.Arg201Lys) SNV Conflicting interpretations of pathogenicity 427033 rs886703882 X:129281471-129281471 X:130147496-130147496 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*1097C>T SNV Conflicting interpretations of pathogenicity 418427 rs185112635 19:40903367-40903367 19:40397460-40397460 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy EGR2 NM_000399.5(EGR2):c.897_899AGC[6] (p.Ala309dup) short repeat Conflicting interpretations of pathogenicity 419028 rs746688326 10:64573486-64573487 10:62813726-62813727 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.1913C>T (p.Pro638Leu) SNV Conflicting interpretations of pathogenicity 418525 rs35058636 12:110226500-110226500 12:109788695-109788695 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.68C>G (p.Thr23Arg) SNV Conflicting interpretations of pathogenicity 411592 rs906563423 17:15163977-15163977 17:15260660-15260660 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LITAF NM_001136473.1(LITAF):c.302A>G (p.Lys101Arg) SNV Conflicting interpretations of pathogenicity 404114 rs201283647 16:11647464-11647464 16:11553608-11553608 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.178+7C>A SNV Conflicting interpretations of pathogenicity 416789 rs147885521 17:15162404-15162404 17:15259087-15259087 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.94G>A (p.Asp32Asn) SNV Conflicting interpretations of pathogenicity 408269 rs150784835 9:130217298-130217298 9:127455019-127455019 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.1019dup (p.Arg341fs) duplication Conflicting interpretations of pathogenicity 406140 rs756461496 8:75276540-75276541 8:74364305-74364306 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1483A>G (p.Thr495Ala) SNV Conflicting interpretations of pathogenicity 407267 rs10077543 5:148407812-148407812 5:149028249-149028249 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.73G>T (p.Asp25Tyr) SNV Conflicting interpretations of pathogenicity 414373 rs10066882 5:148431783-148431783 5:149052220-149052220 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1085C>G (p.Thr362Arg) SNV Conflicting interpretations of pathogenicity 408317 rs387906991 1:12062085-12062085 1:12002028-12002028 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.3002C>T (p.Ser1001Leu) SNV Uncertain significance 73019 rs267597898 1:10397142-10397142 1:10337084-10337084 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.1701C>A (p.Tyr567Ter) SNV Uncertain significance 126466 rs515726156 12:110230580-110230580 12:109792775-109792775 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.99G>T (p.Glu33Asp) SNV Uncertain significance 66965 rs57966821 1:156084808-156084808 1:156115017-156115017 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.864_867del (p.His289fs) deletion Uncertain significance 66948 rs60168366 1:156105030-156105033 1:156135239-156135242 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.749C>T (p.Ala250Val) SNV Uncertain significance 48078 rs397517907 1:156104705-156104705 1:156134914-156134914 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.2047-1G>A SNV Uncertain significance 41418 rs1564287793 9:130265052-130265052 9:127502773-127502773 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.4(NEFL):c.19G>A (p.Glu7Lys) SNV Uncertain significance 66684 rs57848467 8:24814011-24814011 8:24956497-24956497 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1698+13C>T SNV Uncertain significance 66611 rs80338938 1:156107547-156107547 1:156137756-156137756 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1318G>A (p.Val440Met) SNV Uncertain significance 14520 rs121912493 1:156106165-156106165 1:156136374-156136374 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys) SNV Uncertain significance 14503 rs28928902 1:156106742-156106742 1:156136951-156136951 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.341T>C (p.Ile114Thr) SNV Uncertain significance 242787 rs267607241 1:161276605-161276605 1:161306815-161306815 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.346A>C (p.Asn116His) SNV Uncertain significance 242748 rs267607242 1:161276600-161276600 1:161306810-161306810 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*2156G>A SNV Uncertain significance 38452 rs3814290 19:40902308-40902308 19:40396401-40396401 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.337G>T (p.Val113Phe) SNV Uncertain significance 41020 rs281865126 1:161276609-161276609 1:161306819-161306819 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.347A>G (p.Asn116Ser) SNV Uncertain significance 41026 rs281865130 1:161276599-161276599 1:161306809-161306809 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SETX NM_015046.7(SETX):c.3880C>T (p.Arg1294Cys) SNV Uncertain significance 446190 rs267607044 9:135203105-135203105 9:132327718-132327718 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.4(NEFL):c.1007T>C (p.Leu336Pro) SNV Uncertain significance 155737 rs587777881 8:24813023-24813023 8:24955509-24955509 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.790C>T (p.Arg264Cys) SNV Uncertain significance 155727 rs587777879 X:70444347-70444347 X:71224497-71224497 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys) SNV Uncertain significance 156025 rs587777718 12:57906632-57906632 12:57512849-57512849 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.3269T>C (p.Ile1090Thr) SNV Uncertain significance 155749 rs374098797 1:10397576-10397576 1:10337518-10337518 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SETX NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) SNV Uncertain significance 155742 rs534723946 9:135205481-135205481 9:132330094-132330094 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SETX NM_015046.7(SETX):c.3075_3076insTGA (p.Arg1026Ter) insertion Uncertain significance 242632 rs587781249 9:135203909-135203910 9:132328522-132328523 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SEPTIN9 NM_001113491.2(SEPTIN9):c.866G>A (p.Arg289His) SNV Uncertain significance 157523 rs587781247 17:75478370-75478370 17:77482288-77482288 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SETX NM_015046.7(SETX):c.6792A>G (p.Ile2264Met) SNV Uncertain significance 157524 rs148041889 9:135153507-135153507 9:132278120-132278120 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TTR NM_000371.3(TTR):c.368G>A (p.Arg123His) SNV Uncertain significance 181698 rs148538950 18:29178562-29178562 18:31598599-31598599 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TTR NM_000371.3(TTR):c.280G>C (p.Asp94His) SNV Uncertain significance 181695 rs730881164 18:29175162-29175162 18:31595199-31595199 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.31C>T (p.Arg11Trp) SNV Uncertain significance 188129 rs149762843 5:148442555-148442555 5:149062992-149062992 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1870C>T (p.Arg624Cys) SNV Uncertain significance 161293 rs140455668 1:156108450-156108450 1:156138659-156138659 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala) SNV Uncertain significance 155752 rs371138642 8:75263639-75263639 8:74351404-74351404 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GAN NM_022041.3(GAN):c.1084G>A (p.Glu362Lys) SNV Uncertain significance 157535 rs587779384 16:81396214-81396214 16:81362609-81362609 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.5(MTMR2):c.810A>C (p.Leu270Phe) SNV Uncertain significance 157536 rs587779385 11:95583021-95583021 11:95849857-95849857 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AARS1 NM_001605.2(AARS1):c.497T>G (p.Ile166Ser) SNV Uncertain significance 157537 rs199997425 16:70305858-70305858 16:70271955-70271955 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy ARHGEF10 NM_014629.4(ARHGEF10):c.2197C>T (p.His733Tyr) SNV Uncertain significance 157538 rs147531758 8:1871183-1871183 8:1923017-1923017 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.5(MTMR2):c.*53G>A SNV Uncertain significance 157539 rs587779387 11:95568401-95568401 11:95835237-95835237 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GAN NM_022041.3(GAN):c.23C>G (p.Ser8Cys) SNV Uncertain significance 157530 rs587781251 16:81348741-81348741 16:81315136-81315136 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.881A>G (p.Lys294Arg) SNV Uncertain significance 157531 rs373698346 1:10335502-10335502 1:10275444-10275444 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3550A>G (p.Met1184Val) SNV Uncertain significance 157532 rs142451273 5:148386569-148386569 5:149007006-149007006 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1342G>C (p.Asp448His) SNV Uncertain significance 157533 rs587781252 5:148407953-148407953 5:149028390-149028390 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy CNTNAP2 duplication Uncertain significance 190033 7:146705271-146748724 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SEMA5A deletion Uncertain significance 190035 5:9129755-9257708 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AARS1 NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) SNV Uncertain significance 190103 rs143370729 16:70289666-70289666 16:70255763-70255763 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.3127A>G (p.Ile1043Val) SNV Uncertain significance 220646 rs147438385 11:9864301-9864301 11:9842754-9842754 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.1424A>G (p.Gln475Arg) SNV Uncertain significance 220352 rs199894823 11:9990064-9990064 11:9968517-9968517 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.247C>G (p.Gln83Glu) SNV Uncertain significance 220541 rs143148835 19:50322495-50322495 19:49819238-49819238 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.7539G>C (p.Glu2513Asp) SNV Uncertain significance 220931 rs376901405 14:102482751-102482751 14:102016414-102016414 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LITAF NM_001136473.1(LITAF):c.*118G>A SNV Uncertain significance 221090 rs864622744 16:11643500-11643500 16:11549644-11549644 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.5(MTMR2):c.56C>T (p.Pro19Leu) SNV Uncertain significance 234848 rs574213477 11:95657063-95657063 11:95923899-95923899 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.1912C>G (p.Pro638Ala) SNV Uncertain significance 234727 rs760044422 12:110226501-110226501 12:109788696-109788696 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DCTN2 NM_006400.4(DCTN2):c.337C>T (p.His113Tyr) SNV Uncertain significance 217860 rs863223327 12:57928880-57928880 12:57535097-57535097 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.767C>G (p.Ala256Gly) SNV Uncertain significance 218603 rs148095551 11:68682346-68682346 11:68914878-68914878 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.347T>C (p.Met116Thr) SNV Uncertain significance 242508 rs281865060 8:75272408-75272408 8:74360173-74360173 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.163A>G (p.Thr55Ala) SNV Uncertain significance 216293 rs863224613 X:70443720-70443720 X:71223870-71223870 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.647G>A (p.Arg216His) SNV Uncertain significance 200964 rs757041809 1:156104603-156104603 1:156134812-156134812 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1591C>A (p.Pro531Thr) SNV Uncertain significance 204302 rs756985703 11:68701985-68701985 11:68934517-68934517 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.3824G>A (p.Arg1275His) SNV Uncertain significance 216776 rs150028248 11:9838541-9838541 11:9816994-9816994 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.708+5CTC[2] short repeat Uncertain significance 216874 rs863224842 1:12058940-12058942 1:11998883-11998885 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1574A>G (p.Asn525Ser) SNV Uncertain significance 214634 rs145654854 1:12065846-12065846 1:12005789-12005789 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.3(NDRG1):c.63+6T>C SNV Uncertain significance 216637 rs199597649 8:134296486-134296486 8:133284243-133284243 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1973G>A (p.Arg658His) SNV Uncertain significance 216739 rs138040787 5:148407322-148407322 5:149027759-149027759 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.809T>C (p.Met270Thr) SNV Uncertain significance 246495 rs771996573 1:12059145-12059145 1:11999088-11999088 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.572T>C (p.Leu191Pro) SNV Uncertain significance 246494 rs879254288 1:12057451-12057451 1:11997394-11997394 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.571G>A (p.Val191Met) SNV Uncertain significance 245677 rs879253896 1:156104251-156104251 1:156134460-156134460 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln) SNV Uncertain significance 246074 rs138592977 1:156105759-156105759 1:156135968-156135968 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1150C>T (p.Arg384Trp) SNV Uncertain significance 245900 rs777353788 1:12062150-12062150 1:12002093-12002093 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.2954A>G (p.Glu985Gly) SNV Uncertain significance 246193 rs575937427 5:148406234-148406234 5:149026671-149026671 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1254G>T (p.Gln418His) SNV Uncertain significance 246248 rs146997517 5:148408041-148408041 5:149028478-149028478 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1002-5T>A SNV Uncertain significance 245849 rs769711653 5:148411255-148411255 5:149031692-149031692 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1000A>G (p.Met334Val) SNV Uncertain significance 246592 rs139653980 5:148417859-148417859 5:149038296-149038296 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1754T>C (p.Met585Thr) SNV Uncertain significance 246215 rs374378925 7:30668230-30668230 7:30628614-30628614 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.861+5G>C SNV Uncertain significance 245819 rs879253963 11:10022456-10022456 11:10000909-10000909 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.381C>G (p.Ser127Arg) SNV Uncertain significance 245834 rs775782198 11:68675737-68675737 11:68908269-68908269 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1844G>A (p.Arg615His) SNV Uncertain significance 245883 rs201640213 11:68703792-68703792 11:68936324-68936324 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.3(NDRG1):c.122A>G (p.His41Arg) SNV Uncertain significance 245649 rs2233318 8:134276873-134276873 8:133264630-133264630 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.4(NEFL):c.1179G>C (p.Leu393Phe) SNV Uncertain significance 245748 rs879253927 8:24811300-24811300 8:24953786-24953786 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3160C>T (p.His1054Tyr) SNV Uncertain significance 241505 rs769133498 5:148392191-148392191 5:149012628-149012628 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.2990G>A (p.Arg997Gln) SNV Uncertain significance 241504 rs140307699 5:148406198-148406198 5:149026635-149026635 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*1127A>G SNV Uncertain significance 242187 rs753330520 19:40903337-40903337 19:40397430-40397430 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*2895G>A SNV Uncertain significance 242181 rs752531623 19:40901569-40901569 19:40395662-40395662 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.5(MTMR2):c.1402G>C (p.Asp468His) SNV Uncertain significance 241075 rs142460913 11:95574858-95574858 11:95841694-95841694 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*921C>T SNV Uncertain significance 246038 rs528907584 19:40903543-40903543 19:40397636-40397636 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.361C>T (p.Arg121Trp) SNV Uncertain significance 246283 rs750435566 19:40904547-40904547 19:40398640-40398640 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*3861C>T SNV Uncertain significance 245707 rs201393544 19:40900603-40900603 19:40394696-40394696 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LITAF NM_001136473.1(LITAF):c.*117C>T SNV Uncertain significance 245638 rs748017885 16:11643501-11643501 16:11549645-11549645 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AARS1 NM_001605.2(AARS1):c.2222C>T (p.Thr741Met) SNV Uncertain significance 246148 rs148383122 16:70289695-70289695 16:70255792-70255792 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AARS1 NM_001605.2(AARS1):c.1222G>A (p.Gly408Arg) SNV Uncertain significance 246399 rs369135192 16:70301562-70301562 16:70267659-70267659 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AARS1 NM_001605.2(AARS1):c.385C>G (p.Pro129Ala) SNV Uncertain significance 246216 rs370622071 16:70310483-70310483 16:70276580-70276580 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*4424T>G SNV Uncertain significance 246041 rs146468976 19:40900040-40900040 19:40394133-40394133 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*4317G>A SNV Uncertain significance 246575 rs377009047 19:40900147-40900147 19:40394240-40394240 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HADHB NM_000183.3(HADHB):c.210-1G>C SNV Uncertain significance 253052 rs200777054 2:26492820-26492820 2:26269952-26269952 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.37G>T (p.Gly13Trp) SNV Uncertain significance 245716 rs763302555 12:110252565-110252565 12:109814760-109814760 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1340C>G (p.Ala447Gly) SNV Uncertain significance 305845 rs144240271 11:68700871-68700871 11:68933403-68933403 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.4712A>G (p.Asn1571Ser) SNV Uncertain significance 306581 rs371960255 11:9810876-9810876 11:9789329-9789329 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AARS1 NM_001605.2(AARS1):c.1253A>G (p.Tyr418Cys) SNV Uncertain significance 320344 rs147433234 16:70299535-70299535 16:70265632-70265632 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.4522C>T (p.Arg1508Cys) SNV Uncertain significance 306583 rs141108330 11:9817426-9817426 11:9795879-9795879 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.1519G>A (p.Glu507Lys) SNV Uncertain significance 306606 rs139217120 11:9989969-9989969 11:9968422-9968422 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.3(NDRG1):c.664G>A (p.Gly222Ser) SNV Uncertain significance 362035 rs199995009 8:134262717-134262717 8:133250474-133250474 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.146C>A (p.Ser49Tyr) SNV Uncertain significance 291465 rs143654307 1:10316344-10316344 1:10256286-10256286 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DST NM_015548.5(DST):c.2435C>T (p.Ala812Val) SNV Uncertain significance 357601 rs150656535 6:56496105-56496105 6:56631307-56631307 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1721A>G (p.Asn574Ser) SNV Uncertain significance 351913 rs201256776 5:148407574-148407574 5:149028011-149028011 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.1781G>A (p.Arg594His) SNV Uncertain significance 288562 rs537838691 9:130258325-130258325 9:127496046-127496046 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.4(NEFL):c.22C>A (p.Pro8Thr) SNV Uncertain significance 287020 rs886043551 8:24814008-24814008 8:24956494-24956494 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AARS1 NM_001605.2(AARS1):c.2192C>T (p.Ser731Leu) SNV Uncertain significance 284220 rs150873930 16:70289725-70289725 16:70255822-70255822 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.2581C>T (p.Arg861Trp) SNV Uncertain significance 284014 rs147490172 5:148406714-148406714 5:149027151-149027151 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.897C>G (p.Ile299Met) SNV Uncertain significance 283398 rs762718963 1:156105064-156105064 1:156135273-156135273 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.877G>A (p.Val293Ile) SNV Uncertain significance 392704 rs761171176 11:68682456-68682456 11:68914988-68914988 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AIFM1 NM_004208.4(AIFM1):c.1597G>A (p.Glu533Lys) SNV Uncertain significance 372555 rs1057517852 X:129264118-129264118 X:130130143-130130143 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.1966C>A (p.Pro656Thr) SNV Uncertain significance 329887 rs199761611 19:50339483-50339483 19:49836226-49836226 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*2033G>A SNV Uncertain significance 329273 rs537664679 19:40902431-40902431 19:40396524-40396524 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*705G>C SNV Uncertain significance 329286 rs757322355 19:40903759-40903759 19:40397852-40397852 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AARS1 NM_001605.2(AARS1):c.2129C>T (p.Pro710Leu) SNV Uncertain significance 320333 rs754391789 16:70291984-70291984 16:70258081-70258081 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*3476G>A SNV Uncertain significance 329257 rs368459753 19:40900988-40900988 19:40395081-40395081 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*744C>T SNV Uncertain significance 329285 rs540526276 19:40903720-40903720 19:40397813-40397813 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.379C>T (p.Leu127=) SNV Uncertain significance 329289 rs886054441 19:40904529-40904529 19:40398622-40398622 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.392A>G (p.Asn131Ser) SNV Uncertain significance 369728 rs776404901 1:12056293-12056293 1:11996236-11996236 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.317G>A (p.Arg106His) SNV Uncertain significance 411670 rs145039212 1:161276629-161276629 1:161306839-161306839 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.278G>A (p.Gly93Glu) SNV Uncertain significance 411666 rs1060503418 1:161276668-161276668 1:161306878-161306878 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.2021C>T (p.Thr674Ile) SNV Uncertain significance 408312 rs41274468 1:10380144-10380144 1:10320086-10320086 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.1879A>G (p.Thr627Ala) SNV Uncertain significance 407087 rs762859144 6:110098253-110098253 6:109777050-109777050 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.517C>A (p.Leu173Met) SNV Uncertain significance 407269 rs147633804 5:148422269-148422269 5:149042706-149042706 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.592G>C (p.Glu198Gln) SNV Uncertain significance 411672 rs770994564 1:161275951-161275951 1:161306161-161306161 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3413G>A (p.Ser1138Asn) SNV Uncertain significance 407264 rs150805608 5:148388479-148388479 5:149008916-149008916 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.604C>G (p.Gln202Glu) SNV Uncertain significance 408270 rs746274685 9:130230094-130230094 9:127467815-127467815 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1607G>A (p.Arg536Gln) SNV Uncertain significance 407266 rs369977771 5:148407688-148407688 5:149028125-149028125 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy EGR2 NM_000399.5(EGR2):c.1235A>G (p.Glu412Gly) SNV Uncertain significance 409979 rs749558026 10:64573163-64573163 10:62813403-62813403 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.1976C>T (p.Ser659Leu) SNV Uncertain significance 409288 rs779715512 12:110226437-110226437 12:109788632-109788632 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.1045A>G (p.Lys349Glu) SNV Uncertain significance 403855 rs746685729 11:10015476-10015476 11:9993929-9993929 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.847T>A (p.Tyr283Asn) SNV Uncertain significance 409292 rs200210023 12:110238429-110238429 12:109800624-109800624 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AARS1 NM_001605.2(AARS1):c.1019A>G (p.Asn340Ser) SNV Uncertain significance 412288 rs140135726 16:70302226-70302226 16:70268323-70268323 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*2753C>G SNV Uncertain significance 410603 rs141686828 19:40901711-40901711 19:40395804-40395804 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TTR NM_000371.3(TTR):c.370C>T (p.Arg124Cys) SNV Uncertain significance 404412 rs745834030 18:29178564-29178564 18:31598601-31598601 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*3785C>G SNV Uncertain significance 410604 rs149732789 19:40900679-40900679 19:40394772-40394772 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.2230G>A (p.Glu744Lys) SNV Uncertain significance 420586 rs1064794571 1:12071578-12071578 1:12011521-12011521 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NTRK1 NM_002529.3(NTRK1):c.1474G>A (p.Glu492Lys) SNV Uncertain significance 418887 rs144901788 1:156845431-156845431 1:156875639-156875639 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*887C>T SNV Uncertain significance 424325 rs751238438 19:40903577-40903577 19:40397670-40397670 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.14G>T (p.Gly5Val) SNV Uncertain significance 418234 rs1064793139 X:70443571-70443571 X:71223721-71223721 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.1967G>C (p.Cys656Ser) SNV Uncertain significance 429748 rs138120231 11:9879906-9879906 11:9858359-9858359 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AARS1 NM_001605.2(AARS1):c.1949A>G (p.Lys650Arg) SNV Uncertain significance 429803 rs142233951 16:70292926-70292926 16:70259023-70259023 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.2812C>T (p.His938Tyr) SNV Uncertain significance 448368 rs144688852 5:148406483-148406483 5:149026920-149026920 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1651T>C (p.Phe551Leu) SNV Uncertain significance 448367 rs1554121720 5:148407644-148407644 5:149028081-149028081 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.284G>A (p.Arg95Lys) SNV Uncertain significance 448089 rs1555565234 17:15142823-15142823 17:15239506-15239506 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.925A>G (p.Lys309Glu) SNV Uncertain significance 439817 rs200079527 11:68685216-68685216 11:68917748-68917748 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.193A>G (p.Thr65Ala) SNV Uncertain significance 447727 rs1553259760 1:161277089-161277089 1:161307299-161307299 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.292A>G (p.Lys98Glu) SNV Uncertain significance 447723 rs1553141706 1:12052728-12052728 1:11992671-11992671 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1128G>A (p.Met376Ile) SNV Uncertain significance 447715 rs1553144059 1:12062128-12062128 1:12002071-12002071 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1988G>T (p.Arg663Leu) SNV Uncertain significance 447720 rs766735605 1:12067225-12067225 1:12007168-12007168 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1121T>C (p.Ile374Thr) SNV Uncertain significance 433161 rs1193634362 11:68696711-68696711 11:68929243-68929243 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1523C>T (p.Ser508Leu) SNV Uncertain significance 433162 rs754465226 11:68701367-68701367 11:68933899-68933899 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.1124A>G (p.Gln375Arg) SNV Uncertain significance 436639 rs770153492 11:10014580-10014580 11:9993033-9993033 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.1180C>T (p.Arg394Cys) SNV Uncertain significance 432403 rs916967743 12:57894192-57894192 12:57500409-57500409 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.904-4del deletion Uncertain significance 432408 rs757987823 9:130242114-130242114 9:127479835-127479835 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*1427C>T SNV Uncertain significance 444468 rs150244426 19:40903037-40903037 19:40397130-40397130 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.329G>A (p.Gly110Asp) SNV Uncertain significance 444810 rs1555937145 X:70443886-70443886 X:71224036-71224036 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1537A>G (p.Ile513Val) SNV Uncertain significance 439899 rs755657087 1:12065809-12065809 1:12005752-12005752 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.699T>G (p.Ile233Met) SNV Uncertain significance 449718 rs201597392 12:57884356-57884356 12:57490573-57490573 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.1456C>G (p.Pro486Ala) SNV Uncertain significance 476778 rs201500946 1:10355147-10355147 1:10295089-10295089 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.2222T>G (p.Leu741Trp) SNV Uncertain significance 476769 rs1553146559 1:12071570-12071570 1:12011513-12011513 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1256G>A (p.Arg419His) SNV Uncertain significance 476822 rs777648901 1:156106103-156106103 1:156136312-156136312 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1118G>A (p.Arg373Gln) SNV Uncertain significance 476765 rs142042485 1:12062118-12062118 1:12002061-12002061 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.574G>T (p.Val192Phe) SNV Uncertain significance 447437 rs771579861 X:70444131-70444131 X:71224281-71224281 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.1019C>T (p.Ser340Leu) SNV Uncertain significance 451061 rs371203080 9:94809516-94809516 9:92047234-92047234 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.533A>G (p.Asp178Gly) SNV Uncertain significance 447434 rs1555937224 X:70444090-70444090 X:71224240-71224240 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.271G>C (p.Val91Leu) SNV Uncertain significance 447429 rs756928158 X:70443828-70443828 X:71223978-71223978 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys) SNV Uncertain significance 447371 rs370057212 7:30655651-30655651 7:30616035-30616035 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SCN11A NM_001349253.2(SCN11A):c.1744G>A (p.Ala582Thr) SNV Uncertain significance 541582 rs141228634 3:38945454-38945454 3:38903963-38903963 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.830C>T (p.Thr277Met) SNV Uncertain significance 543415 rs757969875 5:148418029-148418029 5:149038466-149038466 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.172G>T (p.Val58Phe) SNV Uncertain significance 531691 rs1341175303 1:161277110-161277110 1:161307320-161307320 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.428C>T (p.Thr143Met) SNV Uncertain significance 531684 rs750724650 1:161276518-161276518 1:161306728-161306728 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_001127660.1(MFN2):c.1306_1308GAG[1] (p.Glu437del) short repeat Uncertain significance 543200 rs766213721 1:12064584-12064586 1:12004527-12004529 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.3686C>G (p.Thr1229Arg) SNV Uncertain significance 543204 rs749610931 1:10407845-10407845 1:10347787-10347787 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.395C>T (p.Pro132Leu) SNV Uncertain significance 520859 rs779371027 12:110246265-110246265 12:109808460-109808460 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.637A>G (p.Ile213Val) SNV Uncertain significance 521767 rs753503984 X:70444194-70444194 X:71224344-71224344 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.848A>G (p.Asn283Ser) SNV Uncertain significance 519439 rs765241364 1:156105015-156105015 1:156135224-156135224 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1724G>A (p.Arg575His) SNV Uncertain significance 521359 rs564375950 1:12066602-12066602 1:12006545-12006545 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.572_584del (p.Leu191fs) deletion Uncertain significance 503828 rs771457306 7:75933444-75933456 7:76304127-76304139 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.87G>C (p.Gln29His) SNV Uncertain significance 500597 rs751336040 11:10215503-10215503 11:10193956-10193956 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.712C>T (p.Arg238Cys) SNV Uncertain significance 477603 rs200774406 X:70444269-70444269 X:71224419-71224419 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.565G>A (p.Val189Ile) SNV Uncertain significance 477602 rs770116247 X:70444122-70444122 X:71224272-71224272 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2398G>A (p.Gly800Ser) SNV Uncertain significance 466590 rs751122806 11:68704346-68704346 11:68936878-68936878 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.5(MTMR2):c.894A>T (p.Glu298Asp) SNV Uncertain significance 476877 rs200898934 11:95582937-95582937 11:95849773-95849773 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.137C>T (p.Ser46Phe) SNV Uncertain significance 469035 rs202066574 12:110252465-110252465 12:109814660-109814660 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.5410A>G (p.Met1804Val) SNV Uncertain significance 476938 rs755264093 11:9803095-9803095 11:9781548-9781548 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.2116C>T (p.Arg706Cys) SNV Uncertain significance 475419 rs148501787 12:57908753-57908753 12:57514970-57514970 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*4538A>G SNV Uncertain significance 476975 rs368067072 19:40899926-40899926 19:40394019-40394019 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AARS1 NM_001605.2(AARS1):c.958C>T (p.Arg320Cys) SNV Uncertain significance 476745 rs138490305 16:70303525-70303525 16:70269622-70269622 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*707C>T SNV Uncertain significance 476976 rs374193988 19:40903757-40903757 19:40397850-40397850 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*4343C>T SNV Uncertain significance 476971 rs771840476 19:40900121-40900121 19:40394214-40394214 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*2669G>A SNV Uncertain significance 476958 rs772009400 19:40901795-40901795 19:40395888-40395888 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*1053T>G SNV Uncertain significance 476983 rs776556523 19:40903411-40903411 19:40397504-40397504 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.4G>C (p.Val2Leu) SNV Uncertain significance 476805 rs780512266 19:50321602-50321602 19:49818345-49818345 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.107G>A (p.Arg36His) SNV Uncertain significance 476796 rs1555800954 19:50321705-50321705 19:49818448-49818448 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.475G>A (p.Gly159Ser) SNV Uncertain significance 477598 rs1555937194 X:70444032-70444032 X:71224182-71224182 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.1677G>C (p.Met559Ile) SNV Uncertain significance 476802 rs369006637 19:50338793-50338793 19:49835536-49835536 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*3395C>T SNV Uncertain significance 476963 rs937051533 19:40901069-40901069 19:40395162-40395162 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*3204C>T SNV Uncertain significance 476962 rs765924621 19:40901260-40901260 19:40395353-40395353 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.2460-8A>G SNV Uncertain significance 476860 rs201965891 6:110117960-110117960 6:109796757-109796757 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SCN11A NM_001349253.2(SCN11A):c.4604A>G (p.Lys1535Arg) SNV Uncertain significance 474730 rs1553630322 3:38888957-38888957 3:38847466-38847466 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SCN11A NM_001349253.2(SCN11A):c.5067C>G (p.Phe1689Leu) SNV Uncertain significance 474743 rs201107889 3:38888494-38888494 3:38847003-38847003 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.2528G>T (p.Gly843Val) SNV Uncertain significance 476899 rs1463859150 5:148406767-148406767 5:149027204-149027204 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.2273C>A (p.Ala758Asp) SNV Uncertain significance 476895 rs200006756 5:148407022-148407022 5:149027459-149027459 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.2582G>A (p.Arg861Gln) SNV Uncertain significance 476901 rs142971473 5:148406713-148406713 5:149027150-149027150 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.2492G>A (p.Ser831Asn) SNV Uncertain significance 476898 rs375034766 5:148406803-148406803 5:149027240-149027240 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.680G>A (p.Arg227Gln) SNV Uncertain significance 476910 rs1257812868 5:148421030-148421030 5:149041467-149041467 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.2695C>T (p.Arg899Ter) SNV Uncertain significance 476864 rs750069994 6:110146439-110146439 6:109825236-109825236 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.372C>G (p.His124Gln) SNV Uncertain significance 465273 rs145243219 7:75933126-75933126 7:76303809-76303809 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.1619G>T (p.Ser540Ile) SNV Uncertain significance 472793 rs1400819662 9:130257618-130257618 9:127495339-127495339 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.3(NDRG1):c.703C>T (p.Arg235Cys) SNV Uncertain significance 476848 rs772268356 8:134261010-134261010 8:133248767-133248767 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.1067G>A (p.Arg356Gln) SNV Uncertain significance 476911 rs188588431 11:10014637-10014637 11:9993090-9993090 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.1091G>C (p.Arg364Thr) SNV Uncertain significance 579349 rs755934741 12:32760988-32760988 12:32608054-32608054 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1111G>A (p.Val371Met) SNV Uncertain significance 572765 rs770912338 11:68696701-68696701 11:68929233-68929233 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.4805A>G (p.Lys1602Arg) SNV Uncertain significance 566427 rs147772705 11:9810783-9810783 11:9789236-9789236 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AARS1 NM_001605.2(AARS1):c.1409T>A (p.Ile470Asn) SNV Uncertain significance 581312 rs1567605658 16:70298944-70298944 16:70265041-70265041 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AARS1 NM_001605.2(AARS1):c.783C>G (p.Asp261Glu) SNV Uncertain significance 576647 rs1374950172 16:70304132-70304132 16:70270229-70270229 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.281_283del (p.Phe94del) deletion Uncertain significance 575102 rs1424434006 19:40904625-40904627 19:40398718-40398720 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.476G>C (p.Arg159Pro) SNV Uncertain significance 580036 rs773478255 17:15134241-15134241 17:15230924-15230924 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.83G>A (p.Arg28His) SNV Uncertain significance 578355 rs892885630 11:68671503-68671503 11:68904035-68904035 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.277G>A (p.Asp93Asn) SNV Uncertain significance 566764 rs200897747 11:68675633-68675633 11:68908165-68908165 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.746G>A (p.Arg249His) SNV Uncertain significance 576477 rs771294425 12:110238530-110238530 12:109800725-109800725 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.3887C>T (p.Ser1296Leu) SNV Uncertain significance 570866 rs767811228 11:9838478-9838478 11:9816931-9816931 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.184G>A (p.Asp62Asn) SNV Uncertain significance 575960 rs770149544 12:110252418-110252418 12:109814613-109814613 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1181G>A (p.Arg394His) SNV Uncertain significance 568120 rs538243357 1:12064069-12064069 1:12004012-12004012 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.908-3_908-2del short repeat Uncertain significance 568032 rs766739944 19:50333946-50333947 19:49830689-49830690 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNM2 NM_004945.3(DNM2):c.1652_1659+1del deletion Uncertain significance 568603 rs1568314339 19:10923043-10923051 19:10812367-10812375 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*3114G>A SNV Uncertain significance 573889 rs764162630 19:40901350-40901350 19:40395443-40395443 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*2498G>T SNV Uncertain significance 568278 rs541455813 19:40901966-40901966 19:40396059-40396059 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DST NM_015548.5(DST):c.3319-2694A>G SNV Uncertain significance 570538 rs373440035 6:56481976-56481976 6:56617178-56617178 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.5483G>A (p.Cys1828Tyr) SNV Uncertain significance 571350 rs146064484 11:9802032-9802032 11:9780485-9780485 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*3927G>A SNV Uncertain significance 586381 rs139120811 19:40900537-40900537 19:40394630-40394630 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.656G>A (p.Arg219His) SNV Uncertain significance 566117 rs199834862 X:70444213-70444213 X:71224363-71224363 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.332T>C (p.Met111Thr) SNV Uncertain significance 576212 rs759808649 17:15134385-15134385 17:15231068-15231068 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.524del (p.Gln175fs) deletion Uncertain significance 631961 rs1561770179 5:148422262-148422262 5:149042699-149042699 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.708G>A (p.Thr236=) SNV Uncertain significance 631564 rs1557524867 1:12058935-12058935 1:11998878-11998878 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3611A>G (p.Lys1204Arg) SNV Uncertain significance 624068 rs143436632 5:148386508-148386508 5:149006945-149006945 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.2257C>T (p.Arg753Trp) SNV Uncertain significance 624071 rs530824367 5:148407038-148407038 5:149027475-149027475 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.467G>T (p.Ser156Ile) SNV Uncertain significance 585713 rs1557521949 1:12056368-12056368 1:11996311-11996311 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.281G>C (p.Arg94Pro) SNV Uncertain significance 637285 1:12052717-12052717 1:11992660-11992660 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.306dup (p.Gly103fs) duplication Uncertain significance 637751 1:12052735-12052736 1:11992678-11992679 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.311G>A (p.Arg104Gln) SNV Uncertain significance 637289 1:12052747-12052747 1:11992690-11992690 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.314C>G (p.Thr105Arg) SNV Uncertain significance 637719 1:12056215-12056215 1:11996158-11996158 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_001127660.1(MFN2):c.322G>A (p.Gly108Arg) SNV Uncertain significance 637936 1:12056223-12056223 1:11996166-11996166 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.368C>T (p.Pro123Leu) SNV Uncertain significance 637753 1:12056269-12056269 1:11996212-11996212 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.377T>G (p.Ile126Ser) SNV Uncertain significance 637290 1:12056278-12056278 1:11996221-11996221 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.380G>A (p.Gly127Asp) SNV Uncertain significance 637731 1:12056281-12056281 1:11996224-11996224 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.380G>T (p.Gly127Val) SNV Uncertain significance 637295 1:12056281-12056281 1:11996224-11996224 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.383A>G (p.His128Arg) SNV Uncertain significance 637721 1:12056284-12056284 1:11996227-11996227 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.395G>A (p.Cys132Tyr) SNV Uncertain significance 637314 1:12056296-12056296 1:11996239-11996239 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.408= (p.Val136=) undetermined variant Uncertain significance 637931 1:12056309-12056309 1:11996252-11996252 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_001127660.1(MFN2):c.477_478TG[1] (p.Val160fs) short repeat Uncertain significance 637312 1:12057356-12057357 1:11997299-11997300 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.494A>T (p.His165Leu) SNV Uncertain significance 637309 1:12057373-12057373 1:11997316-11997316 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.496G>A (p.Ala166Thr) SNV Uncertain significance 637307 1:12057375-12057375 1:11997318-11997318 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.500T>C (p.Leu167Pro) SNV Uncertain significance 637291 1:12057379-12057379 1:11997322-11997322 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.605G>C (p.Gly202Ala) SNV Uncertain significance 637745 1:12058832-12058832 1:11998775-11998775 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.609T>G (p.Ile203Met) SNV Uncertain significance 637726 1:12058836-12058836 1:11998779-11998779 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.612T>A (p.Asp204Glu) SNV Uncertain significance 637739 1:12058839-12058839 1:11998782-11998782 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.640G>A (p.Asp214Asn) SNV Uncertain significance 637738 1:12058867-12058867 1:11998810-11998810 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.669T>A (p.Phe223Leu) SNV Uncertain significance 637299 1:12058896-12058896 1:11998839-11998839 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.677_688del (p.Val226_Ser229del) deletion Uncertain significance 637940 1:12058903-12058914 1:11998846-11998857 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.692C>T (p.Ser231Phe) SNV Uncertain significance 637741 1:12058919-12058919 1:11998862-11998862 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.694A>G (p.Thr232Ala) SNV Uncertain significance 637752 1:12058921-12058921 1:11998864-11998864 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.695C>A (p.Thr232Asn) SNV Uncertain significance 637746 1:12058922-12058922 1:11998865-11998865 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.697C>G (p.Leu233Val) SNV Uncertain significance 637303 1:12058924-12058924 1:11998867-11998867 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.718T>A (p.Phe240Ile) SNV Uncertain significance 637280 1:12059054-12059054 1:11998997-11998997 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.742C>G (p.Leu248Val) SNV Uncertain significance 637496 1:12059078-12059078 1:11999021-11999021 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.752C>T (p.Pro251Leu) SNV Uncertain significance 637945 1:12059088-12059088 1:11999031-11999031 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.756C>A (p.Asn252Lys) SNV Uncertain significance 637727 1:12059092-12059092 1:11999035-11999035 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.1673C>A (p.Pro558His) SNV Uncertain significance 542172 rs771808261 12:57906056-57906056 12:57512273-57512273 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.2294C>T (p.Ala765Val) SNV Uncertain significance 542173 rs559255944 12:57909022-57909022 12:57515239-57515239 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AARS1 NM_001605.2(AARS1):c.1811A>G (p.Asn604Ser) SNV Uncertain significance 543167 rs371595630 16:70293064-70293064 16:70259161-70259161 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*1044C>T SNV Uncertain significance 543387 rs557355077 19:40903420-40903420 19:40397513-40397513 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*1919G>A SNV Uncertain significance 543409 rs370979792 19:40902545-40902545 19:40396638-40396638 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.1573T>C (p.Cys525Arg) SNV Uncertain significance 543413 rs746860317 11:9989915-9989915 11:9968368-9968368 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1198G>A (p.Asp400Asn) SNV Uncertain significance 534932 rs779654686 11:68696788-68696788 11:68929320-68929320 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.5(MTMR2):c.604C>G (p.Pro202Ala) SNV Uncertain significance 543380 rs186380748 11:95590766-95590766 11:95857602-95857602 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.1337G>A (p.Arg446His) SNV Uncertain significance 536865 rs143502097 12:110232288-110232288 12:109794483-109794483 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.167G>A (p.Arg56His) SNV Uncertain significance 536855 rs767169716 12:110252435-110252435 12:109814630-109814630 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.734A>G (p.Asn245Ser) SNV Uncertain significance 534925 rs1555243999 11:68682313-68682313 11:68914845-68914845 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.392C>T (p.Thr131Ile) SNV Uncertain significance 540007 rs772202137 9:130223522-130223522 9:127461243-127461243 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.985C>T (p.Arg329Ter) SNV Uncertain significance 526711 rs1215612827 9:94809550-94809550 9:92047268-92047268 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.929C>G (p.Ala310Gly) SNV Uncertain significance 526710 rs768841574 9:94809950-94809950 9:92047668-92047668 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.3(NDRG1):c.1109C>G (p.Ala370Gly) SNV Uncertain significance 543418 rs367925853 8:134251197-134251197 8:133238954-133238954 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.3(NDRG1):c.686A>G (p.Asn229Ser) SNV Uncertain significance 543370 rs137993172 8:134262695-134262695 8:133250452-133250452 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.3(NDRG1):c.1109C>T (p.Ala370Val) SNV Uncertain significance 543428 rs367925853 8:134251197-134251197 8:133238954-133238954 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.4(NEFL):c.1462G>A (p.Glu488Lys) SNV Uncertain significance 533511 rs773570365 8:24811016-24811016 8:24953503-24953503 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.491C>T (p.Ala164Val) SNV Uncertain significance 549490 rs1553142699 1:12057370-12057370 1:11997313-11997313 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.299C>G (p.Ala100Gly) SNV Uncertain significance 546588 rs1553141707 1:12052735-12052735 1:11992678-11992678 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.3866G>A (p.Arg1289Gln) SNV Uncertain significance 546658 rs757836523 11:9838499-9838499 11:9816952-9816952 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*3024G>A SNV Uncertain significance 543314 rs1322545345 19:40901440-40901440 19:40395533-40395533 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.559A>G (p.Lys187Glu) SNV Uncertain significance 543925 rs1555937244 X:70444116-70444116 X:71224266-71224266 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.658C>G (p.Arg220Gly) SNV Uncertain significance 543923 rs104894814 X:70444215-70444215 X:71224365-71224365 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*4512G>A SNV Uncertain significance 543355 rs368827070 19:40899952-40899952 19:40394045-40394045 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*4506G>A SNV Uncertain significance 543420 rs759435622 19:40899958-40899958 19:40394051-40394051 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.661T>C (p.Ser221Pro) SNV Uncertain significance 579613 rs747024391 5:148421049-148421049 5:149041486-149041486 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1768G>A (p.Ala590Thr) SNV Uncertain significance 565871 rs149244124 5:148407527-148407527 5:149027964-149027964 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1318C>T (p.Arg440Cys) SNV Uncertain significance 583032 rs768012192 5:148407977-148407977 5:149028414-149028414 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.385+3A>G SNV Uncertain significance 568124 rs184593694 5:148424093-148424093 5:149044530-149044530 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.279+4A>G SNV Uncertain significance 572945 rs371909418 5:148427421-148427421 5:149047858-149047858 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNAJB2 NM_006736.6(DNAJB2):c.493C>T (p.Arg165Cys) SNV Uncertain significance 573941 rs544935330 2:220147902-220147902 2:219283180-219283180 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TFG NM_006070.6(TFG):c.826T>C (p.Tyr276His) SNV Uncertain significance 576156 rs1559726842 3:100466998-100466998 3:100748154-100748154 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.364G>A (p.Gly122Ser) SNV Uncertain significance 581650 rs780988351 7:75932393-75932393 7:76303076-76303076 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.1837G>A (p.Val613Ile) SNV Uncertain significance 571041 rs746831085 9:130259538-130259538 9:127497259-127497259 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SCN11A NM_001349253.2(SCN11A):c.2095G>A (p.Gly699Arg) SNV Uncertain significance 582088 rs145734191 3:38938644-38938644 3:38897153-38897153 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.845G>A (p.Arg282His) SNV Uncertain significance 574996 rs375431837 8:75276370-75276370 8:74364135-74364135 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.1385C>A (p.Ser462Tyr) SNV Uncertain significance 582614 rs150792865 9:94794784-94794784 9:92032502-92032502 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.271G>A (p.Glu91Lys) SNV Uncertain significance 580756 rs1383238492 1:161276675-161276675 1:161306885-161306885 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.547T>C (p.Trp183Arg) SNV Uncertain significance 581905 rs753107323 1:161276156-161276156 1:161306366-161306366 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1271A>G (p.Glu424Gly) SNV Uncertain significance 571365 rs1557530247 1:12064159-12064159 1:12004102-12004102 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.2129T>C (p.Leu710Pro) SNV Uncertain significance 575589 rs1557537223 1:12069708-12069708 1:12009651-12009651 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1127T>G (p.Met376Arg) SNV Uncertain significance 637292 1:12062127-12062127 1:12002070-12002070 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1132T>C (p.Ser378Pro) SNV Uncertain significance 637717 1:12062132-12062132 1:12002075-12002075 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1134_1142del (p.Leu379_Met381del) deletion Uncertain significance 637435 1:12062134-12062142 1:12002077-12002085 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1157_1158inv (p.Gln386Pro) inversion Uncertain significance 637310 1:12062157-12062158 1:12002100-12002101 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1168T>C (p.Cys390Arg) SNV Uncertain significance 637935 1:12064056-12064056 1:12003999-12003999 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1169G>T (p.Cys390Phe) SNV Uncertain significance 637297 1:12064057-12064057 1:12004000-12004000 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1199G>C (p.Arg400Pro) SNV Uncertain significance 637281 1:12064087-12064087 1:12004030-12004030 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1453G>A (p.Ala485Thr) SNV Uncertain significance 637720 1:12064942-12064942 1:12004885-12004885 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1487A>G (p.Asp496Gly) SNV Uncertain significance 637747 1:12064976-12064976 1:12004919-12004919 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1556G>C (p.Arg519Pro) SNV Uncertain significance 637743 1:12065828-12065828 1:12005771-12005771 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1709A>G (p.Asn570Ser) SNV Uncertain significance 637934 1:12065981-12065981 1:12005924-12005924 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1772_1773del (p.Gln591fs) deletion Uncertain significance 637734 1:12066650-12066651 1:12006593-12006594 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1835C>A (p.Ser612Tyr) SNV Uncertain significance 637293 1:12066713-12066713 1:12006656-12006656 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1910C>T (p.Ser637Phe) SNV Uncertain significance 637714 1:12067147-12067147 1:12007090-12007090 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1921T>C (p.Tyr641His) SNV Uncertain significance 637740 1:12067158-12067158 1:12007101-12007101 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1984A>G (p.Lys662Glu) SNV Uncertain significance 637715 1:12067221-12067221 1:12007164-12007164 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1994T>C (p.Phe665Ser) SNV Uncertain significance 637061 1:12067231-12067231 1:12007174-12007174 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.2018T>C (p.Leu673Pro) SNV Uncertain significance 637748 1:12067255-12067255 1:12007198-12007198 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MYH14 NM_001145809.2(MYH14):c.3514C>T (p.Arg1172Trp) SNV Uncertain significance 636304 19:50779294-50779294 19:50276037-50276037 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NGF NM_002506.2(NGF):c.681_682del (p.Ala228fs) deletion Uncertain significance 637471 1:115828735-115828736 1:115286114-115286115 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NGF NM_002506.2(NGF):c.680C>A (p.Thr227Lys) SNV Uncertain significance 637470 1:115828737-115828737 1:115286116-115286116 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NGF NM_002506.2(NGF):c.560G>A (p.Ser187Asn) SNV Uncertain significance 637364 1:115828857-115828857 1:115286236-115286236 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.30dup (p.Ile11fs) duplication Uncertain significance 637294 1:12049254-12049255 1:11989197-11989198 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.61A>G (p.Met21Val) SNV Uncertain significance 637306 1:12049286-12049286 1:11989229-11989229 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.134A>G (p.Gln45Arg) SNV Uncertain significance 637287 1:12049359-12049359 1:11989302-11989302 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.193G>T (p.Glu65Ter) SNV Uncertain significance 637749 1:12052629-12052629 1:11992572-11992572 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.787T>C (p.Ser263Pro) SNV Uncertain significance 637732 1:12059123-12059123 1:11999066-11999066 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.821G>A (p.Arg274Gln) SNV Uncertain significance 637300 1:12061462-12061462 1:12001405-12001405 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.828G>C (p.Gln276His) SNV Uncertain significance 637728 1:12061469-12061469 1:12001412-12001412 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.829C>T (p.His277Tyr) SNV Uncertain significance 637722 1:12061470-12061470 1:12001413-12001413 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.851T>A (p.Phe284Tyr) SNV Uncertain significance 637301 1:12061492-12061492 1:12001435-12001435 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.864G>C (p.Glu288Asp) SNV Uncertain significance 637284 1:12061505-12061505 1:12001448-12001448 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.922G>T (p.Glu308Ter) SNV Uncertain significance 637744 1:12061563-12061563 1:12001506-12001506 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.986_988del (p.Glu329del) deletion Uncertain significance 637286 1:12061839-12061841 1:12001782-12001784 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1040A>T (p.Glu347Val) SNV Uncertain significance 637296 1:12062040-12062040 1:12001983-12001983 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1048T>C (p.Ser350Pro) SNV Uncertain significance 637729 1:12062048-12062048 1:12001991-12001991 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1066A>G (p.Thr356Ala) SNV Uncertain significance 637313 1:12062066-12062066 1:12002009-12002009 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1081C>T (p.His361Tyr) SNV Uncertain significance 637315 1:12062081-12062081 1:12002024-12002024 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1126A>C (p.Met376Leu) SNV Uncertain significance 637737 1:12062126-12062126 1:12002069-12002069 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.239G>T (p.Gly80Val) SNV Uncertain significance 637288 1:12052675-12052675 1:11992618-11992618 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.250A>G (p.Lys84Glu) SNV Uncertain significance 637742 1:12052686-12052686 1:11992629-11992629 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.1835C>T (p.Thr612Ile) SNV Uncertain significance 634606 rs780595685 6:110098209-110098209 6:109777006-109777006 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NTRK1 NM_002529.3(NTRK1):c.2308C>T (p.Gln770Ter) SNV Uncertain significance 637367 1:156851351-156851351 1:156881559-156881559 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NTRK1 NM_001007792.1(NTRK1):c.2220dup (p.Val741fs) duplication Uncertain significance 637431 1:156851370-156851371 1:156881578-156881579 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NTRK1 NM_002529.3(NTRK1):c.2344C>T (p.Gln782Ter) SNV Uncertain significance 637816 1:156851387-156851387 1:156881595-156881595 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.742A>T (p.Lys248Ter) SNV Uncertain significance 637339 1:161275671-161275671 1:161305881-161305881 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.736G>A (p.Asp246Asn) SNV Uncertain significance 637929 1:161275677-161275677 1:161305887-161305887 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.706A>G (p.Lys236Glu) SNV Uncertain significance 637766 1:161275707-161275707 1:161305917-161305917 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NTRK1 NM_002529.3(NTRK1):c.722dup (p.Gly242fs) duplication Uncertain significance 637894 1:156841418-156841419 1:156871626-156871627 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NTRK1 NM_002529.3(NTRK1):c.924_930del (p.Gln308fs) deletion Uncertain significance 637912 1:156843494-156843500 1:156873702-156873708 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NTRK1 NM_002529.3(NTRK1):c.1162G>A (p.Glu388Lys) SNV Uncertain significance 637486 1:156843736-156843736 1:156873944-156873944 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NTRK1 NM_002529.3(NTRK1):c.1551_1552insACATCGGG (p.Glu518fs) insertion Uncertain significance 637436 1:156845918-156845919 1:156876126-156876127 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NTRK1 NM_002529.3(NTRK1):c.1555G>C (p.Gly519Arg) SNV Uncertain significance 637366 1:156845925-156845925 1:156876133-156876133 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NTRK1 NM_002529.3(NTRK1):c.1564G>A (p.Gly522Arg) SNV Uncertain significance 637428 1:156845934-156845934 1:156876142-156876142 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NTRK1 NM_002529.3(NTRK1):c.1690C>T (p.Leu564Phe) SNV Uncertain significance 637469 1:156846249-156846249 1:156876457-156876457 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NTRK1 NM_002529.3(NTRK1):c.1733T>G (p.Val578Gly) SNV Uncertain significance 637437 1:156846292-156846292 1:156876500-156876500 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NTRK1 NM_002529.3(NTRK1):c.1754del (p.Leu585fs) deletion Uncertain significance 637429 1:156846313-156846313 1:156876521-156876521 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NTRK1 NM_002529.3(NTRK1):c.1867G>T (p.Gly623Cys) SNV Uncertain significance 637476 1:156848975-156848975 1:156879183-156879183 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NTRK1 NM_002529.3(NTRK1):c.1895_1896insA (p.Ser632fs) insertion Uncertain significance 637438 1:156849003-156849004 1:156879211-156879212 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NTRK1 NM_002529.3(NTRK1):c.1946G>T (p.Arg649Leu) SNV Uncertain significance 637474 1:156849054-156849054 1:156879262-156879262 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NTRK1 NM_002529.3(NTRK1):c.1960C>T (p.Arg654Cys) SNV Uncertain significance 637430 1:156849068-156849068 1:156879276-156879276 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NTRK1 NM_002529.3(NTRK1):c.2289C>G (p.Cys763Trp) SNV Uncertain significance 637911 1:156851332-156851332 1:156881540-156881540 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.2116A>C (p.Thr706Pro) SNV Uncertain significance 637735 1:12069695-12069695 1:12009638-12009638 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.2120G>C (p.Arg707Pro) SNV Uncertain significance 637750 1:12069699-12069699 1:12009642-12009642 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.2140A>G (p.Ile714Val) SNV Uncertain significance 637282 1:12069719-12069719 1:12009662-12009662 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.2200C>G (p.Leu734Val) SNV Uncertain significance 637062 1:12069779-12069779 1:12009722-12009722 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.2213C>T (p.Ala738Val) SNV Uncertain significance 637283 1:12071561-12071561 1:12011504-12011504 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.2218T>C (p.Trp740Arg) SNV Uncertain significance 637308 1:12071566-12071566 1:12011509-12011509 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.2220G>C (p.Trp740Cys) SNV Uncertain significance 637723 1:12071568-12071568 1:12011511-12011511 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.2229T>A (p.Ser743Arg) SNV Uncertain significance 637716 1:12071577-12071577 1:12011520-12011520 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.2230_2231delinsAT (p.Glu744Met) indel Uncertain significance 637305 1:12071578-12071579 1:12011521-12011522 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.2234T>C (p.Leu745Pro) SNV Uncertain significance 637724 1:12071582-12071582 1:12011525-12011525 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.2240T>C (p.Met747Thr) SNV Uncertain significance 637725 1:12071588-12071588 1:12011531-12011531 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.2249A>C (p.His750Pro) SNV Uncertain significance 637298 1:12071597-12071597 1:12011540-12011540 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.2258dup (p.Gln754fs) duplication Uncertain significance 637433 1:12071605-12071606 1:12011548-12011549 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1928C>A (p.Thr643Asn) SNV Uncertain significance 637938 1:156108508-156108508 1:156138717-156138717 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NTRK1 NM_002529.3(NTRK1):c.496G>T (p.Gly166Ter) SNV Uncertain significance 637369 1:156837963-156837963 1:156868171-156868171 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.431T>C (p.Leu144Pro) SNV Uncertain significance 637328 1:161276515-161276515 1:161306725-161306725 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.428C>G (p.Thr143Arg) SNV Uncertain significance 637761 1:161276518-161276518 1:161306728-161306728 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.421C>T (p.Gln141Ter) SNV Uncertain significance 637361 1:161276525-161276525 1:161306735-161306735 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.416C>A (p.Thr139Asn) SNV Uncertain significance 637333 1:161276530-161276530 1:161306740-161306740 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.414G>C (p.Lys138Asn) SNV Uncertain significance 637332 1:161276532-161276532 1:161306742-161306742 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.410G>T (p.Gly137Val) SNV Uncertain significance 637793 1:161276536-161276536 1:161306746-161306746 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.410G>C (p.Gly137Ala) SNV Uncertain significance 637317 1:161276536-161276536 1:161306746-161306746 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.405A>G (p.Ile135Met) SNV Uncertain significance 637778 1:161276541-161276541 1:161306751-161306751 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.402C>A (p.Asp134Glu) SNV Uncertain significance 637347 1:161276544-161276544 1:161306754-161306754 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.401A>G (p.Asp134Gly) SNV Uncertain significance 637331 1:161276545-161276545 1:161306755-161306755 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.397C>T (p.Pro133Ser) SNV Uncertain significance 637337 1:161276549-161276549 1:161306759-161306759 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.396_397del (p.Pro133fs) deletion Uncertain significance 637795 1:161276549-161276550 1:161306759-161306760 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.395C>T (p.Pro132Leu) SNV Uncertain significance 637355 1:161276551-161276551 1:161306761-161306761 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.394C>A (p.Pro132Thr) SNV Uncertain significance 637760 1:161276552-161276552 1:161306762-161306762 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.392A>G (p.Asn131Ser) SNV Uncertain significance 637784 1:161276554-161276554 1:161306764-161306764 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.391A>T (p.Asn131Tyr) SNV Uncertain significance 637359 1:161276555-161276555 1:161306765-161306765 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.384C>G (p.Asp128Glu) SNV Uncertain significance 637785 1:161276562-161276562 1:161306772-161306772 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.383A>G (p.Asp128Gly) SNV Uncertain significance 637326 1:161276563-161276563 1:161306773-161306773 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.368_382del (p.Gly123_Cys127del) deletion Uncertain significance 637487 1:161276564-161276578 1:161306774-161306788 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.370A>G (p.Thr124Ala) SNV Uncertain significance 637782 1:161276576-161276576 1:161306786-161306786 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.368G>T (p.Gly123Val) SNV Uncertain significance 637790 1:161276578-161276578 1:161306788-161306788 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.367G>T (p.Gly123Cys) SNV Uncertain significance 637358 1:161276579-161276579 1:161306789-161306789 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.365A>G (p.Asn122Ser) SNV Uncertain significance 637754 1:161276581-161276581 1:161306791-161306791 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.352G>A (p.Asp118Asn) SNV Uncertain significance 637765 1:161276594-161276594 1:161306804-161306804 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.342A>G (p.Ile114Met) SNV Uncertain significance 637796 1:161276604-161276604 1:161306814-161306814 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.332C>T (p.Ser111Phe) SNV Uncertain significance 637801 1:161276614-161276614 1:161306824-161306824 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.329G>A (p.Gly110Asp) SNV Uncertain significance 637321 1:161276617-161276617 1:161306827-161306827 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.327T>A (p.Asp109Glu) SNV Uncertain significance 637798 1:161276619-161276619 1:161306829-161306829 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.243C>G (p.His81Gln) SNV Uncertain significance 637768 1:161276703-161276703 1:161306913-161306913 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.554del (p.Arg185fs) deletion Uncertain significance 637756 1:161276149-161276149 1:161306359-161306359 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.553del (p.Arg185fs) deletion Uncertain significance 637342 1:161276150-161276150 1:161306360-161306360 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.550_552delinsG (p.Leu184fs) indel Uncertain significance 637357 1:161276151-161276153 1:161306361-161306363 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.543C>G (p.Tyr181Ter) SNV Uncertain significance 637346 1:161276160-161276160 1:161306370-161306370 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.462C>A (p.Tyr154Ter) SNV Uncertain significance 637345 1:161276241-161276241 1:161306451-161306451 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.437T>G (p.Val146Gly) SNV Uncertain significance 637762 1:161276509-161276509 1:161306719-161306719 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.436G>T (p.Val146Phe) SNV Uncertain significance 637789 1:161276510-161276510 1:161306720-161306720 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.570del (p.Gln191fs) deletion Uncertain significance 637771 1:161276133-161276133 1:161306343-161306343 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.560_566del (p.Gln187fs) deletion Uncertain significance 637779 1:161276137-161276143 1:161306347-161306353 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.275T>G (p.Leu92Arg) SNV Uncertain significance 637736 1:12052711-12052711 1:11992654-11992654 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.679A>T (p.Arg227Ter) SNV Uncertain significance 637791 1:161275734-161275734 1:161305944-161305944 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.679A>G (p.Arg227Gly) SNV Uncertain significance 637802 1:161275734-161275734 1:161305944-161305944 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.645+2dup duplication Uncertain significance 637484 1:161275894-161275895 1:161306104-161306105 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.626_630del (p.Ala209fs) deletion Uncertain significance 637318 1:161275913-161275917 1:161306123-161306127 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.616G>T (p.Gly206Ter) SNV Uncertain significance 637800 1:161275927-161275927 1:161306137-161306137 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.578G>A (p.Arg193Lys) SNV Uncertain significance 637338 1:161276125-161276125 1:161306335-161306335 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.-10_-6dup duplication Uncertain significance 637353 1:161279700-161279701 1:161309910-161309911 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy ARF1 NM_001658.4(ARF1):c.293A>C (p.Glu98Ala) SNV Uncertain significance 637362 1:228285325-228285325 1:228097624-228097624 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy ARF1 NM_001658.4(ARF1):c.293A>G (p.Glu98Gly) SNV Uncertain significance 637363 1:228285325-228285325 1:228097624-228097624 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SCN9A NM_001365536.1(SCN9A):c.4629G>A (p.Met1543Ile) SNV Uncertain significance 637861 2:167060610-167060610 2:166204100-166204100 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DCTN1 NM_004082.4(DCTN1):c.2009A>T (p.Tyr670Phe) SNV Uncertain significance 637070 2:74595104-74595104 2:74367977-74367977 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DCTN1 NM_004082.4(DCTN1):c.1270G>C (p.Asp424His) SNV Uncertain significance 637069 2:74597330-74597330 2:74370203-74370203 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy REEP1 NM_001371279.1(REEP1):c.103T>A (p.Tyr35Asn) SNV Uncertain significance 637850 2:86509295-86509295 2:86282172-86282172 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy RAB7A NM_004637.5(RAB7A):c.482A>T (p.Asn161Ile) SNV Uncertain significance 637404 3:128526468-128526468 3:128807625-128807625 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SCN11A NM_001349253.2(SCN11A):c.2524G>C (p.Ala842Pro) SNV Uncertain significance 637859 3:38936335-38936335 3:38894844-38894844 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SCN11A NM_001349253.2(SCN11A):c.2042C>A (p.Ala681Asp) SNV Uncertain significance 637858 3:38938697-38938697 3:38897206-38897206 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3233_3234delAG short repeat Uncertain significance 637868 5:148389926-148389927 5:149010363-149010364 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.136G>A (p.Val46Met) SNV Uncertain significance 637927 1:161277146-161277146 1:161307356-161307356 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.131C>G (p.Ser44Cys) SNV Uncertain significance 637348 1:161277151-161277151 1:161307361-161307361 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.128G>T (p.Gly43Val) SNV Uncertain significance 637334 1:161277154-161277154 1:161307364-161307364 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.101C>T (p.Thr34Ile) SNV Uncertain significance 637323 1:161277181-161277181 1:161307391-161307391 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.98A>T (p.Tyr33Phe) SNV Uncertain significance 637341 1:161277184-161277184 1:161307394-161307394 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.94G>T (p.Val32Phe) SNV Uncertain significance 637434 1:161277188-161277188 1:161307398-161307398 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.89T>G (p.Ile30Ser) SNV Uncertain significance 637340 1:161277193-161277193 1:161307403-161307403 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.59C>T (p.Ser20Phe) SNV Uncertain significance 637322 1:161279637-161279637 1:161309847-161309847 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.194C>T (p.Thr65Ile) SNV Uncertain significance 637788 1:161277088-161277088 1:161307298-161307298 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.194C>A (p.Thr65Asn) SNV Uncertain significance 637928 1:161277088-161277088 1:161307298-161307298 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.173T>A (p.Val58Asp) SNV Uncertain significance 637777 1:161277109-161277109 1:161307319-161307319 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.166G>A (p.Glu56Lys) SNV Uncertain significance 637772 1:161277116-161277116 1:161307326-161307326 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.161C>G (p.Ser54Cys) SNV Uncertain significance 637324 1:161277121-161277121 1:161307331-161307331 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.160T>C (p.Ser54Pro) SNV Uncertain significance 637319 1:161277122-161277122 1:161307332-161307332 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.149_151del (p.Cys50del) deletion Uncertain significance 637351 1:161277131-161277133 1:161307341-161307343 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.150C>G (p.Cys50Trp) SNV Uncertain significance 637336 1:161277132-161277132 1:161307342-161307342 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.148T>G (p.Cys50Gly) SNV Uncertain significance 637343 1:161277134-161277134 1:161307344-161307344 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.143T>C (p.Leu48Pro) SNV Uncertain significance 637356 1:161277139-161277139 1:161307349-161307349 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.143T>A (p.Leu48Gln) SNV Uncertain significance 637758 1:161277139-161277139 1:161307349-161307349 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.142C>G (p.Leu48Val) SNV Uncertain significance 637335 1:161277140-161277140 1:161307350-161307350 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.290_293del (p.Glu97fs) deletion Uncertain significance 637763 1:161276653-161276656 1:161306863-161306866 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.292C>A (p.Arg98Ser) SNV Uncertain significance 637360 1:161276654-161276654 1:161306864-161306864 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.278G>C (p.Gly93Ala) SNV Uncertain significance 637316 1:161276668-161276668 1:161306878-161306878 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.245A>C (p.Tyr82Ser) SNV Uncertain significance 637783 1:161276701-161276701 1:161306911-161306911 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.242A>T (p.His81Leu) SNV Uncertain significance 637780 1:161276704-161276704 1:161306914-161306914 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.227C>T (p.Ala76Val) SNV Uncertain significance 637344 1:161277055-161277055 1:161307265-161307265 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.223del (p.Asp75fs) deletion Uncertain significance 637786 1:161277059-161277059 1:161307269-161307269 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.211G>T (p.Glu71Ter) SNV Uncertain significance 637773 1:161277071-161277071 1:161307281-161307281 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.209C>T (p.Pro70Leu) SNV Uncertain significance 637787 1:161277073-161277073 1:161307283-161307283 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.208C>T (p.Pro70Ser) SNV Uncertain significance 637776 1:161277074-161277074 1:161307284-161307284 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.145G>T (p.Glu49Ter) SNV Uncertain significance 637399 19:40909652-40909652 19:40403745-40403745 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.70T>C (p.Trp24Arg) SNV Uncertain significance 637226 X:70443627-70443627 X:71223777-71223777 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.72G>T (p.Trp24Cys) SNV Uncertain significance 637189 X:70443629-70443629 X:71223779-71223779 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*1844C>T SNV Uncertain significance 637482 19:40902620-40902620 19:40396713-40396713 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*1132T>G SNV Uncertain significance 637494 19:40903332-40903332 19:40397425-40397425 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*1129A>T SNV Uncertain significance 637493 19:40903335-40903335 19:40397428-40397428 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*1120_*1128dup duplication Uncertain significance 637492 19:40903335-40903336 19:40397428-40397429 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*1080_*1111del deletion Uncertain significance 637491 19:40903353-40903384 19:40397446-40397477 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*978_*979dup duplication Uncertain significance 637397 19:40903484-40903485 19:40397577-40397578 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.730del (p.Ala244fs) deletion Uncertain significance 637847 19:40903529-40903529 19:40397622-40397622 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.642dup (p.Arg215fs) duplication Uncertain significance 637943 19:40903616-40903617 19:40397709-40397710 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*794G>T SNV Uncertain significance 637403 19:40903670-40903670 19:40397763-40397763 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.31A>G (p.Ser11Gly) SNV Uncertain significance 637204 X:70443588-70443588 X:71223738-71223738 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.37G>A (p.Val13Met) SNV Uncertain significance 637129 X:70443594-70443594 X:71223744-71223744 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.41A>G (p.Asn14Ser) SNV Uncertain significance 637679 X:70443598-70443598 X:71223748-71223748 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.43del (p.Arg15fs) deletion Uncertain significance 637680 X:70443599-70443599 X:71223749-71223749 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.42_43insT (p.Arg15fs) insertion Uncertain significance 637607 X:70443599-70443600 X:71223749-71223750 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.44_45delinsTT (p.Arg15Leu) indel Uncertain significance 637673 X:70443601-70443602 X:71223751-71223752 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.47A>C (p.His16Pro) SNV Uncertain significance 637130 X:70443604-70443604 X:71223754-71223754 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.47A>T (p.His16Leu) SNV Uncertain significance 637615 X:70443604-70443604 X:71223754-71223754 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.48T>G (p.His16Gln) SNV Uncertain significance 637613 X:70443605-70443605 X:71223755-71223755 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.50C>A (p.Ser17Tyr) SNV Uncertain significance 637146 X:70443607-70443607 X:71223757-71223757 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.59T>A (p.Ile20Asn) SNV Uncertain significance 637920 X:70443616-70443616 X:71223766-71223766 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.59T>G (p.Ile20Ser) SNV Uncertain significance 637131 X:70443616-70443616 X:71223766-71223766 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.61G>A (p.Gly21Ser) SNV Uncertain significance 637921 X:70443618-70443618 X:71223768-71223768 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.62del (p.Gly21fs) deletion Uncertain significance 637232 X:70443618-70443618 X:71223768-71223768 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.62G>A (p.Gly21Asp) SNV Uncertain significance 637132 X:70443619-70443619 X:71223769-71223769 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.62G>T (p.Gly21Val) SNV Uncertain significance 637225 X:70443619-70443619 X:71223769-71223769 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.64C>G (p.Arg22Gly) SNV Uncertain significance 637665 X:70443621-70443621 X:71223771-71223771 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.65G>C (p.Arg22Pro) SNV Uncertain significance 637666 X:70443622-70443622 X:71223772-71223772 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.3099del (p.Glu1034fs) deletion Uncertain significance 637394 19:40901160-40901160 19:40395253-40395253 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*2949A>T SNV Uncertain significance 637849 19:40901515-40901515 19:40395608-40395608 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*2756_*2757TC[1] short repeat Uncertain significance 637401 19:40901703-40901706 19:40395796-40395799 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.2421del (p.Lys808fs) deletion Uncertain significance 637396 19:40901838-40901838 19:40395931-40395931 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*2249G>T SNV Uncertain significance 637395 19:40902215-40902215 19:40396308-40396308 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.318del (p.Gly107fs) deletion Uncertain significance 637826 17:15142789-15142789 17:15239472-15239472 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.314T>G (p.Leu105Arg) SNV Uncertain significance 637385 17:15142793-15142793 17:15239476-15239476 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.312del (p.Ala106fs) deletion Uncertain significance 637388 17:15142795-15142795 17:15239478-15239478 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.297del (p.Gly100fs) deletion Uncertain significance 637379 17:15142810-15142810 17:15239493-15239493 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.289del (p.Tyr97fs) deletion Uncertain significance 637846 17:15142818-15142818 17:15239501-15239501 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.277G>C (p.Gly93Arg) SNV Uncertain significance 637390 17:15142830-15142830 17:15239513-15239513 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.53T>G (p.Leu18Arg) SNV Uncertain significance 637373 17:15163992-15163992 17:15260675-15260675 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.11del (p.Leu4fs) deletion Uncertain significance 637380 17:15164034-15164034 17:15260717-15260717 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNMT1 NM_001130823.3(DNMT1):c.1706A>G (p.His569Arg) SNV Uncertain significance 637076 19:10265388-10265388 19:10154712-10154712 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNMT1 NM_001130823.3(DNMT1):c.1559_1561AGA[1] (p.Lys521del) short repeat Uncertain significance 637075 19:10265661-10265663 19:10154985-10154987 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNMT1 NM_001130823.3(DNMT1):c.1520C>G (p.Pro507Arg) SNV Uncertain significance 637074 19:10265705-10265705 19:10155029-10155029 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNM2 NM_004945.3(DNM2):c.1663_1665del (p.Lys555del) deletion Uncertain significance 637071 19:10930659-10930661 19:10819983-10819985 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNM2 NM_004945.3(DNM2):c.1669_1671AAG[1] (p.Lys558del) short repeat Uncertain significance 637073 19:10930663-10930665 19:10819987-10819989 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNM2 NM_001005360.2(DNM2):c.1739T>C (p.Met580Thr) SNV Uncertain significance 637072 19:10930723-10930723 19:10820047-10820047 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*3977_*3978delinsA indel Uncertain significance 637848 19:40900486-40900487 19:40394579-40394580 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.116_117del (p.Lys39fs) deletion Uncertain significance 637400 19:40909680-40909681 19:40403773-40403774 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SOX10 NM_006941.3(SOX10):c.1037C>G (p.Ser346Ter) SNV Uncertain significance 637874 22:38369866-38369866 22:37973859-37973859 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.1A>T (p.Met1Leu) SNV Uncertain significance 637219 X:70443558-70443558 X:71223708-71223708 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.2T>G (p.Met1Arg) SNV Uncertain significance 637588 X:70443559-70443559 X:71223709-71223709 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.3G>T (p.Met1Ile) SNV Uncertain significance 637622 X:70443560-70443560 X:71223710-71223710 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.6C>G (p.Asn2Lys) SNV Uncertain significance 637157 X:70443563-70443563 X:71223713-71223713 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.7T>C (p.Trp3Arg) SNV Uncertain significance 637174 X:70443564-70443564 X:71223714-71223714 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.7T>G (p.Trp3Gly) SNV Uncertain significance 637197 X:70443564-70443564 X:71223714-71223714 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.11C>A (p.Thr4Lys) SNV Uncertain significance 637642 X:70443568-70443568 X:71223718-71223718 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.13G>A (p.Gly5Ser) SNV Uncertain significance 637617 X:70443570-70443570 X:71223720-71223720 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.20A>G (p.Tyr7Cys) SNV Uncertain significance 637220 X:70443577-70443577 X:71223727-71223727 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.22A>C (p.Thr8Pro) SNV Uncertain significance 637599 X:70443579-70443579 X:71223729-71223729 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.23C>T (p.Thr8Ile) SNV Uncertain significance 637160 X:70443580-70443580 X:71223730-71223730 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.26T>G (p.Leu9Trp) SNV Uncertain significance 637214 X:70443583-70443583 X:71223733-71223733 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.27G>T (p.Leu9Phe) SNV Uncertain significance 637145 X:70443584-70443584 X:71223734-71223734 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.74T>C (p.Leu25Pro) SNV Uncertain significance 637648 X:70443631-70443631 X:71223781-71223781 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.77del (p.Ser26fs) deletion Uncertain significance 637619 X:70443634-70443634 X:71223784-71223784 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.77C>A (p.Ser26Ter) SNV Uncertain significance 637205 X:70443634-70443634 X:71223784-71223784 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.80T>C (p.Val27Ala) SNV Uncertain significance 637560 X:70443637-70443637 X:71223787-71223787 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.84del (p.Phe29fs) deletion Uncertain significance 637632 X:70443641-70443641 X:71223791-71223791 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.85T>C (p.Phe29Leu) SNV Uncertain significance 637427 X:70443642-70443642 X:71223792-71223792 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.115del (p.Ala39fs) deletion Uncertain significance 637877 X:70443671-70443671 X:71223821-71223821 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.94A>G (p.Arg32Gly) SNV Uncertain significance 637614 X:70443651-70443651 X:71223801-71223801 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.98T>A (p.Ile33Asn) SNV Uncertain significance 637634 X:70443655-70443655 X:71223805-71223805 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.101T>A (p.Met34Lys) SNV Uncertain significance 637636 X:70443658-70443658 X:71223808-71223808 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.103G>A (p.Val35Met) SNV Uncertain significance 637583 X:70443660-70443660 X:71223810-71223810 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.107T>C (p.Leu36Pro) SNV Uncertain significance 637627 X:70443664-70443664 X:71223814-71223814 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.109G>A (p.Val37Met) SNV Uncertain significance 637169 X:70443666-70443666 X:71223816-71223816 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.110del (p.Val37fs) deletion Uncertain significance 637196 X:70443667-70443667 X:71223817-71223817 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.113T>C (p.Val38Ala) SNV Uncertain significance 637179 X:70443670-70443670 X:71223820-71223820 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.114_115insC (p.Ala39fs) insertion Uncertain significance 637876 X:70443671-70443672 X:71223821-71223822 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.115G>C (p.Ala39Pro) SNV Uncertain significance 637592 X:70443672-70443672 X:71223822-71223822 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.116del (p.Ala39fs) deletion Uncertain significance 637153 X:70443673-70443673 X:71223823-71223823 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.116C>G (p.Ala39Gly) SNV Uncertain significance 637603 X:70443673-70443673 X:71223823-71223823 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.118G>A (p.Ala40Thr) SNV Uncertain significance 637198 X:70443675-70443675 X:71223825-71223825 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.121G>A (p.Glu41Lys) SNV Uncertain significance 637133 X:70443678-70443678 X:71223828-71223828 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.124A>T (p.Ser42Cys) SNV Uncertain significance 637557 X:70443681-70443681 X:71223831-71223831 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.127G>A (p.Val43Met) SNV Uncertain significance 637206 X:70443684-70443684 X:71223834-71223834 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.131G>T (p.Trp44Leu) SNV Uncertain significance 637134 X:70443688-70443688 X:71223838-71223838 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.132G>A (p.Trp44Ter) SNV Uncertain significance 637596 X:70443689-70443689 X:71223839-71223839 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.137A>G (p.Asp46Gly) SNV Uncertain significance 637655 X:70443694-70443694 X:71223844-71223844 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.140A>G (p.Glu47Gly) SNV Uncertain significance 637149 X:70443697-70443697 X:71223847-71223847 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.141_143dup (p.Lys48dup) duplication Uncertain significance 637944 X:70443696-70443697 X:71223846-71223847 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.146C>A (p.Ser49Tyr) SNV Uncertain significance 637683 X:70443703-70443703 X:71223853-71223853 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.155del (p.Ile52fs) deletion Uncertain significance 637646 X:70443712-70443712 X:71223862-71223862 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.157T>A (p.Cys53Ser) SNV Uncertain significance 637150 X:70443714-70443714 X:71223864-71223864 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.158G>A (p.Cys53Tyr) SNV Uncertain significance 637227 X:70443715-70443715 X:71223865-71223865 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.158G>C (p.Cys53Ser) SNV Uncertain significance 637246 X:70443715-70443715 X:71223865-71223865 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.164C>G (p.Thr55Arg) SNV Uncertain significance 637190 X:70443721-70443721 X:71223871-71223871 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.166C>T (p.Leu56Phe) SNV Uncertain significance 637185 X:70443723-70443723 X:71223873-71223873 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.171G>C (p.Gln57His) SNV Uncertain significance 637170 X:70443728-70443728 X:71223878-71223878 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.173C>G (p.Pro58Arg) SNV Uncertain significance 637239 X:70443730-70443730 X:71223880-71223880 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.175G>T (p.Gly59Cys) SNV Uncertain significance 637600 X:70443732-70443732 X:71223882-71223882 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.179G>T (p.Cys60Phe) SNV Uncertain significance 637595 X:70443736-70443736 X:71223886-71223886 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.186C>G (p.Ser62Arg) SNV Uncertain significance 637194 X:70443743-70443743 X:71223893-71223893 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.187G>T (p.Val63Phe) SNV Uncertain significance 637147 X:70443744-70443744 X:71223894-71223894 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.241C>T (p.Leu81Phe) SNV Uncertain significance 637207 X:70443798-70443798 X:71223948-71223948 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.246C>G (p.Ile82Met) SNV Uncertain significance 637249 X:70443803-70443803 X:71223953-71223953 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.248_257del (p.Leu83fs) deletion Uncertain significance 637558 X:70443804-70443813 X:71223954-71223963 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.248T>C (p.Leu83Pro) SNV Uncertain significance 637208 X:70443805-70443805 X:71223955-71223955 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.248T>G (p.Leu83Arg) SNV Uncertain significance 637242 X:70443805-70443805 X:71223955-71223955 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.250G>A (p.Val84Ile) SNV Uncertain significance 637667 X:70443807-70443807 X:71223957-71223957 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.251T>G (p.Val84Gly) SNV Uncertain significance 637229 X:70443808-70443808 X:71223958-71223958 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.254C>T (p.Ser85Phe) SNV Uncertain significance 637136 X:70443811-70443811 X:71223961-71223961 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.256A>G (p.Thr86Ala) SNV Uncertain significance 637674 X:70443813-70443813 X:71223963-71223963 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.256A>T (p.Thr86Ser) SNV Uncertain significance 637138 X:70443813-70443813 X:71223963-71223963 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.257C>A (p.Thr86Asn) SNV Uncertain significance 637137 X:70443814-70443814 X:71223964-71223964 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.257C>T (p.Thr86Ile) SNV Uncertain significance 637616 X:70443814-70443814 X:71223964-71223964 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.259C>T (p.Pro87Ser) SNV Uncertain significance 637177 X:70443816-70443816 X:71223966-71223966 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.260C>T (p.Pro87Leu) SNV Uncertain significance 637139 X:70443817-70443817 X:71223967-71223967 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.268C>G (p.Leu90Val) SNV Uncertain significance 637637 X:70443825-70443825 X:71223975-71223975 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.269T>A (p.Leu90His) SNV Uncertain significance 637186 X:70443826-70443826 X:71223976-71223976 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.272T>G (p.Val91Gly) SNV Uncertain significance 637564 X:70443829-70443829 X:71223979-71223979 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.273_274del (p.Ala92fs) deletion Uncertain significance 637676 X:70443830-70443831 X:71223980-71223981 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.275_276del (p.Ala92fs) deletion Uncertain significance 637677 X:70443832-70443833 X:71223982-71223983 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.277A>G (p.Met93Val) SNV Uncertain significance 637638 X:70443834-70443834 X:71223984-71223984 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.277_278del (p.Met93fs) deletion Uncertain significance 637561 X:70443834-70443835 X:71223984-71223985 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.278T>A (p.Met93Lys) SNV Uncertain significance 637643 X:70443835-70443835 X:71223985-71223985 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.278T>G (p.Met93Arg) SNV Uncertain significance 637250 X:70443835-70443835 X:71223985-71223985 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.280C>G (p.His94Asp) SNV Uncertain significance 637589 X:70443837-70443837 X:71223987-71223987 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.280C>T (p.His94Tyr) SNV Uncertain significance 637580 X:70443837-70443837 X:71223987-71223987 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.191G>C (p.Cys64Ser) SNV Uncertain significance 637586 X:70443748-70443748 X:71223898-71223898 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.191G>T (p.Cys64Phe) SNV Uncertain significance 637248 X:70443748-70443748 X:71223898-71223898 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.193T>C (p.Tyr65His) SNV Uncertain significance 637221 X:70443750-70443750 X:71223900-71223900 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.195T>G (p.Tyr65Ter) SNV Uncertain significance 637562 X:70443752-70443752 X:71223902-71223902 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.196G>A (p.Asp66Asn) SNV Uncertain significance 637684 X:70443753-70443753 X:71223903-71223903 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.196_198del (p.Asp66del) deletion Uncertain significance 637213 X:70443753-70443755 X:71223903-71223905 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.205T>C (p.Phe69Leu) SNV Uncertain significance 637244 X:70443762-70443762 X:71223912-71223912 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.210dup (p.Ile71fs) duplication Uncertain significance 637918 X:70443763-70443764 X:71223913-71223914 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.208C>T (p.Pro70Ser) SNV Uncertain significance 637604 X:70443765-70443765 X:71223915-71223915 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.208_209delinsTT (p.Pro70Phe) indel Uncertain significance 637606 X:70443765-70443766 X:71223915-71223916 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.212T>G (p.Ile71Ser) SNV Uncertain significance 637243 X:70443769-70443769 X:71223919-71223919 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.217del (p.His73fs) deletion Uncertain significance 637593 X:70443772-70443772 X:71223922-71223922 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.220G>A (p.Val74Met) SNV Uncertain significance 637223 X:70443777-70443777 X:71223927-71223927 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.224G>C (p.Arg75Pro) SNV Uncertain significance 637581 X:70443781-70443781 X:71223931-71223931 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.227T>G (p.Leu76Arg) SNV Uncertain significance 637641 X:70443784-70443784 X:71223934-71223934 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.230G>C (p.Trp77Ser) SNV Uncertain significance 637499 X:70443787-70443787 X:71223937-71223937 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.233C>T (p.Ser78Phe) SNV Uncertain significance 637228 X:70443790-70443790 X:71223940-71223940 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.234C>T (p.Ser78=) SNV Uncertain significance 637924 X:70443791-70443791 X:71223941-71223941 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2770C>T (p.His924Tyr) SNV Uncertain significance 637694 11:68705808-68705808 11:68938340-68938340 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2970_2982del (p.Glu990fs) deletion Uncertain significance 637949 11:68707185-68707197 11:68939717-68939729 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.5(MTMR2):c.1749G>A (p.Trp583Ter) SNV Uncertain significance 637810 11:95569333-95569333 11:95836169-95836169 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.6(MTMR2):c.1534del (p.Leu512fs) deletion Uncertain significance 637807 11:95571317-95571317 11:95838153-95838153 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.5(MTMR2):c.1343T>C (p.Leu448Pro) SNV Uncertain significance 637811 11:95578160-95578160 11:95844996-95844996 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.5(MTMR2):c.847C>T (p.Arg283Trp) SNV Uncertain significance 637808 11:95582984-95582984 11:95849820-95849820 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.5(MTMR2):c.841_844del (p.Ile281fs) deletion Uncertain significance 637809 11:95582987-95582990 11:95849823-95849826 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.6(MTMR2):c.324del (p.Asn109fs) deletion Uncertain significance 637805 11:95595469-95595469 11:95862305-95862305 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.5(MTMR2):c.308G>A (p.Gly103Glu) SNV Uncertain significance 637806 11:95595485-95595485 11:95862321-95862321 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.4782T>G (p.Tyr1594Ter) SNV Uncertain significance 637853 11:9810806-9810806 11:9789259-9789259 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.4299G>C (p.Arg1433Ser) SNV Uncertain significance 637852 11:9829691-9829691 11:9808144-9808144 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.1537C>T (p.Gln513Ter) SNV Uncertain significance 637851 11:9989951-9989951 11:9968404-9968404 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.1066C>T (p.Arg356Ter) SNV Uncertain significance 637855 11:10014638-10014638 11:9993091-9993091 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.2102C>T (p.Thr701Ile) SNV Uncertain significance 637421 12:110226311-110226311 12:109788506-109788506 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.904A>T (p.Asn302Tyr) SNV Uncertain significance 637420 12:110236667-110236667 12:109798862-109798862 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.694C>A (p.Arg232Ser) SNV Uncertain significance 637419 12:110240814-110240814 12:109803009-109803009 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB8 NM_014365.2(HSPB8):c.422A>C (p.Lys141Thr) SNV Uncertain significance 637689 12:119624884-119624884 12:119187079-119187079 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.514dup (p.Ala172fs) duplication Uncertain significance 637079 12:32735311-32735312 12:32582377-32582378 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.1698G>A (p.Met566Ile) SNV Uncertain significance 637078 12:32778650-32778650 12:32625716-32625716 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.1772G>A (p.Trp591Ter) SNV Uncertain significance 637084 12:32786493-32786493 12:32633559-32633559 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.1886_1889del (p.Arg629fs) deletion Uncertain significance 637083 12:32786604-32786607 12:32633670-32633673 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.1890_1894del (p.Lys630fs) deletion Uncertain significance 637081 12:32786609-32786613 12:32633675-32633679 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy WNK1 NM_018979.4(WNK1):c.640del (p.Met214fs) deletion Uncertain significance 637917 12:863370-863370 12:754204-754204 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy WNK1 NM_018979.4(WNK1):c.918_919insA (p.Gly307fs) insertion Uncertain significance 637898 12:922966-922967 12:813800-813801 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy WNK1 NM_018979.4(WNK1):c.1065_1066del (p.Phe356fs) deletion Uncertain significance 637896 12:936339-936340 12:827173-827174 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy WNK1 NM_018979.4(WNK1):c.1089_1090insT (p.Val364fs) insertion Uncertain significance 637916 12:936364-936365 12:827198-827199 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy WNK1 NM_018979.4(WNK1):c.1137dup (p.Ala380fs) duplication Uncertain significance 637897 12:936408-936409 12:827242-827243 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy INF2 NM_022489.4(INF2):c.170T>C (p.Leu57Pro) SNV Uncertain significance 637700 14:105167872-105167872 14:104701535-104701535 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy INF2 NM_022489.4(INF2):c.170T>G (p.Leu57Arg) SNV Uncertain significance 637708 14:105167872-105167872 14:104701535-104701535 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy INF2 NM_022489.4(INF2):c.203T>C (p.Phe68Ser) SNV Uncertain significance 637709 14:105167905-105167905 14:104701568-104701568 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy INF2 NM_022489.4(INF2):c.205_216del (p.Leu69_Ser72del) deletion Uncertain significance 637946 14:105167906-105167917 14:104701569-104701580 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy INF2 NM_022489.4(INF2):c.206T>C (p.Leu69Pro) SNV Uncertain significance 637710 14:105167908-105167908 14:104701571-104701571 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy INF2 NM_022489.4(INF2):c.230T>C (p.Leu77Pro) SNV Uncertain significance 637707 14:105167932-105167932 14:104701595-104701595 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy INF2 NM_022489.4(INF2):c.230T>G (p.Leu77Arg) SNV Uncertain significance 637705 14:105167932-105167932 14:104701595-104701595 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy INF2 NM_022489.4(INF2):c.314T>G (p.Val105Gly) SNV Uncertain significance 637703 14:105168016-105168016 14:104701679-104701679 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy INF2 NM_022489.4(INF2):c.317G>C (p.Arg106Pro) SNV Uncertain significance 637701 14:105168019-105168019 14:104701682-104701682 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy INF2 NM_022489.4(INF2):c.323T>A (p.Val108Asp) SNV Uncertain significance 637711 14:105168025-105168025 14:104701688-104701688 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy INF2 NM_022489.4(INF2):c.341G>A (p.Gly114Asp) SNV Uncertain significance 637704 14:105168043-105168043 14:104701706-104701706 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy INF2 NM_022489.4(INF2):c.395T>C (p.Leu132Pro) SNV Uncertain significance 637706 14:105169445-105169445 14:104703108-104703108 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy INF2 NM_022489.4(INF2):c.494T>C (p.Leu165Pro) SNV Uncertain significance 637702 14:105169544-105169544 14:104703207-104703207 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.1463del (p.Leu488fs) deletion Uncertain significance 637273 11:68701307-68701307 11:68933839-68933839 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1714_1716del (p.Lys572del) deletion Uncertain significance 637699 11:68702846-68702848 11:68935378-68935380 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.100dup (p.Ser34fs) duplication Uncertain significance 637556 8:75262794-75262795 8:74350559-74350560 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.101C>G (p.Ser34Cys) SNV Uncertain significance 637552 8:75262797-75262797 8:74350562-74350562 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.367del (p.Glu123fs) deletion Uncertain significance 637833 17:15134350-15134350 17:15231033-15231033 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.364_365del (p.Pro122fs) deletion Uncertain significance 637818 17:15134352-15134353 17:15231035-15231036 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.346_347insCC (p.Ile116fs) insertion Uncertain significance 637841 17:15134370-15134371 17:15231053-15231054 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.336T>G (p.Ser112Arg) SNV Uncertain significance 637370 17:15134381-15134381 17:15231064-15231064 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.325T>C (p.Cys109Arg) SNV Uncertain significance 637939 17:15134392-15134392 17:15231075-15231075 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.248_250TCT[1] (p.Phe84del) short repeat Uncertain significance 637837 17:15142854-15142856 17:15239537-15239539 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.227del (p.Ser76fs) deletion Uncertain significance 637372 17:15142880-15142880 17:15239563-15239563 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.206T>G (p.Met69Arg) SNV Uncertain significance 637834 17:15142901-15142901 17:15239584-15239584 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.193G>T (p.Val65Phe) SNV Uncertain significance 637832 17:15142914-15142914 17:15239597-15239597 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.183G>A (p.Trp61Ter) SNV Uncertain significance 637386 17:15142924-15142924 17:15239607-15239607 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.138_139delinsA (p.Ser47fs) indel Uncertain significance 637828 17:15162450-15162451 17:15259133-15259134 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.130_131del (p.Thr44fs) deletion Uncertain significance 637838 17:15162458-15162459 17:15259141-15259142 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.116G>A (p.Trp39Ter) SNV Uncertain significance 637374 17:15162473-15162473 17:15259156-15259156 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.88G>A (p.Val30Met) SNV Uncertain significance 637836 17:15162501-15162501 17:15259184-15259184 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.75_78+2del deletion Uncertain significance 637895 17:15163965-15163970 17:15260648-15260653 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SLC12A6 NM_001365088.1(SLC12A6):c.2028_2029insT (p.Arg677fs) insertion Uncertain significance 637872 15:34536188-34536189 15:34243987-34243988 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SLC12A6 NM_001365088.1(SLC12A6):c.1616G>A (p.Gly539Asp) SNV Uncertain significance 637871 15:34542532-34542532 15:34250331-34250331 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LITAF NM_001136473.1(LITAF):c.*116G>A SNV Uncertain significance 637892 16:11643502-11643502 16:11549646-11549646 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AARS1 NM_001605.2(AARS1):c.1823C>T (p.Thr608Met) SNV Uncertain significance 637511 16:70293052-70293052 16:70259149-70259149 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KARS1 NM_001130089.1(KARS1):c.906C>G (p.Ile302Met) SNV Uncertain significance 637712 16:75668164-75668164 16:75634266-75634266 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KARS1 NM_005548.2(KARS1):c.440_441dup (p.Arg148fs) duplication Uncertain significance 637488 16:75670392-75670393 16:75636494-75636495 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GAN NM_022041.3(GAN):c.305T>C (p.Ile102Thr) SNV Uncertain significance 637100 16:81388032-81388032 16:81354427-81354427 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GAN NM_022041.3(GAN):c.1312G>A (p.Val438Ile) SNV Uncertain significance 637101 16:81398654-81398654 16:81365049-81365049 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.475C>T (p.Arg159Cys) SNV Uncertain significance 637831 17:15134242-15134242 17:15230925-15230925 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.469C>G (p.Arg157Gly) SNV Uncertain significance 637387 17:15134248-15134248 17:15230931-15230931 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.441_442TC[1] (p.Leu148fs) short repeat Uncertain significance 637840 17:15134273-15134274 17:15230956-15230957 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.440T>G (p.Leu147Arg) SNV Uncertain significance 637381 17:15134277-15134277 17:15230960-15230960 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.419G>A (p.Trp140Ter) SNV Uncertain significance 637823 17:15134298-15134298 17:15230981-15230981 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.418T>A (p.Trp140Arg) SNV Uncertain significance 637842 17:15134299-15134299 17:15230982-15230982 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy EGR2 NM_000399.5(EGR2):c.1064A>T (p.Asp355Val) SNV Uncertain significance 637521 10:64573334-64573334 10:62813574-62813574 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy EGR2 NM_000399.5(EGR2):c.1057C>G (p.Arg353Gly) SNV Uncertain significance 637523 10:64573341-64573341 10:62813581-62813581 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.238A>G (p.Ser80Gly) SNV Uncertain significance 637693 11:68673688-68673688 11:68906220-68906220 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.983_984del (p.Lys328fs) deletion Uncertain significance 637272 11:68685272-68685273 11:68917804-68917805 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.1031T>G (p.Leu344Arg) SNV Uncertain significance 637125 8:75276556-75276556 8:74364321-74364321 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.2046+1G>T SNV Uncertain significance 637278 9:130263423-130263423 9:127501144-127501144 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SETX NM_015046.7(SETX):c.193G>A (p.Glu65Lys) SNV Uncertain significance 637862 9:135221843-135221843 9:132346456-132346456 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.397T>C (p.Cys133Arg) SNV Uncertain significance 637417 9:94842328-94842328 9:92080046-92080046 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.52T>C (p.Tyr18His) SNV Uncertain significance 637875 9:94877601-94877601 9:92115319-92115319 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy EGR2 NM_000399.5(EGR2):c.1147G>C (p.Asp383His) SNV Uncertain significance 637522 10:64573251-64573251 10:62813491-62813491 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.631T>C (p.Cys211Arg) SNV Uncertain significance 637542 7:30642711-30642711 7:30603095-30603095 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.815T>A (p.Leu272Gln) SNV Uncertain significance 637544 7:30649280-30649280 7:30609664-30609664 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.100G>A (p.Gly34Arg) SNV Uncertain significance 637256 7:75932129-75932129 7:76302812-76302812 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.121G>A (p.Glu41Lys) SNV Uncertain significance 637257 7:75932150-75932150 7:76302833-76302833 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IFRD1 NM_001007245.2(IFRD1):c.514A>G (p.Ile172Val) SNV Uncertain significance 637690 7:112099020-112099020 7:112458965-112458965 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.332C>T (p.Ala111Val) SNV Uncertain significance 637059 7:30639570-30639570 7:30599954-30599954 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.455C>T (p.Pro152Leu) SNV Uncertain significance 637108 7:30640702-30640702 7:30601086-30601086 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.596C>T (p.Thr199Ile) SNV Uncertain significance 637413 5:148421114-148421114 5:149041551-149041551 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.253del (p.Asp85fs) deletion Uncertain significance 637867 5:148427451-148427451 5:149047888-149047888 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.790_793delinsTTCCAAGAGCTGTT (p.Gly264fs) indel Uncertain significance 637525 6:110062661-110062664 6:109741458-109741461 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.1147_1148delinsT (p.Glu382_Lys383insTer) indel Uncertain significance 637526 6:110081462-110081463 6:109760259-109760260 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.1149_1150delinsT (p.Lys383fs) indel Uncertain significance 637085 6:110081464-110081465 6:109760261-109760262 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.1675A>T (p.Lys559Ter) SNV Uncertain significance 637527 6:110088023-110088023 6:109766820-109766820 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.1986dup (p.Lys663fs) duplication Uncertain significance 637086 6:110107541-110107542 6:109786338-109786339 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.2674C>T (p.Gln892Ter) SNV Uncertain significance 637863 5:148406621-148406621 5:149027058-149027058 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.2633C>A (p.Ala878Asp) SNV Uncertain significance 637407 5:148406662-148406662 5:149027099-149027099 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.2211_2213del (p.Cys737_Pro738delinsTer) deletion Uncertain significance 637408 5:148407082-148407084 5:149027519-149027521 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1985T>C (p.Leu662Pro) SNV Uncertain significance 637406 5:148407310-148407310 5:149027747-149027747 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.1915del (p.Ala639fs) deletion Uncertain significance 637870 5:148407380-148407380 5:149027817-149027817 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1894_1897delinsAAA (p.Glu632fs) indel Uncertain significance 637411 5:148407398-148407401 5:149027835-149027838 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HINT1 NM_005340.7(HINT1):c.182C>T (p.Ser61Phe) SNV Uncertain significance 637941 5:130498299-130498299 5:131162606-131162606 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3379C>T (p.Arg1127Trp) SNV Uncertain significance 637412 5:148388513-148388513 5:149008950-149008950 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3321C>A (p.Tyr1107Ter) SNV Uncertain significance 637416 5:148389839-148389839 5:149010276-149010276 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.3305del (p.His1102fs) deletion Uncertain significance 637414 5:148389855-148389855 5:149010292-149010292 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3202C>T (p.Gln1068Ter) SNV Uncertain significance 637869 5:148392149-148392149 5:149012586-149012586 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3013G>T (p.Glu1005Ter) SNV Uncertain significance 637415 5:148406175-148406175 5:149026612-149026612 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.307G>T (p.Gly103Trp) SNV Uncertain significance 637759 1:161276639-161276639 1:161306849-161306849 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.303G>C (p.Trp101Cys) SNV Uncertain significance 637775 1:161276643-161276643 1:161306853-161306853 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HINT1 NM_005340.7(HINT1):c.368G>A (p.Trp123Ter) SNV Uncertain significance 637254 5:130495153-130495153 5:131159460-131159460 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HINT1 NM_005340.7(HINT1):c.341A>G (p.His114Arg) SNV Uncertain significance 637253 5:130495180-130495180 5:131159487-131159487 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.203A>G (p.Tyr68Cys) SNV Uncertain significance 637354 1:161277079-161277079 1:161307289-161307289 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.200G>C (p.Arg67Pro) SNV Uncertain significance 637325 1:161277082-161277082 1:161307292-161307292 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.199C>T (p.Arg67Cys) SNV Uncertain significance 637803 1:161277083-161277083 1:161307293-161307293 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.358C>G (p.Arg120Gly) SNV Uncertain significance 637112 8:75272419-75272419 8:74360184-74360184 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.359G>A (p.Arg120Gln) SNV Uncertain significance 637548 8:75272420-75272420 8:74360185-74360185 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.364C>A (p.Gln122Lys) SNV Uncertain significance 637116 8:75272425-75272425 8:74360190-74360190 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.385G>C (p.Asp129His) SNV Uncertain significance 637113 8:75272446-75272446 8:74360211-74360211 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.389C>G (p.Ser130Cys) SNV Uncertain significance 637453 8:75272450-75272450 8:74360215-74360215 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.433_437del (p.Glu145fs) deletion Uncertain significance 637115 8:75272493-75272497 8:74360258-74360262 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.439del (p.Thr147fs) deletion Uncertain significance 637109 8:75272499-75272499 8:74360264-74360264 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.445G>T (p.Asp149Tyr) SNV Uncertain significance 637119 8:75272506-75272506 8:74360271-74360271 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.533A>G (p.Asn178Ser) SNV Uncertain significance 637478 8:75274167-75274167 8:74361932-74361932 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.558del (p.Ile186fs) deletion Uncertain significance 637126 8:75274191-75274191 8:74361956-74361956 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.656T>A (p.Val219Asp) SNV Uncertain significance 637117 8:75275250-75275250 8:74363015-74363015 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.656T>G (p.Val219Gly) SNV Uncertain significance 637477 8:75275250-75275250 8:74363015-74363015 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.664G>A (p.Glu222Lys) SNV Uncertain significance 637111 8:75275258-75275258 8:74363023-74363023 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.668T>A (p.Leu223Ter) SNV Uncertain significance 637554 8:75275262-75275262 8:74363027-74363027 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.677G>A (p.Arg226Lys) SNV Uncertain significance 637550 8:75275271-75275271 8:74363036-74363036 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.678A>C (p.Arg226Ser) SNV Uncertain significance 637114 8:75275272-75275272 8:74363037-74363037 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.679A>G (p.Asn227Asp) SNV Uncertain significance 637933 8:75275273-75275273 8:74363038-74363038 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.740C>T (p.Ala247Val) SNV Uncertain significance 637546 8:75276265-75276265 8:74364030-74364030 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.817C>G (p.Arg273Gly) SNV Uncertain significance 637110 8:75276342-75276342 8:74364107-74364107 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.836A>G (p.Tyr279Cys) SNV Uncertain significance 637120 8:75276361-75276361 8:74364126-74364126 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.840del (p.Tyr279_Tyr280insTer) deletion Uncertain significance 637127 8:75276365-75276365 8:74364130-74364130 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.864dup (p.Phe289fs) duplication Uncertain significance 637455 8:75276388-75276389 8:74364153-74364154 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.891C>G (p.Asn297Lys) SNV Uncertain significance 637932 8:75276416-75276416 8:74364181-74364181 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.117G>C (p.Lys39Asn) SNV Uncertain significance 637121 8:75262813-75262813 8:74350578-74350578 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.172_173delinsTTA (p.Pro59fs) indel Uncertain significance 637123 8:75263563-75263564 8:74351328-74351329 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.174_176delinsTGTG (p.Pro59fs) indel Uncertain significance 637547 8:75263565-75263567 8:74351330-74351332 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.233C>T (p.Pro78Leu) SNV Uncertain significance 637549 8:75263624-75263624 8:74351389-74351389 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.295C>T (p.Gln99Ter) SNV Uncertain significance 637118 8:75263686-75263686 8:74351451-74351451 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.332C>A (p.Pro111His) SNV Uncertain significance 637551 8:75272393-75272393 8:74360158-74360158 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.337_340AAAG[1] (p.Glu114fs) short repeat Uncertain significance 637454 8:75272398-75272401 8:74360163-74360166 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.562C>T (p.Arg188Trp) SNV Uncertain significance 637258 7:75933434-75933434 7:76304117-76304117 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy ARHGEF10 NM_014629.4(ARHGEF10):c.604A>C (p.Asn202His) SNV Uncertain significance 637512 8:1814750-1814750 8:1866584-1866584 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1285G>T (p.Glu429Ter) SNV Uncertain significance 637490 5:148408010-148408010 5:149028447-149028447 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.404C>G (p.Ser135Cys) SNV Uncertain significance 637060 7:75933158-75933158 7:76303841-76303841 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.421A>C (p.Lys141Gln) SNV Uncertain significance 637260 7:75933175-75933175 7:76303858-76303858 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.476_477del (p.Pro159fs) deletion Uncertain significance 637688 7:75933348-75933349 7:76304031-76304032 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.490A>G (p.Thr164Ala) SNV Uncertain significance 637687 7:75933362-75933362 7:76304045-76304045 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.298G>T (p.Ala100Ser) SNV Uncertain significance 694944 1:12052734-12052734 1:11992677-11992677 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.430G>A (p.Ala144Thr) SNV Uncertain significance 694945 1:12056331-12056331 1:11996274-11996274 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.472A>C (p.Lys158Gln) SNV Uncertain significance 694946 1:12056373-12056373 1:11996316-11996316 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.718T>C (p.Phe240Leu) SNV Uncertain significance 694947 1:12059054-12059054 1:11998997-11998997 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.796G>C (p.Glu266Gln) SNV Uncertain significance 694948 1:12059132-12059132 1:11999075-11999075 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.1138C>T (p.His380Tyr) SNV Uncertain significance 694949 1:12062138-12062138 1:12002081-12002081 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.1556G>A (p.Arg519His) SNV Uncertain significance 694951 1:12065828-12065828 1:12005771-12005771 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.1759C>T (p.Pro587Ser) SNV Uncertain significance 694952 1:12066637-12066637 1:12006580-12006580 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.2047A>C (p.Asn683His) SNV Uncertain significance 694953 1:12067284-12067284 1:12007227-12007227 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.551del (p.Leu184fs) deletion Uncertain significance 694954 1:161276152-161276152 1:161306362-161306362 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.550C>G (p.Leu184Val) SNV Uncertain significance 694955 1:161276153-161276153 1:161306363-161306363 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy RAB7A NM_004637.6(RAB7A):c.331del (p.Ser111fs) deletion Uncertain significance 694965 3:128525365-128525365 3:128806522-128806522 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.*858_*862del deletion Uncertain significance 694967 5:148383412-148383416 5:149003849-149003853 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.*861dup duplication Uncertain significance 694968 5:148383412-148383413 5:149003849-149003850 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.3295dup (p.Arg1099fs) duplication Uncertain significance 694969 5:148389864-148389865 5:149010301-149010302 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.3292A>C (p.Thr1098Pro) SNV Uncertain significance 694970 5:148389868-148389868 5:149010305-149010305 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.2228C>G (p.Ala743Gly) SNV Uncertain significance 694972 5:148407067-148407067 5:149027504-149027504 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.1813C>T (p.Arg605Cys) SNV Uncertain significance 694975 5:148407482-148407482 5:149027919-149027919 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.54dup (p.Lys19Ter) duplication Uncertain significance 694979 5:148431801-148431802 5:149052238-149052239 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.617A>G (p.Asp206Gly) SNV Uncertain significance 694981 6:110056472-110056472 6:109735269-109735269 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.645C>T (p.Ser215=) SNV Uncertain significance 694982 6:110056500-110056500 6:109735297-109735297 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.1073C>G (p.Ala358Gly) SNV Uncertain significance 694983 6:110064911-110064911 6:109743708-109743708 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.1474C>T (p.Arg492Cys) SNV Uncertain significance 694984 6:110086255-110086255 6:109765052-109765052 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.2552C>T (p.Pro851Leu) SNV Uncertain significance 694988 6:110146296-110146296 6:109825093-109825093 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.44C>T (p.Ala15Val) SNV Uncertain significance 694989 7:30634581-30634581 7:30594965-30594965 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.130A>C (p.Ile44Leu) SNV Uncertain significance 694990 7:30634667-30634667 7:30595051-30595051 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1403A>C (p.Asp468Ala) SNV Uncertain significance 694992 7:30661052-30661052 7:30621436-30621436 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1905G>A (p.Ser635=) SNV Uncertain significance 694995 7:30671864-30671864 7:30632248-30632248 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.2044C>A (p.His682Asn) SNV Uncertain significance 694996 7:30672003-30672003 7:30632387-30632387 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.1414del (p.Ser472fs) deletion Uncertain significance 694998 8:24811064-24811064 8:24953551-24953551 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.1413del (p.Ser472fs) deletion Uncertain significance 694999 8:24811065-24811065 8:24953552-24953552 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.1330A>C (p.Thr444Pro) SNV Uncertain significance 695000 8:24811149-24811149 8:24953635-24953635 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.1236C>A (p.Tyr412Ter) SNV Uncertain significance 695001 8:24811243-24811243 8:24953729-24953729 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.1037C>A (p.Ala346Asp) SNV Uncertain significance 695003 8:24812993-24812993 8:24955479-24955479 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.280C>T (p.Leu94Phe) SNV Uncertain significance 695005 8:24813750-24813750 8:24956236-24956236 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.919A>G (p.Thr307Ala) SNV Uncertain significance 695008 8:75276444-75276444 8:74364209-74364209 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.1066A>G (p.Asn356Asp) SNV Uncertain significance 695009 8:75276591-75276591 8:74364356-74364356 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.86G>C (p.Gly29Ala) SNV Uncertain significance 695010 9:130217290-130217290 9:127455011-127455011 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.1775A>C (p.His592Pro) SNV Uncertain significance 695012 9:130258319-130258319 9:127496040-127496040 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.2005G>T (p.Glu669Ter) SNV Uncertain significance 695013 9:130263381-130263381 9:127501102-127501102 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.2134_2145del (p.Asp712_Gln715del) deletion Uncertain significance 695015 9:130265136-130265147 9:127502857-127502868 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy EGR2 NM_000399.5(EGR2):c.1198_1199TG[1] (p.Cys400_Asp401delinsTer) short repeat Uncertain significance 694852 10:64573197-64573198 10:62813437-62813438 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy EGR2 NM_000399.5(EGR2):c.941A>C (p.His314Pro) SNV Uncertain significance 694853 10:64573457-64573457 10:62813697-62813697 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.596C>T (p.Ala199Val) SNV Uncertain significance 694854 11:68678956-68678956 11:68911488-68911488 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.742G>A (p.Val248Met) SNV Uncertain significance 694855 11:68682321-68682321 11:68914853-68914853 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.1062T>G (p.Gly354=) SNV Uncertain significance 694856 11:68696652-68696652 11:68929184-68929184 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.1235+1076G>A SNV Uncertain significance 694857 11:68697901-68697901 11:68930433-68930433 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.1924T>C (p.Tyr642His) SNV Uncertain significance 694859 11:68703872-68703872 11:68936404-68936404 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.2665G>C (p.Ala889Pro) SNV Uncertain significance 694860 11:68705703-68705703 11:68938235-68938235 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.2773del (p.His925fs) deletion Uncertain significance 694861 11:68705810-68705810 11:68938342-68938342 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.2777T>C (p.Leu926Pro) SNV Uncertain significance 694862 11:68705815-68705815 11:68938347-68938347 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.2789A>G (p.His930Arg) SNV Uncertain significance 694863 11:68707006-68707006 11:68939538-68939538 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.409G>C (p.Ala137Pro) SNV Uncertain significance 694836 12:110246251-110246251 12:109808446-109808446 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB8 NM_014365.3(HSPB8):c.25T>C (p.Ser9Pro) SNV Uncertain significance 694838 12:119617142-119617142 12:119179337-119179337 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB8 NM_014365.3(HSPB8):c.506C>T (p.Pro169Leu) SNV Uncertain significance 694839 12:119631578-119631578 12:119193773-119193773 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.3845T>G (p.Ile1282Arg) SNV Uncertain significance 694844 14:102466366-102466366 14:102000029-102000029 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.6023T>G (p.Val2008Gly) SNV Uncertain significance 694845 14:102476225-102476225 14:102009888-102009888 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.6728G>T (p.Arg2243Ile) SNV Uncertain significance 694847 14:102478321-102478321 14:102011984-102011984 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.9331A>G (p.Ser3111Gly) SNV Uncertain significance 694850 14:102494341-102494341 14:102028004-102028004 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.9703G>C (p.Ala3235Pro) SNV Uncertain significance 694851 14:102496216-102496216 14:102029879-102029879 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.9858A>C (p.Glu3286Asp) SNV Uncertain significance 694865 14:102496594-102496594 14:102030257-102030257 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.11402A>C (p.Tyr3801Ser) SNV Uncertain significance 694866 14:102505533-102505533 14:102039196-102039196 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.11416A>C (p.Thr3806Pro) SNV Uncertain significance 694867 14:102505547-102505547 14:102039210-102039210 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.11618G>C (p.Arg3873Pro) SNV Uncertain significance 694868 14:102505997-102505997 14:102039660-102039660 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.12763C>G (p.Arg4255Gly) SNV Uncertain significance 694869 14:102510689-102510689 14:102044352-102044352 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.12767T>G (p.Val4256Gly) SNV Uncertain significance 694870 14:102510693-102510693 14:102044356-102044356 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.13166A>G (p.His4389Arg) SNV Uncertain significance 694871 14:102514313-102514313 14:102047976-102047976 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.13565C>T (p.Thr4522Ile) SNV Uncertain significance 694872 14:102516100-102516100 14:102049763-102049763 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.13912C>T (p.Arg4638Trp) SNV Uncertain significance 694873 14:102516871-102516871 14:102050534-102050534 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LITAF NM_001136473.1(LITAF):c.*173C>T SNV Uncertain significance 694876 16:11643445-11643445 16:11549589-11549589 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LITAF NM_001136473.1(LITAF):c.*149C>A SNV Uncertain significance 694877 16:11643469-11643469 16:11549613-11549613 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LITAF NM_001136473.1(LITAF):c.*57G>C SNV Uncertain significance 694878 16:11643561-11643561 16:11549705-11549705 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LITAF NM_001136473.1(LITAF):c.409_412inv (p.Arg137_Ser138delinsCysGly) inversion Uncertain significance 694880 16:11645626-11645629 16:11551770-11551773 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LITAF NM_001136473.1(LITAF):c.86T>G (p.Val29Gly) SNV Uncertain significance 694883 16:11650501-11650501 16:11556645-11556645 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AARS1 NM_001605.3(AARS1):c.1138G>T (p.Val380Leu) SNV Uncertain significance 694885 16:70301646-70301646 16:70267743-70267743 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AARS1 NM_001605.3(AARS1):c.773A>G (p.Tyr258Cys) SNV Uncertain significance 694886 16:70304142-70304142 16:70270239-70270239 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AARS1 NM_001605.3(AARS1):c.205G>C (p.Ala69Pro) SNV Uncertain significance 694889 16:70310997-70310997 16:70277094-70277094 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.*83del deletion Uncertain significance 694890 17:15134151-15134151 17:15230834-15230834 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.317C>A (p.Ala106Asp) SNV Uncertain significance 694892 17:15142790-15142790 17:15239473-15239473 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SEPTIN9 NM_001113491.2(SEPTIN9):c.216A>C (p.Glu72Asp) SNV Uncertain significance 694894 17:75398280-75398280 17:77402198-77402198 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SEPTIN9 NM_001113491.2(SEPTIN9):c.614C>G (p.Ala205Gly) SNV Uncertain significance 694895 17:75398678-75398678 17:77402596-77402596 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SEPTIN9 NM_001113491.2(SEPTIN9):c.637C>T (p.Pro213Ser) SNV Uncertain significance 694896 17:75398701-75398701 17:77402619-77402619 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SEPTIN9 NM_001113491.2(SEPTIN9):c.722-6589G>C SNV Uncertain significance 694898 17:75471637-75471637 17:77475555-77475555 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SEPTIN9 NM_001113491.2(SEPTIN9):c.722-6334T>C SNV Uncertain significance 694900 17:75471892-75471892 17:77475810-77475810 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SEPTIN9 NM_001113491.2(SEPTIN9):c.722-6324del deletion Uncertain significance 694901 17:75471902-75471902 17:77475820-77475820 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SEPTIN9 NM_001113491.2(SEPTIN9):c.751G>T (p.Asp251Tyr) SNV Uncertain significance 694903 17:75478255-75478255 17:77482173-77482173 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SEPTIN9 NM_001113491.2(SEPTIN9):c.1423C>A (p.Gln475Lys) SNV Uncertain significance 694905 17:75488745-75488745 17:77492663-77492663 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SEPTIN9 NM_001113491.2(SEPTIN9):c.1480A>G (p.Met494Val) SNV Uncertain significance 694907 17:75489065-75489065 17:77492983-77492983 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SEPTIN9 NM_001113491.2(SEPTIN9):c.1707C>A (p.Ser569Arg) SNV Uncertain significance 694908 17:75494686-75494686 17:77498604-77498604 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SEPTIN9 NM_001113491.2(SEPTIN9):c.1751C>T (p.Pro584Leu) SNV Uncertain significance 694909 17:75494730-75494730 17:77498648-77498648 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.4312C>G (p.Pro1438Ala) SNV Uncertain significance 694910 19:40899947-40899947 19:40394040-40394040 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.4186G>A (p.Asp1396Asn) SNV Uncertain significance 694911 19:40900073-40900073 19:40394166-40394166 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.3925C>G (p.Pro1309Ala) SNV Uncertain significance 694912 19:40900334-40900334 19:40394427-40394427 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LITAF NM_001136473.1(LITAF):c.268C>T (p.Arg90Cys) SNV Uncertain significance 641266 16:11647498-11647498 16:11553642-11553642 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AARS1 NM_001605.2(AARS1):c.1420C>T (p.Arg474Trp) SNV Uncertain significance 664851 16:70298933-70298933 16:70265030-70265030 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AARS1 NM_001605.2(AARS1):c.304G>C (p.Gly102Arg) SNV Uncertain significance 651906 16:70310898-70310898 16:70276995-70276995 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.10657C>G (p.Leu3553Val) SNV Uncertain significance 663304 14:102500692-102500692 14:102034355-102034355 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.13795G>A (p.Glu4599Lys) SNV Uncertain significance 657774 14:102516518-102516518 14:102050181-102050181 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LITAF NM_001136473.1(LITAF):c.*51G>A SNV Uncertain significance 640744 16:11643567-11643567 16:11549711-11549711 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.862-2A>G SNV Uncertain significance 637856 11:10019928-10019928 11:9998381-9998381 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.837-2A>G SNV Uncertain significance 637942 12:32755093-32755093 12:32602159-32602159 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.837-1G>A SNV Uncertain significance 637082 12:32755094-32755094 12:32602160-32602160 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.1132+1G>A SNV Uncertain significance 637080 12:32761030-32761030 12:32608096-32608096 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.320-1G>C SNV Uncertain significance 637825 17:15134398-15134398 17:15231081-15231081 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.319+1G>A SNV Uncertain significance 637382 17:15142787-15142787 17:15239470-15239470 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.179-1G>C SNV Uncertain significance 637378 17:15142929-15142929 17:15239612-15239612 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.751G>A (p.Ala251Thr) SNV Uncertain significance 655582 19:50333407-50333407 19:49830150-49830150 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.1889C>T (p.Pro630Leu) SNV Uncertain significance 647071 19:50339126-50339126 19:49835869-49835869 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.68-3C>A SNV Uncertain significance 640280 1:161277217-161277217 1:161307427-161307427 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.299G>T (p.Gly100Val) SNV Uncertain significance 641676 17:15142808-15142808 17:15239491-15239491 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*4222C>A SNV Uncertain significance 654826 19:40900242-40900242 19:40394335-40394335 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*3216C>T SNV Uncertain significance 663893 19:40901248-40901248 19:40395341-40395341 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*1790A>G SNV Uncertain significance 664478 19:40902674-40902674 19:40396767-40396767 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*887C>G SNV Uncertain significance 643081 19:40903577-40903577 19:40397670-40397670 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*705G>A SNV Uncertain significance 659819 19:40903759-40903759 19:40397852-40397852 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.2087G>A (p.Cys696Tyr) SNV Uncertain significance 639095 9:130265093-130265093 9:127502814-127502814 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.2108T>C (p.Leu703Pro) SNV Uncertain significance 654779 9:130265114-130265114 9:127502835-127502835 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.1168C>T (p.Leu390Phe) SNV Uncertain significance 651220 9:94800616-94800616 9:92038334-92038334 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.190A>G (p.Thr64Ala) SNV Uncertain significance 649539 11:10064480-10064480 11:10042933-10042933 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy BSCL2 NM_032667.6(BSCL2):c.286C>A (p.Arg96Ser) SNV Uncertain significance 641509 11:62469948-62469948 11:62702476-62702476 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.389G>A (p.Arg130Gln) SNV Uncertain significance 643169 11:68675745-68675745 11:68908277-68908277 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.440G>A (p.Arg147Gln) SNV Uncertain significance 664193 11:68675796-68675796 11:68908328-68908328 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2561A>G (p.Gln854Arg) SNV Uncertain significance 643088 11:68704509-68704509 11:68937041-68937041 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2713G>A (p.Gly905Ser) SNV Uncertain significance 639203 11:68705751-68705751 11:68938283-68938283 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.4459C>T (p.Pro1487Ser) SNV Uncertain significance 663998 11:9817489-9817489 11:9795942-9795942 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.1559G>A (p.Arg520Gln) SNV Uncertain significance 649958 11:9989929-9989929 11:9968382-9968382 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.2447G>A (p.Arg816His) SNV Uncertain significance 643814 12:110222132-110222132 12:109784327-109784327 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.1981C>T (p.Arg661Cys) SNV Uncertain significance 655488 12:110226432-110226432 12:109788627-109788627 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.202C>T (p.Arg68Cys) SNV Uncertain significance 651174 12:110252400-110252400 12:109814595-109814595 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.183C>T (p.Gly61=) SNV Uncertain significance 641818 12:110252419-110252419 12:109814614-109814614 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.145C>A (p.Pro49Thr) SNV Uncertain significance 649227 12:110252457-110252457 12:109814652-109814652 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.50A>G (p.Glu17Gly) SNV Uncertain significance 639307 12:110252552-110252552 12:109814747-109814747 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.95C>T (p.Ser32Leu) SNV Uncertain significance 665415 12:32734896-32734896 12:32581962-32581962 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.2095A>G (p.Met699Val) SNV Uncertain significance 658814 12:32793261-32793261 12:32640327-32640327 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.353G>A (p.Arg118Gln) SNV Uncertain significance 662692 12:57883280-57883280 12:57489497-57489497 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.1945A>G (p.Asn649Asp) SNV Uncertain significance 655481 12:57906725-57906725 12:57512942-57512942 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.1912G>A (p.Val638Ile) SNV Uncertain significance 649519 14:102452474-102452474 14:101986137-101986137 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.174_178+7del deletion Uncertain significance 637839 17:15162404-15162415 17:15259087-15259098 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.178+1G>C SNV Uncertain significance 637817 17:15162410-15162410 17:15259093-15259093 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.79-2A>G SNV Uncertain significance 637371 17:15162512-15162512 17:15259195-15259195 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.78+5G>A SNV Uncertain significance 637824 17:15163962-15163962 17:15260645-15260645 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.78+1G>T SNV Uncertain significance 637821 17:15163966-15163966 17:15260649-15260649 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.-16-3C>G SNV Uncertain significance 637570 X:70443539-70443539 X:71223689-71223689 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.2905G>A (p.Ala969Thr) SNV Uncertain significance 663891 1:10394696-10394696 1:10334638-10334638 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.3754A>G (p.Ile1252Val) SNV Uncertain significance 649366 1:10408734-10408734 1:10348676-10348676 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.661G>C (p.Asp221His) SNV Uncertain significance 657419 1:12058888-12058888 1:11998831-11998831 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) SNV Uncertain significance 656550 1:156105782-156105782 1:156135991-156135991 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNAJB2 NM_006736.6(DNAJB2):c.674C>T (p.Pro225Leu) SNV Uncertain significance 647696 2:220149408-220149408 2:219284686-219284686 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SLC25A46 NM_138773.4(SLC25A46):c.955G>C (p.Ala319Pro) SNV Uncertain significance 651121 5:110097180-110097180 5:110761480-110761480 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3847G>T (p.Gly1283Cys) SNV Uncertain significance 655809 5:148384294-148384294 5:149004731-149004731 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3332G>T (p.Gly1111Val) SNV Uncertain significance 647436 5:148388560-148388560 5:149008997-149008997 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.793T>A (p.Ser265Thr) SNV Uncertain significance 641251 5:148420179-148420179 5:149040616-149040616 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.559G>A (p.Val187Met) SNV Uncertain significance 640103 5:148421151-148421151 5:149041588-149041588 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.1880C>A (p.Thr627Lys) SNV Uncertain significance 660760 6:110098254-110098254 6:109777051-109777051 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.19G>T (p.Val7Leu) SNV Uncertain significance 657471 7:30634556-30634556 7:30594940-30594940 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.301C>T (p.Arg101Cys) SNV Uncertain significance 665249 7:30638490-30638490 7:30598874-30598874 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.4(NEFL):c.743A>C (p.Asp248Ala) SNV Uncertain significance 646801 8:24813287-24813287 8:24955773-24955773 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.4(NEFL):c.637A>G (p.Ile213Val) SNV Uncertain significance 646501 8:24813393-24813393 8:24955879-24955879 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.1142G>A (p.Arg381Gln) SNV Uncertain significance 665625 9:130245282-130245282 9:127483003-127483003 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.481G>C (p.Ala161Pro) SNV Uncertain significance 637143 X:70444038-70444038 X:71224188-71224188 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.482C>A (p.Ala161Asp) SNV Uncertain significance 637661 X:70444039-70444039 X:71224189-71224189 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.484dup (p.Met162fs) duplication Uncertain significance 637672 X:70444040-70444041 X:71224190-71224191 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.490C>G (p.Arg164Gly) SNV Uncertain significance 637567 X:70444047-70444047 X:71224197-71224197 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.494T>C (p.Leu165Pro) SNV Uncertain significance 637568 X:70444051-70444051 X:71224201-71224201 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.498_502del (p.Lys167fs) deletion Uncertain significance 637161 X:70444053-70444057 X:71224203-71224207 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.499A>G (p.Lys167Glu) SNV Uncertain significance 637182 X:70444056-70444056 X:71224206-71224206 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.502T>C (p.Cys168Arg) SNV Uncertain significance 637159 X:70444059-70444059 X:71224209-71224209 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.508G>A (p.Val170Ile) SNV Uncertain significance 637926 X:70444065-70444065 X:71224215-71224215 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.508G>T (p.Val170Phe) SNV Uncertain significance 637610 X:70444065-70444065 X:71224215-71224215 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.509T>A (p.Val170Asp) SNV Uncertain significance 637176 X:70444066-70444066 X:71224216-71224216 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.514C>G (p.Pro172Ala) SNV Uncertain significance 637168 X:70444071-70444071 X:71224221-71224221 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.515C>G (p.Pro172Arg) SNV Uncertain significance 637247 X:70444072-70444072 X:71224222-71224222 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.517T>C (p.Cys173Arg) SNV Uncertain significance 637212 X:70444074-70444074 X:71224224-71224224 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.518G>T (p.Cys173Phe) SNV Uncertain significance 637236 X:70444075-70444075 X:71224225-71224225 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.521C>T (p.Pro174Leu) SNV Uncertain significance 637224 X:70444078-70444078 X:71224228-71224228 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.523A>G (p.Asn175Asp) SNV Uncertain significance 637669 X:70444080-70444080 X:71224230-71224230 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.524A>G (p.Asn175Ser) SNV Uncertain significance 637180 X:70444081-70444081 X:71224231-71224231 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.530T>A (p.Val177Glu) SNV Uncertain significance 637241 X:70444087-70444087 X:71224237-71224237 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.530T>C (p.Val177Ala) SNV Uncertain significance 637171 X:70444087-70444087 X:71224237-71224237 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.532G>T (p.Asp178Tyr) SNV Uncertain significance 637582 X:70444089-70444089 X:71224239-71224239 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.533_536dup (p.Cys179Ter) duplication Uncertain significance 637497 X:70444088-70444089 X:71224238-71224239 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.533A>T (p.Asp178Val) SNV Uncertain significance 637183 X:70444090-70444090 X:71224240-71224240 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.535T>C (p.Cys179Arg) SNV Uncertain significance 637144 X:70444092-70444092 X:71224242-71224242 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.535T>G (p.Cys179Gly) SNV Uncertain significance 637199 X:70444092-70444092 X:71224242-71224242 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.445T>A (p.Phe149Ile) SNV Uncertain significance 637210 X:70444002-70444002 X:71224152-71224152 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.445T>G (p.Phe149Val) SNV Uncertain significance 637240 X:70444002-70444002 X:71224152-71224152 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.451T>A (p.Tyr151Asn) SNV Uncertain significance 637660 X:70444008-70444008 X:71224158-71224158 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.451T>C (p.Tyr151His) SNV Uncertain significance 637656 X:70444008-70444008 X:71224158-71224158 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.454del (p.Val152fs) deletion Uncertain significance 637620 X:70444011-70444011 X:71224161-71224161 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.455T>A (p.Val152Asp) SNV Uncertain significance 637181 X:70444012-70444012 X:71224162-71224162 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.459_460del (p.Phe153fs) deletion Uncertain significance 637154 X:70444014-70444015 X:71224164-71224165 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.458T>C (p.Phe153Ser) SNV Uncertain significance 637192 X:70444015-70444015 X:71224165-71224165 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.458T>G (p.Phe153Cys) SNV Uncertain significance 637618 X:70444015-70444015 X:71224165-71224165 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.466C>T (p.Leu156Phe) SNV Uncertain significance 637184 X:70444023-70444023 X:71224173-71224173 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.470A>G (p.Tyr157Cys) SNV Uncertain significance 637141 X:70444027-70444027 X:71224177-71224177 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.472C>G (p.Pro158Ala) SNV Uncertain significance 637158 X:70444029-70444029 X:71224179-71224179 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.472C>T (p.Pro158Ser) SNV Uncertain significance 637211 X:70444029-70444029 X:71224179-71224179 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.473C>G (p.Pro158Arg) SNV Uncertain significance 637142 X:70444030-70444030 X:71224180-71224180 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.474del (p.Gly159fs) deletion Uncertain significance 637649 X:70444031-70444031 X:71224181-71224181 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.476G>A (p.Gly159Asp) SNV Uncertain significance 637591 X:70444033-70444033 X:71224183-71224183 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.503G>A (p.Cys168Tyr) SNV Uncertain significance 637657 X:70444060-70444060 X:71224210-71224210 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.382T>C (p.Ser128Pro) SNV Uncertain significance 637140 X:70443939-70443939 X:71224089-71224089 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.383C>A (p.Ser128Ter) SNV Uncertain significance 637597 X:70443940-70443940 X:71224090-71224090 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.383C>G (p.Ser128Ter) SNV Uncertain significance 637245 X:70443940-70443940 X:71224090-71224090 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.383C>T (p.Ser128Leu) SNV Uncertain significance 637633 X:70443940-70443940 X:71224090-71224090 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.389C>T (p.Thr130Ile) SNV Uncertain significance 637590 X:70443946-70443946 X:71224096-71224096 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.396G>A (p.Trp132Ter) SNV Uncertain significance 637195 X:70443953-70443953 X:71224103-71224103 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.397del (p.Trp133fs) deletion Uncertain significance 637218 X:70443954-70443954 X:71224104-71224104 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.399G>A (p.Trp133Ter) SNV Uncertain significance 637664 X:70443956-70443956 X:71224106-71224106 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.399G>T (p.Trp133Cys) SNV Uncertain significance 637675 X:70443956-70443956 X:71224106-71224106 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.404A>G (p.Tyr135Cys) SNV Uncertain significance 637209 X:70443961-70443961 X:71224111-71224111 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.410del (p.Ile137fs) deletion Uncertain significance 637573 X:70443967-70443967 X:71224117-71224117 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.413G>A (p.Ser138Asn) SNV Uncertain significance 637605 X:70443970-70443970 X:71224120-71224120 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.419T>A (p.Val140Glu) SNV Uncertain significance 637623 X:70443976-70443976 X:71224126-71224126 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.424del (p.Arg142fs) deletion Uncertain significance 637681 X:70443980-70443980 X:71224130-71224130 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.428T>C (p.Leu143Pro) SNV Uncertain significance 637624 X:70443985-70443985 X:71224135-71224135 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.429_431GTT[1] (p.Leu144del) short repeat Uncertain significance 637594 X:70443985-70443987 X:71224135-71224137 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.436G>A (p.Glu146Lys) SNV Uncertain significance 637650 X:70443993-70443993 X:71224143-71224143 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.436_437delinsAT (p.Glu146Met) indel Uncertain significance 637659 X:70443993-70443994 X:71224143-71224144 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.437A>C (p.Glu146Ala) SNV Uncertain significance 637644 X:70443994-70443994 X:71224144-71224144 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.439del (p.Ala147fs) deletion Uncertain significance 637635 X:70443995-70443995 X:71224145-71224145 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.440C>A (p.Ala147Asp) SNV Uncertain significance 637651 X:70443997-70443997 X:71224147-71224147 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.282C>G (p.His94Gln) SNV Uncertain significance 637647 X:70443839-70443839 X:71223989-71223989 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.286G>C (p.Ala96Pro) SNV Uncertain significance 637230 X:70443843-70443843 X:71223993-71223993 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.295C>T (p.Gln99Ter) SNV Uncertain significance 637663 X:70443852-70443852 X:71224002-71224002 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.298C>T (p.His100Tyr) SNV Uncertain significance 637678 X:70443855-70443855 X:71224005-71224005 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.300C>G (p.His100Gln) SNV Uncertain significance 637609 X:70443857-70443857 X:71224007-71224007 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.304G>T (p.Glu102Ter) SNV Uncertain significance 637187 X:70443861-70443861 X:71224011-71224011 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.308dup (p.Lys104fs) duplication Uncertain significance 637878 X:70443863-70443864 X:71224013-71224014 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.313del (p.Met105fs) deletion Uncertain significance 637601 X:70443867-70443867 X:71224017-71224017 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.311A>C (p.Lys104Thr) SNV Uncertain significance 637686 X:70443868-70443868 X:71224018-71224018 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.323T>C (p.Leu108Pro) SNV Uncertain significance 637682 X:70443880-70443880 X:71224030-71224030 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.332_349del (p.His111_His116del) deletion Uncertain significance 637922 X:70443887-70443904 X:71224037-71224054 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.338_345delinsTGGC (p.Asp113fs) indel Uncertain significance 637598 X:70443895-70443902 X:71224045-71224052 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.355G>T (p.Glu119Ter) SNV Uncertain significance 637235 X:70443912-70443912 X:71224062-71224062 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.358_360del (p.Val120del) deletion Uncertain significance 637652 X:70443914-70443916 X:71224064-71224066 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.359T>A (p.Val120Glu) SNV Uncertain significance 637612 X:70443916-70443916 X:71224066-71224066 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.371del (p.Lys124fs) deletion Uncertain significance 637128 X:70443927-70443927 X:71224077-71224077 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.374T>A (p.Val125Asp) SNV Uncertain significance 637191 X:70443931-70443931 X:71224081-71224081 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.379A>T (p.Ile127Phe) SNV Uncertain significance 637658 X:70443936-70443936 X:71224086-71224086 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.380T>G (p.Ile127Ser) SNV Uncertain significance 637685 X:70443937-70443937 X:71224087-71224087 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.539T>C (p.Phe180Ser) SNV Uncertain significance 637175 X:70444096-70444096 X:71224246-71224246 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.541G>C (p.Val181Leu) SNV Uncertain significance 637662 X:70444098-70444098 X:71224248-71224248 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.542T>C (p.Val181Ala) SNV Uncertain significance 637559 X:70444099-70444099 X:71224249-71224249 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.544T>A (p.Ser182Thr) SNV Uncertain significance 637584 X:70444101-70444101 X:71224251-71224251 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.545C>G (p.Ser182Cys) SNV Uncertain significance 637628 X:70444102-70444102 X:71224252-71224252 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.545C>T (p.Ser182Phe) SNV Uncertain significance 637629 X:70444102-70444102 X:71224252-71224252 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.547C>A (p.Arg183Ser) SNV Uncertain significance 637587 X:70444104-70444104 X:71224254-71224254 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.548G>C (p.Arg183Pro) SNV Uncertain significance 637630 X:70444105-70444105 X:71224255-71224255 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.551C>G (p.Pro184Arg) SNV Uncertain significance 637188 X:70444108-70444108 X:71224258-71224258 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.553_555del (p.Thr185del) deletion Uncertain significance 637579 X:70444108-70444110 X:71224258-71224260 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.578T>G (p.Phe193Cys) SNV Uncertain significance 637574 X:70444135-70444135 X:71224285-71224285 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.579C>G (p.Phe193Leu) SNV Uncertain significance 637639 X:70444136-70444136 X:71224286-71224286 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.592T>G (p.Ser198Ala) SNV Uncertain significance 637645 X:70444149-70444149 X:71224299-71224299 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.593C>T (p.Ser198Phe) SNV Uncertain significance 637575 X:70444150-70444150 X:71224300-71224300 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.595G>C (p.Gly199Arg) SNV Uncertain significance 637178 X:70444152-70444152 X:71224302-71224302 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.601T>C (p.Cys201Arg) SNV Uncertain significance 637671 X:70444158-70444158 X:71224308-71224308 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.601T>G (p.Cys201Gly) SNV Uncertain significance 637238 X:70444158-70444158 X:71224308-71224308 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.602G>A (p.Cys201Tyr) SNV Uncertain significance 637602 X:70444159-70444159 X:71224309-71224309 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.602G>T (p.Cys201Phe) SNV Uncertain significance 637151 X:70444159-70444159 X:71224309-71224309 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.606del (p.Ile203fs) deletion Uncertain significance 637233 X:70444163-70444163 X:71224313-71224313 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.608T>A (p.Ile203Asn) SNV Uncertain significance 637668 X:70444165-70444165 X:71224315-71224315 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.610C>T (p.Leu204Phe) SNV Uncertain significance 637670 X:70444167-70444167 X:71224317-71224317 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.614A>T (p.Asn205Ile) SNV Uncertain significance 637572 X:70444171-70444171 X:71224321-71224321 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.617dup (p.Ala207fs) duplication Uncertain significance 637222 X:70444173-70444174 X:71224323-71224324 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.623A>G (p.Glu208Gly) SNV Uncertain significance 637626 X:70444180-70444180 X:71224330-71224330 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.625_627GTG[1] (p.Val210del) short repeat Uncertain significance 637653 X:70444181-70444183 X:71224331-71224333 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.557A>T (p.Glu186Val) SNV Uncertain significance 637237 X:70444114-70444114 X:71224264-71224264 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.571dup (p.Thr191fs) duplication Uncertain significance 637193 X:70444127-70444128 X:71224277-71224278 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.571A>G (p.Thr191Ala) SNV Uncertain significance 637625 X:70444128-70444128 X:71224278-71224278 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.573_574insTCA (p.Val192_Phe193insSer) insertion Uncertain significance 637251 X:70444130-70444131 X:71224280-71224281 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.631T>C (p.Tyr211His) SNV Uncertain significance 637571 X:70444188-70444188 X:71224338-71224338 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.634del (p.Leu212fs) deletion Uncertain significance 637155 X:70444190-70444190 X:71224340-71224340 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.634C>T (p.Leu212Phe) SNV Uncertain significance 637148 X:70444191-70444191 X:71224341-71224341 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.641T>A (p.Ile214Asn) SNV Uncertain significance 637152 X:70444198-70444198 X:71224348-71224348 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.641_642delinsAT (p.Ile214Asn) indel Uncertain significance 637621 X:70444198-70444199 X:71224348-71224349 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.651T>A (p.Cys217Ter) SNV Uncertain significance 637172 X:70444208-70444208 X:71224358-71224358 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.655C>T (p.Arg219Cys) SNV Uncertain significance 637577 X:70444212-70444212 X:71224362-71224362 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.677A>G (p.Asn226Ser) SNV Uncertain significance 637640 X:70444234-70444234 X:71224384-71224384 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.689G>T (p.Arg230Leu) SNV Uncertain significance 637578 X:70444246-70444246 X:71224396-71224396 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.713G>A (p.Arg238His) SNV Uncertain significance 637202 X:70444270-70444270 X:71224420-71224420 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.715C>A (p.Leu239Ile) SNV Uncertain significance 637217 X:70444272-70444272 X:71224422-71224422 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.761dup (p.Gln255fs) duplication Uncertain significance 637919 X:70444317-70444318 X:71224467-71224468 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.775del (p.Ser258_Leu259insTer) deletion Uncertain significance 637654 X:70444330-70444330 X:71224480-71224480 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.778A>G (p.Lys260Glu) SNV Uncertain significance 637611 X:70444335-70444335 X:71224485-71224485 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.791G>T (p.Arg264Leu) SNV Uncertain significance 637631 X:70444348-70444348 X:71224498-71224498 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.793_821del (p.Arg264_Arg265insTer) deletion Uncertain significance 637883 X:70444348-70444376 X:71224498-71224526 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.838T>G (p.Cys280Gly) SNV Uncertain significance 637156 X:70444395-70444395 X:71224545-71224545 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.842C>A (p.Ser281Ter) SNV Uncertain significance 637203 X:70444399-70444399 X:71224549-71224549 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NTRK1 NM_002529.3(NTRK1):c.359+5G>T SNV Uncertain significance 637815 1:156834596-156834596 1:156864804-156864804 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NTRK1 NM_002529.3(NTRK1):c.429-1G>C SNV Uncertain significance 637475 1:156837895-156837895 1:156868103-156868103 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.849C>A (p.Cys283Ter) SNV Uncertain significance 637231 X:70444406-70444406 X:71224556-71224556 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_003912.1:c.1480_1593del deletion Uncertain significance 637472 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.311+1G>T SNV Uncertain significance 637302 1:12052748-12052748 1:11992691-11992691 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.475-1G>C SNV Uncertain significance 637718 1:12057353-12057353 1:11997296-11997296 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.475-1G>T SNV Uncertain significance 637304 1:12057353-12057353 1:11997296-11997296 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.365-13C>T SNV Uncertain significance 637255 7:75933106-75933106 7:76303789-76303789 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.310+3A>G SNV Uncertain significance 637124 8:75263704-75263704 8:74351469-74351469 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.311-1G>A SNV Uncertain significance 637452 8:75272371-75272371 8:74360136-74360136 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.485-2A>G SNV Uncertain significance 637553 8:75274117-75274117 8:74361882-74361882 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.5(MTMR2):c.1593+1G>A SNV Uncertain significance 637804 11:95571257-95571257 11:95838093-95838093 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.5(MTMR2):c.358-2A>T SNV Uncertain significance 637812 11:95595268-95595268 11:95862104-95862104 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SCN11A NM_001349253.2(SCN11A):c.4057-1G>A SNV Uncertain significance 637860 3:38892243-38892243 3:38850752-38850752 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3676-1G>A SNV Uncertain significance 637866 5:148384466-148384466 5:149004903-149004903 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.2873-14T>A SNV Uncertain significance 637865 5:148406329-148406329 5:149026766-149026766 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.530-1G>A SNV Uncertain significance 637864 5:148421181-148421181 5:149041618-149041618 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.877-2A>C SNV Uncertain significance 637528 6:110064311-110064311 6:109743108-109743108 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NTRK1 NM_002529.3(NTRK1):c.1633-1G>T SNV Uncertain significance 637813 1:156846191-156846191 1:156876399-156876399 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.449-1G>T SNV Uncertain significance 637767 1:161276255-161276255 1:161306465-161306465 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.449-1G>C SNV Uncertain significance 637757 1:161276255-161276255 1:161306465-161306465 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.449-1G>A SNV Uncertain significance 637774 1:161276255-161276255 1:161306465-161306465 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.449-9C>T SNV Uncertain significance 637329 1:161276263-161276263 1:161306473-161306473 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.235-1G>C SNV Uncertain significance 637498 1:161276712-161276712 1:161306922-161306922 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro) SNV Uncertain significance 805447 5:148392208-148392208 5:149012645-149012645 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AARS1 NM_001605.3(AARS1):c.1429G>A (p.Gly477Ser) SNV Uncertain significance 810834 16:70298924-70298924 16:70265021-70265021 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AARS1 NM_001605.3(AARS1):c.1388T>C (p.Ile463Thr) SNV Uncertain significance 810833 16:70298965-70298965 16:70265062-70265062 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AARS1 NM_001605.3(AARS1):c.1208G>C (p.Ser403Thr) SNV Uncertain significance 810832 16:70301576-70301576 16:70267673-70267673 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AARS1 NM_001605.3(AARS1):c.1043C>T (p.Thr348Met) SNV Uncertain significance 810831 16:70302202-70302202 16:70268299-70268299 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AARS1 NM_001605.3(AARS1):c.503C>T (p.Pro168Leu) SNV Uncertain significance 810835 16:70305852-70305852 16:70271949-70271949 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AARS1 NM_001605.3(AARS1):c.72G>A (p.Thr24=) SNV Uncertain significance 810836 16:70316595-70316595 16:70282692-70282692 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.679C>T (p.Arg227Trp) SNV Uncertain significance 862708 5:148421031-148421031 5:149041468-149041468 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.2141C>T (p.Thr714Ile) SNV Uncertain significance 839068 6:110110841-110110841 6:109789638-109789638 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.44A>C (p.Lys15Thr) SNV Uncertain significance 840141 8:24813986-24813986 8:24956472-24956472 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.84G>T (p.Trp28Cys) SNV Uncertain significance 827643 17:15162505-15162505 17:15259188-15259188 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.179-1G>A SNV Uncertain significance 827642 17:15142929-15142929 17:15239612-15239612 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.1769G>A (p.Ser590Asn) SNV Uncertain significance 838914 1:10355816-10355816 1:10295758-10295758 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.2846C>T (p.Thr949Met) SNV Uncertain significance 845482 1:10386339-10386339 1:10326281-10326281 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.538A>C (p.Ser180Arg) SNV Uncertain significance 858427 1:12057417-12057417 1:11997360-11997360 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.1714C>T (p.Arg572Cys) SNV Uncertain significance 845926 9:130258258-130258258 9:127495979-127495979 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.703A>G (p.Ser235Gly) SNV Uncertain significance 862138 11:10024153-10024153 11:10002606-10002606 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.2756G>C (p.Arg919Pro) SNV Uncertain significance 858781 11:68705794-68705794 11:68938326-68938326 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.2554C>T (p.Arg852Cys) SNV Uncertain significance 857016 12:110221488-110221488 12:109783683-109783683 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.338A>C (p.Gln113Pro) SNV Uncertain significance 910601 8:24813692-24813692 8:24956178-24956178 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.183A>G (p.Ser61=) SNV Uncertain significance 917109 1:10316381-10316381 1:10256323-10256323 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.4(NDRG1):c.634C>T (p.Arg212Cys) SNV Uncertain significance 908559 8:134262747-134262747 8:133250504-133250504 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.4(NDRG1):c.4T>G (p.Ser2Ala) SNV Uncertain significance 910371 8:134296551-134296551 8:133284308-133284308 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser) SNV Uncertain significance 892337 17:15134310-15134310 17:15230993-15230993 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.3901G>A (p.Gly1301Arg) SNV Uncertain significance 837973 19:40900358-40900358 19:40394451-40394451 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.1468C>T (p.Arg490Trp) SNV Uncertain significance 842630 19:40902791-40902791 19:40396884-40396884 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.574C>T (p.Arg192Trp) SNV Uncertain significance 861758 19:40903685-40903685 19:40397778-40397778 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.4(MED25):c.1090G>A (p.Ala364Thr) SNV Uncertain significance 855342 19:50334133-50334133 19:49830876-49830876 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.4(MED25):c.2192C>T (p.Pro731Leu) SNV Uncertain significance 841303 19:50340149-50340149 19:49836892-49836892 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.501G>T (p.Lys167Asn) SNV Uncertain significance 840624 X:70444058-70444058 X:71224208-71224208 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.425C>T (p.Pro142Leu) SNV Uncertain significance 881731 12:110246235-110246235 12:109808430-109808430 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.2376+2T>C SNV Uncertain significance 694987 6:110112776-110112776 6:109791573-109791573 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.1169+3G>A SNV Uncertain significance 695002 8:24811692-24811692 8:24954178-24954178 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.6222-4C>T SNV Uncertain significance 694846 14:102476609-102476609 14:102010272-102010272 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LITAF NM_001136473.1(LITAF):c.*17-48C>A SNV Uncertain significance 694879 16:11643649-11643649 16:11549793-11549793 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.319+16T>G SNV Uncertain significance 694891 17:15142772-15142772 17:15239455-15239455 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SEPTIN9 NM_001113491.2(SEPTIN9):c.19+4829C>A SNV Uncertain significance 694893 17:75282465-75282465 17:77286383-77286383 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SEPTIN9 NM_001113491.2(SEPTIN9):c.722-7T>C SNV Uncertain significance 694902 17:75478219-75478219 17:77482137-77482137 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SEPTIN9 NM_001113491.2(SEPTIN9):c.913+62_913+64delinsAGT indel Uncertain significance 694904 17:75478479-75478481 17:77482397-77482399 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SEPTIN9 NM_001113491.2(SEPTIN9):c.1476+2T>G SNV Uncertain significance 694906 17:75488800-75488800 17:77492718-77492718 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MORC2 NM_001303256.3(MORC2):c.227-8C>G SNV Uncertain significance 694962 22:31345836-31345836 22:30949850-30949850 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MORC2 NM_001303256.3(MORC2):c.158-4A>T SNV Uncertain significance 694963 22:31346435-31346435 22:30950449-30950449 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.2707A>G (p.Ile903Val) SNV Uncertain significance 694914 19:40901552-40901552 19:40395645-40395645 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.2612T>C (p.Val871Ala) SNV Uncertain significance 694916 19:40901647-40901647 19:40395740-40395740 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.2611G>C (p.Val871Leu) SNV Uncertain significance 694917 19:40901648-40901648 19:40395741-40395741 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.381+22C>A SNV Uncertain significance 694923 19:40904505-40904505 19:40398598-40398598 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MORC2 NM_001303256.3(MORC2):c.1229T>G (p.Val410Gly) SNV Uncertain significance 694958 22:31333942-31333942 22:30937955-30937955 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MORC2 NM_001303256.3(MORC2):c.1217C>T (p.Ala406Val) SNV Uncertain significance 694959 22:31333954-31333954 22:30937967-30937967 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MORC2 NM_001303256.3(MORC2):c.1033G>A (p.Glu345Lys) SNV Uncertain significance 694960 22:31335648-31335648 22:30939661-30939661 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MORC2 NM_001303256.3(MORC2):c.743A>G (p.Tyr248Cys) SNV Uncertain significance 694961 22:31337501-31337501 22:30941514-30941514 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.1287+2T>G SNV Uncertain significance 694950 1:12064177-12064177 1:12004120-12004120 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.280-1334dup duplication Uncertain significance 694978 5:148425526-148425527 5:149045963-149045964 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.1189G>A (p.Ala397Thr) SNV Uncertain significance 694266 12:57894201-57894201 12:57500418-57500418 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.65A>G (p.Lys22Arg) SNV Uncertain significance 694925 1:10292451-10292451 1:10232393-10232393 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.398A>G (p.Asn133Ser) SNV Uncertain significance 694926 1:10321997-10321997 1:10261939-10261939 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.2115+6205C>G SNV Uncertain significance 694927 1:10363509-10363509 1:10303451-10303451 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.2115+6385G>A SNV Uncertain significance 694928 1:10363689-10363689 1:10303631-10303631 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.2115+6425T>C SNV Uncertain significance 694929 1:10363729-10363729 1:10303671-10303671 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.2115+6548G>A SNV Uncertain significance 694930 1:10363852-10363852 1:10303794-10303794 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.2115+7103A>G SNV Uncertain significance 694931 1:10364407-10364407 1:10304349-10304349 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.2115+7308A>C SNV Uncertain significance 694934 1:10364612-10364612 1:10304554-10304554 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.3020G>A (p.Arg1007His) SNV Uncertain significance 694936 1:10394673-10394673 1:10334615-10334615 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.3991G>T (p.Asp1331Tyr) SNV Uncertain significance 694937 1:10412730-10412730 1:10352672-10352672 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.4165C>A (p.Leu1389Ile) SNV Uncertain significance 694938 1:10421096-10421096 1:10361038-10361038 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.4516G>A (p.Glu1506Lys) SNV Uncertain significance 694939 1:10425470-10425470 1:10365412-10365412 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.4525dup (p.Arg1509fs) duplication Uncertain significance 694940 1:10425476-10425477 1:10365418-10365419 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.5419T>C (p.Ser1807Pro) SNV Uncertain significance 694941 1:10436613-10436613 1:10376555-10376555 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.346A>T (p.Asn116Tyr) SNV Uncertain significance 917381 1:161276600-161276600 1:161306810-161306810 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.319T>A (p.Trp107Arg) SNV Uncertain significance 917376 1:161276627-161276627 1:161306837-161306837 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.208C>A (p.Pro70Thr) SNV Uncertain significance 917380 1:161277074-161277074 1:161307284-161307284 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.704A>G (p.Lys235Arg) SNV Uncertain significance 917148 1:161275709-161275709 1:161305919-161305919 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.659A>G (p.Tyr220Cys) SNV Uncertain significance 917379 1:161275754-161275754 1:161305964-161305964 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.612G>C (p.Lys204Asn) SNV Uncertain significance 917378 1:161275931-161275931 1:161306141-161306141 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.569T>C (p.Leu190Pro) SNV Uncertain significance 917377 1:161276134-161276134 1:161306344-161306344 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.551T>C (p.Leu184Pro) SNV Uncertain significance 917147 1:161276152-161276152 1:161306362-161306362 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNAJB2 NM_006736.6(DNAJB2):c.868C>G (p.Gln290Glu) SNV Uncertain significance 916948 2:220149602-220149602 2:219284880-219284880 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.149G>C (p.Cys50Ser) SNV Uncertain significance 917382 1:161277133-161277133 1:161307343-161307343 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TTR NM_000371.4(TTR):c.11A>T (p.His4Leu) SNV Uncertain significance 803480 18:29171876-29171876 18:31591913-31591913 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.2554G>A (p.Val852Met) SNV Uncertain significance 917196 5:148406741-148406741 5:149027178-149027178 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.2433G>T (p.Gln811His) SNV Uncertain significance 917193 5:148406862-148406862 5:149027299-149027299 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.2317C>T (p.Pro773Ser) SNV Uncertain significance 917281 5:148406978-148406978 5:149027415-149027415 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.2275C>A (p.Leu759Met) SNV Uncertain significance 917270 5:148407020-148407020 5:149027457-149027457 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.2263A>G (p.Thr755Ala) SNV Uncertain significance 917194 5:148407032-148407032 5:149027469-149027469 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy RAB7A NM_004637.6(RAB7A):c.331A>G (p.Ser111Gly) SNV Uncertain significance 917244 3:128525365-128525365 3:128806522-128806522 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.3856C>G (p.Leu1286Val) SNV Uncertain significance 917279 5:148384285-148384285 5:149004722-149004722 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.3818G>A (p.Cys1273Tyr) SNV Uncertain significance 916956 5:148384323-148384323 5:149004760-149004760 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.3773A>G (p.Asp1258Gly) SNV Uncertain significance 916952 5:148384368-148384368 5:149004805-149004805 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.3650G>A (p.Gly1217Asp) SNV Uncertain significance 917271 5:148386469-148386469 5:149006906-149006906 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.3616G>A (p.Ala1206Thr) SNV Uncertain significance 916846 5:148386503-148386503 5:149006940-149006940 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.3296G>A (p.Arg1099His) SNV Uncertain significance 917191 5:148389864-148389864 5:149010301-149010301 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.2962C>A (p.Leu988Met) SNV Uncertain significance 917195 5:148406226-148406226 5:149026663-149026663 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.2873G>A (p.Ser958Asn) SNV Uncertain significance 917273 5:148406315-148406315 5:149026752-149026752 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.2818C>A (p.Leu940Ile) SNV Uncertain significance 917282 5:148406477-148406477 5:149026914-149026914 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.4256G>A (p.Arg1419His) SNV Uncertain significance 917108 1:10421835-10421835 1:10361777-10361777 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.4298C>T (p.Pro1433Leu) SNV Uncertain significance 917104 1:10421877-10421877 1:10361819-10361819 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.4409C>T (p.Ala1470Val) SNV Uncertain significance 917105 1:10425200-10425200 1:10365142-10365142 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.4810G>A (p.Val1604Ile) SNV Uncertain significance 917107 1:10428582-10428582 1:10368524-10368524 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.4844T>C (p.Ile1615Thr) SNV Uncertain significance 917110 1:10431218-10431218 1:10371160-10371160 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.4966C>T (p.Arg1656Trp) SNV Uncertain significance 917338 1:10434393-10434393 1:10374335-10374335 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.5231T>C (p.Ile1744Thr) SNV Uncertain significance 917337 1:10435046-10435046 1:10374988-10374988 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.5332C>G (p.Leu1778Val) SNV Uncertain significance 917334 1:10435355-10435355 1:10375297-10375297 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.159C>G (p.Ser53Arg) SNV Uncertain significance 917371 1:12049384-12049384 1:11989327-11989327 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.262A>G (p.Ile88Val) SNV Uncertain significance 917369 1:12052698-12052698 1:11992641-11992641 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.628G>C (p.Asp210His) SNV Uncertain significance 916787 1:12058855-12058855 1:11998798-11998798 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.692C>G (p.Ser231Cys) SNV Uncertain significance 917374 1:12058919-12058919 1:11998862-11998862 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.757A>T (p.Ile253Phe) SNV Uncertain significance 917366 1:12059093-12059093 1:11999036-11999036 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.796G>A (p.Glu266Lys) SNV Uncertain significance 917372 1:12059132-12059132 1:11999075-11999075 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.802G>A (p.Glu268Lys) SNV Uncertain significance 917373 1:12059138-12059138 1:11999081-11999081 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.913T>G (p.Ser305Ala) SNV Uncertain significance 916786 1:12061554-12061554 1:12001497-12001497 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.946A>G (p.Lys316Glu) SNV Uncertain significance 917365 1:12061587-12061587 1:12001530-12001530 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.710C>T (p.Ser237Phe) SNV Uncertain significance 917111 1:10328311-10328311 1:10268253-10268253 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.1427G>T (p.Arg476Leu) SNV Uncertain significance 917335 1:10342584-10342584 1:10282526-10282526 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.1629G>T (p.Met543Ile) SNV Uncertain significance 917106 1:10355182-10355182 1:10295124-10295124 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.1945_1947del (p.Ser649del) deletion Uncertain significance 917339 1:10357036-10357038 1:10296978-10296980 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.1958C>A (p.Pro653His) SNV Uncertain significance 917341 1:10357051-10357051 1:10296993-10296993 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.3229C>T (p.Pro1077Ser) SNV Uncertain significance 917340 1:10397231-10397231 1:10337173-10337173 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.1488C>A (p.Asp496Glu) SNV Uncertain significance 917367 1:12064977-12064977 1:12004920-12004920 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.2093A>G (p.His698Arg) SNV Uncertain significance 917364 1:12069672-12069672 1:12009615-12009615 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.2120_2128del (p.Arg707_Asn709del) deletion Uncertain significance 917375 1:12069697-12069705 1:12009640-12009648 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.2171T>G (p.Leu724Arg) SNV Uncertain significance 917363 1:12069750-12069750 1:12009693-12009693 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.583A>C (p.Asn195His) SNV Uncertain significance 916764 1:156104263-156104263 1:156134472-156134472 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1639G>A (p.Val547Met) SNV Uncertain significance 916765 1:156107475-156107475 1:156137684-156137684 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.202G>A (p.Gly68Ser) SNV Uncertain significance 916876 6:110037684-110037684 6:109716481-109716481 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.799G>C (p.Val267Leu) SNV Uncertain significance 916873 6:110062670-110062670 6:109741467-109741467 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.1122C>G (p.Ile374Met) SNV Uncertain significance 916878 6:110064960-110064960 6:109743757-109743757 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.1334G>A (p.Gly445Asp) SNV Uncertain significance 916872 6:110083356-110083356 6:109762153-109762153 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.2116G>T (p.Val706Phe) SNV Uncertain significance 916879 6:110110816-110110816 6:109789613-109789613 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.1763A>G (p.Gln588Arg) SNV Uncertain significance 916875 6:110098137-110098137 6:109776934-109776934 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.1794C>A (p.Phe598Leu) SNV Uncertain significance 916871 6:110098168-110098168 6:109776965-109776965 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.2327C>G (p.Ser776Cys) SNV Uncertain significance 916877 6:110112725-110112725 6:109791522-109791522 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.2441A>T (p.Asp814Val) SNV Uncertain significance 916870 6:110113849-110113849 6:109792646-109792646 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.2036T>G (p.Leu679Arg) SNV Uncertain significance 916950 5:148407259-148407259 5:149027696-149027696 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.1748G>C (p.Arg583Thr) SNV Uncertain significance 916955 5:148407547-148407547 5:149027984-149027984 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.620C>T (p.Ser207Leu) SNV Uncertain significance 917274 5:148421090-148421090 5:149041527-149041527 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.229C>T (p.Arg77Trp) SNV Uncertain significance 917276 5:148427475-148427475 5:149047912-149047912 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.214G>A (p.Glu72Lys) SNV Uncertain significance 916951 5:148427490-148427490 5:149047927-149047927 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.192G>T (p.Arg64Ser) SNV Uncertain significance 917275 5:148427512-148427512 5:149047949-149047949 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.1583C>T (p.Ala528Val) SNV Uncertain significance 916844 5:148407712-148407712 5:149028149-149028149 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.1436A>G (p.Tyr479Cys) SNV Uncertain significance 917269 5:148407859-148407859 5:149028296-149028296 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.1405C>T (p.Pro469Ser) SNV Uncertain significance 916953 5:148407890-148407890 5:149028327-149028327 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.1349C>T (p.Pro450Leu) SNV Uncertain significance 916845 5:148407946-148407946 5:149028383-149028383 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.1322T>C (p.Leu441Pro) SNV Uncertain significance 917280 5:148407973-148407973 5:149028410-149028410 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.1306T>A (p.Ser436Thr) SNV Uncertain significance 917192 5:148407989-148407989 5:149028426-149028426 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.1168G>T (p.Asp390Tyr) SNV Uncertain significance 917277 5:148408249-148408249 5:149028686-149028686 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.1163C>T (p.Pro388Leu) SNV Uncertain significance 917278 5:148408254-148408254 5:149028691-149028691 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.1096A>G (p.Thr366Ala) SNV Uncertain significance 917272 5:148411156-148411156 5:149031593-149031593 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.967C>T (p.Arg323Trp) SNV Uncertain significance 916900 8:24813063-24813063 8:24955549-24955549 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.1008_1010GGA[1] (p.Glu337del) short repeat Uncertain significance 916812 8:24813017-24813019 8:24955503-24955505 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.4(NDRG1):c.895G>A (p.Ala299Thr) SNV Uncertain significance 917150 8:134254314-134254314 8:133242071-133242071 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.4(NDRG1):c.12G>T (p.Glu4Asp) SNV Uncertain significance 917152 8:134296543-134296543 8:133284300-133284300 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.*2C>A SNV Uncertain significance 916809 8:24810321-24810321 8:24952808-24952808 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.1276G>A (p.Gly426Ser) SNV Uncertain significance 916807 8:24811203-24811203 8:24953689-24953689 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.1245C>G (p.Ser415Arg) SNV Uncertain significance 916901 8:24811234-24811234 8:24953720-24953720 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.1196G>C (p.Arg399Pro) SNV Uncertain significance 916808 8:24811283-24811283 8:24953769-24953769 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.1193C>A (p.Thr398Asn) SNV Uncertain significance 916811 8:24811286-24811286 8:24953772-24953772 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.1123C>T (p.Leu375Phe) SNV Uncertain significance 916899 8:24811741-24811741 8:24954227-24954227 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.2206A>C (p.Thr736Pro) SNV Uncertain significance 917317 7:30673462-30673462 7:30633846-30633846 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1426A>T (p.Thr476Ser) SNV Uncertain significance 917315 7:30661075-30661075 7:30621459-30621459 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1429A>G (p.Lys477Glu) SNV Uncertain significance 917316 7:30661078-30661078 7:30621462-30621462 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.349G>A (p.Val117Met) SNV Uncertain significance 916735 7:75932378-75932378 7:76303061-76303061 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.368A>C (p.Lys123Thr) SNV Uncertain significance 917326 7:75933122-75933122 7:76303805-76303805 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.4(NDRG1):c.1081C>G (p.Arg361Gly) SNV Uncertain significance 917151 8:134251225-134251225 8:133238982-133238982 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.4(NDRG1):c.706G>A (p.Asp236Asn) SNV Uncertain significance 917149 8:134261007-134261007 8:133248764-133248764 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.4(NDRG1):c.637C>A (p.Gln213Lys) SNV Uncertain significance 916898 8:134262744-134262744 8:133250501-133250501 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.4(NDRG1):c.635G>A (p.Arg212His) SNV Uncertain significance 917153 8:134262746-134262746 8:133250503-133250503 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.4(NDRG1):c.488T>C (p.Ile163Thr) SNV Uncertain significance 916897 8:134269069-134269069 8:133256826-133256826 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.1782_1783del (p.Gly595fs) deletion Uncertain significance 917067 12:110230498-110230499 12:109792693-109792694 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.1175G>A (p.Arg392Gln) SNV Uncertain significance 916986 12:110234487-110234487 12:109796682-109796682 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.1174C>T (p.Arg392Trp) SNV Uncertain significance 916985 12:110234488-110234488 12:109796683-109796683 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.1039G>A (p.Asp347Asn) SNV Uncertain significance 916987 12:110236532-110236532 12:109798727-109798727 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.913T>C (p.Cys305Arg) SNV Uncertain significance 916940 11:10019875-10019875 11:9998328-9998328 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.2615A>G (p.Ter872Trp) SNV Uncertain significance 916988 12:110221427-110221427 12:109783622-109783622 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.2042G>A (p.Gly681Asp) SNV Uncertain significance 916861 12:110226371-110226371 12:109788566-109788566 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.796G>C (p.Ala266Pro) SNV Uncertain significance 916990 12:110238480-110238480 12:109800675-109800675 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.403C>T (p.Pro135Ser) SNV Uncertain significance 916859 12:110246257-110246257 12:109808452-109808452 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.20G>A (p.Gly7Asp) SNV Uncertain significance 916984 12:110252582-110252582 12:109814777-109814777 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.-16C>T SNV Uncertain significance 916989 12:110252617-110252617 12:109814812-109814812 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.263G>A (p.Cys88Tyr) SNV Uncertain significance 917065 12:32735064-32735064 12:32582130-32582130 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.331G>C (p.Glu111Gln) SNV Uncertain significance 917043 12:57883258-57883258 12:57489475-57489475 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.352C>T (p.Arg118Trp) SNV Uncertain significance 917041 12:57883279-57883279 12:57489496-57489496 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.986C>T (p.Pro329Leu) SNV Uncertain significance 917128 12:57892301-57892301 12:57498518-57498518 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.988C>A (p.Gln330Lys) SNV Uncertain significance 917038 12:57892303-57892303 12:57498520-57498520 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.1073C>G (p.Thr358Ser) SNV Uncertain significance 917034 12:57892388-57892388 12:57498605-57498605 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.1172A>G (p.His391Arg) SNV Uncertain significance 917126 12:57894184-57894184 12:57500401-57500401 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.1234G>A (p.Glu412Lys) SNV Uncertain significance 917029 12:57894246-57894246 12:57500463-57500463 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.1241G>A (p.Arg414Gln) SNV Uncertain significance 917031 12:57894253-57894253 12:57500470-57500470 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.1316G>A (p.Arg439Gln) SNV Uncertain significance 917040 12:57898030-57898030 12:57504247-57504247 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.1340G>A (p.Ser447Asn) SNV Uncertain significance 917042 12:57898054-57898054 12:57504271-57504271 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.1427C>A (p.Pro476His) SNV Uncertain significance 917037 12:57905539-57905539 12:57511756-57511756 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.1430A>G (p.Asn477Ser) SNV Uncertain significance 917033 12:57905542-57905542 12:57511759-57511759 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.1448G>A (p.Arg483His) SNV Uncertain significance 917036 12:57905560-57905560 12:57511777-57511777 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.1630G>A (p.Val544Ile) SNV Uncertain significance 917064 12:32777997-32777997 12:32625063-32625063 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.1873C>T (p.Arg625Trp) SNV Uncertain significance 917127 12:57906653-57906653 12:57512870-57512870 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.2024C>G (p.Thr675Ser) SNV Uncertain significance 917035 12:57908559-57908559 12:57514776-57514776 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.2605G>C (p.Val869Leu) SNV Uncertain significance 917030 12:57910266-57910266 12:57516483-57516483 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.2609C>T (p.Ala870Val) SNV Uncertain significance 917039 12:57910270-57910270 12:57516487-57516487 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.702T>G (p.Asp234Glu) SNV Uncertain significance 917205 14:102446239-102446239 14:101979902-101979902 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.6(MTMR2):c.*17G>A SNV Uncertain significance 916794 11:95568437-95568437 11:95835273-95835273 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.6(MTMR2):c.1915G>T (p.Val639Phe) SNV Uncertain significance 916796 11:95568471-95568471 11:95835307-95835307 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.6(MTMR2):c.841A>G (p.Ile281Val) SNV Uncertain significance 916795 11:95582990-95582990 11:95849826-95849826 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.6(MTMR2):c.139T>C (p.Ser47Pro) SNV Uncertain significance 916797 11:95621367-95621367 11:95888203-95888203 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.6(MTMR2):c.-15T>C SNV Uncertain significance 916793 11:95657133-95657133 11:95923969-95923969 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.4981C>G (p.Gln1661Glu) SNV Uncertain significance 916836 11:9809237-9809237 11:9787690-9787690 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.4384A>T (p.Asn1462Tyr) SNV Uncertain significance 916935 11:9829606-9829606 11:9808059-9808059 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.4355A>G (p.Lys1452Arg) SNV Uncertain significance 916939 11:9829635-9829635 11:9808088-9808088 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.4332A>C (p.Lys1444Asn) SNV Uncertain significance 916839 11:9829658-9829658 11:9808111-9808111 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.3668T>C (p.Leu1223Ser) SNV Uncertain significance 916931 11:9851028-9851028 11:9829481-9829481 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.3518G>A (p.Arg1173His) SNV Uncertain significance 916936 11:9853905-9853905 11:9832358-9832358 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.3386G>C (p.Ser1129Thr) SNV Uncertain significance 916929 11:9861114-9861114 11:9839567-9839567 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.3383G>A (p.Gly1128Asp) SNV Uncertain significance 916835 11:9861117-9861117 11:9839570-9839570 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.3316A>G (p.Met1106Val) SNV Uncertain significance 916933 11:9861184-9861184 11:9839637-9839637 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.3109C>T (p.Arg1037Cys) SNV Uncertain significance 916932 11:9867113-9867113 11:9845566-9845566 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.1632C>A (p.Phe544Leu) SNV Uncertain significance 916938 11:9985398-9985398 11:9963851-9963851 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.1563A>G (p.Ile521Met) SNV Uncertain significance 916930 11:9989925-9989925 11:9968378-9968378 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.1244G>T (p.Gly415Val) SNV Uncertain significance 916838 11:10014014-10014014 11:9992467-9992467 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.1015C>G (p.Pro339Ala) SNV Uncertain significance 916837 11:10015506-10015506 11:9993959-9993959 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.2524G>A (p.Val842Met) SNV Uncertain significance 916991 12:110221518-110221518 12:109783713-109783713 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.2507C>T (p.Ser836Leu) SNV Uncertain significance 916992 12:110221535-110221535 12:109783730-109783730 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.1302_1304AGA[1] (p.Glu436del) short repeat Uncertain significance 917297 9:94797113-94797115 9:92034831-92034833 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.1259T>C (p.Met420Thr) SNV Uncertain significance 917295 9:94797161-94797161 9:92034879-92034879 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.1043C>T (p.Ala348Val) SNV Uncertain significance 917294 9:94809492-94809492 9:92047210-92047210 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.1753C>G (p.His585Asp) SNV Uncertain significance 917121 9:130258297-130258297 9:127496018-127496018 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.1936G>T (p.Val646Phe) SNV Uncertain significance 917122 9:130263312-130263312 9:127501033-127501033 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.2140G>C (p.Val714Leu) SNV Uncertain significance 916954 5:148407155-148407155 5:149027592-149027592 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.207G>A (p.Met69Ile) SNV Uncertain significance 917003 8:75263598-75263598 8:74351363-74351363 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.362G>A (p.Arg121His) SNV Uncertain significance 917124 9:130223492-130223492 9:127461213-127461213 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.992C>T (p.Thr331Met) SNV Uncertain significance 917351 9:130242206-130242206 9:127479927-127479927 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.1198C>T (p.Arg400Trp) SNV Uncertain significance 917350 9:130248053-130248053 9:127485774-127485774 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.1261A>G (p.Met421Val) SNV Uncertain significance 917125 9:130249956-130249956 9:127487677-127487677 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.1419C>A (p.Ser473Arg) SNV Uncertain significance 917123 9:130251794-130251794 9:127489515-127489515 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.681T>A (p.Asn227Lys) SNV Uncertain significance 917002 8:75275275-75275275 8:74363040-74363040 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.304G>T (p.Ala102Ser) SNV Uncertain significance 916810 8:24813726-24813726 8:24956212-24956212 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.235A>G (p.Ile79Val) SNV Uncertain significance 916806 8:24813795-24813795 8:24956281-24956281 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.4G>A (p.Ala2Thr) SNV Uncertain significance 917004 8:75262700-75262700 8:74350465-74350465 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.28G>A (p.Gly10Arg) SNV Uncertain significance 917001 8:75262724-75262724 8:74350489-74350489 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.442T>G (p.Leu148Val) SNV Uncertain significance 917296 9:94830366-94830366 9:92068084-92068084 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.100T>G (p.Trp34Gly) SNV Uncertain significance 917298 9:94874802-94874802 9:92112520-92112520 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy EGR2 NM_000399.5(EGR2):c.1183G>C (p.Glu395Gln) SNV Uncertain significance 916980 10:64573215-64573215 10:62813455-62813455 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy EGR2 NM_000399.5(EGR2):c.938A>G (p.His313Arg) SNV Uncertain significance 916981 10:64573460-64573460 10:62813700-62813700 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy EGR2 NM_000399.5(EGR2):c.733G>A (p.Asp245Asn) SNV Uncertain significance 916982 10:64573665-64573665 10:62813905-62813905 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.876C>G (p.His292Gln) SNV Uncertain significance 917292 9:94812254-94812254 9:92049972-92049972 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.640A>C (p.Met214Leu) SNV Uncertain significance 917293 9:94821511-94821511 9:92059229-92059229 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.808A>G (p.Thr270Ala) SNV Uncertain significance 916934 11:10022514-10022514 11:10000967-10000967 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.266A>C (p.Glu89Ala) SNV Uncertain significance 916937 11:10064404-10064404 11:10042857-10042857 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.185G>A (p.Arg62Gln) SNV Uncertain significance 917010 11:68673635-68673635 11:68906167-68906167 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.191T>C (p.Leu64Pro) SNV Uncertain significance 917015 11:68673641-68673641 11:68906173-68906173 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.212G>T (p.Arg71Leu) SNV Uncertain significance 917100 11:68673662-68673662 11:68906194-68906194 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.455T>C (p.Leu152Pro) SNV Uncertain significance 917098 11:68676007-68676007 11:68908539-68908539 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.551C>T (p.Pro184Leu) SNV Uncertain significance 917014 11:68678911-68678911 11:68911443-68911443 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.728C>G (p.Pro243Arg) SNV Uncertain significance 917017 11:68682307-68682307 11:68914839-68914839 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.1448A>T (p.Glu483Val) SNV Uncertain significance 917016 11:68701292-68701292 11:68933824-68933824 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.1547G>A (p.Arg516His) SNV Uncertain significance 917012 11:68701941-68701941 11:68934473-68934473 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.1605T>G (p.Ile535Met) SNV Uncertain significance 917095 11:68701999-68701999 11:68934531-68934531 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.1795G>A (p.Val599Met) SNV Uncertain significance 917019 11:68703743-68703743 11:68936275-68936275 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.1807C>G (p.Arg603Gly) SNV Uncertain significance 917013 11:68703755-68703755 11:68936287-68936287 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.4G>A (p.Ala2Thr) SNV Uncertain significance 917101 11:68671424-68671424 11:68903956-68903956 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.338C>T (p.Ser113Leu) SNV Uncertain significance 917097 11:68675694-68675694 11:68908226-68908226 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.2492G>C (p.Arg831Thr) SNV Uncertain significance 917011 11:68704440-68704440 11:68936972-68936972 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.2548A>G (p.Ser850Gly) SNV Uncertain significance 917018 11:68704496-68704496 11:68937028-68937028 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.2687C>T (p.Thr896Ile) SNV Uncertain significance 917096 11:68705725-68705725 11:68938257-68938257 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.3928C>T (p.Arg1310Trp) SNV Uncertain significance 917168 19:40900331-40900331 19:40394424-40394424 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.3920G>C (p.Arg1307Pro) SNV Uncertain significance 916915 19:40900339-40900339 19:40394432-40394432 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.3857G>A (p.Gly1286Asp) SNV Uncertain significance 917166 19:40900402-40900402 19:40394495-40394495 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.3809G>A (p.Arg1270His) SNV Uncertain significance 917235 19:40900450-40900450 19:40394543-40394543 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.3767T>G (p.Val1256Gly) SNV Uncertain significance 916823 19:40900492-40900492 19:40394585-40394585 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.3715G>T (p.Gly1239Cys) SNV Uncertain significance 917239 19:40900544-40900544 19:40394637-40394637 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.3424G>A (p.Gly1142Arg) SNV Uncertain significance 916912 19:40900835-40900835 19:40394928-40394928 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.3374G>T (p.Gly1125Val) SNV Uncertain significance 916921 19:40900885-40900885 19:40394978-40394978 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.3322G>A (p.Glu1108Lys) SNV Uncertain significance 917173 19:40900937-40900937 19:40395030-40395030 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.3241G>A (p.Ala1081Thr) SNV Uncertain significance 917231 19:40901018-40901018 19:40395111-40395111 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.3239G>A (p.Arg1080His) SNV Uncertain significance 916919 19:40901020-40901020 19:40395113-40395113 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.3060G>T (p.Arg1020Ser) SNV Uncertain significance 916827 19:40901199-40901199 19:40395292-40395292 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.2908C>T (p.Arg970Trp) SNV Uncertain significance 917238 19:40901351-40901351 19:40395444-40395444 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.2816C>T (p.Ser939Leu) SNV Uncertain significance 917234 19:40901443-40901443 19:40395536-40395536 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.2628G>A (p.Met876Ile) SNV Uncertain significance 916918 19:40901631-40901631 19:40395724-40395724 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.2297T>C (p.Val766Ala) SNV Uncertain significance 917236 19:40901962-40901962 19:40396055-40396055 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.2252C>T (p.Ser751Leu) SNV Uncertain significance 916911 19:40902007-40902007 19:40396100-40396100 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.2245A>C (p.Lys749Gln) SNV Uncertain significance 917242 19:40902014-40902014 19:40396107-40396107 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.2173C>T (p.Pro725Ser) SNV Uncertain significance 917237 19:40902086-40902086 19:40396179-40396179 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.1834G>A (p.Ala612Thr) SNV Uncertain significance 916917 19:40902425-40902425 19:40396518-40396518 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.1797A>T (p.Lys599Asn) SNV Uncertain significance 917170 19:40902462-40902462 19:40396555-40396555 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.1684G>A (p.Val562Met) SNV Uncertain significance 916908 19:40902575-40902575 19:40396668-40396668 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.1678T>C (p.Ser560Pro) SNV Uncertain significance 916909 19:40902581-40902581 19:40396674-40396674 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.1672G>A (p.Glu558Lys) SNV Uncertain significance 916910 19:40902587-40902587 19:40396680-40396680 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.238_243CTGTTC[1] (p.80_81LF[1]) short repeat Uncertain significance 917229 17:15142858-15142863 17:15239541-15239546 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.4335_4336del (p.Ala1447fs) deletion Uncertain significance 917233 19:40899923-40899924 19:40394016-40394017 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.4274G>C (p.Ser1425Thr) SNV Uncertain significance 916914 19:40899985-40899985 19:40394078-40394078 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.4199A>G (p.Lys1400Arg) SNV Uncertain significance 916826 19:40900060-40900060 19:40394153-40394153 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.4180G>A (p.Glu1394Lys) SNV Uncertain significance 917241 19:40900079-40900079 19:40394172-40394172 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.13609G>A (p.Glu4537Lys) SNV Uncertain significance 917264 14:102516144-102516144 14:102049807-102049807 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LITAF NM_001136473.1(LITAF):c.269G>A (p.Arg90His) SNV Uncertain significance 917116 16:11647497-11647497 16:11553641-11553641 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LITAF NM_001136473.1(LITAF):c.199C>T (p.Pro67Ser) SNV Uncertain significance 917347 16:11650388-11650388 16:11556532-11556532 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.467T>C (p.Leu156Ser) SNV Uncertain significance 917226 17:15134250-15134250 17:15230933-15230933 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.397G>A (p.Gly133Ser) SNV Uncertain significance 917228 17:15134320-15134320 17:15231003-15231003 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.5580A>T (p.Gln1860His) SNV Uncertain significance 917210 14:102472371-102472371 14:102006034-102006034 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.3844A>G (p.Ile1282Val) SNV Uncertain significance 917206 14:102466365-102466365 14:102000028-102000028 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.4264G>A (p.Val1422Ile) SNV Uncertain significance 917207 14:102467560-102467560 14:102001223-102001223 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.4959C>A (p.His1653Gln) SNV Uncertain significance 917208 14:102470930-102470930 14:102004593-102004593 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.4963A>C (p.Lys1655Gln) SNV Uncertain significance 917209 14:102470934-102470934 14:102004597-102004597 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.11803G>A (p.Val3935Met) SNV Uncertain significance 917261 14:102506685-102506685 14:102040348-102040348 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.12250A>G (p.Ile4084Val) SNV Uncertain significance 917262 14:102508600-102508600 14:102042263-102042263 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.12651T>G (p.Asp4217Glu) SNV Uncertain significance 917263 14:102510349-102510349 14:102044012-102044012 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.573C>T (p.Thr191=) SNV Uncertain significance 917094 X:70444130-70444130 X:71224280-71224280 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.4(MED25):c.1594G>A (p.Gly532Ser) SNV Uncertain significance 917362 19:50338354-50338354 19:49835097-49835097 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AIFM1 NM_004208.4(AIFM1):c.1627A>G (p.Ile543Val) SNV Uncertain significance 916843 X:129264088-129264088 X:130130113-130130113 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.959-16T>A SNV Uncertain significance 917336 1:10336363-10336363 1:10276305-10276305 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AIFM1 NM_004208.4(AIFM1):c.513G>A (p.Met171Ile) SNV Uncertain significance 916942 X:129281560-129281560 X:130147585-130147585 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PDK3 NM_005391.5(PDK3):c.467C>T (p.Thr156Ile) SNV Uncertain significance 917162 X:24521590-24521590 X:24503473-24503473 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PDK3 NM_005391.5(PDK3):c.1115_1116delinsAG (p.Phe372Ter) indel Uncertain significance 917161 X:24552083-24552084 X:24533966-24533967 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.3259+3A>C SNV Uncertain significance 917103 1:10397264-10397264 1:10337206-10337206 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.1393-8G>A SNV Uncertain significance 917370 1:12064874-12064874 1:12004817-12004817 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.4(MED25):c.125C>T (p.Pro42Leu) SNV Uncertain significance 916779 19:50321723-50321723 19:49818466-49818466 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.4(MED25):c.249A>C (p.Gln83His) SNV Uncertain significance 916777 19:50322497-50322497 19:49819240-49819240 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.4(MED25):c.413C>T (p.Thr138Met) SNV Uncertain significance 916778 19:50332235-50332235 19:49828978-49828978 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.4(MED25):c.557G>A (p.Arg186Gln) SNV Uncertain significance 917361 19:50333074-50333074 19:49829817-49829817 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.4(MED25):c.807_809del (p.Pro270del) deletion Uncertain significance 916780 19:50333460-50333462 19:49830203-49830205 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.4(MED25):c.2045C>T (p.Pro682Leu) SNV Uncertain significance 916776 19:50339562-50339562 19:49836305-49836305 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.182A>G (p.Glu61Gly) SNV Uncertain significance 917171 19:40909615-40909615 19:40403708-40403708 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.158C>A (p.Ala53Asp) SNV Uncertain significance 916923 19:40909639-40909639 19:40403732-40403732 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.44A>G (p.Glu15Gly) SNV Uncertain significance 916824 19:40909753-40909753 19:40403846-40403846 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.17G>T (p.Arg6Leu) SNV Uncertain significance 916913 19:40913823-40913823 19:40407916-40407916 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.10A>G (p.Arg4Gly) SNV Uncertain significance 916922 19:40913830-40913830 19:40407923-40407923 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.1490_1491delinsTG (p.Pro497Leu) indel Uncertain significance 917169 19:40902768-40902769 19:40396861-40396862 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.1490C>T (p.Pro497Leu) SNV Uncertain significance 916920 19:40902769-40902769 19:40396862-40396862 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.1333C>G (p.Pro445Ala) SNV Uncertain significance 917174 19:40902926-40902926 19:40397019-40397019 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.1206G>T (p.Glu402Asp) SNV Uncertain significance 917167 19:40903053-40903053 19:40397146-40397146 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.1136A>C (p.Lys379Thr) SNV Uncertain significance 917230 19:40903123-40903123 19:40397216-40397216 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.832_861del (p.Pro278_Ala287del) deletion Uncertain significance 917232 19:40903398-40903427 19:40397491-40397520 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.680C>T (p.Ala227Val) SNV Uncertain significance 916828 19:40903579-40903579 19:40397672-40397672 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.617G>A (p.Arg206Gln) SNV Uncertain significance 917240 19:40903642-40903642 19:40397735-40397735 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.556C>T (p.Arg186Trp) SNV Uncertain significance 917172 19:40903703-40903703 19:40397796-40397796 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.335_340del (p.Val112_Ser113del) deletion Uncertain significance 916916 19:40904568-40904573 19:40398661-40398666 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LITAF NM_001136473.1(LITAF):c.*69G>A SNV Uncertain significance 6061 rs121908615 16:11643549-11643549 16:11549693-11549693 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PDK3 NM_005391.5(PDK3):c.1077+4C>T SNV Uncertain significance 917160 X:24549891-24549891 X:24531774-24531774 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) SNV Uncertain significance 9208 rs137852647 7:30665896-30665896 7:30626280-30626280 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DCTN1 NM_004082.4(DCTN1):c.2353C>T (p.Arg785Trp) SNV Uncertain significance 8404 rs121909344 2:74594023-74594023 2:74366896-74366896 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy POLG NM_001126131.2(POLG):c.1491G>C (p.Gln497His) SNV Uncertain significance 13510 rs121918052 15:89870237-89870237 15:89327006-89327006 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TTR NM_000371.3(TTR):c.386C>T (p.Ala129Val) SNV Uncertain significance 13454 rs121918092 18:29178580-29178580 18:31598617-31598617 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.179-13C>G SNV Uncertain significance 917227 17:15142941-15142941 17:15239624-15239624 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.1368+3A>T SNV Uncertain significance 917032 12:57898085-57898085 12:57504302-57504302 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.2336+1G>A SNV Uncertain significance 916860 12:110224514-110224514 12:109786709-109786709 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.712+1G>T SNV Uncertain significance 916983 12:110240795-110240795 12:109802990-109802990 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.691-5T>A SNV Uncertain significance 917066 12:32754207-32754207 12:32601273-32601273 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.253-9C>A SNV Uncertain significance 917352 9:130221273-130221273 9:127458994-127458994 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.2612-3C>T SNV Uncertain significance 917099 11:68705647-68705647 11:68938179-68938179 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.4097G>A (p.Gly1366Glu) SNV Uncertain significance 916825 19:40900162-40900162 19:40394255-40394255 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.3204+5G>A SNV Uncertain significance 916847 5:148392142-148392142 5:149012579-149012579 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.176-3C>T SNV Uncertain significance 917368 1:12052609-12052609 1:11992552-11992552 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1961G>A (p.Arg654Gln) SNV Uncertain significance 916766 1:156108541-156108541 1:156138750-156138750 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.498-13A>G SNV Uncertain significance 916869 6:110056340-110056340 6:109735137-109735137 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.1949-10T>G SNV Uncertain significance 916874 6:110107495-110107495 6:109786292-109786292 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.444C>T (p.Thr148=) SNV Likely benign 385552 rs373038884 1:12056345-12056345 1:11996288-11996288 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.870C>T (p.Gly290=) SNV Likely benign 390686 rs368302487 1:12061511-12061511 1:12001454-12001454 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1157+19G>A SNV Likely benign 379044 rs757715731 1:156105931-156105931 1:156136140-156136140 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1857T>C (p.Ser619=) SNV Likely benign 378090 rs368581237 1:156108437-156108437 1:156138646-156138646 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNAJB2 NM_006736.6(DNAJB2):c.787C>T (p.Leu263=) SNV Likely benign 377780 rs140805390 2:220149521-220149521 2:219284799-219284799 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNAJB2 NM_006736.6(DNAJB2):c.195C>T (p.Tyr65=) SNV Likely benign 377779 rs116719245 2:220146459-220146459 2:219281737-219281737 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNAJB2 NM_006736.6(DNAJB2):c.759G>A (p.Glu253=) SNV Likely benign 391179 rs775630178 2:220149493-220149493 2:219284771-219284771 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.548-20C>T SNV Likely benign 382642 rs368802434 11:68678888-68678888 11:68911420-68911420 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.3(NDRG1):c.393G>A (p.Leu131=) SNV Likely benign 380923 rs149767690 8:134270666-134270666 8:133258423-133258423 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2612-16C>T SNV Likely benign 379557 rs200337900 11:68705634-68705634 11:68938166-68938166 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1158C>T (p.Ser386=) SNV Likely benign 379179 rs373576697 7:30655638-30655638 7:30616022-30616022 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy RAB7A NM_004637.5(RAB7A):c.183A>C (p.Ile61=) SNV Likely benign 382127 rs376642691 3:128525217-128525217 3:128806374-128806374 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.2385C>T (p.Ser795=) SNV Likely benign 387819 rs145345364 5:148406910-148406910 5:149027347-149027347 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.3(NDRG1):c.973C>A (p.Arg325=) SNV Likely benign 385209 rs141078746 8:134251333-134251333 8:133239090-133239090 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.428-17C>T SNV Likely benign 377912 rs370452042 7:30640658-30640658 7:30601042-30601042 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2691C>T (p.Cys897=) SNV Likely benign 381270 rs146286133 11:68705729-68705729 11:68938261-68938261 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.1464C>T (p.Thr488=) SNV Likely benign 381035 rs146841400 12:110232161-110232161 12:109794356-109794356 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.11596-20G>A SNV Likely benign 386228 rs372623721 14:102505955-102505955 14:102039618-102039618 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.6619-19G>A SNV Likely benign 382362 rs747037096 14:102478193-102478193 14:102011856-102011856 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.2319G>A (p.Ala773=) SNV Likely benign 381048 rs201547070 11:9878049-9878049 11:9856502-9856502 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.13515+9G>A SNV Likely benign 382886 rs374678076 14:102515928-102515928 14:102049591-102049591 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1236-6G>A SNV Likely benign 385061 rs201538340 11:68700761-68700761 11:68933293-68933293 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1418+11C>T SNV Likely benign 377973 rs201279838 11:68700960-68700960 11:68933492-68933492 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.12513+17C>T SNV Likely benign 386750 rs368189529 14:102509102-102509102 14:102042765-102042765 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.1173A>G (p.Gln391=) SNV Likely benign 385969 rs17540735 14:102449567-102449567 14:101983230-101983230 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.903C>G (p.Val301=) SNV Likely benign 261421 rs748103823 12:110236668-110236668 12:109798863-109798863 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.3414C>T (p.Asn1138=) SNV Likely benign 258075 rs772761222 14:102461403-102461403 14:101995066-101995066 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.87-19A>G SNV Likely benign 258578 rs183650590 11:68673518-68673518 11:68906050-68906050 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.3498G>A (p.Pro1166=) SNV Likely benign 291571 rs140229905 1:10403293-10403293 1:10343235-10343235 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy EGR2 NM_000399.5(EGR2):c.-1A>G SNV Likely benign 300281 rs553201646 10:64575790-64575790 10:62816030-62816030 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.406+15G>T SNV Likely benign 365011 rs201808404 9:130223551-130223551 9:127461272-127461272 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2467C>T (p.Arg823Cys) SNV Likely benign 305855 rs192806153 11:68704415-68704415 11:68936947-68936947 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.5231+14C>T SNV Likely benign 306577 rs371184526 11:9806658-9806658 11:9785111-9785111 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.954C>T (p.Asn318=) SNV Likely benign 365022 rs200527839 9:130242168-130242168 9:127479889-127479889 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.1225C>G (p.Gln409Glu) SNV Likely benign 365027 rs149540339 9:130248080-130248080 9:127485801-127485801 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TTR NM_000371.3(TTR):c.70-19G>A SNV Likely benign 389548 rs548935944 18:29172840-29172840 18:31592877-31592877 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*4036C>G SNV Likely benign 391561 rs577796628 19:40900428-40900428 19:40394521-40394521 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*745G>A SNV Likely benign 379671 rs371243093 19:40903719-40903719 19:40397812-40397812 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.4074+11A>T SNV Likely benign 385074 rs368040742 14:102466747-102466747 14:102000410-102000410 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.10414-13G>A SNV Likely benign 387816 rs17541421 14:102500300-102500300 14:102033963-102033963 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.10908+10G>A SNV Likely benign 385990 rs201277756 14:102502989-102502989 14:102036652-102036652 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.5(MTMR2):c.279T>C (p.Tyr93=) SNV Likely benign 383870 rs372937811 11:95595514-95595514 11:95862350-95862350 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.887+17G>A SNV Likely benign 392138 rs201259473 12:57892073-57892073 12:57498290-57498290 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2545G>A (p.Ala849Thr) SNV Likely benign 258572 rs2228208 11:68704493-68704493 11:68937025-68937025 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.816A>G (p.Leu272=) SNV Likely benign 258539 rs777128525 7:30649281-30649281 7:30609665-30609665 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1737C>T (p.Phe579=) SNV Likely benign 258534 rs752464405 7:30668213-30668213 7:30628597-30628597 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2836C>T (p.Arg946Trp) SNV Likely benign 245633 rs373943338 11:68707053-68707053 11:68939585-68939585 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.664C>T (p.Leu222=) SNV Likely benign 215945 rs147538736 19:50333181-50333181 19:49829924-49829924 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy EGR2 NM_000399.5(EGR2):c.816C>A (p.Thr272=) SNV Likely benign 215735 rs863224359 10:64573582-64573582 10:62813822-62813822 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.723C>T (p.Phe241=) SNV Likely benign 220420 rs764912025 1:12059059-12059059 1:11999002-11999002 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1770C>T (p.Thr590=) SNV Likely benign 227505 rs397517896 1:156108350-156108350 1:156138559-156138559 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TTR NM_000371.4(TTR):c.337-13T>C SNV Likely benign 228190 rs762691667 18:29178518-29178518 18:31598555-31598555 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.486G>A (p.Leu162=) SNV Likely benign 163865 rs727503135 1:156100537-156100537 1:156130746-156130746 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.4(NEFL):c.423G>A (p.Gln141=) SNV Likely benign 66692 rs59161567 8:24813607-24813607 8:24956093-24956093 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.2180+20C>T SNV Likely benign 916998 6:110110900-110110900 6:109789697-109789697 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.1750+11A>C SNV Likely benign 917078 6:110088109-110088109 6:109766906-109766906 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1968+18dup duplication Likely benign 917027 1:156108563-156108564 1:156138772-156138773 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.645+10A>G SNV Likely benign 917387 1:161275888-161275888 1:161306098-161306098 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.447-16delinsTT indel Likely benign 917077 6:110053824-110053824 6:109732621-109732621 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.708+10C>T SNV Likely benign 916888 1:12058945-12058945 1:11998888-11998888 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.2043-4C>T SNV Likely benign 916758 1:10357228-10357228 1:10297170-10297170 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.2358+9C>T SNV Likely benign 916750 1:10381924-10381924 1:10321866-10321866 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.2537+15A>G SNV Likely benign 917344 1:10384135-10384135 1:10324077-10324077 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.53-17del deletion Likely benign 916969 5:148431820-148431820 5:149052257-149052257 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.52+4A>G SNV Likely benign 916970 5:148442530-148442530 5:149062967-149062967 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.66+18G>A SNV Likely benign 917073 6:110012722-110012722 6:109691519-109691519 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.289+17C>T SNV Likely benign 917075 6:110037788-110037788 6:109716585-109716585 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.2873-16C>T SNV Likely benign 916976 5:148406331-148406331 5:149026768-149026768 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.2873-17C>T SNV Likely benign 916979 5:148406332-148406332 5:149026769-149026769 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.1177+18T>A SNV Likely benign 917221 5:148408222-148408222 5:149028659-149028659 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.1136-12A>G SNV Likely benign 916851 5:148408293-148408293 5:149028730-149028730 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.731+17C>A SNV Likely benign 916848 5:148420962-148420962 5:149041399-149041399 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.280-4G>A SNV Likely benign 916977 5:148424205-148424205 5:149044642-149044642 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNAJB2 NM_006736.6(DNAJB2):c.352+20C>G SNV Likely benign 917198 2:220146803-220146803 2:219282081-219282081 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNAJB2 NM_006736.6(DNAJB2):c.353-9T>G SNV Likely benign 917199 2:220147550-220147550 2:219282828-219282828 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNAJB2 NM_006736.6(DNAJB2):c.446-17C>G SNV Likely benign 917201 2:220147838-220147838 2:219283116-219283116 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNAJB2 NM_006736.6(DNAJB2):c.620-19G>A SNV Likely benign 917202 2:220149335-220149335 2:219284613-219284613 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy RAB7A NM_004637.6(RAB7A):c.400-17C>G SNV Likely benign 917245 3:128526369-128526369 3:128807526-128807526 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy RAB7A NM_004637.6(RAB7A):c.529-11T>G SNV Likely benign 917246 3:128532159-128532159 3:128813316-128813316 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.3479-20C>T SNV Likely benign 916850 5:148386660-148386660 5:149007097-149007097 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.175-18G>T SNV Likely benign 916770 9:130219577-130219577 9:127457298-127457298 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.2377-20_2377-19insCT insertion Likely benign 916999 6:110113764-110113765 6:109792561-109792562 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.1044-20T>C SNV Likely benign 916772 9:130243442-130243442 9:127481163-127481163 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.1830+20A>G SNV Likely benign 917356 9:130258394-130258394 9:127496115-127496115 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.2046+16T>C SNV Likely benign 917353 9:130263438-130263438 9:127501159-127501159 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.1254+8del deletion Likely benign 917301 9:94800522-94800522 9:92038240-92038240 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.58-19G>C SNV Likely benign 916857 9:94874863-94874863 9:92112581-92112581 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.861+9T>A SNV Likely benign 917188 11:10022452-10022452 11:10000905-10000905 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.142-22dup duplication Likely benign 917184 11:10064541-10064542 11:10042994-10042995 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.450-13T>C SNV Likely benign 917330 11:68675989-68675989 11:68908521-68908521 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.548-19G>A SNV Likely benign 917327 11:68678889-68678889 11:68911421-68911421 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.1061-19G>A SNV Likely benign 917329 11:68696632-68696632 11:68929164-68929164 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.2377-18T>C SNV Likely benign 916993 6:110113767-110113767 6:109792564-109792564 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.881+17G>A SNV Likely benign 916883 7:30649363-30649363 7:30609747-30609747 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1032-14G>A SNV Likely benign 917321 7:30655498-30655498 7:30615882-30615882 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1700-13A>G SNV Likely benign 916885 7:30668163-30668163 7:30628547-30628547 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1809+8G>C SNV Likely benign 916884 7:30668293-30668293 7:30628677-30628677 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1809+13G>A SNV Likely benign 916880 7:30668298-30668298 7:30628682-30628682 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1809+16C>T SNV Likely benign 917318 7:30668301-30668301 7:30628685-30628685 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1904-19C>T SNV Likely benign 916882 7:30671844-30671844 7:30632228-30632228 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.364+9_364+20del deletion Likely benign 916736 7:75932401-75932412 7:76303084-76303095 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.365-5dup duplication Likely benign 916741 7:75933108-75933109 7:76303791-76303792 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.428+13G>T SNV Likely benign 916738 7:75933195-75933195 7:76303878-76303878 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.4(NDRG1):c.892-11G>A SNV Likely benign 917388 8:134254328-134254328 8:133242085-133242085 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.4(NDRG1):c.756-5_756-4delinsTG indel Likely benign 917156 8:134260173-134260174 8:133247930-133247931 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.4(NDRG1):c.756-13T>C SNV Likely benign 917394 8:134260182-134260182 8:133247939-133247939 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.4(NDRG1):c.699-16C>G SNV Likely benign 917389 8:134261030-134261030 8:133248787-133248787 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.4(NDRG1):c.389+13G>C SNV Likely benign 917392 8:134271398-134271398 8:133259155-133259155 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.4(NDRG1):c.206-17T>G SNV Likely benign 917157 8:134274427-134274427 8:133262184-133262184 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.4(NDRG1):c.100-3C>T SNV Likely benign 917155 8:134276898-134276898 8:133264655-133264655 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.4(NDRG1):c.-18-2_-18-1del deletion Likely benign 917391 8:134296573-134296574 8:133284330-133284331 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.1170-19C>T SNV Likely benign 916904 8:24811328-24811328 8:24953814-24953814 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.1169+14G>A SNV Likely benign 916907 8:24811681-24811681 8:24954167-24954167 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.118-16G>A SNV Likely benign 917007 8:75263493-75263493 8:74351258-74351258 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.311-7A>G SNV Likely benign 917006 8:75272365-75272365 8:74360130-74360130 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.6(MTMR2):c.1594-20C>A SNV Likely benign 916800 11:95569508-95569508 11:95836344-95836344 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.6(MTMR2):c.1387-19T>G SNV Likely benign 916892 11:95574892-95574892 11:95841728-95841728 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.6(MTMR2):c.655-19T>C SNV Likely benign 916893 11:95583932-95583932 11:95850768-95850768 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.6(MTMR2):c.654+5G>A SNV Likely benign 916799 11:95590711-95590711 11:95857547-95857547 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.6(MTMR2):c.358-39_358-16del deletion Likely benign 916894 11:95595282-95595305 11:95862118-95862141 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.6(MTMR2):c.358-42_358-18del deletion Likely benign 916895 11:95595284-95595308 11:95862120-95862144 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.528+15G>C SNV Likely benign 916774 9:130224667-130224667 9:127462388-127462388 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.5452-3T>C SNV Likely benign 917253 11:9802066-9802066 11:9780519-9780519 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.5451+8G>C SNV Likely benign 917185 11:9803046-9803046 11:9781499-9781499 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.5038-9C>G SNV Likely benign 917190 11:9806874-9806874 11:9785327-9785327 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.3456-22_3456-18del short repeat Likely benign 917249 11:9853985-9853989 11:9832438-9832442 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.2536+16A>T SNV Likely benign 917251 11:9875071-9875071 11:9853524-9853524 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.1711-9T>C SNV Likely benign 917260 11:9983662-9983662 11:9962115-9962115 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.1601-20T>C SNV Likely benign 917256 11:9985449-9985449 11:9963902-9963902 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.837-13A>G SNV Likely benign 917304 12:32755082-32755082 12:32602148-32602148 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.1191+7G>A SNV Likely benign 917302 12:32763775-32763775 12:32610841-32610841 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.1511+11C>T SNV Likely benign 917306 12:32772815-32772815 12:32619881-32619881 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.280-13C>T SNV Likely benign 917140 12:57883194-57883194 12:57489411-57489411 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.414+8G>A SNV Likely benign 917133 12:57883349-57883349 12:57489566-57489566 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.663+11G>A SNV Likely benign 917132 12:57884173-57884173 12:57490390-57490390 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.663+20C>T SNV Likely benign 917130 12:57884182-57884182 12:57490399-57490399 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.887+17G>C SNV Likely benign 917359 12:57892073-57892073 12:57498290-57498290 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.1824+14G>A SNV Likely benign 917308 12:110230443-110230443 12:109792638-109792638 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.1824+5G>A SNV Likely benign 916864 12:110230452-110230452 12:109792647-109792647 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.1585-15C>A SNV Likely benign 917068 12:110231420-110231420 12:109793615-109793615 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.1492-17C>T SNV Likely benign 917070 12:110231844-110231844 12:109794039-109794039 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.1297-13T>C SNV Likely benign 917248 11:10011155-10011155 11:9989608-9989608 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.2336+10G>C SNV Likely benign 917069 12:110224505-110224505 12:109786700-109786700 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.1537+9G>C SNV Likely benign 916747 11:68701390-68701390 11:68933922-68933922 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.1538-19G>A SNV Likely benign 916744 11:68701913-68701913 11:68934445-68934445 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.1538-11_1538-8del short repeat Likely benign 917332 11:68701914-68701917 11:68934446-68934449 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.1368+15C>T SNV Likely benign 917129 12:57898097-57898097 12:57504314-57504314 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.1369-14C>T SNV Likely benign 917138 12:57905467-57905467 12:57511684-57511684 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.2392-8T>A SNV Likely benign 917139 12:57909695-57909695 12:57515912-57515912 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.2557-14C>T SNV Likely benign 917131 12:57910204-57910204 12:57516421-57516421 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.2557-13C>A SNV Likely benign 917135 12:57910205-57910205 12:57516422-57516422 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.2557-13C>G SNV Likely benign 917134 12:57910205-57910205 12:57516422-57516422 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.2557-12C>G SNV Likely benign 917358 12:57910206-57910206 12:57516423-57516423 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.519-17A>G SNV Likely benign 917265 14:102446039-102446039 14:101979702-101979702 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.519-3dup duplication Likely benign 917266 14:102446048-102446049 14:101979711-101979712 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.1152+15dup duplication Likely benign 917312 12:110236399-110236400 12:109798594-109798595 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.1152+12G>T SNV Likely benign 916865 12:110236407-110236407 12:109798602-109798602 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.4(MED25):c.305+17T>G SNV Likely benign 917049 19:50322570-50322570 19:49819313-49819313 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.4(MED25):c.688+17G>A SNV Likely benign 917052 19:50333222-50333222 19:49829965-49829965 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.7848+13G>A SNV Likely benign 916960 14:102483349-102483349 14:102017012-102017012 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.8178-19C>T SNV Likely benign 916961 14:102484769-102484769 14:102018432-102018432 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.8343+9_8343+10del short repeat Likely benign 916963 14:102484960-102484961 14:102018623-102018624 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.8638-7dup duplication Likely benign 916965 14:102492897-102492898 14:102026560-102026561 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.8772-13C>T SNV Likely benign 916966 14:102493498-102493498 14:102027161-102027161 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.9048+16G>A SNV Likely benign 916967 14:102493897-102493897 14:102027560-102027560 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.9468+9A>G SNV Likely benign 917211 14:102494487-102494487 14:102028150-102028150 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.10626+12G>A SNV Likely benign 917213 14:102500537-102500537 14:102034200-102034200 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.10754+10C>T SNV Likely benign 917214 14:102500799-102500799 14:102034462-102034462 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.11595+20C>T SNV Likely benign 917218 14:102505903-102505903 14:102039566-102039566 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.12102+20C>T SNV Likely benign 917283 14:102508091-102508091 14:102041754-102041754 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.12276-17T>C SNV Likely benign 917284 14:102508704-102508704 14:102042367-102042367 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.13218+18G>A SNV Likely benign 917285 14:102514383-102514383 14:102048046-102048046 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.13372+14C>T SNV Likely benign 917286 14:102515020-102515020 14:102048683-102048683 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.13516-18G>C SNV Likely benign 917288 14:102516033-102516033 14:102049696-102049696 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LITAF NM_001136473.1(LITAF):c.377+3G>A SNV Likely benign 917348 16:11647386-11647386 16:11553530-11553530 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LITAF NM_001136473.1(LITAF):c.221-16C>T SNV Likely benign 917349 16:11647561-11647561 16:11553705-11553705 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TTR NM_000371.4(TTR):c.201-3T>C SNV Likely benign 917086 18:29175080-29175080 18:31595117-31595117 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.4(MED25):c.134+19A>G SNV Likely benign 917057 19:50321751-50321751 19:49818494-49818494 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.4(MED25):c.134+20C>T SNV Likely benign 916782 19:50321752-50321752 19:49818495-49818495 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PDK3 NM_005391.5(PDK3):c.249-9dup duplication Likely benign 917163 X:24516925-24516926 X:24498808-24498809 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PDK3 NM_005391.5(PDK3):c.674-11T>C SNV Likely benign 917164 X:24544304-24544304 X:24526187-24526187 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.4(MED25):c.1102-11C>G SNV Likely benign 916781 19:50334579-50334579 19:49831322-49831322 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.4(MED25):c.1317-16del deletion Likely benign 917045 19:50335340-50335340 19:49832083-49832083 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.4(MED25):c.1482+17G>A SNV Likely benign 917055 19:50335689-50335689 19:49832432-49832432 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.4(MED25):c.1675-18C>T SNV Likely benign 917047 19:50338773-50338773 19:49835516-49835516 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.4(MED25):c.1747-19_1747-18del deletion Likely benign 916784 19:50338965-50338966 19:49835708-49835709 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.4(MED25):c.1966-5C>T SNV Likely benign 916783 19:50339478-50339478 19:49836221-49836221 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.4(MED25):c.2146+6G>A SNV Likely benign 916785 19:50339669-50339669 19:49836412-49836412 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.4(MED25):c.2146+19G>T SNV Likely benign 917050 19:50339682-50339682 19:49836425-49836425 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AIFM1 NM_004208.4(AIFM1):c.1574-20G>T SNV Likely benign 916945 X:129264161-129264161 X:130130186-130130186 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AIFM1 NM_004208.4(AIFM1):c.249+1258T>C SNV Likely benign 916947 X:129289178-129289178 X:130155203-130155203 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PDK3 NM_005391.5(PDK3):c.249-14T>G SNV Likely benign 917165 X:24516932-24516932 X:24498815-24498815 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) SNV Likely benign 4802 rs119482084 9:94800624-94800624 9:92038342-92038342 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.300G>A (p.Val100=) SNV Likely benign 917180 19:40904608-40904608 19:40398701-40398701 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.1077C>G (p.Arg359=) SNV Likely benign 917183 19:40903182-40903182 19:40397275-40397275 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.861C>T (p.Ala287=) SNV Likely benign 916925 19:40903398-40903398 19:40397491-40397491 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AIFM1 NM_004208.4(AIFM1):c.*20C>A SNV Likely benign 916943 X:129263512-129263512 X:130129537-130129537 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AIFM1 NM_004208.4(AIFM1):c.1782C>T (p.Asp594=) SNV Likely benign 916944 X:129263592-129263592 X:130129617-130129617 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.107-11T>G SNV Likely benign 916749 1:10316294-10316294 1:10256236-10256236 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.4(MED25):c.1044C>T (p.Ser348=) SNV Likely benign 917046 19:50334087-50334087 19:49830830-49830830 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.4(MED25):c.1369C>T (p.Leu457=) SNV Likely benign 917141 19:50335409-50335409 19:49832152-49832152 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.4(MED25):c.1533C>T (p.Leu511=) SNV Likely benign 917051 19:50338293-50338293 19:49835036-49835036 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.4(MED25):c.558G>A (p.Arg186=) SNV Likely benign 917054 19:50333075-50333075 19:49829818-49829818 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.4(MED25):c.580C>T (p.Leu194=) SNV Likely benign 917044 19:50333097-50333097 19:49829840-49829840 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.4(MED25):c.168C>T (p.Asp56=) SNV Likely benign 917142 19:50321861-50321861 19:49818604-49818604 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.4(MED25):c.186G>A (p.Gly62=) SNV Likely benign 917053 19:50322434-50322434 19:49819177-49819177 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.1495+10del deletion Likely benign 916792 1:12064992-12064992 1:12004935-12004935 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.1717-15T>C SNV Likely benign 916791 1:12066580-12066580 1:12006523-12006523 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.1717-12T>G SNV Likely benign 916790 1:12066583-12066583 1:12006526-12006526 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.2069+18A>G SNV Likely benign 916789 1:12067324-12067324 1:12007267-12007267 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.2070-11C>T SNV Likely benign 916886 1:12069638-12069638 1:12009581-12009581 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.2070-8C>T SNV Likely benign 916890 1:12069641-12069641 1:12009584-12009584 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1157+15C>T SNV Likely benign 917028 1:156105927-156105927 1:156136136-156136136 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1489-16C>G SNV Likely benign 916768 1:156106888-156106888 1:156137097-156137097 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.3422+18T>C SNV Likely benign 917024 1:10397609-10397609 1:10337551-10337551 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.3688+7_3688+8dup duplication Likely benign 916761 1:10403350-10403351 1:10343292-10343293 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.3798-15G>A SNV Likely benign 916748 1:10407804-10407804 1:10347746-10347746 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.4305-17T>A SNV Likely benign 917022 1:10423324-10423324 1:10363266-10363266 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.4946+10C>T SNV Likely benign 917023 1:10431330-10431330 1:10371272-10371272 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.4947-13C>G SNV Likely benign 916753 1:10434361-10434361 1:10374303-10374303 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.5097-11G>T SNV Likely benign 916763 1:10434901-10434901 1:10374843-10374843 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.5409-16C>T SNV Likely benign 917342 1:10436587-10436587 1:10376529-10376529 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.1435-9C>T SNV Likely benign 917346 1:10351131-10351131 1:10291073-10291073 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.1671-4T>C SNV Likely benign 916756 1:10355714-10355714 1:10295656-10295656 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.1180+13A>G SNV Likely benign 916755 1:10338199-10338199 1:10278141-10278141 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.1180+19G>A SNV Likely benign 916754 1:10338205-10338205 1:10278147-10278147 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AIFM1 NM_004208.4(AIFM1):c.939C>T (p.Ser313=) SNV Likely benign 916946 X:129272596-129272596 X:130138621-130138621 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.4(MED25):c.1764G>A (p.Pro588=) SNV Likely benign 917048 19:50339001-50339001 19:49835744-49835744 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.4(MED25):c.2037G>A (p.Leu679=) SNV Likely benign 917056 19:50339554-50339554 19:49836297-49836297 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.*18C>G SNV Likely benign 917323 X:70444427-70444427 X:71224577-71224577 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.107-13T>C SNV Likely benign 916757 1:10316292-10316292 1:10256234-10256234 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.608+14T>G SNV Likely benign 917345 1:10327630-10327630 1:10267572-10267572 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.609-10G>A SNV Likely benign 916762 1:10328200-10328200 1:10268142-10268142 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.13404G>T (p.Thr4468=) SNV Likely benign 917287 14:102515808-102515808 14:102049471-102049471 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.5292C>T (p.Thr1764=) SNV Likely benign 916853 14:102471432-102471432 14:102005095-102005095 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.5649C>T (p.Pro1883=) SNV Likely benign 916854 14:102472440-102472440 14:102006103-102006103 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.5668T>C (p.Leu1890=) SNV Likely benign 916855 14:102472459-102472459 14:102006122-102006122 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.6240C>G (p.Leu2080=) SNV Likely benign 916856 14:102476631-102476631 14:102010294-102010294 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.7135C>T (p.Leu2379=) SNV Likely benign 916957 14:102481562-102481562 14:102015225-102015225 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.7179G>A (p.Glu2393=) SNV Likely benign 916958 14:102481606-102481606 14:102015269-102015269 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.7296G>C (p.Leu2432=) SNV Likely benign 916959 14:102482246-102482246 14:102015909-102015909 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.8262C>T (p.Ala2754=) SNV Likely benign 916962 14:102484872-102484872 14:102018535-102018535 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.8631G>A (p.Leu2877=) SNV Likely benign 916964 14:102489211-102489211 14:102022874-102022874 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.9072C>T (p.Asp3024=) SNV Likely benign 916968 14:102493979-102493979 14:102027642-102027642 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.9471G>T (p.Ala3157=) SNV Likely benign 917212 14:102495878-102495878 14:102029541-102029541 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.10995G>A (p.Gly3665=) SNV Likely benign 917215 14:102504883-102504883 14:102038546-102038546 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.11112C>T (p.Thr3704=) SNV Likely benign 917216 14:102505091-102505091 14:102038754-102038754 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.11424C>T (p.Cys3808=) SNV Likely benign 917217 14:102505555-102505555 14:102039218-102039218 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.11646C>G (p.Thr3882=) SNV Likely benign 917219 14:102506025-102506025 14:102039688-102039688 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.354G>T (p.Thr118=) SNV Likely benign 916815 17:15134363-15134363 17:15231046-15231046 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.402C>T (p.Phe134=) SNV Likely benign 916814 17:15134315-15134315 17:15230998-15230998 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.477C>T (p.Arg159=) SNV Likely benign 916813 17:15134240-15134240 17:15230923-15230923 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.13869C>T (p.Asp4623=) SNV Likely benign 917289 14:102516828-102516828 14:102050491-102050491 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.13899C>T (p.Arg4633=) SNV Likely benign 917290 14:102516858-102516858 14:102050521-102050521 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.4146C>T (p.Gly1382=) SNV Likely benign 917177 19:40900113-40900113 19:40394206-40394206 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TTR NM_000371.4(TTR):c.75C>T (p.Thr25=) SNV Likely benign 917085 18:29172864-29172864 18:31592901-31592901 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.1638A>G (p.Val546=) SNV Likely benign 916830 19:40902621-40902621 19:40396714-40396714 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.1695A>T (p.Pro565=) SNV Likely benign 916833 19:40902564-40902564 19:40396657-40396657 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.1695A>G (p.Pro565=) SNV Likely benign 916829 19:40902564-40902564 19:40396657-40396657 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.1986C>T (p.Val662=) SNV Likely benign 916928 19:40902273-40902273 19:40396366-40396366 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.1950C>T (p.Pro650=) SNV Likely benign 917178 19:40902309-40902309 19:40396402-40396402 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.1857A>G (p.Pro619=) SNV Likely benign 917182 19:40902402-40902402 19:40396495-40396495 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.2295C>T (p.Asp765=) SNV Likely benign 917181 19:40901964-40901964 19:40396057-40396057 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.2424G>A (p.Lys808=) SNV Likely benign 917179 19:40901835-40901835 19:40395928-40395928 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.2400G>A (p.Lys800=) SNV Likely benign 916926 19:40901859-40901859 19:40395952-40395952 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.2724G>T (p.Leu908=) SNV Likely benign 916831 19:40901535-40901535 19:40395628-40395628 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.2649G>A (p.Glu883=) SNV Likely benign 917175 19:40901610-40901610 19:40395703-40395703 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.3195C>T (p.Ser1065=) SNV Likely benign 916924 19:40901064-40901064 19:40395157-40395157 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.3423G>A (p.Ala1141=) SNV Likely benign 916832 19:40900836-40900836 19:40394929-40394929 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.3519A>C (p.Thr1173=) SNV Likely benign 917176 19:40900740-40900740 19:40394833-40394833 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.3768G>T (p.Val1256=) SNV Likely benign 916927 19:40900491-40900491 19:40394584-40394584 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.2931G>C (p.Leu977=) SNV Likely benign 916745 11:68707148-68707148 11:68939680-68939680 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.*18C>T SNV Likely benign 917331 11:68707217-68707217 11:68939749-68939749 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.2670C>T (p.Ala890=) SNV Likely benign 916746 11:68705708-68705708 11:68938240-68938240 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.406C>T (p.Leu136=) SNV Likely benign 917328 11:68675762-68675762 11:68908294-68908294 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.2070C>G (p.Ala690=) SNV Likely benign 917333 11:68704018-68704018 11:68936550-68936550 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.273G>T (p.Leu91=) SNV Likely benign 916743 11:68675629-68675629 11:68908161-68908161 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.78A>G (p.Lys26=) SNV Likely benign 917257 11:10215512-10215512 11:10193965-10193965 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.483C>T (p.Ala161=) SNV Likely benign 917300 9:94830325-94830325 9:92068043-92068043 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy EGR2 NM_000399.5(EGR2):c.645G>A (p.Thr215=) SNV Likely benign 917061 10:64573753-64573753 10:62813993-62813993 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy EGR2 NM_000399.5(EGR2):c.222A>C (p.Pro74=) SNV Likely benign 917062 10:64574176-64574176 10:62814416-62814416 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy EGR2 NM_000399.5(EGR2):c.210G>A (p.Ser70=) SNV Likely benign 917063 10:64574188-64574188 10:62814428-62814428 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy EGR2 NM_000399.5(EGR2):c.789T>C (p.Thr263=) SNV Likely benign 917059 10:64573609-64573609 10:62813849-62813849 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy EGR2 NM_000399.5(EGR2):c.774G>A (p.Val258=) SNV Likely benign 917060 10:64573624-64573624 10:62813864-62813864 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.75G>A (p.Lys25=) SNV Likely benign 917089 8:75262771-75262771 8:74350536-74350536 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.123C>T (p.Arg41=) SNV Likely benign 917088 8:75263514-75263514 8:74351279-74351279 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.86T>C (p.Val29Ala) SNV Likely benign 916906 8:24813944-24813944 8:24956430-24956430 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.-19C>T SNV Likely benign 917008 8:75262678-75262678 8:74350443-74350443 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.894T>C (p.Asn298=) SNV Likely benign 917087 8:75276419-75276419 8:74364184-74364184 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.51C>T (p.Arg17=) SNV Likely benign 916773 9:130216857-130216857 9:127454578-127454578 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.330C>T (p.Asn110=) SNV Likely benign 916769 9:130223460-130223460 9:127461181-127461181 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.492T>C (p.Ile164=) SNV Likely benign 917005 8:75274126-75274126 8:74361891-74361891 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.609G>A (p.Lys203=) SNV Likely benign 917090 8:75275203-75275203 8:74362968-74362968 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy EGR2 NM_000399.5(EGR2):c.843C>T (p.Thr281=) SNV Likely benign 917058 10:64573555-64573555 10:62813795-62813795 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.1440T>G (p.Thr480=) SNV Likely benign 917357 9:130253511-130253511 9:127491232-127491232 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.1518G>A (p.Glu506=) SNV Likely benign 917355 9:130255095-130255095 9:127492816-127492816 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.1581A>G (p.Glu527=) SNV Likely benign 917354 9:130255158-130255158 9:127492879-127492879 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.1083T>C (p.Asn361=) SNV Likely benign 916771 9:130243501-130243501 9:127481222-127481222 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.993C>T (p.Ser331=) SNV Likely benign 917299 9:94809542-94809542 9:92047260-92047260 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.2349G>C (p.Val783=) SNV Likely benign 917313 12:110222230-110222230 12:109784425-109784425 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.2157C>T (p.Gly719=) SNV Likely benign 917310 12:110226256-110226256 12:109788451-109788451 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.948A>C (p.Leu316=) SNV Likely benign 917259 11:10019840-10019840 11:9998293-9998293 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.1368G>A (p.Arg456=) SNV Likely benign 917189 11:10011071-10011071 11:9989524-9989524 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.2619T>C (p.Ile873=) SNV Likely benign 917252 11:9871757-9871757 11:9850210-9850210 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.2109T>C (p.Leu703=) SNV Likely benign 917255 11:9878259-9878259 11:9856712-9856712 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.4290C>T (p.Pro1430=) SNV Likely benign 917187 11:9829700-9829700 11:9808153-9808153 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.4101T>G (p.Thr1367=) SNV Likely benign 916941 11:9834133-9834133 11:9812586-9812586 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.4758G>A (p.Glu1586=) SNV Likely benign 917254 11:9810830-9810830 11:9789283-9789283 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.4635T>A (p.Ile1545=) SNV Likely benign 917186 11:9812166-9812166 11:9790619-9790619 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.4539C>T (p.Leu1513=) SNV Likely benign 917250 11:9817409-9817409 11:9795862-9795862 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.6(MTMR2):c.-16C>T SNV Likely benign 916798 11:95657134-95657134 11:95923970-95923970 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.5277T>G (p.Gly1759=) SNV Likely benign 917258 11:9805940-9805940 11:9784393-9784393 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.5043A>G (p.Gln1681=) SNV Likely benign 917247 11:9806860-9806860 11:9785313-9785313 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.6(MTMR2):c.684A>G (p.Thr228=) SNV Likely benign 916801 11:95583884-95583884 11:95850720-95850720 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.855A>G (p.Leu285=) SNV Likely benign 917267 14:102446781-102446781 14:101980444-101980444 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.1062A>G (p.Arg354=) SNV Likely benign 917268 14:102449456-102449456 14:101983119-101983119 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.3378G>A (p.Glu1126=) SNV Likely benign 916852 14:102461367-102461367 14:101995030-101995030 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.2112C>T (p.Ala704=) SNV Likely benign 917137 12:57908749-57908749 12:57514966-57514966 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.2220A>G (p.Thr740=) SNV Likely benign 917305 12:32793386-32793386 12:32640452-32640452 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.1731G>A (p.Leu577=) SNV Likely benign 917136 12:57906114-57906114 12:57512331-57512331 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.1198C>T (p.Leu400=) SNV Likely benign 917303 12:32764077-32764077 12:32611143-32611143 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.1413T>G (p.Val471=) SNV Likely benign 917307 12:32772706-32772706 12:32619772-32619772 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.396G>T (p.Pro132=) SNV Likely benign 917309 12:110246264-110246264 12:109808459-109808459 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.615C>A (p.Gly205=) SNV Likely benign 917071 12:110240893-110240893 12:109803088-109803088 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.1977G>A (p.Ser659=) SNV Likely benign 917072 12:110226436-110226436 12:109788631-109788631 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.2610G>A (p.Pro870=) SNV Likely benign 917311 12:110221432-110221432 12:109783627-109783627 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.834G>A (p.Glu278=) SNV Likely benign 916863 12:110238442-110238442 12:109800637-109800637 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.4(NDRG1):c.72C>T (p.Thr24=) SNV Likely benign 917395 8:134292502-134292502 8:133280259-133280259 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.4(NDRG1):c.1062C>G (p.Ser354=) SNV Likely benign 917154 8:134251244-134251244 8:133239001-133239001 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.4(NDRG1):c.1053A>C (p.Arg351=) SNV Likely benign 917390 8:134251253-134251253 8:133239010-133239010 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.*20A>C SNV Likely benign 916739 7:75933510-75933510 7:76304193-76304193 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1644A>G (p.Thr548=) SNV Likely benign 916881 7:30665880-30665880 7:30626264-30626264 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.2319T>C (p.Ser773=) SNV Likely benign 917079 6:110112717-110112717 6:109791514-109791514 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.-5C>T SNV Likely benign 916737 7:75932025-75932025 7:76302708-76302708 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.110G>C (p.Arg37Pro) SNV Likely benign 916740 7:75932139-75932139 7:76302822-76302822 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.1086G>A (p.Lys362=) SNV Likely benign 917159 8:24811778-24811778 8:24954264-24954264 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.1611A>G (p.Gln537=) SNV Likely benign 916902 8:24810344-24810344 8:24952831-24952831 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.4(NDRG1):c.766C>T (p.Leu256=) SNV Likely benign 917393 8:134260159-134260159 8:133247916-133247916 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.678G>T (p.Val226=) SNV Likely benign 916903 8:24813352-24813352 8:24955838-24955838 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.630G>A (p.Glu210=) SNV Likely benign 916905 8:24813400-24813400 8:24955886-24955886 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.612C>T (p.Leu204=) SNV Likely benign 917158 8:24813418-24813418 8:24955904-24955904 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.945A>G (p.Ser315=) SNV Likely benign 917220 5:148417914-148417914 5:149038351-149038351 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.105A>G (p.Lys35=) SNV Likely benign 917076 6:110036319-110036319 6:109715116-109715116 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.1584C>G (p.Ala528=) SNV Likely benign 916971 5:148407711-148407711 5:149028148-149028148 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.1890G>A (p.Pro630=) SNV Likely benign 916973 5:148407405-148407405 5:149027842-149027842 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.-14A>G SNV Likely benign 917322 7:30634524-30634524 7:30594908-30594908 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.129G>T (p.Pro43=) SNV Likely benign 917320 7:30634666-30634666 7:30595050-30595050 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.282A>G (p.Ala94=) SNV Likely benign 917319 7:30638471-30638471 7:30598855-30598855 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.1341T>C (p.Phe447=) SNV Likely benign 917074 6:110083363-110083363 6:109762160-109762160 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.1356T>C (p.Asp452=) SNV Likely benign 916996 6:110083378-110083378 6:109762175-109762175 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.1536G>T (p.Leu512=) SNV Likely benign 916994 6:110086317-110086317 6:109765114-109765114 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.252G>A (p.Ser84=) SNV Likely benign 916995 6:110037734-110037734 6:109716531-109716531 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.744G>A (p.Leu248=) SNV Likely benign 916997 6:110059625-110059625 6:109738422-109738422 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.687G>C (p.Leu229=) SNV Likely benign 916974 5:148421023-148421023 5:149041460-149041460 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.*1C>T SNV Likely benign 917384 1:161275665-161275665 1:161305875-161305875 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1092C>T (p.Asp364=) SNV Likely benign 917026 1:156105847-156105847 1:156136056-156136056 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.572T>G (p.Val191Gly) SNV Likely benign 916767 1:156104252-156104252 1:156134461-156134461 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.2130G>A (p.Leu710=) SNV Likely benign 916891 1:12069709-12069709 1:12009652-12009652 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.2028C>T (p.Val676=) SNV Likely benign 916887 1:12067265-12067265 1:12007208-12007208 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.3936T>C (p.Arg1312=) SNV Likely benign 916759 1:10408778-10408778 1:10348720-10348720 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.1968T>C (p.Pro656=) SNV Likely benign 916751 1:10357061-10357061 1:10297003-10297003 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.1476C>T (p.Thr492=) SNV Likely benign 916889 1:12064965-12064965 1:12004908-12004908 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.318C>T (p.Ser106=) SNV Likely benign 916788 1:12056219-12056219 1:11996162-11996162 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.2718T>C (p.Tyr906=) SNV Likely benign 916978 5:148406577-148406577 5:149027014-149027014 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.3531C>T (p.Tyr1177=) SNV Likely benign 916975 5:148386588-148386588 5:149007025-149007025 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.2184C>A (p.Gly728=) SNV Likely benign 916972 5:148407111-148407111 5:149027548-149027548 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.2535A>C (p.Ala845=) SNV Likely benign 916849 5:148406760-148406760 5:149027197-149027197 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.42G>A (p.Leu14=) SNV Likely benign 917386 1:161279654-161279654 1:161309864-161309864 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNAJB2 NM_006736.6(DNAJB2):c.264T>C (p.Gly88=) SNV Likely benign 917197 2:220146695-220146695 2:219281973-219281973 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNAJB2 NM_006736.6(DNAJB2):c.444C>T (p.Ser148=) SNV Likely benign 917200 2:220147650-220147650 2:219282928-219282928 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNAJB2 NM_006736.6(DNAJB2):c.966C>G (p.Leu322=) SNV Likely benign 917203 2:220149700-220149700 2:219284978-219284978 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNAJB2 NM_006736.6(DNAJB2):c.*17G>T SNV Likely benign 917204 2:220149726-220149726 2:219285004-219285004 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.174C>T (p.Val58=) SNV Likely benign 917383 1:161277108-161277108 1:161307318-161307318 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.531C>T (p.Tyr177=) SNV Likely benign 917385 1:161276172-161276172 1:161306382-161306382 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.78C>T (p.Cys26=) SNV Likely benign 696714 1:10292464-10292464 1:10232406-10232406 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.4524C>T (p.Thr1508=) SNV Likely benign 697365 1:10425478-10425478 1:10365420-10365420 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy EGR2 NM_000399.5(EGR2):c.1395G>A (p.Pro465=) SNV Likely benign 696704 10:64573003-64573003 10:62813243-62813243 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.822G>A (p.Leu274=) SNV Likely benign 697969 9:130241703-130241703 9:127479424-127479424 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.3969G>A (p.Ser1323=) SNV Likely benign 698569 11:9838396-9838396 11:9816849-9816849 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.1854T>G (p.Thr618=) SNV Likely benign 697774 11:9983510-9983510 11:9961963-9961963 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.2092C>T (p.Leu698=) SNV Likely benign 699600 12:110226321-110226321 12:109788516-109788516 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.1827T>A (p.Ile609=) SNV Likely benign 698062 12:110230232-110230232 12:109792427-109792427 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.1404C>T (p.Ala468=) SNV Likely benign 697732 12:110232221-110232221 12:109794416-109794416 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.939C>T (p.Thr313=) SNV Likely benign 699935 14:102446865-102446865 14:101980528-101980528 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.1815C>T (p.Thr605=) SNV Likely benign 702053 1:12066693-12066693 1:12006636-12006636 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.42G>A (p.Lys14=) SNV Likely benign 700731 6:110012680-110012680 6:109691477-109691477 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.2241G>A (p.Pro747=) SNV Likely benign 698683 6:110112639-110112639 6:109791436-109791436 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.2097-10C>T SNV Likely benign 696058 6:110110787-110110787 6:109789584-109789584 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.1623G>A (p.Thr541=) SNV Likely benign 695916 11:9985407-9985407 11:9963860-9963860 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.760G>C (p.Val254Leu) SNV Likely benign 697188 12:110238516-110238516 12:109800711-109800711 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.732C>T (p.Ile244=) SNV Likely benign 696405 12:110238544-110238544 12:109800739-109800739 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.1491C>G (p.Pro497=) SNV Likely benign 697308 19:40902768-40902768 19:40396861-40396861 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.1113A>G (p.Glu371=) SNV Likely benign 697156 19:40903146-40903146 19:40397239-40397239 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.717G>T (p.Pro239=) SNV Likely benign 695271 19:40903542-40903542 19:40397635-40397635 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.2046G>A (p.Pro682=) SNV Likely benign 697114 19:50339563-50339563 19:49836306-49836306 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AIFM1 NM_004208.4(AIFM1):c.273_274inv (p.Glu92Lys) inversion Likely benign 696066 X:129283519-129283520 X:130149544-130149545 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.9330A>G (p.Thr3110=) SNV Likely benign 695423 14:102494340-102494340 14:102028003-102028003 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.1305G>C (p.Val435=) SNV Likely benign 668151 6:110083327-110083327 6:109762124-109762124 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.3522A>G (p.Thr1174=) SNV Likely benign 697283 5:148386597-148386597 5:149007034-149007034 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.1623G>A (p.Lys541=) SNV Likely benign 695254 5:148407672-148407672 5:149028109-149028109 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.252C>T (p.His84=) SNV Likely benign 917343 1:10318619-10318619 1:10258561-10258561 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.522T>C (p.Leu174=) SNV Likely benign 917025 1:10327530-10327530 1:10267472-10267472 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.606C>G (p.Ala202=) SNV Likely benign 916752 1:10327614-10327614 1:10267556-10267556 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.654C>T (p.His218=) SNV Likely benign 916760 1:10328255-10328255 1:10268197-10268197 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.807C>T (p.Thr269=) SNV Likely benign 698581 X:70444364-70444364 X:71224514-71224514 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.4(NDRG1):c.594+9C>T SNV Likely benign 700324 8:134266773-134266773 8:133254530-133254530 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.1160-7C>T SNV Likely benign 699098 9:130248008-130248008 9:127485729-127485729 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.2727C>T (p.Pro909=) SNV Likely benign 702943 1:10386220-10386220 1:10326162-10326162 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.543C>T (p.Cys181=) SNV Likely benign 703437 5:148421167-148421167 5:149041604-149041604 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1743G>C (p.Leu581=) SNV Likely benign 705450 7:30668219-30668219 7:30628603-30628603 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.689T>C (p.Val230Ala) SNV Likely benign 698750 19:50333345-50333345 19:49830088-49830088 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.10401T>A (p.Ala3467=) SNV Likely benign 701230 14:102499809-102499809 14:102033472-102033472 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.4059_4061GGA[8] (p.Glu1361dup) short repeat Likely benign 699561 19:40900179-40900180 19:40394272-40394273 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.5526C>A (p.Ile1842=) SNV Likely benign 704942 11:9801989-9801989 11:9780442-9780442 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.3450C>T (p.Cys1150=) SNV Likely benign 706272 11:9861050-9861050 11:9839503-9839503 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.201C>T (p.Leu67=) SNV Likely benign 702684 12:32735002-32735002 12:32582068-32582068 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.1860C>T (p.His620=) SNV Likely benign 702521 14:102452422-102452422 14:101986085-101986085 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.366G>A (p.Pro122=) SNV Likely benign 705391 17:15134351-15134351 17:15231034-15231034 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.1002-8C>T SNV Likely benign 702356 5:148411258-148411258 5:149031695-149031695 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.1272-10C>T SNV Likely benign 704961 6:110083284-110083284 6:109762081-109762081 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.10626+7A>G SNV Likely benign 702699 14:102500532-102500532 14:102034195-102034195 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.2028C>G (p.Val676=) SNV Likely benign 784848 9:130263404-130263404 9:127501125-127501125 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.1797G>A (p.Gly599=) SNV Likely benign 720494 14:102452359-102452359 14:101986022-101986022 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.4(NDRG1):c.856-9C>T SNV Likely benign 714466 8:134256642-134256642 8:133244399-133244399 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.2544C>T (p.Pro848=) SNV Likely benign 729255 11:68704492-68704492 11:68937024-68937024 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.1479C>T (p.Thr493=) SNV Likely benign 744141 11:68701323-68701323 11:68933855-68933855 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.5007G>A (p.Val1669=) SNV Likely benign 749743 11:9809211-9809211 11:9787664-9787664 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.261A>G (p.Pro87=) SNV Likely benign 744652 X:70443818-70443818 X:71223968-71223968 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1969-4T>C SNV Likely benign 745278 1:156108867-156108867 1:156139076-156139076 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1261C>T (p.Leu421=) SNV Likely benign 756494 1:156106108-156106108 1:156136317-156136317 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.420G>A (p.Glu140=) SNV Likely benign 756552 8:24813610-24813610 8:24956096-24956096 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.1573C>A (p.Arg525=) SNV Likely benign 763672 9:130255150-130255150 9:127492871-127492871 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NTRK1 NM_002529.3(NTRK1):c.574+1G>A SNV Likely benign 637365 1:156838042-156838042 1:156868250-156868250 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.441C>T (p.Ala147=) SNV Likely benign 637879 X:70443998-70443998 X:71224148-71224148 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.462T>C (p.Tyr154=) SNV Likely benign 637880 X:70444019-70444019 X:71224169-71224169 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.7979T>G (p.Val2660Gly) SNV Likely benign 694849 14:102483555-102483555 14:102017218-102017218 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SCN11A NM_001349253.2(SCN11A):c.1257G>T (p.Lys419Asn) SNV Likely benign 637857 3:38950530-38950530 3:38909039-38909039 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.151C>T (p.Pro51Ser) SNV Likely benign 543294 rs147869920 19:50321844-50321844 19:49818587-49818587 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.228C>T (p.Cys76=) SNV Likely benign 543263 rs770196362 19:50322476-50322476 19:49819219-49819219 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PDK3 NM_001142386.3(PDK3):c.751-10A>G SNV Likely benign 541116 rs372774822 X:24545681-24545681 X:24527564-24527564 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*1783G>A SNV Likely benign 543446 rs567690884 19:40902681-40902681 19:40396774-40396774 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.4(NEFL):c.321C>G (p.Arg107=) SNV Likely benign 533518 rs1198042093 8:24813709-24813709 8:24956195-24956195 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.1026_1027delinsTT (p.Leu342_Leu343=) indel Likely benign 540013 rs1554757292 9:130242240-130242241 9:127479961-127479962 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.280-5T>C SNV Likely benign 543508 rs368118378 11:10052722-10052722 11:10031175-10031175 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.2139C>T (p.Ile713=) SNV Likely benign 540015 rs373990000 9:130265145-130265145 9:127502866-127502866 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.5(MTMR2):c.297C>T (p.Gly99=) SNV Likely benign 543509 rs772347980 11:95595496-95595496 11:95862332-95862332 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.1899C>T (p.Val633=) SNV Likely benign 536871 rs753027239 12:110226514-110226514 12:109788709-109788709 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*952C>T SNV Likely benign 543474 rs3814289 19:40903512-40903512 19:40397605-40397605 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.1227A>G (p.Gln409=) SNV Likely benign 543270 rs769851706 19:50334715-50334715 19:49831458-49831458 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.1572C>T (p.Gly524=) SNV Likely benign 543264 rs559482732 19:50338332-50338332 19:49835075-49835075 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.336G>A (p.Val112=) SNV Likely benign 543470 rs369268369 19:40904572-40904572 19:40398665-40398665 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*4144G>A SNV Likely benign 543487 rs140109585 19:40900320-40900320 19:40394413-40394413 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*1334G>T SNV Likely benign 543498 rs754081921 19:40903130-40903130 19:40397223-40397223 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.2511C>G (p.Ala837=) SNV Likely benign 542182 rs780483586 12:57910075-57910075 12:57516292-57516292 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.261C>T (p.Asp87=) SNV Likely benign 539799 rs75113705 14:102442053-102442053 14:101975716-101975716 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.4176T>C (p.Gly1392=) SNV Likely benign 539793 rs112261870 14:102467392-102467392 14:102001055-102001055 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.6381T>C (p.Ile2127=) SNV Likely benign 539810 rs759525537 14:102476772-102476772 14:102010435-102010435 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.123G>A (p.Leu41=) SNV Likely benign 539797 rs1260546515 14:102431151-102431151 14:101964814-101964814 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.10083C>T (p.Asp3361=) SNV Likely benign 590077 rs772665813 14:102499405-102499405 14:102033068-102033068 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.5874C>T (p.Asp1958=) SNV Likely benign 589430 rs142726284 14:102474571-102474571 14:102008234-102008234 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.1299G>A (p.Leu433=) SNV Likely benign 588535 rs1566997875 14:102449784-102449784 14:101983447-101983447 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1596C>T (p.Ala532=) SNV Likely benign 466581 rs988590959 11:68701990-68701990 11:68934522-68934522 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.840C>T (p.Tyr280=) SNV Likely benign 467774 rs374624466 8:75276365-75276365 8:74364130-74364130 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.795C>T (p.Tyr265=) SNV Likely benign 456604 rs150756641 9:94812335-94812335 9:92050053-92050053 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1194_1195delinsCC (p.Phe399Leu) indel Likely benign 476882 rs1554121791 5:148408100-148408101 5:149028537-149028538 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.365-7C>G SNV Likely benign 465272 rs201897299 7:75933112-75933112 7:76303795-76303795 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.3(NDRG1):c.861G>A (p.Ala287=) SNV Likely benign 476849 rs150101908 8:134256628-134256628 8:133244385-133244385 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.529+8T>A SNV Likely benign 476908 rs780594631 5:148422249-148422249 5:149042686-149042686 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*2846C>A SNV Likely benign 476960 rs375201649 19:40901618-40901618 19:40395711-40395711 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.689-3C>T SNV Likely benign 476809 rs199623358 19:50333342-50333342 19:49830085-49830085 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.87C>T (p.Ile29=) SNV Likely benign 462782 rs201192820 17:15162502-15162502 17:15259185-15259185 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*999G>T SNV Likely benign 476981 rs374837022 19:40903465-40903465 19:40397558-40397558 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.3804+9C>T SNV Likely benign 472530 rs377635872 14:102463620-102463620 14:101997283-101997283 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.8202G>A (p.Val2734=) SNV Likely benign 472554 rs202023896 14:102484812-102484812 14:102018475-102018475 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.792G>A (p.Arg264=) SNV Likely benign 475430 rs141609469 12:57891961-57891961 12:57498178-57498178 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.4809C>T (p.His1603=) SNV Likely benign 476935 rs199670153 11:9810779-9810779 11:9789232-9789232 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.4687T>C (p.Leu1563=) SNV Likely benign 476932 rs563878786 11:9812114-9812114 11:9790567-9790567 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.2163G>C (p.Val721=) SNV Likely benign 475420 rs762587995 12:57908800-57908800 12:57515017-57515017 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.1962G>A (p.Glu654=) SNV Likely benign 476942 rs201822384 12:32791648-32791648 12:32638714-32638714 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.6535C>A (p.Arg2179=) SNV Likely benign 472546 rs147905977 14:102477206-102477206 14:102010869-102010869 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.117+12C>G SNV Likely benign 506605 rs202059380 8:75262825-75262825 8:74350590-74350590 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.720C>T (p.Cys240=) SNV Likely benign 514656 rs367790253 8:75276245-75276245 8:74364010-74364010 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.619+11G>A SNV Likely benign 510933 rs370502826 9:130230120-130230120 9:127467841-127467841 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.560+16G>A SNV Likely benign 511293 rs73512337 9:94830232-94830232 9:92067950-92067950 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.403-15T>G SNV Likely benign 511048 rs887143579 11:10051437-10051437 11:10029890-10029890 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.513+18A>T SNV Likely benign 516375 rs201201683 11:10051294-10051294 11:10029747-10029747 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2499G>A (p.Leu833=) SNV Likely benign 507857 rs371840404 11:68704447-68704447 11:68936979-68936979 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1032G>A (p.Ser344=) SNV Likely benign 515489 rs779452908 11:68685323-68685323 11:68917855-68917855 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.753-16T>C SNV Likely benign 510865 rs7128234 11:10022585-10022585 11:10001038-10001038 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.5(MTMR2):c.186+9A>G SNV Likely benign 512786 rs371081575 11:95621311-95621311 11:95888147-95888147 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.6222-20C>A SNV Likely benign 511211 rs200368499 14:102476593-102476593 14:102010256-102010256 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.12594A>T (p.Pro4198=) SNV Likely benign 514761 rs143936619 14:102510292-102510292 14:102043955-102043955 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*2032C>T SNV Likely benign 508197 rs751816156 19:40902432-40902432 19:40396525-40396525 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*847C>A SNV Likely benign 507425 rs551628239 19:40903617-40903617 19:40397710-40397710 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.8637+9C>T SNV Likely benign 508887 rs202042156 14:102489226-102489226 14:102022889-102022889 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2612-14C>T SNV Likely benign 507553 rs200940488 11:68705636-68705636 11:68938168-68938168 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.1584+12G>T SNV Likely benign 516319 rs375908611 12:110231723-110231723 12:109793918-109793918 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.415-5C>A SNV Likely benign 508936 rs747351446 12:57883674-57883674 12:57489891-57489891 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.771-15C>G SNV Likely benign 513797 rs201328384 12:57891925-57891925 12:57498142-57498142 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.2112C>T (p.Asp704=) SNV Likely benign 513873 rs374371748 1:12069691-12069691 1:12009634-12009634 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.1809G>A (p.Gly603=) SNV Likely benign 507952 rs148280593 6:110098183-110098183 6:109776980-109776980 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.2873-18T>C SNV Likely benign 516658 rs113514936 5:148406333-148406333 5:149026770-149026770 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.1949-15C>T SNV Likely benign 506926 rs778444771 6:110107490-110107490 6:109786287-109786287 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1904-18T>C SNV Likely benign 509792 rs41275991 7:30671845-30671845 7:30632229-30632229 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.438C>T (p.Tyr146=) SNV Likely benign 513857 rs764884119 14:102445749-102445749 14:101979412-101979412 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.579T>C (p.Ala193=) SNV Likely benign 519381 rs749728556 1:156104259-156104259 1:156134468-156134468 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNAJB2 NM_006736.6(DNAJB2):c.249A>G (p.Ala83=) SNV Likely benign 540533 rs576058376 2:220146680-220146680 2:219281958-219281958 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DCTN1 NM_004082.4(DCTN1):c.3558G>A (p.Met1186Ile) SNV Likely benign 536160 rs200834352 2:74589828-74589828 2:74362701-74362701 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy RAB7A NM_004637.5(RAB7A):c.321C>T (p.Leu107=) SNV Likely benign 532743 rs749227632 3:128525355-128525355 3:128806512-128806512 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.918C>T (p.Cys306=) SNV Likely benign 543511 rs369159531 6:110064354-110064354 6:109743151-109743151 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3723G>A (p.Ala1241=) SNV Likely benign 543478 rs777895612 5:148384418-148384418 5:149004855-149004855 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FBXO38 NM_205836.3(FBXO38):c.931C>A (p.Leu311Ile) SNV Likely benign 541003 rs142117467 5:147788749-147788749 5:148409186-148409186 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.58G>A (p.Gly20Arg) SNV Likely benign 449454 rs764970185 12:110252544-110252544 12:109814739-109814739 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy RAB7A NM_004637.5(RAB7A):c.21G>A (p.Val7=) SNV Likely benign 464094 rs140857794 3:128514231-128514231 3:128795388-128795388 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy RAB7A NM_004637.5(RAB7A):c.180+9A>G SNV Likely benign 464093 rs762831187 3:128516921-128516921 3:128798078-128798078 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNAJB2 NM_006736.6(DNAJB2):c.703C>G (p.Gln235Glu) SNV Likely benign 439620 rs148615702 2:220149437-220149437 2:219284715-219284715 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.2459+7T>G SNV Likely benign 447335 rs575271308 6:110113874-110113874 6:109792671-109792671 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.837-16dup duplication Likely benign 418192 rs368420700 12:32755074-32755075 12:32602140-32602141 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.5(MTMR2):c.1770+7_1770+19delinsC indel Likely benign 418333 rs1555056865 11:95569293-95569305 11:95836129-95836141 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.2611-35AATC[6] short repeat Likely benign 418588 rs202029370 11:9871780-9871781 11:9850233-9850234 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1904-19del deletion Likely benign 420733 rs745958570 7:30671844-30671844 7:30632228-30632228 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.236C>T (p.Thr79Ile) SNV Likely benign 414873 rs145115430 12:32735037-32735037 12:32582103-32582103 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy EGR2 NM_000399.5(EGR2):c.1242G>A (p.Lys414=) SNV Likely benign 415906 rs554456422 10:64573156-64573156 10:62813396-62813396 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.4(NEFL):c.1006C>G (p.Leu336Val) SNV Likely benign 417206 rs551896980 8:24813024-24813024 8:24955510-24955510 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy EGR2 NM_000399.5(EGR2):c.222A>G (p.Pro74=) SNV Likely benign 415905 rs201068734 10:64574176-64574176 10:62814416-62814416 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1839C>T (p.Leu613=) SNV Likely benign 414374 rs182893450 5:148407456-148407456 5:149027893-149027893 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.4615-9C>T SNV Likely benign 414916 rs375366137 1:10428516-10428516 1:10368458-10368458 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*2512G>A SNV Likely benign 388104 rs148655811 19:40901952-40901952 19:40396045-40396045 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.1419T>C (p.Asp473=) SNV Likely benign 414912 rs146364486 1:10352147-10352147 1:10292089-10292089 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.4(NEFL):c.227T>C (p.Val76Ala) SNV Benign/Likely benign 66686 rs58907919 8:24813803-24813803 8:24956289-24956289 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.4(NEFL):c.667C>T (p.Leu223=) SNV Benign/Likely benign 66696 rs60156239 8:24813363-24813363 8:24955849-24955849 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.4(NEFL):c.1212C>T (p.Ser404=) SNV Benign/Likely benign 66673 rs60547413 8:24811267-24811267 8:24953753-24953753 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.4(NEFL):c.1402G>A (p.Asp468Asn) SNV Benign/Likely benign 66676 rs57153321 8:24811077-24811077 8:24953563-24953563 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.612G>A (p.Leu204=) SNV Benign/Likely benign 48071 rs12117552 1:156104292-156104292 1:156134501-156134501 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1911C>T (p.Phe637=) SNV Benign/Likely benign 48055 rs117939448 1:156108491-156108491 1:156138700-156138700 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1584G>A (p.Thr528=) SNV Benign/Likely benign 48044 rs80356812 1:156106999-156106999 1:156137208-156137208 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) SNV Benign/Likely benign 126480 rs187864727 12:110240859-110240859 12:109803054-109803054 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.13372+4C>T SNV Benign/Likely benign 128931 rs17541657 14:102515010-102515010 14:102048673-102048673 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.13372+9G>A SNV Benign/Likely benign 128932 rs1004903 14:102515015-102515015 14:102048678-102048678 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=) SNV Benign/Likely benign 128933 rs17512082 14:102453876-102453876 14:101987539-101987539 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) SNV Benign/Likely benign 128935 rs12893215 14:102463407-102463407 14:101997070-101997070 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) SNV Benign/Likely benign 128936 rs34690489 14:102466430-102466430 14:102000093-102000093 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) SNV Benign/Likely benign 128937 rs17540957 14:102466655-102466655 14:102000318-102000318 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=) SNV Benign/Likely benign 128938 rs2273437 14:102431074-102431074 14:101964737-101964737 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=) SNV Benign/Likely benign 128939 rs3818188 14:102446161-102446161 14:101979824-101979824 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) SNV Benign/Likely benign 128940 rs17512439 14:102481564-102481564 14:102015227-102015227 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=) SNV Benign/Likely benign 128941 rs17541158 14:102482399-102482399 14:102016062-102016062 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) SNV Benign/Likely benign 128942 rs17541179 14:102482736-102482736 14:102016399-102016399 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=) SNV Benign/Likely benign 128943 rs17512460 14:102483120-102483120 14:102016783-102016783 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) SNV Benign/Likely benign 128944 rs8010870 14:102493761-102493761 14:102027424-102027424 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.4161A>G (p.Pro1387=) SNV Benign/Likely benign 129400 rs12125492 1:10421878-10421878 1:10361820-10361820 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) SNV Benign/Likely benign 128924 rs17512054 14:102453073-102453073 14:101986736-101986736 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=) SNV Benign/Likely benign 128927 rs17541505 14:102504838-102504838 14:102038501-102038501 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln) SNV Benign/Likely benign 128928 rs10129889 14:102508056-102508056 14:102041719-102041719 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=) SNV Benign/Likely benign 128929 rs13749 14:102514227-102514227 14:102047890-102047890 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.684C>T (p.Ser228=) SNV Benign/Likely benign 129619 rs34307129 1:161275729-161275729 1:161305939-161305939 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1157+16G>A SNV Benign/Likely benign 36474 rs534807 1:156105928-156105928 1:156136137-156136137 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1761G>A (p.Leu587=) SNV Benign/Likely benign 36477 rs80356813 1:156108341-156108341 1:156138550-156138550 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.51C>T (p.Ser17=) SNV Benign/Likely benign 36479 rs11549668 1:156084760-156084760 1:156114969-156114969 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) SNV Benign/Likely benign 188100 rs2230310 7:30649268-30649268 7:30609652-30609652 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.1711C>A (p.Pro571Thr) SNV Benign/Likely benign 188396 rs144693221 12:32778663-32778663 12:32625729-32625729 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.2691C>G (p.Asn897Lys) SNV Benign/Likely benign 188311 rs73795753 5:148406604-148406604 5:149027041-149027041 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.9G>A (p.Glu3=) SNV Benign/Likely benign 193215 rs77586767 7:75932038-75932038 7:76302721-76302721 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1179G>A (p.Met393Ile) SNV Benign/Likely benign 194091 rs12069578 1:12064067-12064067 1:12004010-12004010 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.1560C>T (p.Ile520=) SNV Benign/Likely benign 194280 rs61748364 12:32777927-32777927 12:32624993-32624993 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.854-4G>A SNV Benign/Likely benign 198246 rs371733585 12:110236721-110236721 12:109798916-109798916 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) SNV Benign/Likely benign 198352 rs138428684 14:102507911-102507911 14:102041574-102041574 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.3507G>A (p.Pro1169=) SNV Benign/Likely benign 196788 rs147318592 1:10403302-10403302 1:10343244-10343244 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.2323G>A (p.Gly775Ser) SNV Benign/Likely benign 194989 rs141330687 11:9878045-9878045 11:9856498-9856498 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.132C>T (p.Gly44=) SNV Benign/Likely benign 195162 rs78807992 11:68673582-68673582 11:68906114-68906114 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2730C>G (p.Gly910=) SNV Benign/Likely benign 194370 rs139416105 11:68705768-68705768 11:68938300-68938300 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1452G>A (p.Thr484=) SNV Benign/Likely benign 194409 rs150043585 1:12064941-12064941 1:12004884-12004884 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.1659C>G (p.Ala553=) SNV Benign/Likely benign 194438 rs188104446 12:32778611-32778611 12:32625677-32625677 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.688C>T (p.Arg230Cys) SNV Benign/Likely benign 157521 rs587781246 X:70444245-70444245 X:71224395-71224395 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.781-6A>G SNV Benign/Likely benign 139322 rs138268337 9:94812355-94812355 9:92050073-92050073 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.4(NEFL):c.1170-13T>C SNV Benign/Likely benign 138510 rs76347846 8:24811322-24811322 8:24953808-24953808 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*936C>T SNV Benign/Likely benign 138817 rs118071705 19:40903528-40903528 19:40397621-40397621 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.3292C>G (p.Leu1098Val) SNV Benign/Likely benign 138964 rs117957652 11:9861208-9861208 11:9839661-9839661 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AIFM1 NM_004208.4(AIFM1):c.1329C>T (p.Tyr443=) SNV Benign/Likely benign 136323 rs143792929 X:129267407-129267407 X:130133432-130133432 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.1090A>T (p.Met364Leu) SNV Benign/Likely benign 137375 rs2295837 6:110064928-110064928 6:109743725-109743725 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.27C>T (p.Ile9=) SNV Benign/Likely benign 137376 rs141040807 6:110012665-110012665 6:109691462-109691462 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.256+9G>A SNV Benign/Likely benign 137568 rs118015540 11:68673715-68673715 11:68906247-68906247 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.2518G>A (p.Glu840Lys) SNV Benign/Likely benign 137726 rs55728855 12:110221524-110221524 12:109783719-109783719 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TTR NM_000371.3(TTR):c.70-7C>T SNV Benign/Likely benign 137848 rs587780990 18:29172852-29172852 18:31592889-31592889 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.408A>T (p.Val136=) SNV Benign/Likely benign 138210 rs78814413 1:12056309-12056309 1:11996252-11996252 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.150C>A (p.Ile50=) SNV Benign/Likely benign 138219 rs78841746 1:12049375-12049375 1:11989318-11989318 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.165C>T (p.Thr55=) SNV Benign/Likely benign 138220 rs77458527 1:12049390-12049390 1:11989333-11989333 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3362C>T (p.Ala1121Val) SNV Benign/Likely benign 234910 rs115577291 5:148388530-148388530 5:149008967-149008967 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.1543-8T>C SNV Benign/Likely benign 224946 rs115061722 12:32777902-32777902 12:32624968-32624968 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.1727C>G (p.Ala576Gly) SNV Benign/Likely benign 220933 rs193291405 19:50338843-50338843 19:49835586-49835586 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LITAF NM_001136473.1(LITAF):c.330C>T (p.Asn110=) SNV Benign/Likely benign 219573 rs139116481 16:11647436-11647436 16:11553580-11553580 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy EGR2 NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) SNV Benign/Likely benign 219918 rs138967272 10:64573046-64573046 10:62813286-62813286 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.608+8dup duplication Benign/Likely benign 220468 rs139613776 1:10327623-10327624 1:10267565-10267566 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.4882G>A (p.Glu1628Lys) SNV Benign/Likely benign 219797 rs143669846 1:10434447-10434447 1:10374389-10374389 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.5112A>G (p.Ala1704=) SNV Benign/Likely benign 220407 rs75413741 1:10435065-10435065 1:10375007-10375007 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.66+10C>T SNV Benign/Likely benign 220332 rs200063827 6:110012714-110012714 6:109691511-109691511 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) SNV Benign/Likely benign 220422 rs62636572 7:30634548-30634548 7:30594932-30594932 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1962C>T (p.Ile654=) SNV Benign/Likely benign 219915 rs201927627 7:30671921-30671921 7:30632305-30632305 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.1794C>T (p.Ala598=) SNV Benign/Likely benign 215536 rs185100172 19:50339031-50339031 19:49835774-49835774 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1443C>T (p.Asp481=) SNV Benign/Likely benign 215534 rs146666910 5:148407852-148407852 5:149028289-149028289 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1806C>T (p.Ser602=) SNV Benign/Likely benign 214635 rs201258935 1:12066684-12066684 1:12006627-12006627 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1495+9C>T SNV Benign/Likely benign 215515 rs375494746 1:12064993-12064993 1:12004936-12004936 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.3497C>T (p.Pro1166Leu) SNV Benign/Likely benign 215882 rs141224290 1:10403292-10403292 1:10343234-10343234 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.2498A>G (p.Asn833Ser) SNV Benign/Likely benign 215533 rs116035946 12:110221544-110221544 12:109783739-109783739 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.2248G>A (p.Val750Ile) SNV Benign/Likely benign 215919 rs148171058 12:110224603-110224603 12:109786798-109786798 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.1546A>G (p.Ile516Val) SNV Benign/Likely benign 215918 rs115976458 12:110231773-110231773 12:109793968-109793968 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.1308C>T (p.Ile436=) SNV Benign/Likely benign 215532 rs141244183 12:110234354-110234354 12:109796549-109796549 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.769C>G (p.Leu257Val) SNV Benign/Likely benign 215921 rs56217500 12:110238507-110238507 12:109800702-109800702 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.712+10C>T SNV Benign/Likely benign 215920 rs115657305 12:110240786-110240786 12:109802981-109802981 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LITAF NM_001136473.1(LITAF):c.6G>A (p.Ser2=) SNV Benign/Likely benign 216599 rs147187481 16:11650581-11650581 16:11556725-11556725 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.165G>A (p.Thr55=) SNV Benign/Likely benign 195384 rs77400039 19:50321858-50321858 19:49818601-49818601 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) SNV Benign/Likely benign 210876 rs138407720 14:102481666-102481666 14:102015329-102015329 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.159C>T (p.Ser53=) SNV Benign/Likely benign 214639 rs61733200 1:12049384-12049384 1:11989327-11989327 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.11016G>A (p.Ser3672=) SNV Benign/Likely benign 210860 rs199679500 14:102504904-102504904 14:102038567-102038567 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.810+12C>T SNV Benign/Likely benign 200926 rs746914371 1:156104778-156104778 1:156134987-156134987 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.4395+2C>T SNV Benign/Likely benign 210869 rs192594531 14:102467693-102467693 14:102001356-102001356 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.2337C>T (p.Ser779=) SNV Benign/Likely benign 241609 rs140730386 11:9878031-9878031 11:9856484-9856484 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.1713C>G (p.Ile571Met) SNV Benign/Likely benign 241386 rs185933892 12:110230568-110230568 12:109792763-109792763 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.396G>A (p.Pro132=) SNV Benign/Likely benign 241388 rs114101785 12:110246264-110246264 12:109808459-109808459 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*2306G>A SNV Benign/Likely benign 242180 rs116855701 19:40902158-40902158 19:40396251-40396251 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=) SNV Benign/Likely benign 239002 rs117189734 14:102446275-102446275 14:101979938-101979938 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) SNV Benign/Likely benign 238992 rs80096622 14:102498790-102498790 14:102032453-102032453 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=) SNV Benign/Likely benign 238993 rs115992196 14:102508406-102508406 14:102042069-102042069 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1842C>T (p.Asp614=) SNV Benign/Likely benign 241500 rs138411915 5:148407453-148407453 5:149027890-149027890 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) SNV Benign/Likely benign 239028 rs61751217 7:75932207-75932207 7:76302890-76302890 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.567C>T (p.Ala189=) SNV Benign/Likely benign 239029 rs528301561 7:75933439-75933439 7:76304122-76304122 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.2107T>C (p.Trp703Arg) SNV Benign/Likely benign 240956 rs551543997 1:10381802-10381802 1:10321744-10321744 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.2192A>G (p.Asn731Ser) SNV Benign/Likely benign 240957 rs117525287 1:10381887-10381887 1:10321829-10321829 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.3917+6A>G SNV Benign/Likely benign 240958 rs76519832 1:10412800-10412800 1:10352742-10352742 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.4660G>A (p.Val1554Met) SNV Benign/Likely benign 240959 rs77172218 1:10428570-10428570 1:10368512-10368512 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.5294C>T (p.Pro1765Leu) SNV Benign/Likely benign 240960 rs61999305 1:10436626-10436626 1:10376568-10376568 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1031+14T>G SNV Benign/Likely benign 258530 rs189589556 7:30651875-30651875 7:30612259-30612259 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.-19C>T SNV Benign/Likely benign 258165 rs199602956 7:75932011-75932011 7:76302694-76302694 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.*14C>T SNV Benign/Likely benign 260444 rs114136062 6:110146482-110146482 6:109825279-109825279 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.808A>G (p.Thr270Ala) SNV Benign/Likely benign 260452 rs61729092 6:110062679-110062679 6:109741476-109741476 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1538-20C>T SNV Benign/Likely benign 258558 rs147148090 11:68701912-68701912 11:68934444-68934444 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2979G>A (p.Thr993=) SNV Benign/Likely benign 258574 rs201760315 11:68707196-68707196 11:68939728-68939728 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=) SNV Benign/Likely benign 258562 rs34617762 11:68673630-68673630 11:68906162-68906162 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1821C>T (p.His607=) SNV Benign/Likely benign 258563 rs34658653 11:68703769-68703769 11:68936301-68936301 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1827G>A (p.Ala609=) SNV Benign/Likely benign 258564 rs541245852 11:68703775-68703775 11:68936307-68936307 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.447-16G>T SNV Benign/Likely benign 260450 rs200890189 6:110053824-110053824 6:109732621-109732621 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.184-6_184-5del deletion Benign/Likely benign 260541 rs138324955 1:10318544-10318545 1:10258486-10258487 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.409G>A (p.Val137Ile) SNV Benign/Likely benign 246523 rs143421325 14:102445720-102445720 14:101979383-101979383 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.1539C>T (p.Gly513=) SNV Benign/Likely benign 245675 rs141295418 12:110231780-110231780 12:109793975-109793975 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.12513+10T>G SNV Benign/Likely benign 387817 rs17512839 14:102509095-102509095 14:102042758-102042758 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.7290C>T (p.Asn2430=) SNV Benign/Likely benign 382442 rs112811548 14:102482240-102482240 14:102015903-102015903 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.10293C>T (p.Asn3431=) SNV Benign/Likely benign 384931 rs75075497 14:102499701-102499701 14:102033364-102033364 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.1255-7C>T SNV Benign/Likely benign 367543 rs7863487 9:94797172-94797172 9:92034890-92034890 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.1254+10C>T SNV Benign/Likely benign 367544 rs200704785 9:94800520-94800520 9:92038238-92038238 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.452G>T (p.Arg151Leu) SNV Benign/Likely benign 367550 rs45461899 9:94830356-94830356 9:92068074-92068074 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.-5A>G SNV Benign/Likely benign 312615 rs17511858 14:102431024-102431024 14:101964687-101964687 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu) SNV Benign/Likely benign 312653 rs141696238 14:102506647-102506647 14:102040310-102040310 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy EGR2 NM_000399.5(EGR2):c.246C>G (p.Val82=) SNV Benign/Likely benign 300279 rs144217451 10:64574152-64574152 10:62814392-62814392 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.549G>A (p.Glu183=) SNV Benign/Likely benign 307140 rs141908793 12:110246111-110246111 12:109808306-109808306 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.4096C>T (p.Pro1366Ser) SNV Benign/Likely benign 306584 rs115927577 11:9834138-9834138 11:9812591-9812591 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.6221+13G>T SNV Benign/Likely benign 312634 rs17541088 14:102476436-102476436 14:102010099-102010099 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_001243571.2(MTMR2):c.354+11T>C SNV Benign/Likely benign 306543 rs182582445 11:95591684-95591684 11:95858520-95858520 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.5(MTMR2):c.1805C>G (p.Ala602Gly) SNV Benign/Likely benign 306535 rs76784113 11:95568581-95568581 11:95835417-95835417 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.2611-35AATC[4] short repeat Benign/Likely benign 306594 rs202029370 11:9871781-9871784 11:9850234-9850237 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.751-8C>G SNV Benign/Likely benign 365018 rs367823841 9:130241205-130241205 9:127478926-127478926 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.2043C>T (p.Gly681=) SNV Benign/Likely benign 307124 rs375633647 12:110226370-110226370 12:109788565-109788565 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.760G>A (p.Val254Met) SNV Benign/Likely benign 307137 rs143548402 12:110238516-110238516 12:109800711-109800711 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.270C>T (p.Asp90=) SNV Benign/Likely benign 360002 rs369898799 7:30638459-30638459 7:30598843-30598843 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.699C>T (p.Val233=) SNV Benign/Likely benign 360004 rs187937286 7:30643152-30643152 7:30603536-30603536 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.387C>T (p.Gly129=) SNV Benign/Likely benign 367551 rs141265918 9:94842338-94842338 9:92080056-92080056 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.3(NDRG1):c.199A>G (p.Met67Val) SNV Benign/Likely benign 362040 rs2233319 8:134276796-134276796 8:133264553-133264553 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.1137-23GT[6] short repeat Benign/Likely benign 367546 rs147137401 9:94800660-94800661 9:92038378-92038379 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) SNV Benign/Likely benign 360012 rs17159287 7:30655643-30655643 7:30616027-30616027 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.3726+6A>C SNV Benign/Likely benign 291575 rs114266141 1:10407891-10407891 1:10347833-10347833 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.4808+9C>T SNV Benign/Likely benign 291583 rs72867431 1:10431329-10431329 1:10371271-10371271 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.3948T>C (p.Asp1316=) SNV Benign/Likely benign 291577 rs116089798 1:10421017-10421017 1:10360959-10360959 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.3121+9A>G SNV Benign/Likely benign 291566 rs149566646 1:10397270-10397270 1:10337212-10337212 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.3285-15A>T SNV Benign/Likely benign 291569 rs200470260 1:10399812-10399812 1:10339754-10339754 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*2248C>T SNV Benign/Likely benign 289454 rs56743160 19:40902216-40902216 19:40396309-40396309 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.1227G>A (p.Thr409=) SNV Benign/Likely benign 291522 rs17034660 1:10342522-10342522 1:10282464-10282464 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.363+6A>C SNV Benign/Likely benign 291468 rs114084418 1:10318736-10318736 1:10258678-10258678 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.238G>A (p.Ala80Thr) SNV Benign/Likely benign 287306 rs112507765 5:148427466-148427466 5:149047903-149047903 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.344C>T (p.Thr115Met) SNV Benign/Likely benign 287979 rs181657861 11:68675700-68675700 11:68908232-68908232 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile) SNV Benign/Likely benign 287303 rs141292904 9:94794758-94794758 9:92032476-92032476 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2295C>T (p.His765=) SNV Benign/Likely benign 284649 rs149185954 11:68704243-68704243 11:68936775-68936775 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.133C>G (p.Arg45Gly) SNV Benign/Likely benign 284652 rs115090201 19:40909664-40909664 19:40403757-40403757 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.1744C>T (p.Leu582=) SNV Benign/Likely benign 261415 rs35078611 12:110230537-110230537 12:109792732-109792732 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.1824+4C>T SNV Benign/Likely benign 283590 rs147259744 12:110230453-110230453 12:109792648-109792648 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3294C>T (p.Thr1098=) SNV Benign/Likely benign 351900 rs193067884 5:148389866-148389866 5:149010303-149010303 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.2913C>T (p.Ser971=) SNV Benign/Likely benign 351902 rs13436308 5:148406275-148406275 5:149026712-149026712 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.3(NDRG1):c.306C>T (p.Gly102=) SNV Benign/Likely benign 362039 rs2233322 8:134274310-134274310 8:133262067-133262067 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1420C>A (p.Arg474=) SNV Benign/Likely benign 360013 rs113958280 7:30661069-30661069 7:30621453-30621453 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.558C>T (p.Ser186=) SNV Benign/Likely benign 351917 rs141289653 5:148421152-148421152 5:149041589-149041589 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3834G>A (p.Ala1278=) SNV Benign/Likely benign 351895 rs117804174 5:148384307-148384307 5:149004744-149004744 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy RAB7A NM_004637.5(RAB7A):c.87G>A (p.Val29=) SNV Benign/Likely benign 343157 rs145441548 3:128516819-128516819 3:128797976-128797976 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.2736C>T (p.Asp912=) SNV Benign/Likely benign 291563 rs150831576 1:10386367-10386367 1:10326309-10326309 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.504G>A (p.Val168=) SNV Benign/Likely benign 293313 rs145592910 1:161276199-161276199 1:161306409-161306409 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.891C>T (p.Ala297=) SNV Benign/Likely benign 292373 rs11554508 1:12061532-12061532 1:12001475-12001475 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.3260A>G (p.Tyr1087Cys) SNV Benign/Likely benign 291567 rs2297881 1:10397567-10397567 1:10337509-10337509 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.3285-15del deletion Benign/Likely benign 291568 rs3215996 1:10399812-10399812 1:10339754-10339754 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.*2T>C SNV Benign/Likely benign 291585 rs148690591 1:10436647-10436647 1:10376589-10376589 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.-4-13G>T SNV Benign/Likely benign 292370 rs373679523 1:12049209-12049209 1:11989152-11989152 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.11400G>A (p.Gln3800=) SNV Benign/Likely benign 391785 rs182767009 14:102505531-102505531 14:102039194-102039194 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.573T>C (p.Leu191=) SNV Benign/Likely benign 385089 rs34771861 7:75933445-75933445 7:76304128-76304128 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.7587G>A (p.Ala2529=) SNV Benign/Likely benign 392442 rs201720217 14:102482799-102482799 14:102016462-102016462 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.*3G>A SNV Benign/Likely benign 381069 rs372949830 11:68707202-68707202 11:68939734-68939734 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.2472G>A (p.Ser824=) SNV Benign/Likely benign 378763 rs149988106 12:110221570-110221570 12:109783765-109783765 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.1658+15C>T SNV Benign/Likely benign 380668 rs200083069 12:110231317-110231317 12:109793512-109793512 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.1585-18C>T SNV Benign/Likely benign 380332 rs201974634 12:110231423-110231423 12:109793618-109793618 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.4(NEFL):c.855C>T (p.Thr285=) SNV Benign/Likely benign 383727 rs1065083 8:24813175-24813175 8:24955661-24955661 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.513+17G>C SNV Benign/Likely benign 378499 rs73410819 11:10051295-10051295 11:10029748-10029748 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.280-14C>T SNV Benign/Likely benign 380040 rs183195960 12:57883193-57883193 12:57489410-57489410 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.1294-5C>T SNV Benign/Likely benign 388761 rs149946100 12:57898003-57898003 12:57504220-57504220 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1294G>A (p.Ala432Thr) SNV Benign/Likely benign 386157 rs116012780 11:68700825-68700825 11:68933357-68933357 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1770T>C (p.Phe590=) SNV Benign/Likely benign 386158 rs138997061 11:68703718-68703718 11:68936250-68936250 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2025C>T (p.Thr675=) SNV Benign/Likely benign 381068 rs138396245 11:68703973-68703973 11:68936505-68936505 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.1974T>C (p.Ser658=) SNV Benign/Likely benign 387878 rs140336379 9:130263350-130263350 9:127501071-127501071 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.894C>T (p.Ile298=) SNV Benign/Likely benign 379795 rs779808918 5:148417965-148417965 5:149038402-149038402 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1177+10G>A SNV Benign/Likely benign 384797 rs139257109 5:148408230-148408230 5:149028667-149028667 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.2204+11G>A SNV Benign/Likely benign 382084 rs202080192 12:57908852-57908852 12:57515069-57515069 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1299G>A (p.Ser433=) SNV Benign/Likely benign 392398 rs140904010 5:148407996-148407996 5:149028433-149028433 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.12G>A (p.Pro4=) SNV Benign/Likely benign 378088 rs369823958 1:156084721-156084721 1:156114930-156114930 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.564C>T (p.Cys188=) SNV Benign/Likely benign 390697 rs536007087 1:12057443-12057443 1:11997386-11997386 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.*15G>A SNV Benign/Likely benign 378136 rs141339523 1:12071637-12071637 1:12011580-12011580 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*2169C>T SNV Benign/Likely benign 329271 rs118003416 19:40902295-40902295 19:40396388-40396388 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.1753+7A>G SNV Benign/Likely benign 374666 rs117914586 12:57906143-57906143 12:57512360-57512360 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.-6G>A SNV Benign/Likely benign 368624 rs201344743 X:70443552-70443552 X:71223702-71223702 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.507C>T (p.Asp169=) SNV Benign/Likely benign 368626 rs373334326 X:70444064-70444064 X:71224214-71224214 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*759G>A SNV Benign/Likely benign 329284 rs76756143 19:40903705-40903705 19:40397798-40397798 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*1830G>A SNV Benign/Likely benign 329274 rs139586219 19:40902634-40902634 19:40396727-40396727 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*4249G>C SNV Benign/Likely benign 329250 rs76088917 19:40900215-40900215 19:40394308-40394308 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AIFM1 NM_004208.4(AIFM1):c.72C>T (p.Cys24=) SNV Benign/Likely benign 367894 rs373609902 X:129299559-129299559 X:130165585-130165585 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*3907C>T SNV Benign/Likely benign 329255 rs139950446 19:40900557-40900557 19:40394650-40394650 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*4051G>A SNV Benign/Likely benign 329253 rs143289108 19:40900413-40900413 19:40394506-40394506 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.234C>G (p.Pro78=) SNV Benign/Likely benign 329878 rs74863643 19:50322482-50322482 19:49819225-49819225 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*1486C>T SNV Benign/Likely benign 329277 rs76960467 19:40902978-40902978 19:40397071-40397071 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*2980C>T SNV Benign/Likely benign 329262 rs201792838 19:40901484-40901484 19:40395577-40395577 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.79-6C>T SNV Benign/Likely benign 321862 rs201682989 17:15162516-15162516 17:15259199-15259199 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.732G>A (p.Ser244=) SNV Benign/Likely benign 308289 rs34555341 12:32754253-32754253 12:32601319-32601319 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=) SNV Benign/Likely benign 312639 rs139109090 14:102482360-102482360 14:102016023-102016023 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.2517C>T (p.Asp839=) SNV Benign/Likely benign 307121 rs546957932 12:110221525-110221525 12:109783720-109783720 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.1825-15C>T SNV Benign/Likely benign 307125 rs200602134 12:110230249-110230249 12:109792444-109792444 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.936G>A (p.Ala312=) SNV Benign/Likely benign 307135 rs202084699 12:110236635-110236635 12:109798830-109798830 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.4533A>G (p.Thr1511=) SNV Benign/Likely benign 306582 rs79251068 11:9817415-9817415 11:9795868-9795868 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.597C>A (p.Ala199=) SNV Benign/Likely benign 379339 rs149788020 19:50333114-50333114 19:49829857-49829857 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.3(NDRG1):c.879G>A (p.Pro293=) SNV Benign/Likely benign 416508 rs2233340 8:134256610-134256610 8:133244367-133244367 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.5(MTMR2):c.240A>C (p.Pro80=) SNV Benign/Likely benign 414070 rs201920176 11:95598787-95598787 11:95865623-95865623 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.93C>T (p.Tyr31=) SNV Benign/Likely benign 415890 rs61742955 19:50321691-50321691 19:49818434-49818434 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.2056C>T (p.Leu686=) SNV Benign/Likely benign 415888 rs201969940 19:50339573-50339573 19:49836316-49836316 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.1434G>A (p.Lys478=) SNV Benign/Likely benign 415889 rs181389801 19:50335624-50335624 19:49832367-49832367 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.57C>T (p.Pro19=) SNV Benign/Likely benign 440358 rs112408790 12:110252545-110252545 12:109814740-109814740 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.28G>C (p.Ala10Pro) SNV Benign/Likely benign 440359 rs376436045 12:110252574-110252574 12:109814769-109814769 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.4509C>T (p.Ser1503=) SNV Benign/Likely benign 434970 rs116089522 14:102467985-102467985 14:102001648-102001648 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.6762C>T (p.Ile2254=) SNV Benign/Likely benign 434973 rs150603103 14:102478355-102478355 14:102012018-102012018 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNAJB2 NM_006736.6(DNAJB2):c.298G>A (p.Glu100Lys) SNV Benign/Likely benign 473302 rs139406455 2:220146729-220146729 2:219282007-219282007 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.4530C>T (p.Ser1510=) SNV Benign/Likely benign 543249 rs765541693 1:10425622-10425622 1:10365564-10365564 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.257-20A>G SNV Benign/Likely benign 506689 rs201905359 14:102442029-102442029 14:101975692-101975692 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.1278G>A (p.Thr426=) SNV Benign/Likely benign 493123 rs139179261 12:110234384-110234384 12:109796579-109796579 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.6795C>T (p.Tyr2265=) SNV Benign/Likely benign 472547 rs200339812 14:102478388-102478388 14:102012051-102012051 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.9762+9T>G SNV Benign/Likely benign 472566 rs376545350 14:102496284-102496284 14:102029947-102029947 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.901C>T (p.Arg301Cys) SNV Benign/Likely benign 475433 rs139661803 12:57892216-57892216 12:57498433-57498433 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3479-8A>G SNV Benign/Likely benign 476907 rs147800229 5:148386648-148386648 5:149007085-149007085 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.4(NEFL):c.582A>C (p.Glu194Asp) SNV Benign/Likely benign 464927 rs532240912 8:24813448-24813448 8:24955934-24955934 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.90T>C (p.His30=) SNV Benign/Likely benign 467775 rs555369956 8:75262786-75262786 8:74350551-74350551 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.1374+9C>T SNV Benign/Likely benign 543262 rs574703435 19:50335423-50335423 19:49832166-49832166 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.3015+18C>G SNV Benign/Likely benign 668740 14:102458028-102458028 14:101991691-101991691 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.30C>T (p.Leu10=) SNV Benign/Likely benign 637426 X:70443587-70443587 X:71223737-71223737 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.86+7G>C SNV Benign/Likely benign 755475 11:68671513-68671513 11:68904045-68904045 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.846C>G (p.Thr282=) SNV Benign/Likely benign 793749 9:130241727-130241727 9:127479448-127479448 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.819+14C>T SNV Benign/Likely benign 811694 19:50333489-50333489 19:49830232-49830232 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LITAF NM_001136473.1(LITAF):c.357C>T (p.Cys119=) SNV Benign/Likely benign 695951 16:11647409-11647409 16:11553553-11553553 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GJB1 NM_000166.6(GJB1):c.627G>T (p.Val209=) SNV Benign/Likely benign 696871 X:70444184-70444184 X:71224334-71224334 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.5097-9C>T SNV Benign/Likely benign 695344 1:10434903-10434903 1:10374845-10374845 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.1062C>T (p.Ser354=) SNV Benign/Likely benign 696876 19:50334105-50334105 19:49830848-49830848 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.9636C>G (p.Val3212=) SNV Benign/Likely benign 698968 14:102496043-102496043 14:102029706-102029706 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.4111G>C (p.Val1371Leu) SNV Benign/Likely benign 696933 11:9834123-9834123 11:9812576-9812576 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.4(MFN2):c.1529G>A (p.Arg510Gln) SNV Benign/Likely benign 696326 1:12065801-12065801 1:12005744-12005744 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.366C>T (p.His122=) SNV Benign 305832 rs144401213 11:68675722-68675722 11:68908254-68908254 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.726C>G (p.Ala242=) SNV Benign 305837 rs76690064 11:68682305-68682305 11:68914837-68914837 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.1515T>C (p.Ser505=) SNV Benign 308298 rs60803891 12:32777359-32777359 12:32624425-32624425 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.1636-7T>C SNV Benign 308299 rs11052113 12:32778581-32778581 12:32625647-32625647 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.435C>T (p.Asp145=) SNV Benign 308287 rs904582 12:32735236-32735236 12:32582302-32582302 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy INF2 NM_022489.4(INF2):c.*10C>T SNV Benign 312713 rs142710295 14:105185140-105185140 14:104718803-104718803 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*2932C>T SNV Benign 329264 rs61735546 19:40901532-40901532 19:40395625-40395625 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SEPTIN9 NM_001113491.2(SEPTIN9):c.538G>A (p.Ala180Thr) SNV Benign 325546 rs199861986 17:75398602-75398602 17:77402520-77402520 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*2222A>G SNV Benign 329270 rs61735531 19:40902242-40902242 19:40396335-40396335 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AIFM1 NM_004208.4(AIFM1):c.606-15C>T SNV Benign 367890 rs191297808 X:129279559-129279559 X:130145584-130145584 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LITAF NM_001136473.1(LITAF):c.274A>G (p.Ile92Val) SNV Benign 317782 rs4280262 16:11647492-11647492 16:11553636-11553636 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.*59A>C SNV Benign 321859 rs13422 17:15134175-15134175 17:15230858-15230858 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*3423A>G SNV Benign 329259 rs61733451 19:40901041-40901041 19:40395134-40395134 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*676G>A SNV Benign 329288 rs4803335 19:40903788-40903788 19:40397881-40397881 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AIFM1 NM_004208.4(AIFM1):c.273T>C (p.Asp91=) SNV Benign 367892 rs1139851 X:129283520-129283520 X:130149545-130149545 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.485-20C>G SNV Benign 377919 rs73345392 8:75274099-75274099 8:74361864-74361864 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.2157C>T (p.Ile719=) SNV Benign 379521 rs34768188 9:130265163-130265163 9:127502884-127502884 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.4185+20C>T SNV Benign 385832 rs74948967 14:102467421-102467421 14:102001084-102001084 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.1500A>G (p.Lys500=) SNV Benign 381454 rs2290297 12:57905612-57905612 12:57511829-57511829 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=) SNV Benign 377819 rs17512783 14:102505540-102505540 14:102039203-102039203 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.873C>T (p.Ala291=) SNV Benign 385405 rs79531790 12:57892042-57892042 12:57498259-57498259 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=) SNV Benign 377816 rs138418906 14:102452149-102452149 14:101985812-101985812 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.12684+14A>G SNV Benign 377820 rs200392758 14:102510396-102510396 14:102044059-102044059 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.1242T>C (p.Ile414=) SNV Benign 355038 rs61729087 6:110081557-110081557 6:109760354-109760354 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.249C>T (p.Ile83=) SNV Benign 365009 rs2243906 9:130219669-130219669 9:127457390-127457390 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.*7C>T SNV Benign 355050 rs113946190 6:110146475-110146475 6:109825272-109825272 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.2235T>G (p.Ala745=) SNV Benign 351906 rs78120278 5:148407060-148407060 5:149027497-149027497 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1761G>A (p.Thr587=) SNV Benign 360015 rs3886641 7:30668237-30668237 7:30628621-30628621 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.1584+18G>C SNV Benign 261414 rs10850750 12:110231717-110231717 12:109793912-109793912 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.670A>C (p.Arg224=) SNV Benign 261420 rs3825394 12:110240838-110240838 12:109803033-109803033 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy RAB7A NM_004637.5(RAB7A):c.423C>G (p.Ala141=) SNV Benign 285287 rs61758751 3:128526409-128526409 3:128807566-128807566 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.9469-20A>T SNV Benign 258076 rs2720210 14:102495856-102495856 14:102029519-102029519 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.4020G>A (p.Ser1340=) SNV Benign 284219 rs116302604 1:10421089-10421089 1:10361031-10361031 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.3(NDRG1):c.892-5C>T SNV Benign 362033 rs2233346 8:134254322-134254322 8:133242079-133242079 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.952A>G (p.Asn318Asp) SNV Benign 365021 rs1539567 9:130242166-130242166 9:127479887-127479887 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.1136+12A>G SNV Benign 367547 rs76562923 9:94808269-94808269 9:92045987-92045987 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.904-9C>T SNV Benign 365020 rs1539568 9:130242109-130242109 9:127479830-127479830 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.1912+5A>C SNV Benign 365033 rs2248822 9:130259618-130259618 9:127497339-127497339 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.2035G>A (p.Glu679Lys) SNV Benign 306602 rs7102464 11:9879838-9879838 11:9858291-9858291 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.548C>T (p.Ser183Leu) SNV Benign 365014 rs75690855 9:130230038-130230038 9:127467759-127467759 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.5(MTMR2):c.1756C>A (p.Arg586=) SNV Benign 306536 rs61735577 11:95569326-95569326 11:95836162-95836162 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_001243571.2(MTMR2):c.1288G>C (p.Glu430Gln) SNV Benign 306538 rs61735578 11:95571347-95571347 11:95838183-95838183 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.3111-6T>C SNV Benign 306587 rs16907139 11:9864323-9864323 11:9842776-9842776 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.2850C>T (p.Ile950=) SNV Benign 306592 rs74642088 11:9868587-9868587 11:9847040-9847040 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.854-5C>T SNV Benign 307136 rs116401333 12:110236722-110236722 12:109798917-109798917 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.93T>C (p.Phe31=) SNV Benign 301929 rs200263159 11:10215497-10215497 11:10193950-10193950 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2322A>G (p.Glu774=) SNV Benign 305852 rs11228414 11:68704270-68704270 11:68936802-68936802 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.1368G>A (p.Ala456=) SNV Benign 365028 rs34426300 9:130251743-130251743 9:127489464-127489464 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.993+8G>A SNV Benign 308292 rs12823621 12:32755259-32755259 12:32602325-32602325 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.1339-12C>T SNV Benign 308297 rs73083501 12:32772620-32772620 12:32619686-32619686 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.2532G>A (p.Ala844=) SNV Benign 380846 rs73344102 12:57910096-57910096 12:57516313-57516313 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.720+17C>T SNV Benign 260542 rs1339458 1:10328338-10328338 1:10268280-10268280 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.1162+18C>T SNV Benign 260540 rs41274456 1:10338204-10338204 1:10278146-10278146 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.647-18C>A SNV Benign 260451 rs2273752 6:110059510-110059510 6:109738307-109738307 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1939G>A (p.Val647Ile) SNV Benign 258565 rs77822399 11:68703887-68703887 11:68936419-68936419 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2011A>G (p.Thr671Ala) SNV Benign 258566 rs622082 11:68703959-68703959 11:68936491-68936491 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp) SNV Benign 258567 rs2236654 11:68704028-68704028 11:68936560-68936560 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2316C>T (p.Ser772=) SNV Benign 258570 rs546382 11:68704264-68704264 11:68936796-68936796 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.223G>A (p.Ala75Thr) SNV Benign 258568 rs2228206 11:68673673-68673673 11:68906205-68906205 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.602T>C (p.Leu201Ser) SNV Benign 258576 rs560096 11:68678962-68678962 11:68911494-68911494 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val) SNV Benign 258577 rs10896380 11:68682402-68682402 11:68914934-68914934 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1418+18A>G SNV Benign 258556 rs112575423 11:68700967-68700967 11:68933499-68933499 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_001243571.2(MTMR2):c.915C>T (p.Thr305=) SNV Benign 260685 rs566204 11:95580926-95580926 11:95847762-95847762 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.5(MTMR2):c.8A>C (p.Lys3Thr) SNV Benign 260686 rs3824874 11:95657111-95657111 11:95923947-95923947 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.4571-6C>T SNV Benign 261940 rs2645029 11:9812236-9812236 11:9790689-9790689 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.2459-9T>G SNV Benign 261418 rs115373018 12:110221592-110221592 12:109783787-109783787 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.1554C>T (p.Val518=) SNV Benign 258560 rs11228413 11:68701948-68701948 11:68934480-68934480 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2782G>A (p.Glu928Lys) SNV Benign 258573 rs2275996 11:68705820-68705820 11:68938352-68938352 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.1948+3A>G SNV Benign 260447 rs10499054 6:110106234-110106234 6:109785031-109785031 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) SNV Benign 258532 rs1049402 7:30634661-30634661 7:30595045-30595045 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.747T>C (p.Tyr249=) SNV Benign 258538 rs7808770 7:30649212-30649212 7:30609596-30609596 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.2559G>A (p.Ser853=) SNV Benign 260449 rs1127771 6:110146303-110146303 6:109825100-109825100 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.*11C>T SNV Benign 258164 rs1058872 7:75933501-75933501 7:76304184-76304184 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_001135242.2(NDRG1):c.64-6T>C SNV Benign 259916 rs2272653 8:134292516-134292516 8:133280273-133280273 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.507T>G (p.Ser169=) SNV Benign 261065 rs11554166 8:75274141-75274141 8:74361906-74361906 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy EGR2 NM_000399.5(EGR2):c.1086A>C (p.Arg362=) SNV Benign 256013 rs45602133 10:64573312-64573312 10:62813552-62813552 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.-2C>T SNV Benign 258555 rs4930624 11:68671419-68671419 11:68903951-68903951 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.57T>C (p.Leu19=) SNV Benign 258575 rs1249463 11:68671477-68671477 11:68904009-68904009 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.2095-6C>T SNV Benign 258536 rs2240401 7:30673345-30673345 7:30633729-30633729 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.186C>T (p.Pro62=) SNV Benign 240955 rs141998703 1:10318553-10318553 1:10258495-10258495 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.1830+6C>T SNV Benign 241837 rs75171318 9:130258380-130258380 9:127496101-127496101 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.2322C>T (p.Asp774=) SNV Benign 241503 rs17795193 5:148406973-148406973 5:149027410-149027410 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.387-4C>T SNV Benign 241387 rs12305439 12:110246277-110246277 12:109808472-109808472 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.81T>C (p.Gly27=) SNV Benign 241389 rs34599967 12:110252521-110252521 12:109814716-109814716 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.435C>G (p.Asp145Glu) SNV Benign 197374 rs904582 12:32735236-32735236 12:32582302-32582302 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=) SNV Benign 210863 rs17541519 14:102506064-102506064 14:102039727-102039727 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.970+19G>A SNV Benign 214633 rs75865135 1:12061630-12061630 1:12001573-12001573 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*1688G>C SNV Benign 215545 rs146789340 19:40902776-40902776 19:40396869-40396869 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PLD3 NM_181882.3(PRX):c.4059_4061GGA[6] (p.Glu1361del) short repeat Benign 215547 rs139624657 19:40900180-40900182 19:40394273-40394275 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.4059_4061GGA[6] (p.Glu1361del) short repeat Benign 215547 rs139624657 19:40900180-40900182 19:40394273-40394275 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.2205-13C>A SNV Benign 214638 rs76020240 1:12071540-12071540 1:12011483-12011483 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.1407G>A (p.Glu469=) SNV Benign 215429 rs543609297 8:24811072-24811072 8:24953558-24953558 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.95T>C (p.Leu32Pro) SNV Benign 217861 rs863223328 7:30634632-30634632 7:30595016-30595016 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.477T>A (p.Ser159=) SNV Benign 219800 rs77574155 5:148422309-148422309 5:149042746-149042746 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3472G>A (p.Val1158Ile) SNV Benign 221185 rs55853803 5:148388420-148388420 5:149008857-149008857 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.1173A>G (p.Ala391=) SNV Benign 220575 rs79470805 11:10014085-10014085 11:9992538-9992538 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.2433G>C (p.Ser811=) SNV Benign 219845 rs34071623 12:110222146-110222146 12:109784341-109784341 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.810G>A (p.Gly270=) SNV Benign 220190 rs147558344 12:110238466-110238466 12:109800661-109800661 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LITAF NM_001136473.1(LITAF):c.234G>A (p.Thr78=) SNV Benign 220753 rs9282774 16:11647532-11647532 16:11553676-11553676 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LITAF NM_001136473.1(LITAF):c.333C>T (p.Ala111=) SNV Benign 221057 rs34448402 16:11647433-11647433 16:11553577-11553577 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.1483-7C>T SNV Benign 221177 rs2017698 19:50338236-50338236 19:49834979-49834979 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*1256C>T SNV Benign 220690 rs73933276 19:40903208-40903208 19:40397301-40397301 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.836+10G>T SNV Benign 224958 rs41276676 12:32754367-32754367 12:32601433-32601433 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.5(MTMR2):c.1233G>A (p.Thr411=) SNV Benign 138271 rs113897932 11:95578270-95578270 11:95845106-95845106 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_001243571.2(MTMR2):c.-404+13C>T SNV Benign 138272 rs139510268 11:95657026-95657026 11:95923862-95923862 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.3(NDRG1):c.755+10T>C SNV Benign 138433 rs2233336 8:134260948-134260948 8:133248705-133248705 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NDRG1 NM_006096.3(NDRG1):c.756-5C>T SNV Benign 138434 rs2227262 8:134260174-134260174 8:133247931-133247931 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.744C>T (p.Leu248=) SNV Benign 138211 rs61733205 1:12059080-12059080 1:11999023-11999023 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.957C>T (p.Gly319=) SNV Benign 138212 rs41278632 1:12061598-12061598 1:12001541-12001541 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1039-19G>A SNV Benign 138213 rs74052923 1:12062020-12062020 1:12001963-12001963 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.1569C>T (p.Ser523=) SNV Benign 138215 rs1042837 1:12065841-12065841 1:12005784-12005784 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.1674+19C>T SNV Benign 138199 rs752522 19:50338453-50338453 19:49835196-49835196 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.2031G>A (p.Ala677=) SNV Benign 138200 rs57854058 19:50339548-50339548 19:49836291-49836291 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.-12A>G SNV Benign 138201 rs114843375 19:50321587-50321587 19:49818330-49818330 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.789T>C (p.Asp263=) SNV Benign 137722 rs3742034 12:110238487-110238487 12:109800682-109800682 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.795C>T (p.His265=) SNV Benign 137723 rs1344554 12:110238481-110238481 12:109800676-109800676 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.1153-10C>T SNV Benign 137724 rs149541389 12:110234519-110234519 12:109796714-109796714 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.2034C>T (p.Ile678=) SNV Benign 137725 rs3742037 12:110226379-110226379 12:109788574-109788574 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.1961T>C (p.Val654Ala) SNV Benign 137377 rs9885672 6:110107517-110107517 6:109786314-109786314 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.222+5C>T SNV Benign 137439 rs2072236 7:30634764-30634764 7:30595148-30595148 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1062T>C (p.Phe354=) SNV Benign 137440 rs11553502 7:30655542-30655542 7:30615926-30615926 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1613+9T>C SNV Benign 137441 rs75855065 7:30662087-30662087 7:30622471-30622471 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.1833T>C (p.Val611=) SNV Benign 137442 rs14270 7:30671087-30671087 7:30631471-30631471 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.2145A>G (p.Thr715=) SNV Benign 137443 rs4593 7:30673401-30673401 7:30633785-30633785 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GARS1 NM_002047.4(GARS1):c.93G>C (p.Leu31=) SNV Benign 137444 rs2529438 7:30634630-30634630 7:30595014-30595014 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AIFM1 NM_004208.4(AIFM1):c.1416T>C (p.Ala472=) SNV Benign 136324 rs141324245 X:129267320-129267320 X:130133345-130133345 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AIFM1 NM_004208.4(AIFM1):c.1833T>C (p.His611=) SNV Benign 136325 rs73556209 X:129263541-129263541 X:130129566-130129566 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNAJB2 NM_006736.6(DNAJB2):c.66-14C>T SNV Benign 137118 rs2276638 2:220145286-220145286 2:219280564-219280564 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNAJB2 NM_006736.6(DNAJB2):c.230-10G>A SNV Benign 137119 rs3731897 2:220146651-220146651 2:219281929-219281929 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.3015+18C>T SNV Benign 137182 rs2749894 14:102458028-102458028 14:101991691-101991691 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.1305G>A (p.Arg435=) SNV Benign 137368 rs10844253 12:32764184-32764184 12:32611250-32611250 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FGD4 NM_139241.3(FGD4):c.1518G>A (p.Ala506=) SNV Benign 137369 rs11052110 12:32777362-32777362 12:32624428-32624428 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.5(FIG4):c.67-7T>C SNV Benign 137374 rs56378532 6:110036274-110036274 6:109715071-109715071 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.3646C>G (p.Gln1216Glu) SNV Benign 138965 rs12574508 11:9853777-9853777 11:9832230-9832230 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.4933-15T>C SNV Benign 138966 rs75447733 11:9809300-9809300 11:9787753-9787753 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1350G>A (p.Pro450=) SNV Benign 139101 rs17722227 5:148407945-148407945 5:149028382-149028382 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3594A>G (p.Pro1198=) SNV Benign 139102 rs6871030 5:148386525-148386525 5:149006962-149006962 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SPTLC1 NM_006415.4(SPTLC1):c.560+16G>C SNV Benign 139321 rs73512337 9:94830232-94830232 9:92067950-92067950 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy RAB7A NM_004637.5(RAB7A):c.219C>T (p.Leu73=) SNV Benign 138863 rs4548 3:128525253-128525253 3:128806410-128806410 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.909C>T (p.Pro303=) SNV Benign 138963 rs16907355 11:10019879-10019879 11:9998332-9998332 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.2113G>A (p.Val705Ile) SNV Benign 138217 rs142271930 1:12069692-12069692 1:12009635-12009635 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MFN2 NM_014874.3(MFN2):c.2204+15T>C SNV Benign 138218 rs77262016 1:12069798-12069798 1:12009741-12009741 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy BICD2 NM_001003800.2(BICD2):c.1079C>T (p.Ala360Val) SNV Benign 155728 rs587777884 9:95481848-95481848 9:92719566-92719566 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy BICD2 NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu) SNV Benign 155729 rs587777885 9:95480934-95480934 9:92718652-92718652 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SETX NM_015046.7(SETX):c.59G>A (p.Arg20His) SNV Benign 242635 rs79740039 9:135224757-135224757 9:132349370-132349370 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.33G>T (p.Gly11=) SNV Benign 195368 rs56092423 12:110252569-110252569 12:109814764-109814764 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys) SNV Benign 194368 rs17612126 11:68705674-68705674 11:68938206-68938206 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.2439G>A (p.Ala813=) SNV Benign 194204 rs624147 11:68704387-68704387 11:68936919-68936919 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.2087A>G (p.His696Arg) SNV Benign 193931 rs17109261 5:148407208-148407208 5:149027645-149027645 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.1684G>A (p.Val562Ile) SNV Benign 193925 rs56177950 12:110230597-110230597 12:109792792-109792792 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.1777+10C>T SNV Benign 177960 rs3753037 1:10355834-10355834 1:10295776-10295776 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.549G>C (p.Glu183Asp) SNV Benign 155753 rs141908793 12:110246111-110246111 12:109808306-109808306 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.810+13G>T SNV Benign 36480 rs11264444 1:156104779-156104779 1:156134988-156134988 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TTR NM_000371.3(TTR):c.337-18G>C SNV Benign 36892 rs36204272 18:29178513-29178513 18:31598550-31598550 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*2850T>C SNV Benign 130048 rs268671 19:40901614-40901614 19:40395707-40395707 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*2860T>C SNV Benign 130049 rs268672 19:40901604-40901604 19:40395697-40395697 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*2968A>G SNV Benign 130050 rs268673 19:40901496-40901496 19:40395589-40395589 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.306C>T (p.Thr102=) SNV Benign 130051 rs744389 19:40904602-40904602 19:40398695-40398695 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*3453C>G SNV Benign 130052 rs3745202 19:40901011-40901011 19:40395104-40395104 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*3599G>A SNV Benign 130053 rs268674 19:40900865-40900865 19:40394958-40394958 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1194T>C (p.Gly398=) SNV Benign 130296 rs1432793 5:148408101-148408101 5:149028538-149028538 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1402G>T (p.Ala468Ser) SNV Benign 130297 rs6875902 5:148407893-148407893 5:149028330-149028330 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1587T>G (p.Arg529=) SNV Benign 130298 rs1432794 5:148407708-148407708 5:149028145-149028145 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.3594A>C (p.Pro1198=) SNV Benign 130299 rs6871030 5:148386525-148386525 5:149006962-149006962 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.512G>A (p.Gly171Glu) SNV Benign 130300 rs17722293 5:148422274-148422274 5:149042711-149042711 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=) SNV Benign 129401 rs11121552 1:10435324-10435324 1:10375266-10375266 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AIFM1 NM_004208.4(AIFM1):c.918C>T (p.Ile306=) SNV Benign 136320 rs12014115 X:129272617-129272617 X:130138642-130138642 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy AIFM1 NM_004208.4(AIFM1):c.996A>G (p.Gln332=) SNV Benign 136322 rs12007545 X:129271132-129271132 X:130137157-130137157 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.285C>G (p.Ala95=) SNV Benign 129399 rs12402052 1:10318652-10318652 1:10258594-10258594 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1698C>T (p.His566=) SNV Benign 48048 rs4641 1:156107534-156107534 1:156137743-156137743 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TTR NM_000371.3(TTR):c.*3_*11del deletion Benign 43452 rs143948820 18:29178641-29178649 18:31598678-31598686 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TTR NM_000371.4(TTR):c.360C>T (p.Ser120=) SNV Benign 43453 rs150127220 18:29178554-29178554 18:31598591-31598591 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.1338T>C (p.Asp446=) SNV Benign 48037 rs505058 1:156106185-156106185 1:156136394-156136394 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LMNA NM_170707.4(LMNA):c.861T>C (p.Ala287=) SNV Benign 48088 rs538089 1:156105028-156105028 1:156135237-156135237 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.447-3dup duplication Benign 694980 6:110053824-110053825 6:109732621-109732622 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.3(MED25):c.1482+19G>A SNV Benign 811662 19:50335691-50335691 19:49832434-49832434 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.3794-20C>T SNV Benign 811653 11:9838591-9838591 11:9817044-9817044 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.1983T>A (p.Phe661Leu) SNV Benign 917102 1:10357076-10357076 1:10297018-10297018 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy NEFL NM_006158.5(NEFL):c.507G>A (p.Glu169=) SNV Benign 917396 8:24813523-24813523 8:24956009-24956009 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy HSPB1 NM_001540.5(HSPB1):c.235C>T (p.Arg79Trp) SNV Benign 917324 7:75932264-75932264 7:76302947-76302947 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.36G>T (p.Lys12Asn) SNV Benign 916742 11:68671456-68671456 11:68903988-68903988 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_181882.3(PRX):c.1836C>A (p.Ala612=) SNV Benign 917243 19:40902423-40902423 19:40396516-40396516 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.1222+16_1222+17del short repeat Benign 917112 1:10339210-10339211 1:10279152-10279153 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.1223-28C>T SNV Benign 917113 1:10342352-10342352 1:10282294-10282294 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.2043-9del deletion Benign 917114 1:10357207-10357207 1:10297149-10297149 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_001365951.3(KIF1B):c.4753-20C>A SNV Benign 917115 1:10428505-10428505 1:10368447-10368447 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.4(TRPV4):c.55C>T (p.Pro19Ser) SNV Benign 5003 rs3742030 12:110252547-110252547 12:109814742-109814742 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PDK3 NM_005391.5(PDK3):c.249-9del deletion Benign 917223 X:24516926-24516926 X:24498809-24498809 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TTR NM_000371.4(TTR):c.76G>A (p.Gly26Ser) SNV Benign 13452 rs1800458 18:29172865-29172865 18:31592902-31592902 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MED25 NM_030973.4(MED25):c.1101+24_1101+42dup duplication Benign 917143 19:50334159-50334160 19:49830902-49830903 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PMP22 NM_000304.4(PMP22):c.179-17G>A SNV Benign 916816 17:15142945-15142945 17:15239628-15239628 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.3960+16G>A SNV Benign 916862 14:102466497-102466497 14:102000160-102000160 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy TRPV4 NM_021625.5(TRPV4):c.1333-16A>C SNV Benign 916866 12:110232308-110232308 12:109794503-109794503 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.1235+511T>C SNV Benign 917020 11:68697336-68697336 11:68929868-68929868 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.1235+519C>T SNV Benign 917021 11:68697344-68697344 11:68929876-68929876 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MTMR2 NM_016156.6(MTMR2):c.186+19A>T SNV Benign 916896 11:95621301-95621301 11:95888137-95888137 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.579+417A>G SNV Benign 917091 8:75274630-75274630 8:74362395-74362395 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.1422+42_1422+43del short repeat Benign 916775 9:130251836-130251837 9:127489557-127489558 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.2377-19T>C SNV Benign 917081 6:110113766-110113766 6:109792563-109792563 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.151+15_151+16del deletion Benign 917222 5:148431689-148431690 5:149052126-149052127 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.446+32dup duplication Benign 917314 6:110048489-110048490 6:109727286-109727287 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.447-17dup duplication Benign 917083 6:110053820-110053821 6:109732617-109732618 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.447-4_447-3dup duplication Benign 917084 6:110053824-110053825 6:109732621-109732622 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy FIG4 NM_014845.6(FIG4):c.2377-20_2377-19insC insertion Benign 917082 6:110113765-110113766 6:109792562-109792563 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.12902+46G>A SNV Benign 674056 14:102510874-102510874 14:102044537-102044537 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.3333+23A>G SNV Benign 674075 14:102461209-102461209 14:101994872-101994872 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.4396-25A>G SNV Benign 674076 14:102467847-102467847 14:102001510-102001510 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy GDAP1 NM_018972.4(GDAP1):c.117+28G>A SNV Benign 670530 8:75262841-75262841 8:74350606-74350606 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.750+33G>A SNV Benign 670497 9:130236243-130236243 9:127473964-127473964 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy LRSAM1 NM_138361.5(LRSAM1):c.903+38T>C SNV Benign 670496 9:130241822-130241822 9:127479543-127479543 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.8344-30G>A SNV Benign 674077 14:102486200-102486200 14:102019863-102019863 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy ARHGEF10 NM_014629.4(ARHGEF10):c.1110G>C (p.Leu370Phe) SNV Benign 618536 rs9657362 8:1833801-1833801 8:1885635-1885635 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.477C>T (p.Pro159=) SNV Benign 475426 rs117101415 12:57883741-57883741 12:57489958-57489958 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MARS1 NM_004990.4(MARS1):c.1812G>A (p.Gly604=) SNV Benign 475416 rs117633211 12:57906592-57906592 12:57512809-57512809 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.962-15dup duplication Benign 516950 rs3830914 14:102449338-102449339 14:101983001-101983002 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy SBF2 NM_030962.3(SBF2):c.753-16T>A SNV Benign 518234 rs7128234 11:10022585-10022585 11:10001038-10001038 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DNAJB2 NM_006736.6(DNAJB2):c.446-8G>A SNV Benign 473303 rs3821039 2:220147847-220147847 2:219283125-219283125 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy KIF1B NM_015074.3(KIF1B):c.2832C>A (p.Ile944=) SNV Benign 476784 rs78611156 1:10394623-10394623 1:10334565-10334565 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.5433+17dup duplication Benign 420240 rs140185574 14:102471589-102471590 14:102005252-102005253 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy PRX NM_020956.2(PRX):c.*2674G>A SNV Benign 378435 rs61733450 19:40901790-40901790 19:40395883-40395883 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy MPZ NM_000530.8(MPZ):c.45T>G (p.Ala15=) SNV no interpretation for the single variant 637951 1:161279651-161279651 1:161309861-161309861 CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1813C>T (p.Arg605Ter) SNV Pathogenic 488694 rs991227431 11:68703761-68703761 11:68936293-68936293 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.1415A>G (p.His472Arg) SNV Pathogenic 410314 rs1060502838 7:30661064-30661064 7:30621448-30621448 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe) SNV Pathogenic 476747 rs1554338260 7:30651830-30651830 7:30612214-30612214 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1708C>T (p.Arg570Ter) SNV Pathogenic 561032 rs1000091588 11:68702842-68702842 11:68935374-68935374 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs) deletion Pathogenic 637908 11:68704302-68704302 11:68936834-68936834 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy SETX NM_015046.7(SETX):c.1166T>C (p.Leu389Ser) SNV Pathogenic 2289 rs29001584 9:135205819-135205819 9:132330432-132330432 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy TRPV4 NM_021625.4(TRPV4):c.805C>T (p.Arg269Cys) SNV Pathogenic 5002 rs267607146 12:110238471-110238471 12:109800666-109800666 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter) SNV Pathogenic 162194 rs372000714 11:68673588-68673588 11:68906120-68906120 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy MORC2 NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) SNV Pathogenic 218307 rs864309503 22:31337490-31337490 22:30941503-30941503 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1082T>C (p.Leu361Pro) SNV Pathogenic 245627 rs201060167 11:68696672-68696672 11:68929204-68929204 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter) SNV Pathogenic 228355 rs200089714 11:68673577-68673577 11:68906109-68906109 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.2909_2910AG[1] (p.Arg971fs) short repeat Pathogenic/Likely pathogenic 162195 rs724159994 11:68707126-68707127 11:68939658-68939659 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1156T>C (p.Trp386Arg) SNV Pathogenic/Likely pathogenic 573815 rs759641927 11:68696746-68696746 11:68929278-68929278 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1693G>A (p.Asp565Asn) SNV Pathogenic/Likely pathogenic 581680 rs770111639 11:68702827-68702827 11:68935359-68935359 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy SPG7 NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) deletion Pathogenic/Likely pathogenic 411680 rs768823392 16:89613065-89613073 16:89546657-89546665 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1336C>T (p.Gln446Ter) SNV Pathogenic/Likely pathogenic 620136 rs372181708 11:68700867-68700867 11:68933399-68933399 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy TDRKH NM_001083965.2(TDRKH):c.986G>A (p.Arg329His) SNV Likely pathogenic 518454 rs375454176 1:151748973-151748973 1:151776497-151776497 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.904C>T (p.Gln302Ter) SNV Likely pathogenic 522258 rs557416644 11:68682483-68682483 11:68915015-68915015 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy SH3TC2 NM_024577.4(SH3TC2):c.386-2A>C SNV Likely pathogenic 694977 5:148422402-148422402 5:149042839-149042839 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy DST NM_015548.5(DST):c.1450-2A>T SNV Likely pathogenic 664361 6:56500514-56500514 6:56635716-56635716 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy SETX NM_015046.7(SETX):c.8C>T (p.Thr3Ile) SNV Likely pathogenic 2290 rs28941475 9:135224808-135224808 9:132349421-132349421 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.2365C>A (p.Pro789Thr) SNV Likely pathogenic 827641 11:68704313-68704313 11:68936845-68936845 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.1694T>A (p.Leu565Gln) SNV Conflicting interpretations of pathogenicity 834709 7:30665930-30665930 7:30626314-30626314 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy SETX NM_015046.7(SETX):c.6407G>A (p.Arg2136His) SNV Conflicting interpretations of pathogenicity 2291 rs121434378 9:135158790-135158790 9:132283403-132283403 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.1253C>T (p.Thr418Met) SNV Conflicting interpretations of pathogenicity 908914 7:30656788-30656788 7:30617172-30617172 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg) SNV Conflicting interpretations of pathogenicity 9207 rs137852646 7:30668214-30668214 7:30628598-30628598 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.1716G>A (p.Pro572=) SNV Conflicting interpretations of pathogenicity 194367 rs370608239 7:30668192-30668192 7:30628576-30628576 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe) indel Conflicting interpretations of pathogenicity 216737 rs863224780 5:148407892-148407893 5:149028329-149028330 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.1852G>A (p.Val618Ile) SNV Conflicting interpretations of pathogenicity 216550 rs369894731 7:30671106-30671106 7:30631490-30631490 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1808G>A (p.Arg603His) SNV Conflicting interpretations of pathogenicity 235774 rs151079750 11:68703756-68703756 11:68936288-68936288 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.302G>A (p.Arg101His) SNV Conflicting interpretations of pathogenicity 245685 rs200887429 7:30638491-30638491 7:30598875-30598875 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy PLEKHG5 NM_020631.5(PLEKHG5):c.43+14_43+20del deletion Conflicting interpretations of pathogenicity 297976 rs527883968 1:6537569-6537575 1:6477509-6477515 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy PLEKHG5 NM_001265594.2(PLEKHG5):c.2737+22_2737+24del deletion Conflicting interpretations of pathogenicity 297934 rs536097668 1:6528135-6528137 1:6468075-6468077 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy PLEKHG5 NM_020631.5(PLEKHG5):c.2145_2147GGA[9] (p.Glu723dup) short repeat Conflicting interpretations of pathogenicity 297949 rs113541584 1:6529182-6529183 1:6469122-6469123 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy PLEKHG5 NM_020631.5(PLEKHG5):c.2145_2147GGA[10] (p.Glu722_Glu723dup) short repeat Conflicting interpretations of pathogenicity 297950 rs113541584 1:6529182-6529183 1:6469122-6469123 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.765G>A (p.Ala255=) SNV Conflicting interpretations of pathogenicity 360006 rs201447520 7:30649230-30649230 7:30609614-30609614 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser) SNV Conflicting interpretations of pathogenicity 360011 rs192443850 7:30655580-30655580 7:30615964-30615964 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.1809+14T>C SNV Conflicting interpretations of pathogenicity 360016 rs367739730 7:30668299-30668299 7:30628683-30628683 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.764C>T (p.Ala255Val) SNV Conflicting interpretations of pathogenicity 360005 rs765478968 7:30649229-30649229 7:30609613-30609613 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy VRK1 NM_003384.3(VRK1):c.761G>T (p.Trp254Leu) SNV Conflicting interpretations of pathogenicity 617789 14:97322518-97322518 14:96856181-96856181 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy VRK1 NM_003384.3(VRK1):c.656G>T (p.Arg219Ile) SNV Conflicting interpretations of pathogenicity 619020 14:97321640-97321640 14:96855303-96855303 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.253A>G (p.Lys85Glu) SNV Conflicting interpretations of pathogenicity 422016 rs200294578 7:30638442-30638442 7:30598826-30598826 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.562G>A (p.Val188Ile) SNV Conflicting interpretations of pathogenicity 431819 rs376772628 7:30640809-30640809 7:30601193-30601193 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.700G>A (p.Glu234Lys) SNV Conflicting interpretations of pathogenicity 476760 rs373326652 7:30643153-30643153 7:30603537-30603537 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.882-15T>G SNV Conflicting interpretations of pathogenicity 360008 rs199741850 7:30651697-30651697 7:30612081-30612081 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.1478A>G (p.Asn493Ser) SNV Conflicting interpretations of pathogenicity 360014 rs538571144 7:30661943-30661943 7:30622327-30622327 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.1059C>G (p.His353Gln) SNV Uncertain significance 360010 rs886062273 7:30655539-30655539 7:30615923-30615923 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.*50_*51del deletion Uncertain significance 360022 rs70983380 7:30673513-30673514 7:30633897-30633898 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.*51del deletion Uncertain significance 360021 rs70983380 7:30673513-30673513 7:30633897-30633897 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy TRPV4 NM_021625.4(TRPV4):c.184G>A (p.Asp62Asn) SNV Uncertain significance 575960 rs770149544 12:110252418-110252418 12:109814613-109814613 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.2578C>T (p.Leu860Phe) SNV Uncertain significance 476900 rs139958177 5:148406717-148406717 5:149027154-149027154 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy SH3TC2 NM_024577.3(SH3TC2):c.1654G>C (p.Glu552Gln) SNV Uncertain significance 543343 rs551953142 5:148407641-148407641 5:149028078-149028078 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.1916G>A (p.Arg639His) SNV Uncertain significance 539778 rs1244748017 14:102452478-102452478 14:101986141-101986141 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy PMP22 NM_000304.4(PMP22):c.255C>G (p.Cys85Trp) SNV Uncertain significance 531692 rs755701957 17:15142852-15142852 17:15239535-15239535 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy SLC5A7 NM_021815.5(SLC5A7):c.1549G>A (p.Val517Ile) SNV Uncertain significance 549706 rs773393717 2:108627123-108627123 2:108010667-108010667 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy ETFDH NM_004453.4(ETFDH):c.523_524insAGCA (p.Arg175fs) insertion Uncertain significance 549696 rs1554031715 4:159606288-159606289 4:158685136-158685137 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy FBXO38 NM_205836.3(FBXO38):c.1859G>A (p.Arg620Gln) SNV Uncertain significance 549698 rs766830490 5:147805205-147805205 5:148425642-148425642 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy SETX NM_015046.7(SETX):c.895C>T (p.Arg299Cys) SNV Uncertain significance 549705 rs777182592 9:135206779-135206779 9:132331392-132331392 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy MARS1 NM_004990.4(MARS1):c.746C>T (p.Pro249Leu) SNV Uncertain significance 549700 rs146146070 12:57884403-57884403 12:57490620-57490620 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy FUS NM_001170634.1(FUS):c.*2201dup duplication Uncertain significance 549702 rs1555510151 16:31204959-31204960 16:31193638-31193639 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.332C>T (p.Ala111Val) SNV Uncertain significance 637059 7:30639570-30639570 7:30599954-30599954 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.547C>T (p.Leu183Phe) SNV Uncertain significance 637893 7:30640794-30640794 7:30601178-30601178 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.50T>C (p.Leu17Pro) SNV Uncertain significance 637458 11:68671470-68671470 11:68904002-68904002 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.121del (p.Gln41fs) deletion Uncertain significance 637901 11:68673570-68673570 11:68906102-68906102 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.163C>T (p.Gln55Ter) SNV Uncertain significance 637906 11:68673613-68673613 11:68906145-68906145 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NC_000011.9:g.68673706_68696651del deletion Uncertain significance 637473 11:68673706-68696651 11:68906238-68929183 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.616C>T (p.Gln206Ter) SNV Uncertain significance 637460 11:68678976-68678976 11:68911508-68911508 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.647C>T (p.Pro216Leu) SNV Uncertain significance 637462 11:68679007-68679007 11:68911539-68911539 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.661del (p.Thr221fs) deletion Uncertain significance 637465 11:68679018-68679018 11:68911550-68911550 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.661A>G (p.Thr221Ala) SNV Uncertain significance 637464 11:68679021-68679021 11:68911553-68911553 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.721T>C (p.Cys241Arg) SNV Uncertain significance 637467 11:68682300-68682300 11:68914832-68914832 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.752T>C (p.Leu251Pro) SNV Uncertain significance 637468 11:68682331-68682331 11:68914863-68914863 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1144G>A (p.Glu382Lys) SNV Uncertain significance 637456 11:68696734-68696734 11:68929266-68929266 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1277T>C (p.Leu426Pro) SNV Uncertain significance 637459 11:68700808-68700808 11:68933340-68933340 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1334A>C (p.His445Pro) SNV Uncertain significance 637903 11:68700865-68700865 11:68933397-68933397 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1415T>C (p.Leu472Pro) SNV Uncertain significance 637466 11:68700946-68700946 11:68933478-68933478 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1648_1649insG (p.Gln550fs) insertion Uncertain significance 637904 11:68702782-68702783 11:68935314-68935315 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1969C>T (p.Gln657Ter) SNV Uncertain significance 637907 11:68703917-68703917 11:68936449-68936449 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1743A>C (p.Arg581Ser) SNV Uncertain significance 637457 11:68702877-68702877 11:68935409-68935409 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1748A>T (p.Asn583Ile) SNV Uncertain significance 637905 11:68702882-68702882 11:68935414-68935414 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1756G>T (p.Gly586Cys) SNV Uncertain significance 637909 11:68702890-68702890 11:68935422-68935422 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1807C>T (p.Arg603Cys) SNV Uncertain significance 637463 11:68703755-68703755 11:68936287-68936287 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.1877del (p.Leu626fs) deletion Uncertain significance 637461 11:68703825-68703825 11:68936357-68936357 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1909C>T (p.Arg637Cys) SNV Uncertain significance 637910 11:68703857-68703857 11:68936389-68936389 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.3(IGHMBP2):c.1325A>G (p.Tyr442Cys) SNV Uncertain significance 827640 11:68700856-68700856 11:68933388-68933388 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1060+1G>T SNV Uncertain significance 637899 11:68685352-68685352 11:68917884-68917884 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy IGHMBP2 NM_002180.2(IGHMBP2):c.1235+3A>G SNV Uncertain significance 637902 11:68696828-68696828 11:68929360-68929360 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.616G>A (p.Val206Ile) SNV Uncertain significance 649537 7:30642696-30642696 7:30603080-30603080 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NC_000007.14:g.30594727A>T SNV Uncertain significance 908681 7:30634343-30634343 7:30594727-30594727 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_001316772.1(GARS1):c.-342G>C SNV Uncertain significance 909538 7:30634358-30634358 7:30594742-30594742 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_001316772.1(GARS1):c.-328T>G SNV Uncertain significance 910465 7:30634372-30634372 7:30594756-30594756 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_001316772.1(GARS1):c.-247C>A SNV Uncertain significance 910466 7:30634453-30634453 7:30594837-30594837 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_001316772.1(GARS1):c.-231T>G SNV Uncertain significance 911698 7:30634469-30634469 7:30594853-30594853 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_001316772.1(GARS1):c.-226C>T SNV Uncertain significance 908741 7:30634474-30634474 7:30594858-30594858 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.1143G>C (p.Gln381His) SNV Uncertain significance 910635 7:30655623-30655623 7:30616007-30616007 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.1188T>C (p.Val396=) SNV Uncertain significance 911861 7:30655668-30655668 7:30616052-30616052 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.647A>G (p.His216Arg) SNV Uncertain significance 694991 7:30642727-30642727 7:30603111-30603111 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.1528A>C (p.Lys510Gln) SNV Uncertain significance 694993 7:30661993-30661993 7:30622377-30622377 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy NEFL NM_006158.5(NEFL):c.1414del (p.Ser472fs) deletion Uncertain significance 694998 8:24811064-24811064 8:24953551-24953551 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.149C>A (p.Ala50Asp) SNV Uncertain significance 694841 14:102431177-102431177 14:101964840-101964840 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.248C>T (p.Thr83Met) SNV Uncertain significance 694842 14:102431276-102431276 14:101964939-101964939 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.3574A>C (p.Asn1192His) SNV Uncertain significance 694843 14:102463381-102463381 14:101997044-101997044 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy LITAF NM_001136473.1(LITAF):c.*263G>C SNV Uncertain significance 694874 16:11643355-11643355 16:11549499-11549499 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy LITAF NM_001136473.1(LITAF):c.*241C>A SNV Uncertain significance 694875 16:11643377-11643377 16:11549521-11549521 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy LITAF NM_001136473.1(LITAF):c.331_332dup (p.Gly112fs) duplication Uncertain significance 694881 16:11647433-11647434 16:11553577-11553578 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy AARS1 NM_001605.3(AARS1):c.488A>G (p.Asp163Gly) SNV Uncertain significance 694888 16:70305867-70305867 16:70271964-70271964 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy PRX NM_181882.3(PRX):c.2612T>C (p.Val871Ala) SNV Uncertain significance 694916 19:40901647-40901647 19:40395740-40395740 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy PRX NM_181882.3(PRX):c.2603A>G (p.Gln868Arg) SNV Uncertain significance 694918 19:40901656-40901656 19:40395749-40395749 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy PRX NM_181882.3(PRX):c.2579A>C (p.Asp860Ala) SNV Uncertain significance 694919 19:40901680-40901680 19:40395773-40395773 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy PRX NM_181882.3(PRX):c.862G>C (p.Val288Leu) SNV Uncertain significance 694921 19:40903397-40903397 19:40397490-40397490 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.3(GARS):c.-237A>C SNV Uncertain significance 359991 rs540431164 7:30634301-30634301 7:30594685-30594685 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.882-4A>G SNV Uncertain significance 360009 rs778219649 7:30651708-30651708 7:30612092-30612092 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.2211C>T (p.Ile737=) SNV Uncertain significance 360018 rs886062274 7:30673467-30673467 7:30633851-30633851 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.3(GARS):c.-197G>C SNV Uncertain significance 359995 rs886062269 7:30634341-30634341 7:30594725-30594725 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_001316772.1(GARS1):c.-242C>T SNV Uncertain significance 359997 rs886062270 7:30634458-30634458 7:30594842-30594842 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy PLEKHG5 NM_020631.5(PLEKHG5):c.*765del deletion Uncertain significance 297922 rs372197062 1:6526858-6526858 1:6466798-6466798 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy PLEKHG5 NM_020631.5(PLEKHG5):c.*750del deletion Uncertain significance 297924 rs886046493 1:6526873-6526873 1:6466813-6466813 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy PLEKHG5 NM_020631.5(PLEKHG5):c.2249+4C>T SNV Uncertain significance 297947 rs751575330 1:6529098-6529098 1:6469038-6469038 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.-36C>T SNV Uncertain significance 360001 rs531483802 7:30634502-30634502 7:30594886-30594886 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.384G>A (p.Leu128=) SNV Uncertain significance 360003 rs886062272 7:30639622-30639622 7:30600006-30600006 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy PLEKHG5 NM_020631.5(PLEKHG5):c.*981dup duplication Uncertain significance 297917 rs553519753 1:6526641-6526642 1:6466581-6466582 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_001316772.1(GARS1):c.-221C>T SNV Uncertain significance 359999 rs886062271 7:30634479-30634479 7:30594863-30594863 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy TRPV4 NM_021625.4(TRPV4):c.37G>A (p.Gly13Arg) SNV Uncertain significance 246224 rs763302555 12:110252565-110252565 12:109814760-109814760 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) SNV Uncertain significance 9208 rs137852647 7:30665896-30665896 7:30626280-30626280 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.1770A>G (p.Glu590=) SNV Uncertain significance 910686 7:30668246-30668246 7:30628630-30628630 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.*145C>A SNV Uncertain significance 911971 7:30673621-30673621 7:30634005-30634005 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.1194+3A>C SNV Uncertain significance 911862 7:30655677-30655677 7:30616061-30616061 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.*145del deletion Likely benign 360025 rs529035174 7:30673621-30673621 7:30634005-30634005 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.7979T>G (p.Val2660Gly) SNV Likely benign 694849 14:102483555-102483555 14:102017218-102017218 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.*36del deletion Likely benign 360020 rs758974790 7:30673512-30673512 7:30633896-30633896 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.3(GARS):c.-205C>T SNV Benign/Likely benign 359994 rs17159262 7:30634333-30634333 7:30594717-30594717 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) SNV Benign/Likely benign 360012 rs17159287 7:30655643-30655643 7:30616027-30616027 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.2212G>A (p.Glu738Lys) SNV Benign/Likely benign 360019 rs181251337 7:30673468-30673468 7:30633852-30633852 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.-36C>A SNV Benign/Likely benign 360000 rs531483802 7:30634502-30634502 7:30594886-30594886 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.3(GARS):c.-225G>A SNV Benign/Likely benign 359992 rs148593022 7:30634313-30634313 7:30594697-30594697 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.270C>T (p.Asp90=) SNV Benign/Likely benign 360002 rs369898799 7:30638459-30638459 7:30598843-30598843 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.699C>T (p.Val233=) SNV Benign/Likely benign 360004 rs187937286 7:30643152-30643152 7:30603536-30603536 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.1420C>A (p.Arg474=) SNV Benign/Likely benign 360013 rs113958280 7:30661069-30661069 7:30621453-30621453 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.1923T>C (p.His641=) SNV Benign/Likely benign 360017 rs182542046 7:30671882-30671882 7:30632266-30632266 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.766G>C (p.Asp256His) SNV Benign/Likely benign 360007 rs201399681 7:30649231-30649231 7:30609615-30609615 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.1031+14T>G SNV Benign/Likely benign 258530 rs189589556 7:30651875-30651875 7:30612259-30612259 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) SNV Benign/Likely benign 220422 rs62636572 7:30634548-30634548 7:30594932-30594932 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.1962C>T (p.Ile654=) SNV Benign/Likely benign 219915 rs201927627 7:30671921-30671921 7:30632305-30632305 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy PLEKHG5 NM_020631.5(PLEKHG5):c.2145_2147GGA[7] (p.Glu723del) short repeat Benign/Likely benign 194979 rs113541584 1:6529183-6529185 1:6469123-6469125 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) SNV Benign/Likely benign 188100 rs2230310 7:30649268-30649268 7:30609652-30609652 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.2095-6C>T SNV Benign 258536 rs2240401 7:30673345-30673345 7:30633729-30633729 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) SNV Benign 258532 rs1049402 7:30634661-30634661 7:30595045-30595045 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.747T>C (p.Tyr249=) SNV Benign 258538 rs7808770 7:30649212-30649212 7:30609596-30609596 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NC_000007.14:g.30594642G>A SNV Benign 910408 7:30634258-30634258 7:30594642-30594642 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.222+5C>T SNV Benign 137439 rs2072236 7:30634764-30634764 7:30595148-30595148 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.1062T>C (p.Phe354=) SNV Benign 137440 rs11553502 7:30655542-30655542 7:30615926-30615926 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.1613+9T>C SNV Benign 137441 rs75855065 7:30662087-30662087 7:30622471-30622471 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.1833T>C (p.Val611=) SNV Benign 137442 rs14270 7:30671087-30671087 7:30631471-30631471 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.2145A>G (p.Thr715=) SNV Benign 137443 rs4593 7:30673401-30673401 7:30633785-30633785 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.93G>C (p.Leu31=) SNV Benign 137444 rs2529438 7:30634630-30634630 7:30595014-30595014 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_001316772.1(GARS1):c.-339T>C SNV Benign 359996 rs78980639 7:30634361-30634361 7:30594745-30594745 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.3(GARS):c.-317G>A SNV Benign 359990 rs116125961 7:30634221-30634221 7:30594605-30594605 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.*67C>G SNV Benign 360023 rs142498676 7:30673543-30673543 7:30633927-30633927 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_001316772.1(GARS1):c.-231T>A SNV Benign 359998 rs527307703 7:30634469-30634469 7:30594853-30594853 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.3(GARS):c.-217A>G SNV Benign 359993 rs2970504 7:30634321-30634321 7:30594705-30594705 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy PLEKHG5 NM_148965.1(TNFRSF25):c.-43_-36del deletion Benign 297905 rs45616733 1:6526203-6526210 1:6466143-6466150 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy PLEKHG5 NM_148965.1(TNFRSF25):c.-77_-74del deletion Benign 297906 rs45542640 1:6526241-6526244 1:6466181-6466184 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.1761G>A (p.Thr587=) SNV Benign 360015 rs3886641 7:30668237-30668237 7:30628621-30628621 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy GARS1 NM_002047.4(GARS1):c.*73A>G SNV Benign 360024 rs113598818 7:30673549-30673549 7:30633933-30633933 CHR453 Charcot-Marie-Tooth Hereditary Neuropathy CYBA NM_000101.4(CYBA):c.467C>A (p.Pro156Gln) SNV Pathogenic 2260 rs104894515 16:88709882-88709882 16:88643474-88643474 CHR012 Chronic Granulomatous Disease CYBB NM_000397.3(CYBB):c.692A>C (p.Gln231Pro) SNV Pathogenic 29969 rs151344498 X:37658225-37658225 X:37798972-37798972 CHR012 Chronic Granulomatous Disease CYBB NM_000397.3(CYBB):c.532A>C (p.Thr178Pro) SNV Pathogenic 29970 rs151344497 X:37655252-37655252 X:37795999-37795999 CHR012 Chronic Granulomatous Disease NCF4 NM_000631.5(NCF4):c.314G>A (p.Arg105Gln) SNV Pathogenic 30194 rs387906808 22:37263476-37263476 22:36867434-36867434 CHR012 Chronic Granulomatous Disease NCF4 NM_000631.5(NCF4):c.143_152dup (p.Lys52fs) duplication Pathogenic 222998 rs869025585 22:37260985-37260986 22:36864943-36864944 CHR012 Chronic Granulomatous Disease NCF4 NM_000631.5(NCF4):c.628-14C>A SNV Conflicting interpretations of pathogenicity 260305 rs56071149 22:37271681-37271681 22:36875639-36875639 CHR012 Chronic Granulomatous Disease NCF4 NM_000631.5(NCF4):c.240T>C (p.Ser80=) SNV Conflicting interpretations of pathogenicity 341550 rs35431748 22:37261083-37261083 22:36865041-36865041 CHR012 Chronic Granulomatous Disease NCF4 NM_000631.5(NCF4):c.33-6G>A SNV Conflicting interpretations of pathogenicity 341547 rs200865261 22:37260081-37260081 22:36864039-36864039 CHR012 Chronic Granulomatous Disease NCF4 NM_000631.5(NCF4):c.271+6C>T SNV Conflicting interpretations of pathogenicity 341552 rs200052796 22:37261120-37261120 22:36865078-36865078 CHR012 Chronic Granulomatous Disease NCF4 NM_000631.5(NCF4):c.478G>A (p.Val160Met) SNV Conflicting interpretations of pathogenicity 341554 rs150103256 22:37267701-37267701 22:36871659-36871659 CHR012 Chronic Granulomatous Disease NCF4 NM_000631.5(NCF4):c.647C>T (p.Thr216Met) SNV Uncertain significance 341555 rs146911421 22:37271714-37271714 22:36875672-36875672 CHR012 Chronic Granulomatous Disease NCF4 NM_000631.5(NCF4):c.733T>C (p.Tyr245His) SNV Uncertain significance 341557 rs886057488 22:37271800-37271800 22:36875758-36875758 CHR012 Chronic Granulomatous Disease NCF4 NM_000631.5(NCF4):c.923G>A (p.Arg308Gln) SNV Uncertain significance 341560 rs141160114 22:37273768-37273768 22:36877726-36877726 CHR012 Chronic Granulomatous Disease NCF4 NM_000631.5(NCF4):c.934G>T (p.Gly312Cys) SNV Uncertain significance 341561 rs199618052 22:37273779-37273779 22:36877737-36877737 CHR012 Chronic Granulomatous Disease NCF4 NM_000631.5(NCF4):c.*171A>T SNV Uncertain significance 341566 rs886057489 22:37274036-37274036 22:36877994-36877994 CHR012 Chronic Granulomatous Disease NCF4 NM_000631.5(NCF4):c.*172A>C SNV Uncertain significance 341567 rs529161346 22:37274037-37274037 22:36877995-36877995 CHR012 Chronic Granulomatous Disease NCF4 NM_000631.5(NCF4):c.28G>A (p.Glu10Lys) SNV Uncertain significance 341546 rs756372095 22:37257241-37257241 22:36861199-36861199 CHR012 Chronic Granulomatous Disease NCF4 NM_000631.5(NCF4):c.180C>T (p.Arg60=) SNV Uncertain significance 341549 rs762003847 22:37261023-37261023 22:36864981-36864981 CHR012 Chronic Granulomatous Disease NCF4 NM_000631.5(NCF4):c.825G>T (p.Arg275Ser) SNV Uncertain significance 341558 rs145005349 22:37273670-37273670 22:36877628-36877628 CHR012 Chronic Granulomatous Disease NCF4 NM_000631.5(NCF4):c.270A>T (p.Pro90=) SNV Uncertain significance 341551 rs370754874 22:37261113-37261113 22:36865071-36865071 CHR012 Chronic Granulomatous Disease NCF4 NM_000631.5(NCF4):c.655T>C (p.Phe219Leu) SNV Uncertain significance 341556 rs761212596 22:37271722-37271722 22:36875680-36875680 CHR012 Chronic Granulomatous Disease NCF4 NM_000631.5(NCF4):c.826C>T (p.Arg276Trp) SNV Uncertain significance 341559 rs200598824 22:37273671-37273671 22:36877629-36877629 CHR012 Chronic Granulomatous Disease NCF4 NM_000631.5(NCF4):c.940C>A (p.Pro314Thr) SNV Uncertain significance 341562 rs199686562 22:37273785-37273785 22:36877743-36877743 CHR012 Chronic Granulomatous Disease NCF4 NM_000631.5(NCF4):c.-114C>T SNV Uncertain significance 341543 rs886057487 22:37257100-37257100 22:36861058-36861058 CHR012 Chronic Granulomatous Disease NCF2 NM_000433.3(NCF2):c.*517dup duplication Uncertain significance 294062 rs573207861 1:183524735-183524736 1:183555600-183555601 CHR012 Chronic Granulomatous Disease NCF2 NM_000433.3(NCF2):c.*508_*512dup duplication Uncertain significance 294063 rs555649211 1:183524740-183524741 1:183555605-183555606 CHR012 Chronic Granulomatous Disease NCF2 NM_000433.3(NCF2):c.*510T>A SNV Uncertain significance 294064 rs886045646 1:183524743-183524743 1:183555608-183555608 CHR012 Chronic Granulomatous Disease NCF2 NM_001127651.3(NCF2):c.*539_*542GTTT[1] short repeat Uncertain significance 294061 rs376681445 1:183524707-183524710 1:183555572-183555575 CHR012 Chronic Granulomatous Disease NCF2 NM_000433.3(NCF2):c.*397_*398insTCA insertion Uncertain significance 294067 rs886045648 1:183524855-183524856 1:183555720-183555721 CHR012 Chronic Granulomatous Disease NCF2 NM_000433.3(NCF2):c.*393dup duplication Uncertain significance 294068 rs771465757 1:183524859-183524860 1:183555724-183555725 CHR012 Chronic Granulomatous Disease NCF2 NM_000433.3(NCF2):c.*445A>C SNV Uncertain significance 294065 rs886045647 1:183524808-183524808 1:183555673-183555673 CHR012 Chronic Granulomatous Disease NCF2 NM_000433.3(NCF2):c.*393del deletion Uncertain significance 294069 rs771465757 1:183524860-183524860 1:183555725-183555725 CHR012 Chronic Granulomatous Disease NCF2 NM_001127651.3(NCF2):c.*264_*265AG[2] short repeat Uncertain significance 294070 rs886045650 1:183524984-183524985 1:183555849-183555850 CHR012 Chronic Granulomatous Disease NCF4 NM_000631.5(NCF4):c.442C>T (p.Arg148Cys) SNV Uncertain significance 341553 rs770577417 22:37266556-37266556 22:36870514-36870514 CHR012 Chronic Granulomatous Disease NCF4 NM_000631.5(NCF4):c.*23T>C SNV Uncertain significance 341565 rs755408986 22:37273888-37273888 22:36877846-36877846 CHR012 Chronic Granulomatous Disease NCF4 NM_000631.5(NCF4):c.-95C>T SNV Likely benign 341544 rs148141762 22:37257119-37257119 22:36861077-36861077 CHR012 Chronic Granulomatous Disease NCF2 NM_000433.3(NCF2):c.-249_-248insA insertion Likely benign 294088 rs35066000 1:183559712-183559713 1:183590577-183590578 CHR012 Chronic Granulomatous Disease NCF4 NM_000631.5(NCF4):c.-37G>A SNV Likely benign 341545 rs34567417 22:37257177-37257177 22:36861135-36861135 CHR012 Chronic Granulomatous Disease NCF4 NM_000631.5(NCF4):c.960C>T (p.Phe320=) SNV Likely benign 341563 rs1858 22:37273805-37273805 22:36877763-36877763 CHR012 Chronic Granulomatous Disease NCF4 NM_000631.5(NCF4):c.1011G>A (p.Thr337=) SNV Likely benign 341564 rs28669668 22:37273856-37273856 22:36877814-36877814 CHR012 Chronic Granulomatous Disease NCF4 NM_000631.5(NCF4):c.63C>T (p.Ala21=) SNV Benign/Likely benign 341548 rs34373276 22:37260117-37260117 22:36864075-36864075 CHR012 Chronic Granulomatous Disease NCF4 NM_000631.5(NCF4):c.735C>T (p.Tyr245=) SNV Benign/Likely benign 260307 rs2072712 22:37271802-37271802 22:36875760-36875760 CHR012 Chronic Granulomatous Disease NCF4 NM_000631.5(NCF4):c.69G>A (p.Ser23=) SNV Benign/Likely benign 260306 rs10854695 22:37260123-37260123 22:36864081-36864081 CHR012 Chronic Granulomatous Disease NCF4 NM_000631.5(NCF4):c.758+57T>C SNV Benign 260308 rs2075939 22:37271882-37271882 22:36875840-36875840 CHR012 Chronic Granulomatous Disease NCF4 NM_000631.5(NCF4):c.897G>A (p.Ser299=) SNV Benign 260303 rs11552115 22:37273742-37273742 22:36877700-36877700 CHR012 Chronic Granulomatous Disease TWNK NM_021830.5(TWNK):c.1121G>A (p.Arg374Gln) SNV Pathogenic/Likely pathogenic 426106 rs1554887097 10:102749088-102749088 10:100989331-100989331 CHR095 Chronic Progressive External Ophthalmoplegia RRM2B NM_001172477.1(RRM2B):c.822T>A (p.Phe274Leu) SNV Conflicting interpretations of pathogenicity 30434 rs515726194 8:103231120-103231120 8:102218892-102218892 CHR095 Chronic Progressive External Ophthalmoplegia RRM2B NM_001172477.1(RRM2B):c.1033G>A (p.Gly345Ser) SNV Conflicting interpretations of pathogenicity 30435 rs387906891 8:103225090-103225090 8:102212862-102212862 CHR095 Chronic Progressive External Ophthalmoplegia RRM2B NM_001172477.1(RRM2B):c.313C>T (p.Pro105Ser) SNV Conflicting interpretations of pathogenicity 30436 rs387906892 8:103244484-103244484 8:102232256-102232256 CHR095 Chronic Progressive External Ophthalmoplegia TRNS1 NC_012920.1:m.7486G>A SNV Uncertain significance 374215 rs1556423295 MT:7486-7486 MT:7486-7486 CHR095 Chronic Progressive External Ophthalmoplegia ARID1B NM_020732.3(ARID1B):c.5830C>T (p.Arg1944Ter) SNV Pathogenic 431136 rs1028186690 6:157528105-157528105 6:157206971-157206971 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.1483C>T (p.Gln495Ter) SNV Pathogenic 434378 rs1554248236 6:157100546-157100546 6:156779412-156779412 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.1899dup (p.Ser634fs) duplication Pathogenic 434379 rs1554265319 6:157222631-157222632 6:156901497-156901498 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.2465dup (p.Gln823fs) duplication Pathogenic 434380 rs1554301230 6:157454250-157454251 6:157133116-157133117 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.3430C>T (p.Gln1144Ter) SNV Pathogenic 434384 rs1554231836 6:157505449-157505449 6:157184315-157184315 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.3450del (p.Phe1150fs) deletion Pathogenic 434385 rs1554231845 6:157505467-157505467 6:157184333-157184333 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.3898C>T (p.Gln1300Ter) SNV Pathogenic 434386 rs1554234341 6:157517334-157517334 6:157196200-157196200 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_017519.2(ARID1B):c.1802dup (p.Tyr601Ter) duplication Pathogenic 438280 rs1554265275 6:157222573-157222574 6:156901439-156901440 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_001363725.2(ARID1B):c.-32dup duplication Pathogenic 438279 rs1554294698 6:157406013-157406014 6:157084879-157084880 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.3345+2T>G SNV Pathogenic 438281 rs1404726383 6:157502314-157502314 6:157181180-157181180 CFF008 Coffin-Siris Syndrome 1 DPF2 NM_006268.5(DPF2):c.827G>T (p.Cys276Phe) SNV Pathogenic 438643 rs1555031372 11:65113452-65113452 11:65345981-65345981 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.6382C>T (p.Arg2128Ter) SNV Pathogenic 448984 rs1554238072 6:157528657-157528657 6:157207523-157207523 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_017519.2(ARID1B):c.3593dup (p.Pro1199fs) duplication Pathogenic 524204 rs1554232959 6:157510855-157510856 6:157189721-157189722 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.1828C>T (p.Gln610Ter) SNV Pathogenic 560948 rs1554265271 6:157222561-157222561 6:156901427-156901427 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.3228C>G (p.Tyr1076Ter) SNV Pathogenic 560949 rs1562328526 6:157502195-157502195 6:157181061-157181061 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_017519.2(ARID1B):c.3509del (p.Pro1170fs) deletion Pathogenic 560950 rs1562331655 6:157505566-157505566 6:157184432-157184432 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.3737C>A (p.Ser1246Ter) SNV Pathogenic 560951 rs772973856 6:157511219-157511219 6:157190085-157190085 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.4536G>A (p.Trp1512Ter) SNV Pathogenic 560952 rs1554235834 6:157522264-157522264 6:157201130-157201130 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_017519.2(ARID1B):c.4850del (p.Asp1617fs) deletion Pathogenic 560953 rs1562347066 6:157522617-157522617 6:157201483-157201483 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_017519.2(ARID1B):c.6661del (p.Leu2221fs) deletion Pathogenic 560954 rs1562355401 6:157528975-157528975 6:157207841-157207841 CFF008 Coffin-Siris Syndrome 1 ERMARD 46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn complex Pathogenic 561258 6:151443333-171115067 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.4009C>T (p.Arg1337Ter) SNV Pathogenic 488469 rs773740590 6:157517445-157517445 6:157196311-157196311 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_017519.2(ARID1B):c.6215_6242dup (p.Asn2082_Val2083insProLeuTer) duplication Pathogenic 488470 rs1554237992 6:157528527-157528528 6:157207393-157207394 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.5776C>T (p.Arg1926Ter) SNV Pathogenic 488678 rs1554237658 6:157528051-157528051 6:157206917-157206917 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.4870C>T (p.Arg1624Ter) SNV Pathogenic 503753 rs1554236040 6:157522598-157522598 6:157201464-157201464 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.1618C>T (p.Gln540Ter) SNV Pathogenic 520639 rs1554256703 6:157150436-157150436 6:156829302-156829302 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.4140C>G (p.Tyr1380Ter) SNV Pathogenic 585304 rs377021700 6:157521868-157521868 6:157200734-157200734 CFF008 Coffin-Siris Syndrome 1 ARID1B GRCh37/hg19 6q25.3(chr6:156858484-157854806) copy number loss Pathogenic 625549 6:156858484-157854806 CFF008 Coffin-Siris Syndrome 1 TMEM242 GRCh37/hg19 6q25.3(chr6:156858484-157854806) copy number loss Pathogenic 625549 6:156858484-157854806 CFF008 Coffin-Siris Syndrome 1 ZDHHC14 GRCh37/hg19 6q25.3(chr6:156858484-157854806) copy number loss Pathogenic 625549 6:156858484-157854806 CFF008 Coffin-Siris Syndrome 1 ARID1B GRCh37/hg19 6q25.3(chr6:157133792-157495187) copy number gain Pathogenic 625786 6:157133792-157495187 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.850C>T (p.Gln284Ter) SNV Pathogenic 635838 6:157099913-157099913 6:156778779-156778779 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_001374828.1(ARID1B):c.1508del (p.Asn503fs) deletion Pathogenic 635839 6:157100321-157100321 6:156779187-156779187 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_001374828.1(ARID1B):c.2677dup (p.Gln893fs) duplication Pathogenic 666554 6:157454255-157454256 6:157133121-157133122 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_017519.2(ARID1B):c.2981_2986+7del deletion Pathogenic 689742 6:157488312-157488324 6:157167178-157167190 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_017519.2(ARID1B):c.3529C>T (p.Gln1177Ter) SNV Pathogenic 689741 6:157510793-157510793 6:157189659-157189659 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.2190del (p.Ser730fs) deletion Pathogenic 691270 6:157405948-157405948 6:157084814-157084814 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_001374828.1(ARID1B):c.3345G>A (p.Lys1115=) SNV Pathogenic 694701 6:157495251-157495251 6:157174117-157174117 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs) duplication Pathogenic 694703 6:157510805-157510806 6:157189671-157189672 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_001374828.1(ARID1B):c.6106C>T (p.His2036Tyr) SNV Pathogenic 694713 6:157528012-157528012 6:157206878-157206878 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_017519.2(ARID1B):c.3999T>A (p.Tyr1333Ter) SNV Pathogenic 31212 rs748363079 6:157519969-157519969 6:157198835-157198835 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_017519.2(ARID1B):c.5290A>T (p.Lys1764Ter) SNV Pathogenic 31215 rs387907143 6:157527604-157527604 6:157206470-157206470 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_017519.2(ARID1B):c.1864C>T (p.Gln622Ter) SNV Pathogenic 31213 rs387907142 6:157222636-157222636 6:156901502-156901502 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_017519.2(ARID1B):c.5593del (p.Asp1865fs) deletion Pathogenic 31214 rs876657381 6:157527907-157527907 6:157206773-157206773 CFF008 Coffin-Siris Syndrome 1 ARID1A NM_006015.6(ARID1A):c.4003C>T (p.Arg1335Ter) SNV Pathogenic 30294 rs387906846 1:27100207-27100207 1:26773716-26773716 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_017519.2(ARID1B):c.3880C>T (p.Gln1294Ter) SNV Pathogenic 31208 rs387907140 6:157517355-157517355 6:157196221-157196221 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_017519.2(ARID1B):c.6424_6434del (p.Ser2142fs) deletion Pathogenic 31209 rs876657379 6:157528737-157528747 6:157207603-157207613 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.3304C>T (p.Arg1102Ter) SNV Pathogenic 31210 rs387907141 6:157502271-157502271 6:157181137-157181137 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_017519.2(ARID1B):c.3284_3285del (p.Lys1095fs) deletion Pathogenic 31211 rs876657380 6:157502289-157502290 6:157181155-157181156 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.3223C>T (p.Arg1075Ter) SNV Pathogenic 31216 rs387907144 6:157502190-157502190 6:157181056-157181056 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_017519.2(ARID1B):c.4583_4592del (p.Gln1528fs) deletion Pathogenic 31217 rs876657382 6:157522347-157522356 6:157201213-157201222 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_001374828.1(ARID1B):c.1451dup (p.Phe485fs) duplication Pathogenic 802284 6:157100259-157100260 6:156779125-156779126 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_001374828.1(ARID1B):c.4263del (p.Gly1422fs) deletion Pathogenic 802285 6:157517329-157517329 6:157196195-157196195 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_001374828.1(ARID1B):c.4299C>A (p.Tyr1433Ter) SNV Pathogenic 802286 6:157517366-157517366 6:157196232-157196232 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_001374828.1(ARID1B):c.6896del (p.Gln2299fs) deletion Pathogenic 802287 6:157528802-157528802 6:157207668-157207668 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_001374828.1(ARID1B):c.1870C>T (p.Gln624Ter) SNV Pathogenic 807540 6:157150439-157150439 6:156829305-156829305 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_175863.2:c.4699dup duplication Pathogenic 827811 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_001374828.1(ARID1B):c.2107C>T (p.Gln703Ter) SNV Pathogenic 828172 6:157222630-157222630 6:156901496-156901496 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.2077G>T (p.Glu693Ter) SNV Pathogenic 620011 rs1554294593 6:157405835-157405835 6:157084701-157084701 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.2149C>T (p.Gln717Ter) SNV Pathogenic 210275 rs753933273 6:157405907-157405907 6:157084773-157084773 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.2248C>T (p.Arg750Ter) SNV Pathogenic 210277 rs797045272 6:157406006-157406006 6:157084872-157084872 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.5056dup (p.Tyr1686fs) duplication Pathogenic 210298 rs797045279 6:157527330-157527331 6:157206196-157206197 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.5151del (p.Lys1718fs) deletion Pathogenic 210299 rs797045280 6:157527425-157527425 6:157206291-157206291 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.5153del (p.Lys1718fs) deletion Pathogenic 210300 rs797045281 6:157527427-157527427 6:157206293-157206293 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.5404C>T (p.Arg1802Ter) SNV Pathogenic 210302 rs797045282 6:157527679-157527679 6:157206545-157206545 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.5968C>T (p.Arg1990Ter) SNV Pathogenic 210306 rs797045283 6:157528243-157528243 6:157207109-157207109 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_017519.2(ARID1B):c.6061C>T (p.Gln2021Ter) SNV Pathogenic 224135 rs869312697 6:157528375-157528375 6:157207241-157207241 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_001363725.2(ARID1B):c.-48C>T SNV Pathogenic 224158 rs869312712 6:157406000-157406000 6:157084866-157084866 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_017519.2(ARID1B):c.6216_6217del (p.Leu2073_Cys2074insTer) deletion Pathogenic 267263 rs886040958 6:157528529-157528530 6:157207395-157207396 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_017519.2(ARID1B):c.5527_5530AAGA[1] (p.Lys1844fs) short repeat Pathogenic 280515 rs886041706 6:157527838-157527841 6:157206704-157206707 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_017519.2(ARID1B):c.3650+1G>C SNV Pathogenic 374317 rs1057518691 6:157510915-157510915 6:157189781-157189781 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.1762G>T (p.Glu588Ter) SNV Pathogenic/Likely pathogenic 520728 rs201653711 6:157192772-157192772 6:156871638-156871638 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_017519.2(ARID1B):c.5351_5354TGTT[1] (p.Phe1785fs) short repeat Pathogenic/Likely pathogenic 434390 rs1554237269 6:157527665-157527668 6:157206531-157206534 CFF008 Coffin-Siris Syndrome 1 ARID1A NM_006015.6(ARID1A):c.6410C>A (p.Ala2137Asp) SNV Likely pathogenic 432033 rs1553153771 1:27106799-27106799 1:26780308-26780308 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.6526C>T (p.Gln2176Ter) SNV Likely pathogenic 438283 rs758120346 6:157528801-157528801 6:157207667-157207667 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.1960C>T (p.Gln654Ter) SNV Likely pathogenic 438282 rs1554270809 6:157256633-157256633 6:156935499-156935499 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_017519.2(ARID1B):c.3057_3061del (p.Lys1020fs) deletion Likely pathogenic 430942 rs1131692263 6:157495211-157495215 6:157174077-157174081 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_001346813.1(ARID1B):c.5602G>T (p.Glu1868Ter) SNV Likely pathogenic 592129 rs1451259945 6:157527757-157527757 6:157206623-157206623 CFF008 Coffin-Siris Syndrome 1 ARID1B GRCh38/hg38 6q25.3(chr6:157179172-157184916)x1 copy number loss Likely pathogenic 584448 6:157500306-157506050 6:157179172-157184916 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_001374828.1(ARID1B):c.3287del (p.Leu1096fs) deletion Likely pathogenic 800904 6:157495193-157495193 6:157174059-157174059 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_001374828.1(ARID1B):c.5224del (p.Val1742fs) deletion Likely pathogenic 800905 6:157522583-157522583 6:157201449-157201449 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.3401C>G (p.Ser1134Ter) SNV Likely pathogenic 636329 6:157505420-157505420 6:157184286-157184286 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.5482G>A (p.Glu1828Lys) SNV Likely pathogenic 632549 rs1451259945 6:157527757-157527757 6:157206623-157206623 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_017519.2(ARID1B):c.6434del (p.Asn2145fs) deletion Likely pathogenic 635084 rs1562354784 6:157528746-157528746 6:157207612-157207612 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.4336C>T (p.Gln1446Ter) SNV Likely pathogenic 210293 rs797045278 6:157522064-157522064 6:157200930-157200930 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.5026-2A>C SNV Likely pathogenic 620062 rs1562350940 6:157527299-157527299 6:157206165-157206165 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_001374828.1(ARID1B):c.2046del (p.Tyr683fs) deletion Likely pathogenic 666285 6:157222569-157222569 6:156901435-156901435 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_001374828.1(ARID1B):c.2379_2398del (p.His793fs) deletion Likely pathogenic 666286 6:157405925-157405944 6:157084791-157084810 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.5025+1G>A SNV Likely pathogenic 374222 rs1057518984 6:157525131-157525131 6:157203997-157203997 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_001346813.1(ARID1B):c.3406_3407dup (p.Pro1137fs) duplication Likely pathogenic 374248 rs1057519009 6:157502252-157502253 6:157181118-157181119 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_017519.2(ARID1B):c.17G>A (p.Gly6Asp) SNV Likely pathogenic 374256 rs1057518648 6:157099080-157099080 6:156777946-156777946 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.4110C>T (p.Gly1370=) SNV Conflicting interpretations of pathogenicity 328036 rs780735376 19:11145748-11145748 19:11035072-11035072 CFF008 Coffin-Siris Syndrome 1 SMARCB1 NM_003073.5(SMARCB1):c.723C>T (p.Ile241=) SNV Conflicting interpretations of pathogenicity 340914 rs752910574 22:24159051-24159051 22:23816864-23816864 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.4256G>A (p.Arg1419His) SNV Conflicting interpretations of pathogenicity 328037 rs775807962 19:11150219-11150219 19:11039543-11039543 CFF008 Coffin-Siris Syndrome 1 SMARCB1 NM_003073.5(SMARCB1):c.-17C>T SNV Conflicting interpretations of pathogenicity 340911 rs372777519 22:24129340-24129340 22:23787153-23787153 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.2565C>T (p.Val855=) SNV Conflicting interpretations of pathogenicity 328030 rs775610559 19:11130326-11130326 19:11019650-11019650 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.4110G>A (p.Pro1370=) SNV Conflicting interpretations of pathogenicity 210291 rs797045277 6:157520041-157520041 6:157198907-157198907 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.223-5C>T SNV Conflicting interpretations of pathogenicity 212239 rs376775933 19:11095944-11095944 19:10985268-10985268 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128844.2(SMARCA4):c.2275-3C>A SNV Conflicting interpretations of pathogenicity 212240 rs117611401 19:11123622-11123622 19:11012946-11012946 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.2460C>T (p.Tyr820=) SNV Conflicting interpretations of pathogenicity 212242 rs372410282 19:11129654-11129654 19:11018978-11018978 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.1791T>G (p.Pro597=) SNV Conflicting interpretations of pathogenicity 212237 rs141806282 19:11107199-11107199 19:10996523-10996523 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.3975C>T (p.Arg1325=) SNV Conflicting interpretations of pathogenicity 212254 rs144803359 19:11145613-11145613 19:11034937-11034937 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.4152G>A (p.Thr1384=) SNV Conflicting interpretations of pathogenicity 212255 rs372620534 19:11145790-11145790 19:11035114-11035114 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.442G>A (p.Gly148Arg) SNV Conflicting interpretations of pathogenicity 220638 rs138689221 19:11096951-11096951 19:10986275-10986275 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.1076G>A (p.Arg359Gln) SNV Conflicting interpretations of pathogenicity 238359 rs148530368 19:11098558-11098558 19:10987882-10987882 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.665C>T (p.Pro222Leu) SNV Conflicting interpretations of pathogenicity 238508 rs533671711 19:11097174-11097174 19:10986498-10986498 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.2832C>T (p.Asn944=) SNV Conflicting interpretations of pathogenicity 238417 rs764939990 19:11132616-11132616 19:11021940-11021940 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.1050C>A (p.Ser350Arg) SNV Conflicting interpretations of pathogenicity 408678 rs777628688 19:11098532-11098532 19:10987856-10987856 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.4170+5A>G SNV Conflicting interpretations of pathogenicity 408608 rs749029481 19:11145813-11145813 19:11035137-11035137 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.2853G>T (p.Gly951=) SNV Conflicting interpretations of pathogenicity 408634 rs767915497 19:11132637-11132637 19:11021961-11021961 CFF008 Coffin-Siris Syndrome 1 SMARCA2 NM_003070.5(SMARCA2):c.1240G>A (p.Ala414Thr) SNV Uncertain significance 451242 rs1554618664 9:2056738-2056738 9:2056738-2056738 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.980G>C (p.Gly327Ala) SNV Uncertain significance 452366 rs1455234951 6:157100043-157100043 6:156778909-156778909 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.1349_1350insAAC (p.Ser451_Gln452insThr) insertion Uncertain significance 587414 rs1562378653 6:157100411-157100412 6:156779277-156779278 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.584C>A (p.Pro195His) SNV Uncertain significance 634568 rs1568422604 19:11097093-11097093 19:10986417-10986417 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.1308C>G (p.Ser436Arg) SNV Uncertain significance 638005 6:157100371-157100371 6:156779237-156779237 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_020732.3(ARID1B):c.5680C>T (p.Pro1894Ser) SNV Uncertain significance 210303 rs774509236 6:157527955-157527955 6:157206821-157206821 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.5000A>G (p.Gln1667Arg) SNV Uncertain significance 623481 rs1568566518 19:11170856-11170856 19:11060180-11060180 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.2616+14G>T SNV Uncertain significance 328031 rs886054154 19:11130391-11130391 19:11019715-11019715 CFF008 Coffin-Siris Syndrome 1 SMARCB1 NM_003073.5(SMARCB1):c.987-4G>C SNV Uncertain significance 340915 rs745773662 22:24175755-24175755 22:23833568-23833568 CFF008 Coffin-Siris Syndrome 1 SMARCB1 NM_003073.5(SMARCB1):c.*279G>A SNV Uncertain significance 340921 rs886057287 22:24176646-24176646 22:23834459-23834459 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.3775-12A>G SNV Uncertain significance 328035 rs770956288 19:11144431-11144431 19:11033755-11033755 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.1761+6C>T SNV Uncertain significance 328025 rs886054152 19:11107062-11107062 19:10996386-10996386 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.2232G>C (p.Lys744Asn) SNV Uncertain significance 328029 rs886054153 19:11121165-11121165 19:11010489-11010489 CFF008 Coffin-Siris Syndrome 1 SMARCB1 NM_003073.5(SMARCB1):c.*12_*14dup duplication Uncertain significance 340916 rs779825754 22:24176376-24176377 22:23834189-23834190 CFF008 Coffin-Siris Syndrome 1 SMARCB1 NM_003073.5(SMARCB1):c.*113C>T SNV Uncertain significance 340920 rs886057286 22:24176480-24176480 22:23834293-23834293 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.968C>T (p.Ser323Leu) SNV Uncertain significance 328022 rs886054151 19:11098450-11098450 19:10987774-10987774 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.4328G>A (p.Arg1443Gln) SNV Uncertain significance 328039 rs886054155 19:11152044-11152044 19:11041368-11041368 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.*299C>T SNV Uncertain significance 328044 rs772399601 19:11172791-11172791 19:11062115-11062115 CFF008 Coffin-Siris Syndrome 1 SMARCB1 NM_003073.5(SMARCB1):c.-157G>A SNV Uncertain significance 340905 rs886057281 22:24129200-24129200 22:23787013-23787013 CFF008 Coffin-Siris Syndrome 1 SMARCB1 NM_003073.5(SMARCB1):c.-148T>C SNV Uncertain significance 340907 rs886057283 22:24129209-24129209 22:23787022-23787022 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.*346G>A SNV Uncertain significance 328046 rs754087248 19:11172838-11172838 19:11062162-11062162 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.-32+11C>T SNV Uncertain significance 328017 rs886054150 19:11071861-11071861 19:10961185-10961185 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.*464G>T SNV Uncertain significance 328048 rs886054156 19:11172956-11172956 19:11062280-11062280 CFF008 Coffin-Siris Syndrome 1 SMARCB1 NM_003073.5(SMARCB1):c.-107A>G SNV Uncertain significance 340910 rs886057284 22:24129250-24129250 22:23787063-23787063 CFF008 Coffin-Siris Syndrome 1 SMARCB1 NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr) SNV Uncertain significance 340912 rs762962010 22:24145588-24145588 22:23803401-23803401 CFF008 Coffin-Siris Syndrome 1 SMARCB1 NM_003073.5(SMARCB1):c.-149C>T SNV Uncertain significance 340906 rs886057282 22:24129208-24129208 22:23787021-23787021 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.*25C>T SNV Likely benign 328043 rs189436737 19:11172517-11172517 19:11061841-11061841 CFF008 Coffin-Siris Syndrome 1 SMARCB1 NM_003073.5(SMARCB1):c.*17C>T SNV Likely benign 340918 rs372348692 22:24176384-24176384 22:23834197-23834197 CFF008 Coffin-Siris Syndrome 1 SMARCB1 NM_003073.5(SMARCB1):c.*15C>A SNV Likely benign 340917 rs369400289 22:24176382-24176382 22:23834195-23834195 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.-72C>T SNV Likely benign 328015 rs559144002 19:11071810-11071810 19:10961134-10961134 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.-43C>T SNV Likely benign 328016 rs574982898 19:11071839-11071839 19:10961163-10961163 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_003072.5(SMARCA4):c.*34C>G SNV Likely benign 892548 19:11172526-11172526 19:11061850-11061850 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.3435C>T (p.Pro1145=) SNV Likely benign 238427 rs138764713 19:11141458-11141458 19:11030782-11030782 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.3558G>A (p.Ala1186=) SNV Benign/Likely benign 238431 rs140322802 19:11143977-11143977 19:11033301-11033301 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.3738C>T (p.Phe1246=) SNV Benign/Likely benign 238434 rs139943231 19:11144157-11144157 19:11033481-11033481 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.3927C>T (p.His1309=) SNV Benign/Likely benign 238441 rs148495641 19:11144852-11144852 19:11034176-11034176 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.4275G>A (p.Glu1425=) SNV Benign/Likely benign 238460 rs201879930 19:11151991-11151991 19:11041315-11041315 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.4608C>T (p.Pro1536=) SNV Benign/Likely benign 238478 rs145435121 19:11169018-11169018 19:11058342-11058342 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.4788C>T (p.Ile1596=) SNV Benign/Likely benign 238484 rs746415437 19:11170485-11170485 19:11059809-11059809 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.4968G>A (p.Pro1656=) SNV Benign/Likely benign 238497 rs182644267 19:11170824-11170824 19:11060148-11060148 CFF008 Coffin-Siris Syndrome 1 SMARCB1 NM_003073.5(SMARCB1):c.362+7C>T SNV Benign/Likely benign 239483 rs34746244 22:24135882-24135882 22:23793695-23793695 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.3066C>T (p.Ser1022=) SNV Benign/Likely benign 238422 rs149111403 19:11135099-11135099 19:11024423-11024423 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.747C>T (p.Tyr249=) SNV Benign/Likely benign 238519 rs756224211 19:11097256-11097256 19:10986580-10986580 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.1074G>A (p.Pro358=) SNV Benign/Likely benign 238358 rs374167170 19:11098556-11098556 19:10987880-10987880 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.1099C>T (p.Leu367=) SNV Benign/Likely benign 238361 rs372379166 19:11098581-11098581 19:10987905-10987905 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.1419+9C>T SNV Benign/Likely benign 238375 rs374635008 19:11102008-11102008 19:10991332-10991332 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.1557C>T (p.Asn519=) SNV Benign/Likely benign 238379 rs2288845 19:11105641-11105641 19:10994965-10994965 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.1740A>G (p.Lys580=) SNV Benign/Likely benign 238382 rs114391904 19:11107035-11107035 19:10996359-10996359 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.2275-10G>A SNV Benign/Likely benign 238397 rs375787249 19:11123615-11123615 19:11012939-11012939 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.2409T>C (p.Asn803=) SNV Benign/Likely benign 238404 rs199634608 19:11123759-11123759 19:11013083-11013083 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.859+7T>A SNV Benign/Likely benign 221046 rs141461778 19:11097686-11097686 19:10987010-10987010 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.2022G>T (p.Pro674=) SNV Benign/Likely benign 220892 rs539865173 19:11118598-11118598 19:11007922-11007922 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.2001+8T>G SNV Benign/Likely benign 212238 rs112549813 19:11114081-11114081 19:11003405-11003405 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.120C>T (p.His40=) SNV Benign/Likely benign 212233 rs375884151 19:11094947-11094947 19:10984271-10984271 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.4011C>T (p.Leu1337=) SNV Benign/Likely benign 220922 rs377720149 19:11145649-11145649 19:11034973-11034973 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.4368G>A (p.Pro1456=) SNV Benign/Likely benign 221084 rs114882905 19:11152084-11152084 19:11041408-11041408 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.223-7C>G SNV Benign/Likely benign 238395 rs762146990 19:11095942-11095942 19:10985266-10985266 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.459G>A (p.Pro153=) SNV Benign/Likely benign 238476 rs372931195 19:11096968-11096968 19:10986292-10986292 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.4590C>T (p.Tyr1530=) SNV Benign/Likely benign 126363 rs139505007 19:11169000-11169000 19:11058324-11058324 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.708T>C (p.Pro236=) SNV Benign/Likely benign 212260 rs62639303 19:11097217-11097217 19:10986541-10986541 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.981A>C (p.Pro327=) SNV Benign/Likely benign 212262 rs547268941 19:11098463-11098463 19:10987787-10987787 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.1419+7T>C SNV Benign/Likely benign 212236 rs112977340 19:11102006-11102006 19:10991330-10991330 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.930C>A (p.Arg310=) SNV Benign/Likely benign 126367 rs146141457 19:11098412-11098412 19:10987736-10987736 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.589C>T (p.Pro197Ser) SNV Benign/Likely benign 135251 rs200664441 19:11097098-11097098 19:10986422-10986422 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.1944-12C>T SNV Benign/Likely benign 328026 rs149763341 19:11114004-11114004 19:11003328-11003328 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.4864+15G>C SNV Benign/Likely benign 328042 rs113131294 19:11170576-11170576 19:11059900-11059900 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.2973+14G>A SNV Benign/Likely benign 328032 rs372877301 19:11134321-11134321 19:11023645-11023645 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.3669C>T (p.Asn1223=) SNV Benign/Likely benign 328034 rs28997581 19:11144088-11144088 19:11033412-11033412 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.3045C>T (p.Gly1015=) SNV Benign/Likely benign 212248 rs56101423 19:11135078-11135078 19:11024402-11024402 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.4267-13A>G SNV Benign/Likely benign 328038 rs201298366 19:11151970-11151970 19:11041294-11041294 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.147G>A (p.Pro49=) SNV Benign/Likely benign 328018 rs758438795 19:11094974-11094974 19:10984298-10984298 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.222+14T>C SNV Benign/Likely benign 328019 rs112825147 19:11095063-11095063 19:10984387-10984387 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.1119-12C>T SNV Benign/Likely benign 328024 rs113870824 19:11099981-11099981 19:10989305-10989305 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.2085C>T (p.Ser695=) SNV Benign/Likely benign 328027 rs149342641 19:11118661-11118661 19:11007985-11007985 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.355+9C>T SNV Benign/Likely benign 328020 rs767575401 19:11096090-11096090 19:10985414-10985414 CFF008 Coffin-Siris Syndrome 1 SMARCB1 NM_003073.5(SMARCB1):c.-115C>T SNV Benign/Likely benign 340909 rs551328283 22:24129242-24129242 22:23787055-23787055 CFF008 Coffin-Siris Syndrome 1 SMARCB1 NM_003073.5(SMARCB1):c.*293C>T SNV Benign/Likely benign 340922 rs754865420 22:24176660-24176660 22:23834473-23834473 CFF008 Coffin-Siris Syndrome 1 SMARCB1 NM_003073.5(SMARCB1):c.628+13C>T SNV Benign/Likely benign 340913 rs184021903 22:24145622-24145622 22:23803435-23803435 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.1104G>A (p.Gln368=) SNV Benign/Likely benign 328023 rs751242644 19:11098586-11098586 19:10987910-10987910 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.4389C>T (p.Arg1463=) SNV Benign/Likely benign 328040 rs149670457 19:11152105-11152105 19:11041429-11041429 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.4731+12G>A SNV Benign/Likely benign 328041 rs34930626 19:11169577-11169577 19:11058901-11058901 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.2506-14T>C SNV Benign/Likely benign 391367 rs751003991 19:11130253-11130253 19:11019577-11019577 CFF008 Coffin-Siris Syndrome 1 SMARCB1 NM_003073.5(SMARCB1):c.-117C>T SNV Benign 340908 rs11090285 22:24129240-24129240 22:23787053-23787053 CFF008 Coffin-Siris Syndrome 1 SMARCB1 NM_003073.5(SMARCB1):c.*116dup duplication Benign 340919 rs397897183 22:24176480-24176481 22:23834293-23834294 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.356-14A>G SNV Benign 328021 rs111447132 19:11096851-11096851 19:10986175-10986175 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.2123+12C>T SNV Benign 328028 rs17001090 19:11118711-11118711 19:11008035-11008035 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.*327T>C SNV Benign 328045 rs146968124 19:11172819-11172819 19:11062143-11062143 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.3547-11T>C SNV Benign 328033 rs190104006 19:11143955-11143955 19:11033279-11033279 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.*401G>A SNV Benign 328047 rs559071626 19:11172893-11172893 19:11062217-11062217 CFF008 Coffin-Siris Syndrome 1 ARID1B NM_001374828.1(ARID1B):c.591_593GCA[9] (p.Gln213_Gln214dup) short repeat Benign 210284 rs587779743 6:157099420-157099425 6:156778268-156778269 CFF008 Coffin-Siris Syndrome 1 SMARCB1 NM_003073.5(SMARCB1):c.897G>A (p.Ser299=) SNV Benign 126368 rs2229354 22:24167513-24167513 22:23825326-23825326 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.4680C>T (p.Asp1560=) SNV Benign 126364 rs9105 19:11169514-11169514 19:11058838-11058838 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.4983T>C (p.Asp1661=) SNV Benign 126365 rs7275 19:11170839-11170839 19:11060163-11060163 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.915G>A (p.Pro305=) SNV Benign 126366 rs149573400 19:11098397-11098397 19:10987721-10987721 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.2757C>T (p.Pro919=) SNV Benign 212243 rs113955216 19:11132541-11132541 19:11021865-11021865 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.2388C>T (p.Leu796=) SNV Benign 220858 rs28997580 19:11123738-11123738 19:11013062-11013062 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.4171-9T>A SNV Benign 238452 rs201309716 19:11150125-11150125 19:11039449-11039449 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.1114T>C (p.Tyr372His) SNV Benign 126355 rs140192268 19:11098596-11098596 19:10987920-10987920 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.1413G>A (p.Lys471=) SNV Benign 126356 rs17001073 19:11101993-11101993 19:10991317-10991317 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.1419+8C>T SNV Benign 126357 rs115492175 19:11102007-11102007 19:10991331-10991331 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.1509A>G (p.Ala503=) SNV Benign 126358 rs17001075 19:11105593-11105593 19:10994917-10994917 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.1524T>C (p.His508=) SNV Benign 126359 rs7935 19:11105608-11105608 19:10994932-10994932 CFF008 Coffin-Siris Syndrome 1 SMARCA4 NM_001128849.2(SMARCA4):c.4053C>T (p.Asp1351=) SNV Benign 126362 rs28997582 19:11145691-11145691 19:11035015-11035015 CFF008 Coffin-Siris Syndrome 1 COL4A1 NM_001845.6(COL4A1):c.3104G>T (p.Gly1035Val) SNV Pathogenic 440782 rs1555302922 13:110827659-110827659 13:110175312-110175312 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.1353dup (p.Gly452fs) duplication Pathogenic 807559 13:110847397-110847398 13:110195050-110195051 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.3706G>A (p.Gly1236Arg) SNV Pathogenic 17412 rs113994112 13:110822930-110822930 13:110170583-110170583 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser) SNV Pathogenic 17413 rs113994109 13:110831717-110831717 13:110179370-110179370 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.1685G>A (p.Gly562Glu) SNV Pathogenic 17414 rs121912857 13:110839528-110839528 13:110187181-110187181 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.1A>T (p.Met1Leu) SNV Pathogenic 17415 rs113994103 13:110959374-110959374 13:110307027-110307027 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.3389G>A (p.Gly1130Asp) SNV Pathogenic 17416 rs113994111 13:110826810-110826810 13:110174463-110174463 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.4267G>C (p.Gly1423Arg) SNV Pathogenic 17417 rs113994113 13:110814772-110814772 13:110162425-110162425 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2159G>A (p.Gly720Asp) SNV Pathogenic 17421 rs113994108 13:110833673-110833673 13:110181326-110181326 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.4738G>C (p.Gly1580Arg) SNV Pathogenic 17422 rs113994114 13:110807647-110807647 13:110155300-110155300 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.3976G>A (p.Gly1326Arg) SNV Pathogenic 132791 rs587777379 13:110818624-110818624 13:110166277-110166277 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2085del (p.Gly696fs) deletion Pathogenic 161440 rs606231464 13:110835350-110835350 13:110183003-110183003 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2194-1G>A SNV Pathogenic 161441 rs606231465 13:110831769-110831769 13:110179422-110179422 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg) SNV Pathogenic 161974 rs672601346 13:110831699-110831699 13:110179352-110179352 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2317G>C (p.Gly773Arg) SNV Pathogenic 161975 rs672601347 13:110831645-110831645 13:110179298-110179298 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.4881C>G (p.Asn1627Lys) SNV Pathogenic 161976 rs672601348 13:110804728-110804728 13:110152381-110152381 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2122G>A (p.Gly708Arg) SNV Pathogenic 161977 rs672601349 13:110833710-110833710 13:110181363-110181363 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg) SNV Pathogenic/Likely pathogenic 209141 rs797045034 13:110830243-110830243 13:110177896-110177896 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2228G>T (p.Gly743Val) SNV Pathogenic/Likely pathogenic 389182 rs1057523354 13:110831734-110831734 13:110179387-110179387 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.1462del (p.Glu487_Ile488insTer) deletion Likely pathogenic 827790 13:110845180-110845180 13:110192833-110192833 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2842G>C (p.Gly948Arg) SNV Likely pathogenic 864857 13:110829259-110829259 13:110176912-110176912 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2078G>A (p.Gly693Glu) SNV Likely pathogenic 434810 rs1555303720 13:110835357-110835357 13:110183010-110183010 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.3946C>G (p.Gln1316Glu) SNV Conflicting interpretations of pathogenicity 418141 rs377122126 13:110819508-110819508 13:110167161-110167161 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.1838C>G (p.Pro613Arg) SNV Conflicting interpretations of pathogenicity 447159 rs146091004 13:110838791-110838791 13:110186444-110186444 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.1466-6C>T SNV Conflicting interpretations of pathogenicity 195811 rs183563055 13:110844637-110844637 13:110192290-110192290 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) SNV Conflicting interpretations of pathogenicity 195868 rs145172612 13:110839625-110839625 13:110187278-110187278 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) SNV Conflicting interpretations of pathogenicity 196327 rs34004222 13:110866346-110866346 13:110213999-110213999 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2968+12A>G SNV Conflicting interpretations of pathogenicity 311046 rs752476229 13:110828961-110828961 13:110176614-110176614 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2160C>T (p.Gly720=) SNV Conflicting interpretations of pathogenicity 311055 rs781133776 13:110833672-110833672 13:110181325-110181325 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.388-11T>C SNV Conflicting interpretations of pathogenicity 311079 rs201801894 13:110864280-110864280 13:110211933-110211933 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.4442G>A (p.Arg1481Gln) SNV Conflicting interpretations of pathogenicity 311022 rs376607450 13:110814597-110814597 13:110162250-110162250 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.4271C>T (p.Pro1424Leu) SNV Conflicting interpretations of pathogenicity 311024 rs760889798 13:110814768-110814768 13:110162421-110162421 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.4441C>T (p.Arg1481Trp) SNV Conflicting interpretations of pathogenicity 311023 rs199586038 13:110814598-110814598 13:110162251-110162251 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.3431C>G (p.Thr1144Arg) SNV Conflicting interpretations of pathogenicity 311039 rs769021800 13:110826321-110826321 13:110173974-110173974 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2007C>T (p.Pro669=) SNV Conflicting interpretations of pathogenicity 311060 rs145645897 13:110835428-110835428 13:110183081-110183081 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.1385A>G (p.Gln462Arg) SNV Conflicting interpretations of pathogenicity 311063 rs750386918 13:110845257-110845257 13:110192910-110192910 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.1000-5T>G SNV Conflicting interpretations of pathogenicity 311065 rs75711155 13:110853874-110853874 13:110201527-110201527 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.-103G>A SNV Conflicting interpretations of pathogenicity 311088 rs538721412 13:110959477-110959477 13:110307130-110307130 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.1858G>C (p.Ala620Pro) SNV Conflicting interpretations of pathogenicity 311061 rs372803920 13:110838771-110838771 13:110186424-110186424 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.3164C>T (p.Pro1055Leu) SNV Conflicting interpretations of pathogenicity 311044 rs375787099 13:110827599-110827599 13:110175252-110175252 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.553-8C>T SNV Conflicting interpretations of pathogenicity 311076 rs199534388 13:110862397-110862397 13:110210050-110210050 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.*1099G>A SNV Conflicting interpretations of pathogenicity 311003 rs193065628 13:110801611-110801611 13:110149264-110149264 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.280-12C>T SNV Conflicting interpretations of pathogenicity 311082 rs200121908 13:110864977-110864977 13:110212630-110212630 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.*265A>G SNV Conflicting interpretations of pathogenicity 311015 rs555157539 13:110802445-110802445 13:110150098-110150098 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.-20G>T SNV Uncertain significance 311085 rs886049965 13:110959394-110959394 13:110307047-110307047 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.*6C>G SNV Uncertain significance 311018 rs762512053 13:110802704-110802704 13:110150357-110150357 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.*1039A>G SNV Uncertain significance 311004 rs776016334 13:110801671-110801671 13:110149324-110149324 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2262C>T (p.Pro754=) SNV Uncertain significance 311054 rs750538499 13:110831700-110831700 13:110179353-110179353 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2344+11G>A SNV Uncertain significance 311053 rs886049960 13:110831607-110831607 13:110179260-110179260 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.4038T>C (p.Pro1346=) SNV Uncertain significance 311028 rs372556002 13:110817321-110817321 13:110164974-110164974 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.766A>G (p.Thr256Ala) SNV Uncertain significance 311072 rs886049962 13:110859764-110859764 13:110207417-110207417 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.380G>T (p.Gly127Val) SNV Uncertain significance 311080 rs886049963 13:110864771-110864771 13:110212424-110212424 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.82A>G (p.Lys28Glu) SNV Uncertain significance 311083 rs886049964 13:110959293-110959293 13:110306946-110306946 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.-71C>G SNV Uncertain significance 311086 rs867117624 13:110959445-110959445 13:110307098-110307098 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.*531T>A SNV Uncertain significance 311012 rs886049953 13:110802179-110802179 13:110149832-110149832 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.*510A>G SNV Uncertain significance 311013 rs886049954 13:110802200-110802200 13:110149853-110149853 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.*477G>T SNV Uncertain significance 311014 rs886049955 13:110802233-110802233 13:110149886-110149886 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.3557-14T>C SNV Uncertain significance 311037 rs886049957 13:110823093-110823093 13:110170746-110170746 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.3241A>G (p.Lys1081Glu) SNV Uncertain significance 311042 rs886049958 13:110827054-110827054 13:110174707-110174707 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2706G>A (p.Pro902=) SNV Uncertain significance 311050 rs754208625 13:110830199-110830199 13:110177852-110177852 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2095+7C>G SNV Uncertain significance 311059 rs886049961 13:110835333-110835333 13:110182986-110182986 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2732C>T (p.Pro911Leu) SNV Uncertain significance 311049 rs778143775 13:110829369-110829369 13:110177022-110177022 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln) SNV Uncertain significance 196947 rs146288748 13:110829038-110829038 13:110176691-110176691 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) SNV Uncertain significance 289628 rs751749989 13:110959368-110959368 13:110307021-110307021 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.*137G>A SNV Uncertain significance 311017 rs886049956 13:110802573-110802573 13:110150226-110150226 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.4021+14T>A SNV Uncertain significance 311029 rs755709828 13:110818565-110818565 13:110166218-110166218 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.3742+14G>A SNV Uncertain significance 311035 rs377503687 13:110822880-110822880 13:110170533-110170533 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.3018T>G (p.Leu1006=) SNV Uncertain significance 311045 rs886049959 13:110828811-110828811 13:110176464-110176464 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2492C>T (p.Pro831Leu) SNV Uncertain significance 880786 13:110830545-110830545 13:110178198-110178198 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2344+12C>A SNV Uncertain significance 882176 13:110831606-110831606 13:110179259-110179259 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.957+6C>T SNV Uncertain significance 882271 13:110857694-110857694 13:110205347-110205347 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.234+9G>A SNV Uncertain significance 882373 13:110866264-110866264 13:110213917-110213917 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2016A>G (p.Pro672=) SNV Uncertain significance 884135 13:110835419-110835419 13:110183072-110183072 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.1752G>A (p.Glu584=) SNV Uncertain significance 880844 13:110838877-110838877 13:110186530-110186530 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.1605C>T (p.Phe535=) SNV Uncertain significance 882232 13:110839608-110839608 13:110187261-110187261 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.1470C>T (p.Phe490=) SNV Uncertain significance 882475 13:110844627-110844627 13:110192280-110192280 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.409C>T (p.Pro137Ser) SNV Uncertain significance 883375 13:110864248-110864248 13:110211901-110211901 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.354C>T (p.Gly118=) SNV Uncertain significance 881017 13:110864797-110864797 13:110212450-110212450 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.-90G>A SNV Uncertain significance 881059 13:110959464-110959464 13:110307117-110307117 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.-101G>T SNV Uncertain significance 881060 13:110959475-110959475 13:110307128-110307128 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.3353G>A (p.Gly1118Asp) SNV Uncertain significance 560984 rs1566349690 13:110826846-110826846 13:110174499-110174499 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.1056G>A (p.Pro352=) SNV Uncertain significance 585510 rs531373470 13:110853813-110853813 13:110201466-110201466 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.495T>A (p.His165Gln) SNV Uncertain significance 596296 rs762125888 13:110862533-110862533 13:110210186-110210186 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2093A>G (p.Lys698Arg) SNV Uncertain significance 447160 rs375318302 13:110835342-110835342 13:110182995-110182995 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.*995C>T SNV Uncertain significance 881414 13:110801715-110801715 13:110149368-110149368 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.*952A>G SNV Uncertain significance 881849 13:110801758-110801758 13:110149411-110149411 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.4928A>G (p.Lys1643Arg) SNV Uncertain significance 881914 13:110804681-110804681 13:110152334-110152334 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.4591A>G (p.Met1531Val) SNV Uncertain significance 883090 13:110813588-110813588 13:110161241-110161241 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.4166T>C (p.Val1389Ala) SNV Uncertain significance 880572 13:110815893-110815893 13:110163546-110163546 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.3329G>T (p.Ser1110Ile) SNV Uncertain significance 883215 13:110826870-110826870 13:110174523-110174523 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.3238G>A (p.Glu1080Lys) SNV Uncertain significance 884005 13:110827057-110827057 13:110174710-110174710 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.*530A>G SNV Uncertain significance 883019 13:110802180-110802180 13:110149833-110149833 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.*433T>G SNV Uncertain significance 883801 13:110802277-110802277 13:110149930-110149930 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2774A>G (p.Asp925Gly) SNV Uncertain significance 883266 13:110829327-110829327 13:110176980-110176980 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2594A>G (p.Gln865Arg) SNV Uncertain significance 880784 13:110830443-110830443 13:110178096-110178096 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2571G>A (p.Ser857=) SNV Likely benign 880785 13:110830466-110830466 13:110178119-110178119 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.3054G>A (p.Leu1018=) SNV Likely benign 880719 13:110828775-110828775 13:110176428-110176428 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2985A>G (p.Pro995=) SNV Likely benign 882119 13:110828844-110828844 13:110176497-110176497 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.145-5T>C SNV Likely benign 743784 13:110866367-110866367 13:110214020-110214020 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.1110C>T (p.Pro370=) SNV Likely benign 760949 13:110853211-110853211 13:110200864-110200864 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.3743-15C>T SNV Likely benign 880648 13:110822124-110822124 13:110169777-110169777 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.-13C>G SNV Likely benign 311084 rs60069761 13:110959387-110959387 13:110307040-110307040 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A2 NM_001845.6(COL4A1):c.-13C>G SNV Likely benign 311084 rs60069761 13:110959387-110959387 13:110307040-110307040 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.994G>C (p.Gly332Arg) SNV Likely benign 311067 rs150182714 13:110855918-110855918 13:110203571-110203571 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2285T>C (p.Val762Ala) SNV Likely benign 882178 13:110831677-110831677 13:110179330-110179330 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr) SNV Likely benign 311081 rs138269346 13:110864822-110864822 13:110212475-110212475 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.*1014C>T SNV Benign/Likely benign 311005 rs139916479 13:110801696-110801696 13:110149349-110149349 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.4250-12C>T SNV Benign/Likely benign 311025 rs202055679 13:110814801-110814801 13:110162454-110162454 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.4229T>C (p.Met1410Thr) SNV Benign/Likely benign 311026 rs200734000 13:110815830-110815830 13:110163483-110163483 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.4010C>T (p.Pro1337Leu) SNV Benign/Likely benign 311030 rs189728415 13:110818590-110818590 13:110166243-110166243 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.3949+10C>T SNV Benign/Likely benign 311033 rs188122235 13:110819495-110819495 13:110167148-110167148 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.3506-7C>G SNV Benign/Likely benign 311038 rs377592935 13:110825124-110825124 13:110172777-110172777 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.3288A>G (p.Pro1096=) SNV Benign/Likely benign 311041 rs2305082 13:110827007-110827007 13:110174660-110174660 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.*176A>G SNV Benign/Likely benign 311016 rs11545877 13:110802534-110802534 13:110150187-110150187 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2647G>A (p.Val883Ile) SNV Benign/Likely benign 311051 rs41275090 13:110830258-110830258 13:110177911-110177911 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.1673C>T (p.Ala558Val) SNV Benign/Likely benign 311062 rs200252122 13:110839540-110839540 13:110187193-110187193 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.1000-13C>G SNV Benign/Likely benign 311066 rs115358624 13:110853882-110853882 13:110201535-110201535 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.904-9C>T SNV Benign/Likely benign 311069 rs201481886 13:110857762-110857762 13:110205415-110205415 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.781-12G>A SNV Benign/Likely benign 311071 rs202198648 13:110859250-110859250 13:110206903-110206903 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.708C>G (p.Val236=) SNV Benign/Likely benign 311073 rs139523466 13:110859822-110859822 13:110207475-110207475 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.405C>T (p.Leu135=) SNV Benign/Likely benign 311078 rs138888319 13:110864252-110864252 13:110211905-110211905 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.3198+10G>A SNV Benign/Likely benign 311043 rs202002553 13:110827555-110827555 13:110175208-110175208 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2955G>C (p.Gln985His) SNV Benign/Likely benign 311047 rs145018661 13:110828986-110828986 13:110176639-110176639 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2624C>G (p.Pro875Arg) SNV Benign/Likely benign 311052 rs201964644 13:110830413-110830413 13:110178066-110178066 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.*975A>C SNV Benign/Likely benign 311006 rs28362515 13:110801735-110801735 13:110149388-110149388 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.4941G>A (p.Pro1647=) SNV Benign/Likely benign 311019 rs115834242 13:110802779-110802779 13:110150432-110150432 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.4658C>T (p.Ala1553Val) SNV Benign/Likely benign 311020 rs201150281 13:110807727-110807727 13:110155380-110155380 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.4640+8G>A SNV Benign/Likely benign 311021 rs117566874 13:110813531-110813531 13:110161184-110161184 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.4005C>T (p.Gly1335=) SNV Benign/Likely benign 311031 rs140722653 13:110818595-110818595 13:110166248-110166248 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.3972C>T (p.Leu1324=) SNV Benign/Likely benign 311032 rs535848796 13:110818628-110818628 13:110166281-110166281 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2869+6T>C SNV Benign/Likely benign 311048 rs557198622 13:110829226-110829226 13:110176879-110176879 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.*766G>A SNV Benign/Likely benign 311008 rs371130027 13:110801944-110801944 13:110149597-110149597 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.*609T>C SNV Benign/Likely benign 311010 rs189966143 13:110802101-110802101 13:110149754-110149754 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.4150+3G>A SNV Benign/Likely benign 311027 rs545498227 13:110817206-110817206 13:110164859-110164859 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.3877-8G>A SNV Benign/Likely benign 311034 rs370539477 13:110819585-110819585 13:110167238-110167238 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu) SNV Benign/Likely benign 311036 rs199557190 13:110823002-110823002 13:110170655-110170655 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.4056C>T (p.Tyr1352=) SNV Benign/Likely benign 197543 rs140210015 13:110817303-110817303 13:110164956-110164956 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.393G>A (p.Glu131=) SNV Benign/Likely benign 198472 rs34458255 13:110864264-110864264 13:110211917-110211917 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2103C>T (p.Asp701=) SNV Benign/Likely benign 311058 rs561116319 13:110833729-110833729 13:110181382-110181382 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.690C>T (p.Asp230=) SNV Benign/Likely benign 311074 rs149688210 13:110861199-110861199 13:110208852-110208852 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.501C>T (p.Pro167=) SNV Benign/Likely benign 311077 rs16975612 13:110862527-110862527 13:110210180-110210180 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.4797G>A (p.Ala1599=) SNV Benign/Likely benign 258259 rs146638269 13:110804812-110804812 13:110152465-110152465 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2517G>A (p.Pro839=) SNV Benign/Likely benign 764314 13:110830520-110830520 13:110178173-110178173 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.3774T>C (p.Leu1258=) SNV Benign/Likely benign 715098 13:110822078-110822078 13:110169731-110169731 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.1426C>T (p.Arg476Trp) SNV Benign/Likely benign 720587 13:110845216-110845216 13:110192869-110192869 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.1360A>G (p.Ile454Val) SNV Benign/Likely benign 712713 13:110847391-110847391 13:110195044-110195044 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.831A>G (p.Lys277=) SNV Benign/Likely benign 730908 13:110859039-110859039 13:110206692-110206692 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg) SNV Benign 800231 13:110830200-110830200 13:110177853-110177853 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.633C>T (p.Pro211=) SNV Benign 707250 13:110861757-110861757 13:110209410-110209410 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.4971G>A (p.Thr1657=) SNV Benign 881471 13:110802749-110802749 13:110150402-110150402 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2641A>G (p.Met881Val) SNV Benign 884075 13:110830264-110830264 13:110177917-110177917 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.3082C>T (p.Pro1028Ser) SNV Benign 880718 13:110827681-110827681 13:110175334-110175334 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.*838T>C SNV Benign 881850 13:110801872-110801872 13:110149525-110149525 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.1437C>T (p.Pro479=) SNV Benign 882476 13:110845205-110845205 13:110192858-110192858 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.1419C>T (p.Asp473=) SNV Benign 884191 13:110845223-110845223 13:110192876-110192876 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.494A>G (p.His165Arg) SNV Benign 882588 13:110862534-110862534 13:110210187-110210187 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2333A>G (p.Gln778Arg) SNV Benign 882177 13:110831629-110831629 13:110179282-110179282 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.234+8C>T SNV Benign 196328 rs9521650 13:110866265-110866265 13:110213918-110213918 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.1815T>C (p.Pro605=) SNV Benign 195950 rs61749897 13:110838814-110838814 13:110186467-110186467 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.19G>C (p.Val7Leu) SNV Benign 193216 rs9515185 13:110959356-110959356 13:110307009-110307009 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A2 NM_001845.6(COL4A1):c.19G>C (p.Val7Leu) SNV Benign 193216 rs9515185 13:110959356-110959356 13:110307009-110307009 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.4640+7C>T SNV Benign 258257 rs2275843 13:110813532-110813532 13:110161185-110161185 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.4470C>T (p.Ala1490=) SNV Benign 258255 rs1133219 13:110813709-110813709 13:110161362-110161362 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.3877-9C>T SNV Benign 258253 rs589985 13:110819586-110819586 13:110167239-110167239 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.3693G>A (p.Thr1231=) SNV Benign 258252 rs117738194 13:110822943-110822943 13:110170596-110170596 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.3189A>T (p.Arg1063=) SNV Benign 258251 rs874203 13:110827574-110827574 13:110175227-110175227 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.3183G>A (p.Gly1061=) SNV Benign 258250 rs874204 13:110827580-110827580 13:110175233-110175233 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2130G>A (p.Pro710=) SNV Benign 258249 rs16975492 13:110833702-110833702 13:110181355-110181355 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.1663= (p.Pro555=) SNV Benign 258247 rs536174 13:110839550-110839550 13:110187203-110187203 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.1257T>C (p.Pro419=) SNV Benign 258246 rs995224 13:110850842-110850842 13:110198495-110198495 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.859-10T>C SNV Benign 258265 rs677877 13:110857895-110857895 13:110205548-110205548 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.808-7C>G SNV Benign 258263 rs9588116 13:110859069-110859069 13:110206722-110206722 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.780+7G>A SNV Benign 258262 rs598893 13:110859743-110859743 13:110207396-110207396 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.616-11G>C SNV Benign 258261 rs645114 13:110861785-110861785 13:110209438-110209438 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.432T>A (p.Ala144=) SNV Benign 258254 rs532625 13:110864225-110864225 13:110211878-110211878 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.85-11T>C SNV Benign 258264 rs41275104 13:110895092-110895092 13:110242745-110242745 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.4800C>T (p.Ser1600=) SNV Benign 258260 rs650724 13:110804809-110804809 13:110152462-110152462 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=) SNV Benign 197519 rs150857429 13:110818604-110818604 13:110166257-110166257 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His) SNV Benign 197520 rs3742207 13:110818598-110818598 13:110166251-110166251 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.1084+5C>G SNV Benign 311064 rs74508743 13:110853780-110853780 13:110201433-110201433 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.958-9C>T SNV Benign 311068 rs73611465 13:110855963-110855963 13:110203616-110203616 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.808-7C>A SNV Benign 311070 rs9588116 13:110859069-110859069 13:110206722-110206722 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.-90G>T SNV Benign 311087 rs113651836 13:110959464-110959464 13:110307117-110307117 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A2 NM_001845.6(COL4A1):c.-90G>T SNV Benign 311087 rs113651836 13:110959464-110959464 13:110307117-110307117 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.*587C>A SNV Benign 311011 rs13260 13:110802123-110802123 13:110149776-110149776 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2124G>A (p.Gly708=) SNV Benign 311057 rs78426988 13:110833708-110833708 13:110181361-110181361 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy COL4A1 NM_001845.6(COL4A1):c.2075C>G (p.Pro692Arg) SNV not provided 585088 rs1566356383 13:110835360-110835360 13:110183013-110183013 CL4009 Col4a1-Related Familial Vascular Leukoencephalopathy YAP1 NM_001130145.3(YAP1):c.1066G>T (p.Glu356Ter) SNV Pathogenic 120327 rs587777250 11:102094386-102094386 11:102223655-102223655 CLB021 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation YAP1 NM_001130145.3(YAP1):c.832C>T (p.Pro278Ser) SNV Likely benign 802714 11:102076653-102076653 11:102205922-102205922 CLB021 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation APC NM_001127511.3(APC):c.165+20015G>T SNV other 82288 rs79707630 5:112063594-112063594 5:112727897-112727897 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+20528G>C SNV other 82289 rs77407722 5:112064107-112064107 5:112728410-112728410 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+20534G>C SNV other 82290 rs79031980 5:112064113-112064113 5:112728416-112728416 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+20687A>G SNV other 82291 rs77637872 5:112064266-112064266 5:112728569-112728569 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+20758G>T SNV other 82292 rs78388443 5:112064337-112064337 5:112728640-112728640 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+20759T>G SNV other 82293 rs80102729 5:112064338-112064338 5:112728641-112728641 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+20760T>C SNV other 82294 rs74582704 5:112064339-112064339 5:112728642-112728642 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+20767T>G SNV other 82295 rs79153922 5:112064346-112064346 5:112728649-112728649 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+20821G>T SNV other 82296 rs78535580 5:112064400-112064400 5:112728703-112728703 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+21162T>C SNV other 82297 rs74841539 5:112064741-112064741 5:112729044-112729044 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+21163C>T SNV other 82298 rs75709300 5:112064742-112064742 5:112729045-112729045 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+21707A>G SNV other 82299 rs75455183 5:112065286-112065286 5:112729589-112729589 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+21708C>A SNV other 82300 rs79620105 5:112065287-112065287 5:112729590-112729590 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+21747G>T SNV other 82301 rs77237681 5:112065326-112065326 5:112729629-112729629 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+21803C>A SNV other 82302 rs77955030 5:112065382-112065382 5:112729685-112729685 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+21909G>A SNV other 82303 rs78854073 5:112065488-112065488 5:112729791-112729791 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+22188A>T SNV other 82304 rs77575331 5:112065767-112065767 5:112730070-112730070 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+22544A>G SNV other 82305 rs78175185 5:112066123-112066123 5:112730426-112730426 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+22819T>C SNV other 82306 rs76759055 5:112066398-112066398 5:112730701-112730701 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+23451A>G SNV other 82307 rs76039388 5:112067030-112067030 5:112731333-112731333 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+23937T>G SNV other 82308 rs74433109 5:112067516-112067516 5:112731819-112731819 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+24001T>C SNV other 82309 rs75197531 5:112067580-112067580 5:112731883-112731883 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+25278G>T SNV other 82310 rs76303949 5:112068857-112068857 5:112733160-112733160 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+26182A>C SNV other 82311 rs75843289 5:112069761-112069761 5:112734064-112734064 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+26227C>A SNV other 82312 rs77145786 5:112069806-112069806 5:112734109-112734109 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+26367A>G SNV other 82313 rs10515446 5:112069946-112069946 5:112734249-112734249 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+26388T>C SNV other 82314 rs76453062 5:112069967-112069967 5:112734270-112734270 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+26518G>A SNV other 82315 rs80235152 5:112070097-112070097 5:112734400-112734400 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+26855C>A SNV other 82316 rs78036520 5:112070434-112070434 5:112734737-112734737 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+26904T>G SNV other 82317 rs78515301 5:112070483-112070483 5:112734786-112734786 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+26989G>C SNV other 82318 rs77976130 5:112070568-112070568 5:112734871-112734871 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+27024T>G SNV other 82319 rs79944732 5:112070603-112070603 5:112734906-112734906 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+27250T>C SNV other 82320 rs74894775 5:112070829-112070829 5:112735132-112735132 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+27966C>A SNV other 82321 rs76804233 5:112071545-112071545 5:112735848-112735848 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+28050G>A SNV other 82322 rs74380863 5:112071629-112071629 5:112735932-112735932 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+28770A>C SNV other 82323 rs74340362 5:112072349-112072349 5:112736652-112736652 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+28811A>G SNV other 82324 rs75860417 5:112072390-112072390 5:112736693-112736693 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.166-28742A>C SNV other 82325 rs79216719 5:112073281-112073281 5:112737584-112737584 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.166-28627T>G SNV other 82326 rs77733015 5:112073396-112073396 5:112737699-112737699 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.166-28622T>G SNV other 82327 rs78597499 5:112073401-112073401 5:112737704-112737704 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+49A>G SNV other 82328 rs76241113 5:112073671-112073671 5:112737974-112737974 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+53T>G SNV other 82329 rs80313086 5:112073675-112073675 5:112737978-112737978 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+561T>G SNV other 82330 rs75110764 5:112074183-112074183 5:112738486-112738486 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+695C>T SNV other 82331 rs76620114 5:112074317-112074317 5:112738620-112738620 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+904G>T SNV other 82332 rs79375613 5:112074526-112074526 5:112738829-112738829 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+913G>T SNV other 82333 rs77802252 5:112074535-112074535 5:112738838-112738838 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+1265T>C SNV other 82334 rs79187181 5:112074887-112074887 5:112739190-112739190 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+1838G>A SNV other 82335 rs78307381 5:112075460-112075460 5:112739763-112739763 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+1872G>T SNV other 82336 rs75812605 5:112075494-112075494 5:112739797-112739797 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+2145A>G SNV other 82337 rs76965783 5:112075767-112075767 5:112740070-112740070 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+2566C>A SNV other 82338 rs75791687 5:112076188-112076188 5:112740491-112740491 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+2871G>T SNV other 82339 rs76705974 5:112076493-112076493 5:112740796-112740796 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+2880G>T SNV other 82340 rs75496952 5:112076502-112076502 5:112740805-112740805 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+3869A>C SNV other 82341 rs74463383 5:112077491-112077491 5:112741794-112741794 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+3969G>T SNV other 82342 rs78511549 5:112077591-112077591 5:112741894-112741894 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+4670G>T SNV other 82343 rs79278712 5:112078292-112078292 5:112742595-112742595 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+5495A>C SNV other 82344 rs77465371 5:112079117-112079117 5:112743420-112743420 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+5496T>A SNV other 82345 rs75951266 5:112079118-112079118 5:112743421-112743421 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+5503T>A SNV other 82346 rs80063288 5:112079125-112079125 5:112743428-112743428 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+5505A>G SNV other 82347 rs74943313 5:112079127-112079127 5:112743430-112743430 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+6805G>A SNV other 82348 rs76565133 5:112080427-112080427 5:112744730-112744730 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+7207T>A SNV other 82349 rs80258949 5:112080829-112080829 5:112745132-112745132 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+7711T>C SNV other 82350 rs75384810 5:112081333-112081333 5:112745636-112745636 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-8204G>C SNV other 82351 rs76308165 5:112082366-112082366 5:112746669-112746669 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-7763T>G SNV other 82352 rs74798743 5:112082807-112082807 5:112747110-112747110 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-6158A>G SNV other 82353 rs77761239 5:112084412-112084412 5:112748715-112748715 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-5649C>A SNV other 82354 rs78520528 5:112084921-112084921 5:112749224-112749224 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-5328C>A SNV other 82355 rs79440809 5:112085242-112085242 5:112749545-112749545 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-5320T>G SNV other 82356 rs77973517 5:112085250-112085250 5:112749553-112749553 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-5277A>C SNV other 82357 rs80351719 5:112085293-112085293 5:112749596-112749596 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-5107T>G SNV other 82358 rs75609412 5:112085463-112085463 5:112749766-112749766 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-4629T>G SNV other 82359 rs75886562 5:112085941-112085941 5:112750244-112750244 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-4623A>C SNV other 82360 rs75276466 5:112085947-112085947 5:112750250-112750250 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-1457G>T SNV other 82361 rs79521550 5:112089113-112089113 5:112753416-112753416 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-1160G>T SNV other 82362 rs79575641 5:112089410-112089410 5:112753713-112753713 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-62T>A SNV other 82363 rs76865148 5:112090508-112090508 5:112754811-112754811 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.135+859A>G SNV other 82364 rs74438587 5:112091581-112091581 5:112755884-112755884 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.135+862A>G SNV other 82365 rs75194627 5:112091584-112091584 5:112755887-112755887 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.135+2275G>T SNV other 82366 rs79425114 5:112092997-112092997 5:112757300-112757300 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.135+3581G>C SNV other 82367 rs79193737 5:112094303-112094303 5:112758606-112758606 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.135+3582A>C SNV other 82368 rs77757035 5:112094304-112094304 5:112758607-112758607 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.135+3586A>C SNV other 82369 rs76167643 5:112094308-112094308 5:112758611-112758611 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.135+3678T>G SNV other 82370 rs80009531 5:112094400-112094400 5:112758703-112758703 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.135+3679G>C SNV other 82371 rs75260747 5:112094401-112094401 5:112758704-112758704 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.135+3685T>C SNV other 82372 rs76963617 5:112094407-112094407 5:112758710-112758710 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.135+3728A>C SNV other 82373 rs75088576 5:112094450-112094450 5:112758753-112758753 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.135+4609C>G SNV other 82374 rs76716334 5:112095331-112095331 5:112759634-112759634 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.135+4614G>C SNV other 82375 rs76578536 5:112095336-112095336 5:112759639-112759639 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-5500T>C SNV other 82376 rs77636537 5:112096523-112096523 5:112760826-112760826 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-5499C>T SNV other 82377 rs78363681 5:112096524-112096524 5:112760827-112760827 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-5245T>G SNV other 82378 rs79277510 5:112096778-112096778 5:112761081-112761081 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-5227A>C SNV other 82379 rs77047220 5:112096796-112096796 5:112761099-112761099 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-3506G>T SNV other 82380 rs76529795 5:112098517-112098517 5:112762820-112762820 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-3072A>G SNV other 82381 rs76869117 5:112098951-112098951 5:112763254-112763254 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-2965G>A SNV other 82382 rs79620312 5:112099058-112099058 5:112763361-112763361 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-2953C>T SNV other 82383 rs78830334 5:112099070-112099070 5:112763373-112763373 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-2352A>C SNV other 82384 rs77616734 5:112099671-112099671 5:112763974-112763974 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-2333T>C SNV other 82385 rs7723423 5:112099690-112099690 5:112763993-112763993 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-2311A>G SNV other 82386 rs80044522 5:112099712-112099712 5:112764015-112764015 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-2231A>T SNV other 82387 rs74625414 5:112099792-112099792 5:112764095-112764095 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-2078A>C SNV other 82388 rs76315937 5:112099945-112099945 5:112764248-112764248 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-1763C>T SNV other 82389 rs75487989 5:112100260-112100260 5:112764563-112764563 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-1527G>A SNV other 82390 rs76596358 5:112100496-112100496 5:112764799-112764799 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-625A>C SNV other 82391 rs76452131 5:112101398-112101398 5:112765701-112765701 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-383G>T SNV other 82392 rs78519130 5:112101640-112101640 5:112765943-112765943 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-358C>A SNV other 82393 rs79439776 5:112101665-112101665 5:112765968-112765968 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-287A>G SNV other 82394 rs79035771 5:112101736-112101736 5:112766039-112766039 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-284A>G SNV other 82395 rs77335832 5:112101739-112101739 5:112766042-112766042 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-277T>G SNV other 82396 rs78728577 5:112101746-112101746 5:112766049-112766049 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-219C>A SNV other 82397 rs77470563 5:112101804-112101804 5:112766107-112766107 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-217C>A SNV other 82398 rs75348204 5:112101806-112101806 5:112766109-112766109 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.220+38G>T SNV other 82399 rs74340509 5:112102145-112102145 5:112766448-112766448 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.220+229T>G SNV other 82400 rs75275297 5:112102336-112102336 5:112766639-112766639 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.221-344A>G SNV other 82401 rs80142737 5:112102542-112102542 5:112766845-112766845 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.422+655T>C SNV other 82402 rs75297307 5:112103742-112103742 5:112768045-112768045 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.422+919T>C SNV other 82403 rs77088725 5:112104006-112104006 5:112768309-112768309 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.422+974A>C SNV other 82404 rs78035234 5:112104061-112104061 5:112768364-112768364 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.422+975A>C SNV other 82405 rs78594849 5:112104062-112104062 5:112768365-112768365 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.422+1015G>T SNV other 82406 rs79520514 5:112104102-112104102 5:112768405-112768405 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.422+1016A>C SNV other 82407 rs77664494 5:112104103-112104103 5:112768406-112768406 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.422+1113T>A SNV other 82408 rs78572209 5:112104200-112104200 5:112768503-112768503 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.422+1477A>G SNV other 82409 rs75734746 5:112104564-112104564 5:112768867-112768867 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.422+1575T>G SNV other 82410 rs79896273 5:112104662-112104662 5:112768965-112768965 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.422+1672T>G SNV other 82411 rs77262082 5:112104759-112104759 5:112769062-112769062 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.422+1806A>C SNV other 82412 rs75110922 5:112104893-112104893 5:112769196-112769196 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.422+2131G>T SNV other 82413 rs62364016 5:112105218-112105218 5:112769521-112769521 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.422+3192G>T SNV other 82414 rs76617755 5:112106279-112106279 5:112770582-112770582 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.422+3687G>C SNV other 82415 rs77732176 5:112106774-112106774 5:112771077-112771077 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.422+3986T>G SNV other 82416 rs80156934 5:112107073-112107073 5:112771376-112771376 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.423-3313C>A SNV other 82417 rs78426873 5:112108013-112108013 5:112772316-112772316 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.423-3178T>C SNV other 82418 rs77756384 5:112108148-112108148 5:112772451-112772451 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.423-2719G>T SNV other 82419 rs77986923 5:112108607-112108607 5:112772910-112772910 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.423-2650G>T SNV other 82420 rs76488927 5:112108676-112108676 5:112772979-112772979 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.423-1323A>G SNV other 82421 rs79801520 5:112110003-112110003 5:112774306-112774306 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.423-912T>C SNV other 82422 rs74364990 5:112110414-112110414 5:112774717-112774717 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.423-909A>C SNV other 82423 rs78509108 5:112110417-112110417 5:112774720-112774720 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.423-690C>G SNV other 82424 rs76881115 5:112110636-112110636 5:112774939-112774939 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.423-677C>T SNV other 82425 rs77633852 5:112110649-112110649 5:112774952-112774952 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.531+679A>G SNV other 82426 rs80067367 5:112112113-112112113 5:112776416-112776416 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.531+896T>C SNV other 82427 rs74950366 5:112112330-112112330 5:112776633-112776633 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.531+1622T>A SNV other 82428 rs75107583 5:112113056-112113056 5:112777359-112777359 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.532-2322A>T SNV other 82429 rs79079498 5:112114165-112114165 5:112778468-112778468 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.532-2267A>T SNV other 82430 rs79320593 5:112114220-112114220 5:112778523-112778523 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.532-2262C>A SNV other 82431 rs76698999 5:112114225-112114225 5:112778528-112778528 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.532-1968T>G SNV other 82432 rs77504852 5:112114519-112114519 5:112778822-112778822 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.532-1963G>C SNV other 82433 rs76314893 5:112114524-112114524 5:112778827-112778827 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+122A>G SNV other 82434 rs79741137 5:112116722-112116722 5:112781025-112781025 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+154C>A SNV other 82435 rs77200800 5:112116754-112116754 5:112781057-112781057 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+876C>T SNV other 82436 rs79407742 5:112117476-112117476 5:112781779-112781779 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+1270T>C SNV other 82437 rs77978674 5:112117870-112117870 5:112782173-112782173 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+1462C>A SNV other 82438 rs79042793 5:112118062-112118062 5:112782365-112782365 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+1515G>T SNV other 82439 rs75550041 5:112118115-112118115 5:112782418-112782418 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+3021C>T SNV other 82440 rs75273968 5:112119621-112119621 5:112783924-112783924 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+3078C>A SNV other 82441 rs76564413 5:112119678-112119678 5:112783981-112783981 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+3205C>A SNV other 82442 rs78335460 5:112119805-112119805 5:112784108-112784108 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+3276T>C SNV other 82443 rs75980116 5:112119876-112119876 5:112784179-112784179 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+3446T>G SNV other 82444 rs80103183 5:112120046-112120046 5:112784349-112784349 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+3454T>G SNV other 82445 rs75224978 5:112120054-112120054 5:112784357-112784357 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+3455G>C SNV other 82446 rs78601717 5:112120055-112120055 5:112784358-112784358 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+3709C>G SNV other 82447 rs79525818 5:112120309-112120309 5:112784612-112784612 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+3714G>A SNV other 82448 rs77675119 5:112120314-112120314 5:112784617-112784617 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+3718T>C SNV other 82449 rs78548578 5:112120318-112120318 5:112784621-112784621 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+3976G>C SNV other 82450 rs77299496 5:112120576-112120576 5:112784879-112784879 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+3978A>C SNV other 82451 rs78918340 5:112120578-112120578 5:112784881-112784881 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+4262G>T SNV other 82452 rs76768942 5:112120862-112120862 5:112785165-112785165 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+4263A>T SNV other 82453 rs80274734 5:112120863-112120863 5:112785166-112785166 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+5003A>T SNV other 82454 rs76009673 5:112121603-112121603 5:112785906-112785906 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+5030A>G SNV other 82455 rs74436805 5:112121630-112121630 5:112785933-112785933 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+5134C>A SNV other 82456 rs74873706 5:112121734-112121734 5:112786037-112786037 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+5220G>T SNV other 82457 rs75919833 5:112121820-112121820 5:112786123-112786123 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+5236A>C SNV other 82458 rs74807701 5:112121836-112121836 5:112786139-112786139 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+5391T>G SNV other 82459 rs79365209 5:112121991-112121991 5:112786294-112786294 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-5277T>G SNV other 82460 rs78434833 5:112122866-112122866 5:112787169-112787169 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-4989T>C SNV other 82461 rs79164048 5:112123154-112123154 5:112787457-112787457 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-4968C>A SNV other 82462 rs77760414 5:112123175-112123175 5:112787478-112787478 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-4504G>T SNV other 82463 rs78520440 5:112123639-112123639 5:112787942-112787942 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-4308T>G SNV other 82464 rs80013682 5:112123835-112123835 5:112788138-112788138 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-4302A>C SNV other 82465 rs74983697 5:112123841-112123841 5:112788144-112788144 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-4019C>A SNV other 82466 rs79759582 5:112124124-112124124 5:112788427-112788427 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-3605C>T SNV other 82467 rs75085438 5:112124538-112124538 5:112788841-112788841 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-3277T>C SNV other 82468 rs75751638 5:112124866-112124866 5:112789169-112789169 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-3193C>A SNV other 82469 rs76711494 5:112124950-112124950 5:112789253-112789253 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-2890T>C SNV other 82470 rs76574046 5:112125253-112125253 5:112789556-112789556 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-2481T>C SNV other 82471 rs77271824 5:112125662-112125662 5:112789965-112789965 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-1836T>G SNV other 82472 rs78367110 5:112126307-112126307 5:112790610-112790610 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-1599T>G SNV other 82473 rs78300949 5:112126544-112126544 5:112790847-112790847 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-966C>G SNV other 82474 rs77050639 5:112127177-112127177 5:112791480-112791480 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-847T>C SNV other 82475 rs77916048 5:112127296-112127296 5:112791599-112791599 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-431A>C SNV other 82476 rs76248317 5:112127712-112127712 5:112792015-112792015 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-86G>T SNV other 82477 rs80121748 5:112128057-112128057 5:112792360-112792360 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-76G>T SNV other 82478 rs75719476 5:112128067-112128067 5:112792370-112792370 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.729+23T>G SNV other 82479 rs75111475 5:112128249-112128249 5:112792552-112792552 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.729+88T>C SNV other 82480 rs79627325 5:112128314-112128314 5:112792617-112792617 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.729+447A>G SNV other 82481 rs75248404 5:112128673-112128673 5:112792976-112792976 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.729+964A>C SNV other 82482 rs78406999 5:112129190-112129190 5:112793493-112793493 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.729+970A>T SNV other 82483 rs79631489 5:112129196-112129196 5:112793499-112793499 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.729+1527A>G SNV other 82484 rs78185081 5:112129753-112129753 5:112794056-112794056 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.729+1530T>A SNV other 82485 rs77524587 5:112129756-112129756 5:112794059-112794059 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.729+1618C>A SNV other 82486 rs76053499 5:112129844-112129844 5:112794147-112794147 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.729+1672T>C SNV other 82487 rs79860051 5:112129898-112129898 5:112794201-112794201 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.729+1829G>C SNV other 82488 rs74622593 5:112130055-112130055 5:112794358-112794358 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.729+2040T>C SNV other 82489 rs75485063 5:112130266-112130266 5:112794569-112794569 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.729+2184T>C SNV other 82490 rs76600947 5:112130410-112130410 5:112794713-112794713 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.729+2218T>C SNV other 82491 rs74749425 5:112130444-112130444 5:112794747-112794747 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.729+2258T>C SNV other 82492 rs80220815 5:112130484-112130484 5:112794787-112794787 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.729+2619T>G SNV other 82493 rs75074935 5:112130845-112130845 5:112795148-112795148 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.729+2781G>C SNV other 82494 rs79487788 5:112131007-112131007 5:112795310-112795310 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.729+2876T>C SNV other 82495 rs79404714 5:112131102-112131102 5:112795405-112795405 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.729+3619G>A SNV other 82496 rs79688003 5:112131845-112131845 5:112796148-112796148 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-4028A>G SNV other 82497 rs76804542 5:112132948-112132948 5:112797251-112797251 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-3290A>C SNV other 82498 rs77463678 5:112133686-112133686 5:112797989-112797989 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-3130C>A SNV other 82499 rs75948898 5:112133846-112133846 5:112798149-112798149 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-3103C>A SNV other 82500 rs76045097 5:112133873-112133873 5:112798176-112798176 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-2871A>G SNV other 82501 rs74345810 5:112134105-112134105 5:112798408-112798408 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-2731A>G SNV other 82502 rs75280772 5:112134245-112134245 5:112798548-112798548 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-2463T>G SNV other 82503 rs76529910 5:112134513-112134513 5:112798816-112798816 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-2460C>T SNV other 82504 rs75308132 5:112134516-112134516 5:112798819-112798819 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-2139C>T SNV other 82505 rs1644240 5:112134837-112134837 5:112799140-112799140 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-2071A>C SNV other 82506 rs77092769 5:112134905-112134905 5:112799208-112799208 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-1469C>A SNV other 82507 rs77670933 5:112135507-112135507 5:112799810-112799810 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-1052C>A SNV other 82508 rs79625622 5:112135924-112135924 5:112800227-112800227 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-170T>G SNV other 82509 rs79705999 5:112136806-112136806 5:112801109-112801109 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-168G>C SNV other 82510 rs77260248 5:112136808-112136808 5:112801111-112801111 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-167A>C SNV other 82511 rs78784580 5:112136809-112136809 5:112801112-112801112 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+562A>T SNV other 82512 rs76017778 5:112137642-112137642 5:112801945-112801945 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+588T>A SNV other 82513 rs74410990 5:112137668-112137668 5:112801971-112801971 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+1020G>T SNV other 82514 rs74882548 5:112138100-112138100 5:112802403-112802403 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+1462A>G SNV other 82515 rs77744608 5:112138542-112138542 5:112802845-112802845 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+2344A>G SNV other 82516 rs1613148 5:112139424-112139424 5:112803727-112803727 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+2538T>C SNV other 82517 rs78431508 5:112139618-112139618 5:112803921-112803921 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+2942A>G SNV other 82518 rs17134945 5:112140022-112140022 5:112804325-112804325 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+3019G>T SNV other 82519 rs78519822 5:112140099-112140099 5:112804402-112804402 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+3347A>C SNV other 82520 rs77980729 5:112140427-112140427 5:112804730-112804730 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+3349A>C SNV other 82521 rs76484255 5:112140429-112140429 5:112804732-112804732 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+3690G>T SNV other 82522 rs75762078 5:112140770-112140770 5:112805073-112805073 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+3861T>C SNV other 82523 rs79627126 5:112140941-112140941 5:112805244-112805244 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+4102G>T SNV other 82524 rs75016706 5:112141182-112141182 5:112805485-112805485 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+4966C>G SNV other 82525 rs77288644 5:112142046-112142046 5:112806349-112806349 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+5107C>A SNV other 82526 rs78366520 5:112142187-112142187 5:112806490-112806490 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+5290G>C SNV other 82527 rs78296133 5:112142370-112142370 5:112806673-112806673 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+5752G>A SNV other 82528 rs74947623 5:112142832-112142832 5:112807135-112807135 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+5755A>G SNV other 82529 rs77111315 5:112142835-112142835 5:112807138-112807138 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+5772T>A SNV other 82530 rs74848012 5:112142852-112142852 5:112807155-112807155 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+6131A>T SNV other 82531 rs75729764 5:112143211-112143211 5:112807514-112807514 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+6208C>G SNV other 82532 rs76825759 5:112143288-112143288 5:112807591-112807591 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+6209T>G SNV other 82533 rs74778662 5:112143289-112143289 5:112807592-112807592 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+6211G>T SNV other 82534 rs75658020 5:112143291-112143291 5:112807594-112807594 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+6270G>A SNV other 82535 rs80261220 5:112143350-112143350 5:112807653-112807653 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+6275A>C SNV other 82536 rs75341445 5:112143355-112143355 5:112807658-112807658 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+6505C>G SNV other 82537 rs79818818 5:112143585-112143585 5:112807888-112807888 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+6622A>T SNV other 82538 rs77302054 5:112143702-112143702 5:112808005-112808005 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+6854C>A SNV other 82539 rs78184562 5:112143934-112143934 5:112808237-112808237 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-6252A>C SNV other 82540 rs78427122 5:112144940-112144940 5:112809243-112809243 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-5123C>T SNV other 82541 rs75781702 5:112146069-112146069 5:112810372-112810372 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-4928C>T SNV other 82542 rs75495165 5:112146264-112146264 5:112810567-112810567 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-4425A>C SNV other 82543 rs76601225 5:112146767-112146767 5:112811070-112811070 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-4348T>G SNV other 82544 rs74748819 5:112146844-112146844 5:112811147-112811147 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-4342A>G SNV other 82545 rs79721140 5:112146850-112146850 5:112811153-112811153 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-3533T>A SNV other 82546 rs77203577 5:112147659-112147659 5:112811962-112811962 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-3531G>T SNV other 82547 rs78088180 5:112147661-112147661 5:112811964-112811964 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-3022T>C SNV other 82548 rs76177466 5:112148170-112148170 5:112812473-112812473 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-1830C>T SNV other 82549 rs77977086 5:112149362-112149362 5:112813665-112813665 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-1827G>C SNV other 82550 rs79039159 5:112149365-112149365 5:112813668-112813668 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-1816A>G SNV other 82551 rs79687866 5:112149376-112149376 5:112813679-112813679 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-1654T>C SNV other 82552 rs78071534 5:112149538-112149538 5:112813841-112813841 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-1028A>C SNV other 82553 rs79113455 5:112150164-112150164 5:112814467-112814467 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-1026T>C SNV other 82554 rs76735805 5:112150166-112150166 5:112814469-112814469 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-630T>C SNV other 82555 rs74346093 5:112150562-112150562 5:112814865-112814865 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.933+79A>C SNV other 82556 rs75280663 5:112151369-112151369 5:112815672-112815672 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.933+81A>C SNV other 82557 rs76528895 5:112151371-112151371 5:112815674-112815674 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.933+277A>C SNV other 82558 rs74531281 5:112151567-112151567 5:112815870-112815870 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.933+517T>C SNV other 82559 rs75985408 5:112151807-112151807 5:112816110-112816110 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.933+916T>G SNV other 82560 rs17134960 5:112152206-112152206 5:112816509-112816509 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.933+939A>C SNV other 82561 rs77670822 5:112152229-112152229 5:112816532-112816532 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.933+1353G>C SNV other 82562 rs79631752 5:112152643-112152643 5:112816946-112816946 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.933+1540G>A SNV other 82563 rs78924999 5:112152830-112152830 5:112817133-112817133 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.934-515A>T SNV other 82564 rs74509144 5:112154148-112154148 5:112818451-112818451 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.934-123T>G SNV other 82565 rs79163044 5:112154540-112154540 5:112818843-112818843 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.934-122T>G SNV other 82566 rs77766408 5:112154541-112154541 5:112818844-112818844 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.934-120G>C SNV other 82567 rs78526198 5:112154543-112154543 5:112818846-112818846 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1312+352C>T SNV other 82568 rs79764746 5:112155393-112155393 5:112819696-112819696 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1312+1042A>C SNV other 82569 rs75014659 5:112156083-112156083 5:112820386-112820386 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1312+1056A>C SNV other 82570 rs76044691 5:112156097-112156097 5:112820400-112820400 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1312+1059A>C SNV other 82571 rs75435442 5:112156100-112156100 5:112820403-112820403 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1313-476T>G SNV other 82572 rs74842328 5:112157117-112157117 5:112821420-112821420 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1408+524C>A SNV other 82573 rs79204769 5:112158212-112158212 5:112822515-112822515 CLR023 Colorectal Cancer ARID1A NM_006015.6(ARID1A):c.1653C>G (p.Tyr551Ter) SNV association 523633 rs1553149467 1:27057945-27057945 1:26731454-26731454 CLR023 Colorectal Cancer ODC1 NM_002539.3(ODC1):c.-128+109G>A SNV protective 13806 rs2302615 2:10588138-10588138 2:10448012-10448012 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1408+890C>A SNV other 82575 rs79239291 5:112158578-112158578 5:112822881-112822881 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1408+2167A>T SNV other 82576 rs76823257 5:112159855-112159855 5:112824158-112824158 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1409-2234C>T SNV other 82577 rs76616867 5:112160571-112160571 5:112824874-112824874 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1409-1508C>A SNV other 82578 rs78153805 5:112161297-112161297 5:112825600-112825600 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1409-934C>G SNV other 82579 rs79511526 5:112161871-112161871 5:112826174-112826174 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1409-931G>T SNV other 82580 rs78861802 5:112161874-112161874 5:112826177-112826177 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1409-434C>A SNV other 82581 rs78974378 5:112162371-112162371 5:112826674-112826674 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1409-143G>T SNV other 82582 rs77980903 5:112162662-112162662 5:112826965-112826965 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1548+293A>G SNV other 82583 rs76597814 5:112163237-112163237 5:112827540-112827540 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1548+294G>T SNV other 82584 rs74747084 5:112163238-112163238 5:112827541-112827541 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+439T>A SNV other 82585 rs79045815 5:112165108-112165108 5:112829411-112829411 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+442G>C SNV other 82586 rs79659088 5:112165111-112165111 5:112829414-112829414 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+527C>A SNV other 82587 rs76813345 5:112165196-112165196 5:112829499-112829499 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+688T>G SNV other 82588 rs77471185 5:112165357-112165357 5:112829660-112829660 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+690G>C SNV other 82589 rs75463123 5:112165359-112165359 5:112829662-112829662 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+706C>T SNV other 82590 rs76839155 5:112165375-112165375 5:112829678-112829678 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+1062A>C SNV other 82591 rs75279428 5:112165731-112165731 5:112830034-112830034 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+1320G>A SNV other 82592 rs75190104 5:112165989-112165989 5:112830292-112830292 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+1377C>A SNV other 82593 rs74531593 5:112166046-112166046 5:112830349-112830349 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+1735T>G SNV other 82594 rs77072083 5:112166404-112166404 5:112830707-112830707 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+1898A>T SNV other 82595 rs76293295 5:112166567-112166567 5:112830870-112830870 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+1900G>T SNV other 82596 rs80072260 5:112166569-112166569 5:112830872-112830872 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+2155T>G SNV other 82597 rs77642001 5:112166824-112166824 5:112831127-112831127 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+2157A>T SNV other 82598 rs79631901 5:112166826-112166826 5:112831129-112831129 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+2159A>T SNV other 82599 rs78185547 5:112166828-112166828 5:112831131-112831131 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+2374A>C SNV other 82600 rs79779990 5:112167043-112167043 5:112831346-112831346 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+2399T>G SNV other 82601 rs77263155 5:112167068-112167068 5:112831371-112831371 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+2402T>G SNV other 82602 rs78786852 5:112167071-112167071 5:112831374-112831374 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-2727G>A SNV other 82603 rs11960216 5:112167921-112167921 5:112832224-112832224 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-2272A>C SNV other 82604 rs74730413 5:112168376-112168376 5:112832679-112832679 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-1872T>C SNV other 82605 rs77766685 5:112168776-112168776 5:112833079-112833079 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-1868T>C SNV other 82606 rs78526835 5:112168780-112168780 5:112833083-112833083 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-1829T>C SNV other 82607 rs79107355 5:112168819-112168819 5:112833122-112833122 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-1489T>G SNV other 82608 rs77700642 5:112169159-112169159 5:112833462-112833462 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-980T>G SNV other 82609 rs75549059 5:112169668-112169668 5:112833971-112833971 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-739T>G SNV other 82610 rs76718657 5:112169909-112169909 5:112834212-112834212 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-731T>G SNV other 82611 rs75015074 5:112169917-112169917 5:112834220-112834220 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-725A>C SNV other 82612 rs76053267 5:112169923-112169923 5:112834226-112834226 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-722A>C SNV other 82613 rs76649307 5:112169926-112169926 5:112834229-112834229 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1908T>G (p.Gly636=) SNV other 82614 rs79015778 5:112170812-112170812 5:112835115-112835115 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1958+397C>A SNV other 82617 rs76757140 5:112171259-112171259 5:112835562-112835562 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1958+423T>G SNV other 82618 rs75350935 5:112171285-112171285 5:112835588-112835588 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1958+632T>C SNV other 82619 rs79823354 5:112171494-112171494 5:112835797-112835797 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1958+637G>C SNV other 82620 rs77305982 5:112171499-112171499 5:112835802-112835802 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1958+692G>C SNV other 82621 rs79080534 5:112171554-112171554 5:112835857-112835857 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1958+695A>C SNV other 82622 rs77529757 5:112171557-112171557 5:112835860-112835860 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1958+732A>C SNV other 82623 rs78859219 5:112171594-112171594 5:112835897-112835897 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1958+1012C>T SNV other 82624 rs80012665 5:112171874-112171874 5:112836177-112836177 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1958+1013C>T SNV other 82625 rs74983686 5:112171875-112171875 5:112836178-112836178 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1958+1133T>G SNV other 82626 rs75499375 5:112171995-112171995 5:112836298-112836298 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1959-890A>G SNV other 82627 rs74712350 5:112172360-112172360 5:112836663-112836663 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1959-838T>C SNV other 82628 rs75760698 5:112172412-112172412 5:112836715-112836715 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1959-837C>T SNV other 82629 rs77208670 5:112172413-112172413 5:112836716-112836716 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1959-766A>G SNV other 82630 rs78109460 5:112172484-112172484 5:112836787-112836787 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.2510C>G (p.Ser837Ter) SNV other 82631 rs79512956 5:112173801-112173801 5:112838104-112838104 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.2995C>A (p.Gln999Lys) SNV other 82632 rs75239284 5:112174286-112174286 5:112838589-112838589 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.4285C>A (p.Gln1429Lys) SNV other 82633 rs74535574 5:112175576-112175576 5:112839879-112839879 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.7049C>A (p.Ser2350Tyr) SNV other 82634 rs75207119 5:112178340-112178340 5:112842643-112842643 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+151G>T SNV other 82938 rs79484254 5:112116751-112116751 5:112781054-112781054 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+173A>G SNV other 82939 rs2289484 5:112116773-112116773 5:112781076-112781076 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+541T>A SNV other 82940 rs76178467 5:112117141-112117141 5:112781444-112781444 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+572T>C SNV other 82941 rs80191777 5:112117172-112117172 5:112781475-112781475 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+574A>T SNV other 82942 rs75670678 5:112117174-112117174 5:112781477-112781477 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+792C>A SNV other 82943 rs79762598 5:112117392-112117392 5:112781695-112781695 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+794G>T SNV other 82944 rs77931150 5:112117394-112117394 5:112781697-112781697 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+875T>C SNV other 82945 rs75065846 5:112117475-112117475 5:112781778-112781778 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+1460G>A SNV other 82946 rs76126959 5:112118060-112118060 5:112782363-112782363 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+1468C>A SNV other 82947 rs74393582 5:112118068-112118068 5:112782371-112782371 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+1595G>A SNV other 82948 rs2431242 5:112118195-112118195 5:112782498-112782498 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+1738G>A SNV other 82949 rs2439595 5:112118338-112118338 5:112782641-112782641 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+2356C>T SNV other 82950 rs2431512 5:112118956-112118956 5:112783259-112783259 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+2532T>G SNV other 82951 rs76061636 5:112119132-112119132 5:112783435-112783435 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+2607A>C SNV other 82952 rs78971133 5:112119207-112119207 5:112783510-112783510 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+2702C>A SNV other 82953 rs75656513 5:112119302-112119302 5:112783605-112783605 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+2922A>T SNV other 82954 rs79861387 5:112119522-112119522 5:112783825-112783825 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+2923C>A SNV other 82955 rs79285786 5:112119523-112119523 5:112783826-112783826 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+2924C>A SNV other 82956 rs77714804 5:112119524-112119524 5:112783827-112783827 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+2955G>A SNV other 82957 rs79650022 5:112119555-112119555 5:112783858-112783858 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+2956T>A SNV other 82958 rs74649063 5:112119556-112119556 5:112783859-112783859 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+3066G>T SNV other 82959 rs79246547 5:112119666-112119666 5:112783969-112783969 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+3449G>C SNV other 82960 rs77635560 5:112120049-112120049 5:112784352-112784352 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+4367G>T SNV other 82961 rs76903962 5:112120967-112120967 5:112785270-112785270 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+4368C>T SNV other 82962 rs75172138 5:112120968-112120968 5:112785271-112785271 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+4547C>A SNV other 82963 rs75710483 5:112121147-112121147 5:112785450-112785450 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+4775C>A SNV other 82964 rs76856899 5:112121375-112121375 5:112785678-112785678 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+5258C>A SNV other 82965 rs80039558 5:112121858-112121858 5:112786161-112786161 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-5611G>C SNV other 82966 rs2707765 5:112122532-112122532 5:112786835-112786835 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-5554T>C SNV other 82967 rs75822244 5:112122589-112122589 5:112786892-112786892 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-5274G>C SNV other 82968 rs78446885 5:112122869-112122869 5:112787172-112787172 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-5193G>T SNV other 82969 rs78834710 5:112122950-112122950 5:112787253-112787253 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-5189C>T SNV other 82970 rs77581862 5:112122954-112122954 5:112787257-112787257 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-4934A>G SNV other 82971 rs78471808 5:112123209-112123209 5:112787512-112787512 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-4667G>T SNV other 82972 rs76978900 5:112123476-112123476 5:112787779-112787779 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-4665G>T SNV other 82973 rs78188227 5:112123478-112123478 5:112787781-112787781 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-4545A>G SNV other 82974 rs76441987 5:112123598-112123598 5:112787901-112787901 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-4395C>A SNV other 82975 rs80223805 5:112123748-112123748 5:112788051-112788051 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-4096G>T SNV other 82976 rs75093809 5:112124047-112124047 5:112788350-112788350 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-4015T>C SNV other 82977 rs79487550 5:112124128-112124128 5:112788431-112788431 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-4010G>A SNV other 82978 rs76304327 5:112124133-112124133 5:112788436-112788436 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-4009A>C SNV other 82979 rs75508184 5:112124134-112124134 5:112788437-112788437 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-3774T>C SNV other 82980 rs2431238 5:112124369-112124369 5:112788672-112788672 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-3762T>C SNV other 82981 rs79433398 5:112124381-112124381 5:112788684-112788684 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-3040C>T SNV other 82982 rs77979361 5:112125103-112125103 5:112789406-112789406 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-3037C>T SNV other 82983 rs79043887 5:112125106-112125106 5:112789409-112789409 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-3035A>T SNV other 82984 rs77451330 5:112125108-112125108 5:112789411-112789411 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-2724A>G SNV other 82985 rs1734242 5:112125419-112125419 5:112789722-112789722 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-2576T>C SNV other 82986 rs76425429 5:112125567-112125567 5:112789870-112789870 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-2575C>T SNV other 82987 rs79705778 5:112125568-112125568 5:112789871-112789871 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-2481T>A SNV other 82988 rs77271824 5:112125662-112125662 5:112789965-112789965 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-2478T>C SNV other 82989 rs78017053 5:112125665-112125665 5:112789968-112789968 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-2133T>G SNV other 82990 rs74873060 5:112126010-112126010 5:112790313-112790313 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-2123G>T SNV other 82991 rs79234008 5:112126020-112126020 5:112790323-112790323 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-2105G>T SNV other 82992 rs76817424 5:112126038-112126038 5:112790341-112790341 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-1833G>C SNV other 82993 rs75205995 5:112126310-112126310 5:112790613-112790613 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-1798T>C SNV other 82994 rs79949837 5:112126345-112126345 5:112790648-112790648 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-1550C>A SNV other 82995 rs78285873 5:112126593-112126593 5:112790896-112790896 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-1466T>G SNV other 82996 rs74588490 5:112126677-112126677 5:112790980-112790980 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-1465A>T SNV other 82997 rs75265239 5:112126678-112126678 5:112790981-112790981 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-1464T>G SNV other 82998 rs80137954 5:112126679-112126679 5:112790982-112790982 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-755A>T SNV other 82999 rs75313670 5:112127388-112127388 5:112791691-112791691 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-754G>A SNV other 83000 rs80316501 5:112127389-112127389 5:112791692-112791692 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-721A>T SNV other 83001 rs75720038 5:112127422-112127422 5:112791725-112791725 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-684T>C SNV other 83002 rs79890070 5:112127459-112127459 5:112791762-112791762 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-309T>G SNV other 83003 rs78602900 5:112127834-112127834 5:112792137-112792137 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-85C>T SNV other 83004 rs79526587 5:112128058-112128058 5:112792361-112792361 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-75G>T SNV other 83005 rs77939672 5:112128068-112128068 5:112792371-112792371 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646-1G>T SNV other 83006 rs78847145 5:112128142-112128142 5:112792445-112792445 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.729+968A>T SNV other 83007 rs75075708 5:112129194-112129194 5:112793497-112793497 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.729+969C>A SNV other 83008 rs79184658 5:112129195-112129195 5:112793498-112793498 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.729+1528G>A SNV other 83009 rs66964065 5:112129754-112129754 5:112794057-112794057 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.729+1830C>G SNV other 83010 rs74725869 5:112130056-112130056 5:112794359-112794359 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.729+1832T>G SNV other 83011 rs75463737 5:112130058-112130058 5:112794361-112794361 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.729+1860C>A SNV other 83012 rs1734243 5:112130086-112130086 5:112794389-112794389 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.729+2014C>A SNV other 83013 rs74430142 5:112130240-112130240 5:112794543-112794543 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.729+2019G>C SNV other 83014 rs78508329 5:112130245-112130245 5:112794548-112794548 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.729+2220T>C SNV other 83015 rs76128889 5:112130446-112130446 5:112794749-112794749 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.729+2222C>A SNV other 83016 rs77118364 5:112130448-112130448 5:112794751-112794751 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.729+2776C>A SNV other 83017 rs76118962 5:112131002-112131002 5:112795305-112795305 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.729+3062A>G SNV other 83018 rs2431514 5:112131288-112131288 5:112795591-112795591 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.729+3561A>G SNV other 83019 rs2464803 5:112131787-112131787 5:112796090-112796090 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.729+4308A>T SNV other 83020 rs78704421 5:112132534-112132534 5:112796837-112796837 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-4269T>A SNV other 83021 rs76293460 5:112132707-112132707 5:112797010-112797010 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-2883G>T SNV other 83022 rs77625365 5:112134093-112134093 5:112798396-112798396 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-2658A>G SNV other 83023 rs78370989 5:112134318-112134318 5:112798621-112798621 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-2624C>A SNV other 83024 rs77181172 5:112134352-112134352 5:112798655-112798655 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-2473G>T SNV other 83025 rs78513640 5:112134503-112134503 5:112798806-112798806 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-2333A>C SNV other 83026 rs76500274 5:112134643-112134643 5:112798946-112798946 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-2236C>A SNV other 83027 rs80347010 5:112134740-112134740 5:112799043-112799043 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-2198C>G SNV other 83028 rs79286992 5:112134778-112134778 5:112799081-112799081 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-2196C>G SNV other 83029 rs77721557 5:112134780-112134780 5:112799083-112799083 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-1909T>C SNV other 83030 rs517947 5:112135067-112135067 5:112799370-112799370 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-1886G>A SNV other 83031 rs518013 5:112135090-112135090 5:112799393-112799393 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-1879T>C SNV other 83032 rs79794561 5:112135097-112135097 5:112799400-112799400 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-1797C>G SNV other 83033 rs74386773 5:112135179-112135179 5:112799482-112799482 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-1477T>A SNV other 83034 rs78193332 5:112135499-112135499 5:112799802-112799802 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-1255T>A SNV other 83035 rs75174039 5:112135721-112135721 5:112800024-112800024 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-1239A>G SNV other 83036 rs2251913 5:112135737-112135737 5:112800040-112800040 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-772A>G SNV other 83037 rs511906 5:112136204-112136204 5:112800507-112800507 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-565G>T SNV other 83038 rs74939183 5:112136411-112136411 5:112800714-112800714 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-165C>T SNV other 83039 rs79566745 5:112136811-112136811 5:112801114-112801114 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-163C>T SNV other 83040 rs76905906 5:112136813-112136813 5:112801116-112801116 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-162C>G SNV other 83041 rs76700290 5:112136814-112136814 5:112801117-112801117 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-130C>G SNV other 83042 rs77553156 5:112136846-112136846 5:112801149-112801149 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.730-128G>T SNV other 83043 rs77533107 5:112136848-112136848 5:112801151-112801151 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+1109G>A SNV other 83044 rs77862570 5:112138189-112138189 5:112802492-112802492 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+1163G>A SNV other 83045 rs75822880 5:112138243-112138243 5:112802546-112802546 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+1654G>A SNV other 83046 rs529076 5:112138734-112138734 5:112803037-112803037 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+1808G>C SNV other 83047 rs2952615 5:112138888-112138888 5:112803191-112803191 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+2554A>C SNV other 83048 rs75115654 5:112139634-112139634 5:112803937-112803937 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+2665A>G SNV other 83049 rs2545158 5:112139745-112139745 5:112804048-112804048 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+3276T>G SNV other 83050 rs75020201 5:112140356-112140356 5:112804659-112804659 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+3389T>C SNV other 83051 rs75373311 5:112140469-112140469 5:112804772-112804772 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+3490T>G SNV other 83052 rs79822557 5:112140570-112140570 5:112804873-112804873 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+3510A>G SNV other 83053 rs77583253 5:112140590-112140590 5:112804893-112804893 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+3625T>A SNV other 83054 rs78473324 5:112140705-112140705 5:112805008-112805008 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+3669A>G SNV other 83055 rs79381877 5:112140749-112140749 5:112805052-112805052 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+4073G>A SNV other 83056 rs75165325 5:112141153-112141153 5:112805456-112805456 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+4330C>A SNV other 83057 rs79415340 5:112141410-112141410 5:112805713-112805713 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+4667T>C SNV other 83058 rs77026538 5:112141747-112141747 5:112806050-112806050 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+4671A>C SNV other 83059 rs78088437 5:112141751-112141751 5:112806054-112806054 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+4674A>C SNV other 83060 rs75784685 5:112141754-112141754 5:112806057-112806057 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+4788G>C SNV other 83061 rs76301217 5:112141868-112141868 5:112806171-112806171 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+4789A>C SNV other 83062 rs74798358 5:112141869-112141869 5:112806172-112806172 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+4802T>C SNV other 83063 rs77984982 5:112141882-112141882 5:112806185-112806185 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+5281G>C SNV other 83064 rs79147157 5:112142361-112142361 5:112806664-112806664 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+5284T>C SNV other 83065 rs76427052 5:112142364-112142364 5:112806667-112806667 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+5293C>A SNV other 83066 rs79737175 5:112142373-112142373 5:112806676-112806676 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+5415G>T SNV other 83067 rs77207984 5:112142495-112142495 5:112806798-112806798 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+5754A>G SNV other 83068 rs78626122 5:112142834-112142834 5:112807137-112807137 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+5758A>G SNV other 83069 rs76555077 5:112142838-112142838 5:112807141-112807141 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.834+6943A>G SNV other 83070 rs2431241 5:112144023-112144023 5:112808326-112808326 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-6748A>T SNV other 83071 rs1914 5:112144444-112144444 5:112808747-112808747 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-6609G>T SNV other 83072 rs79030635 5:112144583-112144583 5:112808886-112808886 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-6238T>C SNV other 83073 rs395266 5:112144954-112144954 5:112809257-112809257 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-6094T>A SNV other 83074 rs75986063 5:112145098-112145098 5:112809401-112809401 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-5931C>A SNV other 83075 rs2546106 5:112145261-112145261 5:112809564-112809564 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-5500C>A SNV other 83076 rs74539680 5:112145692-112145692 5:112809995-112809995 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-5435A>G SNV other 83077 rs77646685 5:112145757-112145757 5:112810060-112810060 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-5434G>T SNV other 83078 rs76064772 5:112145758-112145758 5:112810061-112810061 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-5133G>T SNV other 83079 rs74588801 5:112146059-112146059 5:112810362-112810362 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-5075A>G SNV other 83080 rs454886 5:112146117-112146117 5:112810420-112810420 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-4995T>G SNV other 83081 rs390092 5:112146197-112146197 5:112810500-112810500 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-4672G>T SNV other 83082 rs78350021 5:112146520-112146520 5:112810823-112810823 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-4492C>A SNV other 83083 rs76381429 5:112146700-112146700 5:112811003-112811003 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-4336G>T SNV other 83084 rs75999225 5:112146856-112146856 5:112811159-112811159 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-4090G>T SNV other 83085 rs76319409 5:112147102-112147102 5:112811405-112811405 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-3245C>A SNV other 83086 rs78610234 5:112147947-112147947 5:112812250-112812250 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-1841G>C SNV other 83087 rs79512327 5:112149351-112149351 5:112813654-112813654 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-1818G>T SNV other 83088 rs77942523 5:112149374-112149374 5:112813677-112813677 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-1435T>C SNV other 83089 rs2545169 5:112149757-112149757 5:112814060-112814060 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-1318C>A SNV other 83090 rs77304181 5:112149874-112149874 5:112814177-112814177 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-1265A>G SNV other 83091 rs2707761 5:112149927-112149927 5:112814230-112814230 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-1223C>T SNV other 83092 rs74796412 5:112149969-112149969 5:112814272-112814272 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-998C>A SNV other 83093 rs79412241 5:112150194-112150194 5:112814497-112814497 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-989C>A SNV other 83094 rs77151166 5:112150203-112150203 5:112814506-112814506 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-963C>A SNV other 83095 rs78186993 5:112150229-112150229 5:112814532-112814532 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-731A>C SNV other 83096 rs74429825 5:112150461-112150461 5:112814764-112814764 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-730A>C SNV other 83097 rs75204869 5:112150462-112150462 5:112814765-112814765 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-728G>A SNV other 83098 rs78422948 5:112150464-112150464 5:112814767-112814767 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.835-727A>C SNV other 83099 rs80044112 5:112150465-112150465 5:112814768-112814768 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.933+544T>G SNV other 83100 rs76128575 5:112151834-112151834 5:112816137-112816137 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.933+934C>G SNV other 83101 rs74858737 5:112152224-112152224 5:112816527-112816527 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.933+937A>C SNV other 83102 rs76238841 5:112152227-112152227 5:112816530-112816530 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.933+942T>C SNV other 83103 rs78711649 5:112152232-112152232 5:112816535-112816535 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.933+943G>T SNV other 83104 rs79171167 5:112152233-112152233 5:112816536-112816536 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.933+1192C>A SNV other 83105 rs74652049 5:112152482-112152482 5:112816785-112816785 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.933+1200C>A SNV other 83106 rs78507273 5:112152490-112152490 5:112816793-112816793 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.933+1205G>A SNV other 83107 rs80194686 5:112152495-112152495 5:112816798-112816798 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.933+1206A>G SNV other 83108 rs75433732 5:112152496-112152496 5:112816799-112816799 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.933+1630C>T SNV other 83109 rs17164132 5:112152920-112152920 5:112817223-112817223 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.934-1544C>T SNV other 83110 rs2545165 5:112153119-112153119 5:112817422-112817422 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.934-1491C>A SNV other 83111 rs75075800 5:112153172-112153172 5:112817475-112817475 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.934-1168A>G SNV other 83112 rs392907 5:112153495-112153495 5:112817798-112817798 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.934-998C>T SNV other 83113 rs2545164 5:112153665-112153665 5:112817968-112817968 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.934-960A>G SNV other 83114 rs75005266 5:112153703-112153703 5:112818006-112818006 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.934-906T>C SNV other 83115 rs78751466 5:112153757-112153757 5:112818060-112818060 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.934-802C>A SNV other 83116 rs77378981 5:112153861-112153861 5:112818164-112818164 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.934-775C>T SNV other 83117 rs75859342 5:112153888-112153888 5:112818191-112818191 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.934-667C>G SNV other 83118 rs563556 5:112153996-112153996 5:112818299-112818299 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.934-509T>A SNV other 83119 rs76977827 5:112154154-112154154 5:112818457-112818457 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.934-508T>C SNV other 83120 rs78373307 5:112154155-112154155 5:112818458-112818458 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.934-360T>G SNV other 83121 rs464708 5:112154303-112154303 5:112818606-112818606 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.934-132G>T SNV other 83122 rs12521276 5:112154531-112154531 5:112818834-112818834 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.934-119C>G SNV other 83123 rs78602351 5:112154544-112154544 5:112818847-112818847 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1021C>A (p.Gln341Lys) SNV other 83124 rs77058194 5:112154750-112154750 5:112819053-112819053 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1274A>G (p.Glu425Gly) SNV other 83125 rs77907679 5:112155003-112155003 5:112819306-112819306 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1312+369C>A SNV other 83126 rs74736032 5:112155410-112155410 5:112819713-112819713 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1312+463C>G SNV other 83127 rs2545163 5:112155504-112155504 5:112819807-112819807 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1312+752G>C SNV other 83128 rs501250 5:112155793-112155793 5:112820096-112820096 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1312+1039T>G SNV other 83129 rs75710383 5:112156080-112156080 5:112820383-112820383 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1312+1041C>T SNV other 83130 rs76855953 5:112156082-112156082 5:112820385-112820385 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1312+1044G>T SNV other 83131 rs75114082 5:112156085-112156085 5:112820388-112820388 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1312+1058C>G SNV other 83132 rs79851383 5:112156099-112156099 5:112820402-112820402 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1313-892C>A SNV other 83133 rs76420505 5:112156701-112156701 5:112821004-112821004 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1313-730G>C SNV other 83134 rs6885768 5:112156863-112156863 5:112821166-112821166 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1408+295C>A SNV other 83135 rs76628974 5:112157983-112157983 5:112822286-112822286 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1408+743G>A SNV other 83136 rs2545162 5:112158431-112158431 5:112822734-112822734 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1408+806T>C SNV other 83137 rs78475274 5:112158494-112158494 5:112822797-112822797 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1408+1672A>G SNV other 83138 rs79083929 5:112159360-112159360 5:112823663-112823663 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1408+1697A>G SNV other 83139 rs2545160 5:112159385-112159385 5:112823688-112823688 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1408+1782A>G SNV other 83140 rs2546107 5:112159470-112159470 5:112823773-112823773 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1408+1857A>C SNV other 83141 rs75491644 5:112159545-112159545 5:112823848-112823848 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1408+1874A>G SNV other 83142 rs2545159 5:112159562-112159562 5:112823865-112823865 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1409-2531T>A SNV other 83143 rs78985134 5:112160274-112160274 5:112824577-112824577 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1409-2360A>T SNV other 83144 rs76989207 5:112160445-112160445 5:112824748-112824748 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1409-2358T>A SNV other 83145 rs74796938 5:112160447-112160447 5:112824750-112824750 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1409-2343A>T SNV other 83146 rs75821202 5:112160462-112160462 5:112824765-112824765 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1409-2342G>C SNV other 83147 rs77948403 5:112160463-112160463 5:112824766-112824766 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1409-1869T>C SNV other 83148 rs79032423 5:112160936-112160936 5:112825239-112825239 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1409-1860C>A SNV other 83149 rs76424346 5:112160945-112160945 5:112825248-112825248 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1409-1848G>A SNV other 83150 rs78265064 5:112160957-112160957 5:112825260-112825260 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1409-1847T>A SNV other 83151 rs76295624 5:112160958-112160958 5:112825261-112825261 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1409-1336C>A SNV other 83152 rs2546108 5:112161469-112161469 5:112825772-112825772 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1409-935T>G SNV other 83153 rs79411535 5:112161870-112161870 5:112826173-112826173 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1409-934C>T SNV other 83154 rs79511526 5:112161871-112161871 5:112826174-112826174 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1409-506C>A SNV other 83155 rs2546109 5:112162299-112162299 5:112826602-112826602 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1409-422A>T SNV other 83156 rs77627307 5:112162383-112162383 5:112826686-112826686 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1409-392A>G SNV other 83157 rs2546110 5:112162413-112162413 5:112826716-112826716 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1515G>T (p.Leu505Phe) SNV other 83158 rs77451514 5:112162911-112162911 5:112827214-112827214 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1548+298A>T SNV other 83159 rs75941845 5:112163242-112163242 5:112827545-112827545 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1626+135T>C SNV other 83160 rs74725935 5:112163838-112163838 5:112828141-112828141 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1626+290G>C SNV other 83161 rs74587487 5:112163993-112163993 5:112828296-112828296 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1627-315C>T SNV other 83162 rs187075 5:112164238-112164238 5:112828541-112828541 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+193G>A SNV other 83163 rs351772 5:112164862-112164862 5:112829165-112829165 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+299T>G SNV other 83164 rs79697679 5:112164968-112164968 5:112829271-112829271 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+344G>T SNV other 83165 rs77274836 5:112165013-112165013 5:112829316-112829316 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+347G>T SNV other 83166 rs77724846 5:112165016-112165016 5:112829319-112829319 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+349G>T SNV other 83167 rs76101832 5:112165018-112165018 5:112829321-112829321 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+445C>A SNV other 83168 rs80164775 5:112165114-112165114 5:112829417-112829417 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+972G>A SNV other 83169 rs78514921 5:112165641-112165641 5:112829944-112829944 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+973A>G SNV other 83170 rs78838474 5:112165642-112165642 5:112829945-112829945 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+1053T>C SNV other 83171 rs79636900 5:112165722-112165722 5:112830025-112830025 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+1378T>A SNV other 83172 rs67111599 5:112166047-112166047 5:112830350-112830350 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+1535T>A SNV other 83173 rs75007163 5:112166204-112166204 5:112830507-112830507 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+1539C>A SNV other 83174 rs76056284 5:112166208-112166208 5:112830511-112830511 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+1544A>C SNV other 83175 rs78798527 5:112166213-112166213 5:112830516-112830516 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+1623C>A SNV other 83176 rs75997944 5:112166292-112166292 5:112830595-112830595 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+1737A>G SNV other 83177 rs74417023 5:112166406-112166406 5:112830709-112830709 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+1810A>G SNV other 83178 rs75209153 5:112166479-112166479 5:112830782-112830782 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+2156G>T SNV other 83179 rs76302894 5:112166825-112166825 5:112831128-112831128 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+2158G>T SNV other 83180 rs79434877 5:112166827-112166827 5:112831130-112831130 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+2193G>A SNV other 83181 rs2253987 5:112166862-112166862 5:112831165-112831165 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+2461T>G SNV other 83182 rs544243 5:112167130-112167130 5:112831433-112831433 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1743+2918T>C SNV other 83183 rs548710 5:112167587-112167587 5:112831890-112831890 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-2827C>T SNV other 83184 rs569940 5:112167821-112167821 5:112832124-112832124 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-2707C>G SNV other 83185 rs2909958 5:112167941-112167941 5:112832244-112832244 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-2583A>G SNV other 83186 rs2909786 5:112168065-112168065 5:112832368-112832368 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-2518G>C SNV other 83187 rs2909787 5:112168130-112168130 5:112832433-112832433 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-2269T>C SNV other 83188 rs80072625 5:112168379-112168379 5:112832682-112832682 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-2182G>A SNV other 83189 rs78377209 5:112168466-112168466 5:112832769-112832769 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-2151T>A SNV other 83190 rs76499197 5:112168497-112168497 5:112832800-112832800 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-2150T>A SNV other 83191 rs80346480 5:112168498-112168498 5:112832801-112832801 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-2149T>C SNV other 83192 rs75560534 5:112168499-112168499 5:112832802-112832802 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-1921T>G SNV other 83193 rs76132650 5:112168727-112168727 5:112833030-112833030 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-1839C>A SNV other 83194 rs79274032 5:112168809-112168809 5:112833112-112833112 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-1262G>T SNV other 83195 rs77722546 5:112169386-112169386 5:112833689-112833689 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-1123T>A SNV other 83196 rs2546111 5:112169525-112169525 5:112833828-112833828 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-1024A>G SNV other 83197 rs918397 5:112169624-112169624 5:112833927-112833927 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-758C>G SNV other 83198 rs76577654 5:112169890-112169890 5:112834193-112834193 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-690A>T SNV other 83199 rs396971 5:112169958-112169958 5:112834261-112834261 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-577T>G SNV other 83200 rs77807720 5:112170071-112170071 5:112834374-112834374 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-574G>A SNV other 83201 rs74797473 5:112170074-112170074 5:112834377-112834377 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-569C>A SNV other 83202 rs79561619 5:112170079-112170079 5:112834382-112834382 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-566G>C SNV other 83203 rs77304999 5:112170082-112170082 5:112834385-112834385 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-564A>C SNV other 83204 rs78897872 5:112170084-112170084 5:112834387-112834387 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-486G>T SNV other 83205 rs75714389 5:112170162-112170162 5:112834465-112834465 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-485A>T SNV other 83206 rs75356316 5:112170163-112170163 5:112834466-112834466 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-427T>G SNV other 83207 rs79826411 5:112170221-112170221 5:112834524-112834524 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-363T>A SNV other 83208 rs77504726 5:112170285-112170285 5:112834588-112834588 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-290G>A SNV other 83209 rs458967 5:112170358-112170358 5:112834661-112834661 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-213T>A SNV other 83210 rs75768637 5:112170435-112170435 5:112834738-112834738 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1744-212G>T SNV other 83211 rs76836190 5:112170436-112170436 5:112834739-112834739 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.8137A>C (p.Met2713Leu) SNV other 82636 rs80277939 5:112179428-112179428 5:112843731-112843731 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.*134C>G SNV other 82637 rs76439767 5:112179957-112179957 5:112844260-112844260 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.*634C>A SNV other 82638 rs75495374 5:112180457-112180457 5:112844760-112844760 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.*1535G>T SNV other 82639 rs76017392 5:112181358-112181358 5:112845661-112845661 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.*2090C>A SNV other 82640 rs78525333 5:112181913-112181913 5:112846216-112846216 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+20015G>A SNV other 82696 rs79707630 5:112063594-112063594 5:112727897-112727897 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+20045A>C SNV other 82697 rs75168477 5:112063624-112063624 5:112727927-112727927 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+20046C>T SNV other 82698 rs80171990 5:112063625-112063625 5:112727928-112727928 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+20047C>T SNV other 82699 rs76301623 5:112063626-112063626 5:112727929-112727929 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+20065C>A SNV other 82700 rs78034483 5:112063644-112063644 5:112727947-112727947 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+20386C>A SNV other 82701 rs77088359 5:112063965-112063965 5:112728268-112728268 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+20389G>C SNV other 82702 rs79793039 5:112063968-112063968 5:112728271-112728271 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+20391G>C SNV other 82703 rs74441146 5:112063970-112063970 5:112728273-112728273 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+20395A>C SNV other 82704 rs78272631 5:112063974-112063974 5:112728277-112728277 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+20431G>T SNV other 82705 rs79348046 5:112064010-112064010 5:112728313-112728313 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+20531T>G SNV other 82706 rs77906590 5:112064110-112064110 5:112728413-112728413 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+20768T>G SNV other 82707 rs78382387 5:112064347-112064347 5:112728650-112728650 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+20769G>T SNV other 82708 rs77273330 5:112064348-112064348 5:112728651-112728651 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+20821G>A SNV other 82709 rs78535580 5:112064400-112064400 5:112728703-112728703 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+20822T>G SNV other 82710 rs78849835 5:112064401-112064401 5:112728704-112728704 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+20896A>T SNV other 82711 rs861674 5:112064475-112064475 5:112728778-112728778 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+21247G>C SNV other 82712 rs464338 5:112064826-112064826 5:112729129-112729129 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+22445G>T SNV other 82713 rs75617200 5:112066024-112066024 5:112730327-112730327 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+22536G>T SNV other 82714 rs76914770 5:112066115-112066115 5:112730418-112730418 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+22945G>C SNV other 82715 rs469336 5:112066524-112066524 5:112730827-112730827 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+23128C>A SNV other 82716 rs74691776 5:112066707-112066707 5:112731010-112731010 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+23563C>T SNV other 82717 rs468179 5:112067142-112067142 5:112731445-112731445 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+23715G>T SNV other 82718 rs78481688 5:112067294-112067294 5:112731597-112731597 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+25302G>T SNV other 82719 rs76695774 5:112068881-112068881 5:112733184-112733184 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+25847T>G SNV other 82720 rs77579487 5:112069426-112069426 5:112733729-112733729 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+25849G>C SNV other 82721 rs77941109 5:112069428-112069428 5:112733731-112733731 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+26911G>T SNV other 82722 rs12515164 5:112070490-112070490 5:112734793-112734793 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+26986G>A SNV other 82723 rs76512527 5:112070565-112070565 5:112734868-112734868 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+27344A>G SNV other 82724 rs80352142 5:112070923-112070923 5:112735226-112735226 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+27358A>G SNV other 82725 rs76319671 5:112070937-112070937 5:112735240-112735240 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+27849C>A SNV other 82726 rs74739374 5:112071428-112071428 5:112735731-112735731 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+28442T>C SNV other 82727 rs79316234 5:112072021-112072021 5:112736324-112736324 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.165+28443G>T SNV other 82728 rs77032928 5:112072022-112072022 5:112736325-112736325 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.166-28961T>A SNV other 82729 rs78810135 5:112073062-112073062 5:112737365-112737365 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.166-28960A>T SNV other 82730 rs77383524 5:112073063-112073063 5:112737366-112737366 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.166-28929A>T SNV other 82731 rs77854131 5:112073094-112073094 5:112737397-112737397 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.166-28783T>C SNV other 82732 rs75612255 5:112073240-112073240 5:112737543-112737543 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.166-28739T>C SNV other 82733 rs79734816 5:112073284-112073284 5:112737587-112737587 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.166-28714C>A SNV other 82734 rs79488395 5:112073309-112073309 5:112737612-112737612 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.166-28513G>C SNV other 82735 rs78037487 5:112073510-112073510 5:112737813-112737813 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.166-28466T>G SNV other 82736 rs75996864 5:112073557-112073557 5:112737860-112737860 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+42A>G SNV other 82737 rs80112297 5:112073664-112073664 5:112737967-112737967 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+141T>C SNV other 82738 rs74393987 5:112073763-112073763 5:112738066-112738066 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+148G>C SNV other 82739 rs79577178 5:112073770-112073770 5:112738073-112738073 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+559T>G SNV other 82740 rs77120173 5:112074181-112074181 5:112738484-112738484 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+563G>T SNV other 82741 rs78811626 5:112074185-112074185 5:112738488-112738488 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+647A>G SNV other 82742 rs2019720 5:112074269-112074269 5:112738572-112738572 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+694G>T SNV other 82743 rs79522969 5:112074316-112074316 5:112738619-112738619 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+734C>T SNV other 82744 rs2020383 5:112074356-112074356 5:112738659-112738659 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+797C>A SNV other 82745 rs78386365 5:112074419-112074419 5:112738722-112738722 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+888G>T SNV other 82746 rs76376330 5:112074510-112074510 5:112738813-112738813 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+894G>T SNV other 82747 rs75329700 5:112074516-112074516 5:112738819-112738819 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+1100C>G SNV other 82748 rs1974786 5:112074722-112074722 5:112739025-112739025 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+1328C>A SNV other 82749 rs74579629 5:112074950-112074950 5:112739253-112739253 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+1416G>T SNV other 82750 rs77310566 5:112075038-112075038 5:112739341-112739341 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+1718A>G SNV other 82751 rs78907369 5:112075340-112075340 5:112739643-112739643 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+1721A>G SNV other 82752 rs76069662 5:112075343-112075343 5:112739646-112739646 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+1830G>A SNV other 82753 rs79827817 5:112075452-112075452 5:112739755-112739755 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+2325T>C SNV other 82754 rs74627407 5:112075947-112075947 5:112740250-112740250 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+2868T>G SNV other 82755 rs77714918 5:112076490-112076490 5:112740793-112740793 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+3825T>A SNV other 82756 rs4705608 5:112077447-112077447 5:112741750-112741750 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+3861T>C SNV other 82757 rs75455838 5:112077483-112077483 5:112741786-112741786 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+3876G>C SNV other 82758 rs80011470 5:112077498-112077498 5:112741801-112741801 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+4059C>T SNV other 82759 rs7706623 5:112077681-112077681 5:112741984-112741984 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+4148A>G SNV other 82760 rs4705609 5:112077770-112077770 5:112742073-112742073 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+4298G>C SNV other 82761 rs4705610 5:112077920-112077920 5:112742223-112742223 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+4791C>A SNV other 82762 rs74427656 5:112078413-112078413 5:112742716-112742716 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+6005C>T SNV other 82763 rs75813016 5:112079627-112079627 5:112743930-112743930 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+6007G>T SNV other 82764 rs77813423 5:112079629-112079629 5:112743932-112743932 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+6054C>A SNV other 82765 rs78719754 5:112079676-112079676 5:112743979-112743979 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+6260T>G SNV other 82766 rs10071425 5:112079882-112079882 5:112744185-112744185 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+6803G>A SNV other 82767 rs76198215 5:112080425-112080425 5:112744728-112744728 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+6806A>T SNV other 82768 rs76978459 5:112080428-112080428 5:112744731-112744731 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+6807G>A SNV other 82769 rs75261426 5:112080429-112080429 5:112744732-112744732 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+7106G>A SNV other 82770 rs464002 5:112080728-112080728 5:112745031-112745031 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+7205G>A SNV other 82771 rs79655915 5:112080827-112080827 5:112745130-112745130 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+7206G>T SNV other 82772 rs77054573 5:112080828-112080828 5:112745131-112745131 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+7757C>A SNV other 82773 rs79334785 5:112081379-112081379 5:112745682-112745682 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+7791T>G SNV other 82774 rs79482241 5:112081413-112081413 5:112745716-112745716 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+7793C>G SNV other 82775 rs78123091 5:112081415-112081415 5:112745718-112745718 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+7795A>C SNV other 82776 rs76173496 5:112081417-112081417 5:112745720-112745720 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+8064G>T SNV other 82777 rs80193344 5:112081686-112081686 5:112745989-112745989 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+8065G>T SNV other 82778 rs77399711 5:112081687-112081687 5:112745990-112745990 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+8302A>G SNV other 82779 rs6594646 5:112081924-112081924 5:112746227-112746227 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+8413C>A SNV other 82780 rs75031223 5:112082035-112082035 5:112746338-112746338 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+8468T>G SNV other 82781 rs75068913 5:112082090-112082090 5:112746393-112746393 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+8469A>C SNV other 82782 rs76147666 5:112082091-112082091 5:112746394-112746394 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-19+8470A>C SNV other 82783 rs74581427 5:112082092-112082092 5:112746395-112746395 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-8447A>T SNV other 82784 rs79175013 5:112082123-112082123 5:112746426-112746426 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-7765C>A SNV other 82785 rs75728657 5:112082805-112082805 5:112747108-112747108 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-7760G>C SNV other 82786 rs77931349 5:112082810-112082810 5:112747113-112747113 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-7698C>A SNV other 82787 rs75603862 5:112082872-112082872 5:112747175-112747175 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-7632A>G SNV other 82788 rs79345778 5:112082938-112082938 5:112747241-112747241 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-7625A>G SNV other 82789 rs2112210 5:112082945-112082945 5:112747248-112747248 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-7621C>A SNV other 82790 rs78383074 5:112082949-112082949 5:112747252-112747252 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-6234A>G SNV other 82791 rs79280419 5:112084336-112084336 5:112748639-112748639 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-5318G>C SNV other 82792 rs75448677 5:112085252-112085252 5:112749555-112749555 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-5113C>A SNV other 82793 rs77576438 5:112085457-112085457 5:112749760-112749760 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-5070A>G SNV other 82794 rs75848865 5:112085500-112085500 5:112749803-112749803 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-4959T>G SNV other 82795 rs28373740 5:112085611-112085611 5:112749914-112749914 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-4635C>A SNV other 82796 rs80288037 5:112085935-112085935 5:112750238-112750238 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-4631C>A SNV other 82797 rs76924560 5:112085939-112085939 5:112750242-112750242 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-4626G>C SNV other 82798 rs75169120 5:112085944-112085944 5:112750247-112750247 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-4405T>A SNV other 82799 rs12518091 5:112086165-112086165 5:112750468-112750468 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-3696C>T SNV other 82800 rs11950612 5:112086874-112086874 5:112751177-112751177 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-3243T>G SNV other 82801 rs11954856 5:112087327-112087327 5:112751630-112751630 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-3206C>A SNV other 82802 rs79856040 5:112087364-112087364 5:112751667-112751667 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-2858T>C SNV other 82803 rs76885576 5:112087712-112087712 5:112752015-112752015 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-2634C>A SNV other 82804 rs77939971 5:112087936-112087936 5:112752239-112752239 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-2625C>A SNV other 82805 rs78847434 5:112087945-112087945 5:112752248-112752248 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-2126C>G SNV other 82806 rs74792427 5:112088444-112088444 5:112752747-112752747 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-2063G>A SNV other 82807 rs4705617 5:112088507-112088507 5:112752810-112752810 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-1966T>G SNV other 82808 rs6891448 5:112088604-112088604 5:112752907-112752907 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-1288T>C SNV other 82809 rs11241183 5:112089282-112089282 5:112753585-112753585 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-1121C>T SNV other 82810 rs76062715 5:112089449-112089449 5:112753752-112753752 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-1090T>C SNV other 82811 rs2439591 5:112089480-112089480 5:112753783-112753783 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-966G>T SNV other 82812 rs74698368 5:112089604-112089604 5:112753907-112753907 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-807C>A SNV other 82813 rs79955296 5:112089763-112089763 5:112754066-112754066 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-398A>C SNV other 82814 rs76429873 5:112090172-112090172 5:112754475-112754475 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-396T>A SNV other 82815 rs80230956 5:112090174-112090174 5:112754477-112754477 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-251G>A SNV other 82816 rs78038307 5:112090319-112090319 5:112754622-112754622 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-250C>G SNV other 82817 rs78810609 5:112090320-112090320 5:112754623-112754623 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-151G>T SNV other 82818 rs77384355 5:112090419-112090419 5:112754722-112754722 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-136G>T SNV other 82819 rs77982776 5:112090434-112090434 5:112754737-112754737 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-56C>A SNV other 82820 rs79234413 5:112090514-112090514 5:112754817-112754817 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.-18-53G>C SNV other 82821 rs77090722 5:112090517-112090517 5:112754820-112754820 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.135+610G>T SNV other 82822 rs80132568 5:112091332-112091332 5:112755635-112755635 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.135+982C>G SNV other 82823 rs4099181 5:112091704-112091704 5:112756007-112756007 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.135+1680T>G SNV other 82824 rs4705486 5:112092402-112092402 5:112756705-112756705 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.135+3577G>C SNV other 82825 rs76976179 5:112094299-112094299 5:112758602-112758602 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.135+3578C>A SNV other 82826 rs76013957 5:112094300-112094300 5:112758603-112758603 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.135+3580T>G SNV other 82827 rs74394833 5:112094302-112094302 5:112758605-112758605 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.135+3583G>C SNV other 82828 rs75330662 5:112094305-112094305 5:112758608-112758608 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.135+3682G>A SNV other 82829 rs10073398 5:112094404-112094404 5:112758707-112758707 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.135+3821A>C SNV other 82830 rs74578553 5:112094543-112094543 5:112758846-112758846 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.135+4410G>T SNV other 82831 rs75876029 5:112095132-112095132 5:112759435-112759435 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.135+4610G>A SNV other 82832 rs2546116 5:112095332-112095332 5:112759635-112759635 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.135+4611T>G SNV other 82833 rs77819922 5:112095333-112095333 5:112759636-112759636 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.135+4777T>A SNV other 82834 rs79703980 5:112095499-112095499 5:112759802-112759802 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.135+4782G>C SNV other 82835 rs77280974 5:112095504-112095504 5:112759807-112759807 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.135+5053T>A SNV other 82836 rs4705624 5:112095775-112095775 5:112760078-112760078 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-5501T>C SNV other 82837 rs78604264 5:112096522-112096522 5:112760825-112760825 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-5236T>G SNV other 82838 rs79527859 5:112096787-112096787 5:112761090-112761090 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-5233G>C SNV other 82839 rs78705673 5:112096790-112096790 5:112761093-112761093 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-4789G>A SNV other 82840 rs28578275 5:112097234-112097234 5:112761537-112761537 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-4684C>T SNV other 82841 rs80317562 5:112097339-112097339 5:112761642-112761642 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-4681G>T SNV other 82842 rs75740764 5:112097342-112097342 5:112761645-112761645 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-4266A>G SNV other 82843 rs11241184 5:112097757-112097757 5:112762060-112762060 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-3456A>T SNV other 82844 rs74473355 5:112098567-112098567 5:112762870-112762870 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-3112G>A SNV other 82845 rs380589 5:112098911-112098911 5:112763214-112763214 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-3085T>A SNV other 82846 rs9647582 5:112098938-112098938 5:112763241-112763241 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-2995A>G SNV other 82847 rs9647583 5:112099028-112099028 5:112763331-112763331 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-2963T>G SNV other 82848 rs78880731 5:112099060-112099060 5:112763363-112763363 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-2954T>C SNV other 82849 rs76994479 5:112099069-112099069 5:112763372-112763372 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-2831A>T SNV other 82850 rs78307272 5:112099192-112099192 5:112763495-112763495 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-2830T>A SNV other 82851 rs76113999 5:112099193-112099193 5:112763496-112763496 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-2828T>A SNV other 82852 rs79248399 5:112099195-112099195 5:112763498-112763498 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-2827G>C SNV other 82853 rs79068683 5:112099196-112099196 5:112763499-112763499 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-2527G>A SNV other 82854 rs7703438 5:112099496-112099496 5:112763799-112763799 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-2358T>G SNV other 82855 rs79485695 5:112099665-112099665 5:112763968-112763968 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-2355C>G SNV other 82856 rs75075213 5:112099668-112099668 5:112763971-112763971 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-2230A>T SNV other 82857 rs79492842 5:112099793-112099793 5:112764096-112764096 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-2228T>A SNV other 82858 rs77179372 5:112099795-112099795 5:112764098-112764098 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-1996G>A SNV other 82859 rs6867243 5:112100027-112100027 5:112764330-112764330 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-1966T>A SNV other 82860 rs77626584 5:112100057-112100057 5:112764360-112764360 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-1965A>G SNV other 82861 rs78371714 5:112100058-112100058 5:112764361-112764361 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-1728A>G SNV other 82862 rs75064858 5:112100295-112100295 5:112764598-112764598 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-1428A>C SNV other 82863 rs2464807 5:112100595-112100595 5:112764898-112764898 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-1084C>A SNV other 82864 rs74389055 5:112100939-112100939 5:112765242-112765242 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-1041T>G SNV other 82865 rs75950054 5:112100982-112100982 5:112765285-112765285 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-1001G>T SNV other 82866 rs79792854 5:112101022-112101022 5:112765325-112765325 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-808G>T SNV other 82867 rs79249699 5:112101215-112101215 5:112765518-112765518 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-566G>T SNV other 82868 rs12659119 5:112101457-112101457 5:112765760-112765760 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-527G>A SNV other 82869 rs2464806 5:112101496-112101496 5:112765799-112765799 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-350A>G SNV other 82870 rs78418904 5:112101673-112101673 5:112765976-112765976 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-230C>A SNV other 82871 rs2464805 5:112101793-112101793 5:112766096-112766096 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-220G>C SNV other 82872 rs78535297 5:112101803-112101803 5:112766106-112766106 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.136-53T>C SNV Benign, other 82873 rs2304793 5:112101970-112101970 5:112766273-112766273 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.185C>T (p.Ser62Phe) SNV other 82874 rs74727182 5:112102072-112102072 5:112766375-112766375 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.311C>A (p.Ser104Ter) SNV other 82876 rs74953290 5:112102976-112102976 5:112767279-112767279 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.422+365C>A SNV other 82877 rs75602292 5:112103452-112103452 5:112767755-112767755 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.422+876C>G SNV other 82878 rs2546117 5:112103963-112103963 5:112768266-112768266 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.422+1096C>A SNV other 82879 rs75166185 5:112104183-112104183 5:112768486-112768486 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.422+1210A>G SNV other 82880 rs35414976 5:112104297-112104297 5:112768600-112768600 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.422+1584T>C SNV other 82881 rs76318041 5:112104671-112104671 5:112768974-112768974 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.422+1942T>G SNV other 82882 rs74789138 5:112105029-112105029 5:112769332-112769332 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.422+2121T>G SNV other 82883 rs77010277 5:112105208-112105208 5:112769511-112769511 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.422+2136A>T SNV other 82884 rs77552656 5:112105223-112105223 5:112769526-112769526 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.422+2447G>A SNV other 82885 rs75372333 5:112105534-112105534 5:112769837-112769837 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.422+3533G>T SNV other 82886 rs78837782 5:112106620-112106620 5:112770923-112770923 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.422+3971G>A SNV other 82887 rs11241185 5:112107058-112107058 5:112771361-112771361 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.422+3997C>A SNV other 82888 rs6876867 5:112107084-112107084 5:112771387-112771387 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.423-3600C>T SNV other 82889 rs2439589 5:112107726-112107726 5:112772029-112772029 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.423-3307C>A SNV other 82890 rs78349576 5:112108019-112108019 5:112772322-112772322 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.423-3167T>A SNV other 82891 rs78042804 5:112108159-112108159 5:112772462-112772462 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.423-3166C>A SNV other 82892 rs77023098 5:112108160-112108160 5:112772463-112772463 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.423-3162A>C SNV other 82893 rs78112535 5:112108164-112108164 5:112772467-112772467 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.423-3029T>C SNV other 82894 rs75558943 5:112108297-112108297 5:112772600-112772600 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.423-2829A>C SNV other 82895 rs79915536 5:112108497-112108497 5:112772800-112772800 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.423-2461T>C SNV other 82896 rs2707763 5:112108865-112108865 5:112773168-112773168 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.423-2396C>A SNV other 82897 rs75837523 5:112108930-112108930 5:112773233-112773233 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.423-2365T>C SNV other 82898 rs80351787 5:112108961-112108961 5:112773264-112773264 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.423-2364T>A SNV other 82899 rs75582423 5:112108962-112108962 5:112773265-112773265 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.423-2361C>A SNV other 82900 rs79736637 5:112108965-112108965 5:112773268-112773268 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.423-1547G>C SNV other 82901 rs1816769 5:112109779-112109779 5:112774082-112774082 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.423-1515A>G SNV other 82902 rs76748553 5:112109811-112109811 5:112774114-112774114 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.423-1514T>A SNV other 82903 rs78800922 5:112109812-112109812 5:112774115-112774115 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.423-1511C>A SNV other 82904 rs79435359 5:112109815-112109815 5:112774118-112774118 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.423-686G>T SNV other 82905 rs77983750 5:112110640-112110640 5:112774943-112774943 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.423-680G>A SNV other 82906 rs79045800 5:112110646-112110646 5:112774949-112774949 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.423-666G>A SNV other 82907 rs74639338 5:112110660-112110660 5:112774963-112774963 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.423-455G>T SNV other 82908 rs75999963 5:112110871-112110871 5:112775174-112775174 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.423-454G>T SNV other 82909 rs79829853 5:112110872-112110872 5:112775175-112775175 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.423-256G>A SNV other 82910 rs392179 5:112111070-112111070 5:112775373-112775373 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.531+29G>T SNV other 82912 rs74471574 5:112111463-112111463 5:112775766-112775766 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.531+136G>T SNV other 82913 rs74579590 5:112111570-112111570 5:112775873-112775873 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.531+171G>T SNV other 82914 rs75279497 5:112111605-112111605 5:112775908-112775908 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.531+432G>C SNV other 82915 rs458906 5:112111866-112111866 5:112776169-112776169 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.531+1125T>A SNV other 82916 rs75454866 5:112112559-112112559 5:112776862-112776862 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.531+1313C>G SNV other 82917 rs76382224 5:112112747-112112747 5:112777050-112777050 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.531+1317A>T SNV other 82918 rs80287587 5:112112751-112112751 5:112777054-112777054 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.531+1340C>T SNV other 82919 rs77722471 5:112112774-112112774 5:112777077-112777077 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.531+1421G>A SNV other 82920 rs7707339 5:112112855-112112855 5:112777158-112777158 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.531+1477G>T SNV other 82921 rs79528641 5:112112911-112112911 5:112777214-112777214 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.531+1517T>C SNV other 82922 rs77941389 5:112112951-112112951 5:112777254-112777254 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.531+1768C>A SNV other 82923 rs76977570 5:112113202-112113202 5:112777505-112777505 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.531+2093A>T SNV other 82924 rs467033 5:112113527-112113527 5:112777830-112777830 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.531+2301C>T SNV other 82925 rs396321 5:112113735-112113735 5:112778038-112778038 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.531+2326T>C SNV other 82926 rs401908 5:112113760-112113760 5:112778063-112778063 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.531+2338G>A SNV other 82927 rs414098 5:112113772-112113772 5:112778075-112778075 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.532-2420C>G SNV other 82928 rs75246712 5:112114067-112114067 5:112778370-112778370 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.532-2307G>A SNV other 82929 rs78706182 5:112114180-112114180 5:112778483-112778483 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.532-1966T>G SNV other 82930 rs75882432 5:112114521-112114521 5:112778824-112778824 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.532-1772G>T SNV other 82931 rs80135229 5:112114715-112114715 5:112779018-112779018 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.532-1128G>T SNV other 82932 rs77627110 5:112115359-112115359 5:112779662-112779662 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.532-1110G>T SNV other 82933 rs78370128 5:112115377-112115377 5:112779680-112779680 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.532-463C>T SNV other 82934 rs62364017 5:112116024-112116024 5:112780327-112780327 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.532-418G>A SNV other 82935 rs35130225 5:112116069-112116069 5:112780372-112780372 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+116G>T SNV other 82936 rs77820839 5:112116716-112116716 5:112781019-112781019 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1958+235A>G SNV other 83213 rs6899169 5:112171097-112171097 5:112835400-112835400 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1958+378C>A SNV other 83214 rs80253473 5:112171240-112171240 5:112835543-112835543 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1958+388C>T SNV other 83215 rs74735048 5:112171250-112171250 5:112835553-112835553 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1958+392G>T SNV other 83216 rs79726949 5:112171254-112171254 5:112835557-112835557 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1958+689T>G SNV other 83217 rs77211497 5:112171551-112171551 5:112835854-112835854 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1958+707C>A SNV other 83218 rs78477258 5:112171569-112171569 5:112835872-112835872 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1958+729C>A SNV other 83219 rs79086002 5:112171591-112171591 5:112835894-112835894 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1958+730T>A SNV other 83220 rs77534058 5:112171592-112171592 5:112835895-112835895 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1958+826C>A SNV other 83221 rs78421859 5:112171688-112171688 5:112835991-112835991 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1958+829C>A SNV other 83222 rs76537265 5:112171691-112171691 5:112835994-112835994 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1958+860T>C SNV other 83223 rs79031187 5:112171722-112171722 5:112836025-112836025 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1958+861T>C SNV other 83224 rs77626458 5:112171723-112171723 5:112836026-112836026 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1958+1015G>A SNV other 83225 rs2545154 5:112171877-112171877 5:112836180-112836180 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1959-1031G>A SNV other 83226 rs411356 5:112172219-112172219 5:112836522-112836522 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1959-571T>G SNV other 83227 rs75824617 5:112172679-112172679 5:112836982-112836982 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1959-464G>T SNV other 83228 rs1966477 5:112172786-112172786 5:112837089-112837089 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1959-320T>C SNV other 83229 rs1966476 5:112172930-112172930 5:112837233-112837233 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1959-145T>A SNV other 83230 rs74571271 5:112173105-112173105 5:112837408-112837408 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1959-144T>A SNV other 83231 rs75266200 5:112173106-112173106 5:112837409-112837409 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1959-139C>A SNV other 83232 rs78611569 5:112173111-112173111 5:112837414-112837414 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1959-138A>G SNV other 83233 rs76565799 5:112173112-112173112 5:112837415-112837415 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.135+2703G>C SNV other 88624 rs76641316 5:112093425-112093425 5:112757728-112757728 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.135+3233A>G SNV other 88625 rs369952 5:112093955-112093955 5:112758258-112758258 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.2386T>G (p.Tyr796Asp) SNV other 83235 rs77985571 5:112173677-112173677 5:112837980-112837980 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.2404G>T (p.Asp802Tyr) SNV other 83236 rs79853077 5:112173695-112173695 5:112837998-112837998 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.2509T>G (p.Ser837Ala) SNV other 83237 rs79634147 5:112173800-112173800 5:112838103-112838103 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.2510C>A (p.Ser837Ter) SNV other 83238 rs79512956 5:112173801-112173801 5:112838104-112838104 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.2511A>G (p.Ser837=) SNV other 83239 rs79909810 5:112173802-112173802 5:112838105-112838105 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.2920G>T (p.Gly974Cys) SNV other 83240 rs74561014 5:112174211-112174211 5:112838514-112838514 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.3730C>A (p.Gln1244Lys) SNV other 83241 rs79122263 5:112175021-112175021 5:112839324-112839324 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.3766C>A (p.Gln1256Lys) SNV other 83242 rs77056664 5:112175057-112175057 5:112839360-112839360 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.5374A>C (p.Asn1792His) SNV other 83243 rs74853403 5:112176665-112176665 5:112840968-112840968 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.5376T>A (p.Asn1792Lys) SNV other 83244 rs76364845 5:112176667-112176667 5:112840970-112840970 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.5515G>T (p.Ala1839Ser) SNV other 83245 rs75236689 5:112176806-112176806 5:112841109-112841109 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.5521G>T (p.Asp1841Tyr) SNV other 83246 rs76306073 5:112176812-112176812 5:112841115-112841115 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.7050C>A (p.Ser2350=) SNV other 83248 rs78556145 5:112178341-112178341 5:112842644-112842644 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.7973G>T (p.Trp2658Leu) SNV other 83249 rs79619757 5:112179264-112179264 5:112843567-112843567 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.8130T>G (p.Ser2710Arg) SNV other 83250 rs78176192 5:112179421-112179421 5:112843724-112843724 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.*134C>A SNV other 83253 rs76439767 5:112179957-112179957 5:112844260-112844260 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.*135T>G SNV other 83254 rs79414727 5:112179958-112179958 5:112844261-112844261 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.*137G>A SNV other 83255 rs75440329 5:112179960-112179960 5:112844263-112844263 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.*467A>G SNV other 83258 rs74503138 5:112180290-112180290 5:112844593-112844593 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.*805C>A SNV other 83259 rs75717494 5:112180628-112180628 5:112844931-112844931 CLR023 Colorectal Cancer FLCN NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter) SNV Pathogenic 253251 rs879255678 17:17118502-17118502 17:17215188-17215188 CLR023 Colorectal Cancer CTNNB1 NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter) SNV Pathogenic 265443 rs775104326 3:41266486-41266486 3:41224995-41224995 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.562C>T (p.Gln188Ter) SNV Pathogenic 224515 rs869312753 5:112116517-112116517 5:112780820-112780820 CLR023 Colorectal Cancer BRCA2 NM_000059.4(BRCA2):c.4963del (p.Tyr1655fs) deletion Pathogenic 221620 rs886040557 13:32913454-32913454 13:32339317-32339317 CLR023 Colorectal Cancer APC chr5:112154359-112155228 complex variant complex Pathogenic 224516 5:112154359-112155228 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.646C>T (p.Arg216Ter) SNV Pathogenic 127312 rs62619935 5:112128143-112128143 5:112792446-112792446 CLR023 Colorectal Cancer MUTYH NM_001128425.1(MUTYH):c.55C>T (p.Arg19Ter) SNV Pathogenic 127845 rs587780088 1:45800165-45800165 1:45334493-45334493 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.637C>T (p.Arg213Ter) SNV Pathogenic 140952 rs587781392 5:112116592-112116592 5:112780895-112780895 CLR023 Colorectal Cancer MUTYH NM_001048171.1(MUTYH):c.1172C>T (p.Pro391Leu) SNV Pathogenic 142604 rs529008617 1:45797201-45797201 1:45331529-45331529 CLR023 Colorectal Cancer MUTYH NM_001048171.1(MUTYH):c.697C>T (p.Arg233Ter) SNV Pathogenic 143003 rs587782885 1:45798112-45798112 1:45332440-45332440 CLR023 Colorectal Cancer MUTYH NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter) SNV Pathogenic 156509 rs587783057 1:45797348-45797348 1:45331676-45331676 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.847C>T (p.Arg283Ter) SNV Pathogenic 184999 rs786201856 5:112151204-112151204 5:112815507-112815507 CLR023 Colorectal Cancer FGFR3 NM_001163213.1(FGFR3):c.1955A>C (p.Lys652Thr) SNV Pathogenic 65855 rs121913105 4:1807890-1807890 4:1806163-1806163 CLR023 Colorectal Cancer MLH1 NM_001167618.2(MLH1):c.-221dup duplication Pathogenic 90250 rs63749959 3:37050348-37050349 3:37008857-37008858 CLR023 Colorectal Cancer MLH1 NM_000249.3(MLH1):c.887T>G (p.Leu296Ter) SNV Pathogenic 90430 rs63750547 3:37061803-37061803 3:37020312-37020312 CLR023 Colorectal Cancer MSH2 NM_000251.2(MSH2):c.1457_1460delATGA short repeat Pathogenic 90670 rs1114167806 2:47690235-47690238 2:47463096-47463099 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.694C>T (p.Arg232Ter) SNV Pathogenic 42248 rs397515734 5:112128191-112128191 5:112792494-112792494 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.190G>T (p.Gly64Ter) SNV Pathogenic 82875 rs79323615 5:112102077-112102077 5:112766380-112766380 CLR023 Colorectal Cancer MLH1 NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) SNV Pathogenic 29654 rs63751194 3:37058999-37058999 3:37017508-37017508 CLR023 Colorectal Cancer BRCA2 NM_000059.3(BRCA2):c.6462_6463TC[3] (p.Gln2157fs) short repeat Pathogenic 38047 rs80359596 13:32914954-32914955 13:32340817-32340818 CLR023 Colorectal Cancer PIK3CA NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) SNV Pathogenic 39705 rs121913281 3:178952084-178952084 3:179234296-179234296 CLR023 Colorectal Cancer PIK3CA NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) SNV Pathogenic 13655 rs104886003 3:178936091-178936091 3:179218303-179218303 CLR023 Colorectal Cancer TP53 NM_000546.6(TP53):c.818G>A (p.Arg273His) SNV Pathogenic 12366 rs28934576 17:7577120-7577120 17:7673802-7673802 CLR023 Colorectal Cancer TP53 NM_000546.6(TP53):c.524G>A (p.Arg175His) SNV Pathogenic 12374 rs28934578 17:7578406-7578406 17:7675088-7675088 CLR023 Colorectal Cancer PLA2G2A NM_000300.4(PLA2G2A):c.142_143TG[1] (p.Cys48fs) short repeat Pathogenic 13635 rs587776800 1:20304913-20304914 1:19978420-19978421 CLR023 Colorectal Cancer PIK3CA NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) SNV Pathogenic 13652 rs121913279 3:178952085-178952085 3:179234297-179234297 CLR023 Colorectal Cancer DCC NM_005215.4(DCC):c.4124C>A (p.Pro1375His) SNV Pathogenic 17074 rs387906555 18:51052999-51052999 18:53526629-53526629 CLR023 Colorectal Cancer COX1 m.6277G>A SNV Pathogenic 9672 rs281865417 MT:6277-6277 MT:6277-6277 CLR023 Colorectal Cancer CYTB m.15572T>C SNV Pathogenic 9677 rs207459996 MT:15572-15572 MT:15572-15572 CLR023 Colorectal Cancer ND4L m.10563T>C SNV Pathogenic 9706 rs267606892 MT:10563-10563 MT:10563-10563 CLR023 Colorectal Cancer TP53 NM_000546.6(TP53):c.743G>A (p.Arg248Gln) SNV Pathogenic 12356 rs11540652 17:7577538-7577538 17:7674220-7674220 CLR023 Colorectal Cancer BRAF NM_001374258.1(BRAF):c.1919T>A (p.Val640Glu) SNV Pathogenic,drug response 13961 rs113488022 7:140453136-140453136 7:140753336-140753336 CLR023 Colorectal Cancer BRAF NM_004333.6(BRAF):c.1385G>T (p.Arg462Ile) SNV Pathogenic 13962 rs180177032 7:140481423-140481423 7:140781623-140781623 CLR023 Colorectal Cancer BRAF NM_004333.6(BRAF):c.1388T>G (p.Ile463Ser) SNV Pathogenic 13963 rs180177033 7:140481420-140481420 7:140781620-140781620 CLR023 Colorectal Cancer BRAF NM_001374258.1(BRAF):c.1511G>A (p.Gly504Glu) SNV Pathogenic 13964 rs121913348 7:140481417-140481417 7:140781617-140781617 CLR023 Colorectal Cancer BRAF NM_001374258.1(BRAF):c.1921A>G (p.Lys641Glu) SNV Pathogenic 13966 rs121913364 7:140453134-140453134 7:140753334-140753334 CLR023 Colorectal Cancer MCC NM_001085377.2(MCC):c.2663C>T (p.Ala888Val) SNV Pathogenic 14202 rs121917731 5:112379320-112379320 5:113043623-113043623 CLR023 Colorectal Cancer MCC NM_001085377.2(MCC):c.2087G>A (p.Arg696Gln) SNV Pathogenic 14203 rs121917732 5:112399807-112399807 5:113064110-113064110 CLR023 Colorectal Cancer FGFR3 NM_001163213.1(FGFR3):c.742C>T (p.Arg248Cys) SNV Pathogenic 16332 rs121913482 4:1803564-1803564 4:1801837-1801837 CLR023 Colorectal Cancer FGFR3 NM_001163213.1(FGFR3):c.1626C>G (p.Asn542Lys) SNV Pathogenic 16338 rs28933068 4:1807371-1807371 4:1805644-1805644 CLR023 Colorectal Cancer FGFR3 NM_001163213.1(FGFR3):c.746C>G (p.Ser249Cys) SNV Pathogenic 16339 rs121913483 4:1803568-1803568 4:1801841-1801841 CLR023 Colorectal Cancer FGFR3 NM_001163213.1(FGFR3):c.1082-605G>A SNV Pathogenic 16351 rs121913111 4:1805452-1805452 4:1803725-1803725 CLR023 Colorectal Cancer FGFR3 NM_001163213.1(FGFR3):c.850del (p.His284fs) deletion Pathogenic 16352 rs587776836 4:1803669-1803669 4:1801942-1801942 CLR023 Colorectal Cancer MLH1 NM_000249.3(MLH1):c.806C>G (p.Ser269Ter) SNV Pathogenic 17098 rs63750691 3:37059012-37059012 3:37017521-37017521 CLR023 Colorectal Cancer CTNNB1 NM_001904.4(CTNNB1):c.133_135del (p.Ser45del) deletion Pathogenic 17576 rs587776850 3:41266136-41266138 3:41224643-41224645 CLR023 Colorectal Cancer MSH2 NM_000251.3(MSH2):c.2635-24A>G SNV Pathogenic 873427 2:47709894-47709894 2:47482755-47482755 CLR023 Colorectal Cancer MLH1 NM_000249.4(MLH1):c.1732-264A>T SNV Pathogenic 873426 3:37088746-37088746 3:37047255-37047255 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.904C>T (p.Arg302Ter) SNV Pathogenic 798 rs137854568 5:112151261-112151261 5:112815564-112815564 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.4012C>T (p.Gln1338Ter) SNV Pathogenic 801 rs121913327 5:112175303-112175303 5:112839606-112839606 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1660C>T (p.Arg554Ter) SNV Pathogenic 807 rs137854573 5:112164586-112164586 5:112828889-112828889 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) SNV Pathogenic 810 rs137854575 5:112174096-112174096 5:112838399-112838399 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.4385_4386AG[4] (p.Ser1465fs) short repeat Pathogenic 811 rs387906234 5:112175676-112175677 5:112839979-112839980 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.3922_3926AAAGA[1] (p.Glu1309fs) short repeat Pathogenic 816 rs121913224 5:112175212-112175216 5:112839515-112839519 CLR023 Colorectal Cancer MSH2 NM_000251.2(MSH2):c.1216C>T (p.Arg406Ter) SNV Pathogenic 1755 rs63751108 2:47657020-47657020 2:47429881-47429881 CLR023 Colorectal Cancer PPARG NM_001330615.1(PPARG):c.735+10744A>C SNV Pathogenic 8133 rs121909242 3:12458324-12458324 3:12416825-12416825 CLR023 Colorectal Cancer BAX NM_138761.4(BAX):c.121del (p.Glu41fs) deletion Pathogenic 9512 rs398122840 19:49458971-49458971 19:48955714-48955714 CLR023 Colorectal Cancer FLCN NM_144997.7(FLCN):c.236C>G (p.Ser79Trp) SNV Pathogenic 3369 rs137852930 17:17131216-17131216 17:17227902-17227902 CLR023 Colorectal Cancer MUTYH NM_001048171.1(MUTYH):c.270C>A (p.Tyr90Ter) SNV Pathogenic 5296 rs121908380 1:45799121-45799121 1:45333449-45333449 CLR023 Colorectal Cancer PDGFRL NM_006207.2(PDGFRL):c.67C>T (p.His23Tyr) SNV Pathogenic 5468 rs137853148 8:17446988-17446988 8:17589479-17589479 CLR023 Colorectal Cancer MLH3 NM_014381.3(MLH3):c.2482G>T (p.Glu828Ter) SNV Pathogenic 5557 rs587776622 14:75513877-75513877 14:75047174-75047174 CLR023 Colorectal Cancer RAD54B NM_012415.3(RAD54B):c.1252G>T (p.Asp418Tyr) SNV Pathogenic 5639 rs119490107 8:95411768-95411768 8:94399540-94399540 CLR023 Colorectal Cancer DLC1 NM_182643.3(DLC1):c.2875A>G (p.Thr959Ala) SNV Pathogenic 5699 rs121908500 8:12956971-12956971 8:13099462-13099462 CLR023 Colorectal Cancer AXIN2 NM_004655.4(AXIN2):c.2116G>T (p.Glu706Ter) SNV Pathogenic 5879 rs121908567 17:63532463-63532463 17:65536345-65536345 CLR023 Colorectal Cancer AXIN2 NM_004655.4(AXIN2):c.1994del (p.Gly665fs) deletion Pathogenic 5880 rs267606674 17:63532585-63532585 17:65536467-65536467 CLR023 Colorectal Cancer BCL10 NM_003921.5(BCL10):c.136dup (p.Ile46fs) duplication Pathogenic 6259 rs387906351 1:85736510-85736511 1:85270827-85270828 CLR023 Colorectal Cancer BUB1 NM_004336.5(BUB1):c.3069del (p.His1024fs) deletion Pathogenic 6759 rs587776642 2:111395730-111395730 2:110638153-110638153 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.1738C>T (p.Arg580Ter) SNV Pathogenic 6880 rs137853038 22:41533772-41533772 22:41137768-41137768 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.6662C>A (p.Pro2221Gln) SNV Pathogenic 6881 rs28937578 22:41574377-41574377 22:41178373-41178373 CLR023 Colorectal Cancer BUB1 NM_004336.5(BUB1):c.422+1G>A SNV Pathogenic 7082 rs794729661 2:111430237-111430237 2:110672660-110672660 CLR023 Colorectal Cancer BUB1 NM_004336.5(BUB1):c.1475C>A (p.Ser492Tyr) SNV Pathogenic 7083 rs121909055 2:111416028-111416028 2:110658451-110658451 CLR023 Colorectal Cancer PPARG NM_005037.5(PPARG):c.472del (p.Ser158fs) deletion Pathogenic 8132 rs587776687 3:12434182-12434182 3:12392683-12392683 CLR023 Colorectal Cancer PPARG NM_001330615.1(PPARG):c.735+10842A>T SNV Pathogenic 8134 rs121909243 3:12458422-12458422 3:12416923-12416923 CLR023 Colorectal Cancer PPARG NM_001330615.1(PPARG):c.735+10750G>A SNV Pathogenic 8135 rs28936407 3:12458330-12458330 3:12416831-12416831 CLR023 Colorectal Cancer PTPRJ NM_002843.4(PTPRJ):c.640C>T (p.Arg214Cys) SNV Pathogenic 8689 rs121434507 11:48145188-48145188 11:48123636-48123636 CLR023 Colorectal Cancer PTPRJ NM_002843.4(PTPRJ):c.827A>C (p.Gln276Pro) SNV Pathogenic 8690 rs1566734 11:48145375-48145375 11:48123823-48123823 CLR023 Colorectal Cancer PTPN12 NM_002835.4(PTPN12):c.182A>G (p.Lys61Arg) SNV Pathogenic 9448 rs121434623 7:77200477-77200477 7:77571160-77571160 CLR023 Colorectal Cancer BAX NM_138761.4(BAX):c.121dup (p.Glu41fs) duplication Pathogenic 9511 rs398122840 19:49458970-49458971 19:48955713-48955714 CLR023 Colorectal Cancer COX1 m.7275T>C SNV Pathogenic 9673 rs267606884 MT:7275-7275 MT:7275-7275 CLR023 Colorectal Cancer COX2 m.8009G>A SNV Pathogenic 9659 rs199474826 MT:8009-8009 MT:8009-8009 CLR023 Colorectal Cancer MLH1 NM_000249.3(MLH1):c.1667+1G>A SNV Pathogenic 455398 rs1434898623 3:37081786-37081786 3:37040295-37040295 CLR023 Colorectal Cancer GREM1 NC_000015.9:g.(?_32971947)_(33004759_?)dup duplication Pathogenic 476579 15:32971947-33004759 15:32679746-32712558 CLR023 Colorectal Cancer MLH1 NM_000249.3(MLH1):c.1334_1335AG[1] (p.Ser446fs) short repeat Pathogenic 427760 rs1114167435 3:37067423-37067424 3:37025932-37025933 CLR023 Colorectal Cancer MLH1 NM_001167617.2(MLH1):c.942_943CA[1] (p.Thr315fs) short repeat Pathogenic 433865 rs1553651073 3:37067325-37067326 3:37025834-37025835 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.3867T>A (p.Cys1289Ter) SNV Pathogenic 545962 rs1554085355 5:112175158-112175158 5:112839461-112839461 CLR023 Colorectal Cancer MLH1 NM_001167618.2(MLH1):c.-227dup duplication Pathogenic 560011 rs587779018 3:37050345-37050346 3:37008854-37008855 CLR023 Colorectal Cancer PMS2 NM_000535.7(PMS2):c.1053del (p.Leu351fs) deletion Pathogenic 560019 rs1554298756 7:6029522-6029522 7:5989891-5989891 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.4585C>T (p.Arg1529Ter) SNV Pathogenic 574856 rs1569118537 22:41568635-41568635 22:41172631-41172631 CLR023 Colorectal Cancer AXIN2 NM_004655.4(AXIN2):c.1460_1472dup (p.Pro494fs) duplication Pathogenic 599333 rs1567755946 17:63533681-63533682 17:65537563-65537564 CLR023 Colorectal Cancer MLH1 deletion Pathogenic 635950 3:37035001-37041000 CLR023 Colorectal Cancer MSH2 NM_000251.3(MSH2):c.2382del (p.Pro795fs) deletion Pathogenic 637008 2:47705582-47705582 2:47478443-47478443 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.2983G>T (p.Glu995Ter) SNV Pathogenic 538873 rs1555909666 22:41548002-41548002 22:41151998-41151998 CLR023 Colorectal Cancer EP300 NC_000022.11:g.(?_41154975)_(41164150_?)del deletion Pathogenic 655763 22:41550979-41560154 22:41154975-41164150 CLR023 Colorectal Cancer GREM1 NC_000015.10:g.(?_32679746)_(32702555_?)dup duplication Pathogenic 832500 15:32971947-32994756 CLR023 Colorectal Cancer GREM1 NC_000015.10:g.(?_32679746)_(32712736_?)dup duplication Pathogenic 832797 15:32971947-33004937 CLR023 Colorectal Cancer EP300 NC_000022.11:g.(?_41131368)_(41140277_?)del deletion Pathogenic 832045 22:41527372-41536281 CLR023 Colorectal Cancer EP300 NC_000022.11:g.(?_41151813)_(41152370_?)del deletion Pathogenic 831260 22:41547817-41548374 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.584C>A (p.Ser195Ter) SNV Pathogenic 861851 22:41513680-41513680 22:41117676-41117676 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.4066C>T (p.Arg1356Ter) SNV Pathogenic 842871 22:41564765-41564765 22:41168761-41168761 CLR023 Colorectal Cancer TP53 NM_001126112.2(TP53):c.559+1G>A SNV Pathogenic/Likely pathogenic 428908 rs1131691042 17:7578370-7578370 17:7675052-7675052 CLR023 Colorectal Cancer NFE2L2 NM_006164.5(NFE2L2):c.91G>A (p.Gly31Arg) SNV Pathogenic/Likely pathogenic 445150 rs1553488015 2:178098954-178098954 2:177234226-177234226 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.4763T>C (p.Met1588Thr) SNV Pathogenic/Likely pathogenic 383803 rs1057521737 22:41569772-41569772 22:41173768-41173768 CLR023 Colorectal Cancer TP53 NM_001126112.2(TP53):c.96+1G>T SNV Pathogenic/Likely pathogenic 482212 rs1131691003 17:7579699-7579699 17:7676381-7676381 CLR023 Colorectal Cancer CTNNB1 NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr) SNV Pathogenic/Likely pathogenic 17577 rs121913400 3:41266101-41266101 3:41224610-41224610 CLR023 Colorectal Cancer FGFR3 NM_001163213.1(FGFR3):c.749C>G (p.Pro250Arg) SNV Pathogenic/Likely pathogenic 16340 rs4647924 4:1803571-1803571 4:1801844-1801844 CLR023 Colorectal Cancer MUTYH NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) SNV Pathogenic/Likely pathogenic 5293 rs34612342 1:45798475-45798475 1:45332803-45332803 CLR023 Colorectal Cancer MUTYH NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) SNV Pathogenic/Likely pathogenic 5294 rs36053993 1:45797228-45797228 1:45331556-45331556 CLR023 Colorectal Cancer PIK3CA NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly) SNV Pathogenic/Likely pathogenic 13656 rs121913274 3:178936092-178936092 3:179218304-179218304 CLR023 Colorectal Cancer PIK3CA NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) SNV Pathogenic/Likely pathogenic 13657 rs121913286 3:178936094-178936094 3:179218306-179218306 CLR023 Colorectal Cancer MUTYH NM_012222.2(MUTYH):c.724C>T (p.Arg242Cys) SNV Pathogenic/Likely pathogenic 41761 rs200495564 1:45798118-45798118 1:45332446-45332446 CLR023 Colorectal Cancer NRAS NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) SNV Pathogenic/Likely pathogenic 13899 rs121434595 1:115258745-115258745 1:114716124-114716124 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.70C>T (p.Arg24Ter) SNV Pathogenic/Likely pathogenic 184702 rs145945630 5:112090657-112090657 5:112754960-112754960 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1312+3A>G SNV Pathogenic/Likely pathogenic 217924 rs863225311 5:112155044-112155044 5:112819347-112819347 CLR023 Colorectal Cancer TP53 NM_001126112.2(TP53):c.799C>T (p.Arg267Trp) SNV Pathogenic/Likely pathogenic 141764 rs55832599 17:7577139-7577139 17:7673821-7673821 CLR023 Colorectal Cancer MUTYH NM_001048174.2(MUTYH):c.1103-2A>G SNV Pathogenic/Likely pathogenic 141282 rs587781628 1:45797230-45797230 1:45331558-45331558 CLR023 Colorectal Cancer MUTYH NM_012222.2(MUTYH):c.1218_1219dup (p.Glu407fs) duplication Pathogenic/Likely pathogenic 127831 rs587780078 1:45797186-45797187 1:45331514-45331515 CLR023 Colorectal Cancer MUTYH NM_012222.2(MUTYH):c.1138del (p.Ala382fs) deletion Pathogenic/Likely pathogenic 134860 rs587778536 1:45797372-45797372 1:45331700-45331700 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.933+1G>A SNV Pathogenic/Likely pathogenic 233970 rs876660765 5:112151291-112151291 5:112815594-112815594 CLR023 Colorectal Cancer BRIP1 NM_032043.2(BRIP1):c.1702_1703del (p.Asn568fs) deletion Pathogenic/Likely pathogenic 221621 rs1057519365 17:59858292-59858293 17:61780931-61780932 CLR023 Colorectal Cancer FLCN NM_144997.7(FLCN):c.779+1G>T SNV Pathogenic/Likely pathogenic 231274 rs758175953 17:17125814-17125814 17:17222500-17222500 CLR023 Colorectal Cancer FANCC NM_000136.3(FANCC):c.595dup (p.Leu199fs) duplication Likely pathogenic 221622 rs1057519366 9:97912295-97912296 9:95150013-95150014 CLR023 Colorectal Cancer BRAF NM_004333.6(BRAF):c.1799_1800delinsAA (p.Val600Glu) indel Likely pathogenic 376069 rs121913377 7:140453135-140453136 7:140753335-140753336 CLR023 Colorectal Cancer ERBB3 NM_001982.3(ERBB3):c.850G>A (p.Gly284Arg) SNV Likely pathogenic 376167 rs1057519803 12:56481922-56481922 12:56088138-56088138 CLR023 Colorectal Cancer REV3L NM_002912.4(REV3L):c.559A>T (p.Arg187Trp) SNV Likely pathogenic 221624 rs1057519367 6:111726679-111726679 6:111405476-111405476 CLR023 Colorectal Cancer CCND1 NM_053056.2(CCND1):c.723G>A (p.Pro241=) SNV risk factor 13755 rs9344 11:69462910-69462910 11:69648142-69648142 CLR023 Colorectal Cancer AURKA NM_198433.3(AURKA):c.91T>A (p.Phe31Ile) SNV risk factor 6642 rs2273535 20:54961541-54961541 20:56386485-56386485 CLR023 Colorectal Cancer TLR2 TLR2, GT(n) REPEAT POLYMORPHISM, IVS2 undetermined variant risk factor 6664 CLR023 Colorectal Cancer CHEK2 NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) SNV risk factor 5591 rs17879961 22:29121087-29121087 22:28725099-28725099 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) SNV risk factor 822 rs1801155 5:112175211-112175211 5:112839514-112839514 CLR023 Colorectal Cancer CHEK2 NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) SNV Conflicting interpretations of pathogenicity 5603 rs137853011 22:29091207-29091207 22:28695219-28695219 CLR023 Colorectal Cancer FLCN NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) SNV Conflicting interpretations of pathogenicity 3370 rs41419545 17:17118598-17118598 17:17215284-17215284 CLR023 Colorectal Cancer TGFBR2 NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) SNV Conflicting interpretations of pathogenicity 12502 rs34833812 3:30713619-30713619 3:30672127-30672127 CLR023 Colorectal Cancer TP53 NM_001126112.2(TP53):c.566C>T (p.Ala189Val) SNV Conflicting interpretations of pathogenicity 12382 rs121912665 17:7578283-7578283 17:7674965-7674965 CLR023 Colorectal Cancer FLT4 NM_182925.5(FLT4):c.2860C>T (p.Pro954Ser) SNV Conflicting interpretations of pathogenicity 16264 rs34255532 5:180045911-180045911 5:180618911-180618911 CLR023 Colorectal Cancer FGFR3 NM_001163213.1(FGFR3):c.1144G>A (p.Gly382Arg) SNV Conflicting interpretations of pathogenicity 16327 rs28931614 4:1806119-1806119 4:1804392-1804392 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) SNV Conflicting interpretations of pathogenicity 41510 rs201375478 5:112178015-112178015 5:112842318-112842318 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) SNV Conflicting interpretations of pathogenicity 41512 rs200756935 5:112178327-112178327 5:112842630-112842630 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.2204C>T (p.Ala735Val) SNV Conflicting interpretations of pathogenicity 41521 rs147655929 5:112173495-112173495 5:112837798-112837798 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.4372C>T (p.Pro1458Ser) SNV Conflicting interpretations of pathogenicity 41530 rs143796828 5:112175663-112175663 5:112839966-112839966 CLR023 Colorectal Cancer MUTYH NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) SNV Conflicting interpretations of pathogenicity 41753 rs150792276 1:45797139-45797139 1:45331467-45331467 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.-204A>G SNV Conflicting interpretations of pathogenicity 469859 rs554351451 5:112043211-112043211 5:112707514-112707514 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.-128G>C SNV Conflicting interpretations of pathogenicity 469828 rs543098847 5:112043287-112043287 5:112707590-112707590 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.323G>A (p.Gly108Glu) SNV Conflicting interpretations of pathogenicity 427929 rs1114167456 5:112102988-112102988 5:112767291-112767291 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.1645T>C (p.Ser549Pro) SNV Conflicting interpretations of pathogenicity 405774 rs115558715 12:133249254-133249254 12:132672668-132672668 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.1534G>A (p.Ala512Thr) SNV Conflicting interpretations of pathogenicity 405691 rs113998091 12:133249365-133249365 12:132672779-132672779 CLR023 Colorectal Cancer POLD1 NM_002691.4(POLD1):c.589A>C (p.Ser197Arg) SNV Conflicting interpretations of pathogenicity 537130 rs1040524947 19:50905381-50905381 19:50402124-50402124 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.1572G>A (p.Thr524=) SNV Conflicting interpretations of pathogenicity 502213 rs746398873 22:41531860-41531860 22:41135856-41135856 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.6315C>T (p.Gly2105=) SNV Conflicting interpretations of pathogenicity 502214 rs528866215 22:41574030-41574030 22:41178026-41178026 CLR023 Colorectal Cancer MSH6 NM_000179.3(MSH6):c.2561A>T (p.Lys854Met) SNV Conflicting interpretations of pathogenicity 89289 rs34374438 2:48027683-48027683 2:47800544-47800544 CLR023 Colorectal Cancer FANCE NM_021922.2(FANCE):c.598C>T (p.Arg200Cys) SNV Conflicting interpretations of pathogenicity 221623 rs763151358 6:35423873-35423873 6:35456096-35456096 CLR023 Colorectal Cancer POLD1 NM_002691.4(POLD1):c.961G>A (p.Gly321Ser) SNV Conflicting interpretations of pathogenicity 221136 rs41554817 19:50905989-50905989 19:50402732-50402732 CLR023 Colorectal Cancer CHEK2 NM_007194.4(CHEK2):c.15G>A (p.Ser5=) SNV Conflicting interpretations of pathogenicity 220067 rs145183886 22:29130695-29130695 22:28734707-28734707 CLR023 Colorectal Cancer PALB2 NM_024675.3(PALB2):c.226A>G (p.Ile76Val) SNV Conflicting interpretations of pathogenicity 220168 rs541028076 16:23647641-23647641 16:23636320-23636320 CLR023 Colorectal Cancer PALB2 NM_024675.3(PALB2):c.2360C>T (p.Thr787Ile) SNV Conflicting interpretations of pathogenicity 216745 rs201042302 16:23641115-23641115 16:23629794-23629794 CLR023 Colorectal Cancer POLE NM_006231.3(POLE):c.16G>C (p.Gly6Arg) SNV Conflicting interpretations of pathogenicity 218680 rs202220778 12:133263886-133263886 12:132687300-132687300 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.3046G>A (p.Val1016Met) SNV Conflicting interpretations of pathogenicity 220916 rs147692158 12:133237569-133237569 12:132660983-132660983 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.3105C>T (p.Thr1035=) SNV Conflicting interpretations of pathogenicity 210939 rs150498069 22:41548317-41548317 22:41152313-41152313 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1606G>A (p.Glu536Lys) SNV Conflicting interpretations of pathogenicity 216151 rs138098808 5:112163683-112163683 5:112827986-112827986 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.1337G>A (p.Arg446Gln) SNV Conflicting interpretations of pathogenicity 221066 rs151273553 12:133250183-133250183 12:132673597-132673597 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.861T>A (p.Asp287Glu) SNV Conflicting interpretations of pathogenicity 221000 rs139075637 12:133253180-133253180 12:132676594-132676594 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.5912C>G (p.Ser1971Cys) SNV Conflicting interpretations of pathogenicity 187282 rs754691867 5:112177203-112177203 5:112841506-112841506 CLR023 Colorectal Cancer PALB2 NM_024675.3(PALB2):c.829G>A (p.Asp277Asn) SNV Conflicting interpretations of pathogenicity 186811 rs778309339 16:23647038-23647038 16:23635717-23635717 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.3591-6C>T SNV Conflicting interpretations of pathogenicity 195474 rs368437789 22:41556640-41556640 22:41160636-41160636 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.295C>T (p.Arg99Trp) SNV Conflicting interpretations of pathogenicity 135695 rs139196838 5:112102960-112102960 5:112767263-112767263 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) SNV Conflicting interpretations of pathogenicity 135709 rs587780600 5:112177092-112177092 5:112841395-112841395 CLR023 Colorectal Cancer MUTYH NM_001048174.2(MUTYH):c.849+3A>C SNV Conflicting interpretations of pathogenicity 135992 rs587780751 1:45797835-45797835 1:45332163-45332163 CLR023 Colorectal Cancer CHEK2 NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) SNV Conflicting interpretations of pathogenicity 128059 rs540635787 22:29090061-29090061 22:28694073-28694073 CLR023 Colorectal Cancer CHEK2 NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) SNV Conflicting interpretations of pathogenicity 128060 rs142763740 22:29090054-29090054 22:28694066-28694066 CLR023 Colorectal Cancer BUB1B NM_001211.5(BUB1B):c.805A>G (p.Asn269Asp) SNV Conflicting interpretations of pathogenicity 133777 rs148159407 15:40477419-40477419 15:40185218-40185218 CLR023 Colorectal Cancer BUB1B NM_001211.5(BUB1B):c.1001C>T (p.Pro334Leu) SNV Conflicting interpretations of pathogenicity 133779 rs141953425 15:40477786-40477786 15:40185585-40185585 CLR023 Colorectal Cancer AXIN2 NM_004655.4(AXIN2):c.1168A>G (p.Ser390Gly) SNV Conflicting interpretations of pathogenicity 127934 rs139871607 17:63534353-63534353 17:65538235-65538235 CLR023 Colorectal Cancer AXIN2 NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr) SNV Conflicting interpretations of pathogenicity 127943 rs145007501 17:63530163-63530163 17:65534045-65534045 CLR023 Colorectal Cancer XRCC2 NM_005431.2(XRCC2):c.620A>G (p.Glu207Gly) SNV Conflicting interpretations of pathogenicity 127960 rs61762969 7:152345950-152345950 7:152648865-152648865 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) SNV Conflicting interpretations of pathogenicity 127318 rs372305287 5:112178690-112178690 5:112842993-112842993 CLR023 Colorectal Cancer TP53 NM_001126112.2(TP53):c.466C>T (p.Arg156Cys) SNV Conflicting interpretations of pathogenicity 127810 rs563378859 17:7578464-7578464 17:7675146-7675146 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.5363G>A (p.Arg1788His) SNV Conflicting interpretations of pathogenicity 92348 rs201472075 5:112176654-112176654 5:112840957-112840957 CLR023 Colorectal Cancer SEMA4A NM_022367.4(SEMA4A):c.1301T>C (p.Met434Thr) SNV Conflicting interpretations of pathogenicity 96033 rs146822426 1:156142783-156142783 1:156172992-156172992 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.3378C>G (p.Ser1126Arg) SNV Conflicting interpretations of pathogenicity 127288 rs149353082 5:112174669-112174669 5:112838972-112838972 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.5026A>G (p.Arg1676Gly) SNV Conflicting interpretations of pathogenicity 127302 rs370560998 5:112176317-112176317 5:112840620-112840620 CLR023 Colorectal Cancer BRCA2 NM_000059.3(BRCA2):c.7759C>T (p.Leu2587Phe) SNV Conflicting interpretations of pathogenicity 141335 rs56335340 13:32932020-32932020 13:32357883-32357883 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.8389A>G (p.Ser2797Gly) SNV Conflicting interpretations of pathogenicity 141436 rs147287751 5:112179680-112179680 5:112843983-112843983 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.6639G>A (p.Met2213Ile) SNV Conflicting interpretations of pathogenicity 141618 rs35540155 5:112177930-112177930 5:112842233-112842233 CLR023 Colorectal Cancer FLCN NM_144997.7(FLCN):c.134C>G (p.Ala45Gly) SNV Conflicting interpretations of pathogenicity 134423 rs556510460 17:17131318-17131318 17:17228004-17228004 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.6679G>T (p.Gly2227Cys) SNV Conflicting interpretations of pathogenicity 142457 rs367905430 5:112177970-112177970 5:112842273-112842273 CLR023 Colorectal Cancer CHEK2 NM_007194.4(CHEK2):c.592+3A>T SNV Conflicting interpretations of pathogenicity 142956 rs587782849 22:29120962-29120962 22:28724974-28724974 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.2019T>C (p.Pro673=) SNV Conflicting interpretations of pathogenicity 158558 rs2230110 22:41537192-41537192 22:41141188-41141188 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.4073C>T (p.Ala1358Val) SNV Conflicting interpretations of pathogenicity 181805 rs730881249 5:112175364-112175364 5:112839667-112839667 CLR023 Colorectal Cancer PALB2 NM_024675.3(PALB2):c.1610C>T (p.Ser537Leu) SNV Conflicting interpretations of pathogenicity 182791 rs142103232 16:23646257-23646257 16:23634936-23634936 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.5061+10G>A SNV Conflicting interpretations of pathogenicity 158565 rs78432056 22:41572542-41572542 22:41176538-41176538 CLR023 Colorectal Cancer TP53 NM_001126112.2(TP53):c.742C>G (p.Arg248Gly) SNV Conflicting interpretations of pathogenicity 376652 rs121912651 17:7577539-7577539 17:7674221-7674221 CLR023 Colorectal Cancer POLD1 NM_002691.4(POLD1):c.17G>A (p.Arg6Gln) SNV Conflicting interpretations of pathogenicity 226047 rs778275831 19:50902125-50902125 19:50398868-50398868 CLR023 Colorectal Cancer POLD1 NM_002691.4(POLD1):c.208G>T (p.Val70Phe) SNV Conflicting interpretations of pathogenicity 225288 rs147911699 19:50902633-50902633 19:50399376-50399376 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.940T>G (p.Ser314Ala) SNV Conflicting interpretations of pathogenicity 224589 rs770403791 12:133252760-133252760 12:132676174-132676174 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.844C>T (p.Pro282Ser) SNV Conflicting interpretations of pathogenicity 224588 rs138207610 12:133253197-133253197 12:132676611-132676611 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg) SNV Conflicting interpretations of pathogenicity 240611 rs367970442 12:133201570-133201570 12:132624984-132624984 CLR023 Colorectal Cancer CHEK2 NM_007194.4(CHEK2):c.1452G>A (p.Pro484=) SNV Conflicting interpretations of pathogenicity 230446 rs749156425 22:29090029-29090029 22:28694041-28694041 CLR023 Colorectal Cancer CHEK2 NM_007194.4(CHEK2):c.417C>T (p.Tyr139=) SNV Conflicting interpretations of pathogenicity 232743 rs200917541 22:29121258-29121258 22:28725270-28725270 CLR023 Colorectal Cancer CHEK2 NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser) SNV Conflicting interpretations of pathogenicity 234002 rs876660788 22:29121340-29121340 22:28725352-28725352 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.757G>A (p.Gly253Ser) SNV Conflicting interpretations of pathogenicity 236647 rs772806807 5:112137003-112137003 5:112801306-112801306 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.2602C>T (p.Leu868=) SNV Conflicting interpretations of pathogenicity 240437 rs115830215 12:133240694-133240694 12:132664108-132664108 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.2171C>T (p.Ala724Val) SNV Conflicting interpretations of pathogenicity 240427 rs61734163 12:133244944-133244944 12:132668358-132668358 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) SNV Conflicting interpretations of pathogenicity 240423 rs36120395 12:133245025-133245025 12:132668439-132668439 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.4523G>A (p.Arg1508His) SNV Conflicting interpretations of pathogenicity 240525 rs142508245 12:133219838-133219838 12:132643252-132643252 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.1288G>A (p.Ala430Thr) SNV Conflicting interpretations of pathogenicity 240386 rs140566004 12:133250232-133250232 12:132673646-132673646 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) SNV Conflicting interpretations of pathogenicity 265355 rs201115064 12:133240613-133240613 12:132664027-132664027 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) deletion Conflicting interpretations of pathogenicity 253313 rs587778256 22:41574341-41574352 22:41178337-41178348 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.139C>T (p.Arg47Trp) SNV Conflicting interpretations of pathogenicity 240391 rs143626223 12:133257789-133257789 12:132681203-132681203 CLR023 Colorectal Cancer POLD1 NM_002691.4(POLD1):c.455C>T (p.Ala152Val) SNV Conflicting interpretations of pathogenicity 239348 rs41563714 19:50905173-50905173 19:50401916-50401916 CLR023 Colorectal Cancer POLD1 NM_002691.4(POLD1):c.2052G>C (p.Gln684His) SNV Conflicting interpretations of pathogenicity 239269 rs144143245 19:50912821-50912821 19:50409564-50409564 CLR023 Colorectal Cancer CHEK2 NM_007194.4(CHEK2):c.1461+12A>G SNV Conflicting interpretations of pathogenicity 341055 rs886057328 22:29090008-29090008 22:28694020-28694020 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.5604G>A (p.Thr1868=) SNV Conflicting interpretations of pathogenicity 341816 rs200795114 22:41573319-41573319 22:41177315-41177315 CLR023 Colorectal Cancer CHEK2 NM_007194.4(CHEK2):c.*59C>T SNV Uncertain significance 341054 rs540410451 22:29083826-29083826 22:28687838-28687838 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.1540A>G (p.Met514Val) SNV Uncertain significance 341788 rs765266179 22:41531828-41531828 22:41135824-41135824 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.6526C>T (p.Pro2176Ser) SNV Uncertain significance 341825 rs779543207 22:41574241-41574241 22:41178237-41178237 CLR023 Colorectal Cancer CHEK2 NM_007194.4(CHEK2):c.-44G>C SNV Uncertain significance 341057 rs886057330 22:29137794-29137794 22:28741806-28741806 CLR023 Colorectal Cancer CHEK2 NM_007194.4(CHEK2):c.-25C>T SNV Uncertain significance 341056 rs886057329 22:29137775-29137775 22:28741787-28741787 CLR023 Colorectal Cancer FLCN NM_144997.7(FLCN):c.1430G>A (p.Arg477Gln) SNV Uncertain significance 322061 rs748878853 17:17118501-17118501 17:17215187-17215187 CLR023 Colorectal Cancer POLD1 NM_002691.4(POLD1):c.3293G>T (p.Arg1098Leu) SNV Uncertain significance 239341 rs878854552 19:50921173-50921173 19:50417916-50417916 CLR023 Colorectal Cancer POLD1 NM_002691.4(POLD1):c.521G>A (p.Arg174Gln) SNV Uncertain significance 239352 rs141976385 19:50905313-50905313 19:50402056-50402056 CLR023 Colorectal Cancer POLD1 NM_002691.4(POLD1):c.1562G>A (p.Arg521Gln) SNV Uncertain significance 239244 rs143076166 19:50910307-50910307 19:50407050-50407050 CLR023 Colorectal Cancer BUB1B NM_001211.5(BUB1B):c.1630C>T (p.Pro544Ser) SNV Uncertain significance 238662 rs138332995 15:40494791-40494791 15:40202590-40202590 CLR023 Colorectal Cancer AXIN2 NM_004655.4(AXIN2):c.2000G>A (p.Ser667Asn) SNV Uncertain significance 240004 rs878854724 17:63532579-63532579 17:65536461-65536461 CLR023 Colorectal Cancer AXIN2 NM_004655.4(AXIN2):c.1708T>G (p.Phe570Val) SNV Uncertain significance 239996 rs373442399 17:63533446-63533446 17:65537328-65537328 CLR023 Colorectal Cancer TP53 NM_001126112.2(TP53):c.461G>A (p.Gly154Asp) SNV Uncertain significance 237950 rs762846821 17:7578469-7578469 17:7675151-7675151 CLR023 Colorectal Cancer POLD1 NM_002691.4(POLD1):c.353C>T (p.Ser118Phe) SNV Uncertain significance 239345 rs780604625 19:50905071-50905071 19:50401814-50401814 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.154C>T (p.Arg52Trp) SNV Uncertain significance 240396 rs115452881 12:133257774-133257774 12:132681188-132681188 CLR023 Colorectal Cancer POLE NM_006231.3(POLE):c.3971G>A (p.Arg1324His) SNV Uncertain significance 240495 rs143981093 12:133225926-133225926 12:132649340-132649340 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.2645A>G (p.Asn882Ser) SNV Uncertain significance 240439 rs539312991 12:133240651-133240651 12:132664065-132664065 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.1717C>T (p.Arg573Trp) SNV Uncertain significance 240403 rs373000452 12:133248878-133248878 12:132672292-132672292 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.6674G>A (p.Arg2225His) SNV Uncertain significance 240612 rs538875477 12:133201564-133201564 12:132624978-132624978 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.6257T>C (p.Met2086Thr) SNV Uncertain significance 240588 rs528752399 12:133208974-133208974 12:132632388-132632388 CLR023 Colorectal Cancer TP53 NM_001126112.2(TP53):c.1060C>A (p.Gln354Lys) SNV Uncertain significance 231485 rs755394212 17:7573967-7573967 17:7670649-7670649 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.8513dup (p.Tyr2838Ter) duplication Uncertain significance 224555 rs869312786 5:112179803-112179804 5:112844106-112844107 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.920A>T (p.His307Leu) SNV Uncertain significance 224556 rs869312787 5:112151277-112151277 5:112815580-112815580 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.3080A>G (p.Tyr1027Cys) SNV Uncertain significance 224553 rs869312784 5:112174371-112174371 5:112838674-112838674 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.7235A>G (p.Lys2412Arg) SNV Uncertain significance 224554 rs869312785 5:112178526-112178526 5:112842829-112842829 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.2214G>C (p.Lys738Asn) SNV Uncertain significance 226044 rs749305408 12:133244194-133244194 12:132667608-132667608 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1553C>T (p.Thr518Met) SNV Uncertain significance 231917 rs371453363 5:112163630-112163630 5:112827933-112827933 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.2474A>G (p.Tyr825Cys) SNV Uncertain significance 232924 rs186641437 5:112173765-112173765 5:112838068-112838068 CLR023 Colorectal Cancer PALB2 NM_024675.3(PALB2):c.3232T>A (p.Cys1078Ser) SNV Uncertain significance 232150 rs876659587 16:23619303-23619303 16:23607982-23607982 CLR023 Colorectal Cancer PALB2 NM_024675.3(PALB2):c.2971G>T (p.Val991Phe) SNV Uncertain significance 231886 rs765175665 16:23634315-23634315 16:23622994-23622994 CLR023 Colorectal Cancer DCC NM_005215.4(DCC):c.3872G>A (p.Arg1291Gln) SNV Uncertain significance 375864 rs768577706 18:51013302-51013302 18:53486932-53486932 CLR023 Colorectal Cancer DCC NM_005215.4(DCC):c.4028G>A (p.Arg1343His) SNV Uncertain significance 375859 rs149118168 18:51025797-51025797 18:53499427-53499427 CLR023 Colorectal Cancer MLH3 NM_001040108.1(MLH3):c.713A>G (p.Tyr238Cys) SNV Uncertain significance 375855 rs144707485 14:75515646-75515646 14:75048943-75048943 CLR023 Colorectal Cancer POLD1 NM_002691.4(POLD1):c.3035G>A (p.Cys1012Tyr) SNV Uncertain significance 375857 rs1057519693 19:50919948-50919948 19:50416691-50416691 CLR023 Colorectal Cancer POLD1 NM_002691.4(POLD1):c.3041G>A (p.Gly1014Asp) SNV Uncertain significance 375858 rs1057519694 19:50919954-50919954 19:50416697-50416697 CLR023 Colorectal Cancer AXIN2 NM_004655.4(AXIN2):c.1651T>C (p.Cys551Arg) SNV Uncertain significance 182006 rs730881398 17:63533503-63533503 17:65537385-65537385 CLR023 Colorectal Cancer PALB2 NM_024675.3(PALB2):c.3404G>A (p.Gly1135Glu) SNV Uncertain significance 182775 rs730881894 16:23614937-23614937 16:23603616-23603616 CLR023 Colorectal Cancer MUTYH NM_001128425.1(MUTYH):c.1090C>T (p.Arg364Cys) SNV Uncertain significance 156508 rs151316420 1:45797429-45797429 1:45331757-45331757 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.8276G>A (p.Arg2759His) SNV Uncertain significance 141690 rs538289470 5:112179567-112179567 5:112843870-112843870 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.5290C>G (p.Gln1764Glu) SNV Uncertain significance 141021 rs529543591 5:112176581-112176581 5:112840884-112840884 CLR023 Colorectal Cancer BRCA2 NM_000059.3(BRCA2):c.8471G>C (p.Arg2824Thr) SNV Uncertain significance 96868 rs431825366 13:32944678-32944678 13:32370541-32370541 CLR023 Colorectal Cancer TP53 NM_000546.6(TP53):c.847C>T (p.Arg283Cys) SNV Uncertain significance 127824 rs149633775 17:7577091-7577091 17:7673773-7673773 CLR023 Colorectal Cancer BARD1 NM_000465.4(BARD1):c.1217G>A (p.Arg406Gln) SNV Uncertain significance 127713 rs587780014 2:215645381-215645381 2:214780657-214780657 CLR023 Colorectal Cancer XRCC2 NM_005431.2(XRCC2):c.641G>A (p.Arg214Gln) SNV Uncertain significance 127961 rs368445278 7:152345929-152345929 7:152648844-152648844 CLR023 Colorectal Cancer CHEK2 NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr) SNV Uncertain significance 133888 rs371657037 22:29130553-29130553 22:28734565-28734565 CLR023 Colorectal Cancer BUB1B NM_001211.5(BUB1B):c.1478C>T (p.Thr493Ile) SNV Uncertain significance 133767 rs146795655 15:40492521-40492521 15:40200320-40200320 CLR023 Colorectal Cancer MSH2 NM_000251.2(MSH2):c.2354A>G (p.His785Arg) SNV Uncertain significance 188316 rs200252727 2:47705554-47705554 2:47478415-47478415 CLR023 Colorectal Cancer PALB2 NM_024675.3(PALB2):c.3106G>C (p.Val1036Leu) SNV Uncertain significance 188131 rs756906403 16:23632690-23632690 16:23621369-23621369 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.6257C>G (p.Pro2086Arg) SNV Uncertain significance 186466 rs786202975 5:112177548-112177548 5:112841851-112841851 CLR023 Colorectal Cancer PALB2 NM_024675.3(PALB2):c.1766C>T (p.Thr589Met) SNV Uncertain significance 187669 rs773340677 16:23641709-23641709 16:23630388-23630388 CLR023 Colorectal Cancer PALB2 NM_024675.3(PALB2):c.1454C>T (p.Thr485Ile) SNV Uncertain significance 186107 rs786202699 16:23646413-23646413 16:23635092-23635092 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.4424C>T (p.Ala1475Val) SNV Uncertain significance 186197 rs375380414 5:112175715-112175715 5:112840018-112840018 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.5105G>A (p.Gly1702Glu) SNV Uncertain significance 184169 rs769273526 5:112176396-112176396 5:112840699-112840699 CLR023 Colorectal Cancer PALB2 NM_024675.3(PALB2):c.3103A>T (p.Ile1035Phe) SNV Uncertain significance 219857 rs863224783 16:23632693-23632693 16:23621372-23621372 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.8462A>G (p.Asp2821Gly) SNV Uncertain significance 216188 rs780049836 5:112179753-112179753 5:112844056-112844056 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.2089C>A (p.Pro697Thr) SNV Uncertain significance 220705 rs5744800 12:133245026-133245026 12:132668440-132668440 CLR023 Colorectal Cancer POLD1 NM_002691.4(POLD1):c.674G>A (p.Arg225His) SNV Uncertain significance 220850 rs144979965 19:50905546-50905546 19:50402289-50402289 CLR023 Colorectal Cancer KDR NM_002253.3(KDR):c.3487C>T (p.Leu1163Phe) SNV Uncertain significance 204338 rs761176323 4:55955058-55955058 4:55088891-55088891 CLR023 Colorectal Cancer KDR NM_002253.3(KDR):c.3465G>A (p.Glu1155=) SNV Uncertain significance 204337 rs795939488 4:55955080-55955080 4:55088913-55088913 CLR023 Colorectal Cancer KDR NM_002253.3(KDR):c.3441C>G (p.Pro1147=) SNV Uncertain significance 204336 rs795939487 4:55955104-55955104 4:55088937-55088937 CLR023 Colorectal Cancer KDR NM_002253.3(KDR):c.3405-4C>T SNV Uncertain significance 204335 rs370501217 4:55955144-55955144 4:55088977-55088977 CLR023 Colorectal Cancer KDR NM_002253.3(KDR):c.2721G>C (p.Lys907Asn) SNV Uncertain significance 204329 rs200773668 4:55962403-55962403 4:55096236-55096236 CLR023 Colorectal Cancer KDR NM_002253.3(KDR):c.2705T>A (p.Leu902Gln) SNV Uncertain significance 204328 rs794729678 4:55962419-55962419 4:55096252-55096252 CLR023 Colorectal Cancer KDR NM_002253.3(KDR):c.2676T>A (p.Ile892=) SNV Uncertain significance 204327 rs794729677 4:55962448-55962448 4:55096281-55096281 CLR023 Colorectal Cancer KDR NM_002253.3(KDR):c.2656C>A (p.Leu886Ile) SNV Uncertain significance 204326 rs794729676 4:55962468-55962468 4:55096301-55096301 CLR023 Colorectal Cancer KDR NM_002253.3(KDR):c.2615-23C>T SNV Uncertain significance 204325 rs778886056 4:55962532-55962532 4:55096365-55096365 CLR023 Colorectal Cancer KDR NM_002253.3(KDR):c.2598A>C (p.Ala866=) SNV Uncertain significance 204334 rs795939486 4:55963845-55963845 4:55097678-55097678 CLR023 Colorectal Cancer KDR NM_002253.3(KDR):c.2544G>T (p.Val848=) SNV Uncertain significance 204333 rs795902899 4:55963899-55963899 4:55097732-55097732 CLR023 Colorectal Cancer KDR NM_002253.3(KDR):c.2510-27del deletion Uncertain significance 204332 rs795902898 4:55963960-55963960 4:55097793-55097793 CLR023 Colorectal Cancer KDR NM_002253.3(KDR):c.2509+20T>A SNV Uncertain significance 204331 rs795902897 4:55964284-55964284 4:55098117-55098117 CLR023 Colorectal Cancer KDR NM_002253.3(KDR):c.2380G>A (p.Gly794Arg) SNV Uncertain significance 204330 rs795902896 4:55964433-55964433 4:55098266-55098266 CLR023 Colorectal Cancer FLT4 NM_182925.5(FLT4):c.3076del (p.Glu1026fs) deletion Uncertain significance 204353 rs796052110 5:180043920-180043920 5:180616920-180616920 CLR023 Colorectal Cancer FLT4 NM_182925.5(FLT4):c.3072del (p.Met1025fs) deletion Uncertain significance 204354 rs796052111 5:180043924-180043924 5:180616924-180616924 CLR023 Colorectal Cancer FLT4 NM_182925.5(FLT4):c.3065C>T (p.Ala1022Val) SNV Uncertain significance 204355 rs56364366 5:180043931-180043931 5:180616931-180616931 CLR023 Colorectal Cancer FLT4 NM_182925.5(FLT4):c.3064del (p.Ala1022fs) deletion Uncertain significance 204356 rs796052112 5:180043932-180043932 5:180616932-180616932 CLR023 Colorectal Cancer FLT4 NM_182925.5(FLT4):c.3056del (p.Phe1019fs) deletion Uncertain significance 204357 rs796052113 5:180043940-180043940 5:180616940-180616940 CLR023 Colorectal Cancer FLT4 NM_182925.5(FLT4):c.3002-9A>C SNV Uncertain significance 204358 rs796052114 5:180044003-180044003 5:180617003-180617003 CLR023 Colorectal Cancer FLT4 NM_182925.5(FLT4):c.2647+31del deletion Uncertain significance 204352 rs796052109 5:180046634-180046634 5:180619634-180619634 CLR023 Colorectal Cancer FLT4 NM_182925.5(FLT4):c.2542+20del deletion Uncertain significance 204339 rs796052097 5:180047153-180047153 5:180620153-180620153 CLR023 Colorectal Cancer FLT4 NM_182925.5(FLT4):c.2542+18del deletion Uncertain significance 204340 rs796052098 5:180047155-180047155 5:180620155-180620155 CLR023 Colorectal Cancer FLT4 NM_182925.5(FLT4):c.2542+12A>G SNV Uncertain significance 204341 rs751737827 5:180047161-180047161 5:180620161-180620161 CLR023 Colorectal Cancer FLT4 NM_182925.5(FLT4):c.2519del (p.Phe840fs) deletion Uncertain significance 204342 rs796052099 5:180047196-180047196 5:180620196-180620196 CLR023 Colorectal Cancer FLT4 NM_182925.5(FLT4):c.2507G>A (p.Ser836Asn) SNV Uncertain significance 204343 rs796052100 5:180047208-180047208 5:180620208-180620208 CLR023 Colorectal Cancer FLT4 NM_182925.5(FLT4):c.2502T>A (p.Asp834Glu) SNV Uncertain significance 204344 rs796052101 5:180047213-180047213 5:180620213-180620213 CLR023 Colorectal Cancer FLT4 NM_182925.5(FLT4):c.2498A>C (p.Tyr833Ser) SNV Uncertain significance 204345 rs796052102 5:180047217-180047217 5:180620217-180620217 CLR023 Colorectal Cancer FLT4 NM_182925.5(FLT4):c.2496C>G (p.Ser832=) SNV Uncertain significance 204346 rs796052103 5:180047219-180047219 5:180620219-180620219 CLR023 Colorectal Cancer FLT4 NM_182925.5(FLT4):c.2470C>A (p.Leu824Met) SNV Uncertain significance 204347 rs796052104 5:180047245-180047245 5:180620245-180620245 CLR023 Colorectal Cancer FLT4 NM_182925.5(FLT4):c.2433C>A (p.Gly811=) SNV Uncertain significance 204348 rs796052105 5:180047282-180047282 5:180620282-180620282 CLR023 Colorectal Cancer FLT4 NM_182925.5(FLT4):c.2414A>C (p.His805Pro) SNV Uncertain significance 204349 rs796052106 5:180047301-180047301 5:180620301-180620301 CLR023 Colorectal Cancer FLT4 NM_182925.5(FLT4):c.2407-6C>G SNV Uncertain significance 204350 rs796052107 5:180047314-180047314 5:180620314-180620314 CLR023 Colorectal Cancer FLT4 NM_182925.5(FLT4):c.2407-7C>T SNV Uncertain significance 204351 rs796052108 5:180047315-180047315 5:180620315-180620315 CLR023 Colorectal Cancer FLT1 NM_002019.4(FLT1):c.2439_2466del (p.Tyr815fs) deletion Uncertain significance 204359 rs796052115 13:28913327-28913354 13:28339190-28339217 CLR023 Colorectal Cancer MSH6 NM_000179.2(MSH6):c.854G>T (p.Ser285Ile) SNV Uncertain significance 89571 rs63750878 2:48025976-48025976 2:47798837-47798837 CLR023 Colorectal Cancer MSH6 NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly) SNV Uncertain significance 89281 rs63751450 2:48027530-48027530 2:47800391-47800391 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.*405C>A SNV Uncertain significance 83256 rs79379053 5:112180228-112180228 5:112844531-112844531 CLR023 Colorectal Cancer TP53 NM_001126112.2(TP53):c.974G>T (p.Gly325Val) SNV Uncertain significance 12367 rs121912659 17:7576872-7576872 17:7673554-7673554 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.8134C>T (p.Pro2712Ser) SNV Uncertain significance 83251 rs76933416 5:112179425-112179425 5:112843728-112843728 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.7049C>T (p.Ser2350Phe) SNV Uncertain significance 83247 rs75207119 5:112178340-112178340 5:112842643-112842643 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1912A>G (p.Ile638Val) SNV Uncertain significance 83212 rs75117039 5:112170816-112170816 5:112835119-112835119 CLR023 Colorectal Cancer FGFR3 NM_001163213.1(FGFR3):c.2159A>G (p.Asn720Ser) SNV Uncertain significance 521225 rs139773438 4:1808395-1808395 4:1806668-1806668 CLR023 Colorectal Cancer SMAD4 NM_005359.6(SMAD4):c.1610A>G (p.Asp537Gly) SNV Uncertain significance 523175 rs1555687605 18:48604788-48604788 18:51078418-51078418 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.3617A>G (p.Asn1206Ser) SNV Uncertain significance 664510 22:41556672-41556672 22:41160668-41160668 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.4994G>A (p.Arg1665His) SNV Uncertain significance 666172 22:41572465-41572465 22:41176461-41176461 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.7070A>G (p.Asn2357Ser) SNV Uncertain significance 660420 22:41574785-41574785 22:41178781-41178781 CLR023 Colorectal Cancer GREM1 NC_000015.9:g.(?_32976738)_(33023456_?)dup duplication Uncertain significance 656826 15:32976738-33023456 15:32684537-32731255 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.5422A>C (p.Asn1808His) SNV Uncertain significance 572861 rs1569120861 22:41573137-41573137 22:41177133-41177133 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.6433C>T (p.Arg2145Ter) SNV Uncertain significance 584829 rs1451513451 12:133202801-133202801 12:132626215-132626215 CLR023 Colorectal Cancer POLE NM_006231.3(POLE):c.5883_5885GGA[3] (p.Glu1966del) short repeat Uncertain significance 584830 rs757774039 12:133210882-133210884 12:132634296-132634298 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.5647G>A (p.Ala1883Thr) SNV Uncertain significance 584831 rs1565931961 12:133214631-133214631 12:132638045-132638045 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.4945A>G (p.Met1649Val) SNV Uncertain significance 584832 rs1565937350 12:133219099-133219099 12:132642513-132642513 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.4754T>A (p.Ile1585Asn) SNV Uncertain significance 584833 rs1565937957 12:133219290-133219290 12:132642704-132642704 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.4476C>G (p.His1492Gln) SNV Uncertain significance 584834 rs5744943 12:133219885-133219885 12:132643299-132643299 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.3722A>C (p.Glu1241Ala) SNV Uncertain significance 584835 rs755166232 12:133226336-133226336 12:132649750-132649750 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.3715C>G (p.Gln1239Glu) SNV Uncertain significance 584836 rs1565946576 12:133226343-133226343 12:132649757-132649757 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.1741G>T (p.Ala581Ser) SNV Uncertain significance 584837 rs755090755 12:133248854-133248854 12:132672268-132672268 CLR023 Colorectal Cancer POLD1 NM_002691.4(POLD1):c.189G>T (p.Glu63Asp) SNV Uncertain significance 584986 rs776773005 19:50902297-50902297 19:50399040-50399040 CLR023 Colorectal Cancer POLD1 NM_002691.4(POLD1):c.1687-2A>G SNV Uncertain significance 584987 rs1568628299 19:50910582-50910582 19:50407325-50407325 CLR023 Colorectal Cancer POLD1 NM_002691.4(POLD1):c.2874G>A (p.Leu958=) SNV Uncertain significance 584988 rs1568639764 19:50919706-50919706 19:50416449-50416449 CLR023 Colorectal Cancer SEMA4A NM_022367.4(SEMA4A):c.1481G>A (p.Arg494Gln) SNV Uncertain significance 599330 rs559896573 1:156144923-156144923 1:156175132-156175132 CLR023 Colorectal Cancer POLE NM_006231.3(POLE):c.1396A>G (p.Thr466Ala) SNV Uncertain significance 560020 rs761765763 12:133249827-133249827 12:132673241-132673241 CLR023 Colorectal Cancer GREM1 NC_000015.9:g.(?_32964740)_(33023456_?)dup duplication Uncertain significance 583730 15:32964740-33023456 15:32672539-32731255 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.5288A>G (p.Gln1763Arg) SNV Uncertain significance 571244 rs1565935906 12:133218323-133218323 12:132641737-132641737 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.307G>A (p.Val103Ile) SNV Uncertain significance 578464 rs1193355188 22:41513403-41513403 22:41117399-41117399 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.359G>A (p.Ser120Asn) SNV Uncertain significance 570077 rs1303897359 22:41513455-41513455 22:41117451-41117451 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.1989C>T (p.Gly663=) SNV Uncertain significance 578687 rs1291428868 22:41537162-41537162 22:41141158-41141158 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.4331A>G (p.Asp1444Gly) SNV Uncertain significance 577113 rs1569117388 22:41566454-41566454 22:41170450-41170450 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.4529C>G (p.Pro1510Arg) SNV Uncertain significance 575459 rs1569118503 22:41568579-41568579 22:41172575-41172575 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.1627A>G (p.Met543Val) SNV Uncertain significance 581340 rs142823793 22:41533661-41533661 22:41137657-41137657 CLR023 Colorectal Cancer FGFR3 NM_001163213.1(FGFR3):c.200G>A (p.Gly67Asp) SNV Uncertain significance 546226 rs369232922 4:1801071-1801071 4:1799344-1799344 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.5478G>C (p.Lys1826Asn) SNV Uncertain significance 559945 rs768922376 5:112176769-112176769 5:112841072-112841072 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.3716G>A (p.Arg1239Lys) SNV Uncertain significance 559947 rs754067085 5:112175007-112175007 5:112839310-112839310 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.7172T>G (p.Ile2391Ser) SNV Uncertain significance 559956 rs747797803 5:112178463-112178463 5:112842766-112842766 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.3381G>C (p.Gln1127His) SNV Uncertain significance 559963 rs1554084977 5:112174672-112174672 5:112838975-112838975 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.2986A>G (p.Ser996Gly) SNV Uncertain significance 559964 rs1554084628 5:112174277-112174277 5:112838580-112838580 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.6893C>T (p.Ala2298Val) SNV Uncertain significance 559966 rs1554087829 5:112178184-112178184 5:112842487-112842487 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.6043A>G (p.Met2015Val) SNV Uncertain significance 859366 22:41573758-41573758 22:41177754-41177754 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.1541T>C (p.Met514Thr) SNV Uncertain significance 857858 22:41531829-41531829 22:41135825-41135825 CLR023 Colorectal Cancer GREM1 NC_000015.10:g.(?_32694020)_(32731255_?)dup duplication Uncertain significance 830504 15:32986221-33023456 CLR023 Colorectal Cancer GREM1 NC_000015.10:g.(?_32696494)_(32718535_?)dup duplication Uncertain significance 831190 15:32988695-33010736 CLR023 Colorectal Cancer GREM1 NC_000015.10:g.(?_32696494)_(32731245_?)dup duplication Uncertain significance 831612 15:32988695-33023446 CLR023 Colorectal Cancer FLT4 NM_182925.5(FLT4):c.2104G>T (p.Ala702Ser) SNV Uncertain significance 802188 5:180048169-180048169 5:180621169-180621169 CLR023 Colorectal Cancer PALB2 NM_024675.4(PALB2):c.3026C>T (p.Pro1009Leu) SNV Uncertain significance 830185 16:23632770-23632770 16:23621449-23621449 CLR023 Colorectal Cancer PALB2 NM_024675.4(PALB2):c.247C>A (p.His83Asn) SNV Uncertain significance 830096 16:23647620-23647620 16:23636299-23636299 CLR023 Colorectal Cancer PALB2 NM_024675.4(PALB2):c.227T>C (p.Ile76Thr) SNV Uncertain significance 830095 16:23647640-23647640 16:23636319-23636319 CLR023 Colorectal Cancer PALB2 NM_024675.4(PALB2):c.21G>T (p.Lys7Asn) SNV Uncertain significance 830083 16:23652458-23652458 16:23641137-23641137 CLR023 Colorectal Cancer GREM1 NC_000015.10:g.(?_32672539)_(32679935_?)dup duplication Uncertain significance 832812 15:32964740-32972136 CLR023 Colorectal Cancer GREM1 NC_000015.10:g.(?_32672688)_(32731245_?)dup duplication Uncertain significance 830437 15:32964889-33023446 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.2209A>G (p.Thr737Ala) SNV Uncertain significance 405791 rs779102091 12:133244199-133244199 12:132667613-132667613 CLR023 Colorectal Cancer BUB1B NM_001211.5(BUB1B):c.1453G>A (p.Glu485Lys) SNV Uncertain significance 403748 rs770704003 15:40492496-40492496 15:40200295-40200295 CLR023 Colorectal Cancer PALB2 NM_024675.3(PALB2):c.1537A>G (p.Thr513Ala) SNV Uncertain significance 410118 rs1060502741 16:23646330-23646330 16:23635009-23635009 CLR023 Colorectal Cancer AXIN2 NM_004655.4(AXIN2):c.2216A>G (p.Asn739Ser) SNV Uncertain significance 408802 rs547630327 17:63531765-63531765 17:65535647-65535647 CLR023 Colorectal Cancer AXIN2 NM_004655.4(AXIN2):c.1363C>G (p.Pro455Ala) SNV Uncertain significance 408785 rs779863826 17:63533791-63533791 17:65537673-65537673 CLR023 Colorectal Cancer TP53 NM_001126112.2(TP53):c.760A>G (p.Ile254Val) SNV Uncertain significance 406605 rs746601313 17:7577521-7577521 17:7674203-7674203 CLR023 Colorectal Cancer AXIN2 NM_004655.4(AXIN2):c.1553A>G (p.Tyr518Cys) SNV Uncertain significance 408823 rs368289818 17:63533601-63533601 17:65537483-65537483 CLR023 Colorectal Cancer AXIN2 NM_004655.4(AXIN2):c.1744A>G (p.Asn582Asp) SNV Uncertain significance 408838 rs567511335 17:63533150-63533150 17:65537032-65537032 CLR023 Colorectal Cancer AXIN2 NM_004655.4(AXIN2):c.1222G>A (p.Glu408Lys) SNV Uncertain significance 408784 rs749846538 17:63533932-63533932 17:65537814-65537814 CLR023 Colorectal Cancer TP53 NM_001126112.2(TP53):c.843C>A (p.Asp281Glu) SNV Uncertain significance 406568 rs1057519984 17:7577095-7577095 17:7673777-7673777 CLR023 Colorectal Cancer POLD1 NM_002691.4(POLD1):c.197C>G (p.Ala66Gly) SNV Uncertain significance 408049 rs199792522 19:50902305-50902305 19:50399048-50399048 CLR023 Colorectal Cancer POLD1 NM_002691.4(POLD1):c.2449C>G (p.Arg817Gly) SNV Uncertain significance 408091 rs148176230 19:50918132-50918132 19:50414875-50414875 CLR023 Colorectal Cancer POLD1 NM_002691.4(POLD1):c.3157C>T (p.Arg1053Cys) SNV Uncertain significance 408119 rs779208942 19:50920465-50920465 19:50417208-50417208 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1396A>G (p.Met466Val) SNV Uncertain significance 418009 rs781364007 5:112157676-112157676 5:112821979-112821979 CLR023 Colorectal Cancer PALB2 NM_024675.3(PALB2):c.1399G>A (p.Gly467Ser) SNV Uncertain significance 421651 rs45602239 16:23646468-23646468 16:23635147-23635147 CLR023 Colorectal Cancer POLD1 NM_002691.4(POLD1):c.2987C>T (p.Thr996Met) SNV Uncertain significance 422465 rs918661445 19:50919900-50919900 19:50416643-50416643 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.5429A>T (p.His1810Leu) SNV Uncertain significance 405694 rs777390504 12:133215834-133215834 12:132639248-132639248 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.4505C>T (p.Pro1502Leu) SNV Uncertain significance 438291 rs1555911573 22:41568555-41568555 22:41172551-41172551 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.5398G>A (p.Val1800Met) SNV Uncertain significance 439277 rs199777048 12:133215865-133215865 12:132639279-132639279 CLR023 Colorectal Cancer PIK3CA NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg) SNV Uncertain significance 403909 rs113613074 3:178922361-178922361 3:179204573-179204573 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.791A>G (p.Gln264Arg) SNV Uncertain significance 411364 rs369345931 5:112137037-112137037 5:112801340-112801340 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.10G>C (p.Ala4Pro) SNV Uncertain significance 411481 rs774219012 5:112090597-112090597 5:112754900-112754900 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.3437G>A (p.Arg1146His) SNV Uncertain significance 411568 rs763486328 5:112174728-112174728 5:112839031-112839031 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.5026_5028del (p.Arg1676del) deletion Uncertain significance 411414 rs768369050 5:112176317-112176319 5:112840620-112840622 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys) SNV Uncertain significance 405704 rs771490182 12:133202789-133202789 12:132626203-132626203 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.5575C>G (p.Leu1859Val) SNV Uncertain significance 405601 rs184253572 12:133214703-133214703 12:132638117-132638117 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.5312C>T (p.Thr1771Met) SNV Uncertain significance 405600 rs777695766 12:133218299-133218299 12:132641713-132641713 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.2099C>T (p.Pro700Leu) SNV Uncertain significance 405735 rs777002868 12:133245016-133245016 12:132668430-132668430 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.4343A>G (p.Asn1448Ser) SNV Uncertain significance 405736 rs150545516 12:133220094-133220094 12:132643508-132643508 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.6581A>G (p.Tyr2194Cys) SNV Uncertain significance 405850 rs1060500872 12:133202307-133202307 12:132625721-132625721 CLR023 Colorectal Cancer APC NM_001127511.3(APC):c.1A>G (p.Met1Val) SNV Uncertain significance 469802 rs189807660 5:112043415-112043415 5:112707718-112707718 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.4847A>T (p.Lys1616Ile) SNV Uncertain significance 469979 rs1554086241 5:112176138-112176138 5:112840441-112840441 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.7166G>A (p.Ser2389Asn) SNV Uncertain significance 470080 rs779287035 5:112178457-112178457 5:112842760-112842760 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.3539_3541AGA[2] (p.Lys1182del) short repeat Uncertain significance 473601 rs1555225139 12:133233757-133233759 12:132657171-132657173 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.4427T>G (p.Phe1476Cys) SNV Uncertain significance 473663 rs985504177 12:133220010-133220010 12:132643424-132643424 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.3865C>T (p.Arg1289Cys) SNV Uncertain significance 473626 rs770036124 12:133226032-133226032 12:132649446-132649446 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.4522C>G (p.Arg1508Gly) SNV Uncertain significance 473670 rs766511597 12:133219839-133219839 12:132643253-132643253 CLR023 Colorectal Cancer GREM1 NC_000015.9:g.(?_32964740)_(32988830_?)dup duplication Uncertain significance 476577 15:32964740-32988830 15:32672539-32696629 CLR023 Colorectal Cancer GREM1 NC_000015.9:g.(?_32964740)_(33004759_?)dup duplication Uncertain significance 476578 15:32672539-32712558 CLR023 Colorectal Cancer AXIN2 NM_004655.4(AXIN2):c.2182G>A (p.Ala728Thr) SNV Uncertain significance 464597 rs141260153 17:63531799-63531799 17:65535681-65535681 CLR023 Colorectal Cancer FLCN NM_144997.7(FLCN):c.451G>A (p.Val151Met) SNV Uncertain significance 460616 rs147164515 17:17127403-17127403 17:17224089-17224089 CLR023 Colorectal Cancer POLD1 NM_002691.4(POLD1):c.1109G>T (p.Ser370Ile) SNV Uncertain significance 469173 rs868850526 19:50906448-50906448 19:50403191-50403191 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.5267C>T (p.Ser1756Phe) SNV Uncertain significance 482341 rs773178712 5:112176558-112176558 5:112840861-112840861 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.6736G>A (p.Val2246Ile) SNV Uncertain significance 486735 rs1055180096 5:112178027-112178027 5:112842330-112842330 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.6747+5G>A SNV Uncertain significance 484444 rs1555300791 12:133201486-133201486 12:132624900-132624900 CLR023 Colorectal Cancer PALB2 NM_024675.3(PALB2):c.2234A>G (p.Lys745Arg) SNV Uncertain significance 480232 rs142343372 16:23641241-23641241 16:23629920-23629920 CLR023 Colorectal Cancer PALB2 NM_024675.3(PALB2):c.364G>A (p.Asp122Asn) SNV Uncertain significance 480271 rs730881880 16:23647503-23647503 16:23636182-23636182 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1762G>A (p.Val588Ile) SNV Uncertain significance 469719 rs372416031 5:112170666-112170666 5:112834969-112834969 CLR023 Colorectal Cancer FGFR3 NM_001163213.1(FGFR3):c.1999G>T (p.Ala667Ser) SNV Uncertain significance 465350 rs764892330 4:1808017-1808017 4:1806290-1806290 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1803G>C (p.Glu601Asp) SNV Uncertain significance 490226 rs1447250546 5:112170707-112170707 5:112835010-112835010 CLR023 Colorectal Cancer GALNT12 NM_024642.5(GALNT12):c.1281_1296del (p.Trp427fs) deletion Uncertain significance 496665 rs1472145598 9:101602349-101602364 9:98840067-98840082 CLR023 Colorectal Cancer POLD1 NM_002691.4(POLD1):c.46A>G (p.Lys16Glu) SNV Uncertain significance 496661 rs765185645 19:50902154-50902154 19:50398897-50398897 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.2005A>G (p.Met669Val) SNV Uncertain significance 501114 rs749541256 22:41537178-41537178 22:41141174-41141174 CLR023 Colorectal Cancer BARD1 NM_000465.4(BARD1):c.1918C>A (p.Leu640Ile) SNV Uncertain significance 530056 rs1553612535 2:215595218-215595218 2:214730494-214730494 CLR023 Colorectal Cancer PIK3CA NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile) SNV Uncertain significance 526641 rs755969956 3:178917561-178917561 3:179199773-179199773 CLR023 Colorectal Cancer POLE NM_006231.4(POLE):c.5573G>A (p.Arg1858His) SNV Uncertain significance 540672 rs1445288473 12:133214705-133214705 12:132638119-132638119 CLR023 Colorectal Cancer GREM1 NC_000015.9:g.(?_32988695)_(33004759_?)dup duplication Uncertain significance 543045 15:32988695-33004759 15:32696494-32712558 CLR023 Colorectal Cancer BUB1B NM_001211.5(BUB1B):c.1361A>G (p.Lys454Arg) SNV Uncertain significance 533909 rs373256667 15:40491888-40491888 15:40199687-40199687 CLR023 Colorectal Cancer BUB1B NM_001211.5(BUB1B):c.737G>A (p.Gly246Glu) SNV Uncertain significance 533905 rs1407334063 15:40476070-40476070 15:40183869-40183869 CLR023 Colorectal Cancer FLCN NM_144997.7(FLCN):c.1309G>C (p.Val437Leu) SNV Uncertain significance 529982 rs772207015 17:17118622-17118622 17:17215308-17215308 CLR023 Colorectal Cancer AXIN2 NM_004655.4(AXIN2):c.1093G>A (p.Val365Met) SNV Uncertain significance 533223 rs761901627 17:63534428-63534428 17:65538310-65538310 CLR023 Colorectal Cancer MUTYH NM_001048171.1(MUTYH):c.1378C>T (p.Arg460Cys) SNV Uncertain significance 41754 rs200229669 1:45796910-45796910 1:45331238-45331238 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.7513C>G (p.Arg2505Gly) SNV Uncertain significance 82635 rs79630786 5:112178804-112178804 5:112843107-112843107 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1927T>C (p.Ser643Pro) SNV Uncertain significance 82615 rs78349383 5:112170831-112170831 5:112835134-112835134 CLR023 Colorectal Cancer AKT1 NM_005163.2(AKT1):c.49G>A (p.Glu17Lys) SNV Uncertain significance 13983 rs121434592 14:105246551-105246551 14:104780214-104780214 CLR023 Colorectal Cancer CYTB m.14985G>A SNV Uncertain significance 9676 rs207459995 MT:14985-14985 MT:14985-14985 CLR023 Colorectal Cancer COX1 m.6264G>A SNV Uncertain significance 9667 rs267606882 MT:6264-6264 MT:6264-6264 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.907-10T>C SNV Likely benign 774371 22:41523481-41523481 22:41127477-41127477 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.2348C>T (p.Ala783Val) SNV Likely benign 538872 rs755619355 22:41545148-41545148 22:41149144-41149144 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.2656C>T (p.Pro886Ser) SNV Likely benign 767051 22:41546041-41546041 22:41150037-41150037 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.4842T>C (p.Asp1614=) SNV Likely benign 790953 22:41572313-41572313 22:41176309-41176309 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.2513G>A (p.Arg838His) SNV Likely benign 718260 22:41545898-41545898 22:41149894-41149894 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.6414G>T (p.Ala2138=) SNV Likely benign 709006 22:41574129-41574129 22:41178125-41178125 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.1887C>T (p.Tyr629=) SNV Likely benign 734526 22:41537060-41537060 22:41141056-41141056 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.7161T>C (p.Gly2387=) SNV Likely benign 730757 22:41574876-41574876 22:41178872-41178872 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.7191C>T (p.Thr2397=) SNV Likely benign 735264 22:41574906-41574906 22:41178902-41178902 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.2245A>G (p.Met749Val) SNV Likely benign 753661 22:41545045-41545045 22:41149041-41149041 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.2367T>C (p.Ala789=) SNV Likely benign 756723 22:41545167-41545167 22:41149163-41149163 CLR023 Colorectal Cancer MSH2 NM_000251.3(MSH2):c.138C>G (p.His46Gln) SNV Likely benign 90654 rs33946261 2:47630468-47630468 2:47403329-47403329 CLR023 Colorectal Cancer MSH6 NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) SNV Likely benign 89279 rs61748083 2:48027520-48027520 2:47800381-47800381 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.2385C>T (p.Leu795=) SNV Likely benign 83234 rs80188155 5:112173676-112173676 5:112837979-112837979 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.316A>G (p.Ser106Gly) SNV Likely benign 134041 rs150245975 22:41513412-41513412 22:41117408-41117408 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.6390G>A (p.Met2130Ile) SNV Likely benign 134057 rs147973806 22:41574105-41574105 22:41178101-41178101 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.3624C>A (p.Ile1208=) SNV Likely benign 341803 rs143660871 22:41556679-41556679 22:41160675-41160675 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.5808G>A (p.Ala1936=) SNV Likely benign 341818 rs144798492 22:41573523-41573523 22:41177519-41177519 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.2609C>T (p.Pro870Leu) SNV Likely benign 341797 rs540935486 22:41545994-41545994 22:41149990-41149990 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.444G>A (p.Thr148=) SNV Likely benign 341776 rs376779611 22:41513540-41513540 22:41117536-41117536 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.678C>G (p.Gly226=) SNV Benign/Likely benign 341781 rs147244947 22:41513774-41513774 22:41117770-41117770 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) deletion Benign/Likely benign 341826 rs533875300 22:41574511-41574513 22:41178507-41178509 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.6969C>G (p.Pro2323=) SNV Benign/Likely benign 341829 rs111489369 22:41574684-41574684 22:41178680-41178680 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.4311A>C (p.Ala1437=) SNV Benign/Likely benign 341805 rs150941761 22:41566434-41566434 22:41170430-41170430 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.4503G>A (p.Leu1501=) SNV Benign/Likely benign 341806 rs368320273 22:41568553-41568553 22:41172549-41172549 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.6951G>A (p.Arg2317=) SNV Benign/Likely benign 341828 rs139551099 22:41574666-41574666 22:41178662-41178662 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.324C>T (p.Ala108=) SNV Benign/Likely benign 341775 rs138876937 22:41513420-41513420 22:41117416-41117416 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.5814G>A (p.Thr1938=) SNV Benign/Likely benign 286787 rs112948044 22:41573529-41573529 22:41177525-41177525 CLR023 Colorectal Cancer FLT4 NM_182925.5(FLT4):c.1921C>T (p.Pro641Ser) SNV Benign/Likely benign 263032 rs55667289 5:180048641-180048641 5:180621641-180621641 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.1519A>G (p.Ser507Gly) SNV Benign/Likely benign 134065 rs146242251 22:41527628-41527628 22:41131624-41131624 CLR023 Colorectal Cancer CHEK2 NM_007194.4(CHEK2):c.252A>G (p.Glu84=) SNV Benign/Likely benign 142139 rs1805129 22:29130458-29130458 22:28734470-28734470 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.942C>T (p.Gly314=) SNV Benign/Likely benign 158571 rs20553 22:41523526-41523526 22:41127522-41127522 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.1782G>C (p.Thr594=) SNV Benign/Likely benign 158557 rs17002307 22:41536165-41536165 22:41140161-41140161 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.6372C>T (p.Val2124=) SNV Benign/Likely benign 158568 rs34985152 22:41574087-41574087 22:41178083-41178083 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.6636G>A (p.Gln2212=) SNV Benign/Likely benign 158569 rs142673005 22:41574351-41574351 22:41178347-41178347 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.631G>A (p.Gly211Ser) SNV Benign/Likely benign 134043 rs142030651 22:41513727-41513727 22:41117723-41117723 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.865A>G (p.Met289Val) SNV Benign/Likely benign 134046 rs2230111 22:41522003-41522003 22:41125999-41125999 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.6481A>G (p.Met2161Val) SNV Benign/Likely benign 134049 rs188035979 22:41574196-41574196 22:41178192-41178192 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.5147G>C (p.Ser1716Thr) SNV Benign/Likely benign 134056 rs147676363 22:41572862-41572862 22:41176858-41176858 CLR023 Colorectal Cancer AKAP9 NM_005751.4(AKAP9):c.1389G>T (p.Met463Ile) SNV Benign/Likely benign 136347 rs6964587 7:91630620-91630620 7:92001306-92001306 CLR023 Colorectal Cancer CHEK2 NM_007194.4(CHEK2):c.593-14C>T SNV Benign/Likely benign 136742 rs145754558 22:29115487-29115487 22:28719499-28719499 CLR023 Colorectal Cancer CHEK2 NM_007194.4(CHEK2):c.1542+11T>A SNV Benign/Likely benign 140812 rs17881716 22:29085112-29085112 22:28689124-28689124 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) SNV Benign/Likely benign 133518 rs201830995 5:112174802-112174802 5:112839105-112839105 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) SNV Benign/Likely benign 134035 rs61756764 22:41542780-41542780 22:41146776-41146776 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) SNV Benign/Likely benign 134039 rs148884710 22:41546158-41546158 22:41150154-41150154 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.2576T>C (p.Ile859Thr) SNV Benign/Likely benign 134040 rs145714752 22:41545961-41545961 22:41149957-41149957 CLR023 Colorectal Cancer AXIN2 NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val) SNV Benign/Likely benign 127941 rs138287857 17:63532528-63532528 17:65536410-65536410 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.2499G>A (p.Ser833=) SNV Benign/Likely benign 93735 rs35560602 22:41545884-41545884 22:41149880-41149880 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.3063T>C (p.Thr1021=) SNV Benign/Likely benign 93737 rs142431552 22:41548275-41548275 22:41152271-41152271 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.3354C>T (p.Val1118=) SNV Benign/Likely benign 93739 rs11704815 22:41553265-41553265 22:41157261-41157261 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.6668A>C (p.Gln2223Pro) SNV Benign/Likely benign 93744 rs1046088 22:41574383-41574383 22:41178379-41178379 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.1168+7G>C SNV Benign/Likely benign 210937 rs181755354 22:41523759-41523759 22:41127755-41127755 CLR023 Colorectal Cancer POLD1 NM_002691.4(POLD1):c.433G>A (p.Ala145Thr) SNV Benign/Likely benign 221138 rs137953986 19:50905151-50905151 19:50401894-50401894 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.3426C>T (p.Cys1142=) SNV Benign/Likely benign 158563 rs76268515 22:41553337-41553337 22:41157333-41157333 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.2064A>G (p.Leu688=) SNV Benign/Likely benign 193844 rs61756763 22:41542753-41542753 22:41146749-41146749 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.2240C>T (p.Pro747Leu) SNV Benign/Likely benign 194036 rs193026103 22:41543949-41543949 22:41147945-41147945 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.6729C>T (p.Gly2243=) SNV Benign/Likely benign 196678 rs765194008 22:41574444-41574444 22:41178440-41178440 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.1283-8T>C SNV Benign/Likely benign 198132 rs76827562 22:41527384-41527384 22:41131380-41131380 CLR023 Colorectal Cancer ND1 m.3308T>C SNV Benign/Likely benign 9728 rs28358582 MT:3308-3308 MT:3308-3308 CLR023 Colorectal Cancer MUTYH NM_012222.2(MUTYH):c.1576C>A (p.Leu526Met) SNV Benign/Likely benign 41756 rs3219496 1:45795043-45795043 1:45329371-45329371 CLR023 Colorectal Cancer MUTYH NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) SNV Benign 41767 rs3219489 1:45797505-45797505 1:45331833-45331833 CLR023 Colorectal Cancer CDH1 NM_004360.5(CDH1):c.892G>A (p.Ala298Thr) SNV Benign 41787 rs142822590 16:68845646-68845646 16:68811743-68811743 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1458T>C (p.Tyr486=) SNV Benign 42238 rs2229992 5:112162854-112162854 5:112827157-112827157 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1635G>A (p.Ala545=) SNV Benign 42239 rs351771 5:112164561-112164561 5:112828864-112828864 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.4479G>A (p.Thr1493=) SNV Benign 42242 rs41115 5:112175770-112175770 5:112840073-112840073 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.5034G>A (p.Gly1678=) SNV Benign 42243 rs42427 5:112176325-112176325 5:112840628-112840628 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.5268T>G (p.Ser1756=) SNV Benign 42245 rs866006 5:112176559-112176559 5:112840862-112840862 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.5880G>A (p.Pro1960=) SNV Benign 42247 rs465899 5:112177171-112177171 5:112841474-112841474 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1958+8T>C SNV Benign 82616 rs62626346 5:112170870-112170870 5:112835173-112835173 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.5465T>A (p.Val1822Asp) SNV Benign 21030 rs459552 5:112176756-112176756 5:112841059-112841059 CLR023 Colorectal Cancer BUB1B NM_001211.5(BUB1B):c.119C>T (p.Thr40Met) SNV Benign 6758 rs56079734 15:40457337-40457337 15:40165136-40165136 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.3030C>T (p.Thr1010=) SNV Benign 765448 22:41548242-41548242 22:41152238-41152238 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.3143-9T>C SNV Benign 718189 22:41550990-41550990 22:41154986-41154986 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.3806+3A>G SNV Benign 713488 22:41560137-41560137 22:41164133-41164133 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.1104C>T (p.His368=) SNV Benign 712720 22:41523688-41523688 22:41127684-41127684 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.6675G>A (p.Gln2225=) SNV Benign 779068 22:41574390-41574390 22:41178386-41178386 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.6210G>A (p.Val2070=) SNV Benign 538875 rs11912899 22:41573925-41573925 22:41177921-41177921 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.1686A>C (p.Pro562=) SNV Benign 778975 22:41533720-41533720 22:41137716-41137716 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.1408+792A>T SNV Benign 82574 rs77551834 5:112158480-112158480 5:112822783-112822783 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.645+129A>C SNV Benign 82937 rs2289485 5:112116729-112116729 5:112781032-112781032 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.423-16A>T SNV Benign 82911 rs78919815 5:112111310-112111310 5:112775613-112775613 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.*434C>T SNV Benign 83257 rs12189 5:112180257-112180257 5:112844560-112844560 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.*1098T>C SNV Benign 83260 rs41116 5:112180921-112180921 5:112845224-112845224 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.*1460C>T SNV Benign 83261 rs3733961 5:112181283-112181283 5:112845586-112845586 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.*1556C>G SNV Benign 83262 rs448475 5:112181379-112181379 5:112845682-112845682 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.*1753G>A SNV Benign 83263 rs397768 5:112181576-112181576 5:112845879-112845879 CLR023 Colorectal Cancer APC NM_000038.6(APC):c.*86C>A SNV Benign 83252 rs1804197 5:112179909-112179909 5:112844212-112844212 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.5259C>T (p.Cys1753=) SNV Benign 196675 rs148040990 22:41572974-41572974 22:41176970-41176970 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.730-18_730-9del deletion Benign 93745 rs61120041 22:41521849-41521858 22:41125845-41125854 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.3348G>A (p.Gln1116=) SNV Benign 158562 rs20554 22:41553259-41553259 22:41157255-41157255 CLR023 Colorectal Cancer AXIN2 NM_004655.4(AXIN2):c.1386C>T (p.Pro462=) SNV Benign 259510 rs1133683 17:63533768-63533768 17:65537650-65537650 CLR023 Colorectal Cancer EP300 NM_001429.4(EP300):c.3030C>G (p.Thr1010=) SNV Benign 281394 rs148414681 22:41548242-41548242 22:41152238-41152238 CLR023 Colorectal Cancer FLT1 NM_002019.4(FLT1):c.3329G>C (p.Cys1110Ser) SNV not provided 183436 rs730882263 13:28891692-28891692 13:28317555-28317555 CLR023 Colorectal Cancer FLT1 NM_002019.4(FLT1):c.2654_2655insA (p.Gly886fs) insertion not provided 162077 rs555490448 13:28903804-28903805 13:28329667-28329668 CLR023 Colorectal Cancer FLT1 NM_002019.4(FLT1):c.3287-16A>C SNV not provided 162071 rs537403174 13:28891750-28891750 13:28317613-28317613 CLR023 Colorectal Cancer FLT1 NM_002019.4(FLT1):c.3204T>C (p.Pro1068=) SNV not provided 162072 rs2296189 13:28893642-28893642 13:28319505-28319505 CLR023 Colorectal Cancer FLT1 NM_002019.4(FLT1):c.3175-69A>T SNV not provided 162073 rs576912997 13:28893740-28893740 13:28319603-28319603 CLR023 Colorectal Cancer FLT1 NM_002019.4(FLT1):c.3042_3043insA (p.Ser1015fs) insertion not provided 162074 rs573848371 13:28896407-28896408 13:28322270-28322271 CLR023 Colorectal Cancer FLT1 NM_002019.4(FLT1):c.2901G>A (p.Ala967=) SNV not provided 162078 rs56314249 13:28896979-28896979 13:28322842-28322842 CLR023 Colorectal Cancer FLT1 NM_002019.4(FLT1):c.2871A>T (p.Leu957=) SNV not provided 162079 rs148695719 13:28897009-28897009 13:28322872-28322872 CLR023 Colorectal Cancer FLT1 NM_002019.4(FLT1):c.2708-29A>C SNV not provided 162075 rs558381447 13:28901716-28901716 13:28327579-28327579 CLR023 Colorectal Cancer FLT1 NM_002019.4(FLT1):c.2708-39G>C SNV not provided 162076 rs537105078 13:28901726-28901726 13:28327589-28327589 CLR023 Colorectal Cancer KAT5 NM_182710.3(KAT5):c.638T>G (p.Val213Gly) SNV not provided 55934 rs386834229 11:65481267-65481267 11:65713796-65713796 CLR023 Colorectal Cancer TRIM28 NM_005762.3(TRIM28):c.1216+23C>T SNV not provided 91860 rs398122526 19:59059798-59059798 19:58548431-58548431 CLR023 Colorectal Cancer MTO1 NM_012123.4(MTO1):c.97del (p.Arg33fs) deletion Pathogenic 638475 6:74171671-74171671 6:73461948-73461948 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1822del (p.Leu608fs) deletion Pathogenic 574880 rs1561954433 6:74207524-74207524 6:73497801-73497801 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1201C>T (p.Arg401Ter) SNV Pathogenic 840849 6:74190469-74190469 6:73480746-73480746 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1858dup (p.Arg620fs) duplication Pathogenic 35495 rs397518449 6:74207559-74207560 6:73497836-73497837 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1232C>T (p.Thr411Ile) SNV Pathogenic 89038 rs398122419 6:74190500-74190500 6:73480777-73480777 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr) SNV Pathogenic/Likely pathogenic 35496 rs143747297 6:74191784-74191784 6:73482061-73482061 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1430G>A (p.Arg477His) SNV Pathogenic/Likely pathogenic 89037 rs201544686 6:74191932-74191932 6:73482209-73482209 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.417+2T>C SNV Likely pathogenic 834420 6:74176133-74176133 6:73466410-73466410 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.938G>A (p.Arg313Gln) SNV Likely pathogenic 488550 rs371179032 6:74189567-74189567 6:73479844-73479844 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.963A>C (p.Lys321Asn) SNV Likely pathogenic 488551 rs1554148965 6:74189683-74189683 6:73479960-73479960 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1261-5T>G SNV Likely pathogenic 488552 rs1275100093 6:74191758-74191758 6:73482035-73482035 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1429C>T (p.Arg477Cys) SNV Likely pathogenic 488553 rs1033653237 6:74191931-74191931 6:73482208-73482208 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1450C>T (p.Arg484Trp) SNV Conflicting interpretations of pathogenicity 408272 rs748152539 6:74191952-74191952 6:73482229-73482229 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1325G>A (p.Arg442Gln) SNV Conflicting interpretations of pathogenicity 807632 6:74191827-74191827 6:73482104-73482104 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NC_000006.12:g.(?_73461845)_(73462081_?)dup duplication Uncertain significance 833101 6:74171568-74171804 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.203G>A (p.Arg68His) SNV Uncertain significance 863267 6:74171780-74171780 6:73462057-73462057 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.476T>C (p.Ile159Thr) SNV Uncertain significance 845336 6:74176270-74176270 6:73466547-73466547 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.868A>G (p.Arg290Gly) SNV Uncertain significance 851199 6:74189497-74189497 6:73479774-73479774 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1013G>A (p.Gly338Glu) SNV Uncertain significance 855717 6:74189733-74189733 6:73480010-73480010 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1934G>A (p.Arg645His) SNV Uncertain significance 567850 rs758448974 6:74210313-74210313 6:73500590-73500590 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1940C>T (p.Pro647Leu) SNV Uncertain significance 569978 rs151330992 6:74210319-74210319 6:73500596-73500596 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.623A>G (p.His208Arg) SNV Uncertain significance 575110 rs560308812 6:74183175-74183175 6:73473452-73473452 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1129+246G>A SNV Uncertain significance 638476 6:74190095-74190095 6:73480372-73480372 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.97C>T (p.Arg33Trp) SNV Uncertain significance 648658 6:74171674-74171674 6:73461951-73461951 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.496G>A (p.Glu166Lys) SNV Uncertain significance 665725 6:74176290-74176290 6:73466567-73466567 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.917A>G (p.Lys306Arg) SNV Uncertain significance 652866 6:74189546-74189546 6:73479823-73479823 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1147G>A (p.Asp383Asn) SNV Uncertain significance 655080 6:74190415-74190415 6:73480692-73480692 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1510G>A (p.Ala504Thr) SNV Uncertain significance 641163 6:74192216-74192216 6:73482493-73482493 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1702C>G (p.Pro568Ala) SNV Uncertain significance 650584 6:74202021-74202021 6:73492298-73492298 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1906C>T (p.Arg636Cys) SNV Uncertain significance 648030 6:74207608-74207608 6:73497885-73497885 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1907G>A (p.Arg636His) SNV Uncertain significance 664297 6:74207609-74207609 6:73497886-73497886 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NC_000006.11:g.(?_74171568)_(74210468_?)dup duplication Uncertain significance 640995 6:74171568-74210468 6:73461845-73500745 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NC_000006.11:g.(?_74171568)_(74202085_?)dup duplication Uncertain significance 641565 6:74171568-74202085 6:73461845-73492362 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.61C>T (p.Pro21Ser) SNV Uncertain significance 408277 rs753873871 6:74171638-74171638 6:73461915-73461915 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1194G>T (p.Leu398Phe) SNV Uncertain significance 408276 rs772209676 6:74190462-74190462 6:73480739-73480739 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.547A>G (p.Thr183Ala) SNV Uncertain significance 408274 rs779108851 6:74183099-74183099 6:73473376-73473376 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1291C>T (p.Arg431Trp) SNV Uncertain significance 408273 rs748328322 6:74191793-74191793 6:73482070-73482070 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.70C>T (p.Arg24Trp) SNV Uncertain significance 408275 rs368723563 6:74171647-74171647 6:73461924-73461924 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.2036A>G (p.Gln679Arg) SNV Uncertain significance 540424 rs1418465267 6:74210415-74210415 6:73500692-73500692 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.983G>A (p.Arg328His) SNV Uncertain significance 473197 rs142148270 6:74189703-74189703 6:73479980-73479980 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1260+191G>A SNV Uncertain significance 488182 rs1241914180 6:74190719-74190719 6:73480996-73480996 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1260+193C>A SNV Uncertain significance 488183 rs1554149118 6:74190721-74190721 6:73480998-73480998 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.535+5G>A SNV Uncertain significance 846664 6:74176334-74176334 6:73466611-73466611 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1996C>T (p.Arg666Ter) SNV Uncertain significance 547882 rs200217371 6:74210375-74210375 6:73500652-73500652 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1339A>G (p.Ile447Val) SNV Uncertain significance 577330 rs747475822 6:74191841-74191841 6:73482118-73482118 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1480G>A (p.Gly494Ser) SNV Uncertain significance 569553 rs139449947 6:74192186-74192186 6:73482463-73482463 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1292G>A (p.Arg431Gln) SNV Uncertain significance 852190 6:74191794-74191794 6:73482071-73482071 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1391G>A (p.Arg464His) SNV Uncertain significance 835604 6:74191893-74191893 6:73482170-73482170 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1609A>G (p.Ile537Val) SNV Uncertain significance 850387 6:74192315-74192315 6:73482592-73482592 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1725T>G (p.Cys575Trp) SNV Uncertain significance 837793 6:74202044-74202044 6:73492321-73492321 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1868C>T (p.Ser623Phe) SNV Uncertain significance 859840 6:74207570-74207570 6:73497847-73497847 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.919G>A (p.Glu307Lys) SNV Uncertain significance 70511 rs138469662 6:74189548-74189548 6:73479825-73479825 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1222A>G (p.Ile408Val) SNV Uncertain significance 240846 rs149407452 6:74190490-74190490 6:73480767-73480767 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1717A>T (p.Thr573Ser) SNV Uncertain significance 240848 rs774500449 6:74202036-74202036 6:73492313-73492313 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1549G>A (p.Val517Met) SNV Likely benign 240847 rs139608228 6:74192255-74192255 6:73482532-73482532 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.620C>T (p.Thr207Met) SNV Likely benign 240849 rs139334277 6:74183172-74183172 6:73473449-73473449 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.922A>G (p.Thr308Ala) SNV Likely benign 240850 rs145043138 6:74189551-74189551 6:73479828-73479828 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1082T>C (p.Met361Thr) SNV Likely benign 473195 rs145658455 6:74189802-74189802 6:73480079-73480079 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.252C>T (p.Ile84=) SNV Likely benign 414888 rs374384468 6:74175966-74175966 6:73466243-73466243 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.2064A>G (p.Gln688=) SNV Likely benign 414887 rs372208655 6:74210443-74210443 6:73500720-73500720 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1827A>G (p.Gln609=) SNV Likely benign 473196 rs1554150837 6:74207529-74207529 6:73497806-73497806 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.693G>T (p.Val231=) SNV Likely benign 700540 6:74183245-74183245 6:73473522-73473522 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1650T>C (p.Val550=) SNV Likely benign 702421 6:74201969-74201969 6:73492246-73492246 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1051A>G (p.Met351Val) SNV Benign/Likely benign 240845 rs144075994 6:74189771-74189771 6:73480048-73480048 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1086C>G (p.Ile362Met) SNV Benign/Likely benign 414886 rs147329295 6:74189806-74189806 6:73480083-73480083 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1368T>C (p.Thr456=) SNV Benign 138275 rs115654622 6:74191870-74191870 6:73482147-73482147 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1785A>G (p.Gln595=) SNV Benign 138276 rs147990749 6:74207487-74207487 6:73497764-73497764 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1894C>T (p.Leu632=) SNV Benign 138277 rs117757245 6:74207596-74207596 6:73497873-73497873 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.1918-7T>G SNV Benign 138278 rs73452515 6:74210290-74210290 6:73500567-73500567 CMB025 Combined Oxidative Phosphorylation Deficiency 10 MTO1 NM_012123.4(MTO1):c.176G>C (p.Gly59Ala) SNV Benign 540425 rs201279883 6:74171753-74171753 6:73462030-73462030 CMB025 Combined Oxidative Phosphorylation Deficiency 10 RMND1 NM_017909.4(RMND1):c.504+1G>A SNV Pathogenic 39764 rs1562800908 6:151766442-151766442 6:151445307-151445307 CMB046 Combined Oxidative Phosphorylation Deficiency 11 RMND1 NM_017909.4(RMND1):c.1250G>A (p.Arg417Gln) SNV Pathogenic 39765 rs397515421 6:151726922-151726922 6:151405787-151405787 CMB046 Combined Oxidative Phosphorylation Deficiency 11 RMND1 NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser) SNV Pathogenic 143051 rs115079861 6:151726371-151726371 6:151405236-151405236 CMB046 Combined Oxidative Phosphorylation Deficiency 11 RMND1 NM_017909.4(RMND1):c.613G>T (p.Asp205Tyr) SNV Pathogenic 242631 rs606231472 6:151757581-151757581 6:151436446-151436446 CMB046 Combined Oxidative Phosphorylation Deficiency 11 RMND1 NM_017909.3(RMND1):c.1003del (p.Ala335Leufs) deletion Pathogenic 374907 rs1057519299 6:151742456-151742456 6:151421321-151421321 CMB046 Combined Oxidative Phosphorylation Deficiency 11 RMND1 NM_017909.4(RMND1):c.388del (p.Val130fs) deletion Likely pathogenic 802282 6:151766559-151766559 6:151445424-151445424 CMB046 Combined Oxidative Phosphorylation Deficiency 11 RMND1 NM_017909.4(RMND1):c.727del (p.Thr243fs) deletion Likely pathogenic 804397 6:151751275-151751275 6:151430140-151430140 CMB046 Combined Oxidative Phosphorylation Deficiency 11 RMND1 NM_017909.4(RMND1):c.713A>G (p.Asn238Ser) SNV Conflicting interpretations of pathogenicity 225255 rs144972972 6:151751289-151751289 6:151430154-151430154 CMB046 Combined Oxidative Phosphorylation Deficiency 11 RMND1 NM_017909.4(RMND1):c.1085G>A (p.Arg362His) SNV Uncertain significance 440932 rs142588921 6:151738529-151738529 6:151417394-151417394 CMB046 Combined Oxidative Phosphorylation Deficiency 11 RMND1 NM_017909.4(RMND1):c.1286A>T (p.Glu429Val) SNV Uncertain significance 666266 6:151726886-151726886 6:151405751-151405751 CMB046 Combined Oxidative Phosphorylation Deficiency 11 RMND1 NM_017909.4(RMND1):c.1049T>C (p.Met350Thr) SNV Uncertain significance 666265 6:151742410-151742410 6:151421275-151421275 CMB046 Combined Oxidative Phosphorylation Deficiency 11 RMND1 NM_017909.4(RMND1):c.920A>G (p.Asn307Ser) SNV Uncertain significance 801002 6:151744677-151744677 6:151423542-151423542 CMB046 Combined Oxidative Phosphorylation Deficiency 11 SLC25A26 NM_173471.3(SLC25A26):c.443T>G (p.Val148Gly) SNV Pathogenic 222006 rs869025313 3:66313793-66313793 3:66263369-66263369 CMB072 Combined Oxidative Phosphorylation Deficiency 28 SLC25A26 NM_173471.3(SLC25A26):c.305C>T (p.Ala102Val) SNV Pathogenic 222007 rs869025314 3:66312479-66312479 3:66262055-66262055 CMB072 Combined Oxidative Phosphorylation Deficiency 28 SLC25A26 NM_173471.3(SLC25A26):c.596C>T (p.Pro199Leu) SNV Pathogenic 222008 rs869025315 3:66419929-66419929 3:66369505-66369505 CMB072 Combined Oxidative Phosphorylation Deficiency 28 SLC25A26 NM_173471.3(SLC25A26):c.33+1G>A SNV Pathogenic 222009 rs781798317 3:66271554-66271554 3:66221128-66221128 CMB072 Combined Oxidative Phosphorylation Deficiency 28 TSFM NM_005726.6(TSFM):c.934C>T (p.Arg312Trp) SNV Pathogenic 5379 rs121909485 12:58190322-58190322 12:57796539-57796539 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.944G>A (p.Cys315Tyr) SNV Likely pathogenic 155719 rs587777688 12:58190332-58190332 12:57796549-57796549 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.57+4A>G SNV Conflicting interpretations of pathogenicity 155720 rs587777689 12:58176645-58176645 12:57782862-57782862 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.361-12T>G SNV Conflicting interpretations of pathogenicity 137763 rs368313488 12:58180811-58180811 12:57787028-57787028 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.24C>T (p.Arg8=) SNV Conflicting interpretations of pathogenicity 137764 rs138461986 12:58176608-58176608 12:57782825-57782825 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.856C>T (p.Gln286Ter) SNV Conflicting interpretations of pathogenicity 155718 rs201754030 12:58190244-58190244 12:57796461-57796461 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.644C>T (p.Ser215Phe) SNV Conflicting interpretations of pathogenicity 418526 rs376562033 12:58190032-58190032 12:57796249-57796249 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.797T>A (p.Leu266His) SNV Conflicting interpretations of pathogenicity 559172 rs146777264 12:58190185-58190185 12:57796402-57796402 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.539G>C (p.Gly180Ala) SNV Conflicting interpretations of pathogenicity 310016 rs138534976 12:58186824-58186824 12:57793041-57793041 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.408G>A (p.Leu136=) SNV Conflicting interpretations of pathogenicity 310013 rs144109380 12:58180870-58180870 12:57787087-57787087 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.816C>T (p.Asp272=) SNV Conflicting interpretations of pathogenicity 310020 rs183575246 12:58190204-58190204 12:57796421-57796421 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.69T>A (p.Leu23=) SNV Conflicting interpretations of pathogenicity 310007 rs147317818 12:58176904-58176904 12:57783121-57783121 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.760C>T (p.Arg254Cys) SNV Conflicting interpretations of pathogenicity 310018 rs200132571 12:58190148-58190148 12:57796365-57796365 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.814G>C (p.Asp272His) SNV Uncertain significance 310019 rs138911653 12:58190202-58190202 12:57796419-57796419 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.*412C>T SNV Uncertain significance 310025 rs184926061 12:58190778-58190778 12:57796995-57796995 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.*561A>C SNV Uncertain significance 310027 rs886049734 12:58190927-58190927 12:57797144-57797144 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.361-14A>G SNV Uncertain significance 310011 rs759604491 12:58180809-58180809 12:57787026-57787026 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.375A>G (p.Thr125=) SNV Uncertain significance 310012 rs886049730 12:58180837-58180837 12:57787054-57787054 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.484-11C>T SNV Uncertain significance 310014 rs752312466 12:58186758-58186758 12:57792975-57792975 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.520G>T (p.Ala174Ser) SNV Uncertain significance 310015 rs886049731 12:58186805-58186805 12:57793022-57793022 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.688G>T (p.Val230Leu) SNV Uncertain significance 310017 rs151248026 12:58190076-58190076 12:57796293-57796293 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.*182T>G SNV Uncertain significance 310022 rs188261377 12:58190548-58190548 12:57796765-57796765 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.*461T>C SNV Uncertain significance 310026 rs886049733 12:58190827-58190827 12:57797044-57797044 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.*895A>G SNV Uncertain significance 310028 rs58949411 12:58191261-58191261 12:57797478-57797478 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.*20C>T SNV Uncertain significance 310021 rs886049732 12:58190386-58190386 12:57796603-57796603 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.232-8A>G SNV Uncertain significance 310008 rs768661125 12:58179938-58179938 12:57786155-57786155 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.*210G>A SNV Uncertain significance 310023 rs112956536 12:58190576-58190576 12:57796793-57796793 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.*262T>A SNV Uncertain significance 310024 rs758314098 12:58190628-58190628 12:57796845-57796845 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.48G>A (p.Gly16=) SNV Uncertain significance 883314 12:58176632-58176632 12:57782849-57782849 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.140A>G (p.Lys47Arg) SNV Uncertain significance 883315 12:58176975-58176975 12:57783192-57783192 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.322G>A (p.Gly108Arg) SNV Uncertain significance 883316 12:58180036-58180036 12:57786253-57786253 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.787A>T (p.Met263Leu) SNV Uncertain significance 882314 12:58190175-58190175 12:57796392-57796392 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.*98A>G SNV Uncertain significance 882315 12:58190464-58190464 12:57796681-57796681 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.*176T>C SNV Uncertain significance 882581 12:58190542-58190542 12:57796759-57796759 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.*291T>C SNV Uncertain significance 882582 12:58190657-58190657 12:57796874-57796874 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.*381C>T SNV Uncertain significance 882583 12:58190747-58190747 12:57796964-57796964 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.*491G>A SNV Uncertain significance 883367 12:58190857-58190857 12:57797074-57797074 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.*554A>G SNV Uncertain significance 883368 12:58190920-58190920 12:57797137-57797137 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.*558C>T SNV Uncertain significance 883369 12:58190924-58190924 12:57797141-57797141 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.*656A>G SNV Uncertain significance 883370 12:58191022-58191022 12:57797239-57797239 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.*866T>G SNV Uncertain significance 883371 12:58191232-58191232 12:57797449-57797449 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.271T>G (p.Trp91Gly) SNV Likely benign 310010 rs542571914 12:58179985-58179985 12:57786202-57786202 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.754G>A (p.Val252Ile) SNV Benign/Likely benign 137761 rs114694283 12:58190142-58190142 12:57796359-57796359 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.796C>A (p.Leu266Ile) SNV Benign/Likely benign 235467 rs62000432 12:58190184-58190184 12:57796401-57796401 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.5C>T (p.Ser2Leu) SNV Benign 703844 12:58176589-58176589 12:57782806-57782806 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.30T>C (p.Phe10=) SNV Benign 310006 rs10747783 12:58176614-58176614 12:57782831-57782831 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.*997G>C SNV Benign 310030 rs114214463 12:58191363-58191363 12:57797580-57797580 CMB014 Combined Oxidative Phosphorylation Deficiency 3 TSFM NM_005726.6(TSFM):c.*958C>G SNV Benign 310029 rs57561819 12:58191324-58191324 12:57797541-57797541 CMB014 Combined Oxidative Phosphorylation Deficiency 3 AIFM1 NM_004208.4(AIFM1):c.923G>A (p.Gly308Glu) SNV Pathogenic 732658 X:129272612-129272612 X:130138637-130138637 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.1013G>A (p.Gly338Glu) SNV Pathogenic 732668 X:129271115-129271115 X:130137140-130137140 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.727G>T (p.Val243Leu) SNV Pathogenic 732675 X:129274562-129274562 X:130140587-130140587 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.603_605del (p.Arg201del) deletion Pathogenic 11546 rs387906500 X:129281468-129281470 X:130147493-130147495 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.1436A>G (p.Gln479Arg) SNV Pathogenic 369972 rs1057516211 X:129267300-129267300 X:130133325-130133325 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.1047C>T (p.Ser349=) SNV Conflicting interpretations of pathogenicity 214080 rs781350745 X:129271081-129271081 X:130137106-130137106 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln) SNV Conflicting interpretations of pathogenicity 214082 rs752742151 X:129281749-129281749 X:130147774-130147774 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.340G>A (p.Ala114Thr) SNV Conflicting interpretations of pathogenicity 857026 X:129283453-129283453 X:130149478-130149478 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.1355T>C (p.Val452Ala) SNV Uncertain significance 912874 X:129267381-129267381 X:130133406-130133406 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) SNV Uncertain significance 445310 rs201711375 X:129290514-129290514 X:130156540-130156540 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.248A>G (p.Tyr83Cys) SNV Uncertain significance 914370 X:129290436-129290436 X:130156462-130156462 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.-90G>C SNV Uncertain significance 914371 X:129299720-129299720 X:130165746-130165746 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.858+13T>G SNV Uncertain significance 913253 X:129273757-129273757 X:130139782-130139782 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.697-4C>T SNV Uncertain significance 913254 X:129274596-129274596 X:130140621-130140621 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.-185G>A SNV Uncertain significance 367897 rs770317876 X:129299815-129299815 X:130165841-130165841 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.*49C>T SNV Uncertain significance 367888 rs1057515766 X:129263483-129263483 X:130129508-130129508 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.-140C>G SNV Uncertain significance 367895 rs770737305 X:129299770-129299770 X:130165796-130165796 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.1647A>G (p.Ala549=) SNV Uncertain significance 367889 rs1057515767 X:129264068-129264068 X:130130093-130130093 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.1644G>A (p.Pro548=) SNV Benign/Likely benign 377456 rs150821143 X:129264071-129264071 X:130130096-130130096 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.366A>G (p.Glu122=) SNV Benign/Likely benign 367891 rs756883753 X:129281835-129281835 X:130147860-130147860 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.72C>T (p.Cys24=) SNV Benign/Likely benign 367894 rs373609902 X:129299559-129299559 X:130165585-130165585 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.1329C>T (p.Tyr443=) SNV Benign/Likely benign 136323 rs143792929 X:129267407-129267407 X:130133432-130133432 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.1416T>C (p.Ala472=) SNV Benign 136324 rs141324245 X:129267320-129267320 X:130133345-130133345 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.1833T>C (p.His611=) SNV Benign 136325 rs73556209 X:129263541-129263541 X:130129566-130129566 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.103C>T (p.Pro35Ser) SNV Benign 136326 rs61730896 X:129299528-129299528 X:130165554-130165554 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.918C>T (p.Ile306=) SNV Benign 136320 rs12014115 X:129272617-129272617 X:130138642-130138642 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.996A>G (p.Gln332=) SNV Benign 136322 rs12007545 X:129271132-129271132 X:130137157-130137157 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.968-14T>A SNV Benign 912875 X:129271174-129271174 X:130137199-130137199 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.1227T>G (p.Thr409=) SNV Benign 543932 rs61730898 X:129270098-129270098 X:130136123-130136123 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.597A>G (p.Lys199=) SNV Benign 913255 X:129281476-129281476 X:130147501-130147501 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.606-15C>T SNV Benign 367890 rs191297808 X:129279559-129279559 X:130145584-130145584 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.273T>C (p.Asp91=) SNV Benign 367892 rs1139851 X:129283520-129283520 X:130149545-130149545 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.-165G>A SNV Benign 367896 rs759015293 X:129299795-129299795 X:130165821-130165821 CMB017 Combined Oxidative Phosphorylation Deficiency 6 AIFM1 NM_004208.4(AIFM1):c.262A>G (p.Met88Val) SNV Benign 367893 rs750098055 X:129283531-129283531 X:130149556-130149556 CMB017 Combined Oxidative Phosphorylation Deficiency 6 C12orf65 NM_152269.5(C12orf65):c.33dup (p.Pro12fs) duplication Pathogenic 859045 12:123738253-123738254 12:123253706-123253707 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.307del (p.Gln103fs) deletion Pathogenic 834522 12:123741384-123741384 12:123256837-123256837 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 GRCh37/hg19 12q24.31(chr12:123738222-123738503) copy number loss Pathogenic 813299 12:123738222-123738503 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.96_99dup (p.Pro34fs) duplication Pathogenic 214192 rs863223926 12:123738316-123738317 12:123253769-123253770 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.248del (p.Val83fs) deletion Pathogenic/Likely pathogenic 53 rs587776508 12:123738469-123738469 12:123253922-123253922 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.210del (p.Gly72fs) deletion Pathogenic/Likely pathogenic 54 rs576462794 12:123738431-123738431 12:123253884-123253884 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.243C>T (p.Cys81=) SNV Conflicting interpretations of pathogenicity 136595 rs140411575 12:123738464-123738464 12:123253917-123253917 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.413A>G (p.Lys138Arg) SNV Conflicting interpretations of pathogenicity 136596 rs147328685 12:123741490-123741490 12:123256943-123256943 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NC_000012.12:g.(?_123253665)_(123257041_?)dup duplication Uncertain significance 832824 12:123738212-123741588 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.347T>C (p.Val116Ala) SNV Uncertain significance 547960 rs374464556 12:123741424-123741424 12:123256877-123256877 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.257A>T (p.His86Leu) SNV Uncertain significance 582973 rs1565998038 12:123738478-123738478 12:123253931-123253931 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.326G>A (p.Arg109Gln) SNV Uncertain significance 662218 12:123741403-123741403 12:123256856-123256856 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.419A>G (p.Glu140Gly) SNV Uncertain significance 645919 12:123741496-123741496 12:123256949-123256949 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NC_000012.12:g.123233394T>C SNV Uncertain significance 882665 12:123717941-123717941 12:123233394-123233394 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NC_000012.12:g.123233428A>G SNV Uncertain significance 882666 12:123717975-123717975 12:123233428-123233428 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.-51C>T SNV Uncertain significance 882667 12:123718056-123718056 12:123233509-123233509 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.181G>A (p.Glu61Lys) SNV Uncertain significance 883440 12:123738402-123738402 12:123253855-123253855 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.304G>A (p.Asp102Asn) SNV Uncertain significance 883441 12:123741381-123741381 12:123256834-123256834 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.336A>G (p.Leu112=) SNV Uncertain significance 883442 12:123741413-123741413 12:123256866-123256866 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.353T>C (p.Val118Ala) SNV Uncertain significance 883443 12:123741430-123741430 12:123256883-123256883 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.486T>G (p.Ser162Arg) SNV Uncertain significance 881087 12:123741563-123741563 12:123257016-123257016 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.*13A>C SNV Uncertain significance 881088 12:123741591-123741591 12:123257044-123257044 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.*159G>A SNV Uncertain significance 881089 12:123741737-123741737 12:123257190-123257190 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.*195G>A SNV Uncertain significance 881090 12:123741773-123741773 12:123257226-123257226 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.*212G>A SNV Uncertain significance 881552 12:123741790-123741790 12:123257243-123257243 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.*374A>G SNV Uncertain significance 881553 12:123741952-123741952 12:123257405-123257405 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.*439C>T SNV Uncertain significance 881554 12:123742017-123742017 12:123257470-123257470 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.*647G>C SNV Uncertain significance 882714 12:123742225-123742225 12:123257678-123257678 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.*761G>A SNV Uncertain significance 882715 12:123742339-123742339 12:123257792-123257792 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.*809A>C SNV Uncertain significance 883490 12:123742387-123742387 12:123257840-123257840 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.*853C>G SNV Uncertain significance 883491 12:123742431-123742431 12:123257884-123257884 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.*869T>C SNV Uncertain significance 883492 12:123742447-123742447 12:123257900-123257900 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.*887T>A SNV Uncertain significance 883493 12:123742465-123742465 12:123257918-123257918 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.*139A>C SNV Uncertain significance 307500 rs886049041 12:123741717-123741717 12:123257170-123257170 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.*468C>T SNV Uncertain significance 307506 rs886049043 12:123742046-123742046 12:123257499-123257499 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.*747G>A SNV Uncertain significance 307513 rs886049048 12:123742325-123742325 12:123257778-123257778 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.90G>A (p.Thr30=) SNV Uncertain significance 307496 rs775127232 12:123738311-123738311 12:123253764-123253764 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.112G>A (p.Val38Ile) SNV Uncertain significance 307497 rs146534475 12:123738333-123738333 12:123253786-123253786 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.*211C>T SNV Uncertain significance 307503 rs749221383 12:123741789-123741789 12:123257242-123257242 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.4(C12orf65):c.-206G>T SNV Uncertain significance 307492 rs886049038 12:123717901-123717901 12:123233354-123233354 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.4(C12orf65):c.-128C>T SNV Uncertain significance 307493 rs886049039 12:123717979-123717979 12:123233432-123233432 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.34C>T (p.Pro12Ser) SNV Uncertain significance 307494 rs751310720 12:123738255-123738255 12:123253708-123253708 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.56C>T (p.Ala19Val) SNV Uncertain significance 307495 rs140452371 12:123738277-123738277 12:123253730-123253730 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.*143G>T SNV Uncertain significance 307501 rs886049042 12:123741721-123741721 12:123257174-123257174 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.*674A>G SNV Uncertain significance 307509 rs886049044 12:123742252-123742252 12:123257705-123257705 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.*454A>C SNV Likely benign 307505 rs76029248 12:123742032-123742032 12:123257485-123257485 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.54G>A (p.Pro18=) SNV Likely benign 697230 12:123738275-123738275 12:123253728-123253728 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.246G>A (p.Val82=) SNV Likely benign 747727 12:123738467-123738467 12:123253920-123253920 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.*128C>A SNV Likely benign 307499 rs11554169 12:123741706-123741706 12:123257159-123257159 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.*354G>A SNV Likely benign 307504 rs11057214 12:123741932-123741932 12:123257385-123257385 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.468A>G (p.Lys156=) SNV Benign/Likely benign 517075 rs147972301 12:123741545-123741545 12:123256998-123256998 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.309G>A (p.Gln103=) SNV Benign 698233 12:123741386-123741386 12:123256839-123256839 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.*483G>A SNV Benign 307507 rs1969355 12:123742061-123742061 12:123257514-123257514 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.*515T>G SNV Benign 307508 rs1533703 12:123742093-123742093 12:123257546-123257546 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.44G>A (p.Arg15Gln) SNV Benign 128535 rs78651634 12:123738265-123738265 12:123253718-123253718 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.*198T>C SNV Benign 307502 rs1969354 12:123741776-123741776 12:123257229-123257229 CMB018 Combined Oxidative Phosphorylation Deficiency 7 C12orf65 NM_152269.5(C12orf65):c.273C>T (p.Ile91=) SNV Benign 262628 rs2280424 12:123738494-123738494 12:123253947-123253947 CMB018 Combined Oxidative Phosphorylation Deficiency 7 AARS2 NM_020745.4(AARS2):c.2027A>C (p.Gln676Pro) SNV Pathogenic 623387 rs1561938413 6:44271141-44271141 6:44303404-44303404 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2356G>A (p.Ala786Thr) SNV Pathogenic 488461 rs1554147776 6:44270547-44270547 6:44302810-44302810 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.464T>G (p.Leu155Arg) SNV Pathogenic 30941 rs387907061 6:44279244-44279244 6:44311507-44311507 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.647dup (p.Cys218fs) duplication Pathogenic 143044 rs587777589 6:44278832-44278833 6:44311095-44311096 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.1561C>T (p.Arg521Ter) SNV Pathogenic 143046 rs587777591 6:44272809-44272809 6:44305072-44305072 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp) SNV Pathogenic/Likely pathogenic 30940 rs138119149 6:44272249-44272249 6:44304512-44304512 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2531T>C (p.Leu844Pro) SNV Likely pathogenic 807356 6:44269864-44269864 6:44302127-44302127 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2599-1G>A SNV Likely pathogenic 873458 6:44269202-44269202 6:44301465-44301465 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2683-10C>T SNV Conflicting interpretations of pathogenicity 721782 6:44269013-44269013 6:44301276-44301276 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.1434+7G>A SNV Conflicting interpretations of pathogenicity 510665 rs953512104 6:44273383-44273383 6:44305646-44305646 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.750-5G>A SNV Conflicting interpretations of pathogenicity 136224 rs78410483 6:44278185-44278185 6:44310448-44310448 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2162T>C (p.Val721Ala) SNV Conflicting interpretations of pathogenicity 213971 rs775065697 6:44270896-44270896 6:44303159-44303159 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.268G>C (p.Val90Leu) SNV Conflicting interpretations of pathogenicity 213948 rs863223860 6:44279976-44279976 6:44312239-44312239 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.1192G>A (p.Ala398Thr) SNV Conflicting interpretations of pathogenicity 213953 rs202171981 6:44274125-44274125 6:44306388-44306388 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.1162C>T (p.Pro388Ser) SNV Conflicting interpretations of pathogenicity 213968 rs139372744 6:44274257-44274257 6:44306520-44306520 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.1534G>C (p.Asp512His) SNV Conflicting interpretations of pathogenicity 357070 rs146512155 6:44272836-44272836 6:44305099-44305099 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2679C>T (p.Leu893=) SNV Conflicting interpretations of pathogenicity 357058 rs766642839 6:44269121-44269121 6:44301384-44301384 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*9C>T SNV Conflicting interpretations of pathogenicity 357054 rs772455600 6:44268275-44268275 6:44300538-44300538 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.1569C>T (p.Ser523=) SNV Conflicting interpretations of pathogenicity 357069 rs374173311 6:44272801-44272801 6:44305064-44305064 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.1084A>T (p.Met362Leu) SNV Conflicting interpretations of pathogenicity 357073 rs147091256 6:44274725-44274725 6:44306988-44306988 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.985C>T (p.Arg329Cys) SNV Conflicting interpretations of pathogenicity 357074 rs200187887 6:44275041-44275041 6:44307304-44307304 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.761G>C (p.Gly254Ala) SNV Conflicting interpretations of pathogenicity 357080 rs199919912 6:44278169-44278169 6:44310432-44310432 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2598+11G>A SNV Conflicting interpretations of pathogenicity 389042 rs376223052 6:44269786-44269786 6:44302049-44302049 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2202G>A (p.Leu734=) SNV Uncertain significance 357061 rs886061486 6:44270856-44270856 6:44303119-44303119 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2266C>T (p.Arg756Cys) SNV Uncertain significance 357060 rs753324375 6:44270637-44270637 6:44302900-44302900 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.1682G>C (p.Arg561Thr) SNV Uncertain significance 357066 rs886061488 6:44272452-44272452 6:44304715-44304715 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2132G>A (p.Arg711His) SNV Uncertain significance 357063 rs752743037 6:44271036-44271036 6:44303299-44303299 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*1706C>T SNV Uncertain significance 357025 rs767571924 6:44266578-44266578 6:44298841-44298841 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*1252A>C SNV Uncertain significance 357036 rs886061482 6:44267032-44267032 6:44299295-44299295 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*982G>A SNV Uncertain significance 357039 rs192274662 6:44267302-44267302 6:44299565-44299565 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*718C>A SNV Uncertain significance 357042 rs140359685 6:44267566-44267566 6:44299829-44299829 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*1549C>T SNV Uncertain significance 357029 rs886061480 6:44266735-44266735 6:44298998-44298998 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*394C>A SNV Uncertain significance 357047 rs545769603 6:44267890-44267890 6:44300153-44300153 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*279G>A SNV Uncertain significance 357051 rs886061483 6:44268005-44268005 6:44300268-44300268 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*256A>G SNV Uncertain significance 357053 rs182434401 6:44268028-44268028 6:44300291-44300291 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.1644C>T (p.Ser548=) SNV Uncertain significance 357068 rs377764395 6:44272490-44272490 6:44304753-44304753 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.879C>T (p.Leu293=) SNV Uncertain significance 357077 rs886061489 6:44278051-44278051 6:44310314-44310314 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.872C>T (p.Pro291Leu) SNV Uncertain significance 357078 rs199985183 6:44278058-44278058 6:44310321-44310321 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.785G>A (p.Arg262Gln) SNV Uncertain significance 357079 rs139974034 6:44278145-44278145 6:44310408-44310408 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.25G>A (p.Ala9Thr) SNV Uncertain significance 357083 rs537231845 6:44281036-44281036 6:44313299-44313299 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.22G>T (p.Ala8Ser) SNV Uncertain significance 357084 rs886061491 6:44281039-44281039 6:44313302-44313302 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2146-11C>T SNV Uncertain significance 357062 rs886061487 6:44270923-44270923 6:44303186-44303186 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2860G>A (p.Ala954Thr) SNV Uncertain significance 357056 rs771293152 6:44268382-44268382 6:44300645-44300645 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2794G>A (p.Gly932Ser) SNV Uncertain significance 357057 rs886061485 6:44268448-44268448 6:44300711-44300711 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.1444C>T (p.Arg482Trp) SNV Uncertain significance 357071 rs749519355 6:44272926-44272926 6:44305189-44305189 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.967G>A (p.Val323Met) SNV Uncertain significance 357075 rs770774995 6:44275059-44275059 6:44307322-44307322 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*1811C>T SNV Uncertain significance 357021 rs546498237 6:44266473-44266473 6:44298736-44298736 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*1720C>T SNV Uncertain significance 357022 rs140886261 6:44266564-44266564 6:44298827-44298827 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*1603C>G SNV Uncertain significance 357027 rs886061479 6:44266681-44266681 6:44298944-44298944 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*753C>G SNV Uncertain significance 357041 rs751745102 6:44267531-44267531 6:44299794-44299794 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*997G>T SNV Uncertain significance 357038 rs146753959 6:44267287-44267287 6:44299550-44299550 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*408G>C SNV Uncertain significance 357046 rs780339845 6:44267876-44267876 6:44300139-44300139 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*262T>C SNV Uncertain significance 357052 rs886061484 6:44268022-44268022 6:44300285-44300285 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.915C>T (p.Tyr305=) SNV Uncertain significance 357076 rs778966995 6:44275111-44275111 6:44307374-44307374 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.408T>C (p.Asn136=) SNV Uncertain significance 357081 rs886061490 6:44279836-44279836 6:44312099-44312099 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*1485G>A SNV Uncertain significance 357030 rs886061481 6:44266799-44266799 6:44299062-44299062 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2701C>T (p.Arg901Trp) SNV Uncertain significance 235275 rs145086947 6:44268985-44268985 6:44301248-44301248 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2165G>A (p.Arg722Gln) SNV Uncertain significance 281937 rs566667883 6:44270893-44270893 6:44303156-44303156 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.1649G>C (p.Gly550Ala) SNV Uncertain significance 213956 rs79962181 6:44272485-44272485 6:44304748-44304748 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.1621G>A (p.Glu541Lys) SNV Uncertain significance 213955 rs142094090 6:44272513-44272513 6:44304776-44304776 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.1660C>T (p.Arg554Cys) SNV Uncertain significance 203376 rs146924860 6:44272474-44272474 6:44304737-44304737 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2551C>G (p.Leu851Val) SNV Uncertain significance 213959 rs376103315 6:44269844-44269844 6:44302107-44302107 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*1471C>T SNV Uncertain significance 910888 6:44266813-44266813 6:44299076-44299076 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*1326A>G SNV Uncertain significance 912111 6:44266958-44266958 6:44299221-44299221 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*1310T>C SNV Uncertain significance 912112 6:44266974-44266974 6:44299237-44299237 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*1293A>G SNV Uncertain significance 912113 6:44266991-44266991 6:44299254-44299254 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*1197C>T SNV Uncertain significance 912114 6:44267087-44267087 6:44299350-44299350 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*1045G>A SNV Uncertain significance 912115 6:44267239-44267239 6:44299502-44299502 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*1536G>C SNV Uncertain significance 910886 6:44266748-44266748 6:44299011-44299011 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.1387C>T (p.Gln463Ter) SNV Uncertain significance 632486 rs1561940254 6:44273437-44273437 6:44305700-44305700 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2683-1G>T SNV Uncertain significance 632485 rs374185049 6:44269004-44269004 6:44301267-44301267 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.1040+1G>A SNV Uncertain significance 632487 rs1561941287 6:44274985-44274985 6:44307248-44307248 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*752G>C SNV Uncertain significance 908108 6:44267532-44267532 6:44299795-44299795 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*683C>G SNV Uncertain significance 908109 6:44267601-44267601 6:44299864-44299864 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*627G>A SNV Uncertain significance 908110 6:44267657-44267657 6:44299920-44299920 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*448G>T SNV Uncertain significance 910056 6:44267836-44267836 6:44300099-44300099 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*317G>A SNV Uncertain significance 910956 6:44267967-44267967 6:44300230-44300230 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*155C>T SNV Uncertain significance 910957 6:44268129-44268129 6:44300392-44300392 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*51T>C SNV Uncertain significance 912180 6:44268233-44268233 6:44300496-44300496 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2937C>G (p.Thr979=) SNV Uncertain significance 912181 6:44268305-44268305 6:44300568-44300568 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2701C>G (p.Arg901Gly) SNV Uncertain significance 908171 6:44268985-44268985 6:44301248-44301248 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2671G>A (p.Glu891Lys) SNV Uncertain significance 908172 6:44269129-44269129 6:44301392-44301392 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2636C>G (p.Ser879Trp) SNV Uncertain significance 908173 6:44269164-44269164 6:44301427-44301427 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2297T>G (p.Ile766Ser) SNV Uncertain significance 910126 6:44270606-44270606 6:44302869-44302869 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2221G>A (p.Ala741Thr) SNV Uncertain significance 911017 6:44270837-44270837 6:44303100-44303100 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2005C>A (p.Gln669Lys) SNV Uncertain significance 912247 6:44271920-44271920 6:44304183-44304183 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.1788T>C (p.Cys596=) SNV Uncertain significance 912248 6:44272235-44272235 6:44304498-44304498 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.1533C>T (p.Asp511=) SNV Uncertain significance 908245 6:44272837-44272837 6:44305100-44305100 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.1474T>C (p.Leu492=) SNV Uncertain significance 908246 6:44272896-44272896 6:44305159-44305159 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.1191C>T (p.Ile397=) SNV Uncertain significance 910194 6:44274126-44274126 6:44306389-44306389 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.1049T>C (p.Leu350Pro) SNV Uncertain significance 911084 6:44274760-44274760 6:44307023-44307023 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.1041G>A (p.Pro347=) SNV Uncertain significance 911085 6:44274768-44274768 6:44307031-44307031 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.940G>A (p.Glu314Lys) SNV Uncertain significance 911086 6:44275086-44275086 6:44307349-44307349 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.426A>G (p.Glu142=) SNV Uncertain significance 908308 6:44279818-44279818 6:44312081-44312081 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.82C>G (p.Arg28Gly) SNV Uncertain significance 908309 6:44280979-44280979 6:44313242-44313242 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.60C>T (p.Pro20=) SNV Uncertain significance 909156 6:44281001-44281001 6:44313264-44313264 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.57G>C (p.Ser19=) SNV Uncertain significance 909157 6:44281004-44281004 6:44313267-44313267 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.750-9C>T SNV Uncertain significance 911292 6:44278189-44278189 6:44310452-44310452 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.435+9C>T SNV Uncertain significance 908307 6:44279800-44279800 6:44312063-44312063 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*1007A>G SNV Likely benign 912116 6:44267277-44267277 6:44299540-44299540 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.1661G>A (p.Arg554His) SNV Likely benign 357067 rs139280416 6:44272473-44272473 6:44304736-44304736 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.1196A>G (p.Asn399Ser) SNV Benign/Likely benign 136228 rs113433939 6:44274121-44274121 6:44306384-44306384 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.1398C>T (p.Ser466=) SNV Benign/Likely benign 136229 rs146711725 6:44273426-44273426 6:44305689-44305689 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2033G>A (p.Arg678Gln) SNV Benign/Likely benign 136213 rs150973108 6:44271135-44271135 6:44303398-44303398 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2629C>T (p.Arg877Trp) SNV Benign/Likely benign 136220 rs112247130 6:44269171-44269171 6:44301434-44301434 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2253G>A (p.Gly751=) SNV Benign/Likely benign 136215 rs78397386 6:44270805-44270805 6:44303068-44303068 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2426T>A (p.Leu809Gln) SNV Benign 136216 rs35967387 6:44270189-44270189 6:44302452-44302452 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2440G>A (p.Val814Met) SNV Benign 136217 rs111325758 6:44270175-44270175 6:44302438-44302438 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2548A>G (p.Met850Val) SNV Benign 136218 rs35783144 6:44269847-44269847 6:44302110-44302110 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.420G>A (p.Gly140=) SNV Benign 136222 rs75506489 6:44279824-44279824 6:44312087-44312087 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2188G>A (p.Val730Met) SNV Benign 136214 rs35623954 6:44270870-44270870 6:44303133-44303133 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.1412G>A (p.Arg471Gln) SNV Benign 136230 rs34530313 6:44273412-44273412 6:44305675-44305675 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.1752G>A (p.Glu584=) SNV Benign 136231 rs78525157 6:44272382-44272382 6:44304645-44304645 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.1753-13T>C SNV Benign 136232 rs80339975 6:44272283-44272283 6:44304546-44304546 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.861C>A (p.Asp287Glu) SNV Benign 136225 rs115815965 6:44278069-44278069 6:44310332-44310332 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*1576A>G SNV Benign 357028 rs1056092 6:44266708-44266708 6:44298971-44298971 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*1300C>T SNV Benign 357033 rs1123523 6:44266984-44266984 6:44299247-44299247 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.749+14G>A SNV Benign 213949 rs74709196 6:44278717-44278717 6:44310980-44310980 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.243+6G>A SNV Benign 357082 rs167772 6:44280812-44280812 6:44313075-44313075 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*1473G>T SNV Benign 910887 6:44266811-44266811 6:44299074-44299074 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*1719T>C SNV Benign 357023 rs79454687 6:44266565-44266565 6:44298828-44298828 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2871A>G (p.Ser957=) SNV Benign 357055 rs325008 6:44268371-44268371 6:44300634-44300634 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2607G>A (p.Lys869=) SNV Benign 357059 rs498512 6:44269193-44269193 6:44301456-44301456 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*366T>C SNV Benign 357048 rs325010 6:44267918-44267918 6:44300181-44300181 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*343G>A SNV Benign 357049 rs149050034 6:44267941-44267941 6:44300204-44300204 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*1710G>T SNV Benign 357024 rs1056093 6:44266574-44266574 6:44298837-44298837 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*423G>A SNV Benign 357045 rs325011 6:44267861-44267861 6:44300124-44300124 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*341G>A SNV Benign 357050 rs4714775 6:44267943-44267943 6:44300206-44300206 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*926C>T SNV Benign 357040 rs76458008 6:44267358-44267358 6:44299621-44299621 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.*1359A>G SNV Benign 357032 rs534416 6:44266925-44266925 6:44299188-44299188 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.1753-14C>G SNV Benign 357065 rs74950428 6:44272284-44272284 6:44304547-44304547 CMB019 Combined Oxidative Phosphorylation Deficiency 8 AARS2 NM_020745.4(AARS2):c.2007+8C>T SNV Benign 357064 rs150125794 6:44271910-44271910 6:44304173-44304173 CMB019 Combined Oxidative Phosphorylation Deficiency 8 CHRNE NM_000080.4(CHRNE):c.1090dup (p.Arg364fs) duplication Pathogenic 434765 rs1156634884 17:4802621-4802622 17:4899326-4899327 CNG001 Congenital Myasthenic Syndrome GFPT1 NM_001244710.1(GFPT1):c.686-2A>G SNV Pathogenic 540353 rs1011196447 2:69581446-69581446 2:69354314-69354314 CNG001 Congenital Myasthenic Syndrome VAMP1 NM_014231.5(VAMP1):c.146G>C (p.Arg49Pro) SNV Pathogenic 549692 rs754046104 12:6575150-6575150 12:6465984-6465984 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.442T>A (p.Cys148Ser) SNV Pathogenic 694659 17:4805285-4805285 17:4901990-4901990 CNG001 Congenital Myasthenic Syndrome DOK7 NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) duplication Pathogenic 1273 rs606231128 4:3494833-3494834 4:3493106-3493107 CNG001 Congenital Myasthenic Syndrome SCN4A NM_000334.4(SCN4A):c.4325T>A (p.Val1442Glu) SNV Pathogenic 5914 rs121908553 17:62019317-62019317 17:63941957-63941957 CNG001 Congenital Myasthenic Syndrome COLQ NM_005677.4(COLQ):c.1082del (p.Pro361fs) deletion Pathogenic 6652 rs769982050 3:15497519-15497519 3:15456012-15456012 CNG001 Congenital Myasthenic Syndrome RAPSN NM_005055.4(RAPSN):c.-210A>G SNV Pathogenic 8051 rs786200905 11:47470726-47470726 11:47449174-47449174 CNG001 Congenital Myasthenic Syndrome CHAT NM_020549.4(CHAT):c.914T>C (p.Ile305Thr) SNV Pathogenic 17513 rs75466054 10:50833680-50833680 10:49625634-49625634 CNG001 Congenital Myasthenic Syndrome AGRN NM_198576.4(AGRN):c.5125G>C (p.Gly1709Arg) SNV Pathogenic 18241 rs199476396 1:985955-985955 1:1050575-1050575 CNG001 Congenital Myasthenic Syndrome AGRN NM_198576.4(AGRN):c.5179G>T (p.Val1727Phe) SNV Pathogenic 126555 rs587777298 1:986143-986143 1:1050763-1050763 CNG001 Congenital Myasthenic Syndrome AGRN NM_198576.4(AGRN):c.1057C>T (p.Gln353Ter) SNV Pathogenic 126556 rs587777299 1:976962-976962 1:1041582-1041582 CNG001 Congenital Myasthenic Syndrome AGRN NM_198576.4(AGRN):c.226G>A (p.Gly76Ser) SNV Pathogenic 243036 rs756623659 1:957605-957605 1:1022225-1022225 CNG001 Congenital Myasthenic Syndrome AGRN NM_198576.4(AGRN):c.314A>T (p.Asn105Ile) SNV Pathogenic 243037 rs879253787 1:957693-957693 1:1022313-1022313 CNG001 Congenital Myasthenic Syndrome AGRN NM_198576.4(AGRN):c.1362dup (p.Ser455fs) duplication Pathogenic 243038 rs879253788 1:977516-977517 1:1042136-1042137 CNG001 Congenital Myasthenic Syndrome AGRN NM_198576.4(AGRN):c.5023G>A (p.Gly1675Ser) SNV Pathogenic 243039 rs764160563 1:985853-985853 1:1050473-1050473 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.1353dup (p.Asn452fs) duplication Pathogenic 243032 rs773526895 17:4802159-4802160 17:4898864-4898865 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.1327delG deletion Pathogenic 243031 rs763258280 17:4802186-4802186 17:4898891-4898891 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.130dup (p.Glu44fs) duplication Pathogenic 243030 rs762368691 17:4805974-4805975 17:4902679-4902680 CNG001 Congenital Myasthenic Syndrome CHRNE NC_000017.11:g.4902680_4903969del1290insTCTGGATGCG indel Pathogenic 243033 17:4805975-4807264 17:4902680-4903969 CNG001 Congenital Myasthenic Syndrome AGRN 1p36.33 deletion (0.48 Mb) deletion Pathogenic 243041 CNG001 Congenital Myasthenic Syndrome RAPSN NM_005055.4(RAPSN):c.-199C>G SNV Pathogenic 264677 rs886037842 11:47470715-47470715 11:47449163-47449163 CNG001 Congenital Myasthenic Syndrome GMPPB NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn) SNV Pathogenic/Likely pathogenic 60540 rs397509422 3:49759268-49759268 3:49721835-49721835 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.183_187dup (p.Leu63fs) duplication Pathogenic/Likely pathogenic 429303 rs776927709 17:4805917-4805918 17:4902622-4902623 CNG001 Congenital Myasthenic Syndrome COLQ NM_005677.4(COLQ):c.279C>A (p.Cys93Ter) SNV Likely pathogenic 636303 3:15529755-15529755 3:15488248-15488248 CNG001 Congenital Myasthenic Syndrome AGRN NM_198576.4(AGRN):c.569_573CGGGC[3] (p.Ser194fs) short repeat Likely pathogenic 666960 1:976097-976098 1:1040717-1040718 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_000079.4(CHRNA1):c.380_381del (p.Lys127fs) deletion Likely pathogenic 667020 2:175619106-175619107 2:174754378-174754379 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.1252_1267dup (p.Cys423fs) duplication Likely pathogenic 694644 17:4802354-4802355 17:4899059-4899060 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu) SNV Conflicting interpretations of pathogenicity 18360 rs121909516 17:4805239-4805239 17:4901944-4901944 CNG001 Congenital Myasthenic Syndrome SCN4A NM_000334.4(SCN4A):c.737C>T (p.Ser246Leu) SNV Conflicting interpretations of pathogenicity 21161 rs80338951 17:62045682-62045682 17:63968322-63968322 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu) SNV Conflicting interpretations of pathogenicity 40228 rs201434993 17:4804377-4804377 17:4901082-4901082 CNG001 Congenital Myasthenic Syndrome RAPSN NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) SNV Conflicting interpretations of pathogenicity 8046 rs104894299 11:47469631-47469631 11:47448079-47448079 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*908A>G SNV Conflicting interpretations of pathogenicity 896197 2:233400930-233400930 2:232536220-232536220 CNG001 Congenital Myasthenic Syndrome CHAT NM_020549.4(CHAT):c.406G>A (p.Val136Met) SNV Conflicting interpretations of pathogenicity 279754 rs201479289 10:50827789-50827789 10:49619743-49619743 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.919C>T (p.Pro307Ser) SNV Conflicting interpretations of pathogenicity 281423 rs142063328 2:233396160-233396160 2:232531450-232531450 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) SNV Conflicting interpretations of pathogenicity 282036 rs144169073 17:4806002-4806002 17:4902707-4902707 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*5C>T SNV Conflicting interpretations of pathogenicity 254886 rs747566295 17:4802026-4802026 17:4898731-4898731 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.1416C>T (p.Leu472=) SNV Conflicting interpretations of pathogenicity 254892 rs145456588 17:4802097-4802097 17:4898802-4898802 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.1530C>T (p.Asn510=) SNV Conflicting interpretations of pathogenicity 288058 rs114463490 2:233399998-233399998 2:232535288-232535288 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_001039523.3(CHRNA1):c.1368C>T (p.Leu456=) SNV Conflicting interpretations of pathogenicity 332437 rs146899588 2:175612933-175612933 2:174748205-174748205 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.465C>T (p.Phe155=) SNV Conflicting interpretations of pathogenicity 254898 rs139625105 17:4805262-4805262 17:4901967-4901967 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.6A>G (p.Ala2=) SNV Conflicting interpretations of pathogenicity 254901 rs202198207 17:4806353-4806353 17:4903058-4903058 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_001039523.3(CHRNA1):c.*422G>T SNV Conflicting interpretations of pathogenicity 332429 rs184095877 2:175612430-175612430 2:174747702-174747702 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.198+14C>T SNV Conflicting interpretations of pathogenicity 256780 rs199538903 2:233391398-233391398 2:232526688-232526688 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.1400G>A (p.Arg467His) SNV Conflicting interpretations of pathogenicity 194006 rs148939701 2:233399868-233399868 2:232535158-232535158 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_001039523.3(CHRNA1):c.730C>T (p.Leu244=) SNV Conflicting interpretations of pathogenicity 198039 rs150638770 2:175618354-175618354 2:174753626-174753626 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) SNV Conflicting interpretations of pathogenicity 198749 rs41265127 2:233396103-233396103 2:232531393-232531393 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.1220-2A>G SNV Conflicting interpretations of pathogenicity 631777 rs1309292778 17:4802404-4802404 17:4899109-4899109 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.1104C>T (p.Pro368=) SNV Conflicting interpretations of pathogenicity 706191 17:4802608-4802608 17:4899313-4899313 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.23T>C (p.Val8Ala) SNV Conflicting interpretations of pathogenicity 705677 17:4806336-4806336 17:4903041-4903041 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.480C>T (p.Phe160=) SNV Conflicting interpretations of pathogenicity 714461 2:233393337-233393337 2:232528627-232528627 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*365C>A SNV Conflicting interpretations of pathogenicity 897730 2:233400387-233400387 2:232535677-232535677 CNG001 Congenital Myasthenic Syndrome CHRNG NM_000751.3(CHRND):c.*365C>A SNV Conflicting interpretations of pathogenicity 897730 2:233400387-233400387 2:232535677-232535677 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.1383C>G (p.Ala461=) SNV Conflicting interpretations of pathogenicity 465860 rs570378547 17:4802130-4802130 17:4898835-4898835 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.1245C>T (p.Ala415=) SNV Conflicting interpretations of pathogenicity 465858 rs202051373 17:4802377-4802377 17:4899082-4899082 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_001039523.3(CHRNA1):c.987C>T (p.Phe329=) SNV Conflicting interpretations of pathogenicity 466185 rs373005571 2:175614764-175614764 2:174750036-174750036 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.45G>A (p.Ala15=) SNV Conflicting interpretations of pathogenicity 466194 rs138609765 2:233390970-233390970 2:232526260-232526260 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.1127G>A (p.Arg376Gln) SNV Conflicting interpretations of pathogenicity 534533 rs749866545 2:233398720-233398720 2:232534010-232534010 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.1455A>G (p.Thr485=) SNV Conflicting interpretations of pathogenicity 534539 rs756537437 2:233399923-233399923 2:232535213-232535213 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_001039523.3(CHRNA1):c.*411G>A SNV Conflicting interpretations of pathogenicity 332431 rs560280191 2:175612441-175612441 2:174747713-174747713 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_001039523.3(CHRNA1):c.1077+9G>A SNV Conflicting interpretations of pathogenicity 332441 rs368959759 2:175614665-175614665 2:174749937-174749937 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*149A>G SNV Conflicting interpretations of pathogenicity 334979 rs114315112 2:233400171-233400171 2:232535461-232535461 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_001039523.3(CHRNA1):c.1369G>A (p.Gly457Arg) SNV Conflicting interpretations of pathogenicity 332436 rs151081792 2:175612932-175612932 2:174748204-174748204 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_001039523.3(CHRNA1):c.111C>T (p.Ser37=) SNV Conflicting interpretations of pathogenicity 332451 rs886055151 2:175624294-175624294 2:174759566-174759566 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_001039523.3(CHRNA1):c.-37A>G SNV Conflicting interpretations of pathogenicity 332452 rs182459320 2:175629159-175629159 2:174764431-174764431 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_001039523.3(CHRNA1):c.1407C>T (p.Ala469=) SNV Conflicting interpretations of pathogenicity 332435 rs771587252 2:175612894-175612894 2:174748166-174748166 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_001039523.3(CHRNA1):c.1323G>A (p.Ala441=) SNV Conflicting interpretations of pathogenicity 332438 rs17838545 2:175612978-175612978 2:174748250-174748250 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_001039523.3(CHRNA1):c.888G>A (p.Leu296=) SNV Conflicting interpretations of pathogenicity 332442 rs374093236 2:175614863-175614863 2:174750135-174750135 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.525G>A (p.Thr175=) SNV Conflicting interpretations of pathogenicity 334966 rs56203086 2:233393587-233393587 2:232528877-232528877 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.1253-9C>T SNV Conflicting interpretations of pathogenicity 334972 rs2853458 2:233398925-233398925 2:232534215-232534215 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.411C>T (p.Gly137=) SNV Conflicting interpretations of pathogenicity 334964 rs373578965 2:233393268-233393268 2:232528558-232528558 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.651G>A (p.Pro217=) SNV Conflicting interpretations of pathogenicity 334967 rs146205427 2:233394680-233394680 2:232529970-232529970 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.1253-10T>G SNV Conflicting interpretations of pathogenicity 334971 rs199508773 2:233398924-233398924 2:232534214-232534214 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.1374C>T (p.Cys458=) SNV Conflicting interpretations of pathogenicity 323977 rs201030784 17:4802139-4802139 17:4898844-4898844 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.1071G>A (p.Pro357=) SNV Conflicting interpretations of pathogenicity 323983 rs772143528 17:4802641-4802641 17:4899346-4899346 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.510G>A (p.Thr170=) SNV Conflicting interpretations of pathogenicity 323994 rs749454549 17:4804911-4804911 17:4901616-4901616 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.1446G>A (p.Val482=) SNV Conflicting interpretations of pathogenicity 323976 rs376713095 17:4802067-4802067 17:4898772-4898772 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.797C>T (p.Ala266Val) SNV Conflicting interpretations of pathogenicity 323990 rs201463598 17:4804290-4804290 17:4900995-4900995 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.723C>T (p.Leu241=) SNV Conflicting interpretations of pathogenicity 323992 rs886053126 17:4804364-4804364 17:4901069-4901069 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.901G>A (p.Val301Met) SNV Conflicting interpretations of pathogenicity 323987 rs140023380 17:4804104-4804104 17:4900809-4900809 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.235-5C>T SNV Conflicting interpretations of pathogenicity 323996 rs371818740 17:4805626-4805626 17:4902331-4902331 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.506A>T (p.Gln169Leu) SNV Conflicting interpretations of pathogenicity 323995 rs148370803 17:4804915-4804915 17:4901620-4901620 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg) SNV Conflicting interpretations of pathogenicity 372325 rs370019023 17:4804100-4804100 17:4900805-4900805 CNG001 Congenital Myasthenic Syndrome RYR1 NM_000540.2(RYR1):c.4115C>T (p.Ala1372Val) SNV Conflicting interpretations of pathogenicity 374135 rs370966353 19:38964366-38964366 19:38473726-38473726 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.802+7A>C SNV Conflicting interpretations of pathogenicity 323989 rs756213406 17:4804278-4804278 17:4900983-4900983 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.414C>T (p.Phe138=) SNV Conflicting interpretations of pathogenicity 385691 rs150208750 2:233393271-233393271 2:232528561-232528561 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.918-14T>C SNV Conflicting interpretations of pathogenicity 380910 rs375376258 17:4802891-4802891 17:4899596-4899596 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.768C>T (p.Gly256=) SNV Uncertain significance 323991 rs372509633 17:4804319-4804319 17:4901024-4901024 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.556G>A (p.Gly186Ser) SNV Uncertain significance 323993 rs764960076 17:4804865-4804865 17:4901570-4901570 CNG001 Congenital Myasthenic Syndrome RYR1 NM_000540.2(RYR1):c.4236C>G (p.His1412Gln) SNV Uncertain significance 374136 rs146206507 19:38966033-38966033 19:38475393-38475393 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.107A>C (p.Asp36Ala) SNV Uncertain significance 323997 rs886053127 17:4805998-4805998 17:4902703-4902703 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*903G>A SNV Uncertain significance 323944 rs549064723 17:4801128-4801128 17:4897833-4897833 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*902C>T SNV Uncertain significance 323945 rs369145199 17:4801129-4801129 17:4897834-4897834 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*852G>A SNV Uncertain significance 323950 rs761256289 17:4801179-4801179 17:4897884-4897884 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*805T>G SNV Uncertain significance 323954 rs113366718 17:4801226-4801226 17:4897931-4897931 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*597G>A SNV Uncertain significance 323962 rs886053118 17:4801434-4801434 17:4898139-4898139 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*590C>T SNV Uncertain significance 323963 rs886053119 17:4801441-4801441 17:4898146-4898146 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*383G>A SNV Uncertain significance 323967 rs886053121 17:4801648-4801648 17:4898353-4898353 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*315T>G SNV Uncertain significance 323969 rs779969688 17:4801716-4801716 17:4898421-4898421 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*125C>T SNV Uncertain significance 323973 rs538687901 17:4801906-4801906 17:4898611-4898611 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.1326+6A>C SNV Uncertain significance 323978 rs886053122 17:4802290-4802290 17:4898995-4898995 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.820A>G (p.Thr274Ala) SNV Uncertain significance 323988 rs774407731 17:4804185-4804185 17:4900890-4900890 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*836C>T SNV Uncertain significance 323952 rs886053113 17:4801195-4801195 17:4897900-4897900 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.1289T>G (p.Val430Gly) SNV Uncertain significance 323979 rs200343520 17:4802333-4802333 17:4899038-4899038 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.255C>A (p.Asp85Glu) SNV Uncertain significance 334963 rs146905561 2:233392983-233392983 2:232528273-232528273 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*267C>T SNV Uncertain significance 323970 rs551251860 17:4801764-4801764 17:4898469-4898469 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.1030C>G (p.His344Asp) SNV Uncertain significance 323986 rs886053125 17:4802765-4802765 17:4899470-4899470 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*876G>A SNV Uncertain significance 323946 rs192238331 17:4801155-4801155 17:4897860-4897860 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*875C>T SNV Uncertain significance 323947 rs886053112 17:4801156-4801156 17:4897861-4897861 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*556C>T SNV Uncertain significance 323965 rs886053120 17:4801475-4801475 17:4898180-4898180 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*366G>A SNV Uncertain significance 323968 rs551684568 17:4801665-4801665 17:4898370-4898370 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*206G>A SNV Uncertain significance 323971 rs548395785 17:4801825-4801825 17:4898530-4898530 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*806G>A SNV Uncertain significance 323953 rs886053114 17:4801225-4801225 17:4897930-4897930 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*622C>T SNV Uncertain significance 323960 rs886053117 17:4801409-4801409 17:4898114-4898114 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*572C>G SNV Uncertain significance 323964 rs564549054 17:4801459-4801459 17:4898164-4898164 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*580C>T SNV Uncertain significance 334986 rs371903548 2:233400602-233400602 2:232535892-232535892 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*1194C>T SNV Uncertain significance 334995 rs778967055 2:233401216-233401216 2:232536506-232536506 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.893G>A (p.Arg298His) SNV Uncertain significance 334968 rs139722128 2:233396134-233396134 2:232531424-232531424 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.920C>T (p.Pro307Leu) SNV Uncertain significance 334969 rs371376389 2:233396161-233396161 2:232531451-232531451 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.442C>T (p.Arg148Cys) SNV Uncertain significance 334965 rs199984639 2:233393299-233393299 2:232528589-232528589 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.1359C>T (p.Asn453=) SNV Uncertain significance 334973 rs776972228 2:233399040-233399040 2:232534330-232534330 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*635C>T SNV Uncertain significance 334988 rs747270172 2:233400657-233400657 2:232535947-232535947 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*449C>T SNV Uncertain significance 334984 rs886055784 2:233400471-233400471 2:232535761-232535761 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*641C>T SNV Uncertain significance 334989 rs190008760 2:233400663-233400663 2:232535953-232535953 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*1032C>T SNV Uncertain significance 334994 rs886055786 2:233401054-233401054 2:232536344-232536344 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_001039523.3(CHRNA1):c.394C>T (p.Arg132Cys) SNV Uncertain significance 332448 rs140268343 2:175622319-175622319 2:174757591-174757591 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_001039523.3(CHRNA1):c.224G>A (p.Arg75His) SNV Uncertain significance 332450 rs147488907 2:175624069-175624069 2:174759341-174759341 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*92C>T SNV Uncertain significance 334976 rs561266227 2:233400114-233400114 2:232535404-232535404 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*196G>A SNV Uncertain significance 334980 rs886055783 2:233400218-233400218 2:232535508-232535508 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_001039523.3(CHRNA1):c.680G>A (p.Arg227Gln) SNV Uncertain significance 332447 rs769337073 2:175618404-175618404 2:174753676-174753676 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.1252+10C>T SNV Uncertain significance 334970 rs373581541 2:233398855-233398855 2:232534145-232534145 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.1473G>T (p.Gln491His) SNV Uncertain significance 334974 rs886055781 2:233399941-233399941 2:232535231-232535231 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_001039523.3(CHRNA1):c.*461A>T SNV Uncertain significance 332427 rs542750994 2:175612391-175612391 2:174747663-174747663 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_001039523.3(CHRNA1):c.*288G>A SNV Uncertain significance 332433 rs564090863 2:175612564-175612564 2:174747836-174747836 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_001039523.3(CHRNA1):c.*275A>G SNV Uncertain significance 332434 rs886055148 2:175612577-175612577 2:174747849-174747849 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_001039523.3(CHRNA1):c.1322C>T (p.Ala441Val) SNV Uncertain significance 332439 rs367751078 2:175612979-175612979 2:174748251-174748251 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*942C>T SNV Uncertain significance 334992 rs571263995 2:233400964-233400964 2:232536254-232536254 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*1313G>A SNV Uncertain significance 334997 rs554703726 2:233401335-233401335 2:232536625-232536625 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_001039523.3(CHRNA1):c.*358C>T SNV Uncertain significance 332432 rs886055147 2:175612494-175612494 2:174747766-174747766 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*227G>A SNV Uncertain significance 334981 rs766592644 2:233400249-233400249 2:232535539-232535539 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*379C>T SNV Uncertain significance 334982 rs552885486 2:233400401-233400401 2:232535691-232535691 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_001039523.3(CHRNA1):c.780C>A (p.Ile260=) SNV Uncertain significance 332446 rs143252724 2:175618304-175618304 2:174753576-174753576 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_001039523.3(CHRNA1):c.342A>G (p.Pro114=) SNV Uncertain significance 332449 rs886055150 2:175622371-175622371 2:174757643-174757643 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*145C>G SNV Uncertain significance 334978 rs530039427 2:233400167-233400167 2:232535457-232535457 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.581T>C (p.Ile194Thr) SNV Uncertain significance 534259 rs146931108 17:4804840-4804840 17:4901545-4901545 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.1181A>C (p.Lys394Thr) SNV Uncertain significance 548627 rs1553575390 2:233398774-233398774 2:232534064-232534064 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_001039523.3(CHRNA1):c.761G>A (p.Arg254His) SNV Uncertain significance 578690 rs137852809 2:175618323-175618323 2:174753595-174753595 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.896T>C (p.Leu299Pro) SNV Uncertain significance 583083 rs142735836 17:4804109-4804109 17:4900814-4900814 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.710G>A (p.Arg237His) SNV Uncertain significance 568308 rs201434993 17:4804377-4804377 17:4901082-4901082 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.1367A>G (p.Asn456Ser) SNV Uncertain significance 466190 rs144433265 2:233399048-233399048 2:232534338-232534338 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.46+5G>A SNV Uncertain significance 425118 rs375802288 17:4806308-4806308 17:4903013-4903013 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*388C>T SNV Uncertain significance 888681 17:4801643-4801643 17:4898348-4898348 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*329T>A SNV Uncertain significance 890388 17:4801702-4801702 17:4898407-4898407 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*38G>A SNV Uncertain significance 890945 17:4801993-4801993 17:4898698-4898698 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*24C>T SNV Uncertain significance 890946 17:4802007-4802007 17:4898712-4898712 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.1228T>C (p.Cys410Arg) SNV Uncertain significance 888745 17:4802394-4802394 17:4899099-4899099 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.1205A>G (p.Gln402Arg) SNV Uncertain significance 888746 17:4802507-4802507 17:4899212-4899212 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.1116G>A (p.Ala372=) SNV Uncertain significance 890448 17:4802596-4802596 17:4899301-4899301 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.1106C>G (p.Pro369Arg) SNV Uncertain significance 890449 17:4802606-4802606 17:4899311-4899311 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.1057C>G (p.Leu353Val) SNV Uncertain significance 890450 17:4802655-4802655 17:4899360-4899360 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.794C>G (p.Pro265Arg) SNV Uncertain significance 892243 17:4804293-4804293 17:4900998-4900998 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.781G>T (p.Ala261Ser) SNV Uncertain significance 892244 17:4804306-4804306 17:4901011-4901011 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.360C>T (p.Phe120=) SNV Uncertain significance 888828 17:4805367-4805367 17:4902072-4902072 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_000079.4(CHRNA1):c.*499A>T SNV Uncertain significance 893452 2:175612353-175612353 2:174747625-174747625 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_000079.4(CHRNA1):c.*466G>C SNV Uncertain significance 893453 2:175612386-175612386 2:174747658-174747658 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_000079.4(CHRNA1):c.*383T>C SNV Uncertain significance 893761 2:175612469-175612469 2:174747741-174747741 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_000079.4(CHRNA1):c.*310C>T SNV Uncertain significance 894677 2:175612542-175612542 2:174747814-174747814 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*453T>C SNV Uncertain significance 898881 2:233400475-233400475 2:232535765-232535765 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*505C>G SNV Uncertain significance 895916 2:233400527-233400527 2:232535817-232535817 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*598G>C SNV Uncertain significance 895917 2:233400620-233400620 2:232535910-232535910 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*855C>T SNV Uncertain significance 890890 17:4801176-4801176 17:4897881-4897881 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.1480T>C (p.Ter494Gln) SNV Uncertain significance 631776 rs972956416 17:4802033-4802033 17:4898738-4898738 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.385_388del (p.Leu129fs) deletion Uncertain significance 632284 rs1411229157 17:4805339-4805342 17:4902044-4902047 CNG001 Congenital Myasthenic Syndrome DOK7 NM_173660.5(DOK7):c.1457del (p.Pro486fs) deletion Uncertain significance 689376 4:3495166-3495166 4:3493439-3493439 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_001039523.3(CHRNA1):c.1363C>T (p.Leu455Phe) SNV Uncertain significance 648665 2:175612938-175612938 2:174748210-174748210 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_000079.4(CHRNA1):c.*130A>T SNV Uncertain significance 892690 2:175612722-175612722 2:174747994-174747994 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_000079.4(CHRNA1):c.*101C>T SNV Uncertain significance 892691 2:175612751-175612751 2:174748023-174748023 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_000079.4(CHRNA1):c.1255T>A (p.Trp419Arg) SNV Uncertain significance 893492 2:175612971-175612971 2:174748243-174748243 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_000079.4(CHRNA1):c.962G>A (p.Arg321His) SNV Uncertain significance 894707 2:175614714-175614714 2:174749986-174749986 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_000079.4(CHRNA1):c.805G>C (p.Val269Leu) SNV Uncertain significance 892724 2:175614871-175614871 2:174750143-174750143 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_000079.4(CHRNA1):c.711C>T (p.Asn237=) SNV Uncertain significance 892725 2:175618298-175618298 2:174753570-174753570 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_000079.4(CHRNA1):c.76C>T (p.Arg26Cys) SNV Uncertain significance 894736 2:175624329-175624329 2:174759601-174759601 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_000079.4(CHRNA1):c.2T>C (p.Met1Thr) SNV Uncertain significance 894737 2:175629121-175629121 2:174764393-174764393 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.145G>A (p.Glu49Lys) SNV Uncertain significance 895704 2:233391331-233391331 2:232526621-232526621 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.172C>T (p.Leu58Phe) SNV Uncertain significance 895705 2:233391358-233391358 2:232526648-232526648 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.267G>C (p.Lys89Asn) SNV Uncertain significance 895989 2:233392995-233392995 2:232528285-232528285 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.348G>A (p.Glu116=) SNV Uncertain significance 895990 2:233393076-233393076 2:232528366-232528366 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.1195C>T (p.Leu399Phe) SNV Uncertain significance 896061 2:233398788-233398788 2:232534078-232534078 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*175G>A SNV Uncertain significance 895856 2:233400197-233400197 2:232535487-232535487 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*268G>A SNV Uncertain significance 896133 2:233400290-233400290 2:232535580-232535580 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*290G>A SNV Uncertain significance 896134 2:233400312-233400312 2:232535602-232535602 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*342C>T SNV Uncertain significance 897729 2:233400364-233400364 2:232535654-232535654 CNG001 Congenital Myasthenic Syndrome AGRN NM_198576.4(AGRN):c.5611G>A (p.Gly1871Arg) SNV Uncertain significance 243040 rs763818876 1:987155-987155 1:1051775-1051775 CNG001 Congenital Myasthenic Syndrome SCN4A NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp) SNV Uncertain significance 243042 rs879253789 17:62019282-62019282 17:63941922-63941922 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_001039523.3(CHRNA1):c.*414T>A SNV Uncertain significance 332430 rs886055146 2:175612438-175612438 2:174747710-174747710 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.727C>T (p.Arg243Cys) SNV Uncertain significance 283138 rs201733876 2:233394756-233394756 2:232530046-232530046 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.1183T>G (p.Phe395Val) SNV Uncertain significance 287916 rs755802710 17:4802529-4802529 17:4899234-4899234 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*969G>A SNV Uncertain significance 897799 2:233400991-233400991 2:232536281-232536281 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*1189G>C SNV Uncertain significance 898950 2:233401211-233401211 2:232536501-232536501 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*1232A>C SNV Uncertain significance 898951 2:233401254-233401254 2:232536544-232536544 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*1278C>T SNV Uncertain significance 894818 2:233401300-233401300 2:232536590-232536590 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*1314A>T SNV Uncertain significance 894819 2:233401336-233401336 2:232536626-232536626 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.52+7G>A SNV Uncertain significance 898685 2:233390984-233390984 2:232526274-232526274 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.932+9C>T SNV Uncertain significance 895779 2:233396182-233396182 2:232531472-232531472 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*676G>A SNV Likely benign 334990 rs183259359 2:233400698-233400698 2:232535988-232535988 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*858G>C SNV Likely benign 323949 rs375660349 17:4801173-4801173 17:4897878-4897878 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.1242C>A (p.Gly414=) SNV Benign/Likely benign 323980 rs370770111 17:4802380-4802380 17:4899085-4899085 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.1220-5G>A SNV Benign/Likely benign 323982 rs188564977 17:4802407-4802407 17:4899112-4899112 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*885T>C SNV Benign/Likely benign 334991 rs1004175 2:233400907-233400907 2:232536197-232536197 CNG001 Congenital Myasthenic Syndrome CHRNG NM_000751.3(CHRND):c.*885T>C SNV Benign/Likely benign 334991 rs1004175 2:233400907-233400907 2:232536197-232536197 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*52A>G SNV Benign/Likely benign 334975 rs2767 2:233400074-233400074 2:232535364-232535364 CNG001 Congenital Myasthenic Syndrome CHRNG NM_000751.3(CHRND):c.*52A>G SNV Benign/Likely benign 334975 rs2767 2:233400074-233400074 2:232535364-232535364 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*424C>T SNV Benign/Likely benign 334983 rs4973046 2:233400446-233400446 2:232535736-232535736 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*547G>C SNV Benign/Likely benign 334985 rs2343841 2:233400569-233400569 2:232535859-232535859 CNG001 Congenital Myasthenic Syndrome CHRNG NM_000751.3(CHRND):c.*547G>C SNV Benign/Likely benign 334985 rs2343841 2:233400569-233400569 2:232535859-232535859 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*1025A>G SNV Benign/Likely benign 334993 rs115132742 2:233401047-233401047 2:232536337-232536337 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser) SNV Benign/Likely benign 193603 rs2229194 2:233398698-233398698 2:232533988-232533988 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*6A>G SNV Benign/Likely benign 193972 rs55806270 17:4802025-4802025 17:4898730-4898730 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu) SNV Benign/Likely benign 128764 rs139171143 17:4802111-4802111 17:4898816-4898816 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.1425C>T (p.Leu475=) SNV Benign/Likely benign 254893 rs151193377 17:4802088-4802088 17:4898793-4898793 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_001039523.3(CHRNA1):c.1308G>T (p.Glu436Asp) SNV Benign/Likely benign 332440 rs61737716 2:175613317-175613317 2:174748589-174748589 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*43T>C SNV Benign/Likely benign 254885 rs2229200 17:4801988-4801988 17:4898693-4898693 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*37G>A SNV Benign/Likely benign 254884 rs2229199 17:4801994-4801994 17:4898699-4898699 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_001039523.3(CHRNA1):c.718G>A (p.Asp240Asn) SNV Benign/Likely benign 210728 rs148304857 2:175618366-175618366 2:174753638-174753638 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_001039523.3(CHRNA1):c.798C>T (p.Pro266=) SNV Benign/Likely benign 493302 rs189442556 2:175618286-175618286 2:174753558-174753558 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_000079.4(CHRNA1):c.*218C>T SNV Benign/Likely benign 892689 2:175612634-175612634 2:174747906-174747906 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.918-6C>G SNV Benign/Likely benign 465865 rs141408756 17:4802883-4802883 17:4899588-4899588 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.1076C>T (p.Pro359Leu) SNV Benign/Likely benign 585672 rs192195094 17:4802636-4802636 17:4899341-4899341 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.1119G>T (p.Ser373=) SNV Benign 465854 rs372862723 17:4802593-4802593 17:4899298-4899298 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*748G>A SNV Benign 892125 17:4801283-4801283 17:4897988-4897988 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.117C>G (p.Asn39Lys) SNV Benign 195100 rs77084550 2:233391303-233391303 2:232526593-232526593 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_001039523.3(CHRNA1):c.*426C>A SNV Benign 332428 rs115375214 2:175612426-175612426 2:174747698-174747698 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.-8G>A SNV Benign 254888 rs77481135 17:4806366-4806366 17:4903071-4903071 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.966C>T (p.Cys322=) SNV Benign 254904 rs56377005 17:4802829-4802829 17:4899534-4899534 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.917+15C>G SNV Benign 254903 rs12942540 17:4804073-4804073 17:4900778-4900778 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.345-7C>T SNV Benign 128765 rs72835059 17:4805389-4805389 17:4902094-4902094 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.45C>T (p.Leu15=) SNV Benign 128766 rs34563587 17:4806314-4806314 17:4903019-4903019 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.519C>T (p.Ala173=) SNV Benign 128767 rs33970119 17:4804902-4804902 17:4901607-4901607 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.53G>T (p.Gly18Val) SNV Benign 128768 rs4790235 17:4806052-4806052 17:4902757-4902757 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_001039523.3(CHRNA1):c.1148A>T (p.Asp383Val) SNV Benign 128733 rs6739001 2:175613477-175613477 2:174748749-174748749 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_001039523.3(CHRNA1):c.615+4G>C SNV Benign 128734 rs112674580 2:175618943-175618943 2:174754215-174754215 CNG001 Congenital Myasthenic Syndrome CHRNA1 NM_001039523.3(CHRNA1):c.1035C>T (p.His345=) SNV Benign 128735 rs2229957 2:175614716-175614716 2:174749988-174749988 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.1047+9T>C SNV Benign 128755 rs3762528 2:233396375-233396375 2:232531665-232531665 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.120G>A (p.Lys40=) SNV Benign 128756 rs55921262 2:233391306-233391306 2:232526596-232526596 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.12A>G (p.Pro4=) SNV Benign 128757 rs2245601 2:233390937-233390937 2:232526227-232526227 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.1017C>G (p.Ser339=) SNV Benign 128760 rs114454383 17:4802778-4802778 17:4899483-4899483 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.1033-6C>T SNV Benign 128761 rs2075763 17:4802685-4802685 17:4899390-4899390 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.1293C>T (p.Ala431=) SNV Benign 128762 rs33978919 17:4802329-4802329 17:4899034-4899034 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.1305A>G (p.Arg435=) SNV Benign 128763 rs55681486 17:4802317-4802317 17:4899022-4899022 CNG001 Congenital Myasthenic Syndrome CHRND NM_000751.3(CHRND):c.*1240T>C SNV Benign 334996 rs77032539 2:233401262-233401262 2:232536552-232536552 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*868G>T SNV Benign 323948 rs7774 17:4801163-4801163 17:4897868-4897868 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*65C>T SNV Benign 323974 rs56067981 17:4801966-4801966 17:4898671-4898671 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*930T>G SNV Benign 323942 rs116802199 17:4801101-4801101 17:4897806-4897806 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*906G>C SNV Benign 323943 rs9914357 17:4801125-4801125 17:4897830-4897830 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*61C>T SNV Benign 323975 rs12940036 17:4801970-4801970 17:4898675-4898675 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*610C>T SNV Benign 323961 rs144554248 17:4801421-4801421 17:4898126-4898126 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*437G>C SNV Benign 323966 rs3514 17:4801594-4801594 17:4898299-4898299 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*745G>A SNV Benign 323958 rs1053751 17:4801286-4801286 17:4897991-4897991 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*743T>G SNV Benign 323959 rs1053754 17:4801288-4801288 17:4897993-4897993 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*837A>G SNV Benign 323951 rs8834 17:4801194-4801194 17:4897899-4897899 CNG001 Congenital Myasthenic Syndrome CHRNE NM_000080.4(CHRNE):c.*144T>C SNV Benign 323972 rs12936083 17:4801887-4801887 17:4898592-4898592 CNG001 Congenital Myasthenic Syndrome KIF5C NM_004522.3(KIF5C):c.710A>T (p.Glu237Val) SNV Pathogenic 65402 rs587777035 2:149803533-149803533 2:148947019-148947019 CRT067 Cortical Dysplasia, Complex, with Other Brain Malformations 2 KIF5C NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys) SNV Pathogenic 140740 rs587777570 2:149803532-149803532 2:148947018-148947018 CRT067 Cortical Dysplasia, Complex, with Other Brain Malformations 2 KIF5C NM_004522.3(KIF5C):c.1864A>G (p.Ser622Gly) SNV Uncertain significance 638267 2:149847671-149847671 2:148991157-148991157 CRT067 Cortical Dysplasia, Complex, with Other Brain Malformations 2 KIF5C NM_004522.3(KIF5C):c.1190C>G (p.Pro397Arg) SNV Uncertain significance 638380 2:149829922-149829922 2:148973408-148973408 CRT067 Cortical Dysplasia, Complex, with Other Brain Malformations 2 KIF5C NM_004522.3(KIF5C):c.1018G>A (p.Glu340Lys) SNV Likely benign 638268 2:149818534-149818534 2:148962020-148962020 CRT067 Cortical Dysplasia, Complex, with Other Brain Malformations 2 TRNL1 NC_012920.1:m.3243A>G SNV Pathogenic 9589 rs199474657 MT:3243-3243 MT:3243-3243 CYC008 Cyclic Vomiting Syndrome RNR1 m.961delTinsC(2_7) indel Pathogenic 9629 rs1556422499 MT:961-961 MT:961-961 DFN350 Deafness, Aminoglycoside-Induced RNR1 m.1095T>C SNV drug response 9631 rs267606618 MT:1095-1095 MT:1095-1095 DFN350 Deafness, Aminoglycoside-Induced RNR1 m.1494C>T SNV drug response 9632 rs267606619 MT:1494-1494 MT:1494-1494 DFN350 Deafness, Aminoglycoside-Induced TRNS1 m.1494C>T SNV drug response 9632 rs267606619 MT:1494-1494 MT:1494-1494 DFN350 Deafness, Aminoglycoside-Induced RNR1 m.827A>G SNV drug response 9634 rs28358569 MT:827-827 MT:827-827 DFN350 Deafness, Aminoglycoside-Induced RNR1 NC_012920.1:m.1555A>G SNV drug response 9628 rs267606617 MT:1555-1555 MT:1555-1555 DFN350 Deafness, Aminoglycoside-Induced TRMU NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) SNV Benign 1290 rs11090865 22:46731689-46731689 22:46335792-46335792 DFN350 Deafness, Aminoglycoside-Induced COX1 NC_012920.1:m.7444G>A SNV Benign 9663 rs199474822 MT:7444-7444 MT:7444-7444 DFN350 Deafness, Aminoglycoside-Induced TRNS1 NC_012920.1:m.7444G>A SNV Benign 9663 rs199474822 MT:7444-7444 MT:7444-7444 DFN350 Deafness, Aminoglycoside-Induced TJP2 9q21.11 duplication duplication Pathogenic 813832 DFN246 Deafness, Autosomal Dominant 51 TJP2 NC_000009.11:g.71705804_71974823invdup duplication Pathogenic 236063 DFN246 Deafness, Autosomal Dominant 51 TJP2 NC_000009.11:g.71704982_71840362dup duplication Pathogenic 236035 9:71704982-71840362 9:69090066-69225446 DFN246 Deafness, Autosomal Dominant 51 GAB1 NM_002039.4(GAB1):c.347G>A (p.Gly116Glu) SNV Pathogenic 545492 rs1553950635 4:144336904-144336904 4:143415751-143415751 DFN168 Deafness, Autosomal Recessive 26 SLC26A4 NM_000441.2(SLC26A4):c.439A>G (p.Met147Val) SNV Affects 691508 rs760413427 7:107314632-107314632 7:107674187-107674187 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.367C>T (p.Pro123Ser) SNV Affects 691506 rs984967571 7:107312645-107312645 7:107672200-107672200 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.392G>T (p.Gly131Val) SNV Affects 691507 7:107312670-107312670 7:107672225-107672225 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.919A>G (p.Thr307Ala) SNV other 691510 7:107323900-107323900 7:107683455-107683455 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1223C>T (p.Ser408Phe) SNV Affects 691511 7:107330642-107330642 7:107690197-107690197 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1262A>T (p.Gln421Leu) SNV Affects 691513 7:107330681-107330681 7:107690236-107690236 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1277T>A (p.Ile426Asn) SNV Affects 691514 rs375540945 7:107334861-107334861 7:107694416-107694416 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1970G>A (p.Ser657Asn) SNV Affects 691516 7:107342438-107342438 7:107701993-107701993 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1997C>T (p.Ser666Phe) SNV Affects 691517 7:107342465-107342465 7:107702020-107702020 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.2108T>C (p.Leu703Pro) SNV Pathogenic 691518 7:107350517-107350517 7:107710072-107710072 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs) duplication Pathogenic 627475 rs746427774 7:107340599-107340600 7:107700154-107700155 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1746del (p.Ala584fs) deletion Pathogenic 627476 rs1241745103 7:107341584-107341584 7:107701139-107701139 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1458dup (p.Ile487fs) duplication Pathogenic 813397 7:107336397-107336398 7:107695952-107695953 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.641A>G (p.Tyr214Cys) SNV Pathogenic 691509 7:107315430-107315430 7:107674985-107674985 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.109G>T (p.Glu37Ter) SNV Pathogenic 627471 rs371544695 7:107302195-107302195 7:107661750-107661750 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.589G>T (p.Gly197Ter) SNV Pathogenic 627477 rs111033380 7:107314782-107314782 7:107674337-107674337 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1318A>T (p.Lys440Ter) SNV Pathogenic 627478 rs1562835480 7:107334902-107334902 7:107694457-107694457 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1339A>T (p.Lys447Ter) SNV Pathogenic 627472 rs1284633493 7:107334923-107334923 7:107694478-107694478 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1340del (p.Lys447fs) deletion Pathogenic 627473 rs1562835515 7:107334923-107334923 7:107694478-107694478 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1707+5G>A SNV Pathogenic 446457 rs192366176 7:107340625-107340625 7:107700180-107700180 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.82A>G (p.Ser28Gly) SNV Pathogenic 446459 rs1554352234 7:107302168-107302168 7:107661723-107661723 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.226C>T (p.Pro76Ser) SNV Pathogenic 446451 rs1554352676 7:107303802-107303802 7:107663357-107663357 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.601-1G>A SNV Pathogenic 446452 rs1554355011 7:107315389-107315389 7:107674944-107674944 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr) SNV Pathogenic 446453 rs201562855 7:107330593-107330593 7:107690148-107690148 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser) SNV Pathogenic 402277 rs1060499808 7:107344789-107344789 7:107704344-107704344 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.296C>G (p.Thr99Arg) SNV Pathogenic 417623 rs141142414 7:107303872-107303872 7:107663427-107663427 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1651dup (p.Ser551fs) duplication Pathogenic 446455 rs1554360678 7:107340560-107340561 7:107700115-107700116 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.2007C>A (p.Asp669Glu) SNV Pathogenic 446461 rs749013429 7:107342475-107342475 7:107702030-107702030 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.2074T>C (p.Phe692Leu) SNV Pathogenic 446462 rs1399914687 7:107344815-107344815 7:107704370-107704370 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.2106_2110dup (p.Glu704fs) duplication Pathogenic 446458 rs1554362735 7:107350514-107350515 7:107710069-107710070 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.917del (p.Val306fs) deletion Pathogenic 4815 7:107323798-107323798 7:107683353-107683353 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) SNV Pathogenic 43510 rs111033308 7:107336429-107336429 7:107695984-107695984 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) SNV Pathogenic 4817 rs80338848 7:107315496-107315496 7:107675051-107675051 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) SNV Pathogenic 4818 rs28939086 7:107330665-107330665 7:107690220-107690220 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1001+1G>A SNV Pathogenic 4819 rs80338849 7:107323983-107323983 7:107683538-107683538 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) SNV Pathogenic 4821 rs111033303 7:107315415-107315415 7:107674970-107674970 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1105A>G (p.Lys369Glu) SNV Pathogenic 4822 rs121908361 7:107329601-107329601 7:107689156-107689156 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1115C>T (p.Ala372Val) SNV Pathogenic 4823 rs121908364 7:107329611-107329611 7:107689166-107689166 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 SLC26A4, 5-BP INS, NT2111 insertion Pathogenic 4824 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) SNV Pathogenic 4826 rs121908363 7:107350571-107350571 7:107710126-107710126 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) SNV Pathogenic 4829 rs111033307 7:107334918-107334918 7:107694473-107694473 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) SNV Pathogenic 4839 rs111033205 7:107302171-107302171 7:107661726-107661726 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.919-2A>G SNV Pathogenic 4840 rs111033313 7:107323898-107323898 7:107683453-107683453 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1540C>A (p.Gln514Lys) SNV Pathogenic 4841 rs121908366 7:107336480-107336480 7:107696035-107696035 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) SNV Pathogenic 4835 rs111033199 7:107312690-107312690 7:107672245-107672245 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.581C>A (p.Pro194His) SNV Pathogenic 7469 rs137853073 1:160011742-160011742 1:160041952-160041952 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.800G>A (p.Arg267Gln) SNV Pathogenic 8450 rs121909341 5:169535278-169535278 5:170108274-170108274 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) SNV Pathogenic 43496 rs111033305 7:107330645-107330645 7:107690200-107690200 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) SNV Pathogenic 43498 rs111033220 7:107330648-107330648 7:107690203-107690203 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1614+1G>A SNV Pathogenic 43516 rs111033312 7:107338557-107338557 7:107698112-107698112 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg) SNV Pathogenic 43562 rs111033380 7:107314782-107314782 7:107674337-107674337 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.997dup (p.Arg333fs) duplication Pathogenic 97015 rs431905486 7:107323976-107323977 7:107683531-107683532 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.2089+1G>A SNV Pathogenic 165263 rs727503430 7:107344831-107344831 7:107704386-107704386 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile) SNV Pathogenic 371034 rs1057516953 7:107303857-107303857 7:107663412-107663412 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.2228T>A (p.Leu743Ter) SNV Pathogenic 371476 rs1057517303 7:107350637-107350637 7:107710192-107710192 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.916dup (p.Val306fs) duplication Pathogenic/Likely pathogenic 370192 rs768245266 7:107323796-107323797 7:107683351-107683352 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.918+2T>C SNV Pathogenic/Likely pathogenic 370108 rs912147281 7:107323801-107323801 7:107683356-107683356 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys) SNV Pathogenic/Likely pathogenic 371421 rs147952620 7:107330644-107330644 7:107690199-107690199 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) SNV Pathogenic/Likely pathogenic 188950 rs786204581 7:107303811-107303811 7:107663366-107663366 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser) SNV Pathogenic/Likely pathogenic 189160 rs786204739 7:107338528-107338528 7:107698083-107698083 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu) SNV Pathogenic/Likely pathogenic 188889 rs200455203 7:107342443-107342443 7:107701998-107701998 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter) SNV Pathogenic/Likely pathogenic 189164 rs752807925 7:107344827-107344827 7:107704382-107704382 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) SNV Pathogenic/Likely pathogenic 43566 rs111033256 7:107315505-107315505 7:107675060-107675060 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) deletion Pathogenic/Likely pathogenic 43494 rs397516413 7:107330616-107330616 7:107690171-107690171 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.-3-2A>G SNV Pathogenic/Likely pathogenic 43486 rs397516411 7:107302082-107302082 7:107661637-107661637 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4-AS1 NM_000441.2(SLC26A4):c.-3-2A>G SNV Pathogenic/Likely pathogenic 43486 rs397516411 7:107302082-107302082 7:107661637-107661637 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile) SNV Pathogenic/Likely pathogenic 4830 rs111033348 7:107314771-107314771 7:107674326-107674326 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) SNV Pathogenic/Likely pathogenic 4825 rs121908362 7:107350577-107350577 7:107710132-107710132 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val) SNV Pathogenic/Likely pathogenic 188793 rs786204474 7:107329575-107329575 7:107689130-107689130 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) SNV Pathogenic/Likely pathogenic 4820 rs111033244 7:107330570-107330570 7:107690125-107690125 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys) SNV Pathogenic/Likely pathogenic 446456 rs763006761 7:107340580-107340580 7:107700135-107700135 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro) SNV Pathogenic/Likely pathogenic 446454 rs1554360358 7:107338521-107338521 7:107698076-107698076 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1708-27_1708-11del deletion Likely pathogenic 446460 rs1554360816 7:107341514-107341530 7:107701069-107701085 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro) SNV Likely pathogenic 556159 rs201660407 7:107330681-107330681 7:107690236-107690236 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys) SNV Likely pathogenic 550172 rs1554359670 7:107335095-107335095 7:107694650-107694650 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.440T>C (p.Met147Thr) SNV Likely pathogenic 556648 rs1554354787 7:107314633-107314633 7:107674188-107674188 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1343C>G (p.Ser448Trp) SNV Likely pathogenic 627474 rs747076316 7:107335067-107335067 7:107694622-107694622 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1229C>A (p.Thr410Lys) SNV Likely pathogenic 691512 7:107330648-107330648 7:107690203-107690203 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer) deletion Likely pathogenic 188978 rs786204601 7:107336459-107336459 7:107696014-107696014 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly) SNV Likely pathogenic 228396 rs757820624 7:107350580-107350580 7:107710135-107710135 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr) SNV Likely pathogenic 4834 rs121908365 7:107312675-107312675 7:107672230-107672230 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr) SNV Likely pathogenic 43519 rs111033257 7:107340607-107340607 7:107700162-107700162 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) SNV Likely pathogenic 43565 rs111033242 7:107315495-107315495 7:107675050-107675050 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) SNV Likely pathogenic 43555 rs145254330 7:107312627-107312627 7:107672182-107672182 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) SNV Likely pathogenic 43533 rs111033318 7:107342495-107342495 7:107702050-107702050 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu) SNV Likely pathogenic 188842 rs370588279 7:107303845-107303845 7:107663400-107663400 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) SNV Likely pathogenic 189039 rs146281367 7:107323982-107323982 7:107683537-107683537 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.765+3A>C SNV Likely pathogenic 133301 rs483353048 7:107315557-107315557 7:107675112-107675112 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.1092A>G (p.Gln364=) SNV Conflicting interpretations of pathogenicity 137981 rs145588542 1:160011231-160011231 1:160041441-160041441 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.-43G>A SNV Conflicting interpretations of pathogenicity 137982 rs372841245 1:160039854-160039854 1:160070064-160070064 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile) SNV Conflicting interpretations of pathogenicity 179723 rs727505080 7:107323722-107323722 7:107683277-107683277 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=) SNV Conflicting interpretations of pathogenicity 179617 rs727504993 7:107329546-107329546 7:107689101-107689101 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.812G>A (p.Arg271His) SNV Conflicting interpretations of pathogenicity 129318 rs3795339 1:160011511-160011511 1:160041721-160041721 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys) SNV Conflicting interpretations of pathogenicity 43547 rs111033255 7:107355874-107355874 7:107715429-107715429 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) SNV Conflicting interpretations of pathogenicity 188878 rs542620119 7:107314747-107314747 7:107674302-107674302 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly) SNV Conflicting interpretations of pathogenicity 195165 rs145947380 1:160011793-160011793 1:160042003-160042003 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.726C>T (p.Ser242=) SNV Conflicting interpretations of pathogenicity 195276 rs35678180 5:169535204-169535204 5:170108200-170108200 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) SNV Conflicting interpretations of pathogenicity 43515 rs7811324 7:107302101-107302101 7:107661656-107661656 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) SNV Conflicting interpretations of pathogenicity 43532 rs111033309 7:107342483-107342483 7:107702038-107702038 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.416-13T>C SNV Conflicting interpretations of pathogenicity 43557 rs77553387 7:107314596-107314596 7:107674151-107674151 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp) SNV Conflicting interpretations of pathogenicity 43573 rs143002265 7:107323945-107323945 7:107683500-107683500 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) SNV Conflicting interpretations of pathogenicity 43524 rs111033423 7:107302103-107302103 7:107661658-107661658 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu) SNV Conflicting interpretations of pathogenicity 177738 rs200511789 7:107336408-107336408 7:107695963-107695963 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) SNV Conflicting interpretations of pathogenicity 43492 rs111033243 7:107329557-107329557 7:107689112-107689112 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys) SNV Conflicting interpretations of pathogenicity 7470 rs137853074 1:160011281-160011281 1:160041491-160041491 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) SNV Conflicting interpretations of pathogenicity 4842 rs111033212 7:107329499-107329499 7:107689054-107689054 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.136G>A (p.Asp46Asn) SNV Conflicting interpretations of pathogenicity 239110 rs141553756 1:160012187-160012187 1:160042397-160042397 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.825C>T (p.Ala275=) SNV Conflicting interpretations of pathogenicity 285399 rs147596900 5:169535303-169535303 5:170108299-170108299 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*1839C>T SNV Conflicting interpretations of pathogenicity 293099 rs138511291 1:160009344-160009344 1:160039554-160039554 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.225C>G (p.Leu75=) SNV Conflicting interpretations of pathogenicity 225473 rs187447337 7:107303801-107303801 7:107663356-107663356 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.735C>G (p.Asp245Glu) SNV Conflicting interpretations of pathogenicity 205815 rs146426296 1:160011588-160011588 1:160041798-160041798 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.615A>G (p.Lys205=) SNV Conflicting interpretations of pathogenicity 287539 rs142228240 1:160011708-160011708 1:160041918-160041918 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*2394T>C SNV Conflicting interpretations of pathogenicity 293088 rs116235450 1:160008789-160008789 1:160038999-160038999 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*3506C>T SNV Conflicting interpretations of pathogenicity 293072 rs79012831 1:160007677-160007677 1:160037887-160037887 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*2596A>G SNV Conflicting interpretations of pathogenicity 293082 rs116418256 1:160008587-160008587 1:160038797-160038797 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.308G>C (p.Gly103Ala) SNV Conflicting interpretations of pathogenicity 352703 rs370450076 5:169533269-169533269 5:170106265-170106265 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.318C>G (p.Asp106Glu) SNV Conflicting interpretations of pathogenicity 352704 rs114293092 5:169533279-169533279 5:170106275-170106275 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*2490G>A SNV Conflicting interpretations of pathogenicity 293085 rs190897143 1:160008693-160008693 1:160038903-160038903 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.972G>C (p.Pro324=) SNV Conflicting interpretations of pathogenicity 352710 rs56128152 5:169535450-169535450 5:170108446-170108446 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.486C>T (p.Leu162=) SNV Conflicting interpretations of pathogenicity 667159 7:107314679-107314679 7:107674234-107674234 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*2242T>C SNV Conflicting interpretations of pathogenicity 876371 1:160008941-160008941 1:160039151-160039151 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*2148A>G SNV Conflicting interpretations of pathogenicity 876372 1:160009035-160009035 1:160039245-160039245 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn) SNV Conflicting interpretations of pathogenicity 440275 rs138462416 7:107323677-107323677 7:107683232-107683232 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.1051G>A (p.Asp351Asn) SNV Conflicting interpretations of pathogenicity 451985 rs373899425 1:160011272-160011272 1:160041482-160041482 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.677C>T (p.Thr226Ile) SNV Conflicting interpretations of pathogenicity 497649 rs115399307 5:169535155-169535155 5:170108151-170108151 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.1018C>G (p.Pro340Ala) SNV Conflicting interpretations of pathogenicity 499783 rs141924917 5:169535496-169535496 5:170108492-170108492 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*376A>G SNV Conflicting interpretations of pathogenicity 912067 7:107356267-107356267 7:107715822-107715822 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*350C>T SNV Conflicting interpretations of pathogenicity 912065 7:107356241-107356241 7:107715796-107715796 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1491T>C (p.Gly497=) SNV Conflicting interpretations of pathogenicity 712915 7:107336431-107336431 7:107695986-107695986 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.528G>A (p.Ser176=) SNV Conflicting interpretations of pathogenicity 737313 5:169533489-169533489 5:170106485-170106485 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.2040C>T (p.Val680=) SNV Conflicting interpretations of pathogenicity 762514 7:107344781-107344781 7:107704336-107704336 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1614+7A>G SNV Conflicting interpretations of pathogenicity 592938 rs199643344 7:107338563-107338563 7:107698118-107698118 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*266T>A SNV Conflicting interpretations of pathogenicity 876468 1:160010917-160010917 1:160041127-160041127 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.1047C>T (p.Tyr349=) SNV Conflicting interpretations of pathogenicity 875494 1:160011276-160011276 1:160041486-160041486 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.822C>T (p.Gly274=) SNV Conflicting interpretations of pathogenicity 352706 rs149203108 5:169535300-169535300 5:170108296-170108296 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.601-5C>T SNV Conflicting interpretations of pathogenicity 358495 rs546450643 7:107315385-107315385 7:107674940-107674940 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.219G>A (p.Ala73=) SNV Conflicting interpretations of pathogenicity 378001 rs144495959 1:160012104-160012104 1:160042314-160042314 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.21G>A (p.Val7=) SNV Conflicting interpretations of pathogenicity 389522 rs750227861 1:160012302-160012302 1:160042512-160042512 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1265T>C (p.Val422Ala) SNV Conflicting interpretations of pathogenicity 378599 rs1057520369 7:107334849-107334849 7:107694404-107694404 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*614C>T SNV Conflicting interpretations of pathogenicity 358510 rs77315223 7:107356505-107356505 7:107716060-107716060 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*840C>T SNV Uncertain significance 358514 rs886061889 7:107356731-107356731 7:107716286-107716286 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.888C>T (p.Ile296=) SNV Uncertain significance 358498 rs765095794 7:107323769-107323769 7:107683324-107683324 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1110A>G (p.Val370=) SNV Uncertain significance 358500 rs886061886 7:107329606-107329606 7:107689161-107689161 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.*576T>A SNV Uncertain significance 352720 rs550861326 5:169536191-169536191 5:170109187-170109187 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.*986G>C SNV Uncertain significance 352723 rs111876035 5:169536601-169536601 5:170109597-170109597 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.-8G>A SNV Uncertain significance 358493 rs886061882 7:107301296-107301296 7:107660851-107660851 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.*418T>C SNV Uncertain significance 352716 rs886060402 5:169536033-169536033 5:170109029-170109029 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.*397A>T SNV Uncertain significance 352715 rs886060401 5:169536012-169536012 5:170109008-170109008 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.*486C>T SNV Uncertain significance 352718 rs886060403 5:169536101-169536101 5:170109097-170109097 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.30C>T (p.Ser10=) SNV Uncertain significance 352701 rs137901435 5:169532991-169532991 5:170105987-170105987 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.*707C>T SNV Uncertain significance 352721 rs886060404 5:169536322-169536322 5:170109318-170109318 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.1(SLC26A4):c.-139C>T SNV Uncertain significance 358492 rs879914861 7:107301165-107301165 7:107660720-107660720 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.2008G>A (p.Val670Ile) SNV Uncertain significance 358501 rs201689637 7:107342476-107342476 7:107702031-107702031 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*523A>G SNV Uncertain significance 358509 rs560536749 7:107356414-107356414 7:107715969-107715969 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*1123A>G SNV Uncertain significance 358517 rs141341508 7:107357014-107357014 7:107716569-107716569 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*1200G>A SNV Uncertain significance 358518 rs549659217 7:107357091-107357091 7:107716646-107716646 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*1875G>C SNV Uncertain significance 358525 rs886061892 7:107357766-107357766 7:107717321-107717321 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*1960T>A SNV Uncertain significance 358526 rs886061893 7:107357851-107357851 7:107717406-107717406 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*2047A>G SNV Uncertain significance 358527 rs534409544 7:107357938-107357938 7:107717493-107717493 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.1088G>T (p.Ser363Ile) SNV Uncertain significance 352712 rs150705492 5:169535566-169535566 5:170108562-170108562 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.872G>A (p.Arg291Gln) SNV Uncertain significance 358496 rs138816005 7:107323753-107323753 7:107683308-107683308 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.887T>A (p.Ile296Asn) SNV Uncertain significance 358497 rs886061884 7:107323768-107323768 7:107683323-107683323 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.2018T>G (p.Val673Gly) SNV Uncertain significance 358502 rs886061887 7:107342486-107342486 7:107702041-107702041 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.2135A>G (p.Asn712Ser) SNV Uncertain significance 358503 rs772522003 7:107350544-107350544 7:107710099-107710099 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*239C>T SNV Uncertain significance 358506 rs113516368 7:107356130-107356130 7:107715685-107715685 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*343C>A SNV Uncertain significance 358507 rs139104953 7:107356234-107356234 7:107715789-107715789 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*791A>G SNV Uncertain significance 358513 rs146458433 7:107356682-107356682 7:107716237-107716237 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*1277A>G SNV Uncertain significance 358519 rs560359006 7:107357168-107357168 7:107716723-107716723 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*1517G>C SNV Uncertain significance 358520 rs2712205 7:107357408-107357408 7:107716963-107716963 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*1610C>T SNV Uncertain significance 358522 rs192222034 7:107357501-107357501 7:107717056-107717056 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*1640G>T SNV Uncertain significance 358523 rs886061891 7:107357531-107357531 7:107717086-107717086 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*2147G>A SNV Uncertain significance 358528 rs886061894 7:107358038-107358038 7:107717593-107717593 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.1(SLC26A4):c.-186A>G SNV Uncertain significance 358491 rs555307083 7:107301118-107301118 7:107660673-107660673 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.371T>A (p.Ile124Asn) SNV Uncertain significance 358494 rs886061883 7:107312649-107312649 7:107672204-107672204 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1068C>T (p.Ile356=) SNV Uncertain significance 358499 rs886061885 7:107329564-107329564 7:107689119-107689119 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*69C>A SNV Uncertain significance 358505 rs76894072 7:107355960-107355960 7:107715515-107715515 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*409A>T SNV Uncertain significance 358508 rs752578836 7:107356300-107356300 7:107715855-107715855 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*618A>G SNV Uncertain significance 358511 rs886061888 7:107356509-107356509 7:107716064-107716064 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*780T>C SNV Uncertain significance 358512 rs527503006 7:107356671-107356671 7:107716226-107716226 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*1059T>C SNV Uncertain significance 358516 rs183926745 7:107356950-107356950 7:107716505-107716505 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.*248G>A SNV Uncertain significance 904690 5:169535863-169535863 5:170108859-170108859 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.63C>T (p.Ile21=) SNV Uncertain significance 904623 5:169533024-169533024 5:170106020-170106020 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.161A>G (p.Glu54Gly) SNV Uncertain significance 904624 5:169533122-169533122 5:170106118-170106118 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.269G>A (p.Gly90Glu) SNV Uncertain significance 904625 5:169533230-169533230 5:170106226-170106226 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.545A>G (p.Lys182Arg) SNV Uncertain significance 905416 5:169533506-169533506 5:170106502-170106502 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.727C>A (p.Pro243Thr) SNV Uncertain significance 905417 5:169535205-169535205 5:170108201-170108201 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.937G>C (p.Gly313Arg) SNV Uncertain significance 905931 5:169535415-169535415 5:170108411-170108411 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.1004G>A (p.Gly335Asp) SNV Uncertain significance 908000 5:169535482-169535482 5:170108478-170108478 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.1090G>A (p.Val364Ile) SNV Uncertain significance 908001 5:169535568-169535568 5:170108564-170108564 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.*74G>A SNV Uncertain significance 904688 5:169535689-169535689 5:170108685-170108685 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*347C>T SNV Uncertain significance 876467 1:160010836-160010836 1:160041046-160041046 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*868C>T SNV Uncertain significance 874515 1:160010315-160010315 1:160040525-160040525 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*793C>A SNV Uncertain significance 875442 1:160010390-160010390 1:160040600-160040600 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.*1094T>C SNV Uncertain significance 905993 5:169536709-169536709 5:170109705-170109705 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NC_000007.14:g.107660819C>T SNV Uncertain significance 910617 7:107301264-107301264 7:107660819-107660819 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.190G>A (p.Val64Met) SNV Uncertain significance 911848 7:107303766-107303766 7:107663321-107663321 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.278G>A (p.Ser93Asn) SNV Uncertain significance 908903 7:107303854-107303854 7:107663409-107663409 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.310G>A (p.Ala104Thr) SNV Uncertain significance 908904 7:107312588-107312588 7:107672143-107672143 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.364T>C (p.Phe122Leu) SNV Uncertain significance 908905 7:107312642-107312642 7:107672197-107672197 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.540T>G (p.Ala180=) SNV Uncertain significance 909771 7:107314733-107314733 7:107674288-107674288 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.678T>C (p.Ala226=) SNV Uncertain significance 910666 7:107315467-107315467 7:107675022-107675022 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.2078C>T (p.Ala693Val) SNV Uncertain significance 909894 7:107344819-107344819 7:107704374-107704374 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.2119G>A (p.Gly707Arg) SNV Uncertain significance 910782 7:107350528-107350528 7:107710083-107710083 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*16G>T SNV Uncertain significance 909093 7:107355907-107355907 7:107715462-107715462 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*36C>T SNV Uncertain significance 909094 7:107355927-107355927 7:107715482-107715482 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*120G>A SNV Uncertain significance 909947 7:107356011-107356011 7:107715566-107715566 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*200A>T SNV Uncertain significance 909948 7:107356091-107356091 7:107715646-107715646 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*201C>A SNV Uncertain significance 910830 7:107356092-107356092 7:107715647-107715647 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*202G>A SNV Uncertain significance 910831 7:107356093-107356093 7:107715648-107715648 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*351G>A SNV Uncertain significance 912066 7:107356242-107356242 7:107715797-107715797 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.*285A>G SNV Uncertain significance 904691 5:169535900-169535900 5:170108896-170108896 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.*679C>T SNV Uncertain significance 905989 5:169536294-169536294 5:170109290-170109290 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.*815C>T SNV Uncertain significance 905990 5:169536430-169536430 5:170109426-170109426 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.*840G>T SNV Uncertain significance 905991 5:169536455-169536455 5:170109451-170109451 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*397T>C SNV Uncertain significance 908056 7:107356288-107356288 7:107715843-107715843 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*1068T>C SNV Uncertain significance 910885 7:107356959-107356959 7:107716514-107716514 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*1466T>A SNV Uncertain significance 912132 7:107357357-107357357 7:107716912-107716912 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*1558T>C SNV Uncertain significance 908118 7:107357449-107357449 7:107717004-107717004 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*1563C>A SNV Uncertain significance 908119 7:107357454-107357454 7:107717009-107717009 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*1672G>A SNV Uncertain significance 910066 7:107357563-107357563 7:107717118-107717118 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*1682C>T SNV Uncertain significance 910067 7:107357573-107357573 7:107717128-107717128 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*1700A>T SNV Uncertain significance 910068 7:107357591-107357591 7:107717146-107717146 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*1735C>T SNV Uncertain significance 910069 7:107357626-107357626 7:107717181-107717181 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*1789G>A SNV Uncertain significance 910950 7:107357680-107357680 7:107717235-107717235 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*1836C>T SNV Uncertain significance 910951 7:107357727-107357727 7:107717282-107717282 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*1868C>G SNV Uncertain significance 910952 7:107357759-107357759 7:107717314-107717314 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*1905G>A SNV Uncertain significance 912194 7:107357796-107357796 7:107717351-107717351 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*1945G>A SNV Uncertain significance 912195 7:107357836-107357836 7:107717391-107717391 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*1982C>A SNV Uncertain significance 908188 7:107357873-107357873 7:107717428-107717428 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*2065G>A SNV Uncertain significance 908189 7:107357956-107357956 7:107717511-107717511 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*2093T>G SNV Uncertain significance 908190 7:107357984-107357984 7:107717539-107717539 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*2237A>G SNV Uncertain significance 910135 7:107358128-107358128 7:107717683-107717683 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*2307A>G SNV Uncertain significance 910136 7:107358198-107358198 7:107717753-107717753 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.2236-15G>A SNV Uncertain significance 912007 7:107352969-107352969 7:107712524-107712524 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.2236-6T>C SNV Uncertain significance 912008 7:107352978-107352978 7:107712533-107712533 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.511C>T (p.Arg171Trp) SNV Uncertain significance 537736 rs769666695 1:160011812-160011812 1:160042022-160042022 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.416G>C (p.Gly139Ala) SNV Uncertain significance 556091 rs756272252 7:107314609-107314609 7:107674164-107674164 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*51T>C SNV Uncertain significance 550244 rs371263685 7:107355942-107355942 7:107715497-107715497 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1409G>A (p.Arg470His) SNV Uncertain significance 550964 rs200779286 7:107335133-107335133 7:107694688-107694688 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.487G>A (p.Val163Ile) SNV Uncertain significance 550607 rs200229408 7:107314680-107314680 7:107674235-107674235 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe) SNV Uncertain significance 556671 rs760040670 7:107314749-107314749 7:107674304-107674304 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1195T>C (p.Ser399Pro) SNV Uncertain significance 554065 rs747431002 7:107330614-107330614 7:107690169-107690169 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.2009T>C (p.Val670Ala) SNV Uncertain significance 558599 rs200712253 7:107342477-107342477 7:107702032-107702032 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*2034C>T SNV Uncertain significance 874420 1:160009149-160009149 1:160039359-160039359 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*2001T>C SNV Uncertain significance 874421 1:160009182-160009182 1:160039392-160039392 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*3919G>A SNV Uncertain significance 876289 1:160007264-160007264 1:160037474-160037474 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*3737A>G SNV Uncertain significance 874309 1:160007446-160007446 1:160037656-160037656 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*3458G>A SNV Uncertain significance 875236 1:160007725-160007725 1:160037935-160037935 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*1809C>T SNV Uncertain significance 875332 1:160009374-160009374 1:160039584-160039584 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*1789G>A SNV Uncertain significance 875333 1:160009394-160009394 1:160039604-160039604 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*1258G>A SNV Uncertain significance 874464 1:160009925-160009925 1:160040135-160040135 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*1048A>T SNV Uncertain significance 874465 1:160010135-160010135 1:160040345-160040345 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*3158C>T SNV Uncertain significance 876200 1:160008025-160008025 1:160038235-160038235 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*3130C>A SNV Uncertain significance 876201 1:160008053-160008053 1:160038263-160038263 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*2896T>C SNV Uncertain significance 876336 1:160008287-160008287 1:160038497-160038497 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*2754G>C SNV Uncertain significance 874369 1:160008429-160008429 1:160038639-160038639 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*2624G>A SNV Uncertain significance 874370 1:160008559-160008559 1:160038769-160038769 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*2554G>A SNV Uncertain significance 875290 1:160008629-160008629 1:160038839-160038839 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*2516C>T SNV Uncertain significance 875291 1:160008667-160008667 1:160038877-160038877 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*2406T>C SNV Uncertain significance 876253 1:160008777-160008777 1:160038987-160038987 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*2479G>A SNV Uncertain significance 293086 rs142986779 1:160008704-160008704 1:160038914-160038914 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.568G>C (p.Asp190His) SNV Uncertain significance 352705 rs886060398 5:169533529-169533529 5:170106525-170106525 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.861C>G (p.Ala287=) SNV Uncertain significance 352707 rs145785746 5:169535339-169535339 5:170108335-170108335 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.938G>A (p.Gly313Glu) SNV Uncertain significance 352708 rs886060399 5:169535416-169535416 5:170108412-170108412 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.1013C>T (p.Ala338Val) SNV Uncertain significance 352711 rs367809742 5:169535491-169535491 5:170108487-170108487 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.*176G>T SNV Uncertain significance 352714 rs151161274 5:169535791-169535791 5:170108787-170108787 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.-18G>A SNV Uncertain significance 352700 rs764490860 5:169532944-169532944 5:170105940-170105940 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*1855T>C SNV Uncertain significance 293098 rs886045405 1:160009328-160009328 1:160039538-160039538 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*1827T>C SNV Uncertain significance 293100 rs886045406 1:160009356-160009356 1:160039566-160039566 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*1165G>A SNV Uncertain significance 293105 rs886045408 1:160010018-160010018 1:160040228-160040228 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*362A>T SNV Uncertain significance 293112 rs528816212 1:160010821-160010821 1:160041031-160041031 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.1123C>T (p.Arg375Cys) SNV Uncertain significance 293118 rs751338154 1:160011200-160011200 1:160041410-160041410 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*2827C>T SNV Uncertain significance 293079 rs183270733 1:160008356-160008356 1:160038566-160038566 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*2649G>A SNV Uncertain significance 293081 rs886045399 1:160008534-160008534 1:160038744-160038744 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*2520C>T SNV Uncertain significance 293084 rs886045401 1:160008663-160008663 1:160038873-160038873 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*1788C>T SNV Uncertain significance 293101 rs550315680 1:160009395-160009395 1:160039605-160039605 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*734C>T SNV Uncertain significance 293109 rs778432509 1:160010449-160010449 1:160040659-160040659 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*680T>G SNV Uncertain significance 293111 rs886045411 1:160010503-160010503 1:160040713-160040713 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*171C>T SNV Uncertain significance 293114 rs539110996 1:160011012-160011012 1:160041222-160041222 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*1435C>T SNV Uncertain significance 293104 rs150657925 1:160009748-160009748 1:160039958-160039958 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*991A>G SNV Uncertain significance 293107 rs187278337 1:160010192-160010192 1:160040402-160040402 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*73C>T SNV Uncertain significance 293115 rs184428585 1:160011110-160011110 1:160041320-160041320 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*21A>G SNV Uncertain significance 293117 rs377019389 1:160011162-160011162 1:160041372-160041372 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.405C>T (p.Tyr135=) SNV Uncertain significance 293119 rs765590257 1:160011918-160011918 1:160042128-160042128 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.296T>C (p.Leu99Pro) SNV Uncertain significance 293120 rs540341763 1:160012027-160012027 1:160042237-160042237 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*3770C>T SNV Uncertain significance 293070 rs886045394 1:160007413-160007413 1:160037623-160037623 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*3074C>T SNV Uncertain significance 293076 rs181875026 1:160008109-160008109 1:160038319-160038319 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.442C>G (p.Gln148Glu) SNV Uncertain significance 290061 rs553561553 5:169533403-169533403 5:170106399-170106399 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*3617A>T SNV Uncertain significance 293071 rs754184905 1:160007566-160007566 1:160037776-160037776 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*3170G>A SNV Uncertain significance 293074 rs886045395 1:160008013-160008013 1:160038223-160038223 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*3104T>A SNV Uncertain significance 293075 rs376496371 1:160008079-160008079 1:160038289-160038289 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*3023T>C SNV Uncertain significance 293077 rs886045396 1:160008160-160008160 1:160038370-160038370 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*2373C>T SNV Uncertain significance 293089 rs117037263 1:160008810-160008810 1:160039020-160039020 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.652C>T (p.Leu218Phe) SNV Uncertain significance 205829 rs558502886 1:160011671-160011671 1:160041881-160041881 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.301C>A (p.Pro101Thr) SNV Uncertain significance 205827 rs375361490 1:160012022-160012022 1:160042232-160042232 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.52C>T (p.Arg18Trp) SNV Uncertain significance 205817 rs138457635 1:160012271-160012271 1:160042481-160042481 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.997G>A (p.Gly333Ser) SNV Uncertain significance 286747 rs145046338 5:169535475-169535475 5:170108471-170108471 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1909C>A (p.Gln637Lys) SNV Uncertain significance 229255 rs375645779 7:107342377-107342377 7:107701932-107701932 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.148C>T (p.Leu50Phe) SNV Uncertain significance 282077 rs773510302 1:160012175-160012175 1:160042385-160042385 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*1653T>C SNV Uncertain significance 293103 rs886045407 1:160009530-160009530 1:160039740-160039740 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*1161T>C SNV Uncertain significance 293106 rs149832483 1:160010022-160010022 1:160040232-160040232 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*729G>C SNV Uncertain significance 293110 rs886045410 1:160010454-160010454 1:160040664-160040664 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*237A>G SNV Uncertain significance 293113 rs886045412 1:160010946-160010946 1:160041156-160041156 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*3853G>C SNV Uncertain significance 293068 rs138599071 1:160007330-160007330 1:160037540-160037540 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*3840T>C SNV Uncertain significance 293069 rs886045393 1:160007343-160007343 1:160037553-160037553 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*3180G>C SNV Uncertain significance 293073 rs758537153 1:160008003-160008003 1:160038213-160038213 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*2971G>A SNV Uncertain significance 293078 rs886045397 1:160008212-160008212 1:160038422-160038422 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.773G>A (p.Gly258Glu) SNV Uncertain significance 8449 rs121909340 5:169535251-169535251 5:170108247-170108247 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.-103T>C SNV Uncertain significance 4838 rs60284988 7:107301201-107301201 7:107660756-107660756 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.1(SLC26A4):c.-189A>T SNV Uncertain significance 43485 rs111033440 7:107301115-107301115 7:107660670-107660670 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro) SNV Uncertain significance 43527 rs397516423 7:107342392-107342392 7:107701947-107701947 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu) SNV Uncertain significance 43529 rs199588131 7:107342451-107342451 7:107702006-107702006 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val) SNV Uncertain significance 43545 rs111033310 7:107350628-107350628 7:107710183-107710183 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met) SNV Uncertain significance 43546 rs150597240 7:107353039-107353039 7:107712594-107712594 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu) SNV Uncertain significance 199023 rs150946659 7:107329536-107329536 7:107689091-107689091 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.1043G>A (p.Arg348His) SNV Uncertain significance 205823 rs146396982 1:160011280-160011280 1:160041490-160041490 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.691G>C (p.Val231Leu) SNV Uncertain significance 133300 rs483353047 7:107315480-107315480 7:107675035-107675035 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp) SNV Uncertain significance 179690 rs397516426 7:107342497-107342497 7:107702052-107702052 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) SNV Likely benign 227949 rs756969021 7:107302233-107302233 7:107661788-107661788 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.*924C>T SNV Likely benign 905992 5:169536539-169536539 5:170109535-170109535 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.*331G>C SNV Likely benign 904692 5:169535946-169535946 5:170108942-170108942 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.*556A>G SNV Likely benign 905481 5:169536171-169536171 5:170109167-170109167 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.*143A>T SNV Likely benign 904689 5:169535758-169535758 5:170108754-170108754 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*413G>A SNV Benign/Likely benign 876466 1:160010770-160010770 1:160040980-160040980 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*93C>T SNV Benign/Likely benign 873572 1:160011090-160011090 1:160041300-160041300 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*89C>T SNV Benign/Likely benign 873573 1:160011094-160011094 1:160041304-160041304 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*1302T>G SNV Benign/Likely benign 912131 7:107357193-107357193 7:107716748-107716748 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*1032G>A SNV Benign/Likely benign 874513 1:160010151-160010151 1:160040361-160040361 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*1027C>T SNV Benign/Likely benign 874514 1:160010156-160010156 1:160040366-160040366 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*1498T>G SNV Benign/Likely benign 876412 1:160009685-160009685 1:160039895-160039895 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*1430C>T SNV Benign/Likely benign 876413 1:160009753-160009753 1:160039963-160039963 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*1368C>T SNV Benign/Likely benign 876414 1:160009815-160009815 1:160040025-160040025 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*3250G>C SNV Benign/Likely benign 875237 1:160007933-160007933 1:160038143-160038143 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*1813C>A SNV Benign/Likely benign 875331 1:160009370-160009370 1:160039580-160039580 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*2062T>G SNV Benign/Likely benign 293090 rs1053074 1:160009121-160009121 1:160039331-160039331 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.279G>A (p.Arg93=) SNV Benign/Likely benign 352702 rs2277944 5:169533240-169533240 5:170106236-170106236 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.2130C>T (p.Asp710=) SNV Benign/Likely benign 43538 rs17154347 7:107350539-107350539 7:107710094-107710094 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) SNV Benign/Likely benign 43544 rs17154353 7:107350627-107350627 7:107710182-107710182 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) SNV Benign/Likely benign 43574 rs36039758 7:107323951-107323951 7:107683506-107683506 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.811C>T (p.Arg271Cys) SNV Benign/Likely benign 129317 rs1130183 1:160011512-160011512 1:160041722-160041722 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*11G>A SNV Benign/Likely benign 43484 rs113496951 7:107355902-107355902 7:107715457-107715457 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.1(SLC26A4):c.-66C>G SNV Benign/Likely benign 43487 rs17154282 7:107301238-107301238 7:107660793-107660793 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1002-9A>C SNV Benign/Likely benign 43489 rs10234822 7:107329489-107329489 7:107689044-107689044 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) SNV Benign/Likely benign 43525 rs55638457 7:107341628-107341628 7:107701183-107701183 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) SNV Benign/Likely benign 43526 rs17154335 7:107342294-107342294 7:107701849-107701849 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1488C>T (p.Leu496=) SNV Benign/Likely benign 43509 rs77407094 7:107336428-107336428 7:107695983-107695983 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.*119C>A SNV Benign/Likely benign 352713 rs6873124 5:169535734-169535734 5:170108730-170108730 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.*535A>G SNV Benign/Likely benign 352719 rs6555888 5:169536150-169536150 5:170109146-170109146 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*1797G>C SNV Benign 358524 rs76820337 7:107357688-107357688 7:107717243-107717243 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.*868G>A SNV Benign 358515 rs2712218 7:107356759-107356759 7:107716314-107716314 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) SNV Benign 43507 rs375576481 7:107335087-107335087 7:107694642-107694642 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr) SNV Benign 43491 rs145467740 7:107329565-107329565 7:107689120-107689120 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct SLC26A4 NM_000441.2(SLC26A4):c.416-7T>C SNV Benign 43558 rs111033387 7:107314602-107314602 7:107674157-107674157 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.*440G>A SNV Benign 352717 rs6555887 5:169536055-169536055 5:170109051-170109051 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*2040C>G SNV Benign 293091 rs2486254 1:160009143-160009143 1:160039353-160039353 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.1044T>C (p.Tyr348=) SNV Benign 260212 rs10063424 5:169535522-169535522 5:170108518-170108518 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct KCNJ10 NM_002241.5(KCNJ10):c.*1764T>G SNV Benign 293102 rs2486253 1:160009419-160009419 1:160039629-160039629 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct FOXI1 NM_012188.5(FOXI1):c.1014G>A (p.Ala338=) SNV Benign 768050 5:169535492-169535492 5:170108488-170108488 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct TRNS1 NC_012920.1:m.7445A>T SNV Pathogenic 631469 rs199474818 MT:7445-7445 MT:7445-7445 DFN349 Deafness, Nonsyndromic Sensorineural, Mitochondrial TRNS1 NC_012920.1:m.7462C>T SNV Pathogenic 631470 rs1569484151 MT:7462-7462 MT:7462-7462 DFN349 Deafness, Nonsyndromic Sensorineural, Mitochondrial TRNS1 NC_012920.1:m.7445A>G SNV Pathogenic 9563 rs199474818 MT:7445-7445 MT:7445-7445 DFN349 Deafness, Nonsyndromic Sensorineural, Mitochondrial TRNS1 m.7510T>C SNV Pathogenic 9565 rs199474820 MT:7510-7510 MT:7510-7510 DFN349 Deafness, Nonsyndromic Sensorineural, Mitochondrial TRNS1 m.7511T>C SNV Pathogenic 9566 rs199474821 MT:7511-7511 MT:7511-7511 DFN349 Deafness, Nonsyndromic Sensorineural, Mitochondrial TRNS1 m.7445A>C SNV Pathogenic 9568 rs199474818 MT:7445-7445 MT:7445-7445 DFN349 Deafness, Nonsyndromic Sensorineural, Mitochondrial TRNS1 NC_012920.1:m.7443A>G SNV Pathogenic 40158 rs397507452 MT:7443-7443 MT:7443-7443 DFN349 Deafness, Nonsyndromic Sensorineural, Mitochondrial TRNS1 NC_012920.1:m.7505T>C SNV Pathogenic 40885 rs724159989 MT:7505-7505 MT:7505-7505 DFN349 Deafness, Nonsyndromic Sensorineural, Mitochondrial TRNS1 m.7471_7472insC duplication Pathogenic 42226 rs111033319 MT:7465-7466 MT:7465-7466 DFN349 Deafness, Nonsyndromic Sensorineural, Mitochondrial RNR1 m.827A>G SNV drug response 9634 rs28358569 MT:827-827 MT:827-827 DFN349 Deafness, Nonsyndromic Sensorineural, Mitochondrial RNR1 NC_012920.1:m.1555A>G SNV drug response 9628 rs267606617 MT:1555-1555 MT:1555-1555 DFN349 Deafness, Nonsyndromic Sensorineural, Mitochondrial RNR1 m.1095T>C SNV drug response 9631 rs267606618 MT:1095-1095 MT:1095-1095 DFN349 Deafness, Nonsyndromic Sensorineural, Mitochondrial RNR1 m.1494C>T SNV drug response 9632 rs267606619 MT:1494-1494 MT:1494-1494 DFN349 Deafness, Nonsyndromic Sensorineural, Mitochondrial TRNS1 m.1494C>T SNV drug response 9632 rs267606619 MT:1494-1494 MT:1494-1494 DFN349 Deafness, Nonsyndromic Sensorineural, Mitochondrial TRNI m.4295A>G SNV Conflicting interpretations of pathogenicity 9603 rs121434467 MT:4295-4295 MT:4295-4295 DFN349 Deafness, Nonsyndromic Sensorineural, Mitochondrial TRNH m.12201T>C SNV Uncertain significance 30004 rs387906733 MT:12201-12201 MT:12201-12201 DFN349 Deafness, Nonsyndromic Sensorineural, Mitochondrial RNR1 m.961_962delTinsC(n) indel Uncertain significance 139642 MT:961-962 MT:961-962 DFN349 Deafness, Nonsyndromic Sensorineural, Mitochondrial RNR1 m.961T>G SNV Likely benign 9633 rs3888511 MT:961-961 MT:961-961 DFN349 Deafness, Nonsyndromic Sensorineural, Mitochondrial RNR1 m.1291T>C SNV Likely benign 9630 rs267606620 MT:1291-1291 MT:1291-1291 DFN349 Deafness, Nonsyndromic Sensorineural, Mitochondrial COX1 NC_012920.1:m.7444G>A SNV Benign 9663 rs199474822 MT:7444-7444 MT:7444-7444 DFN349 Deafness, Nonsyndromic Sensorineural, Mitochondrial TRNS1 NC_012920.1:m.7444G>A SNV Benign 9663 rs199474822 MT:7444-7444 MT:7444-7444 DFN349 Deafness, Nonsyndromic Sensorineural, Mitochondrial ND1 m.3388C>A SNV Benign 29998 rs387906730 MT:3388-3388 MT:3388-3388 DFN349 Deafness, Nonsyndromic Sensorineural, Mitochondrial MAPT NM_016835.4(MAPT):c.1866+16C>T SNV Pathogenic 98222 rs63751011 17:44087784-44087784 17:46010418-46010418 DMN002 Dementia PSEN1 NM_000021.4(PSEN1):c.314T>G (p.Phe105Cys) SNV Pathogenic 374134 rs1057518919 14:73637731-73637731 14:73171023-73171023 DMN002 Dementia PSEN1 NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu) SNV Pathogenic/Likely pathogenic 98080 rs63750301 14:73664760-73664760 14:73198052-73198052 DMN002 Dementia GBA NM_000157.4(GBA):c.1093G>A (p.Glu365Lys) SNV risk factor 199044 rs2230288 1:155206167-155206167 1:155236376-155236376 DMN002 Dementia SLC25A24 NM_013386.5(SLC25A24):c.758G>C (p.Gly253Ala) SNV Likely pathogenic 692155 1:108697669-108697669 1:108155047-108155047 DMN002 Dementia MRE11 NM_005591.3(MRE11):c.1727G>A (p.Arg576Gln) SNV Conflicting interpretations of pathogenicity 127974 rs139461096 11:94180441-94180441 11:94447275-94447275 DMN002 Dementia ND4 NC_012920.1:m.11815C>G SNV Uncertain significance 370053 rs879025367 MT:11815-11815 MT:11815-11815 DMN002 Dementia ND4 NC_012920.1:m.12013A>G SNV Uncertain significance 370056 rs1057516067 MT:12013-12013 MT:12013-12013 DMN002 Dementia ND4 NC_012920.1:m.12018C>G SNV Uncertain significance 370057 rs1057516068 MT:12018-12018 MT:12018-12018 DMN002 Dementia SLC25A24 NM_013386.5(SLC25A24):c.1273C>A (p.Leu425Met) SNV Uncertain significance 692156 1:108679436-108679436 1:108136814-108136814 DMN002 Dementia TYROBP NM_003332.3(TYROBP):c.94G>A (p.Asp32Asn) SNV Uncertain significance 374122 rs758290972 19:36398632-36398632 19:35907730-35907730 DMN002 Dementia MRE11 NM_005591.3(MRE11):c.229G>A (p.Glu77Lys) SNV Uncertain significance 481777 rs779269083 11:94219175-94219175 11:94486009-94486009 DMN002 Dementia CFAP53 NM_145020.5(CFAP53):c.301_473+1del deletion Likely pathogenic 488411 rs1555672928 18:47787433-47787606 18:50261063-50261236 DXT001 Dextrocardia CFAP53 NM_145020.5(CFAP53):c.472A>G (p.Arg158Gly) SNV Likely pathogenic 217132 rs886037751 18:47787435-47787435 18:50261065-50261065 DXT001 Dextrocardia ROCK2 NM_004850.5(ROCK2):c.3724C>T (p.Gln1242Ter) SNV Uncertain significance 545556 rs1558277937 2:11332802-11332802 2:11192676-11192676 DXT001 Dextrocardia ZFYVE16 NM_001284236.3(ZFYVE16):c.1798G>A (p.Asp600Asn) SNV Uncertain significance 545559 rs1561277007 5:79734302-79734302 5:80438483-80438483 DXT001 Dextrocardia ZFYVE16 NM_001284236.3(ZFYVE16):c.3755G>C (p.Gly1252Ala) SNV Uncertain significance 545560 rs1561310640 5:79752344-79752344 5:80456525-80456525 DXT001 Dextrocardia RAI2 NM_021785.5(RAI2):c.712G>A (p.Val238Ile) SNV Uncertain significance 545561 rs1208705303 X:17819419-17819419 X:17801299-17801299 DXT001 Dextrocardia SUPT16H NM_007192.4(SUPT16H):c.956-1G>A SNV Uncertain significance 545562 rs1566388186 14:21834689-21834689 14:21366530-21366530 DXT001 Dextrocardia TRNL1 NC_012920.1:m.3243A>G SNV Pathogenic 9589 rs199474657 MT:3243-3243 MT:3243-3243 DBT090 Diabetes and Deafness, Maternally Inherited TRNE NC_012920.1:m.14692A>G SNV Pathogenic 267298 rs879192165 MT:14692-14692 MT:14692-14692 DBT090 Diabetes and Deafness, Maternally Inherited TRNE m.14709T>C SNV Pathogenic/Likely pathogenic 9617 rs121434453 MT:14709-14709 MT:14709-14709 DBT090 Diabetes and Deafness, Maternally Inherited TRNK m.8296A>G SNV Benign 9584 rs118192102 MT:8296-8296 MT:8296-8296 DBT090 Diabetes and Deafness, Maternally Inherited CELA2A NM_033440.3(CELA2A):c.209C>T (p.Thr70Met) SNV Pathogenic 633595 1:15788135-15788135 1:15461640-15461640 DBT009 Diabetes Mellitus CELA2A NM_033440.3(CELA2A):c.253C>A (p.Leu85Met) SNV Pathogenic 633593 1:15789253-15789253 1:15462758-15462758 DBT009 Diabetes Mellitus CELA2A NM_033440.3(CELA2A):c.361G>A (p.Asp121Asn) SNV Pathogenic 633592 1:15789885-15789885 1:15463390-15463390 DBT009 Diabetes Mellitus CELA2A NM_033440.3(CELA2A):c.639+1G>C SNV Pathogenic 633594 1:15792640-15792640 1:15466145-15466145 DBT009 Diabetes Mellitus HNF1A NM_000545.8(HNF1A):c.1139del (p.Val380fs) deletion Pathogenic 916726 12:121434375-121434375 12:120996572-120996572 DBT009 Diabetes Mellitus HNF1A NM_000545.8(HNF1A):c.1310-1G>A SNV Pathogenic 916727 12:121435276-121435276 12:120997473-120997473 DBT009 Diabetes Mellitus WFS1 NM_006005.3(WFS1):c.1362_1377del (p.Pro453_Tyr454insTer) deletion Pathogenic 916728 4:6302884-6302899 4:6301157-6301172 DBT009 Diabetes Mellitus PMM2 NM_000303.3(PMM2):c.422G>A (p.Arg141His) SNV Pathogenic 7706 rs28936415 16:8905010-8905010 16:8811153-8811153 DBT009 Diabetes Mellitus KCNJ11 NM_000525.3(KCNJ11):c.601C>T (p.Arg201Cys) SNV Pathogenic 8668 rs80356625 11:17409038-17409038 11:17387491-17387491 DBT009 Diabetes Mellitus KCNJ11 NM_000525.3(KCNJ11):c.964G>A (p.Glu322Lys) SNV Pathogenic 21203 rs193929355 11:17408675-17408675 11:17387128-17387128 DBT009 Diabetes Mellitus KCNJ11 NM_000525.3(KCNJ11):c.988T>C (p.Tyr330His) SNV Pathogenic 158688 rs587783675 11:17408651-17408651 11:17387104-17387104 DBT009 Diabetes Mellitus KCNJ11 NM_000525.3(KCNJ11):c.685G>A (p.Glu229Lys) SNV Pathogenic 158683 rs587783673 11:17408954-17408954 11:17387407-17387407 DBT009 Diabetes Mellitus KCNJ11 NM_000525.3(KCNJ11):c.679G>A (p.Glu227Lys) SNV Pathogenic 158682 rs587783672 11:17408960-17408960 11:17387413-17387413 DBT009 Diabetes Mellitus MEN1 NM_000244.3(MEN1):c.669+1del deletion Pathogenic 374107 rs1057518903 11:64575362-64575362 11:64807890-64807890 DBT009 Diabetes Mellitus PMM2 NM_000303.3(PMM2):c.584A>G (p.His195Arg) SNV Likely pathogenic 812999 16:8906908-8906908 16:8813051-8813051 DBT009 Diabetes Mellitus KCNJ11 NM_000525.3(KCNJ11):c.498C>G (p.Cys166Trp) SNV Likely pathogenic 158676 rs587783669 11:17409141-17409141 11:17387594-17387594 DBT009 Diabetes Mellitus INS NM_000207.3(INS):c.174del (p.Glu59fs) deletion Likely pathogenic 916729 11:2182028-2182028 11:2160798-2160798 DBT009 Diabetes Mellitus INS-IGF2 NM_000207.3(INS):c.174del (p.Glu59fs) deletion Likely pathogenic 916729 11:2182028-2182028 11:2160798-2160798 DBT009 Diabetes Mellitus ARMC9 NM_001352754.2(ARMC9):c.636G>C (p.Gln212His) SNV Conflicting interpretations of pathogenicity 739322 2:232099950-232099950 2:231235237-231235237 DBT009 Diabetes Mellitus ABCC8 NM_000352.6(ABCC8):c.1562G>A (p.Arg521Gln) SNV Conflicting interpretations of pathogenicity 157683 rs368114790 11:17464335-17464335 11:17442788-17442788 DBT009 Diabetes Mellitus KCNJ11 NM_000525.3(KCNJ11):c.463G>A (p.Val155Met) SNV Uncertain significance 158675 rs587783668 11:17409176-17409176 11:17387629-17387629 DBT009 Diabetes Mellitus KLF11 NM_003597.5(KLF11):c.1077G>A (p.Met359Ile) SNV Uncertain significance 330636 rs146486664 2:10188541-10188541 2:10048414-10048414 DBT009 Diabetes Mellitus CEL NM_001807.5(CEL):c.1966G>C (p.Ala656Pro) SNV Uncertain significance 128688 rs587780309 9:135946855-135946855 9:133071468-133071468 DBT009 Diabetes Mellitus PPARG NM_005037.5(PPARG):c.-2-29900A>G SNV association 440735 rs1553638903 3:12391303-12391303 3:12349804-12349804 DBT026 Diabetes Mellitus, Noninsulin-Dependent PPARG NM_005037.5(PPARG):c.-2-29880A>T SNV association 440734 rs1553638909 3:12391323-12391323 3:12349824-12349824 DBT026 Diabetes Mellitus, Noninsulin-Dependent PPARG NM_005037.5(PPARG):c.-2-28918A>C SNV association 440733 rs948820149 3:12392285-12392285 3:12350786-12350786 DBT026 Diabetes Mellitus, Noninsulin-Dependent SLC2A2 NM_000340.2(SLC2A2):c.1331G>A (p.Trp444Ter) SNV Affects 444009 rs1553784995 3:170716025-170716025 3:170998236-170998236 DBT026 Diabetes Mellitus, Noninsulin-Dependent SLC30A8 NM_001172813.2(SLC30A8):c.265C>T (p.Arg89Ter) SNV protective 141421 rs200185429 8:118165323-118165323 8:117153084-117153084 DBT026 Diabetes Mellitus, Noninsulin-Dependent SLC30A8 NM_001172813.2(SLC30A8):c.-47_-41del deletion protective 141422 rs587777582 8:118159221-118159227 8:117146982-117146988 DBT026 Diabetes Mellitus, Noninsulin-Dependent HNF4A NM_175914.4(HNF4A):c.187C>T (p.Arg63Trp) SNV Pathogenic 156152 rs587777732 20:43034835-43034835 20:44406195-44406195 DBT026 Diabetes Mellitus, Noninsulin-Dependent GCK NM_000162.5(GCK):c.544G>A (p.Val182Met) SNV Pathogenic 129144 rs587780345 7:44189603-44189603 7:44150004-44150004 DBT026 Diabetes Mellitus, Noninsulin-Dependent GCK NM_000162.5(GCK):c.766G>A (p.Glu256Lys) SNV Pathogenic 265175 rs769268803 7:44187346-44187346 7:44147747-44147747 DBT026 Diabetes Mellitus, Noninsulin-Dependent GCK NM_000162.5(GCK):c.667G>A (p.Gly223Ser) SNV Pathogenic 435306 rs1360415315 7:44189371-44189371 7:44149772-44149772 DBT026 Diabetes Mellitus, Noninsulin-Dependent SLC2A2 NM_000340.2(SLC2A2):c.963+1G>A SNV Pathogenic 444008 rs371977235 3:170723073-170723073 3:171005284-171005284 DBT026 Diabetes Mellitus, Noninsulin-Dependent HNF1A NM_000545.6(HNF1A):c.814C>T (p.Arg272Cys) SNV Pathogenic 447503 rs1555212014 12:121432067-121432067 12:120994264-120994264 DBT026 Diabetes Mellitus, Noninsulin-Dependent KCNJ11 NM_000525.3(KCNJ11):c.967dup (p.Asp323fs) duplication Pathogenic 478917 rs1554901596 11:17408671-17408672 11:17387124-17387125 DBT026 Diabetes Mellitus, Noninsulin-Dependent ABCC8 NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) SNV Pathogenic 495834 rs72559734 11:17496502-17496502 11:17474955-17474955 DBT026 Diabetes Mellitus, Noninsulin-Dependent WFS1 NM_006005.3(WFS1):c.330C>A (p.Tyr110Ter) SNV Pathogenic 523067 rs1553876668 4:6290728-6290728 4:6289001-6289001 DBT026 Diabetes Mellitus, Noninsulin-Dependent TBC1D4 NM_014832.5(TBC1D4):c.3122G>A (p.Arg1041His) SNV Pathogenic 562223 rs199560195 13:75873500-75873500 13:75299364-75299364 DBT026 Diabetes Mellitus, Noninsulin-Dependent INSR NM_000208.4(INSR):c.3601C>T (p.Arg1201Trp) SNV Pathogenic 562225 rs1568426700 19:7120689-7120689 19:7120678-7120678 DBT026 Diabetes Mellitus, Noninsulin-Dependent PRMT7 NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter) SNV Pathogenic 523434 rs1251713297 16:68389688-68389688 16:68355785-68355785 DBT026 Diabetes Mellitus, Noninsulin-Dependent HNF1B NM_000458.4(HNF1B):c.232G>T (p.Glu78Ter) SNV Pathogenic 635724 17:36104644-36104644 17:37744653-37744653 DBT026 Diabetes Mellitus, Noninsulin-Dependent MAPK8IP1 NM_005456.4(MAPK8IP1):c.176G>A (p.Ser59Asn) SNV Pathogenic 5419 rs119489103 11:45919710-45919710 11:45898159-45898159 DBT026 Diabetes Mellitus, Noninsulin-Dependent NEUROD1 NM_002500.4(NEUROD1):c.332G>T (p.Arg111Leu) SNV Pathogenic 7853 rs104893649 2:182543256-182543256 2:181678529-181678529 DBT026 Diabetes Mellitus, Noninsulin-Dependent PPP1R3A PPP1R3A, 2-BP DEL, 1985AG deletion Pathogenic 8707 DBT026 Diabetes Mellitus, Noninsulin-Dependent PDX1 NM_000209.4(PDX1):c.492G>T (p.Glu164Asp) SNV Pathogenic,risk factor 8864 rs80356661 13:28498478-28498478 13:27924341-27924341 DBT026 Diabetes Mellitus, Noninsulin-Dependent ABCC8 NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys) SNV Pathogenic 9105 rs137852673 11:17417462-17417462 11:17395915-17395915 DBT026 Diabetes Mellitus, Noninsulin-Dependent ABCC8 NM_000352.6(ABCC8):c.1744C>G (p.Leu582Val) SNV Pathogenic 9106 rs137852674 11:17452434-17452434 11:17430887-17430887 DBT026 Diabetes Mellitus, Noninsulin-Dependent PAX4 NM_001366110.1(PAX4):c.385C>T (p.Arg129Trp) SNV Pathogenic 13790 rs114202595 7:127254587-127254587 7:127614533-127614533 DBT026 Diabetes Mellitus, Noninsulin-Dependent AKT2 NM_001626.6(AKT2):c.821G>A (p.Arg274His) SNV Pathogenic 13982 rs121434593 19:40743886-40743886 19:40237979-40237979 DBT026 Diabetes Mellitus, Noninsulin-Dependent INSR NM_000208.4(INSR):c.3481G>A (p.Ala1161Thr) SNV Pathogenic 14687 rs121913139 19:7122673-7122673 19:7122662-7122662 DBT026 Diabetes Mellitus, Noninsulin-Dependent INSR NM_000208.4(INSR):c.3572G>A (p.Arg1191Gln) SNV Pathogenic 14700 rs121913150 19:7120718-7120718 19:7120707-7120707 DBT026 Diabetes Mellitus, Noninsulin-Dependent INSR NM_000208.4(INSR):c.3540G>A (p.Met1180Ile) SNV Pathogenic 14709 rs121913157 19:7120750-7120750 19:7120739-7120739 DBT026 Diabetes Mellitus, Noninsulin-Dependent HNF1A NM_000545.6(HNF1A):c.1340C>T (p.Pro447Leu) SNV Pathogenic 14928 rs137853236 12:121435307-121435307 12:120997504-120997504 DBT026 Diabetes Mellitus, Noninsulin-Dependent GPD2 NM_000408.5(GPD2):c.1904T>C (p.Phe635Ser) SNV Pathogenic 16081 rs121918407 2:157435621-157435621 2:156579109-156579109 DBT026 Diabetes Mellitus, Noninsulin-Dependent GCK NM_000162.5(GCK):c.556C>T (p.Arg186Ter) SNV Pathogenic 16133 rs104894006 7:44189591-44189591 7:44149992-44149992 DBT026 Diabetes Mellitus, Noninsulin-Dependent IRS1 NM_005544.2(IRS1):c.1823C>G (p.Thr608Arg) SNV Pathogenic 29762 rs104893642 2:227661632-227661632 2:226796916-226796916 DBT026 Diabetes Mellitus, Noninsulin-Dependent IRS1 NM_005544.2(IRS1):c.2164_2166GGT[1] (p.Gly723del) short repeat Pathogenic 29760 rs1259467443 2:227661286-227661288 2:226796570-226796572 DBT026 Diabetes Mellitus, Noninsulin-Dependent ABCC8 NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter) SNV Pathogenic/Likely pathogenic 35617 rs193922402 11:17417158-17417158 11:17395611-17395611 DBT026 Diabetes Mellitus, Noninsulin-Dependent KCNJ11 NM_000525.3(KCNJ11):c.844G>A (p.Glu282Lys) SNV Pathogenic/Likely pathogenic 8686 rs267607196 11:17408795-17408795 11:17387248-17387248 DBT026 Diabetes Mellitus, Noninsulin-Dependent PRMT7 NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter) SNV Pathogenic/Likely pathogenic 523435 rs1014959895 16:68363008-68363008 16:68329105-68329105 DBT026 Diabetes Mellitus, Noninsulin-Dependent ABCC8 NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg) SNV Pathogenic/Likely pathogenic 434045 rs72559715 11:17415926-17415926 11:17394379-17394379 DBT026 Diabetes Mellitus, Noninsulin-Dependent ABCC8 NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) SNV Pathogenic/Likely pathogenic 188915 rs72559722 11:17434263-17434263 11:17412716-17412716 DBT026 Diabetes Mellitus, Noninsulin-Dependent GCK NM_000162.5(GCK):c.676G>A (p.Val226Met) SNV Pathogenic/Likely pathogenic 36243 rs148311934 7:44189362-44189362 7:44149763-44149763 DBT026 Diabetes Mellitus, Noninsulin-Dependent WRN NM_000553.6(WRN):c.724+1G>T SNV Likely pathogenic 523380 rs1339616347 8:30925844-30925844 8:31068328-31068328 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJ NM_005349.3(RBPJ):c.193A>G (p.Arg65Gly) SNV Likely pathogenic 523586 rs1553878211 4:26407891-26407891 4:26406269-26406269 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJL NC_000020.10:g.43914005C>G SNV risk factor 444105 rs76474829 20:43914005-43914005 20:45285365-45285365 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJL NM_014276.4(RBPJL):c.839C>T (p.Thr280Met) SNV risk factor 445144 rs200998587 20:43942756-43942756 20:45314116-45314116 DBT026 Diabetes Mellitus, Noninsulin-Dependent PPP1R3A NM_002711.4(PPP1R3A):c.2713G>T (p.Asp905Tyr) SNV risk factor 8706 rs1799999 7:113518434-113518434 7:113878379-113878379 DBT026 Diabetes Mellitus, Noninsulin-Dependent PDX1 NM_000209.4(PDX1):c.176A>T (p.Gln59Leu) SNV risk factor 8860 rs137852784 13:28494451-28494451 13:27920314-27920314 DBT026 Diabetes Mellitus, Noninsulin-Dependent PDX1 PDX1, 3-BP INS, 243CCG insertion risk factor 8861 DBT026 Diabetes Mellitus, Noninsulin-Dependent PDX1 NM_000209.4(PDX1):c.52T>C (p.Cys18Arg) SNV Likely pathogenic 8862 rs137852785 13:28494327-28494327 13:27920190-27920190 DBT026 Diabetes Mellitus, Noninsulin-Dependent LIPC NM_000236.2(LIPC):c.-293G>A SNV risk factor 14454 rs2070895 15:58723939-58723939 15:58431740-58431740 DBT026 Diabetes Mellitus, Noninsulin-Dependent ABCC8 NM_001287174.2(ABCC8):c.290+2T>C SNV Likely pathogenic 552247 rs1554948310 11:17496431-17496431 11:17474884-17474884 DBT026 Diabetes Mellitus, Noninsulin-Dependent PTPN1 NM_002827.4(PTPN1):c.*104dup duplication risk factor 13315 rs16989673 20:49199355-49199356 20:50582818-50582819 DBT026 Diabetes Mellitus, Noninsulin-Dependent ENPP1 ENPP1, IVS20AS, 1-BP DEL, T, -11 deletion risk factor 13584 DBT026 Diabetes Mellitus, Noninsulin-Dependent GCK NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) SNV Likely pathogenic 36200 rs193922283 7:44184775-44184775 7:44145176-44145176 DBT026 Diabetes Mellitus, Noninsulin-Dependent IRS1 NM_005544.2(IRS1):c.2911G>A (p.Gly971Arg) SNV risk factor 29761 rs1801278 2:227660544-227660544 2:226795828-226795828 DBT026 Diabetes Mellitus, Noninsulin-Dependent HMGA1 HMGA1, 1-BP INS, IVS5, -13 insertion risk factor 30122 DBT026 Diabetes Mellitus, Noninsulin-Dependent MTNR1B NM_005959.3(MTNR1B):c.124G>C (p.Ala42Pro) SNV risk factor 30127 rs387906779 11:92703015-92703015 11:92969849-92969849 DBT026 Diabetes Mellitus, Noninsulin-Dependent MTNR1B NM_005959.3(MTNR1B):c.179T>G (p.Leu60Arg) SNV risk factor 30128 rs141804752 11:92703070-92703070 11:92969904-92969904 DBT026 Diabetes Mellitus, Noninsulin-Dependent MTNR1B NM_005959.3(MTNR1B):c.284C>T (p.Pro95Leu) SNV risk factor 30129 rs182349376 11:92714673-92714673 11:92981507-92981507 DBT026 Diabetes Mellitus, Noninsulin-Dependent MTNR1B NM_005959.3(MTNR1B):c.923A>C (p.Tyr308Ser) SNV risk factor 30130 rs184917682 11:92715312-92715312 11:92982146-92982146 DBT026 Diabetes Mellitus, Noninsulin-Dependent HNF1A NM_000545.6(HNF1A):c.955G>A (p.Gly319Ser) SNV risk factor 14934 rs137853240 12:121432208-121432208 12:120994405-120994405 DBT026 Diabetes Mellitus, Noninsulin-Dependent IL6 IL6, -174G-C SNV risk factor 14718 DBT026 Diabetes Mellitus, Noninsulin-Dependent IRS2 NM_003749.3(IRS2):c.3170G>A (p.Gly1057Asp) SNV risk factor 8820 rs1805097 13:110435231-110435231 13:109782884-109782884 DBT026 Diabetes Mellitus, Noninsulin-Dependent IRS2 NM_003749.3(IRS2):c.1939C>G (p.Leu647Val) SNV risk factor 8821 rs137852740 13:110436462-110436462 13:109784115-109784115 DBT026 Diabetes Mellitus, Noninsulin-Dependent PDX1 NM_000209.4(PDX1):c.590G>A (p.Arg197His) SNV risk factor 8858 rs137852786 13:28498576-28498576 13:27924439-27924439 DBT026 Diabetes Mellitus, Noninsulin-Dependent ABCC8 NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) SNV drug response 8678 rs5219 11:17409572-17409572 11:17388025-17388025 DBT026 Diabetes Mellitus, Noninsulin-Dependent KCNJ11 NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) SNV drug response 8678 rs5219 11:17409572-17409572 11:17388025-17388025 DBT026 Diabetes Mellitus, Noninsulin-Dependent HNF1A NM_000545.8(HNF1A):c.43G>T (p.Ala15Ser) SNV Likely pathogenic 915441 12:121416614-121416614 12:120978811-120978811 DBT026 Diabetes Mellitus, Noninsulin-Dependent TCF7L2 NM_001146274.2(TCF7L2):c.450+33966C>T SNV drug response 7413 rs7903146 10:114758349-114758349 10:112998590-112998590 DBT026 Diabetes Mellitus, Noninsulin-Dependent TCF7L2 NM_001146274.2(TCF7L2):c.552+9017G>T SNV risk factor 7414 rs12255372 10:114808902-114808902 10:113049143-113049143 DBT026 Diabetes Mellitus, Noninsulin-Dependent TCF7L2 NM_001146274.2(TCF7L2):c.552+7162G>C SNV risk factor 7415 rs11196205 10:114807047-114807047 10:113047288-113047288 DBT026 Diabetes Mellitus, Noninsulin-Dependent RETN RETN, +62G-A SNV risk factor 4884 DBT026 Diabetes Mellitus, Noninsulin-Dependent CAPN10 NM_023083.4(CAPN10):c.471-176G>A SNV risk factor 5093 rs3792267 2:241531174-241531174 2:240591757-240591757 DBT026 Diabetes Mellitus, Noninsulin-Dependent CAPN10 NM_023083.4(CAPN10):c.997+136_998-148dup duplication risk factor 5094 rs3842570 2:241534241-241534242 2:240594824-240594825 DBT026 Diabetes Mellitus, Noninsulin-Dependent CAPN10 NC_000002.12:g.240603286C>T SNV risk factor 5095 rs5030952 2:241542703-241542703 2:240603286-240603286 DBT026 Diabetes Mellitus, Noninsulin-Dependent CAPN10 NM_023083.4(CAPN10):c.471-187T>C SNV risk factor 5096 rs2975760 2:241531163-241531163 2:240591746-240591746 DBT026 Diabetes Mellitus, Noninsulin-Dependent IRS1 NM_005544.2(IRS1):c.158G>A (p.Trp53Ter) SNV Likely pathogenic 804395 2:227663297-227663297 2:226798581-226798581 DBT026 Diabetes Mellitus, Noninsulin-Dependent SLC30A8 NM_001172813.2(SLC30A8):c.826C>T (p.Arg276Trp) SNV risk factor 1000 rs13266634 8:118184783-118184783 8:117172544-117172544 DBT026 Diabetes Mellitus, Noninsulin-Dependent IGF2BP2 NM_006548.6(IGF2BP2):c.239+29254C>A SNV risk factor 2435 rs4402960 3:185511687-185511687 3:185793899-185793899 DBT026 Diabetes Mellitus, Noninsulin-Dependent PDX1 NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) SNV Conflicting interpretations of pathogenicity 8859 rs137852783 13:28494501-28494501 13:27920364-27920364 DBT026 Diabetes Mellitus, Noninsulin-Dependent ABCC8 NM_001287174.2(ABCC8):c.413-5G>A SNV Conflicting interpretations of pathogenicity 35613 rs186946111 11:17485156-17485156 11:17463609-17463609 DBT026 Diabetes Mellitus, Noninsulin-Dependent HNF1B NM_000458.4(HNF1B):c.1395C>G (p.Ser465Arg) SNV Conflicting interpretations of pathogenicity 12641 rs121918673 17:36061127-36061127 17:37701122-37701122 DBT026 Diabetes Mellitus, Noninsulin-Dependent INSR NM_000208.4(INSR):c.3034G>A (p.Val1012Met) SNV Conflicting interpretations of pathogenicity 14707 rs1799816 19:7125518-7125518 19:7125507-7125507 DBT026 Diabetes Mellitus, Noninsulin-Dependent HNF1A NM_000545.6(HNF1A):c.1135C>G (p.Pro379Ala) SNV Conflicting interpretations of pathogenicity 431970 rs754729248 12:121434371-121434371 12:120996568-120996568 DBT026 Diabetes Mellitus, Noninsulin-Dependent ABCC8 NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr) SNV Conflicting interpretations of pathogenicity 434050 rs138687850 11:17448642-17448642 11:17427095-17427095 DBT026 Diabetes Mellitus, Noninsulin-Dependent HNF1A NM_000545.6(HNF1A):c.1501+6C>T SNV Conflicting interpretations of pathogenicity 435420 rs374306837 12:121435474-121435474 12:120997671-120997671 DBT026 Diabetes Mellitus, Noninsulin-Dependent HNF1A NM_000545.6(HNF1A):c.92G>A (p.Gly31Asp) SNV Conflicting interpretations of pathogenicity 14948 rs137853247 12:121416663-121416663 12:120978860-120978860 DBT026 Diabetes Mellitus, Noninsulin-Dependent HNF4A NM_175914.4(HNF4A):c.439G>A (p.Val147Ile) SNV Conflicting interpretations of pathogenicity 36353 rs142204928 20:43043159-43043159 20:44414519-44414519 DBT026 Diabetes Mellitus, Noninsulin-Dependent WFS1 NM_006005.3(WFS1):c.683G>A (p.Arg228His) SNV Conflicting interpretations of pathogenicity 198190 rs150771247 4:6293695-6293695 4:6291968-6291968 DBT026 Diabetes Mellitus, Noninsulin-Dependent HNF1A NM_000545.6(HNF1A):c.1522G>A (p.Glu508Lys) SNV Conflicting interpretations of pathogenicity 135665 rs483353044 12:121437091-121437091 12:120999288-120999288 DBT026 Diabetes Mellitus, Noninsulin-Dependent ABCC8 NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) SNV Conflicting interpretations of pathogenicity 210067 rs67254669 11:17470143-17470143 11:17448596-17448596 DBT026 Diabetes Mellitus, Noninsulin-Dependent ABCC8 NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) SNV Conflicting interpretations of pathogenicity 210066 rs145136257 11:17474779-17474779 11:17453232-17453232 DBT026 Diabetes Mellitus, Noninsulin-Dependent ABCC8 NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) SNV Conflicting interpretations of pathogenicity 225291 rs185040406 11:17482222-17482222 11:17460675-17460675 DBT026 Diabetes Mellitus, Noninsulin-Dependent WFS1 NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser) SNV Conflicting interpretations of pathogenicity 215389 rs113446173 4:6302893-6302893 4:6301166-6301166 DBT026 Diabetes Mellitus, Noninsulin-Dependent SLC2A2 NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val) SNV Conflicting interpretations of pathogenicity 344159 rs5397 3:170715835-170715835 3:170998046-170998046 DBT026 Diabetes Mellitus, Noninsulin-Dependent WFS1 NM_006005.3(WFS1):c.1079G>A (p.Cys360Tyr) SNV Uncertain significance 374398 rs147157374 4:6302601-6302601 4:6300874-6300874 DBT026 Diabetes Mellitus, Noninsulin-Dependent WFS1 NM_006005.3(WFS1):c.1538A>C (p.Tyr513Ser) SNV Uncertain significance 215412 rs544933961 4:6303060-6303060 4:6301333-6301333 DBT026 Diabetes Mellitus, Noninsulin-Dependent WFS1 NM_006005.3(WFS1):c.1633G>A (p.Val545Met) SNV Uncertain significance 215391 rs201993978 4:6303155-6303155 4:6301428-6301428 DBT026 Diabetes Mellitus, Noninsulin-Dependent IRS1 NM_005544.2(IRS1):c.3235C>T (p.Pro1079Ser) SNV Uncertain significance 225392 rs148962208 2:227660220-227660220 2:226795504-226795504 DBT026 Diabetes Mellitus, Noninsulin-Dependent WFS1 NM_006005.3(WFS1):c.535G>A (p.Ala179Thr) SNV Uncertain significance 229647 rs776685250 4:6292998-6292998 4:6291271-6291271 DBT026 Diabetes Mellitus, Noninsulin-Dependent WFS1 NM_006005.3(WFS1):c.728C>T (p.Ala243Val) SNV Uncertain significance 215381 rs147147660 4:6296783-6296783 4:6295056-6295056 DBT026 Diabetes Mellitus, Noninsulin-Dependent WFS1 NM_006005.3(WFS1):c.817G>A (p.Glu273Lys) SNV Uncertain significance 215382 rs142428158 4:6296872-6296872 4:6295145-6295145 DBT026 Diabetes Mellitus, Noninsulin-Dependent WFS1 NM_006005.3(WFS1):c.1167T>G (p.Asp389Glu) SNV Uncertain significance 215385 rs201282601 4:6302689-6302689 4:6300962-6300962 DBT026 Diabetes Mellitus, Noninsulin-Dependent WFS1 NM_006005.3(WFS1):c.2029G>A (p.Ala677Thr) SNV Uncertain significance 198834 rs757027394 4:6303551-6303551 4:6301824-6301824 DBT026 Diabetes Mellitus, Noninsulin-Dependent HNF4A NM_175914.4(HNF4A):c.1321A>G (p.Ile441Val) SNV Uncertain significance 36345 rs147638455 20:43058267-43058267 20:44429627-44429627 DBT026 Diabetes Mellitus, Noninsulin-Dependent WFS1 NM_006005.3(WFS1):c.716A>G (p.Lys239Arg) SNV Uncertain significance 166574 rs727503747 4:6296771-6296771 4:6295044-6295044 DBT026 Diabetes Mellitus, Noninsulin-Dependent WFS1 NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys) SNV Uncertain significance 178597 rs201064551 4:6303479-6303479 4:6301752-6301752 DBT026 Diabetes Mellitus, Noninsulin-Dependent WFS1 NM_006005.3(WFS1):c.1396G>A (p.Gly466Ser) SNV Uncertain significance 166589 rs727503750 4:6302918-6302918 4:6301191-6301191 DBT026 Diabetes Mellitus, Noninsulin-Dependent KCNJ11 NM_000525.3(KCNJ11):c.973C>A (p.Arg325Ser) SNV Uncertain significance 435560 rs550315112 11:17408666-17408666 11:17387119-17387119 DBT026 Diabetes Mellitus, Noninsulin-Dependent SLC2A2 NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln) SNV Uncertain significance 426982 rs145210664 3:170732471-170732471 3:171014682-171014682 DBT026 Diabetes Mellitus, Noninsulin-Dependent HNF1B NM_000458.4(HNF1B):c.*37G>A SNV Uncertain significance 438661 rs1555818071 17:36047338-36047338 17:37687335-37687335 DBT026 Diabetes Mellitus, Noninsulin-Dependent WFS1 NM_006005.3(WFS1):c.1724C>G (p.Ala575Gly) SNV Uncertain significance 440419 rs71524360 4:6303246-6303246 4:6301519-6301519 DBT026 Diabetes Mellitus, Noninsulin-Dependent KCNJ11 NM_000525.3(KCNJ11):c.1016T>G (p.Val339Gly) SNV Uncertain significance 550169 rs138125678 11:17408623-17408623 11:17387076-17387076 DBT026 Diabetes Mellitus, Noninsulin-Dependent GCK NM_000162.5(GCK):c.1310C>T (p.Thr437Ile) SNV Uncertain significance 585914 rs1185622190 7:44184823-44184823 7:44145224-44145224 DBT026 Diabetes Mellitus, Noninsulin-Dependent HNF4A NM_175914.4(HNF4A):c.53C>T (p.Thr18Met) SNV Uncertain significance 586012 rs199796094 20:43034701-43034701 20:44406061-44406061 DBT026 Diabetes Mellitus, Noninsulin-Dependent WFS1 NM_006005.3(WFS1):c.1124G>A (p.Arg375His) SNV Uncertain significance 504709 rs142671083 4:6302646-6302646 4:6300919-6300919 DBT026 Diabetes Mellitus, Noninsulin-Dependent HNF4A NM_175914.4(HNF4A):c.1138G>A (p.Val380Ile) SNV Uncertain significance 9213 rs137853337 20:43057049-43057049 20:44428409-44428409 DBT026 Diabetes Mellitus, Noninsulin-Dependent SLC2A4 NM_001042.3(SLC2A4):c.1147G>A (p.Val383Ile) SNV Uncertain significance 16089 rs121434581 17:7189048-7189048 17:7285729-7285729 DBT026 Diabetes Mellitus, Noninsulin-Dependent SLC2A2 NM_000340.2(SLC2A2):c.589G>A (p.Val197Ile) SNV Uncertain significance 16090 rs121909741 3:170724960-170724960 3:171007171-171007171 DBT026 Diabetes Mellitus, Noninsulin-Dependent CDKAL1 NM_017774.3(CDKAL1):c.371+11426A>C SNV Uncertain significance 986 rs10946398 6:20661034-20661034 6:20660803-20660803 DBT026 Diabetes Mellitus, Noninsulin-Dependent CDKAL1 NM_017774.3(CDKAL1):c.371+30101A>G SNV Uncertain significance 987 rs7756992 6:20679709-20679709 6:20679478-20679478 DBT026 Diabetes Mellitus, Noninsulin-Dependent AKT2 NM_001626.6(AKT2):c.1363C>T (p.Arg455Cys) SNV Uncertain significance 853867 19:40740955-40740955 19:40235048-40235048 DBT026 Diabetes Mellitus, Noninsulin-Dependent AKT2 NM_001626.6(AKT2):c.757C>T (p.Arg253Trp) SNV Uncertain significance 838472 19:40743950-40743950 19:40238043-40238043 DBT026 Diabetes Mellitus, Noninsulin-Dependent AKT2 NM_001626.6(AKT2):c.136G>A (p.Asp46Asn) SNV Uncertain significance 853964 19:40762872-40762872 19:40256965-40256965 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJ NM_005349.3(RBPJ):c.407G>A (p.Arg136Gln) SNV Uncertain significance 802061 4:26422219-26422219 4:26420597-26420597 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJ NM_005349.3(RBPJ):c.433A>G (p.Met145Val) SNV Uncertain significance 802062 4:26422245-26422245 4:26420623-26420623 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJ NM_005349.3(RBPJ):c.1103T>A (p.Val368Glu) SNV Uncertain significance 802063 4:26432060-26432060 4:26430438-26430438 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJ NM_005349.3(RBPJ):c.1105G>C (p.Ala369Pro) SNV Uncertain significance 802064 4:26432062-26432062 4:26430440-26430440 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJ NM_005349.3(RBPJ):c.1207del (p.Cys403fs) deletion Uncertain significance 802065 4:26432333-26432333 4:26430711-26430711 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJ NM_005349.3(RBPJ):c.1222A>G (p.Ile408Val) SNV Uncertain significance 802066 4:26432348-26432348 4:26430726-26430726 DBT026 Diabetes Mellitus, Noninsulin-Dependent AKT2 NM_001626.6(AKT2):c.1367-7C>T SNV Likely benign 707136 19:40739865-40739865 19:40233958-40233958 DBT026 Diabetes Mellitus, Noninsulin-Dependent AKT2 NM_001626.6(AKT2):c.699C>T (p.Asn233=) SNV Likely benign 772158 19:40744821-40744821 19:40238914-40238914 DBT026 Diabetes Mellitus, Noninsulin-Dependent AKT2 NM_001626.6(AKT2):c.212A>G (p.Asn71Ser) SNV Likely benign 783189 19:40761140-40761140 19:40255233-40255233 DBT026 Diabetes Mellitus, Noninsulin-Dependent AKT2 NM_001626.6(AKT2):c.711G>C (p.Leu237=) SNV Likely benign 715159 19:40743996-40743996 19:40238089-40238089 DBT026 Diabetes Mellitus, Noninsulin-Dependent IRS1 NM_005544.2(IRS1):c.2039_2041GCA[6] (p.Ser686del) short repeat Likely benign 522185 rs138975702 2:227661396-227661398 2:226796680-226796682 DBT026 Diabetes Mellitus, Noninsulin-Dependent AKT2 NM_001626.6(AKT2):c.282C>T (p.Asp94=) SNV Likely benign 466266 rs139125633 19:40761070-40761070 19:40255163-40255163 DBT026 Diabetes Mellitus, Noninsulin-Dependent AKT2 NM_001626.6(AKT2):c.442-8C>T SNV Likely benign 434117 rs201884933 19:40747984-40747984 19:40242077-40242077 DBT026 Diabetes Mellitus, Noninsulin-Dependent IRS1 NM_005544.2(IRS1):c.2452G>C (p.Gly818Arg) SNV Likely benign 402985 rs41265094 2:227661003-227661003 2:226796287-226796287 DBT026 Diabetes Mellitus, Noninsulin-Dependent AKT2 NM_001626.6(AKT2):c.960+3G>A SNV Likely benign 434115 rs56165898 19:40742161-40742161 19:40236254-40236254 DBT026 Diabetes Mellitus, Noninsulin-Dependent AKT2 NM_001626.6(AKT2):c.945G>A (p.Glu315=) SNV Benign/Likely benign 434116 rs150000674 19:40742179-40742179 19:40236272-40236272 DBT026 Diabetes Mellitus, Noninsulin-Dependent AKT2 NM_001626.6(AKT2):c.573+9C>T SNV Benign/Likely benign 210115 rs3730258 19:40747836-40747836 19:40241929-40241929 DBT026 Diabetes Mellitus, Noninsulin-Dependent AKT2 NM_001626.6(AKT2):c.93C>T (p.Ser31=) SNV Benign 434118 rs35588791 19:40762915-40762915 19:40257008-40257008 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJ NC_000004.11:g.26223789C>T SNV Benign 444123 rs114530054 4:26223789-26223789 4:26222167-26222167 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJ NM_005349.3(RBPJ):c.-1504G>A SNV Benign 444122 rs186895314 4:26320064-26320064 4:26318442-26318442 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJ NM_005349.3(RBPJ):c.59+102G>A SNV Benign 444137 rs185848565 4:26322539-26322539 4:26320917-26320917 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJ NM_005349.3(RBPJ):c.59+10955T>G SNV Benign 444130 rs78445835 4:26333392-26333392 4:26331770-26331770 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJ NM_005349.3(RBPJ):c.59+13806C>T SNV Benign 444124 rs13144326 4:26336243-26336243 4:26334621-26334621 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJ NM_005349.3(RBPJ):c.59+29926T>G SNV Benign 444136 rs6853254 4:26352363-26352363 4:26350741-26350741 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJ NM_005349.3(RBPJ):c.60-26407G>A SNV Benign 444129 rs73245775 4:26361568-26361568 4:26359946-26359946 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJ NM_005349.3(RBPJ):c.60-20856T>C SNV Benign 444131 rs78672655 4:26367119-26367119 4:26365497-26365497 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJ NM_005349.3(RBPJ):c.60-2640G>A SNV Benign 444128 rs7655165 4:26385335-26385335 4:26383713-26383713 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJ NM_005349.3(RBPJ):c.98+2331A>C SNV Benign 444121 rs186035024 4:26390344-26390344 4:26388722-26388722 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJ NM_005349.3(RBPJ):c.99-8189dup duplication Benign 444134 rs77056130 4:26399603-26399604 4:26397981-26397982 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJ NM_005349.3(RBPJ):c.99-5130C>T SNV Benign 444133 rs12650452 4:26402667-26402667 4:26401045-26401045 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJ NM_005349.3(RBPJ):c.195-2327G>C SNV Benign 444125 rs12639629 4:26414770-26414770 4:26413148-26413148 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJ NM_005349.3(RBPJ):c.360+406G>A SNV Benign 444132 rs79533922 4:26417668-26417668 4:26416046-26416046 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJ NC_000004.11:g.26446006G>A SNV Benign 444126 rs2788865 4:26446006-26446006 4:26444384-26444384 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJ NC_000004.11:g.26451697G>A SNV Benign 444135 rs13116206 4:26451697-26451697 4:26450075-26450075 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJ NC_000004.11:g.26455229G>C SNV Benign 444127 rs930109604 4:26455229-26455229 4:26453607-26453607 DBT026 Diabetes Mellitus, Noninsulin-Dependent PTF1A NC_000010.10:g.23452642A>G SNV Benign 444140 rs10741021 10:23452642-23452642 10:23163713-23163713 DBT026 Diabetes Mellitus, Noninsulin-Dependent PTF1A NC_000010.10:g.23456513A>C SNV Benign 444139 rs16923098 10:23456513-23456513 10:23167584-23167584 DBT026 Diabetes Mellitus, Noninsulin-Dependent PTF1A NC_000010.10:g.23466734G>A SNV Benign 444138 rs7916519 10:23466734-23466734 10:23177805-23177805 DBT026 Diabetes Mellitus, Noninsulin-Dependent PTF1A NC_000010.10:g.23476431G>A SNV Benign 444146 rs187391034 10:23476431-23476431 10:23187502-23187502 DBT026 Diabetes Mellitus, Noninsulin-Dependent PTF1A NC_000010.10:g.23478779T>G SNV Benign 444143 rs4748844 10:23478779-23478779 10:23189850-23189850 DBT026 Diabetes Mellitus, Noninsulin-Dependent PTF1A NM_001365862.2(C10orf67):c.1437+6169G>A SNV Benign 444147 rs1554804525 10:23522489-23522489 10:23233560-23233560 DBT026 Diabetes Mellitus, Noninsulin-Dependent PTF1A NM_001365862.2(C10orf67):c.1204-4652A>G SNV Benign 444145 rs7904665 10:23544272-23544272 10:23255343-23255343 DBT026 Diabetes Mellitus, Noninsulin-Dependent PTF1A NM_001365862.2(C10orf67):c.1203+6658G>T SNV Benign 444142 rs116846325 10:23548533-23548533 10:23259604-23259604 DBT026 Diabetes Mellitus, Noninsulin-Dependent PTF1A NM_001365862.2(C10orf67):c.913-1375T>G SNV Benign 444144 rs4454613 10:23572382-23572382 10:23283453-23283453 DBT026 Diabetes Mellitus, Noninsulin-Dependent PTF1A NM_001365862.2(C10orf67):c.854-537C>T SNV Benign 444141 rs7090683 10:23579424-23579424 10:23290495-23290495 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJL NC_000020.10:g.43785791A>G SNV Benign 444108 rs143311170 20:43785791-43785791 20:45157150-45157150 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJL NM_003064.4(SLPI):c.85+267C>T SNV Benign 444117 rs59339622 20:43882833-43882833 20:45254192-45254192 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJL NC_000020.10:g.43907877T>C SNV Benign 444119 rs79312216 20:43907877-43907877 20:45279237-45279237 DBT026 Diabetes Mellitus, Noninsulin-Dependent IRS1 NM_005544.2(IRS1):c.1534G>C (p.Ala512Pro) SNV Benign 522186 rs1801276 2:227661921-227661921 2:226797205-226797205 DBT026 Diabetes Mellitus, Noninsulin-Dependent AKT2 NM_001626.6(AKT2):c.666C>T (p.His222=) SNV Benign 707555 19:40744854-40744854 19:40238947-40238947 DBT026 Diabetes Mellitus, Noninsulin-Dependent AKT2 NM_001626.6(AKT2):c.1110G>T (p.Pro370=) SNV Benign 466265 rs41309435 19:40741862-40741862 19:40235955-40235955 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJL NM_003833.4(MATN4):c.643+703C>T SNV Benign 444118 rs961418965 20:43932165-43932165 20:45303525-45303525 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJL NM_014276.4(RBPJL):c.23-481C>G SNV Benign 444107 rs138228405 20:43936302-43936302 20:45307662-45307662 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJL NM_014276.4(RBPJL):c.132-389T>C SNV Benign 444114 rs2076027 20:43937818-43937818 20:45309178-45309178 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJL NM_014276.4(RBPJL):c.759T>C (p.Ala253=) SNV Benign 444110 rs2076026 20:43942676-43942676 20:45314036-45314036 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJL NM_014276.4(RBPJL):c.1333G>A (p.Asp445Asn) SNV Benign 444104 rs1555859311 20:43945378-43945378 20:45316738-45316738 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJL NC_000020.10:g.43948221A>C SNV Benign 444116 rs11698812 20:43948221-43948221 20:45319581-45319581 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJL NC_000020.10:g.43953076T>G SNV Benign 444120 rs720063 20:43953076-43953076 20:45324436-45324436 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJL NC_000020.10:g.43953320_43953321delAG deletion Benign 444112 rs33961254 20:43953320-43953321 20:45324680-45324681 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJL NM_002999.4(SDC4):c.446-1455C>T SNV Benign 444106 rs985586 20:43957510-43957510 20:45328870-45328870 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJL NM_002999.4(SDC4):c.445+251C>T SNV Benign 444111 rs2425696 20:43958755-43958755 20:45330115-45330115 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJL NM_002999.4(SDC4):c.199+134A>G SNV Benign 444113 rs2072792 20:43964288-43964288 20:45335648-45335648 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJL NM_002999.4(SDC4):c.61-965T>C SNV Benign 444109 rs147593522 20:43965525-43965525 20:45336885-45336885 DBT026 Diabetes Mellitus, Noninsulin-Dependent RBPJL NM_002999.4(SDC4):c.61-4447del deletion Benign 444115 rs148973596 20:43969007-43969007 20:45340367-45340367 DBT026 Diabetes Mellitus, Noninsulin-Dependent WFS1 NM_006005.3(WFS1):c.461-9A>G SNV Benign 4527 rs10010131 4:6292915-6292915 4:6291188-6291188 DBT026 Diabetes Mellitus, Noninsulin-Dependent WFS1 NM_006005.3(WFS1):c.713-1075C>G SNV Benign 4528 rs6446482 4:6295693-6295693 4:6293966-6293966 DBT026 Diabetes Mellitus, Noninsulin-Dependent GCGR NM_000160.5(GCGR):c.118G>A (p.Gly40Ser) SNV Benign 16159 rs1801483 17:79767715-79767715 17:81809839-81809839 DBT026 Diabetes Mellitus, Noninsulin-Dependent HNF1A NM_000545.6(HNF1A):c.79A>C (p.Ile27Leu) SNV Benign 14937 rs1169288 12:121416650-121416650 12:120978847-120978847 DBT026 Diabetes Mellitus, Noninsulin-Dependent ENPP1 NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) SNV Benign 13589 rs1044498 6:132172368-132172368 6:131851228-131851228 DBT026 Diabetes Mellitus, Noninsulin-Dependent KCNJ11 NM_000525.3(KCNJ11):c.47G>A (p.Arg16His) SNV not provided 441000 rs770609243 11:17409592-17409592 11:17388045-17388045 DBT026 Diabetes Mellitus, Noninsulin-Dependent TTN NM_001267550.2(TTN):c.86363G>A (p.Trp28788Ter) SNV Pathogenic 419359 rs1064793814 2:179424496-179424496 2:178559769-178559769 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.51654C>G (p.Tyr17218Ter) SNV Pathogenic 429894 rs1131691655 2:179474496-179474496 2:178609769-178609769 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter) SNV Pathogenic 488810 rs869178171 2:179428202-179428202 2:178563475-178563475 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.3474dup (p.Glu1159fs) duplication Pathogenic 517147 rs727503000 6:7579896-7579897 6:7579663-7579664 DLT002 Dilated Cardiomyopathy SCN5A NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter) SNV Pathogenic 517279 rs1417036453 3:38645490-38645490 3:38603999-38603999 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.1494G>A (p.Trp498Ter) SNV Pathogenic 520447 rs57730570 1:156106909-156106909 1:156137118-156137118 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.90706G>T (p.Glu30236Ter) SNV Pathogenic 520476 rs974510652 2:179416921-179416921 2:178552194-178552194 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.51581G>A (p.Trp17194Ter) SNV Pathogenic 520481 rs1553692290 2:179474569-179474569 2:178609842-178609842 DLT002 Dilated Cardiomyopathy MYH6 NM_002471.3(MYH6):c.735T>G (p.Phe245Leu) SNV Pathogenic 520533 rs1263987728 14:23873505-23873505 14:23404296-23404296 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.47961del (p.Gly15988fs) deletion Pathogenic 523430 rs1553707780 2:179481655-179481655 2:178616928-178616928 DLT002 Dilated Cardiomyopathy NKX2-5 NM_004387.4(NKX2-5):c.711C>A (p.Tyr237Ter) SNV Pathogenic 523473 rs1554093433 5:172659836-172659836 5:173232833-173232833 DLT002 Dilated Cardiomyopathy DMD NM_004006.2(DMD):c.4838G>A (p.Trp1613Ter) SNV Pathogenic 523468 rs1557315928 X:32398634-32398634 X:32380517-32380517 DLT002 Dilated Cardiomyopathy BAG3 NM_004281.3(BAG3):c.252_258dup (p.Pro87fs) duplication Pathogenic 560609 rs1564773559 10:121429432-121429433 10:119669920-119669921 DLT002 Dilated Cardiomyopathy CSRP3 NM_003476.5(CSRP3):c.420G>C (p.Trp140Cys) SNV Pathogenic 585278 rs1565050320 11:19206587-19206587 11:19185040-19185040 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.85295del (p.Leu28432fs) deletion Pathogenic 684873 2:179425564-179425564 2:178560837-178560837 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.72663del (p.Pro24223fs) deletion Pathogenic 684838 2:179438196-179438196 2:178573469-178573469 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.81341dup (p.Asn27115fs) duplication Pathogenic 689590 2:179429517-179429518 2:178564790-178564791 DLT002 Dilated Cardiomyopathy TTN-AS1 NM_001267550.2(TTN):c.81341dup (p.Asn27115fs) duplication Pathogenic 689590 2:179429517-179429518 2:178564790-178564791 DLT002 Dilated Cardiomyopathy RBM20 NM_001134363.3(RBM20):c.1901G>T (p.Arg634Leu) SNV Pathogenic 689585 10:112572056-112572056 10:110812298-110812298 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.91034G>A (p.Trp30345Ter) SNV Pathogenic 691676 2:179416593-179416593 2:178551866-178551866 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.64038T>G (p.Tyr21346Ter) SNV Pathogenic 691688 2:179451900-179451900 2:178587173-178587173 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.58838del (p.Tyr19613fs) deletion Pathogenic 691690 2:179458097-179458097 2:178593370-178593370 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.51436C>T (p.Gln17146Ter) SNV Pathogenic 691694 2:179474817-179474817 2:178610090-178610090 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.711_729delinsCC (p.Glu238fs) indel Pathogenic 691647 1:156104667-156104685 1:156134876-156134894 DLT002 Dilated Cardiomyopathy TNNI3 NM_000363.5(TNNI3):c.24+2T>A SNV Pathogenic 691809 19:55668662-55668662 19:55157294-55157294 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.5655+5G>C SNV Pathogenic 694311 14:23883211-23883211 14:23414002-23414002 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.54327del (p.Lys18110fs) deletion Pathogenic 694575 2:179469489-179469489 2:178604762-178604762 DLT002 Dilated Cardiomyopathy RBM20 NM_001134363.3(RBM20):c.150_153del (p.Pro52fs) deletion Pathogenic 694560 10:112404362-112404365 10:110644604-110644607 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.73828_73835del (p.Val24611fs) deletion Pathogenic 694571 2:179437024-179437031 2:178572297-178572304 DLT002 Dilated Cardiomyopathy RBM20 NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) SNV Pathogenic 268 rs267607003 10:112572068-112572068 10:110812310-110812310 DLT002 Dilated Cardiomyopathy MYBPC3 NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) SNV Pathogenic 8608 rs121909374 11:47364129-47364129 11:47342578-47342578 DLT002 Dilated Cardiomyopathy SCN5A NM_001160160.2(SCN5A):c.4714+66G>C SNV Pathogenic 9406 rs137854607 3:38595800-38595800 3:38554309-38554309 DLT002 Dilated Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) SNV Pathogenic 12414 rs74315379 1:201333464-201333464 1:201364336-201364336 DLT002 Dilated Cardiomyopathy PLN NM_002667.5(PLN):c.25C>T (p.Arg9Cys) SNV Pathogenic 13636 rs111033559 6:118880109-118880109 6:118558946-118558946 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.1594T>C (p.Ser532Pro) SNV Pathogenic 14108 rs121913642 14:23897088-23897088 14:23427879-23427879 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.16C>T (p.Gln6Ter) SNV Pathogenic 14477 rs61046466 1:156084725-156084725 1:156114934-156114934 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.585C>G (p.Asn195Lys) SNV Pathogenic 14483 rs28933091 1:156104265-156104265 1:156134474-156134474 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.608A>G (p.Glu203Gly) SNV Pathogenic 14484 rs28933092 1:156104288-156104288 1:156134497-156134497 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.1824C>T (p.Gly608=) SNV Pathogenic 14500 rs58596362 1:156108404-156108404 1:156138613-156138613 DLT002 Dilated Cardiomyopathy TPM1 NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn) SNV Pathogenic 31884 rs199476317 15:63354462-63354462 15:63062263-63062263 DLT002 Dilated Cardiomyopathy SCN5A NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) SNV Pathogenic 39444 rs45546039 3:38655272-38655272 3:38613781-38613781 DLT002 Dilated Cardiomyopathy TAZ NM_000116.5(TAZ):c.718G>C (p.Gly240Arg) SNV Pathogenic 42266 rs387907218 X:153649015-153649015 X:154420676-154420676 DLT002 Dilated Cardiomyopathy MYBPC3 NM_000256.3(MYBPC3):c.2096del (p.Pro699fs) deletion Pathogenic 42596 rs397515947 11:47360927-47360927 11:47339376-47339376 DLT002 Dilated Cardiomyopathy MYBPC3 NM_000256.3(MYBPC3):c.551dup (p.Lys185fs) duplication Pathogenic 42771 rs397516059 11:47371427-47371428 11:47349876-47349877 DLT002 Dilated Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln) SNV Pathogenic 43637 rs397516464 1:201333493-201333493 1:201364365-201364365 DLT002 Dilated Cardiomyopathy DES NM_001927.4(DES):c.38C>T (p.Ser13Phe) SNV Pathogenic 44260 rs62636495 2:220283222-220283222 2:219418500-219418500 DLT002 Dilated Cardiomyopathy PLN NM_002667.5(PLN):c.37_39AGA[1] (p.Arg14del) short repeat Pathogenic 44580 rs397516784 6:118880120-118880122 6:118558957-118558959 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.1146del (p.Phe382fs) deletion Pathogenic 44852 rs397516913 6:7568014-7568014 6:7567781-7567781 DLT002 Dilated Cardiomyopathy LMNA NM_005572.3(LMNA):c.1526dupC (p.Thr510Tyrfs) duplication Pathogenic 48041 rs58013325 1:156106935-156106936 1:156137144-156137145 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.348dup (p.Lys117fs) duplication Pathogenic 48061 rs267607646 1:156085056-156085057 1:156115265-156115266 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) SNV Pathogenic 48074 rs60682848 1:156104629-156104629 1:156134838-156134838 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.700C>T (p.Gln234Ter) SNV Pathogenic 48075 rs267607573 1:156104656-156104656 1:156134865-156134865 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.958del (p.Leu320fs) deletion Pathogenic 48095 rs397517915 1:156105713-156105713 1:156135922-156135922 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) SNV Pathogenic 48096 rs267607554 1:156105716-156105716 1:156135925-156135925 DLT002 Dilated Cardiomyopathy DES NM_001927.4(DES):c.735+3A>G SNV Pathogenic 66419 rs267607483 2:220285071-220285071 2:219420349-219420349 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.244G>A (p.Glu82Lys) SNV Pathogenic 66882 rs59270054 1:156084953-156084953 1:156115162-156115162 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) SNV Pathogenic 132925 rs606231324 14:23897714-23897714 14:23428505-23428505 DLT002 Dilated Cardiomyopathy RAF1 NM_001354689.3(RAF1):c.1982C>T (p.Thr661Met) SNV Pathogenic 142298 rs587777587 3:12626038-12626038 3:12584539-12584539 DLT002 Dilated Cardiomyopathy DSP NM_004415.3(DSP):c.2131_2132delAG (p.Ser711Cysfs) deletion Pathogenic 143947 rs587782927 6:7574319-7574320 6:7574084-7574085 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.1086del (p.Leu363fs) deletion Pathogenic 155806 rs58389804 1:156105840-156105840 1:156136049-156136049 DLT002 Dilated Cardiomyopathy LMNA NM_170707.3(LMNA):c.(?_1)_(356_?)del (p.(?)) deletion Pathogenic 180106 1:156084710-156085065 1:156114919-156115274 DLT002 Dilated Cardiomyopathy ACTN2 NM_001278344.1(ACTN2):c.-467G>A SNV Pathogenic 162727 rs727502886 1:236882307-236882307 1:236719007-236719007 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.49648+2del deletion Pathogenic 179411 rs727504851 2:179477886-179477886 2:178613159-178613159 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter) SNV Pathogenic 180010 rs727505284 2:179430143-179430143 2:178565416-178565416 DLT002 Dilated Cardiomyopathy SCN5A NM_000335.4(SCN5A):c.3992del (p.Pro1331fs) deletion Pathogenic 179338 rs727504801 3:38601888-38601888 3:38560397-38560397 DLT002 Dilated Cardiomyopathy LAMP2 NM_013995.2(LAMP2):c.1020del (p.Gly341fs) deletion Pathogenic 178999 rs727504597 X:119575658-119575658 X:120441803-120441803 DLT002 Dilated Cardiomyopathy TAZ NM_000116.5(TAZ):c.708_709TG[1] (p.Val237fs) short repeat Pathogenic 177908 rs727504394 X:153649005-153649006 X:154420666-154420667 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.710T>C (p.Phe237Ser) SNV Pathogenic 180404 rs730880132 1:156104666-156104666 1:156134875-156134875 DLT002 Dilated Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp) SNV Pathogenic 228409 rs727503512 1:201332477-201332477 1:201363349-201363349 DLT002 Dilated Cardiomyopathy BAG3 NM_004281.4(BAG3):c.925C>T (p.Arg309Ter) SNV Pathogenic 228322 rs869248137 10:121435991-121435991 10:119676479-119676479 DLT002 Dilated Cardiomyopathy MYBPC3 NM_000256.3(MYBPC3):c.2504del (p.Arg835fs) deletion Pathogenic 228369 rs876657704 11:47359040-47359040 11:47337489-47337489 DLT002 Dilated Cardiomyopathy BAG3 NM_004281.4(BAG3):c.730C>T (p.Gln244Ter) SNV Pathogenic/Likely pathogenic 228246 rs876657634 10:121431989-121431989 10:119672477-119672477 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.356+1G>C SNV Pathogenic/Likely pathogenic 228271 rs794728589 1:156085066-156085066 1:156115275-156115275 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.86437G>T (p.Glu28813Ter) SNV Pathogenic/Likely pathogenic 228307 rs868494032 2:179424422-179424422 2:178559695-178559695 DLT002 Dilated Cardiomyopathy TTN NM_001256850.1(TTN):c.44423-1G>A SNV Pathogenic/Likely pathogenic 223309 rs869312070 2:179478665-179478665 2:178613938-178613938 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) SNV Pathogenic/Likely pathogenic 223326 rs72648250 2:179413187-179413187 2:178548460-178548460 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter) SNV Pathogenic/Likely pathogenic 223295 rs770038577 2:179425769-179425769 2:178561042-178561042 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.78991C>T (p.Arg26331Ter) SNV Pathogenic/Likely pathogenic 223385 rs779996703 2:179431868-179431868 2:178567141-178567141 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.83515C>T (p.Arg27839Ter) SNV Pathogenic/Likely pathogenic 223386 rs869312118 2:179427344-179427344 2:178562617-178562617 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp) SNV Pathogenic/Likely pathogenic 164284 rs45544633 14:23886383-23886383 14:23417174-23417174 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) SNV Pathogenic/Likely pathogenic 180573 rs574660186 2:179444429-179444429 2:178579702-178579702 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.3630T>A (p.Tyr1210Ter) SNV Pathogenic/Likely pathogenic 163265 rs727503001 6:7580053-7580053 6:7579820-7579820 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter) SNV Pathogenic/Likely pathogenic 165985 rs727503607 2:179470369-179470369 2:178605642-178605642 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.51739+1G>C SNV Pathogenic/Likely pathogenic 179336 rs727504799 2:179474410-179474410 2:178609683-178609683 DLT002 Dilated Cardiomyopathy DES NM_001927.4(DES):c.1285C>T (p.Arg429Ter) SNV Pathogenic/Likely pathogenic 177872 rs150974575 2:220288539-220288539 2:219423817-219423817 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.939+1G>A SNV Pathogenic/Likely pathogenic 178282 rs727504443 6:7565754-7565754 6:7565521-7565521 DLT002 Dilated Cardiomyopathy MYBPC3 NM_000256.3(MYBPC3):c.1351+1G>A SNV Pathogenic/Likely pathogenic 164119 rs727503204 11:47364571-47364571 11:47343020-47343020 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.107377+1G>A SNV Pathogenic/Likely pathogenic 196723 rs112188483 2:179393000-179393000 2:178528273-178528273 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.859del (p.Ala287fs) deletion Pathogenic/Likely pathogenic 200959 rs59564495 1:156105022-156105022 1:156135231-156135231 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.273del (p.Glu92fs) deletion Pathogenic/Likely pathogenic 199915 rs794728136 6:7556053-7556053 6:7555820-7555820 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs) duplication Pathogenic/Likely pathogenic 199923 rs1554108152 6:7580155-7580156 6:7579922-7579923 DLT002 Dilated Cardiomyopathy DSG2 NM_001943.5(DSG2):c.3055_3056AG[2] (p.Glu1020fs) short repeat Pathogenic/Likely pathogenic 199827 rs397516706 18:29126404-29126407 18:31546441-31546444 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.98989+1G>A SNV Pathogenic/Likely pathogenic 202428 rs112240298 2:179403672-179403672 2:178538945-178538945 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter) SNV Pathogenic/Likely pathogenic 202405 rs794729285 2:179436521-179436521 2:178571794-178571794 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.71980_71986delinsTA (p.Ala23994_Glu23996delinsTer) indel Pathogenic/Likely pathogenic 202465 rs794729338 2:179438873-179438879 2:178574146-178574152 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.63025C>T (p.Arg21009Ter) SNV Pathogenic/Likely pathogenic 202518 rs368452607 2:179453427-179453427 2:178588700-178588700 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.53393del (p.Gly17798fs) deletion Pathogenic/Likely pathogenic 202451 rs794729324 2:179471936-179471936 2:178607209-178607209 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.50170C>T (p.Arg16724Ter) SNV Pathogenic/Likely pathogenic 202378 rs794729265 2:179477082-179477082 2:178612355-178612355 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.76373del (p.Pro25458fs) deletion Pathogenic/Likely pathogenic 222873 rs869025553 2:179434486-179434486 2:178569759-178569759 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer) deletion Pathogenic/Likely pathogenic 179417 rs727504856 2:179424057-179424060 2:178559330-178559333 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.81878_81879del (p.Phe27293fs) deletion Pathogenic/Likely pathogenic 179139 rs727504660 2:179428980-179428981 2:178564253-178564254 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter) SNV Pathogenic/Likely pathogenic 179759 rs557312035 2:179429538-179429538 2:178564811-178564811 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.72669del (p.Asp24224fs) deletion Pathogenic/Likely pathogenic 178908 rs727504531 2:179438190-179438190 2:178573463-178573463 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.71321G>A (p.Trp23774Ter) SNV Pathogenic/Likely pathogenic 165855 rs727503567 2:179439538-179439538 2:178574811-178574811 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter) SNV Pathogenic/Likely pathogenic 165869 rs371678190 2:179442793-179442793 2:178578066-178578066 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter) SNV Pathogenic/Likely pathogenic 165916 rs727503586 2:179454235-179454235 2:178589508-178589508 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.97492+1G>C SNV Pathogenic/Likely pathogenic 180058 rs727505319 2:179406990-179406990 2:178542263-178542263 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs) indel Pathogenic/Likely pathogenic 165720 rs727503547 2:179412173-179412173 2:178547446-178547446 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.91839dup (p.Val30614fs) duplication Pathogenic/Likely pathogenic 179692 rs730880365 2:179414725-179414726 2:178549998-178549999 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.1609-1G>A SNV Pathogenic/Likely pathogenic 179809 rs111569862 1:156107444-156107444 1:156137653-156137653 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.98994del (p.Lys32998fs) deletion Pathogenic/Likely pathogenic 178913 rs727504535 2:179403562-179403562 2:178538835-178538835 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter) SNV Pathogenic/Likely pathogenic 66800 rs267607618 1:156106141-156106141 1:156136350-156136350 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.1609-3C>G SNV Pathogenic/Likely pathogenic 66856 rs267607581 1:156107442-156107442 1:156137651-156137651 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.1622G>A (p.Arg541His) SNV Pathogenic/Likely pathogenic 66860 rs61444459 1:156107458-156107458 1:156137667-156137667 DLT002 Dilated Cardiomyopathy SCN5A NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp) SNV Pathogenic/Likely pathogenic 67731 rs199473161 3:38627529-38627529 3:38586038-38586038 DLT002 Dilated Cardiomyopathy DES NM_001927.4(DES):c.1360C>T (p.Arg454Trp) SNV Pathogenic/Likely pathogenic 66402 rs267607490 2:220290456-220290456 2:219425734-219425734 DLT002 Dilated Cardiomyopathy DES NM_001927.4(DES):c.35C>T (p.Ser12Phe) SNV Pathogenic/Likely pathogenic 66412 rs267607495 2:220283219-220283219 2:219418497-219418497 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) SNV Pathogenic/Likely pathogenic 48093 rs56816490 1:156105704-156105704 1:156135913-156135913 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) SNV Pathogenic/Likely pathogenic 48070 rs61195471 1:156104287-156104287 1:156134496-156134496 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.778_780AAG[1] (p.Lys261del) short repeat Pathogenic/Likely pathogenic 48080 rs58978449 1:156104734-156104736 1:156134943-156134945 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.799T>C (p.Tyr267His) SNV Pathogenic/Likely pathogenic 48084 rs267607593 1:156104755-156104755 1:156134964-156134964 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) SNV Pathogenic/Likely pathogenic 48046 rs56984562 1:156107457-156107457 1:156137666-156137666 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.2848dup (p.Ile950fs) duplication Pathogenic/Likely pathogenic 44885 rs397516927 6:7577240-7577241 6:7577007-7577008 DLT002 Dilated Cardiomyopathy BAG3 NM_004281.4(BAG3):c.1363G>A (p.Glu455Lys) SNV Pathogenic/Likely pathogenic 44778 rs397516881 10:121436429-121436429 10:119676917-119676917 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.478C>T (p.Arg160Ter) SNV Pathogenic/Likely pathogenic 44922 rs397516943 6:7559514-7559514 6:7559281-7559281 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.699G>A (p.Trp233Ter) SNV Pathogenic/Likely pathogenic 44946 rs397516955 6:7562986-7562986 6:7562753-7562753 DLT002 Dilated Cardiomyopathy RBM20 NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys) SNV Pathogenic/Likely pathogenic 43998 rs397516607 10:112581114-112581114 10:110821356-110821356 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) SNV Pathogenic/Likely pathogenic 47121 rs72646831 2:179462478-179462478 2:178597751-178597751 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.59205del (p.Glu19735fs) deletion Pathogenic/Likely pathogenic 47147 rs397517643 2:179457641-179457641 2:178592914-178592914 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) SNV Pathogenic/Likely pathogenic 47175 rs72646846 2:179454576-179454576 2:178589849-178589849 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) SNV Pathogenic/Likely pathogenic 47301 rs397517689 2:179439257-179439257 2:178574530-178574530 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.86821+2T>A SNV Pathogenic/Likely pathogenic 47458 rs397517735 2:179424036-179424036 2:178559309-178559309 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.93897del (p.Phe31299fs) deletion Pathogenic/Likely pathogenic 47535 rs397517758 2:179412456-179412456 2:178547729-178547729 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) deletion Pathogenic/Likely pathogenic 47599 rs397517776 2:179404492-179404493 2:178539765-178539766 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.1112_1115dup (p.Glu372fs) duplication Pathogenic/Likely pathogenic 48030 rs397517888 1:156105865-156105866 1:156136074-156136075 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) SNV Pathogenic/Likely pathogenic 48031 rs397517889 1:156105884-156105884 1:156136093-156136093 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.1146C>T (p.Gly382=) SNV Pathogenic/Likely pathogenic 48032 rs57508089 1:156105901-156105901 1:156136110-156136110 DLT002 Dilated Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) SNV Pathogenic/Likely pathogenic 43649 rs397516471 1:201332476-201332476 1:201363348-201363348 DLT002 Dilated Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.650_652AGA[3] (p.Lys220del) short repeat Pathogenic/Likely pathogenic 43659 rs45578238 1:201331099-201331101 1:201361971-201361973 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.602T>C (p.Ile201Thr) SNV Pathogenic/Likely pathogenic 43093 rs397516258 14:23901007-23901007 14:23431798-23431798 DLT002 Dilated Cardiomyopathy TNNI3 NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys) SNV Pathogenic/Likely pathogenic 43392 rs397516355 19:55665403-55665403 19:55154035-55154035 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) SNV Pathogenic/Likely pathogenic 42901 rs3218716 14:23894525-23894525 14:23425316-23425316 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.2711G>A (p.Arg904His) SNV Pathogenic/Likely pathogenic 42926 rs397516165 14:23893327-23893327 14:23424118-23424118 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) SNV Pathogenic/Likely pathogenic 36473 rs386134243 1:156105758-156105758 1:156135967-156135967 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.1412G>A (p.Arg471His) SNV Pathogenic/Likely pathogenic 36476 rs267607578 1:156106743-156106743 1:156136952-156136952 DLT002 Dilated Cardiomyopathy TPM1 NM_001018005.2(TPM1):c.479G>A (p.Arg160His) SNV Pathogenic/Likely pathogenic 31899 rs199476311 15:63351866-63351866 15:63059667-63059667 DLT002 Dilated Cardiomyopathy BAG3 NM_004281.4(BAG3):c.367C>T (p.Arg123Ter) SNV Pathogenic/Likely pathogenic 30397 rs387906875 10:121429549-121429549 10:119670037-119670037 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) SNV Pathogenic/Likely pathogenic 14504 rs28933093 1:156100532-156100532 1:156130741-156130741 DLT002 Dilated Cardiomyopathy PLN NM_002667.5(PLN):c.116T>G (p.Leu39Ter) SNV Pathogenic/Likely pathogenic 13637 rs111033560 6:118880200-118880200 6:118559037-118559037 DLT002 Dilated Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp) SNV Pathogenic/Likely pathogenic 12415 rs74315380 1:201333494-201333494 1:201364366-201364366 DLT002 Dilated Cardiomyopathy RBM20 NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser) SNV Pathogenic/Likely pathogenic 270 rs267607002 10:112572061-112572061 10:110812303-110812303 DLT002 Dilated Cardiomyopathy RBM20 NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) SNV Pathogenic/Likely pathogenic 271 rs267607004 10:112572062-112572062 10:110812304-110812304 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.73568del (p.Pro24523fs) deletion Pathogenic/Likely pathogenic 568091 rs1559415567 2:179437291-179437291 2:178572564-178572564 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.523C>T (p.Gln175Ter) SNV Pathogenic/Likely pathogenic 652401 6:7559559-7559559 6:7559326-7559326 DLT002 Dilated Cardiomyopathy BAG3 NM_004281.4(BAG3):c.77G>A (p.Trp26Ter) SNV Pathogenic/Likely pathogenic 505229 rs1554875409 10:121411264-121411264 10:119651752-119651752 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter) SNV Pathogenic/Likely pathogenic 488983 rs1554108431 6:7581422-7581422 6:7581189-7581189 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs) deletion Pathogenic/Likely pathogenic 464963 rs1554108287 6:7580728-7580732 6:7580495-7580499 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter) SNV Pathogenic/Likely pathogenic 464961 rs1554108012 6:7579556-7579556 6:7579323-7579323 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.13058del (p.Pro4353fs) deletion Likely pathogenic 444542 rs1408345511 2:179604902-179604902 2:178740175-178740175 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter) SNV Likely pathogenic 446426 rs1553603152 2:179435313-179435313 2:178570586-178570586 DLT002 Dilated Cardiomyopathy BAG3 NM_004281.3(BAG3):c.836C>A (p.Ser279Ter) SNV Likely pathogenic 427243 rs751261054 10:121432095-121432095 10:119672583-119672583 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.42968dup (p.Pro14324fs) duplication Likely pathogenic 505124 rs1553741321 2:179498031-179498032 2:178633304-178633305 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.107198_107223+4del deletion Likely pathogenic 505097 rs1553479603 2:179393251-179393280 2:178528524-178528553 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.73387del (p.Ala24463fs) deletion Likely pathogenic 517403 rs1553607425 2:179437472-179437472 2:178572745-178572745 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.59693G>A (p.Trp19898Ter) SNV Likely pathogenic 504986 rs974671846 2:179456938-179456938 2:178592211-178592211 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.51870del (p.Glu17291fs) deletion Likely pathogenic 506137 rs1553691320 2:179474167-179474167 2:178609440-178609440 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.81521del (p.Pro27174fs) deletion Likely pathogenic 506135 rs1553577362 2:179429338-179429338 2:178564611-178564611 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.75443del (p.Gly25148fs) deletion Likely pathogenic 504935 rs1553603456 2:179435416-179435416 2:178570689-178570689 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.1922G>C (p.Gly641Ala) SNV Likely pathogenic 505801 rs1555338080 14:23896483-23896483 14:23427274-23427274 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.226C>T (p.Gln76Ter) SNV Likely pathogenic 505712 rs1554105614 6:7556006-7556006 6:7555773-7555773 DLT002 Dilated Cardiomyopathy CSRP3 NM_003476.5(CSRP3):c.354G>A (p.Glu118=) SNV Likely pathogenic 585277 rs876657767 11:19207823-19207823 11:19186276-19186276 DLT002 Dilated Cardiomyopathy CSRP3 NM_003476.5(CSRP3):c.96G>A (p.Lys32=) SNV Likely pathogenic 585276 rs1565053085 11:19213900-19213900 11:19192353-19192353 DLT002 Dilated Cardiomyopathy CSRP3 NM_003476.5(CSRP3):c.46A>T (p.Thr16Ser) SNV Likely pathogenic 585275 rs1565053147 11:19213950-19213950 11:19192403-19192403 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.541G>A (p.Gly181Arg) SNV Likely pathogenic 619082 rs760187215 14:23901068-23901068 14:23431859-23431859 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.555_556del (p.Asp185fs) deletion Likely pathogenic 637016 1:156104235-156104236 1:156134444-156134445 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.87705C>G (p.Tyr29235Ter) SNV Likely pathogenic 647447 2:179422376-179422376 2:178557649-178557649 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.64318A>T (p.Arg21440Ter) SNV Likely pathogenic 653706 2:179451310-179451310 2:178586583-178586583 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.7570_7573del (p.Thr2524fs) deletion Likely pathogenic 560379 rs1561703922 6:7585063-7585066 6:7584830-7584833 DLT002 Dilated Cardiomyopathy MYZAP NM_001018100.5(MYZAP):c.236C>A (p.Ser79Ter) SNV Likely pathogenic 523392 rs992189342 15:57910304-57910304 15:57618106-57618106 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.296G>C (p.Arg99Pro) SNV Likely pathogenic 684819 1:156085005-156085005 1:156115214-156115214 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.589_593delinsACTTGAAG (p.Leu197_Gln198delinsThrTer) indel Likely pathogenic 667008 1:156104269-156104273 1:156134478-156134482 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.104947C>T (p.Gln34983Ter) SNV Likely pathogenic 667024 2:179396395-179396395 2:178531668-178531668 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter) SNV Likely pathogenic 667023 2:179428334-179428334 2:178563607-178563607 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.80950G>T (p.Glu26984Ter) SNV Likely pathogenic 667017 2:179429909-179429909 2:178565182-178565182 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.3434del (p.Ala1145fs) deletion Likely pathogenic 667405 6:7579857-7579857 6:7579624-7579624 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.65655del (p.Thr21886fs) deletion Likely pathogenic 684807 2:179447875-179447875 2:178583148-178583148 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.12521_12522CA[1] (p.Gln4175fs) short repeat Likely pathogenic 684858 2:179605436-179605437 2:178740709-178740710 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.12268C>T (p.Gln4090Ter) SNV Likely pathogenic 684797 2:179605692-179605692 2:178740965-178740965 DLT002 Dilated Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.385G>C (p.Glu129Gln) SNV Likely pathogenic 684831 1:201334345-201334345 1:201365217-201365217 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.3466C>T (p.Gln1156Ter) SNV Likely pathogenic 684828 6:7579889-7579889 6:7579656-7579656 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.71083G>T (p.Glu23695Ter) SNV Likely pathogenic 689532 2:179439776-179439776 2:178575049-178575049 DLT002 Dilated Cardiomyopathy TTN-AS1 NM_001267550.2(TTN):c.71083G>T (p.Glu23695Ter) SNV Likely pathogenic 689532 2:179439776-179439776 2:178575049-178575049 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.5383A>T (p.Lys1795Ter) SNV Likely pathogenic 689533 2:179641208-179641208 2:178776481-178776481 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-27884del deletion Likely pathogenic 689490 rs768079285 10:21129753-21129753 10:20840824-20840824 DLT002 Dilated Cardiomyopathy BAG3 NM_004281.4(BAG3):c.969_972del (p.Lys324fs) deletion Likely pathogenic 684816 10:121436032-121436035 10:119676520-119676523 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.103374C>G (p.Tyr34458Ter) SNV Likely pathogenic 691673 2:179397968-179397968 2:178533241-178533241 DLT002 Dilated Cardiomyopathy FLNC NM_001458.4(FLNC):c.7385-1G>A SNV Likely pathogenic 684824 7:128496798-128496798 7:128856744-128856744 DLT002 Dilated Cardiomyopathy EMD NM_000117.3(EMD):c.265+2T>A SNV Likely pathogenic 684827 X:153608381-153608381 X:154380021-154380021 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.103857G>A (p.Trp34619Ter) SNV Likely pathogenic 684869 2:179397485-179397485 2:178532758-178532758 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.43604_43607dup (p.His14537fs) duplication Likely pathogenic 691698 2:179497013-179497014 2:178632286-178632287 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.13760del (p.Glu4587fs) deletion Likely pathogenic 691701 2:179604200-179604200 2:178739473-178739473 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.85891del (p.Ala28631fs) deletion Likely pathogenic 691839 2:179424968-179424968 2:178560241-178560241 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.70274G>C (p.Ser23425Thr) SNV Likely pathogenic 694572 2:179440585-179440585 2:178575858-178575858 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.63571C>A (p.Pro21191Thr) SNV Likely pathogenic 694573 2:179452465-179452465 2:178587738-178587738 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.55679G>A (p.Gly18560Asp) SNV Likely pathogenic 694574 2:179466045-179466045 2:178601318-178601318 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.2(ANKRD1):c.437C>T (p.Pro146Leu) SNV Likely pathogenic 694559 10:92678638-92678638 10:90918881-90918881 DLT002 Dilated Cardiomyopathy ABCC9 NM_005691.3(ABCC9):c.588C>G (p.Phe196Leu) SNV Likely pathogenic 694561 12:22068830-22068830 12:21915896-21915896 DLT002 Dilated Cardiomyopathy JUP NM_002230.4(JUP):c.947T>G (p.Val316Gly) SNV Likely pathogenic 694562 17:39921282-39921282 17:41765030-41765030 DLT002 Dilated Cardiomyopathy DSC2 NM_024422.6(DSC2):c.1035T>G (p.Ile345Met) SNV Likely pathogenic 694563 18:28662934-28662934 18:31082968-31082968 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.54316G>A (p.Asp18106Asn) SNV Likely pathogenic 694576 2:179469500-179469500 2:178604773-178604773 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.35338G>A (p.Glu11780Lys) SNV Likely pathogenic 694577 2:179534993-179534993 2:178670266-178670266 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.35225A>T (p.Lys11742Ile) SNV Likely pathogenic 694578 2:179536700-179536700 2:178671973-178671973 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.6915G>T (p.Glu2305Asp) SNV Likely pathogenic 694555 2:179639076-179639076 2:178774349-178774349 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.1013G>A (p.Gly338Asp) SNV Likely pathogenic 694556 2:179659881-179659881 2:178795154-178795154 DLT002 Dilated Cardiomyopathy SGCD NM_001128209.2(SGCD):c.535A>T (p.Thr179Ser) SNV Likely pathogenic 694557 5:156074509-156074509 5:156647499-156647499 DLT002 Dilated Cardiomyopathy LAMA2 NM_000426.3(LAMA2):c.4607C>T (p.Pro1536Leu) SNV Likely pathogenic 694558 6:129674392-129674392 6:129353247-129353247 DLT002 Dilated Cardiomyopathy NEXN NM_001172309.1(NEXN):c.983G>A (p.Arg328Gln) SNV Likely pathogenic 694567 1:78399088-78399088 1:77933403-77933403 DLT002 Dilated Cardiomyopathy NEXN NM_001172309.1(NEXN):c.1046A>G (p.Gln349Arg) SNV Likely pathogenic 694568 1:78399151-78399151 1:77933466-77933466 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.100603G>A (p.Glu33535Lys) SNV Likely pathogenic 694569 2:179400871-179400871 2:178536144-178536144 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.87157A>G (p.Thr29053Ala) SNV Likely pathogenic 694570 2:179422924-179422924 2:178558197-178558197 DLT002 Dilated Cardiomyopathy TCAP NM_003673.4(TCAP):c.157C>T (p.Gln53Ter) SNV Likely pathogenic 5525 rs104894655 17:37822015-37822015 17:39665762-39665762 DLT002 Dilated Cardiomyopathy RBM20 NM_001134363.3(RBM20):c.1904C>A (p.Ser635Tyr) SNV Likely pathogenic 870084 10:112572059-112572059 10:110812301-110812301 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.2926T>C (p.Trp976Arg) SNV Likely pathogenic 12651 rs267607155 2:179647707-179647707 2:178782980-178782980 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter) SNV Likely pathogenic 16845 rs121912997 6:7580222-7580222 6:7579989-7579989 DLT002 Dilated Cardiomyopathy TPM1 NM_001018005.2(TPM1):c.275T>C (p.Ile92Thr) SNV Likely pathogenic 31891 rs199476310 15:63349218-63349218 15:63057019-63057019 DLT002 Dilated Cardiomyopathy TAZ NM_000116.5(TAZ):c.823C>T (p.Gln275Ter) SNV Likely pathogenic 42269 rs397515750 X:153649287-153649287 X:154420948-154420948 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) SNV Likely pathogenic 42822 rs397516089 14:23899016-23899016 14:23429807-23429807 DLT002 Dilated Cardiomyopathy TNNI3 NM_000363.5(TNNI3):c.550G>A (p.Glu184Lys) SNV Likely pathogenic 43394 rs397516356 19:55663285-55663285 19:55151917-55151917 DLT002 Dilated Cardiomyopathy TPM1 NM_001018005.2(TPM1):c.163G>A (p.Asp55Asn) SNV Likely pathogenic 43404 rs397516363 15:63336274-63336274 15:63044075-63044075 DLT002 Dilated Cardiomyopathy TPM1 NM_001018005.2(TPM1):c.23T>G (p.Met8Arg) SNV Likely pathogenic 43406 rs397516364 15:63335051-63335051 15:63042852-63042852 DLT002 Dilated Cardiomyopathy TPM1 NM_001018005.2(TPM1):c.337C>G (p.Leu113Val) SNV Likely pathogenic 43414 rs397516369 15:63349280-63349280 15:63057081-63057081 DLT002 Dilated Cardiomyopathy TPM1 NM_001018005.2(TPM1):c.341A>G (p.Glu114Gly) SNV Likely pathogenic 43415 rs397516370 15:63349284-63349284 15:63057085-63057085 DLT002 Dilated Cardiomyopathy TPM1 NM_001018005.2(TPM1):c.423G>C (p.Met141Ile) SNV Likely pathogenic 43417 rs397516371 15:63351810-63351810 15:63059611-63059611 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.1791C>A (p.Asn597Lys) SNV Likely pathogenic 42866 rs397516122 14:23896891-23896891 14:23427682-23427682 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.1798C>T (p.Pro600Ser) SNV Likely pathogenic 42867 rs397516123 14:23896884-23896884 14:23427675-23427675 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.2348G>C (p.Arg783Pro) SNV Likely pathogenic 42895 rs397516142 14:23894566-23894566 14:23425357-23425357 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) SNV Likely pathogenic 43069 rs397516248 14:23884362-23884362 14:23415153-23415153 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.5717C>G (p.Ala1906Gly) SNV Likely pathogenic 43083 rs397516252 14:23883041-23883041 14:23413832-23413832 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.5726G>C (p.Arg1909Pro) SNV Likely pathogenic 43085 rs397516253 14:23883032-23883032 14:23413823-23413823 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) SNV Likely pathogenic 43088 rs397516254 14:23883018-23883018 14:23413809-23413809 DLT002 Dilated Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.382G>A (p.Glu128Lys) SNV Likely pathogenic 43634 rs397516461 1:201334348-201334348 1:201365220-201365220 DLT002 Dilated Cardiomyopathy TNNI3 NM_000363.5(TNNI3):c.464T>C (p.Met155Thr) SNV Likely pathogenic 43387 rs397516352 19:55665483-55665483 19:55154115-55154115 DLT002 Dilated Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.294T>G (p.Asp98Glu) SNV Likely pathogenic 43625 rs397516454 1:201334738-201334738 1:201365610-201365610 DLT002 Dilated Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.430C>G (p.Arg144Gly) SNV Likely pathogenic 43639 rs45525839 1:201333485-201333485 1:201364357-201364357 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.102949C>T (p.Gln34317Ter) SNV Likely pathogenic 47657 rs397517787 2:179398393-179398393 2:178533666-178533666 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.12208G>T (p.Glu4070Ter) SNV Likely pathogenic 47820 rs397517830 2:179605752-179605752 2:178741025-178741025 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.89197_89197+2del deletion Likely pathogenic 47486 rs397517741 2:179418639-179418641 2:178553912-178553914 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.73827del (p.Glu24609fs) deletion Likely pathogenic 47323 rs397517695 2:179437032-179437032 2:178572305-178572305 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.73845del (p.Glu24615fs) deletion Likely pathogenic 47324 rs397517696 2:179437014-179437014 2:178572287-178572287 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.6678_6681del (p.Lys2227fs) deletion Likely pathogenic 47327 rs397517698 2:179639757-179639760 2:178775030-178775033 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.66618C>A (p.Cys22206Ter) SNV Likely pathogenic 47237 rs397517664 2:179446377-179446377 2:178581650-178581650 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.69458_69461dup (p.Asn23154fs) duplication Likely pathogenic 47273 rs397517679 2:179441509-179441510 2:178576782-178576783 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.81532G>T (p.Glu27178Ter) SNV Likely pathogenic 47397 rs397517721 2:179429327-179429327 2:178564600-178564600 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.90587del (p.Lys30196fs) deletion Likely pathogenic 47498 rs397517749 2:179417040-179417040 2:178552313-178552313 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.90778dup (p.Tyr30260fs) duplication Likely pathogenic 47500 rs397517750 2:179416848-179416849 2:178552121-178552122 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.57995del (p.His19332fs) deletion Likely pathogenic 47131 rs397517633 2:179459226-179459226 2:178594499-178594499 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.50618G>A (p.Trp16873Ter) SNV Likely pathogenic 47047 rs397517601 2:179476338-179476338 2:178611611-178611611 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.54636T>G (p.Tyr18212Ter) SNV Likely pathogenic 47092 rs397517620 2:179468778-179468778 2:178604051-178604051 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.56647+1G>A SNV Likely pathogenic 47113 rs397517624 2:179463872-179463872 2:178599145-178599145 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.56732dup (p.Asp18911fs) duplication Likely pathogenic 47115 rs397517626 2:179463704-179463705 2:178598977-178598978 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.57215del (p.Gly19072fs) deletion Likely pathogenic 47119 rs397517628 2:179462682-179462682 2:178597955-178597955 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.46069_46070del (p.Met15357fs) deletion Likely pathogenic 46997 rs397517584 2:179485178-179485179 2:178620451-178620452 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.46773T>A (p.Tyr15591Ter) SNV Likely pathogenic 47003 rs397517586 2:179483504-179483504 2:178618777-178618777 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.46782C>A (p.Tyr15594Ter) SNV Likely pathogenic 47004 rs397517587 2:179483495-179483495 2:178618768-178618768 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.44364del (p.Tyr14789fs) deletion Likely pathogenic 46976 rs397517576 2:179494088-179494088 2:178629361-178629361 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.47506C>T (p.Gln15836Ter) SNV Likely pathogenic 47012 rs397517589 2:179482572-179482572 2:178617845-178617845 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter) SNV Likely pathogenic 46899 rs397517547 2:179647599-179647599 2:178782872-178782872 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.712dup (p.Ile238fs) duplication Likely pathogenic 44948 rs397516956 6:7562995-7562996 6:7562762-7562763 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.534_535insA (p.Gly179fs) insertion Likely pathogenic 44927 rs397516945 6:7559570-7559571 6:7559337-7559338 DLT002 Dilated Cardiomyopathy ACTC1 NM_005159.5(ACTC1):c.553C>T (p.Arg185Trp) SNV Likely pathogenic 45183 rs397517065 15:35084672-35084672 15:34792471-34792471 DLT002 Dilated Cardiomyopathy ACTC1 NM_005159.5(ACTC1):c.806T>C (p.Ile269Thr) SNV Likely pathogenic 45190 rs397517071 15:35084293-35084293 15:34792092-34792092 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.867C>A (p.Cys289Ter) SNV Likely pathogenic 44978 rs397516973 6:7565681-7565681 6:7565448-7565448 DLT002 Dilated Cardiomyopathy VCL NM_014000.3(VCL):c.659dup (p.Asn220fs) duplication Likely pathogenic 45618 rs397517245 10:75834531-75834532 10:74074773-74074774 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.1111_1125del (p.Met371_Ala375del) deletion Likely pathogenic 48029 rs397517887 1:156105866-156105880 1:156136074-156136088 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.154C>G (p.Leu52Val) SNV Likely pathogenic 48042 rs397517895 1:156084863-156084863 1:156115072-156115072 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.448A>C (p.Thr150Pro) SNV Likely pathogenic 48067 rs58917027 1:156100499-156100499 1:156130708-156130708 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.485T>C (p.Leu162Pro) SNV Likely pathogenic 48068 rs267607594 1:156100536-156100536 1:156130745-156130745 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.513+1G>C SNV Likely pathogenic 48069 rs397517904 1:156100565-156100565 1:156130774-156130774 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.863C>G (p.Ala288Gly) SNV Likely pathogenic 48089 rs397517911 1:156105030-156105030 1:156135239-156135239 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.784G>T (p.Glu262Ter) SNV Likely pathogenic 48081 rs397517909 1:156104740-156104740 1:156134949-156134949 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.763del (p.Gln255fs) deletion Likely pathogenic 48079 rs397517908 1:156104718-156104718 1:156134927-156134927 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.1494G>T (p.Trp498Cys) SNV Likely pathogenic 66838 rs57730570 1:156106909-156106909 1:156137118-156137118 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.274C>T (p.Leu92Phe) SNV Likely pathogenic 66885 rs267607560 1:156084983-156084983 1:156115192-156115192 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.98528G>A (p.Trp32843Ter) SNV Likely pathogenic 178936 rs727504550 2:179404264-179404264 2:178539537-178539537 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.98134G>T (p.Glu32712Ter) SNV Likely pathogenic 179162 rs727504679 2:179404658-179404658 2:178539931-178539931 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.94340_94343AGAA[1] (p.Lys31448fs) short repeat Likely pathogenic 165719 rs727503546 2:179411905-179411908 2:178547178-178547181 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.1296_1299GCAC[1] (p.His433_Ala434insTer) short repeat Likely pathogenic 179384 rs267607577 1:156106143-156106150 1:156136352-156136359 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.91476T>G (p.Tyr30492Ter) SNV Likely pathogenic 179124 rs727504646 2:179415782-179415782 2:178551055-178551055 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.83603del (p.Gly27868fs) deletion Likely pathogenic 179642 rs727505014 2:179427256-179427256 2:178562529-178562529 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.82773G>A (p.Trp27591Ter) SNV Likely pathogenic 180014 rs727505288 2:179428086-179428086 2:178563359-178563359 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.81886del (p.Glu27296fs) deletion Likely pathogenic 165801 rs727503557 2:179428973-179428973 2:178564246-178564246 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.80997_81012del (p.Ala26998_Tyr26999insTer) deletion Likely pathogenic 165810 rs727503559 2:179429847-179429862 2:178565120-178565135 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.77421dup (p.Ser25808fs) duplication Likely pathogenic 177983 rs730880343 2:179433437-179433438 2:178568710-178568711 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.52222_52225AAGA[1] (p.Lys17409fs) short repeat Likely pathogenic 165996 rs727503615 2:179473509-179473512 2:178608782-178608785 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.49296_49315del (p.Val16433fs) deletion Likely pathogenic 179375 rs727504825 2:179478809-179478828 2:178614082-178614101 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.100026_100030del (p.Ser33344fs) deletion Likely pathogenic 165667 rs727503537 2:179401806-179401810 2:178537079-178537083 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.71634del (p.Ala23879fs) deletion Likely pathogenic 165852 rs727503565 2:179439225-179439225 2:178574498-178574498 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.70275del (p.Ser23425fs) deletion Likely pathogenic 179134 rs727504655 2:179440584-179440584 2:178575857-178575857 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.68195C>A (p.Ser22732Ter) SNV Likely pathogenic 180107 rs727505352 2:179443562-179443562 2:178578835-178578835 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.60399del (p.Ser20134fs) deletion Likely pathogenic 178819 rs727504466 2:179456053-179456053 2:178591326-178591326 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.91341_91343delinsTAAGTGGGTGTGA (p.Leu30447_Arg30448delinsPheLysTrpValTer) indel Likely pathogenic 179719 rs727505076 2:179415915-179415917 2:178551188-178551190 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.89839C>T (p.Arg29947Ter) SNV Likely pathogenic 179921 rs727505224 2:179417788-179417788 2:178553061-178553061 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.87516del (p.Tyr29173fs) deletion Likely pathogenic 165770 rs727503552 2:179422565-179422565 2:178557838-178557838 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.83407del (p.Val27803fs) deletion Likely pathogenic 179311 rs727504782 2:179427452-179427452 2:178562725-178562725 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.75314dup (p.Val25106fs) duplication Likely pathogenic 222878 rs869025558 2:179435544-179435545 2:178570817-178570818 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.69639dup (p.Val23214fs) duplication Likely pathogenic 222877 rs869025557 2:179441331-179441332 2:178576604-178576605 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.68437G>T (p.Glu22813Ter) SNV Likely pathogenic 222860 rs200797552 2:179442805-179442805 2:178578078-178578078 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.67637-2A>G SNV Likely pathogenic 222869 rs869025550 2:179444122-179444122 2:178579395-178579395 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.65576-2A>G SNV Likely pathogenic 222868 rs869025549 2:179447956-179447956 2:178583229-178583229 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.54990dup (p.Thr18331fs) duplication Likely pathogenic 222872 rs869025552 2:179467138-179467139 2:178602411-178602412 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.45896-2A>G SNV Likely pathogenic 222867 rs869025548 2:179485354-179485354 2:178620627-178620627 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.104010C>A (p.Tyr34670Ter) SNV Likely pathogenic 222863 rs751039219 2:179397332-179397332 2:178532605-178532605 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.94249del (p.Val31417fs) deletion Likely pathogenic 222875 rs869025555 2:179412003-179412003 2:178547276-178547276 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.88421G>A (p.Trp29474Ter) SNV Likely pathogenic 222862 rs869025546 2:179419765-179419765 2:178555038-178555038 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.87849del (p.Leu29283fs) deletion Likely pathogenic 222874 rs869025554 2:179422140-179422140 2:178557413-178557413 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.83789_83790del (p.Glu27930fs) deletion Likely pathogenic 222879 rs869025559 2:179427069-179427070 2:178562342-178562343 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter) SNV Likely pathogenic 222861 rs869025545 2:179431175-179431175 2:178566448-178566448 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.46236C>A (p.Cys15412Ter) SNV Likely pathogenic 223308 rs368200299 2:179485012-179485012 2:178620285-178620285 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.10120A>T (p.Lys3374Ter) SNV Likely pathogenic 222857 rs770029258 2:179623894-179623894 2:178759167-178759167 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.1140+2T>G SNV Likely pathogenic 222590 rs869025398 6:7567684-7567684 6:7567451-7567451 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.5725del (p.Ile1909fs) deletion Likely pathogenic 222592 rs869025399 6:7583219-7583219 6:7582986-7582986 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.5741_5744delinsT (p.Glu1914_Ser1915delinsVal) indel Likely pathogenic 222734 rs869025483 14:23883014-23883017 14:23413805-23413808 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.48863del (p.Pro16288fs) deletion Likely pathogenic 202447 rs794729320 2:179479378-179479378 2:178614651-178614651 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.364_366AAG[1] (p.Lys123del) short repeat Likely pathogenic 200947 rs794728597 1:156100415-156100417 1:156130624-156130626 DLT002 Dilated Cardiomyopathy BAG3 NM_004281.3(BAG3):c.72del (p.Gly25fs) deletion Likely pathogenic 162769 rs727502897 10:121411254-121411254 10:119651742-119651742 DLT002 Dilated Cardiomyopathy VCL NM_014000.3(VCL):c.1544-2A>G SNV Likely pathogenic 166546 rs727503738 10:75855412-75855412 10:74095654-74095654 DLT002 Dilated Cardiomyopathy VCL NM_014000.3(VCL):c.1762C>T (p.Gln588Ter) SNV Likely pathogenic 177889 rs727504381 10:75856980-75856980 10:74097222-74097222 DLT002 Dilated Cardiomyopathy VCL NM_014000.3(VCL):c.3115C>T (p.Gln1039Ter) SNV Likely pathogenic 166556 rs727503741 10:75874107-75874107 10:74114349-74114349 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.2678C>T (p.Ala893Val) SNV Likely pathogenic 177763 rs727503254 14:23893979-23893979 14:23424770-23424770 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.1584G>A (p.Met528Ile) SNV Likely pathogenic 164361 rs727503265 14:23897098-23897098 14:23427889-23427889 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.1615C>T (p.Gln539Ter) SNV Likely pathogenic 178862 rs727504498 6:7570710-7570710 6:7570477-7570477 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.1751del (p.Glu584fs) deletion Likely pathogenic 179720 rs727505077 6:7571665-7571665 6:7571432-7571432 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.4027C>T (p.Gln1343Ter) SNV Likely pathogenic 166322 rs727503697 2:179643782-179643782 2:178779055-178779055 DLT002 Dilated Cardiomyopathy DES NM_001927.4(DES):c.600del (p.Lys201fs) deletion Likely pathogenic 178660 rs727504448 2:220284838-220284838 2:219420116-219420116 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.30484_30493del (p.Thr10162fs) deletion Likely pathogenic 178672 rs727504452 2:179566913-179566922 2:178702186-178702195 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.45895+1G>A SNV Likely pathogenic 178984 rs727504589 2:179485441-179485441 2:178620714-178620714 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.491_492delinsAGCTCGAGTCCCTCG (p.Ala164fs) indel Likely pathogenic 179249 rs727504738 6:7559527-7559528 6:7559294-7559295 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.2130+1G>A SNV Likely pathogenic 179772 rs727505115 6:7572302-7572302 6:7572069-7572069 DLT002 Dilated Cardiomyopathy RBM20 NM_001134363.3(RBM20):c.2746G>A (p.Glu916Lys) SNV Likely pathogenic 179425 rs727504859 10:112581123-112581123 10:110821365-110821365 DLT002 Dilated Cardiomyopathy BAG3 NM_004281.3(BAG3):c.100_107del (p.Thr34fs) deletion Likely pathogenic 180009 rs727505283 10:121411286-121411293 10:119651774-119651781 DLT002 Dilated Cardiomyopathy BAG3 NM_004281.3(BAG3):c.1067del (p.Pro356fs) deletion Likely pathogenic 179764 rs727505109 10:121436129-121436129 10:119676617-119676617 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.4824dup (p.Ala1609fs) duplication Likely pathogenic 163276 rs727503003 6:7581245-7581246 6:7581012-7581013 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.55800G>A (p.Trp18600Ter) SNV Likely pathogenic 165964 rs727503598 2:179465831-179465831 2:178601104-178601104 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter) SNV Likely pathogenic 165975 rs727503602 2:179468776-179468776 2:178604049-178604049 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.49813del (p.Val16605fs) deletion Likely pathogenic 180579 rs730880245 2:179477635-179477635 2:178612908-178612908 DLT002 Dilated Cardiomyopathy TAZ NM_000116.5(TAZ):c.347G>A (p.Gly116Asp) SNV Likely pathogenic 177794 rs727504327 X:153641881-153641881 X:154413544-154413544 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.6393del (p.Gly2133fs) deletion Likely pathogenic 180344 rs730880093 6:7583888-7583888 6:7583655-7583655 DLT002 Dilated Cardiomyopathy BAG3 NM_004281.3(BAG3):c.1297C>T (p.Gln433Ter) SNV Likely pathogenic 180283 rs730880055 10:121436363-121436363 10:119676851-119676851 DLT002 Dilated Cardiomyopathy MYBPC3 NM_000256.3(MYBPC3):c.3227A>G (p.Asp1076Gly) SNV Likely pathogenic 180413 rs730880140 11:47354848-47354848 11:47333297-47333297 DLT002 Dilated Cardiomyopathy MYBPC3 NM_000256.3(MYBPC3):c.1960C>G (p.Arg654Gly) SNV Likely pathogenic 180410 rs397515939 11:47361309-47361309 11:47339758-47339758 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.2347C>G (p.Arg783Gly) SNV Likely pathogenic 164335 rs727503258 14:23894567-23894567 14:23425358-23425358 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.1549C>A (p.Leu517Met) SNV Likely pathogenic 177624 rs727504237 14:23897738-23897738 14:23428529-23428529 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.5376_5377AG[3] (p.Ala1794fs) short repeat Likely pathogenic 163231 rs727502994 6:7581798-7581799 6:7581565-7581566 DLT002 Dilated Cardiomyopathy ACTC1 NM_005159.5(ACTC1):c.866T>C (p.Ile289Thr) SNV Likely pathogenic 177886 rs727504379 15:35083439-35083439 15:34791238-34791238 DLT002 Dilated Cardiomyopathy TPM1 NM_001018005.2(TPM1):c.416A>T (p.Glu139Val) SNV Likely pathogenic 177896 rs727504389 15:63351803-63351803 15:63059604-63059604 DLT002 Dilated Cardiomyopathy LAMP2 NM_013995.2(LAMP2):c.999del (p.Glu334fs) deletion Likely pathogenic 178945 rs727504557 X:119575679-119575679 X:120441824-120441824 DLT002 Dilated Cardiomyopathy TAZ NM_000116.5(TAZ):c.647G>T (p.Gly216Val) SNV Likely pathogenic 177990 rs727504431 X:153648551-153648551 X:154420212-154420212 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.103597_103598GA[1] (p.Arg34534fs) short repeat Likely pathogenic 180581 rs730880246 2:179397740-179397743 2:178533013-178533016 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.95966del (p.Asn31989fs) deletion Likely pathogenic 180580 rs72648265 2:179408990-179408990 2:178544263-178544263 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.87316G>T (p.Glu29106Ter) SNV Likely pathogenic 180576 rs730880243 2:179422765-179422765 2:178558038-178558038 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.71500C>T (p.Gln23834Ter) SNV Likely pathogenic 180575 rs730880242 2:179439359-179439359 2:178574632-178574632 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.69783G>A (p.Trp23261Ter) SNV Likely pathogenic 180574 rs730880241 2:179441076-179441076 2:178576349-178576349 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.84376C>T (p.Gln28126Ter) SNV Likely pathogenic 223387 rs869312119 2:179426483-179426483 2:178561756-178561756 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.87887_87890del (p.His29296fs) deletion Likely pathogenic 223388 rs869312120 2:179422099-179422102 2:178557372-178557375 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.94855C>T (p.Arg31619Ter) SNV Likely pathogenic 223389 rs869312121 2:179411203-179411203 2:178546476-178546476 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.101098_101099insT (p.Asp33700fs) insertion Likely pathogenic 223390 rs869312122 2:179400243-179400244 2:178535516-178535517 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.45756dup (p.Tyr15253fs) duplication Likely pathogenic 224649 rs869312045 2:179485580-179485581 2:178620853-178620854 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.42311_42314GAAA[1] (p.Lys14105fs) short repeat Likely pathogenic 242422 rs878854371 2:179499190-179499193 2:178634463-178634466 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.47140_47141TG[3] (p.Glu15715fs) short repeat Likely pathogenic 223370 rs869312107 2:179483041-179483042 2:178618314-178618315 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.47692C>T (p.Arg15898Ter) SNV Likely pathogenic 223371 rs775186117 2:179482120-179482120 2:178617393-178617393 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.49458G>A (p.Trp16486Ter) SNV Likely pathogenic 223372 rs869312108 2:179478552-179478552 2:178613825-178613825 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.56206del (p.Thr18736fs) deletion Likely pathogenic 223373 rs869312109 2:179464422-179464422 2:178599695-178599695 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.56834del (p.Gly18945fs) deletion Likely pathogenic 223374 rs869312110 2:179463603-179463603 2:178598876-178598876 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.59352del (p.Glu19785fs) deletion Likely pathogenic 223375 rs869312111 2:179457380-179457380 2:178592653-178592653 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.59411dup (p.Arg19805fs) duplication Likely pathogenic 223376 rs755261062 2:179457320-179457321 2:178592593-178592594 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.61495C>T (p.Arg20499Ter) SNV Likely pathogenic 223377 rs869312112 2:179454957-179454957 2:178590230-178590230 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.65476G>T (p.Glu21826Ter) SNV Likely pathogenic 223378 rs763824247 2:179448433-179448433 2:178583706-178583706 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.69491_69492del (p.Val23164fs) deletion Likely pathogenic 223379 rs869312113 2:179441479-179441480 2:178576752-178576753 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.69877G>T (p.Gly23293Ter) SNV Likely pathogenic 223380 rs869312114 2:179440982-179440982 2:178576255-178576255 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.73109G>A (p.Trp24370Ter) SNV Likely pathogenic 223381 rs869312115 2:179437750-179437750 2:178573023-178573023 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.74880_74883dup (p.Pro24962fs) duplication Likely pathogenic 223382 rs869312116 2:179435975-179435976 2:178571248-178571249 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.14056del (p.Thr4686fs) deletion Likely pathogenic 223366 rs869312104 2:179603904-179603904 2:178739177-178739177 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.41835T>G (p.Tyr13945Ter) SNV Likely pathogenic 223367 rs869312105 2:179500216-179500216 2:178635489-178635489 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.42636del (p.Ala14213fs) deletion Likely pathogenic 223368 rs869312106 2:179498590-179498590 2:178633863-178633863 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.86641del (p.His28881fs) deletion Likely pathogenic 223296 rs869312061 2:179424218-179424218 2:178559491-178559491 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.86967G>A (p.Trp28989Ter) SNV Likely pathogenic 223297 rs869312062 2:179423219-179423219 2:178558492-178558492 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.89750dup (p.Val29918fs) duplication Likely pathogenic 223298 rs869312063 2:179417876-179417877 2:178553149-178553150 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.90087_90088del (p.Glu30029fs) deletion Likely pathogenic 223299 rs869312064 2:179417539-179417540 2:178552812-178552813 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter) SNV Likely pathogenic 223300 rs869312065 2:179413670-179413670 2:178548943-178548943 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.94852_94858del (p.Ala31618fs) deletion Likely pathogenic 223301 rs869312066 2:179411200-179411206 2:178546473-178546479 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.95415_95416+2del deletion Likely pathogenic 223302 rs769407533 2:179410545-179410548 2:178545818-178545821 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.98265_98268dup (p.His32757fs) duplication Likely pathogenic 223303 rs869312067 2:179404523-179404524 2:178539796-178539797 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.101996G>A (p.Trp33999Ter) SNV Likely pathogenic 223304 rs869312068 2:179399346-179399346 2:178534619-178534619 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.106629del (p.Ala35544fs) deletion Likely pathogenic 223305 rs869312069 2:179393849-179393849 2:178529122-178529122 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.41447del (p.Gly13816fs) deletion Likely pathogenic 223273 rs869312042 2:179500851-179500851 2:178636124-178636124 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.55303-1G>A SNV Likely pathogenic 223284 rs748369265 2:179466515-179466515 2:178601788-178601788 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.55525_55531del (p.Asp18509fs) deletion Likely pathogenic 223285 rs869312052 2:179466193-179466199 2:178601466-178601472 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.94562dup (p.Thr31522fs) duplication Likely pathogenic 223327 rs869312083 2:179411592-179411593 2:178546865-178546866 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.96460dup (p.Thr32154fs) duplication Likely pathogenic 223328 rs869312084 2:179408239-179408240 2:178543512-178543513 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter) SNV Likely pathogenic 223329 rs869312085 2:179404286-179404286 2:178539559-178539559 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.100445C>A (p.Ser33482Ter) SNV Likely pathogenic 223330 rs869312086 2:179401029-179401029 2:178536302-178536302 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.101021_101022del (p.Arg33674fs) deletion Likely pathogenic 223331 rs869312087 2:179400320-179400321 2:178535593-178535594 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.50247del (p.Phe16749fs) deletion Likely pathogenic 223310 rs869312071 2:179477005-179477005 2:178612278-178612278 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.53488G>T (p.Gly17830Ter) SNV Likely pathogenic 223311 rs759231562 2:179471841-179471841 2:178607114-178607114 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.58172del (p.Asp19391fs) deletion Likely pathogenic 223312 rs869312072 2:179458948-179458948 2:178594221-178594221 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.59627-1G>A SNV Likely pathogenic 223313 rs869312073 2:179457005-179457005 2:178592278-178592278 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) SNV Likely pathogenic 223314 rs764243269 2:179452435-179452435 2:178587708-178587708 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.64453C>T (p.Arg21485Ter) SNV Likely pathogenic 223315 rs768345594 2:179450018-179450018 2:178585291-178585291 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.69412+1G>A SNV Likely pathogenic 223316 rs869312074 2:179441649-179441649 2:178576922-178576922 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.69843del (p.Lys23281_Val23282insTer) deletion Likely pathogenic 223317 rs869312075 2:179441016-179441016 2:178576289-178576289 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.70791del (p.Gly23598fs) deletion Likely pathogenic 223318 rs869312076 2:179440068-179440068 2:178575341-178575341 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.76116_76117insA (p.His25373fs) insertion Likely pathogenic 223319 rs869312077 2:179434742-179434743 2:178570015-178570016 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.76383_76386del (p.Asn25462fs) deletion Likely pathogenic 223320 rs869312078 2:179434473-179434476 2:178569746-178569749 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.81518del (p.Pro27173fs) deletion Likely pathogenic 223321 rs869312079 2:179429341-179429341 2:178564614-178564614 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.86457_86458CT[1] (p.Ser28820fs) short repeat Likely pathogenic 223322 rs869312080 2:179424399-179424400 2:178559672-178559673 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.87624C>A (p.Tyr29208Ter) SNV Likely pathogenic 223323 rs772121356 2:179422457-179422457 2:178557730-178557730 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.89896_89899ATTA[1] (p.Asn29967fs) short repeat Likely pathogenic 223324 rs869312081 2:179417724-179417727 2:178552997-178553000 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.90322_90323insT (p.Glu30108fs) insertion Likely pathogenic 223325 rs869312082 2:179417304-179417305 2:178552577-178552578 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.43792del (p.Gly14597_Val14598insTer) deletion Likely pathogenic 223275 rs869312044 2:179495983-179495983 2:178631256-178631256 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.45812T>G (p.Leu15271Ter) SNV Likely pathogenic 223276 rs869312046 2:179485525-179485525 2:178620798-178620798 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.47697C>A (p.Cys15899Ter) SNV Likely pathogenic 223277 rs373040154 2:179482115-179482115 2:178617388-178617388 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.47875+1G>A SNV Likely pathogenic 223278 rs869312047 2:179481846-179481846 2:178617119-178617119 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.48527G>A (p.Trp16176Ter) SNV Likely pathogenic 223279 rs869312048 2:179480145-179480145 2:178615418-178615418 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.52035_52036insTT (p.Leu17346fs) insertion Likely pathogenic 223280 rs869312049 2:179474001-179474002 2:178609274-178609275 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.52223_52227dup (p.Asp17410fs) duplication Likely pathogenic 223281 rs869312050 2:179473510-179473511 2:178608783-178608784 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.53881+1G>T SNV Likely pathogenic 223282 rs869312051 2:179470140-179470140 2:178605413-178605413 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.58732+2T>C SNV Likely pathogenic 223287 rs869312054 2:179458293-179458293 2:178593566-178593566 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter) SNV Likely pathogenic 223288 rs869312055 2:179455521-179455521 2:178590794-178590794 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.69630C>A (p.Tyr23210Ter) SNV Likely pathogenic 223289 rs777602537 2:179441341-179441341 2:178576614-178576614 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.74306dup (p.Asn24769fs) duplication Likely pathogenic 223290 rs869312056 2:179436552-179436553 2:178571825-178571826 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.78184G>T (p.Glu26062Ter) SNV Likely pathogenic 223291 rs869312057 2:179432675-179432675 2:178567948-178567948 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.78507del (p.Gly26170fs) deletion Likely pathogenic 223292 rs869312058 2:179432352-179432352 2:178567625-178567625 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.81262_81269del (p.Gln27088fs) deletion Likely pathogenic 223293 rs869312059 2:179429590-179429597 2:178564863-178564870 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.82513del (p.Ile27505fs) deletion Likely pathogenic 223294 rs869312060 2:179428346-179428346 2:178563619-178563619 DLT002 Dilated Cardiomyopathy BAG3 NM_004281.3(BAG3):c.909+1G>A SNV Likely pathogenic 222512 rs869025365 10:121432169-121432169 10:119672657-119672657 DLT002 Dilated Cardiomyopathy SCO2 NM_152299.4(NCAPH2):c.*1020_*1021insTGAGTCACTGCTGCATGCT insertion Likely pathogenic 222816 rs749838192 22:50962824-50962825 22:50524395-50524396 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.8305_8306TG[1] (p.Ala2770fs) short repeat Likely pathogenic 223266 rs869312037 2:179635211-179635212 2:178770484-178770485 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.12641_12642CA[1] (p.Gln4215fs) short repeat Likely pathogenic 223267 rs869312038 2:179605316-179605317 2:178740589-178740590 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.12757C>T (p.Gln4253Ter) SNV Likely pathogenic 223268 rs869312039 2:179605203-179605203 2:178740476-178740476 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.29062del (p.Ala9688fs) deletion Likely pathogenic 223270 rs869312040 2:179571661-179571661 2:178706934-178706934 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.32888-1del deletion Likely pathogenic 223271 rs869312041 2:179547631-179547631 2:178682904-178682904 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.85510G>T (p.Glu28504Ter) SNV Likely pathogenic 228306 rs876657670 2:179425349-179425349 2:178560622-178560622 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.80494G>T (p.Glu26832Ter) SNV Likely pathogenic 228305 rs780512337 2:179430365-179430365 2:178565638-178565638 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.72832dup (p.Thr24278fs) duplication Likely pathogenic 228304 rs876657669 2:179438026-179438027 2:178573299-178573300 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.64397-1G>C SNV Likely pathogenic 228303 rs876657668 2:179450075-179450075 2:178585348-178585348 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.64094-2A>G SNV Likely pathogenic 228302 rs876657667 2:179451536-179451536 2:178586809-178586809 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.62909dup (p.Glu20971fs) duplication Likely pathogenic 228301 rs876657666 2:179453542-179453543 2:178588815-178588816 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.476del (p.Glu159fs) deletion Likely pathogenic 228272 rs876657650 1:156100527-156100527 1:156130736-156130736 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.78091_78094GAAA[1] (p.Arg26032fs) short repeat Likely pathogenic 223384 rs869312117 2:179432761-179432764 2:178568034-178568037 DLT002 Dilated Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.354_355delinsGT (p.His119Tyr) indel Likely pathogenic 229336 rs876658027 1:201334375-201334376 1:201365247-201365248 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.99866-1G>A SNV Likely pathogenic 228309 rs876657672 2:179401971-179401971 2:178537244-178537244 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.96268C>T (p.Gln32090Ter) SNV Likely pathogenic 228308 rs876657671 2:179408603-179408603 2:178543876-178543876 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.48761-1G>C SNV Likely pathogenic 228300 rs876657665 2:179479481-179479481 2:178614754-178614754 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.13614dup (p.Asn4539Ter) duplication Likely pathogenic 228310 rs876657673 2:179604345-179604346 2:178739618-178739619 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.10241_10247del (p.Tyr3414fs) deletion Likely pathogenic 228298 rs876657663 2:179623767-179623773 2:178759040-178759046 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.3507C>A (p.Tyr1169Ter) SNV Likely pathogenic 228254 rs148894066 6:7579930-7579930 6:7579697-7579697 DLT002 Dilated Cardiomyopathy TPM1 NM_001018005.2(TPM1):c.496G>A (p.Ala166Thr) SNV Likely pathogenic 228297 rs876657662 15:63353071-63353071 15:63060872-63060872 DLT002 Dilated Cardiomyopathy VCL NM_014000.3(VCL):c.670dup (p.Glu224fs) duplication Likely pathogenic 228312 rs876657674 10:75834547-75834548 10:74074789-74074790 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.4003C>T (p.Gln1335Ter) SNV Likely pathogenic 253001 rs879255521 6:7580426-7580426 6:7580193-7580193 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter) SNV Conflicting interpretations of pathogenicity 264269 rs202059967 22:19865895-19865895 22:19878372-19878372 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.357+64493A>C SNV Conflicting interpretations of pathogenicity 240650 rs536400111 10:21186108-21186108 10:20897179-20897179 DLT002 Dilated Cardiomyopathy MYH6 NM_002471.3(MYH6):c.4594C>T (p.Arg1532Cys) SNV Conflicting interpretations of pathogenicity 239175 rs201827489 14:23856794-23856794 14:23387585-23387585 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.205A>G (p.Thr69Ala) SNV Conflicting interpretations of pathogenicity 229043 rs780384504 10:21178827-21178827 10:20889898-20889898 DLT002 Dilated Cardiomyopathy RBM20 NM_001134363.3(RBM20):c.1013T>C (p.Met338Thr) SNV Conflicting interpretations of pathogenicity 229181 rs876657970 10:112541380-112541380 10:110781622-110781622 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.399-10A>G SNV Conflicting interpretations of pathogenicity 229141 rs199979457 4:186429726-186429726 4:185508572-185508572 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.41483del (p.Pro13828fs) deletion Conflicting interpretations of pathogenicity 228299 rs876657664 2:179500815-179500815 2:178636088-178636088 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.383A>T (p.Gln128Leu) SNV Conflicting interpretations of pathogenicity 229049 rs139809958 10:21169820-21169820 10:20880891-20880891 DLT002 Dilated Cardiomyopathy DMD NM_004006.3(DMD):c.2245A>G (p.Ile749Val) SNV Conflicting interpretations of pathogenicity 226049 rs771803281 X:32536172-32536172 X:32518055-32518055 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala) SNV Conflicting interpretations of pathogenicity 229449 rs377289817 2:179476198-179476198 2:178611471-178611471 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.529-5C>T SNV Conflicting interpretations of pathogenicity 264485 rs766288973 22:19902804-19902804 22:19915281-19915281 DLT002 Dilated Cardiomyopathy APOB NM_000384.3(APOB):c.3383G>A (p.Arg1128His) SNV Conflicting interpretations of pathogenicity 281142 rs12713843 2:21238367-21238367 2:21015495-21015495 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.97524A>G (p.Ile32508Met) SNV Conflicting interpretations of pathogenicity 332716 rs755848026 2:179406280-179406280 2:178541553-178541553 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.6958C>T (p.Arg2320Cys) SNV Conflicting interpretations of pathogenicity 332949 rs776478343 2:179639033-179639033 2:178774306-178774306 DLT002 Dilated Cardiomyopathy BAG3 NM_004281.3(BAG3):c.1634C>G (p.Pro545Arg) SNV Conflicting interpretations of pathogenicity 298963 rs759348679 10:121436700-121436700 10:119677188-119677188 DLT002 Dilated Cardiomyopathy ACTC1 NM_005159.5(ACTC1):c.809-58TG[17] short repeat Conflicting interpretations of pathogenicity 315709 rs59431308 15:35083509-35083520 15:34791308-34791319 DLT002 Dilated Cardiomyopathy TAZ NM_000116.5(TAZ):c.504G>A (p.Lys168=) SNV Conflicting interpretations of pathogenicity 368087 rs1057515818 X:153647925-153647925 X:154419586-154419586 DLT002 Dilated Cardiomyopathy KCNE1 NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile) SNV Conflicting interpretations of pathogenicity 372392 rs747321794 21:35821760-35821760 21:34449462-34449462 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.246G>A (p.Arg82=) SNV Conflicting interpretations of pathogenicity 380756 rs200354645 4:186444600-186444600 4:185523446-185523446 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.529+4171A>G SNV Conflicting interpretations of pathogenicity 378267 rs202127185 10:21097527-21097527 10:20808598-20808598 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-15591C>T SNV Conflicting interpretations of pathogenicity 379214 rs146275785 10:21117460-21117460 10:20828531-20828531 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.62506C>T (p.Arg20836Ter) SNV Conflicting interpretations of pathogenicity 223258 rs757231565 2:179453946-179453946 2:178589219-178589219 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.12870dup (p.Val4291fs) duplication Conflicting interpretations of pathogenicity 222876 rs869025556 2:179605089-179605090 2:178740362-178740363 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.40558+1G>A SNV Conflicting interpretations of pathogenicity 223256 rs368219776 2:179506963-179506963 2:178642236-178642236 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.87716del (p.Gly29239fs) deletion Conflicting interpretations of pathogenicity 223260 rs869312028 2:179422273-179422273 2:178557546-178557546 DLT002 Dilated Cardiomyopathy ABCC9 NM_005691.3(ABCC9):c.4570_4572delinsAAAT (p.Leu1524fs) indel Conflicting interpretations of pathogenicity 222477 rs869025349 12:21958186-21958188 12:21805252-21805254 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter) SNV Conflicting interpretations of pathogenicity 223274 rs869312043 2:179500825-179500825 2:178636098-178636098 DLT002 Dilated Cardiomyopathy TTN NM_133378.4(TTN):c.10361-1G>A SNV Conflicting interpretations of pathogenicity 223347 rs869312099 2:179603088-179603088 2:178738361-178738361 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.44284C>T (p.Arg14762Ter) SNV Conflicting interpretations of pathogenicity 223369 rs770767998 2:179494168-179494168 2:178629441-178629441 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.44281+1G>A SNV Conflicting interpretations of pathogenicity 223307 rs771562210 2:179494967-179494967 2:178630240-178630240 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.11912G>A (p.Trp3971Ter) SNV Conflicting interpretations of pathogenicity 223364 rs869312102 2:179606048-179606048 2:178741321-178741321 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.13900G>T (p.Glu4634Ter) SNV Conflicting interpretations of pathogenicity 223365 rs869312103 2:179604060-179604060 2:178739333-178739333 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.91715dup (p.Asn30572fs) duplication Conflicting interpretations of pathogenicity 223353 rs779129892 2:179414849-179414850 2:178550122-178550123 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.92279_92283AAAAG[3] (p.Ser30763fs) short repeat Conflicting interpretations of pathogenicity 223354 rs756367933 2:179414064-179414065 2:178549337-178549338 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.76115dup (p.Asn25372fs) duplication Conflicting interpretations of pathogenicity 223383 rs774604740 2:179434743-179434744 2:178570016-178570017 DLT002 Dilated Cardiomyopathy RYR2 NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp) SNV Conflicting interpretations of pathogenicity 180497 rs200420897 1:237821259-237821259 1:237657959-237657959 DLT002 Dilated Cardiomyopathy RYR2 NM_001035.3(RYR2):c.8209-4T>C SNV Conflicting interpretations of pathogenicity 180498 rs371966353 1:237823281-237823281 1:237659981-237659981 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.104092C>T (p.Arg34698Ter) SNV Conflicting interpretations of pathogenicity 167754 rs727504184 2:179397250-179397250 2:178532523-178532523 DLT002 Dilated Cardiomyopathy ACADVL NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) SNV Conflicting interpretations of pathogenicity 166647 rs146379816 17:7127698-7127698 17:7224379-7224379 DLT002 Dilated Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) SNV Conflicting interpretations of pathogenicity 180554 rs45586240 1:201331117-201331117 1:201361989-201361989 DLT002 Dilated Cardiomyopathy TMPO NM_001032283.3(TMPO):c.565+1728G>C SNV Conflicting interpretations of pathogenicity 178143 rs145703021 12:98927344-98927344 12:98533566-98533566 DLT002 Dilated Cardiomyopathy PKP2 NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val) SNV Conflicting interpretations of pathogenicity 179097 rs551045165 12:32949167-32949167 12:32796233-32796233 DLT002 Dilated Cardiomyopathy PKP2 NM_001005242.3(PKP2):c.1379-2019C>T SNV Conflicting interpretations of pathogenicity 179026 rs149930872 12:32996158-32996158 12:32843224-32843224 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys) SNV Conflicting interpretations of pathogenicity 164316 rs727503253 14:23893328-23893328 14:23424119-23424119 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.4499G>A (p.Arg1500Gln) SNV Conflicting interpretations of pathogenicity 180439 rs121913647 14:23886382-23886382 14:23417173-23417173 DLT002 Dilated Cardiomyopathy RBM20 NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) SNV Conflicting interpretations of pathogenicity 180484 rs563762318 10:112590912-112590912 10:110831154-110831154 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.2569G>A (p.Gly857Ser) SNV Conflicting interpretations of pathogenicity 180324 rs548695484 6:7575660-7575660 6:7575427-7575427 DLT002 Dilated Cardiomyopathy SCN5A NM_000335.4(SCN5A):c.393-5C>A SNV Conflicting interpretations of pathogenicity 180519 rs368678204 3:38663985-38663985 3:38622494-38622494 DLT002 Dilated Cardiomyopathy SCN5A NM_000335.5(SCN5A):c.998+5G>A SNV Conflicting interpretations of pathogenicity 165158 rs187531872 3:38649637-38649637 3:38608146-38608146 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) SNV Conflicting interpretations of pathogenicity 178032 rs147415451 6:7581601-7581601 6:7581368-7581368 DLT002 Dilated Cardiomyopathy RBM20 NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser) SNV Conflicting interpretations of pathogenicity 165048 rs727503392 10:112581492-112581492 10:110821734-110821734 DLT002 Dilated Cardiomyopathy RBM20 NM_001134363.3(RBM20):c.680G>T (p.Gly227Val) SNV Conflicting interpretations of pathogenicity 178111 rs202238753 10:112541047-112541047 10:110781289-110781289 DLT002 Dilated Cardiomyopathy EYA4 NC_000006.11:g.133783902_(133785996_?)del deletion Conflicting interpretations of pathogenicity 163445 6:133783902-133785996 6:133462764-133464858 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) SNV Conflicting interpretations of pathogenicity 178217 rs192766485 2:179494968-179494968 2:178630241-178630241 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.43600C>T (p.Gln14534Ter) SNV Conflicting interpretations of pathogenicity 178865 rs727504499 2:179497021-179497021 2:178632294-178632294 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.24385G>T (p.Glu8129Ter) SNV Conflicting interpretations of pathogenicity 179397 rs727504843 2:179583542-179583542 2:178718815-178718815 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.12748G>A (p.Val4250Met) SNV Conflicting interpretations of pathogenicity 178257 rs201437752 2:179605212-179605212 2:178740485-178740485 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.39044-9T>A SNV Conflicting interpretations of pathogenicity 166093 rs184888200 2:179517277-179517277 2:178652550-178652550 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.12405del (p.Asn4135fs) deletion Conflicting interpretations of pathogenicity 166237 rs727503658 2:179605555-179605555 2:178740828-178740828 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.2052G>A (p.Met684Ile) SNV Conflicting interpretations of pathogenicity 164349 rs727503262 14:23895283-23895283 14:23426074-23426074 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.1108C>A (p.Gln370Lys) SNV Conflicting interpretations of pathogenicity 178098 rs146198369 10:21139332-21139332 10:20850403-20850403 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter) SNV Conflicting interpretations of pathogenicity 178101 rs147622517 10:21177128-21177128 10:20888199-20888199 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.82-4A>G SNV Conflicting interpretations of pathogenicity 164771 rs368268112 10:21185962-21185962 10:20897033-20897033 DLT002 Dilated Cardiomyopathy MYBPC3 NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) SNV Conflicting interpretations of pathogenicity 177689 rs187705120 11:47354442-47354442 11:47332891-47332891 DLT002 Dilated Cardiomyopathy BAG3 NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) SNV Conflicting interpretations of pathogenicity 178007 rs145393807 10:121429462-121429462 10:119669950-119669950 DLT002 Dilated Cardiomyopathy RBM20 NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs) indel Conflicting interpretations of pathogenicity 179284 rs727504763 10:112581638-112581639 10:110821880-110821881 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.2445G>A (p.Val815=) SNV Conflicting interpretations of pathogenicity 164740 rs578252294 10:21101771-21101771 10:20812842-20812842 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.2148+4T>C SNV Conflicting interpretations of pathogenicity 164744 rs193163659 10:21106525-21106525 10:20817596-20817596 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.2346+6G>A SNV Conflicting interpretations of pathogenicity 164743 rs201822024 10:21102862-21102862 10:20813933-20813933 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.369+5G>A SNV Conflicting interpretations of pathogenicity 178100 rs200249470 10:21177021-21177021 10:20888092-20888092 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) SNV Conflicting interpretations of pathogenicity 200938 rs794728591 1:156104602-156104602 1:156134811-156134811 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.768G>A (p.Val256=) SNV Conflicting interpretations of pathogenicity 200941 rs794728593 1:156104724-156104724 1:156134933-156134933 DLT002 Dilated Cardiomyopathy DMD NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) SNV Conflicting interpretations of pathogenicity 197522 rs149322279 X:31986499-31986499 X:31968382-31968382 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.250G>A (p.Glu84Lys) SNV Conflicting interpretations of pathogenicity 200953 rs794728602 1:156084959-156084959 1:156115168-156115168 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.344A>T (p.Glu115Val) SNV Conflicting interpretations of pathogenicity 200932 rs794728588 1:156085053-156085053 1:156115262-156115262 DLT002 Dilated Cardiomyopathy TMPO NM_003276.2(TMPO):c.1277C>T (p.Pro426Leu) SNV Conflicting interpretations of pathogenicity 192133 rs141443652 12:98927312-98927312 12:98533534-98533534 DLT002 Dilated Cardiomyopathy VCL NM_014000.2(VCL):c.2827C>G (p.Pro943Ala) SNV Conflicting interpretations of pathogenicity 192181 rs71579375 10:75871748-75871748 10:74111990-74111990 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.53590A>G (p.Thr17864Ala) SNV Conflicting interpretations of pathogenicity 195716 rs375309278 2:179470432-179470432 2:178605705-178605705 DLT002 Dilated Cardiomyopathy HCN4 NM_005477.3(HCN4):c.458A>G (p.Glu153Gly) SNV Conflicting interpretations of pathogenicity 180370 rs560874115 15:73660154-73660154 15:73367813-73367813 DLT002 Dilated Cardiomyopathy DTNA NM_032978.7(DTNA):c.1240C>T (p.Arg414Trp) SNV Conflicting interpretations of pathogenicity 180346 rs199867593 18:32418785-32418785 18:34838821-34838821 DLT002 Dilated Cardiomyopathy DMD NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr) SNV Conflicting interpretations of pathogenicity 180314 rs201302282 X:32361289-32361289 X:32343172-32343172 DLT002 Dilated Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.544G>T (p.Ala182Ser) SNV Conflicting interpretations of pathogenicity 181612 rs730881097 1:201332480-201332480 1:201363352-201363352 DLT002 Dilated Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.490-1G>C SNV Conflicting interpretations of pathogenicity 181619 rs111344408 1:201332535-201332535 1:201363407-201363407 DLT002 Dilated Cardiomyopathy MYBPC3 NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys) SNV Conflicting interpretations of pathogenicity 181022 rs730880603 11:47353666-47353666 11:47332115-47332115 DLT002 Dilated Cardiomyopathy MYBPC3 NM_000256.3(MYBPC3):c.1826C>T (p.Ala609Val) SNV Conflicting interpretations of pathogenicity 180953 rs730880553 11:47362760-47362760 11:47341209-47341209 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.1128C>A (p.Asp376Glu) SNV Conflicting interpretations of pathogenicity 181170 rs2231126 14:23898994-23898994 14:23429785-23429785 DLT002 Dilated Cardiomyopathy ANK2 NM_001148.6(ANK2):c.1910C>T (p.Ala637Val) SNV Conflicting interpretations of pathogenicity 190551 rs150488571 4:114203859-114203859 4:113282703-113282703 DLT002 Dilated Cardiomyopathy CACNB2 NM_201596.3(CACNB2):c.1816C>G (p.Arg606Gly) SNV Conflicting interpretations of pathogenicity 191569 rs61733968 10:18828486-18828486 10:18539557-18539557 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.2(ANKRD1):c.313C>T (p.Pro105Ser) SNV Conflicting interpretations of pathogenicity 192112 rs148189486 10:92678920-92678920 10:90919163-90919163 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) SNV Conflicting interpretations of pathogenicity 202367 rs140743001 2:179494977-179494977 2:178630250-178630250 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.43544dup (p.Phe14516fs) duplication Conflicting interpretations of pathogenicity 202536 rs752856716 2:179497076-179497077 2:178632349-178632350 DLT002 Dilated Cardiomyopathy VCL NM_003373.4(VCL):c.2746-2193_2746-2192del deletion Conflicting interpretations of pathogenicity 202163 rs781036800 10:75871749-75871750 10:74111991-74111992 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.2(ANKRD1):c.369G>A (p.Thr123=) SNV Conflicting interpretations of pathogenicity 201659 rs148979787 10:92678706-92678706 10:90918949-90918949 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.2(ANKRD1):c.346-15_346-14del deletion Conflicting interpretations of pathogenicity 201656 rs794728971 10:92678743-92678744 10:90918986-90918987 DLT002 Dilated Cardiomyopathy DSG2 NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr) SNV Conflicting interpretations of pathogenicity 199805 rs758537946 18:29111007-29111007 18:31531044-31531044 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.896G>A (p.Ser299Asn) SNV Conflicting interpretations of pathogenicity 201948 rs143812960 4:186425638-186425638 4:185504484-185504484 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.715G>A (p.Asp239Asn) SNV Conflicting interpretations of pathogenicity 201953 rs142143310 4:186427754-186427754 4:185506600-185506600 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-13538G>A SNV Conflicting interpretations of pathogenicity 201904 rs151035799 10:21115407-21115407 10:20826478-20826478 DLT002 Dilated Cardiomyopathy DMD NM_004006.3(DMD):c.*23_*35del deletion Conflicting interpretations of pathogenicity 201754 rs752332058 X:31140001-31140013 X:31121884-31121896 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.448A>G (p.Thr150Ala) SNV Conflicting interpretations of pathogenicity 222692 rs58917027 1:156100499-156100499 1:156130708-156130708 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-55794A>G SNV Conflicting interpretations of pathogenicity 201898 rs794729077 10:21157663-21157663 10:20868734-20868734 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.31472T>C (p.Met10491Thr) SNV Conflicting interpretations of pathogenicity 202563 rs769226745 2:179558690-179558690 2:178693963-178693963 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.29042-2A>C SNV Conflicting interpretations of pathogenicity 202355 rs6716782 2:179571683-179571683 2:178706956-178706956 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.11183dup (p.Leu3729fs) duplication Conflicting interpretations of pathogenicity 202507 rs778172350 2:179621019-179621020 2:178756292-178756293 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.4719_4723TGAAA[1] (p.Met1575fs) short repeat Conflicting interpretations of pathogenicity 202501 rs756433029 2:179641962-179641966 2:178777235-178777239 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.937-8C>A SNV Conflicting interpretations of pathogenicity 222694 rs751707982 1:156105684-156105684 1:156135893-156135893 DLT002 Dilated Cardiomyopathy FHL2 NM_001318895.3(FHL2):c.337C>T (p.Arg113Cys) SNV Conflicting interpretations of pathogenicity 178036 rs140148322 2:105984191-105984191 2:105367734-105367734 DLT002 Dilated Cardiomyopathy NEXN NM_144573.4(NEXN):c.865-5G>A SNV Conflicting interpretations of pathogenicity 180108 rs727505353 1:78394996-78394996 1:77929311-77929311 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val) SNV Conflicting interpretations of pathogenicity 165813 rs201562505 2:179430158-179430158 2:178565431-178565431 DLT002 Dilated Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val) SNV Conflicting interpretations of pathogenicity 177873 rs369181536 1:201330453-201330453 1:201361325-201361325 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.104950del (p.Glu34984fs) deletion Conflicting interpretations of pathogenicity 165639 rs727503533 2:179396392-179396392 2:178531665-178531665 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) SNV Conflicting interpretations of pathogenicity 178157 rs140319117 2:179399071-179399071 2:178534344-178534344 DLT002 Dilated Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.784G>A (p.Glu262Lys) SNV Conflicting interpretations of pathogenicity 178850 rs727504488 1:201330433-201330433 1:201361305-201361305 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.5513G>A (p.Arg1838His) SNV Conflicting interpretations of pathogenicity 161225 rs377715841 6:7583008-7583008 6:7582775-7582775 DLT002 Dilated Cardiomyopathy MYBPC3 NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) SNV Conflicting interpretations of pathogenicity 161306 rs201312636 11:47353755-47353755 11:47332204-47332204 DLT002 Dilated Cardiomyopathy MYBPC3 NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) SNV Conflicting interpretations of pathogenicity 161308 rs371488302 11:47359343-47359343 11:47337792-47337792 DLT002 Dilated Cardiomyopathy MYBPC3 NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) SNV Conflicting interpretations of pathogenicity 161310 rs200119454 11:47367887-47367887 11:47346336-47346336 DLT002 Dilated Cardiomyopathy TSFM NM_005726.6(TSFM):c.856C>T (p.Gln286Ter) SNV Conflicting interpretations of pathogenicity 155718 rs201754030 12:58190244-58190244 12:57796461-57796461 DLT002 Dilated Cardiomyopathy DMD NM_004006.2(DMD):c.1337A>G (p.His446Arg) SNV Conflicting interpretations of pathogenicity 94461 rs72468699 X:32632565-32632565 X:32614448-32614448 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu) SNV Conflicting interpretations of pathogenicity 130666 rs587780488 2:179506964-179506964 2:178642237-178642237 DLT002 Dilated Cardiomyopathy DSC2 NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr) SNV Conflicting interpretations of pathogenicity 155783 rs561310777 18:28659917-28659917 18:31079951-31079951 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.50858-3C>T SNV Conflicting interpretations of pathogenicity 155849 rs587782987 2:179476001-179476001 2:178611274-178611274 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) SNV Conflicting interpretations of pathogenicity 66802 rs150840924 1:156106150-156106150 1:156136359-156136359 DLT002 Dilated Cardiomyopathy SCN5A NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) SNV Conflicting interpretations of pathogenicity 67656 rs199473339 3:38647444-38647444 3:38605953-38605953 DLT002 Dilated Cardiomyopathy SCN5A NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg) SNV Conflicting interpretations of pathogenicity 67769 rs199473182 3:38622706-38622706 3:38581215-38581215 DLT002 Dilated Cardiomyopathy SCN5A NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) SNV Conflicting interpretations of pathogenicity 67833 rs41311127 3:38603991-38603991 3:38562500-38562500 DLT002 Dilated Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp) SNV Conflicting interpretations of pathogenicity 132943 rs483352832 1:201333455-201333455 1:201364327-201364327 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.2765G>A (p.Arg922His) SNV Conflicting interpretations of pathogenicity 96278 rs56046320 2:179648807-179648807 2:178784080-178784080 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg) SNV Conflicting interpretations of pathogenicity 96296 rs181717727 2:179449606-179449606 2:178584879-178584879 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys) SNV Conflicting interpretations of pathogenicity 96298 rs199506676 2:179442329-179442329 2:178577602-178577602 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.83740A>G (p.Thr27914Ala) SNV Conflicting interpretations of pathogenicity 96309 rs188370772 2:179427119-179427119 2:178562392-178562392 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.88708A>G (p.Ile29570Val) SNV Conflicting interpretations of pathogenicity 96313 rs139506970 2:179419366-179419366 2:178554639-178554639 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr) SNV Conflicting interpretations of pathogenicity 96321 rs55660660 2:179406993-179406993 2:178542266-178542266 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.725C>T (p.Ala242Val) SNV Conflicting interpretations of pathogenicity 48076 rs397517906 1:156104681-156104681 1:156134890-156134890 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.357C>T (p.Arg119=) SNV Conflicting interpretations of pathogenicity 48062 rs41313880 1:156100408-156100408 1:156130617-156130617 DLT002 Dilated Cardiomyopathy DES NM_001927.4(DES):c.893C>T (p.Ser298Leu) SNV Conflicting interpretations of pathogenicity 66423 rs62636491 2:220285374-220285374 2:219420652-219420652 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) SNV Conflicting interpretations of pathogenicity 48098 rs59301204 1:156105747-156105747 1:156135956-156135956 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.3(ANKRD1):c.560C>T (p.Ser187Phe) SNV Conflicting interpretations of pathogenicity 45635 rs397517251 10:92676019-92676019 10:90916262-90916262 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) SNV Conflicting interpretations of pathogenicity 45639 rs35550482 10:92675322-92675322 10:90915565-90915565 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.480+3A>G SNV Conflicting interpretations of pathogenicity 45498 rs71578983 10:21169720-21169720 10:20880791-20880791 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.604G>A (p.Gly202Arg) SNV Conflicting interpretations of pathogenicity 45499 rs137973321 10:21157673-21157673 10:20868744-20868744 DLT002 Dilated Cardiomyopathy LDB3 NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro) SNV Conflicting interpretations of pathogenicity 45527 rs138951890 10:88476387-88476387 10:86716630-86716630 DLT002 Dilated Cardiomyopathy VCL NM_014000.3(VCL):c.1555A>C (p.Ile519Leu) SNV Conflicting interpretations of pathogenicity 45582 rs141033098 10:75855425-75855425 10:74095667-74095667 DLT002 Dilated Cardiomyopathy VCL NM_014000.3(VCL):c.2862_2864del (p.Leu955del) deletion Conflicting interpretations of pathogenicity 45602 rs397517237 10:75871782-75871784 10:74112024-74112026 DLT002 Dilated Cardiomyopathy VCL NM_014000.3(VCL):c.3258+10A>T SNV Conflicting interpretations of pathogenicity 45609 rs71579379 10:75874667-75874667 10:74114909-74114909 DLT002 Dilated Cardiomyopathy VCL NM_014000.3(VCL):c.562C>T (p.Arg188Ter) SNV Conflicting interpretations of pathogenicity 45615 rs397517244 10:75832550-75832550 10:74072792-74072792 DLT002 Dilated Cardiomyopathy RBM20 NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) SNV Conflicting interpretations of pathogenicity 43995 rs201370621 10:112581039-112581039 10:110821281-110821281 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.1775C>A (p.Ala592Glu) SNV Conflicting interpretations of pathogenicity 45485 rs146275785 10:21117460-21117460 10:20828531-20828531 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.180G>C (p.Lys60Asn) SNV Conflicting interpretations of pathogenicity 45486 rs41277374 10:21178852-21178852 10:20889923-20889923 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.2080C>T (p.Arg694Trp) SNV Conflicting interpretations of pathogenicity 45491 rs114875104 10:21106597-21106597 10:20817668-20817668 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.5744G>A (p.Arg1915His) SNV Conflicting interpretations of pathogenicity 44931 rs146617683 6:7583239-7583239 6:7583006-7583006 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) SNV Conflicting interpretations of pathogenicity 44926 rs142885240 6:7581641-7581641 6:7581408-7581408 DLT002 Dilated Cardiomyopathy BAG3 NM_004281.4(BAG3):c.249C>A (p.His83Gln) SNV Conflicting interpretations of pathogenicity 44782 rs151331972 10:121429431-121429431 10:119669919-119669919 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) SNV Conflicting interpretations of pathogenicity 44906 rs28763965 6:7580795-7580795 6:7580562-7580562 DLT002 Dilated Cardiomyopathy DSG2 NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro) SNV Conflicting interpretations of pathogenicity 44287 rs199681901 18:29118843-29118843 18:31538880-31538880 DLT002 Dilated Cardiomyopathy GATA4 NM_001308093.3(GATA4):c.825C>T (p.Cys275=) SNV Conflicting interpretations of pathogenicity 44336 rs55980825 8:11607658-11607658 8:11750149-11750149 DLT002 Dilated Cardiomyopathy LAMA4 NM_001105206.3(LAMA4):c.1999G>T (p.Asp667Tyr) SNV Conflicting interpretations of pathogenicity 44357 rs397516720 6:112476110-112476110 6:112154908-112154908 DLT002 Dilated Cardiomyopathy LAMA4 NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys) SNV Conflicting interpretations of pathogenicity 44361 rs146868519 6:112471715-112471715 6:112150513-112150513 DLT002 Dilated Cardiomyopathy CASQ2 NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del) deletion Conflicting interpretations of pathogenicity 44158 rs397516641 1:116243875-116243877 1:115701254-115701256 DLT002 Dilated Cardiomyopathy MYH6 NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln) SNV Conflicting interpretations of pathogenicity 44513 rs199936506 14:23856987-23856987 14:23387778-23387778 DLT002 Dilated Cardiomyopathy MYH6 NM_002471.4(MYH6):c.824T>A (p.Ile275Asn) SNV Conflicting interpretations of pathogenicity 44545 rs201327273 14:23872631-23872631 14:23403422-23403422 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp) SNV Conflicting interpretations of pathogenicity 46904 rs140640738 2:179539812-179539812 2:178675085-178675085 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) SNV Conflicting interpretations of pathogenicity 46910 rs142951505 2:179647533-179647533 2:178782806-178782806 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser) SNV Conflicting interpretations of pathogenicity 46915 rs200992277 2:179523753-179523753 2:178659026-178659026 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.39211+6C>T SNV Conflicting interpretations of pathogenicity 46923 rs187365142 2:179516985-179516985 2:178652258-178652258 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.41610del (p.Val13871fs) deletion Conflicting interpretations of pathogenicity 46947 rs397517565 2:179500441-179500441 2:178635714-178635714 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln) SNV Conflicting interpretations of pathogenicity 45628 rs150797476 10:92679936-92679936 10:90920179-90920179 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.31763-1G>A SNV Conflicting interpretations of pathogenicity 46855 rs202234172 2:179554624-179554624 2:178689897-178689897 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.33501_33503AGA[6] (p.Glu11172dup) short repeat Conflicting interpretations of pathogenicity 46889 rs368327166 2:179544685-179544686 2:178679958-178679959 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr) SNV Conflicting interpretations of pathogenicity 46618 rs72648940 2:179597242-179597242 2:178732515-178732515 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) SNV Conflicting interpretations of pathogenicity 46644 rs72648949 2:179594107-179594107 2:178729380-178729380 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser) SNV Conflicting interpretations of pathogenicity 46646 rs184412722 2:179594059-179594059 2:178729332-178729332 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met) SNV Conflicting interpretations of pathogenicity 46667 rs146627500 2:179591917-179591917 2:178727190-178727190 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.1800+1G>A SNV Conflicting interpretations of pathogenicity 46689 rs397517497 2:179655434-179655434 2:178790707-178790707 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu) SNV Conflicting interpretations of pathogenicity 46721 rs149523263 2:179584831-179584831 2:178720104-178720104 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.25490G>A (p.Arg8497His) SNV Conflicting interpretations of pathogenicity 46759 rs149855485 2:179581971-179581971 2:178717244-178717244 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.27328+5G>A SNV Conflicting interpretations of pathogenicity 46793 rs397517521 2:179577419-179577419 2:178712692-178712692 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.27914G>A (p.Arg9305Gln) SNV Conflicting interpretations of pathogenicity 46803 rs397517527 2:179576049-179576049 2:178711322-178711322 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) SNV Conflicting interpretations of pathogenicity 46832 rs72650011 2:179567340-179567340 2:178702613-178702613 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr) SNV Conflicting interpretations of pathogenicity 47013 rs146181477 2:179482533-179482533 2:178617806-178617806 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr) SNV Conflicting interpretations of pathogenicity 47036 rs55663050 2:179477529-179477529 2:178612802-178612802 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln) SNV Conflicting interpretations of pathogenicity 47010 rs72677233 2:179482763-179482763 2:178618036-178618036 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) SNV Conflicting interpretations of pathogenicity 47066 rs201213901 2:179472662-179472662 2:178607935-178607935 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.53096G>A (p.Arg17699His) SNV Conflicting interpretations of pathogenicity 47070 rs72646808 2:179472319-179472319 2:178607592-178607592 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly) SNV Conflicting interpretations of pathogenicity 47501 rs150430592 2:179416801-179416801 2:178552074-178552074 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr) SNV Conflicting interpretations of pathogenicity 47514 rs148617456 2:179414800-179414800 2:178550073-178550073 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala) SNV Conflicting interpretations of pathogenicity 47525 rs77968867 2:179413816-179413816 2:178549089-178549089 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys) SNV Conflicting interpretations of pathogenicity 47414 rs56264840 2:179428299-179428299 2:178563572-178563572 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) SNV Conflicting interpretations of pathogenicity 47184 rs141213991 2:179641112-179641112 2:178776385-178776385 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.64789G>A (p.Val21597Met) SNV Conflicting interpretations of pathogenicity 47213 rs150661999 2:179449579-179449579 2:178584852-178584852 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.90536G>A (p.Arg30179His) SNV Conflicting interpretations of pathogenicity 47497 rs149567378 2:179417091-179417091 2:178552364-178552364 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe) SNV Conflicting interpretations of pathogenicity 47555 rs191484894 2:179410666-179410666 2:178545939-178545939 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.101891G>A (p.Arg33964His) SNV Conflicting interpretations of pathogenicity 47643 rs55669553 2:179399451-179399451 2:178534724-178534724 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn) SNV Conflicting interpretations of pathogenicity 47645 rs144963736 2:179399239-179399239 2:178534512-178534512 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val) SNV Conflicting interpretations of pathogenicity 47652 rs56347248 2:179398747-179398747 2:178534020-178534020 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter) SNV Conflicting interpretations of pathogenicity 46986 rs397517580 2:179486244-179486244 2:178621517-178621517 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.1106T>C (p.Leu369Pro) SNV Conflicting interpretations of pathogenicity 48028 rs397517886 1:156105861-156105861 1:156136070-156136070 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) SNV Conflicting interpretations of pathogenicity 48035 rs61094188 1:156106048-156106048 1:156136257-156136257 DLT002 Dilated Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.445C>T (p.Arg149Cys) SNV Conflicting interpretations of pathogenicity 43640 rs397516465 1:201333470-201333470 1:201364342-201364342 DLT002 Dilated Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.422G>C (p.Arg141Pro) SNV Conflicting interpretations of pathogenicity 43638 rs397516464 1:201333493-201333493 1:201364365-201364365 DLT002 Dilated Cardiomyopathy MYL2 NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) SNV Conflicting interpretations of pathogenicity 43475 rs143139258 12:111350901-111350901 12:110913097-110913097 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) SNV Conflicting interpretations of pathogenicity 43098 rs45516091 14:23900817-23900817 14:23431608-23431608 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.1700G>A (p.Arg567His) SNV Conflicting interpretations of pathogenicity 42860 rs377491278 14:23896982-23896982 14:23427773-23427773 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.457del (p.His153fs) deletion Conflicting interpretations of pathogenicity 43028 rs397516224 14:23901893-23901893 14:23432684-23432684 DLT002 Dilated Cardiomyopathy TPM1 NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) SNV Conflicting interpretations of pathogenicity 43420 rs397516373 15:63351862-63351862 15:63059663-63059663 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) SNV Conflicting interpretations of pathogenicity 42938 rs45496496 14:23893148-23893148 14:23423939-23423939 DLT002 Dilated Cardiomyopathy MYBPC3 NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) SNV Conflicting interpretations of pathogenicity 42626 rs199865688 11:47359047-47359047 11:47337496-47337496 DLT002 Dilated Cardiomyopathy MYBPC3 NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln) SNV Conflicting interpretations of pathogenicity 42562 rs397515922 11:47363611-47363611 11:47342060-47342060 DLT002 Dilated Cardiomyopathy MYBPC3 NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro) SNV Conflicting interpretations of pathogenicity 42725 rs397516028 11:47354145-47354145 11:47332594-47332594 DLT002 Dilated Cardiomyopathy BRAF NM_004333.6(BRAF):c.83_88GCGCCG[2] (p.28_29GA[2]) short repeat Conflicting interpretations of pathogenicity 40338 rs397507458 7:140624404-140624409 7:140924604-140924609 DLT002 Dilated Cardiomyopathy RAF1 NM_001354689.3(RAF1):c.122G>A (p.Arg41Gln) SNV Conflicting interpretations of pathogenicity 40586 rs145611571 3:12660099-12660099 3:12618600-12618600 DLT002 Dilated Cardiomyopathy MYH6 NM_002471.4(MYH6):c.4651-12A>C SNV Conflicting interpretations of pathogenicity 36630 rs193922653 14:23855844-23855844 14:23386635-23386635 DLT002 Dilated Cardiomyopathy RYR2 NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys) SNV Conflicting interpretations of pathogenicity 36740 rs193922624 1:237729903-237729903 1:237566603-237566603 DLT002 Dilated Cardiomyopathy LDB3 NM_007078.3(LDB3):c.1051A>G (p.Thr351Ala) SNV Conflicting interpretations of pathogenicity 36942 rs138251566 10:88466442-88466442 10:86706685-86706685 DLT002 Dilated Cardiomyopathy SCN5A NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) SNV Conflicting interpretations of pathogenicity 9396 rs45620037 3:38655278-38655278 3:38613787-38613787 DLT002 Dilated Cardiomyopathy ABCC9 NM_020297.3(ABCC9):c.2523C>T (p.Ala841=) SNV Conflicting interpretations of pathogenicity 35628 rs144537241 12:22005422-22005422 12:21852488-21852488 DLT002 Dilated Cardiomyopathy ABCC9 NM_005691.3(ABCC9):c.4450-5del deletion Conflicting interpretations of pathogenicity 35634 rs4148680 12:21958999-21958999 12:21806065-21806065 DLT002 Dilated Cardiomyopathy PSEN1 NM_000021.4(PSEN1):c.998A>G (p.Asp333Gly) SNV Conflicting interpretations of pathogenicity 18156 rs121917809 14:73678519-73678519 14:73211811-73211811 DLT002 Dilated Cardiomyopathy ACTN2 NM_001103.3(ACTN2):c.26A>G (p.Gln9Arg) SNV Conflicting interpretations of pathogenicity 18313 rs121434525 1:236849999-236849999 1:236686699-236686699 DLT002 Dilated Cardiomyopathy BAG3 NM_004281.3(BAG3):c.211C>T (p.Arg71Trp) SNV Conflicting interpretations of pathogenicity 30396 rs387906874 10:121429393-121429393 10:119669881-119669881 DLT002 Dilated Cardiomyopathy MYPN NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) SNV Conflicting interpretations of pathogenicity 31791 rs71534278 10:69959174-69959174 10:68199417-68199417 DLT002 Dilated Cardiomyopathy MYPN NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) SNV Conflicting interpretations of pathogenicity 31811 rs140148105 10:69881254-69881254 10:68121497-68121497 DLT002 Dilated Cardiomyopathy MYPN NM_032578.4(MYPN):c.458A>G (p.Lys153Arg) SNV Conflicting interpretations of pathogenicity 31812 rs199476401 10:69881653-69881653 10:68121896-68121896 DLT002 Dilated Cardiomyopathy MYPN NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) SNV Conflicting interpretations of pathogenicity 31819 rs138313730 10:69959320-69959320 10:68199563-68199563 DLT002 Dilated Cardiomyopathy TMPO NM_001032283.3(TMPO):c.565+2487C>T SNV Conflicting interpretations of pathogenicity 12707 rs17028450 12:98928103-98928103 12:98534325-98534325 DLT002 Dilated Cardiomyopathy VCL NM_014000.2(VCL):c.829C>A (p.Leu277Met) SNV Conflicting interpretations of pathogenicity 12198 rs71579353 10:75842257-75842257 10:74082499-74082499 DLT002 Dilated Cardiomyopathy CSRP3 NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg) SNV Conflicting interpretations of pathogenicity 8776 rs45550635 11:19213986-19213986 11:19192439-19192439 DLT002 Dilated Cardiomyopathy MYH6 NM_002471.4(MYH6):c.3195G>C (p.Gln1065His) SNV Conflicting interpretations of pathogenicity 14149 rs267606904 14:23862177-23862177 14:23392968-23392968 DLT002 Dilated Cardiomyopathy MYH6 NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) SNV Conflicting interpretations of pathogenicity 14151 rs143978652 14:23862646-23862646 14:23393437-23393437 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) SNV Conflicting interpretations of pathogenicity 14527 rs142000963 1:156108510-156108510 1:156138719-156138719 DLT002 Dilated Cardiomyopathy LDB3 NM_007078.3(LDB3):c.690-4823G>A SNV Conflicting interpretations of pathogenicity 4733 rs121908338 10:88446830-88446830 10:86687073-86687073 DLT002 Dilated Cardiomyopathy NEXN NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) SNV Conflicting interpretations of pathogenicity 326 rs137853197 1:78408441-78408441 1:77942756-77942756 DLT002 Dilated Cardiomyopathy TAZ NM_000116.5(TAZ):c.270G>A (p.Leu90=) SNV Conflicting interpretations of pathogenicity 914160 X:153641575-153641575 X:154413238-154413238 DLT002 Dilated Cardiomyopathy SGCG NM_000231.2(SGCG):c.371G>T (p.Gly124Val) SNV Conflicting interpretations of pathogenicity 691731 13:23824842-23824842 13:23250703-23250703 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.45535A>T (p.Lys15179Ter) SNV Conflicting interpretations of pathogenicity 582605 rs1559877046 2:179485910-179485910 2:178621183-178621183 DLT002 Dilated Cardiomyopathy DTNA NM_001390.4(DTNA):c.68-7G>A SNV Conflicting interpretations of pathogenicity 523441 rs372126412 18:32345918-32345918 18:34765954-34765954 DLT002 Dilated Cardiomyopathy DMD NM_004006.2(DMD):c.9352G>T (p.Ala3118Ser) SNV Conflicting interpretations of pathogenicity 520520 rs200928985 X:31241173-31241173 X:31223056-31223056 DLT002 Dilated Cardiomyopathy SCN5A NM_198056.2(SCN5A):c.5795C>T (p.Ala1932Val) SNV Conflicting interpretations of pathogenicity 582721 rs371194826 3:38592068-38592068 3:38550577-38550577 DLT002 Dilated Cardiomyopathy DMD NM_004006.2(DMD):c.7712G>A (p.Arg2571Gln) SNV Conflicting interpretations of pathogenicity 514275 rs371588290 X:31697652-31697652 X:31679535-31679535 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.683C>T (p.Pro228Leu) SNV Conflicting interpretations of pathogenicity 520259 rs201185673 4:186427786-186427786 4:185506632-185506632 DLT002 Dilated Cardiomyopathy FHL2 NM_001318895.3(FHL2):c.392G>A (p.Arg131His) SNV Conflicting interpretations of pathogenicity 506138 rs371421189 2:105984136-105984136 2:105367679-105367679 DLT002 Dilated Cardiomyopathy MYH6 NM_002471.3(MYH6):c.5642A>G (p.Lys1881Arg) SNV Conflicting interpretations of pathogenicity 496160 rs750886219 14:23852453-23852453 14:23383244-23383244 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.1556C>T (p.Thr519Ile) SNV Conflicting interpretations of pathogenicity 499025 rs753988867 1:156106971-156106971 1:156137180-156137180 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.46079T>C (p.Ile15360Thr) SNV Conflicting interpretations of pathogenicity 499602 rs1465320800 2:179485169-179485169 2:178620442-178620442 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.3011A>C (p.Glu1004Ala) SNV Conflicting interpretations of pathogenicity 502141 rs1413214135 2:179647622-179647622 2:178782895-178782895 DLT002 Dilated Cardiomyopathy VCL NM_003373.4(VCL):c.1713del (p.Ala573fs) deletion Conflicting interpretations of pathogenicity 468811 rs779488376 10:75855583-75855583 10:74095825-74095825 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.650C>A (p.Ser217Tyr) SNV Conflicting interpretations of pathogenicity 454286 rs201913959 22:19898912-19898912 22:19911389-19911389 DLT002 Dilated Cardiomyopathy LAMA4 NM_001105206.3(LAMA4):c.3742A>G (p.Ile1248Val) SNV Conflicting interpretations of pathogenicity 488160 rs547323858 6:112454047-112454047 6:112132845-112132845 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.858G>C (p.Arg286Ser) SNV Conflicting interpretations of pathogenicity 414282 rs201503021 22:19883021-19883021 22:19895498-19895498 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.64G>A (p.Val22Met) SNV Conflicting interpretations of pathogenicity 391644 rs370819229 22:19929263-19929263 22:19941740-19941740 DLT002 Dilated Cardiomyopathy KCND3 NM_004980.4(KCND3):c.1354G>A (p.Glu452Lys) SNV Conflicting interpretations of pathogenicity 447626 rs200532657 1:112323329-112323329 1:111780707-111780707 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.42598_42599insG (p.Met14200fs) insertion Conflicting interpretations of pathogenicity 452205 rs1553742630 2:179498627-179498628 2:178633900-178633901 DLT002 Dilated Cardiomyopathy MYBPC3 NM_000256.3(MYBPC3):c.362C>T (p.Pro121Leu) SNV Conflicting interpretations of pathogenicity 450709 rs551888783 11:47372097-47372097 11:47350546-47350546 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1407C>A (p.Asn469Lys) SNV Conflicting interpretations of pathogenicity 451313 rs200063300 22:19865651-19865651 22:19878128-19878128 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1016A>T (p.Gln339Leu) SNV Conflicting interpretations of pathogenicity 449798 rs200606822 22:19870918-19870918 22:19883395-19883395 DLT002 Dilated Cardiomyopathy TAZ NM_000116.5(TAZ):c.761C>T (p.Ala254Val) SNV Conflicting interpretations of pathogenicity 451312 rs200909606 X:153649058-153649058 X:154420719-154420719 DLT002 Dilated Cardiomyopathy MYH6 NM_002471.4(MYH6):c.1108C>T (p.Arg370Trp) SNV Conflicting interpretations of pathogenicity 418705 rs753444140 14:23871706-23871706 14:23402497-23402497 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-45376T>C SNV Conflicting interpretations of pathogenicity 426159 rs141285752 10:21147245-21147245 10:20858316-20858316 DLT002 Dilated Cardiomyopathy RBM20 NM_001134363.3(RBM20):c.3616G>A (p.Glu1206Lys) SNV Uncertain significance 418455 rs757389650 10:112595668-112595668 10:110835910-110835910 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-32313G>A SNV Uncertain significance 423353 rs370026081 10:21134182-21134182 10:20845253-20845253 DLT002 Dilated Cardiomyopathy JPH2 NM_020433.4(JPH2):c.278G>A (p.Arg93His) SNV Uncertain significance 431015 rs1131692244 20:42815068-42815068 20:44186428-44186428 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.259G>A (p.Val87Ile) SNV Uncertain significance 432228 rs201658653 22:19906498-19906498 22:19918975-19918975 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.11T>C (p.Met4Thr) SNV Uncertain significance 432854 rs1429174414 22:19929316-19929316 22:19941793-19941793 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-6542C>T SNV Uncertain significance 450413 rs771905060 10:21108411-21108411 10:20819482-20819482 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-46772G>A SNV Uncertain significance 452838 rs746179839 10:21148641-21148641 10:20859712-20859712 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-6527C>T SNV Uncertain significance 412262 rs770107953 10:21108396-21108396 10:20819467-20819467 DLT002 Dilated Cardiomyopathy FHL2 NM_201555.2(FHL2):c.183G>T (p.Trp61Cys) SNV Uncertain significance 454291 rs772913386 2:105990164-105990164 2:105373707-105373707 DLT002 Dilated Cardiomyopathy FHL2 NM_201555.2(FHL2):c.121G>A (p.Glu41Lys) SNV Uncertain significance 454290 rs552625336 2:106002853-106002853 2:105386396-105386396 DLT002 Dilated Cardiomyopathy FHL2 NM_201555.2(FHL2):c.430A>G (p.Lys144Glu) SNV Uncertain significance 454294 rs770284685 2:105984098-105984098 2:105367641-105367641 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.529+4245C>T SNV Uncertain significance 454272 rs143149169 10:21097453-21097453 10:20808524-20808524 DLT002 Dilated Cardiomyopathy PDLIM3 NC_000004.11:g.(?_186064507)_(186436064_?)dup duplication Uncertain significance 454473 4:186064507-186436064 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.547G>C (p.Val183Leu) SNV Uncertain significance 454478 rs765318874 4:186429568-186429568 4:185508414-185508414 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.1072G>A (p.Val358Ile) SNV Uncertain significance 454474 rs1554037057 4:186423471-186423471 4:185502317-185502317 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.141T>A (p.Asp47Glu) SNV Uncertain significance 454475 rs778943215 4:186446278-186446278 4:185525124-185525124 DLT002 Dilated Cardiomyopathy SCN4B NM_174934.3(SCN4B):c.271C>A (p.Pro91Thr) SNV Uncertain significance 397545 rs113659925 11:118014740-118014740 11:118144025-118144025 DLT002 Dilated Cardiomyopathy CACNA1C NM_000719.7(CACNA1C):c.5717G>A (p.Arg1906Gln) SNV Uncertain significance 402467 rs758166168 12:2795368-2795368 12:2686202-2686202 DLT002 Dilated Cardiomyopathy ACTN2 NM_001103.3(ACTN2):c.2423C>T (p.Thr808Ile) SNV Uncertain significance 412276 rs148833906 1:236924370-236924370 1:236761070-236761070 DLT002 Dilated Cardiomyopathy FHL2 NM_201555.2(FHL2):c.374C>A (p.Thr125Asn) SNV Uncertain significance 410316 rs773356788 2:105984154-105984154 2:105367697-105367697 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.530A>C (p.Glu177Ala) SNV Uncertain significance 405204 rs138115202 4:186429585-186429585 4:185508431-185508431 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.992G>T (p.Gly331Val) SNV Uncertain significance 405205 rs1060500600 4:186423551-186423551 4:185502397-185502397 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-4704C>T SNV Uncertain significance 412259 rs780795108 10:21106573-21106573 10:20817644-20817644 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-6495C>T SNV Uncertain significance 412256 rs763512999 10:21108364-21108364 10:20819435-20819435 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-6498G>A SNV Uncertain significance 412255 rs1060503679 10:21108367-21108367 10:20819438-20819438 DLT002 Dilated Cardiomyopathy BAG3 NM_004281.3(BAG3):c.507G>C (p.Glu169Asp) SNV Uncertain significance 410227 rs1060502812 10:121429689-121429689 10:119670177-119670177 DLT002 Dilated Cardiomyopathy BAG3 NM_004281.3(BAG3):c.549_551CTC[1] (p.Ser185del) short repeat Uncertain significance 410240 rs763170019 10:121431806-121431808 10:119672294-119672296 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.402T>G (p.Phe134Leu) SNV Uncertain significance 412260 rs1060503681 10:21101825-21101825 10:20812896-20812896 DLT002 Dilated Cardiomyopathy LDB3 NM_007078.3(LDB3):c.1253C>G (p.Pro418Arg) SNV Uncertain significance 406810 rs141870580 10:88476105-88476105 10:86716348-86716348 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-15670A>C SNV Uncertain significance 412258 rs1060503680 10:21117539-21117539 10:20828610-20828610 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-45331A>G SNV Uncertain significance 412261 rs147853594 10:21147200-21147200 10:20858271-20858271 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-1058C>G SNV Uncertain significance 412257 rs768389033 10:21102927-21102927 10:20813998-20813998 DLT002 Dilated Cardiomyopathy MYBPC3 NM_000256.3(MYBPC3):c.956A>C (p.Glu319Ala) SNV Uncertain significance 407317 rs545675333 11:47367892-47367892 11:47346341-47346341 DLT002 Dilated Cardiomyopathy DSG2 NM_001943.5(DSG2):c.2328C>A (p.Phe776Leu) SNV Uncertain significance 410374 rs771104668 18:29122809-29122809 18:31542846-31542846 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.52C>T (p.Arg18Trp) SNV Uncertain significance 407093 rs1060501404 22:19929275-19929275 22:19941752-19941752 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.845C>T (p.Ser282Leu) SNV Uncertain significance 407097 rs368200536 22:19883034-19883034 22:19895511-19895511 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.77T>G (p.Val26Gly) SNV Uncertain significance 407094 rs925920723 22:19929250-19929250 22:19941727-19941727 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.662+6G>A SNV Uncertain significance 407092 rs887858049 22:19898894-19898894 22:19911371-19911371 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.375-7T>G SNV Uncertain significance 407095 rs1060501405 22:19905747-19905747 22:19918224-19918224 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.860T>G (p.Leu287Arg) SNV Uncertain significance 407096 rs989125451 22:19883019-19883019 22:19895496-19895496 DLT002 Dilated Cardiomyopathy SCN5A NM_198056.2(SCN5A):c.5103G>T (p.Met1701Ile) SNV Uncertain significance 427788 rs769843988 3:38592760-38592760 3:38551269-38551269 DLT002 Dilated Cardiomyopathy NEDD4L NM_001144967.3(NEDD4L):c.1333C>T (p.Arg445Cys) SNV Uncertain significance 427786 rs1131690797 18:56008985-56008985 18:58341753-58341753 DLT002 Dilated Cardiomyopathy GSK3A NM_019884.3(GSK3A):c.146G>C (p.Gly49Ala) SNV Uncertain significance 427787 rs1131690798 19:42746472-42746472 19:42242320-42242320 DLT002 Dilated Cardiomyopathy TMPO NM_003276.2(TMPO):c.370C>T (p.Leu124Phe) SNV Uncertain significance 427956 rs375619307 12:98921754-98921754 12:98527976-98527976 DLT002 Dilated Cardiomyopathy AKAP9 NM_005751.4(AKAP9):c.2478A>G (p.Ile826Met) SNV Uncertain significance 427976 rs777349648 7:91631709-91631709 7:92002395-92002395 DLT002 Dilated Cardiomyopathy CACNB2 NM_201596.3(CACNB2):c.1276G>A (p.Ala426Thr) SNV Uncertain significance 427977 rs1336353571 10:18825099-18825099 10:18536170-18536170 DLT002 Dilated Cardiomyopathy SCN2B NM_004588.5(SCN2B):c.332C>T (p.Ser111Leu) SNV Uncertain significance 427979 rs868793059 11:118038916-118038916 11:118168201-118168201 DLT002 Dilated Cardiomyopathy KCNE2 NM_172201.1(KCNE2):c.285G>T (p.Lys95Asn) SNV Uncertain significance 427978 rs1555837113 21:35743062-35743062 21:34370763-34370763 DLT002 Dilated Cardiomyopathy FLNC NM_001458.4(FLNC):c.4566G>T (p.Gln1522His) SNV Uncertain significance 488164 rs559667295 7:128488108-128488108 7:128848054-128848054 DLT002 Dilated Cardiomyopathy TMPO NM_003276.2(TMPO):c.746G>C (p.Gly249Ala) SNV Uncertain significance 488169 rs191275106 12:98926781-98926781 12:98533003-98533003 DLT002 Dilated Cardiomyopathy FKRP NM_024301.5(FKRP):c.128C>G (p.Ser43Cys) SNV Uncertain significance 488159 rs1555738085 19:47258835-47258835 19:46755578-46755578 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1436T>C (p.Leu479Pro) SNV Uncertain significance 454280 rs756559860 22:19865622-19865622 22:19878099-19878099 DLT002 Dilated Cardiomyopathy TXNRD2 NC_000022.11:g.(?_19931010)_(19941823_?)del deletion Uncertain significance 454260 22:19918533-19929346 22:19931010-19941823 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.199G>A (p.Val67Met) SNV Uncertain significance 454282 rs372803804 22:19907096-19907096 22:19919573-19919573 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.589C>G (p.His197Asp) SNV Uncertain significance 454285 rs762695606 22:19902739-19902739 22:19915216-19915216 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.221C>G (p.Ser74Cys) SNV Uncertain significance 454284 rs200942544 22:19907074-19907074 22:19919551-19919551 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-55738A>G SNV Uncertain significance 454276 rs148079637 10:21157607-21157607 10:20868678-20868678 DLT002 Dilated Cardiomyopathy LDB3 NM_007078.3(LDB3):c.1703G>A (p.Arg568His) SNV Uncertain significance 464286 rs769156627 10:88477747-88477747 10:86717990-86717990 DLT002 Dilated Cardiomyopathy PKP2 NM_004572.3(PKP2):c.2200A>G (p.Thr734Ala) SNV Uncertain significance 464422 rs867374780 12:32955436-32955436 12:32802502-32802502 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1054C>A (p.Pro352Thr) SNV Uncertain significance 454279 rs1388529732 22:19870880-19870880 22:19883357-19883357 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.533T>C (p.Met178Thr) SNV Uncertain significance 454477 rs566270712 4:186429582-186429582 4:185508428-185508428 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.357+71811G>A SNV Uncertain significance 454269 rs1442801795 10:21178790-21178790 10:20889861-20889861 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-56859G>A SNV Uncertain significance 454274 rs71541562 10:21158728-21158728 10:20869799-20869799 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.357+71811G>C SNV Uncertain significance 454270 rs1442801795 10:21178790-21178790 10:20889861-20889861 DLT002 Dilated Cardiomyopathy NEBL NC_000010.11:g.(?_20840719)_(20840869_?)del deletion Uncertain significance 454259 10:21129648-21129798 10:20840719-20840869 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-37483C>T SNV Uncertain significance 454261 rs747086170 10:21139352-21139352 10:20850423-20850423 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.412G>A (p.Val138Met) SNV Uncertain significance 454268 rs772136984 10:21101815-21101815 10:20812886-20812886 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-15697T>C SNV Uncertain significance 454264 rs1554779376 10:21117566-21117566 10:20828637-20828637 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-18552C>T SNV Uncertain significance 454262 rs1256153819 10:21120421-21120421 10:20831492-20831492 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-46856A>G SNV Uncertain significance 454277 rs1037792824 10:21148725-21148725 10:20859796-20859796 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.357+64468T>C SNV Uncertain significance 488779 rs972622200 10:21186133-21186133 10:20897204-20897204 DLT002 Dilated Cardiomyopathy CACNA1C NM_000719.7(CACNA1C):c.1582T>G (p.Trp528Gly) SNV Uncertain significance 492985 rs755846732 12:2675661-2675661 12:2566495-2566495 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.8117A>T (p.Lys2706Met) SNV Uncertain significance 496250 rs537588390 6:7585612-7585612 6:7585379-7585379 DLT002 Dilated Cardiomyopathy FHL2 NM_001318895.3(FHL2):c.62T>A (p.Leu21Gln) SNV Uncertain significance 504936 rs755805016 2:106002912-106002912 2:105386455-105386455 DLT002 Dilated Cardiomyopathy RBM20 NM_001134363.3(RBM20):c.686A>G (p.Tyr229Cys) SNV Uncertain significance 519171 rs1478721868 10:112541053-112541053 10:110781295-110781295 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-45377A>G SNV Uncertain significance 520252 rs1373986579 10:21147246-21147246 10:20858317-20858317 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-46780C>T SNV Uncertain significance 520230 rs548922223 10:21148649-21148649 10:20859720-20859720 DLT002 Dilated Cardiomyopathy LDB3 NM_007078.3(LDB3):c.690-4739G>A SNV Uncertain significance 518946 rs376489385 10:88446914-88446914 10:86687157-86687157 DLT002 Dilated Cardiomyopathy CSRP3 NM_003476.5(CSRP3):c.233G>T (p.Gly78Val) SNV Uncertain significance 518500 rs963128995 11:19209731-19209731 11:19188184-19188184 DLT002 Dilated Cardiomyopathy ABCC9 NM_005691.3(ABCC9):c.2190C>A (p.His730Gln) SNV Uncertain significance 518779 rs771887289 12:22025567-22025567 12:21872633-21872633 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.869G>T (p.Gly290Val) SNV Uncertain significance 518783 rs543290126 22:19883010-19883010 22:19895487-19895487 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.113G>A (p.Arg38Gln) SNV Uncertain significance 519142 rs777384922 22:19918612-19918612 22:19931089-19931089 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.334G>A (p.Glu112Lys) SNV Uncertain significance 520446 rs1553262031 1:156085043-156085043 1:156115252-156115252 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.1033G>A (p.Ala345Thr) SNV Uncertain significance 579350 rs373408599 4:186423510-186423510 4:185502356-185502356 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.938G>A (p.Arg313Gln) SNV Uncertain significance 577170 rs755255012 4:186423605-186423605 4:185502451-185502451 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.657G>T (p.Leu219Phe) SNV Uncertain significance 575173 rs1561192175 4:186429458-186429458 4:185508304-185508304 DLT002 Dilated Cardiomyopathy PDLIM3 NC_000004.11:g.(?_186423428)_(186456608_?)dup duplication Uncertain significance 584088 4:186423428-186456608 4:185502274-185535454 DLT002 Dilated Cardiomyopathy RBM20 NM_001134363.3(RBM20):c.1898C>T (p.Pro633Leu) SNV Uncertain significance 572099 rs747880281 10:112572053-112572053 10:110812295-110812295 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.794A>G (p.Asp265Gly) SNV Uncertain significance 573734 rs750061720 4:186425740-186425740 4:185504586-185504586 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.609G>A (p.Met203Ile) SNV Uncertain significance 579874 rs745574506 10:21076158-21076158 10:20787229-20787229 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.529+4235G>A SNV Uncertain significance 576459 rs1564341986 10:21097463-21097463 10:20808534-20808534 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.376T>A (p.Phe126Ile) SNV Uncertain significance 579281 rs1564345984 10:21101851-21101851 10:20812922-20812922 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-18252G>A SNV Uncertain significance 582826 rs528164655 10:21120121-21120121 10:20831192-20831192 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-32338A>G SNV Uncertain significance 578205 rs200534792 10:21134207-21134207 10:20845278-20845278 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-56873C>T SNV Uncertain significance 581424 rs1564404256 10:21158742-21158742 10:20869813-20869813 DLT002 Dilated Cardiomyopathy MYPN NM_032578.4(MYPN):c.259C>G (p.Pro87Ala) SNV Uncertain significance 573255 rs376945733 10:69881454-69881454 10:68121697-68121697 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.529+4238A>T SNV Uncertain significance 573400 rs1369499702 10:21097460-21097460 10:20808531-20808531 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.529+4143G>A SNV Uncertain significance 574226 rs758877499 10:21097555-21097555 10:20808626-20808626 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-1001A>G SNV Uncertain significance 570332 rs200574474 10:21102870-21102870 10:20813941-20813941 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-2771T>G SNV Uncertain significance 571999 rs1427758049 10:21104640-21104640 10:20815711-20815711 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-10324A>G SNV Uncertain significance 575182 rs1564356559 10:21112193-21112193 10:20823264-20823264 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-39709C>T SNV Uncertain significance 580927 rs149737043 10:21141578-21141578 10:20852649-20852649 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.529+4143G>T SNV Uncertain significance 568604 rs758877499 10:21097555-21097555 10:20808626-20808626 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-1022del deletion Uncertain significance 577817 rs776502857 10:21102891-21102891 10:20813962-20813962 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-22621C>G SNV Uncertain significance 583115 rs769479569 10:21124490-21124490 10:20835561-20835561 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-45346T>A SNV Uncertain significance 578657 rs752717041 10:21147215-21147215 10:20858286-20858286 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-56847C>T SNV Uncertain significance 569179 rs370153729 10:21158716-21158716 10:20869787-20869787 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1266G>C (p.Glu422Asp) SNV Uncertain significance 575847 rs1569070557 22:19867711-19867711 22:19880188-19880188 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1011C>A (p.Asp337Glu) SNV Uncertain significance 569023 rs1569073275 22:19870923-19870923 22:19883400-19883400 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.704G>C (p.Gly235Ala) SNV Uncertain significance 579546 rs1259831281 22:19885632-19885632 22:19898109-19898109 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1183-10_1183-7del deletion Uncertain significance 566402 rs1569070709 22:19867801-19867804 22:19880278-19880281 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.834C>G (p.Gly278=) SNV Uncertain significance 575087 rs371075332 22:19883045-19883045 22:19895522-19895522 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.611A>G (p.Tyr204Cys) SNV Uncertain significance 571531 rs199765650 22:19898951-19898951 22:19911428-19911428 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.214G>A (p.Glu72Lys) SNV Uncertain significance 570724 rs779740988 22:19907081-19907081 22:19919558-19919558 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1091G>A (p.Arg364Gln) SNV Uncertain significance 572761 rs199734322 22:19868236-19868236 22:19880713-19880713 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.662+1G>A SNV Uncertain significance 572124 rs1317400468 22:19898899-19898899 22:19911376-19911376 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1412G>A (p.Gly471Asp) SNV Uncertain significance 581928 rs754916024 22:19865646-19865646 22:19878123-19878123 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.821G>A (p.Arg274Gln) SNV Uncertain significance 573013 rs374364917 22:19883058-19883058 22:19895535-19895535 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.88G>T (p.Ala30Ser) SNV Uncertain significance 577326 rs1315091228 22:19929239-19929239 22:19941716-19941716 DLT002 Dilated Cardiomyopathy RYR2 NM_001035.3(RYR2):c.9698A>G (p.His3233Arg) SNV Uncertain significance 518481 rs1386204884 1:237870366-237870366 1:237707066-237707066 DLT002 Dilated Cardiomyopathy JUP NM_002230.4(JUP):c.1622A>T (p.His541Leu) SNV Uncertain significance 520526 rs782449369 17:39914998-39914998 17:41758746-41758746 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.5746C>T (p.Gln1916Ter) SNV Uncertain significance 523340 rs1555335933 14:23883012-23883012 14:23413803-23413803 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.249G>A (p.Met83Ile) SNV Uncertain significance 520443 rs1426930663 6:7556029-7556029 6:7555796-7555796 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.1357C>T (p.Pro453Ser) SNV Uncertain significance 520441 rs1554106845 6:7568760-7568760 6:7568527-7568527 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.6956G>A (p.Gly2319Asp) SNV Uncertain significance 520440 rs762943687 6:7584451-7584451 6:7584218-7584218 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.8309A>G (p.Tyr2770Cys) SNV Uncertain significance 520442 rs371020228 6:7585804-7585804 6:7585571-7585571 DLT002 Dilated Cardiomyopathy RBM20 NM_001134363.3(RBM20):c.3452G>C (p.Gly1151Ala) SNV Uncertain significance 520538 rs1185476843 10:112590819-112590819 10:110831061-110831061 DLT002 Dilated Cardiomyopathy MYBPC3 NM_000256.3(MYBPC3):c.3326C>A (p.Thr1109Asn) SNV Uncertain significance 520450 rs397516016 11:47354749-47354749 11:47333198-47333198 DLT002 Dilated Cardiomyopathy ABCC9 NM_005691.3(ABCC9):c.1859G>A (p.Arg620Gln) SNV Uncertain significance 520507 rs139539832 12:22040812-22040812 12:21887878-21887878 DLT002 Dilated Cardiomyopathy ABCC9 NM_005691.3(ABCC9):c.337G>A (p.Val113Ile) SNV Uncertain significance 520506 rs200723629 12:22078945-22078945 12:21926011-21926011 DLT002 Dilated Cardiomyopathy VCL NM_003373.4(VCL):c.2035G>T (p.Ala679Ser) SNV Uncertain significance 523618 rs375392559 10:75863590-75863590 10:74103832-74103832 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.611T>A (p.Leu204Gln) SNV Uncertain significance 523699 rs1553265180 1:156104291-156104291 1:156134500-156134500 DLT002 Dilated Cardiomyopathy SCN5A NM_198056.2(SCN5A):c.4168A>G (p.Thr1390Ala) SNV Uncertain significance 523696 rs1553695261 3:38601715-38601715 3:38560224-38560224 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.3634C>T (p.Arg1212Trp) SNV Uncertain significance 523704 rs1555337102 14:23889146-23889146 14:23419937-23419937 DLT002 Dilated Cardiomyopathy FHL2 NM_201555.2(FHL2):c.130G>A (p.Gly44Arg) SNV Uncertain significance 524918 rs780938900 2:106002844-106002844 2:105386387-105386387 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.836C>A (p.Thr279Lys) SNV Uncertain significance 525141 rs150070443 4:186425698-186425698 4:185504544-185504544 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.779T>G (p.Val260Gly) SNV Uncertain significance 525142 rs1554037747 4:186427690-186427690 4:185506536-185506536 DLT002 Dilated Cardiomyopathy PDLIM3 NC_000004.12:g.(?_185143353)_(185535454_?)del deletion Uncertain significance 525144 4:186064507-186456608 4:185143353-185535454 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.847G>A (p.Gly283Ser) SNV Uncertain significance 525140 rs779988849 4:186425687-186425687 4:185504533-185504533 DLT002 Dilated Cardiomyopathy NEBL NC_000010.11:g.(?_20828510)_(20828654_?)del deletion Uncertain significance 524936 10:21117439-21117583 10:20828510-20828654 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-10302del deletion Uncertain significance 524926 rs754334553 10:21112171-21112171 10:20823242-20823242 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-39610A>C SNV Uncertain significance 524922 rs771769135 10:21141479-21141479 10:20852550-20852550 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.529+2885C>T SNV Uncertain significance 524923 rs776914197 10:21098813-21098813 10:20809884-20809884 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1142G>A (p.Arg381Gln) SNV Uncertain significance 524919 rs774909194 22:19868185-19868185 22:19880662-19880662 DLT002 Dilated Cardiomyopathy FHL2 NM_201555.2(FHL2):c.521T>C (p.Val174Ala) SNV Uncertain significance 580914 rs144442113 2:105979909-105979909 2:105363452-105363452 DLT002 Dilated Cardiomyopathy FHL2 NM_201555.2(FHL2):c.509C>T (p.Thr170Ile) SNV Uncertain significance 568386 rs750539692 2:105979921-105979921 2:105363464-105363464 DLT002 Dilated Cardiomyopathy FHL2 NM_201555.2(FHL2):c.610G>A (p.Asp204Asn) SNV Uncertain significance 582730 rs906250700 2:105979820-105979820 2:105363363-105363363 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-27879A>G SNV Uncertain significance 524920 rs761905318 10:21129748-21129748 10:20840819-20840819 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.357+73465G>A SNV Uncertain significance 524924 rs368856187 10:21177136-21177136 10:20888207-20888207 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1030G>T (p.Asp344Tyr) SNV Uncertain significance 524921 rs373839226 22:19870904-19870904 22:19883381-19883381 DLT002 Dilated Cardiomyopathy TXNRD2 NC_000022.11:g.(?_19911357)_(19911467_?)del deletion Uncertain significance 524937 22:19898880-19898990 22:19911357-19911467 DLT002 Dilated Cardiomyopathy TXNRD2 NC_000022.10:g.(?_19743473)_(19929346_?)dup duplication Uncertain significance 524935 22:19743473-19929346 22:19755950-19941823 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1234G>A (p.Glu412Lys) SNV Uncertain significance 524925 rs781432469 22:19867743-19867743 22:19880220-19880220 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.868G>A (p.Gly290Ser) SNV Uncertain significance 546478 rs777357363 22:19883011-19883011 22:19895488-19895488 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.1024G>A (p.Glu342Lys) SNV Uncertain significance 642803 4:186423519-186423519 4:185502365-185502365 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.955G>A (p.Val319Met) SNV Uncertain significance 640817 4:186423588-186423588 4:185502434-185502434 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.890G>A (p.Cys297Tyr) SNV Uncertain significance 659322 4:186425644-186425644 4:185504490-185504490 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.749C>T (p.Ser250Leu) SNV Uncertain significance 663047 4:186427720-186427720 4:185506566-185506566 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.727G>A (p.Glu243Lys) SNV Uncertain significance 646798 4:186427742-186427742 4:185506588-185506588 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.439C>T (p.Arg147Cys) SNV Uncertain significance 643629 4:186429676-186429676 4:185508522-185508522 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.160G>A (p.Gly54Ser) SNV Uncertain significance 641760 4:186446259-186446259 4:185525105-185525105 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.8A>G (p.Gln3Arg) SNV Uncertain significance 664389 4:186456581-186456581 4:185535427-185535427 DLT002 Dilated Cardiomyopathy FHL2 NM_201555.2(FHL2):c.739G>A (p.Asp247Asn) SNV Uncertain significance 640564 2:105977841-105977841 2:105361384-105361384 DLT002 Dilated Cardiomyopathy FHL2 NM_201555.2(FHL2):c.550G>A (p.Glu184Lys) SNV Uncertain significance 643129 2:105979880-105979880 2:105363423-105363423 DLT002 Dilated Cardiomyopathy FHL2 NM_201555.2(FHL2):c.533A>C (p.Glu178Ala) SNV Uncertain significance 660869 2:105979897-105979897 2:105363440-105363440 DLT002 Dilated Cardiomyopathy FHL2 NM_201555.2(FHL2):c.406A>G (p.Ile136Val) SNV Uncertain significance 651965 2:105984122-105984122 2:105367665-105367665 DLT002 Dilated Cardiomyopathy FHL2 NM_201555.2(FHL2):c.274T>C (p.Cys92Arg) SNV Uncertain significance 653636 2:105990073-105990073 2:105373616-105373616 DLT002 Dilated Cardiomyopathy FHL2 NM_201555.2(FHL2):c.104T>G (p.Leu35Arg) SNV Uncertain significance 641159 2:106002870-106002870 2:105386413-105386413 DLT002 Dilated Cardiomyopathy FHL2 NM_201555.2(FHL2):c.142G>A (p.Gly48Ser) SNV Uncertain significance 626637 rs777846521 2:106002832-106002832 2:105386375-105386375 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.8477G>A (p.Arg2826His) SNV Uncertain significance 629485 rs548754771 6:7585972-7585972 6:7585739-7585739 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.673G>T (p.Asp225Tyr) SNV Uncertain significance 640695 10:21074816-21074816 10:20785887-20785887 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-10297G>A SNV Uncertain significance 656141 10:21112166-21112166 10:20823237-20823237 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-15689G>T SNV Uncertain significance 654343 10:21117558-21117558 10:20828629-20828629 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-18260G>C SNV Uncertain significance 655802 10:21120129-21120129 10:20831200-20831200 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-18330G>A SNV Uncertain significance 648837 10:21120199-21120199 10:20831270-20831270 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-27858C>T SNV Uncertain significance 659047 10:21129727-21129727 10:20840798-20840798 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-32337T>C SNV Uncertain significance 645418 10:21134206-21134206 10:20845277-20845277 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-37534del deletion Uncertain significance 665593 10:21139403-21139403 10:20850474-20850474 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-45342_358-45340del short repeat Uncertain significance 651041 10:21147209-21147211 10:20858280-20858282 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-45396C>G SNV Uncertain significance 655422 10:21147265-21147265 10:20858336-20858336 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-46862A>G SNV Uncertain significance 655536 10:21148731-21148731 10:20859802-20859802 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.357+73546G>T SNV Uncertain significance 647747 10:21177055-21177055 10:20888126-20888126 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.357+71810G>A SNV Uncertain significance 657308 10:21178791-21178791 10:20889862-20889862 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.357+71787T>C SNV Uncertain significance 663788 10:21178814-21178814 10:20889885-20889885 DLT002 Dilated Cardiomyopathy MYPN NM_032578.4(MYPN):c.2150C>T (p.Thr717Met) SNV Uncertain significance 664841 10:69933999-69933999 10:68174242-68174242 DLT002 Dilated Cardiomyopathy MYPN NM_032578.4(MYPN):c.2540G>T (p.Gly847Val) SNV Uncertain significance 659807 rs181848049 10:69934389-69934389 10:68174632-68174632 DLT002 Dilated Cardiomyopathy LDB3 NM_007078.3(LDB3):c.1696A>G (p.Met566Val) SNV Uncertain significance 646981 rs775232208 10:88477740-88477740 10:86717983-86717983 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1465C>T (p.Gln489Ter) SNV Uncertain significance 663710 22:19864738-19864738 22:19877215-19877215 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1453G>T (p.Ala485Ser) SNV Uncertain significance 650181 22:19864750-19864750 22:19877227-19877227 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1414G>A (p.Glu472Lys) SNV Uncertain significance 641801 22:19865644-19865644 22:19878121-19878121 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1407C>G (p.Asn469Lys) SNV Uncertain significance 644032 22:19865651-19865651 22:19878128-19878128 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1037G>A (p.Arg346Gln) SNV Uncertain significance 647175 22:19870897-19870897 22:19883374-19883374 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.974T>C (p.Leu325Pro) SNV Uncertain significance 649939 22:19870960-19870960 22:19883437-19883437 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.746G>A (p.Arg249His) SNV Uncertain significance 642745 22:19885590-19885590 22:19898067-19898067 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.380A>G (p.Lys127Arg) SNV Uncertain significance 657342 22:19905735-19905735 22:19918212-19918212 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.338A>G (p.Tyr113Cys) SNV Uncertain significance 654863 22:19906419-19906419 22:19918896-19918896 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.238T>C (p.Trp80Arg) SNV Uncertain significance 650248 22:19906519-19906519 22:19918996-19918996 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.172G>A (p.Ala58Thr) SNV Uncertain significance 658651 22:19918553-19918553 22:19931030-19931030 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.90_101dup (p.27_30RGAA[3]) duplication Uncertain significance 650091 22:19929225-19929226 22:19941702-19941703 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.64G>T (p.Val22Leu) SNV Uncertain significance 661333 22:19929263-19929263 22:19941740-19941740 DLT002 Dilated Cardiomyopathy PDLIM3 NC_000004.12:g.(?_185502274)_(185506672_?)del deletion Uncertain significance 639882 4:186423428-186427826 4:185502274-185506672 DLT002 Dilated Cardiomyopathy PDLIM3 NC_000004.12:g.(?_185523352)_(185535568_?)del deletion Uncertain significance 651251 4:186444506-186456722 4:185523352-185535568 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-27912T>C SNV Uncertain significance 643684 10:21129781-21129781 10:20840852-20840852 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-45298del deletion Uncertain significance 656406 10:21147167-21147167 10:20858238-20858238 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.357+73458C>G SNV Uncertain significance 648820 10:21177143-21177143 10:20888214-20888214 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.172+3A>G SNV Uncertain significance 646057 22:19918550-19918550 22:19931027-19931027 DLT002 Dilated Cardiomyopathy TXNRD2 NC_000022.10:g.(?_19864618)_(19929336_?)dup duplication Uncertain significance 640448 22:19864618-19929336 22:19877095-19941813 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.591+1G>C SNV Uncertain significance 666196 22:19902736-19902736 22:19915213-19915213 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.*722T>C SNV Uncertain significance 684833 1:156109619-156109619 1:156139828-156139828 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.3764G>A (p.Arg1255Lys) SNV Uncertain significance 684783 rs777407386 6:7580187-7580187 6:7579954-7579954 DLT002 Dilated Cardiomyopathy RBM20 NM_001134363.3(RBM20):c.3245T>C (p.Leu1082Pro) SNV Uncertain significance 684848 10:112581622-112581622 10:110821864-110821864 DLT002 Dilated Cardiomyopathy ACTN2 NM_001103.3(ACTN2):c.2596A>T (p.Met866Leu) SNV Uncertain significance 684853 1:236925830-236925830 1:236762530-236762530 DLT002 Dilated Cardiomyopathy NEXN NM_144573.3(NEXN):c.1123G>T (p.Glu375Ter) SNV Uncertain significance 684839 1:78399036-78399036 1:77933351-77933351 DLT002 Dilated Cardiomyopathy SGCD NM_000337.5(SGCD):c.25C>T (p.His9Tyr) SNV Uncertain significance 684822 5:155771520-155771520 5:156344510-156344510 DLT002 Dilated Cardiomyopathy MYPN NM_032578.3(MYPN):c.109C>T (p.Pro37Ser) SNV Uncertain significance 684860 10:69881304-69881304 10:68121547-68121547 DLT002 Dilated Cardiomyopathy MYPN NM_032578.3(MYPN):c.1859C>G (p.Thr620Ser) SNV Uncertain significance 684786 10:69926309-69926309 10:68166552-68166552 DLT002 Dilated Cardiomyopathy VCL NM_014000.3(VCL):c.2935A>G (p.Lys979Glu) SNV Uncertain significance 684821 10:75871856-75871856 10:74112098-74112098 DLT002 Dilated Cardiomyopathy MYH6 NM_002471.3(MYH6):c.2500C>T (p.Leu834Phe) SNV Uncertain significance 684844 14:23863462-23863462 14:23394253-23394253 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.936C>A (p.Phe312Leu) SNV Uncertain significance 684823 rs771522982 14:23899832-23899832 14:23430623-23430623 DLT002 Dilated Cardiomyopathy DSG2 NM_001943.5(DSG2):c.2585G>C (p.Ser862Thr) SNV Uncertain significance 684849 18:29125934-29125934 18:31545971-31545971 DLT002 Dilated Cardiomyopathy DMD NM_004006.2(DMD):c.4428G>T (p.Met1476Ile) SNV Uncertain significance 684852 X:32407708-32407708 X:32389591-32389591 DLT002 Dilated Cardiomyopathy DMD NM_004006.2(DMD):c.4082G>A (p.Arg1361Lys) SNV Uncertain significance 684820 rs753639717 X:32430020-32430020 X:32411903-32411903 DLT002 Dilated Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.651G>C (p.Lys217Asn) SNV Uncertain significance 689531 1:201331109-201331109 1:201361981-201361981 DLT002 Dilated Cardiomyopathy RYR2 NM_001035.3(RYR2):c.2026G>A (p.Glu676Lys) SNV Uncertain significance 689574 1:237659875-237659875 1:237496575-237496575 DLT002 Dilated Cardiomyopathy FPGT-TNNI3K NM_015978.3(TNNI3K):c.500T>C (p.Phe167Ser) SNV Uncertain significance 689593 1:74797189-74797189 1:74331505-74331505 DLT002 Dilated Cardiomyopathy TNNI3K NM_015978.3(TNNI3K):c.500T>C (p.Phe167Ser) SNV Uncertain significance 689593 1:74797189-74797189 1:74331505-74331505 DLT002 Dilated Cardiomyopathy STK38 NM_007271.4(STK38):c.222dup (p.Glu75fs) duplication Uncertain significance 689595 6:36492201-36492202 6:36524424-36524425 DLT002 Dilated Cardiomyopathy FLNC NM_001458.4(FLNC):c.3275_3278delinsAAGA (p.Thr1092_Gly1093delinsLysAsp) indel Uncertain significance 689592 7:128484794-128484797 7:128844740-128844743 DLT002 Dilated Cardiomyopathy FLNC NM_001458.4(FLNC):c.4192A>G (p.Lys1398Glu) SNV Uncertain significance 689582 7:128486863-128486863 7:128846809-128846809 DLT002 Dilated Cardiomyopathy SOS1 NM_005633.3(SOS1):c.3839_3841AAG[3] (p.Glu1281dup) short repeat Uncertain significance 691808 2:39213122-39213123 2:38985981-38985982 DLT002 Dilated Cardiomyopathy TNNC1 NM_003280.3(TNNC1):c.25G>A (p.Val9Ile) SNV Uncertain significance 691810 3:52486529-52486529 3:52452513-52452513 DLT002 Dilated Cardiomyopathy TBX20 NM_001077653.2(TBX20):c.994C>T (p.Pro332Ser) SNV Uncertain significance 691824 7:35244091-35244091 7:35204479-35204479 DLT002 Dilated Cardiomyopathy TBX20 NM_001077653.2(TBX20):c.208G>A (p.Gly70Ser) SNV Uncertain significance 691821 7:35289735-35289735 7:35250123-35250123 DLT002 Dilated Cardiomyopathy RBM20 NM_001134363.3(RBM20):c.298C>T (p.Leu100Phe) SNV Uncertain significance 691820 10:112540665-112540665 10:110780907-110780907 DLT002 Dilated Cardiomyopathy PKP2 NM_004572.3(PKP2):c.1536T>A (p.Asn512Lys) SNV Uncertain significance 691835 12:32994114-32994114 12:32841180-32841180 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.5767A>G (p.Lys1923Glu) SNV Uncertain significance 691823 14:23882991-23882991 14:23413782-23413782 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.4501G>T (p.Glu1501Ter) SNV Uncertain significance 691841 14:23886380-23886380 14:23417171-23417171 DLT002 Dilated Cardiomyopathy TPM1 NM_001018005.2(TPM1):c.340G>C (p.Glu114Gln) SNV Uncertain significance 691836 15:63349283-63349283 15:63057084-63057084 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.3346T>C (p.Tyr1116His) SNV Uncertain significance 691715 6:7579769-7579769 6:7579536-7579536 DLT002 Dilated Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.817G>A (p.Val273Ile) SNV Uncertain significance 691825 1:201328785-201328785 1:201359657-201359657 DLT002 Dilated Cardiomyopathy RYR2 NM_001035.3(RYR2):c.1699G>C (p.Ala567Pro) SNV Uncertain significance 691812 1:237632478-237632478 1:237469178-237469178 DLT002 Dilated Cardiomyopathy NEXN NM_144573.3(NEXN):c.1619T>C (p.Met540Thr) SNV Uncertain significance 691811 1:78407853-78407853 1:77942168-77942168 DLT002 Dilated Cardiomyopathy FHL2 NM_001318895.3(FHL2):c.143G>A (p.Gly48Asp) SNV Uncertain significance 691819 2:106002831-106002831 2:105386374-105386374 DLT002 Dilated Cardiomyopathy TAZ NM_000116.5(TAZ):c.699+5G>A SNV Uncertain significance 684834 X:153648608-153648608 X:154420269-154420269 DLT002 Dilated Cardiomyopathy VCL NM_003373.4(VCL):c.1382C>A (p.Ala461Asp) SNV Uncertain significance 689587 10:75854058-75854058 10:74094300-74094300 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.3866G>A (p.Arg1289Gln) SNV Uncertain significance 689588 14:23888492-23888492 14:23419283-23419283 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.1565A>T (p.Asp522Val) SNV Uncertain significance 689594 14:23897722-23897722 14:23428513-23428513 DLT002 Dilated Cardiomyopathy CTF1 NM_001330.3(CTF1):c.465dup (p.Ala156fs) duplication Uncertain significance 689586 16:30913713-30913714 16:30902392-30902393 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.43631T>C (p.Met14544Thr) SNV Uncertain significance 691697 2:179496990-179496990 2:178632263-178632263 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.7308T>A (p.Asp2436Glu) SNV Uncertain significance 692125 6:7584803-7584803 6:7584570-7584570 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.68225-1G>C SNV Uncertain significance 692128 2:179443443-179443443 2:178578716-178578716 DLT002 Dilated Cardiomyopathy MYPN NM_032578.3(MYPN):c.1600+4A>G SNV Uncertain significance 692123 10:69925579-69925579 10:68165822-68165822 DLT002 Dilated Cardiomyopathy PDLIM3 NC_000004.12:g.(?_185500650)_(185535568_?)dup duplication Uncertain significance 831671 4:186421804-186456722 DLT002 Dilated Cardiomyopathy PDLIM3 NC_000004.12:g.(?_185523352)_(185535568_?)dup duplication Uncertain significance 831121 4:186444506-186456722 DLT002 Dilated Cardiomyopathy NEBL NC_000010.11:g.(?_20828520)_(20828644_?)del deletion Uncertain significance 831348 10:21117449-21117573 DLT002 Dilated Cardiomyopathy NEBL NC_000010.11:g.(?_20840729)_(20840859_?)del deletion Uncertain significance 832998 10:21129658-21129788 DLT002 Dilated Cardiomyopathy TXNRD2 NC_000022.11:g.(?_19877095)_(19941813_?)del deletion Uncertain significance 831127 22:19864618-19929336 DLT002 Dilated Cardiomyopathy TXNRD2 NC_000022.11:g.(?_19911367)_(19911457_?)del deletion Uncertain significance 832640 22:19898890-19898980 DLT002 Dilated Cardiomyopathy FHL2 NM_001318895.3(FHL2):c.721G>A (p.Glu241Lys) SNV Uncertain significance 843362 2:105977859-105977859 2:105361402-105361402 DLT002 Dilated Cardiomyopathy FHL2 NM_001318895.3(FHL2):c.688G>A (p.Gly230Arg) SNV Uncertain significance 846975 2:105979742-105979742 2:105363285-105363285 DLT002 Dilated Cardiomyopathy FHL2 NM_001318895.3(FHL2):c.139A>G (p.Ile47Val) SNV Uncertain significance 864548 2:106002835-106002835 2:105386378-105386378 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.6(PDLIM3):c.1043G>A (p.Arg348His) SNV Uncertain significance 859330 4:186423500-186423500 4:185502346-185502346 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.6(PDLIM3):c.554T>C (p.Ile185Thr) SNV Uncertain significance 845418 4:186429561-186429561 4:185508407-185508407 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.6(PDLIM3):c.547G>T (p.Val183Leu) SNV Uncertain significance 844182 4:186429568-186429568 4:185508414-185508414 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.6(PDLIM3):c.388G>A (p.Gly130Ser) SNV Uncertain significance 841616 4:186435434-186435434 4:185514280-185514280 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.6(PDLIM3):c.273A>G (p.Gln91=) SNV Uncertain significance 838711 4:186444573-186444573 4:185523419-185523419 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.6(PDLIM3):c.107G>A (p.Ser36Asn) SNV Uncertain significance 855288 4:186446312-186446312 4:185525158-185525158 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.6(PDLIM3):c.47G>T (p.Arg16Met) SNV Uncertain significance 859804 4:186456542-186456542 4:185535388-185535388 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.6(PDLIM3):c.40G>A (p.Gly14Ser) SNV Uncertain significance 836395 4:186456549-186456549 4:185535395-185535395 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.6(PDLIM3):c.25G>A (p.Gly9Ser) SNV Uncertain significance 863384 4:186456564-186456564 4:185535410-185535410 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.2849T>C (p.Met950Thr) SNV Uncertain significance 841060 10:21076150-21076150 10:20787221-20787221 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.2686dup (p.Asp896fs) duplication Uncertain significance 840671 10:21097513-21097514 10:20808584-20808585 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.2602A>G (p.Met868Val) SNV Uncertain significance 854467 10:21098744-21098744 10:20809815-20809815 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.2110C>G (p.Leu704Val) SNV Uncertain significance 842517 10:21106567-21106567 10:20817638-20817638 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.2033G>A (p.Arg678Gln) SNV Uncertain significance 861583 10:21108375-21108375 10:20819446-20819446 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.2026G>A (p.Val676Met) SNV Uncertain significance 846481 10:21108382-21108382 10:20819453-20819453 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.1864A>C (p.Ser622Arg) SNV Uncertain significance 851776 10:21115381-21115381 10:20826452-20826452 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.1773T>G (p.Ser591Arg) SNV Uncertain significance 856545 10:21117462-21117462 10:20828533-20828533 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.1691C>T (p.Ala564Val) SNV Uncertain significance 862526 10:21117544-21117544 10:20828615-20828615 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.1672A>C (p.Arg558=) SNV Uncertain significance 845705 10:21117563-21117563 10:20828634-20828634 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.1469T>C (p.Leu490Pro) SNV Uncertain significance 838624 10:21120493-21120493 10:20831564-20831564 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.1366A>G (p.Ile456Val) SNV Uncertain significance 845171 10:21124525-21124525 10:20835596-20835596 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.1144G>A (p.Glu382Lys) SNV Uncertain significance 841172 10:21134270-21134270 10:20845341-20845341 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.1119A>G (p.Lys373=) SNV Uncertain significance 844718 10:21134295-21134295 10:20845366-20845366 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.976C>T (p.His326Tyr) SNV Uncertain significance 835795 10:21141506-21141506 10:20852577-20852577 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.732T>A (p.His244Gln) SNV Uncertain significance 843046 10:21148708-21148708 10:20859779-20859779 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.692A>T (p.Tyr231Phe) SNV Uncertain significance 849263 10:21148748-21148748 10:20859819-20859819 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.650A>G (p.Glu217Gly) SNV Uncertain significance 843338 10:21157627-21157627 10:20868698-20868698 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.498C>A (p.Asp166Glu) SNV Uncertain significance 852792 10:21158753-21158753 10:20869824-20869824 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.310C>T (p.Arg104Trp) SNV Uncertain significance 847854 10:21177085-21177085 10:20888156-20888156 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.173_174del (p.Glu57_Phe58insTer) deletion Uncertain significance 860803 10:21178858-21178859 10:20889929-20889930 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.149G>A (p.Ser50Asn) SNV Uncertain significance 843104 10:21185891-21185891 10:20896962-20896962 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1534C>T (p.Arg512Cys) SNV Uncertain significance 852325 22:19864669-19864669 22:19877146-19877146 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1376T>C (p.Leu459Pro) SNV Uncertain significance 846879 22:19865682-19865682 22:19878159-19878159 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1285G>A (p.Ala429Thr) SNV Uncertain significance 849540 22:19865951-19865951 22:19878428-19878428 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1280A>G (p.Tyr427Cys) SNV Uncertain significance 856915 22:19865956-19865956 22:19878433-19878433 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1157C>A (p.Ser386Tyr) SNV Uncertain significance 840840 22:19868170-19868170 22:19880647-19880647 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1156T>C (p.Ser386Pro) SNV Uncertain significance 848999 22:19868171-19868171 22:19880648-19880648 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1154G>C (p.Gly385Ala) SNV Uncertain significance 840176 22:19868173-19868173 22:19880650-19880650 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1152C>T (p.Gly384=) SNV Uncertain significance 856216 22:19868175-19868175 22:19880652-19880652 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1150G>C (p.Gly384Arg) SNV Uncertain significance 838125 22:19868177-19868177 22:19880654-19880654 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1126A>G (p.Arg376Gly) SNV Uncertain significance 840839 22:19868201-19868201 22:19880678-19880678 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1118T>C (p.Met373Thr) SNV Uncertain significance 854651 22:19868209-19868209 22:19880686-19880686 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.847C>T (p.Arg283Trp) SNV Uncertain significance 846179 22:19883032-19883032 22:19895509-19895509 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.789G>A (p.Met263Ile) SNV Uncertain significance 840418 22:19883090-19883090 22:19895567-19895567 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.571C>T (p.Arg191Trp) SNV Uncertain significance 836345 22:19902757-19902757 22:19915234-19915234 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.382A>T (p.Met128Leu) SNV Uncertain significance 850888 22:19905733-19905733 22:19918210-19918210 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.6(PDLIM3):c.331-1G>A SNV Uncertain significance 835479 4:186435492-186435492 4:185514338-185514338 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.2612-6A>G SNV Uncertain significance 840911 10:21097594-21097594 10:20808665-20808665 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.903+1G>A SNV Uncertain significance 835582 10:21147168-21147168 10:20858239-20858239 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.591+1G>A SNV Uncertain significance 850099 22:19902736-19902736 22:19915213-19915213 DLT002 Dilated Cardiomyopathy TAZ NM_000116.5(TAZ):c.351G>A (p.Lys117=) SNV Uncertain significance 914161 X:153641885-153641885 X:154413548-154413548 DLT002 Dilated Cardiomyopathy TAZ NM_000116.5(TAZ):c.*33G>A SNV Uncertain significance 913803 X:153649376-153649376 X:154421037-154421037 DLT002 Dilated Cardiomyopathy TAZ NM_000116.5(TAZ):c.*165T>A SNV Uncertain significance 914208 X:153649508-153649508 X:154421169-154421169 DLT002 Dilated Cardiomyopathy TAZ NM_000116.5(TAZ):c.*618A>G SNV Uncertain significance 913108 X:153649961-153649961 X:154421622-154421622 DLT002 Dilated Cardiomyopathy TAZ NM_000116.5(TAZ):c.*648A>C SNV Uncertain significance 913109 X:153649991-153649991 X:154421652-154421652 DLT002 Dilated Cardiomyopathy TAZ NM_000116.5(TAZ):c.647-6C>T SNV Uncertain significance 912700 X:153648545-153648545 X:154420206-154420206 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.3(ANKRD1):c.943C>T (p.Arg315Cys) SNV Uncertain significance 877286 10:92672640-92672640 10:90912883-90912883 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.3(ANKRD1):c.798G>C (p.Lys266Asn) SNV Uncertain significance 878324 10:92675351-92675351 10:90915594-90915594 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.3(ANKRD1):c.544C>T (p.Arg182Cys) SNV Uncertain significance 878325 10:92677497-92677497 10:90917740-90917740 DLT002 Dilated Cardiomyopathy ANKRD1 NC_000010.11:g.90921106G>A SNV Uncertain significance 880128 10:92680863-92680863 10:90921106-90921106 DLT002 Dilated Cardiomyopathy ANKRD1 NC_000010.11:g.90921194G>A SNV Uncertain significance 877340 10:92680951-92680951 10:90921194-90921194 DLT002 Dilated Cardiomyopathy TAZ NM_000116.5(TAZ):c.49T>C (p.Trp17Arg) SNV Uncertain significance 913761 X:153640229-153640229 X:154411892-154411892 DLT002 Dilated Cardiomyopathy LDB3 NM_007078.3(LDB3):c.896+6753C>T SNV Uncertain significance 4729 rs121908335 10:88459081-88459081 10:86699324-86699324 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.3(ANKRD1):c.*489G>A SNV Uncertain significance 880083 10:92672134-92672134 10:90912377-90912377 DLT002 Dilated Cardiomyopathy ELAC2 NM_018127.7(ELAC2):c.1567C>T (p.Gln523Ter) SNV Uncertain significance 870073 17:12899956-12899956 17:12996639-12996639 DLT002 Dilated Cardiomyopathy ELAC2 NM_018127.7(ELAC2):c.1532C>A (p.Ser511Tyr) SNV Uncertain significance 870074 17:12899991-12899991 17:12996674-12996674 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.3(ANKRD1):c.*642G>A SNV Uncertain significance 878866 10:92671981-92671981 10:90912224-90912224 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.3(ANKRD1):c.*634G>A SNV Uncertain significance 880081 10:92671989-92671989 10:90912232-90912232 DLT002 Dilated Cardiomyopathy SCN5A NM_000335.5(SCN5A):c.892G>A (p.Gly298Ser) SNV Uncertain significance 9387 rs137854608 3:38651267-38651267 3:38609776-38609776 DLT002 Dilated Cardiomyopathy LDB3 NM_007078.3(LDB3):c.2092G>A (p.Ala698Thr) SNV Uncertain significance 36446 rs45577134 10:88486007-88486007 10:86726250-86726250 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.317A>C (p.Glu106Ala) SNV Uncertain significance 31840 rs199476400 4:186444529-186444529 4:185523375-185523375 DLT002 Dilated Cardiomyopathy TAZ NM_000116.5(TAZ):c.535C>G (p.Pro179Ala) SNV Uncertain significance 42261 rs397515744 X:153647956-153647956 X:154419617-154419617 DLT002 Dilated Cardiomyopathy MYBPC3 NM_000256.3(MYBPC3):c.436A>C (p.Thr146Pro) SNV Uncertain significance 42750 rs397516048 11:47371634-47371634 11:47350083-47350083 DLT002 Dilated Cardiomyopathy MYBPC3 NM_000256.3(MYBPC3):c.1814A>G (p.Asp605Gly) SNV Uncertain significance 42573 rs372371774 11:47362772-47362772 11:47341221-47341221 DLT002 Dilated Cardiomyopathy MYBPC3 NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn) SNV Uncertain significance 42575 rs371564200 11:47362758-47362758 11:47341207-47341207 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) SNV Uncertain significance 42953 rs45478699 14:23890217-23890217 14:23421008-23421008 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.3578G>A (p.Arg1193His) SNV Uncertain significance 42965 rs397516187 14:23889202-23889202 14:23419993-23419993 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys) SNV Uncertain significance 43005 rs397516208 14:23886789-23886789 14:23417580-23417580 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.161G>A (p.Arg54Gln) SNV Uncertain significance 42856 rs397516117 14:23902781-23902781 14:23433572-23433572 DLT002 Dilated Cardiomyopathy MYL2 NM_000432.4(MYL2):c.31G>A (p.Gly11Arg) SNV Uncertain significance 43466 rs397516402 12:111356970-111356970 12:110919166-110919166 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.4985G>A (p.Arg1662His) SNV Uncertain significance 43049 rs370328209 14:23885010-23885010 14:23415801-23415801 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.5588G>A (p.Arg1863Gln) SNV Uncertain significance 43076 rs45520836 14:23883283-23883283 14:23414074-23414074 DLT002 Dilated Cardiomyopathy RBM20 NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr) SNV Uncertain significance 43963 rs112226602 10:112541394-112541394 10:110781636-110781636 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.31426+1G>C SNV Uncertain significance 46849 rs6749719 2:179559325-179559325 2:178694598-178694598 DLT002 Dilated Cardiomyopathy DES NM_001927.4(DES):c.1048C>T (p.Arg350Trp) SNV Uncertain significance 44244 rs62636492 2:220286086-220286086 2:219421364-219421364 DLT002 Dilated Cardiomyopathy DSG2 NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile) SNV Uncertain significance 44309 rs200830807 18:29126389-29126389 18:31546426-31546426 DLT002 Dilated Cardiomyopathy DSG2 NM_001943.5(DSG2):c.44T>A (p.Leu15Gln) SNV Uncertain significance 44318 rs372174546 18:29078258-29078258 18:31498295-31498295 DLT002 Dilated Cardiomyopathy RBM20 NM_001134363.3(RBM20):c.544C>A (p.Pro182Thr) SNV Uncertain significance 44022 rs397516622 10:112540911-112540911 10:110781153-110781153 DLT002 Dilated Cardiomyopathy RBM20 NM_001134363.3(RBM20):c.1973C>G (p.Ser658Cys) SNV Uncertain significance 43982 rs397516598 10:112572128-112572128 10:110812370-110812370 DLT002 Dilated Cardiomyopathy RBM20 NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln) SNV Uncertain significance 43986 rs375798246 10:112572302-112572302 10:110812544-110812544 DLT002 Dilated Cardiomyopathy TNNC1 NM_003280.3(TNNC1):c.442A>G (p.Ile148Val) SNV Uncertain significance 44682 rs397516848 3:52485419-52485419 3:52451403-52451403 DLT002 Dilated Cardiomyopathy PKP2 NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys) SNV Uncertain significance 45056 rs199583774 12:32974352-32974352 12:32821418-32821418 DLT002 Dilated Cardiomyopathy PKP2 NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr) SNV Uncertain significance 45079 rs141438322 12:33031350-33031350 12:32878416-32878416 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.14T>C (p.Val5Ala) SNV Uncertain significance 45481 rs145770601 10:21186121-21186121 10:20897192-20897192 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.1205A>C (p.Tyr402Ser) SNV Uncertain significance 45477 rs375569591 10:21134209-21134209 10:20845280-20845280 DLT002 Dilated Cardiomyopathy ABCC9 NM_005691.3(ABCC9):c.4352T>C (p.Val1451Ala) SNV Uncertain significance 45414 rs397517190 12:21960377-21960377 12:21807443-21807443 DLT002 Dilated Cardiomyopathy DSC2 NM_024422.6(DSC2):c.1091T>G (p.Val364Gly) SNV Uncertain significance 46162 rs368089478 18:28662376-28662376 18:31082410-31082410 DLT002 Dilated Cardiomyopathy SCN5A NM_000335.5(SCN5A):c.2314G>A (p.Asp772Asn) SNV Uncertain significance 48294 rs199473157 3:38629013-38629013 3:38587522-38587522 DLT002 Dilated Cardiomyopathy FHL2 NM_001318895.3(FHL2):c.391C>T (p.Arg131Cys) SNV Uncertain significance 48323 rs397517959 2:105984137-105984137 2:105367680-105367680 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.986G>A (p.Arg329His) SNV Uncertain significance 48091 rs397517913 1:156105741-156105741 1:156135950-156135950 DLT002 Dilated Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.430C>T (p.Arg144Trp) SNV Uncertain significance 127070 rs45525839 1:201333485-201333485 1:201364357-201364357 DLT002 Dilated Cardiomyopathy SCN5A NM_000335.4(SCN5A):c.5686C>T (p.Arg1896Trp) SNV Uncertain significance 68003 rs45465995 3:38592174-38592174 3:38550683-38550683 DLT002 Dilated Cardiomyopathy SCN5A NM_000335.4(SCN5A):c.3832G>A (p.Val1278Ile) SNV Uncertain significance 67829 rs199473341 3:38607905-38607905 3:38566414-38566414 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.565C>T (p.Arg189Trp) SNV Uncertain significance 66906 rs267607626 1:156104245-156104245 1:156134454-156134454 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.57847+5_57847+8del short repeat Uncertain significance 155850 rs587782988 2:179460226-179460229 2:178595499-178595502 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1321C>T (p.Arg441Ter) SNV Uncertain significance 155853 rs200162480 22:19865915-19865915 22:19878392-19878392 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.1001G>A (p.Ser334Asn) SNV Uncertain significance 161292 rs370656306 1:156105756-156105756 1:156135965-156135965 DLT002 Dilated Cardiomyopathy JPH2 NM_020433.4(JPH2):c.723C>G (p.Ser241Arg) SNV Uncertain significance 155801 rs587782952 20:42788704-42788704 20:44160064-44160064 DLT002 Dilated Cardiomyopathy CTNNA3 NM_013266.4(CTNNA3):c.2571del (p.Pro857_Leu858insTer) deletion Uncertain significance 155779 rs587782935 10:67680205-67680205 10:65920447-65920447 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys) SNV Uncertain significance 161322 rs201865159 14:23884269-23884269 14:23415060-23415060 DLT002 Dilated Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.547C>G (p.Arg183Gly) SNV Uncertain significance 165542 rs727503512 1:201332477-201332477 1:201363349-201363349 DLT002 Dilated Cardiomyopathy MYH6 NM_002471.3(MYH6):c.67C>T (p.Arg23Cys) SNV Uncertain significance 155809 rs587782959 14:23876366-23876366 14:23407157-23407157 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.48460+5G>A SNV Uncertain significance 178208 rs374413644 2:179480363-179480363 2:178615636-178615636 DLT002 Dilated Cardiomyopathy RYR2 NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile) SNV Uncertain significance 155831 rs201675951 1:237774070-237774070 1:237610770-237610770 DLT002 Dilated Cardiomyopathy FHL2 NM_001318895.3(FHL2):c.512C>T (p.Thr171Met) SNV Uncertain significance 179156 rs727504674 2:105979918-105979918 2:105363461-105363461 DLT002 Dilated Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.572T>G (p.Met191Arg) SNV Uncertain significance 222841 rs869025538 1:201332452-201332452 1:201363324-201363324 DLT002 Dilated Cardiomyopathy RYR2 NM_001035.3(RYR2):c.3839C>G (p.Ser1280Cys) SNV Uncertain significance 222786 rs759424061 1:237753971-237753971 1:237590671-237590671 DLT002 Dilated Cardiomyopathy RYR2 NM_001035.3(RYR2):c.10471C>G (p.Leu3491Val) SNV Uncertain significance 222793 rs747700917 1:237880645-237880645 1:237717345-237717345 DLT002 Dilated Cardiomyopathy RYR2 NM_001035.3(RYR2):c.12837G>A (p.Met4279Ile) SNV Uncertain significance 222794 rs750117613 1:237947849-237947849 1:237784549-237784549 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.34132del (p.Leu11378fs) deletion Uncertain significance 222871 rs869025551 2:179542507-179542507 2:178677780-178677780 DLT002 Dilated Cardiomyopathy RYR2 NM_001035.3(RYR2):c.5278C>T (p.Arg1760Trp) SNV Uncertain significance 207950 rs776550479 1:237777706-237777706 1:237614406-237614406 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.357+73532T>C SNV Uncertain significance 201900 rs371620771 10:21177069-21177069 10:20888140-20888140 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-4707C>A SNV Uncertain significance 201909 rs371551337 10:21106576-21106576 10:20817647-20817647 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.661C>T (p.Arg221Cys) SNV Uncertain significance 222693 rs869025457 1:156104617-156104617 1:156134826-156134826 DLT002 Dilated Cardiomyopathy DMD NM_004006.3(DMD):c.2251C>T (p.Arg751Trp) SNV Uncertain significance 201757 rs373475448 X:32536166-32536166 X:32518049-32518049 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.4510A>T (p.Asn1504Tyr) SNV Uncertain significance 222728 rs869025482 14:23886371-23886371 14:23417162-23417162 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.3929A>C (p.Gln1310Pro) SNV Uncertain significance 222727 rs869025481 14:23888429-23888429 14:23419220-23419220 DLT002 Dilated Cardiomyopathy SYNE2 NM_015180.5(SYNE2):c.14407del (p.Ser4803fs) deletion Uncertain significance 222827 rs869025529 14:64599048-64599048 14:64132330-64132330 DLT002 Dilated Cardiomyopathy TPM1 NM_001018005.2(TPM1):c.257C>G (p.Ala86Gly) SNV Uncertain significance 222846 rs757577112 15:63349200-63349200 15:63057001-63057001 DLT002 Dilated Cardiomyopathy HCN4 NM_005477.3(HCN4):c.559G>A (p.Ala187Thr) SNV Uncertain significance 222646 rs761571946 15:73660053-73660053 15:73367712-73367712 DLT002 Dilated Cardiomyopathy TCAP NM_003673.3(TCAP):c.49C>T (p.Arg17Cys) SNV Uncertain significance 222830 rs869025530 17:37821661-37821661 17:39665408-39665408 DLT002 Dilated Cardiomyopathy JUP NM_002230.4(JUP):c.578T>C (p.Met193Thr) SNV Uncertain significance 222661 rs139496777 17:39925350-39925350 17:41769098-41769098 DLT002 Dilated Cardiomyopathy DSC2 NM_024422.6(DSC2):c.2012_2013delinsCT (p.Cys671Ser) indel Uncertain significance 222559 rs869025387 18:28651683-28651684 18:31071717-31071718 DLT002 Dilated Cardiomyopathy DTNA NM_001390.4(DTNA):c.2087C>T (p.Thr696Met) SNV Uncertain significance 222594 rs200977103 18:32462038-32462038 18:34882074-34882074 DLT002 Dilated Cardiomyopathy DTNA NM_001390.4(DTNA):c.2119G>A (p.Asp707Asn) SNV Uncertain significance 222595 rs769251451 18:32462070-32462070 18:34882106-34882106 DLT002 Dilated Cardiomyopathy JPH2 NM_020433.4(JPH2):c.1564C>T (p.Arg522Trp) SNV Uncertain significance 222659 rs770850932 20:42744751-42744751 20:44116111-44116111 DLT002 Dilated Cardiomyopathy JPH2 NM_020433.4(JPH2):c.1282C>T (p.Gln428Ter) SNV Uncertain significance 222657 rs199896820 20:42747151-42747151 20:44118511-44118511 DLT002 Dilated Cardiomyopathy JPH2 NM_020433.4(JPH2):c.1227C>G (p.Asn409Lys) SNV Uncertain significance 222656 rs869025441 20:42747206-42747206 20:44118566-44118566 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1322G>A (p.Arg441Gln) SNV Uncertain significance 222885 rs759374389 22:19865914-19865914 22:19878391-19878391 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.896G>A (p.Ser299Asn) SNV Uncertain significance 222884 rs779054925 22:19882983-19882983 22:19895460-19895460 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.236G>A (p.Arg79Gln) SNV Uncertain significance 222882 rs373979810 22:19906521-19906521 22:19918998-19918998 DLT002 Dilated Cardiomyopathy DPP6 NM_130797.4(DPP6):c.2077C>T (p.Arg693Trp) SNV Uncertain significance 222555 rs869025385 7:154667809-154667809 7:154876099-154876099 DLT002 Dilated Cardiomyopathy RBM20 NM_001134363.3(RBM20):c.611C>T (p.Pro204Leu) SNV Uncertain significance 222777 rs869025503 10:112540978-112540978 10:110781220-110781220 DLT002 Dilated Cardiomyopathy RBM20 NM_001134363.3(RBM20):c.1281G>A (p.Trp427Ter) SNV Uncertain significance 222778 rs869025504 10:112543129-112543129 10:110783371-110783371 DLT002 Dilated Cardiomyopathy RBM20 NM_001134363.3(RBM20):c.3496T>C (p.Cys1166Arg) SNV Uncertain significance 222782 rs869025506 10:112590863-112590863 10:110831105-110831105 DLT002 Dilated Cardiomyopathy BAG3 NM_004281.3(BAG3):c.55C>T (p.Arg19Cys) SNV Uncertain significance 222509 rs727502896 10:121411242-121411242 10:119651730-119651730 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.2432T>C (p.Leu811Pro) SNV Uncertain significance 222575 rs869025391 6:7575024-7575024 6:7574791-7574791 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.5066T>C (p.Ile1689Thr) SNV Uncertain significance 222580 rs869025394 6:7581489-7581489 6:7581256-7581256 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.5617C>T (p.Arg1873Cys) SNV Uncertain significance 222581 rs144392839 6:7583112-7583112 6:7582879-7582879 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.7330+5G>C SNV Uncertain significance 222865 rs869025547 2:179638560-179638560 2:178773833-178773833 DLT002 Dilated Cardiomyopathy DES NM_001927.4(DES):c.1234G>A (p.Glu412Lys) SNV Uncertain significance 222543 rs869025380 2:220286272-220286272 2:219421550-219421550 DLT002 Dilated Cardiomyopathy RAF1 NM_001354689.3(RAF1):c.1280T>A (p.Leu427His) SNV Uncertain significance 222775 rs869025502 3:12632447-12632447 3:12590948-12590948 DLT002 Dilated Cardiomyopathy TMEM43 NM_024334.2(TMEM43):c.803G>T (p.Arg268Leu) SNV Uncertain significance 222840 rs769969149 3:14177329-14177329 3:14135829-14135829 DLT002 Dilated Cardiomyopathy GPD1L NM_015141.3(GPD1L):c.692G>A (p.Arg231His) SNV Uncertain significance 222645 rs869025436 3:32200441-32200441 3:32158949-32158949 DLT002 Dilated Cardiomyopathy SCN5A NM_198056.2(SCN5A):c.4267G>A (p.Asp1423Asn) SNV Uncertain significance 222810 rs746291609 3:38598754-38598754 3:38557263-38557263 DLT002 Dilated Cardiomyopathy SCN5A NM_001099405.1(SCN5A):c.1671C>G (p.His557Gln) SNV Uncertain significance 222806 rs762858787 3:38645422-38645422 3:38603931-38603931 DLT002 Dilated Cardiomyopathy SCN5A NM_000335.4(SCN5A):c.1036G>A (p.Glu346Lys) SNV Uncertain significance 222804 rs368552426 3:38648264-38648264 3:38606773-38606773 DLT002 Dilated Cardiomyopathy ANK2 NM_001148.6(ANK2):c.9871C>T (p.Pro3291Ser) SNV Uncertain significance 222505 rs869025361 4:114279645-114279645 4:113358489-113358489 DLT002 Dilated Cardiomyopathy PDLIM3 NM_001114107.4(PDLIM3):c.599G>A (p.Arg200His) SNV Uncertain significance 222763 rs377158204 4:186427726-186427726 4:185506572-185506572 DLT002 Dilated Cardiomyopathy LAMA4 NM_001105206.3(LAMA4):c.2493G>A (p.Lys831=) SNV Uncertain significance 222682 rs869025450 6:112465996-112465996 6:112144794-112144794 DLT002 Dilated Cardiomyopathy LAMA4 NM_001105206.3(LAMA4):c.1121G>A (p.Ser374Asn) SNV Uncertain significance 222679 rs869025449 6:112499391-112499391 6:112178189-112178189 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.55C>T (p.Arg19Cys) SNV Uncertain significance 222570 rs777340009 6:7542203-7542203 6:7541970-7541970 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-18553G>T SNV Uncertain significance 201908 rs781572930 10:21120422-21120422 10:20831493-20831493 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.529+4142C>T SNV Uncertain significance 201910 rs151012132 10:21097556-21097556 10:20808627-20808627 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.1067C>A (p.Thr356Lys) SNV Uncertain significance 199858 rs780626687 6:7567609-7567609 6:7567376-7567376 DLT002 Dilated Cardiomyopathy NEXN NM_144573.3(NEXN):c.1416_1418AAG[1] (p.Arg475del) short repeat Uncertain significance 201940 rs794729091 1:78401672-78401674 1:77935987-77935989 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.1082A>G (p.Tyr361Cys) SNV Uncertain significance 201955 rs779267023 4:186423461-186423461 4:185502307-185502307 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.926G>A (p.Arg309Gln) SNV Uncertain significance 201954 rs200273032 4:186423617-186423617 4:185502463-185502463 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.3(ANKRD1):c.222dup (p.Leu75fs) duplication Uncertain significance 201670 rs776659587 10:92679010-92679011 10:90919253-90919254 DLT002 Dilated Cardiomyopathy LDB3 NM_007078.3(LDB3):c.54G>T (p.Gln18His) SNV Uncertain significance 201856 rs149348427 10:88428502-88428502 10:86668745-86668745 DLT002 Dilated Cardiomyopathy LDB3 NM_007078.3(LDB3):c.690-4802C>A SNV Uncertain significance 201860 rs755513516 10:88446851-88446851 10:86687094-86687094 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.2(ANKRD1):c.881A>G (p.His294Arg) SNV Uncertain significance 201668 rs754657888 10:92672702-92672702 10:90912945-90912945 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.31594G>A (p.Val10532Ile) SNV Uncertain significance 202358 rs763955552 2:179558336-179558336 2:178693609-178693609 DLT002 Dilated Cardiomyopathy MYPN NM_032578.4(MYPN):c.3335C>A (p.Pro1112His) SNV Uncertain significance 191757 rs71534278 10:69959174-69959174 10:68199417-68199417 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.33094+1G>A SNV Uncertain significance 191582 rs786205398 2:179547423-179547423 2:178682696-178682696 DLT002 Dilated Cardiomyopathy CALR3 NM_145046.4(CALR3):c.67T>A (p.Phe23Ile) SNV Uncertain significance 180292 rs368506422 19:16606874-16606874 19:16496063-16496063 DLT002 Dilated Cardiomyopathy DMD NM_004006.2(DMD):c.6118-3C>A SNV Uncertain significance 180315 rs730880074 X:32305821-32305821 X:32287704-32287704 DLT002 Dilated Cardiomyopathy JUP NM_002230.4(JUP):c.1924+8G>C SNV Uncertain significance 180378 rs730880115 17:39913878-39913878 17:41757626-41757626 DLT002 Dilated Cardiomyopathy DTNA NM_001390.4(DTNA):c.325A>G (p.Ser109Gly) SNV Uncertain significance 180345 rs730880094 18:32374177-32374177 18:34794213-34794213 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) SNV Uncertain significance 195928 rs794727410 14:23889113-23889113 14:23419904-23419904 DLT002 Dilated Cardiomyopathy SGCD NM_000337.5(SGCD):c.32G>A (p.Arg11Gln) SNV Uncertain significance 196256 rs752548592 5:155771527-155771527 5:156344517-156344517 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.2(ANKRD1):c.821A>G (p.Tyr274Cys) SNV Uncertain significance 191602 rs374486076 10:92675328-92675328 10:90915571-90915571 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) SNV Uncertain significance 191577 rs145387010 10:92678707-92678707 10:90918950-90918950 DLT002 Dilated Cardiomyopathy JUP NM_002230.4(JUP):c.526C>T (p.Arg176Trp) SNV Uncertain significance 191675 rs368336007 17:39925402-39925402 17:41769150-41769150 DLT002 Dilated Cardiomyopathy NEXN NM_144573.3(NEXN):c.1572_1574delAGA short repeat Uncertain significance 194130 rs764505909 1:78407806-78407808 1:77942121-77942123 DLT002 Dilated Cardiomyopathy BAG3 NM_004281.3(BAG3):c.487C>T (p.Pro163Ser) SNV Uncertain significance 195212 rs746956979 10:121429669-121429669 10:119670157-119670157 DLT002 Dilated Cardiomyopathy SCN5A NM_198056.2(SCN5A):c.589G>T (p.Asp197Tyr) SNV Uncertain significance 201435 rs794728848 3:38662356-38662356 3:38620865-38620865 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.2417C>T (p.Thr806Ile) SNV Uncertain significance 164741 rs200705273 10:21101799-21101799 10:20812870-20812870 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.2398G>A (p.Val800Ile) SNV Uncertain significance 178094 rs367986765 10:21101818-21101818 10:20812889-20812889 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.1837C>T (p.Arg613Ter) SNV Uncertain significance 178096 rs146471913 10:21115408-21115408 10:20826479-20826479 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.1477_1478del (p.Met493fs) deletion Uncertain significance 177817 rs727504336 14:23897809-23897810 14:23428600-23428601 DLT002 Dilated Cardiomyopathy MYL2 NM_000432.4(MYL2):c.421G>A (p.Ala141Thr) SNV Uncertain significance 178948 rs727504559 12:111348961-111348961 12:110911157-110911157 DLT002 Dilated Cardiomyopathy MYH6 NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp) SNV Uncertain significance 164221 rs727503234 14:23857395-23857395 14:23388186-23388186 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.11312-3963G>T SNV Uncertain significance 166247 rs148430495 2:179610611-179610611 2:178745884-178745884 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.26893G>A (p.Glu8965Lys) SNV Uncertain significance 179441 rs200325324 2:179577968-179577968 2:178713241-178713241 DLT002 Dilated Cardiomyopathy SGCD NM_000337.5(SGCD):c.699+72A>C SNV Uncertain significance 165235 rs376317697 5:156184787-156184787 5:156757776-156757776 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.273+5G>A SNV Uncertain significance 163237 rs200473206 6:7556058-7556058 6:7555825-7555825 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln) SNV Uncertain significance 179668 rs727505037 6:7580913-7580913 6:7580680-7580680 DLT002 Dilated Cardiomyopathy TNNC1 NM_003280.3(TNNC1):c.469A>T (p.Met157Leu) SNV Uncertain significance 180550 rs730880230 3:52485308-52485308 3:52451292-52451292 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.476T>A (p.Ile159Asn) SNV Uncertain significance 180469 rs730880177 4:186429639-186429639 4:185508485-185508485 DLT002 Dilated Cardiomyopathy LAMA4 NM_001105206.3(LAMA4):c.631A>C (p.Asn211His) SNV Uncertain significance 180389 rs371848733 6:112512925-112512925 6:112191723-112191723 DLT002 Dilated Cardiomyopathy SYNE1 NM_182961.4(SYNE1):c.14893_14894CA[1] (p.His4965fs) short repeat Uncertain significance 180532 rs730880219 6:152650924-152650925 6:152329789-152329790 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.1544C>T (p.Pro515Leu) SNV Uncertain significance 180322 rs730880079 6:7569543-7569543 6:7569310-7569310 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.41609-2A>C SNV Uncertain significance 180578 rs730880244 2:179500444-179500444 2:178635717-178635717 DLT002 Dilated Cardiomyopathy SCN5A NM_001099405.1(SCN5A):c.3374C>G (p.Ala1125Gly) SNV Uncertain significance 180515 rs730880206 3:38620841-38620841 3:38579350-38579350 DLT002 Dilated Cardiomyopathy SCN5A NM_000335.4(SCN5A):c.413T>C (p.Met138Thr) SNV Uncertain significance 180511 rs730880203 3:38663960-38663960 3:38622469-38622469 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.3973A>C (p.Lys1325Gln) SNV Uncertain significance 180328 rs41302883 6:7580396-7580396 6:7580163-7580163 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.6185A>G (p.His2062Arg) SNV Uncertain significance 180334 rs730880086 6:7583680-7583680 6:7583447-7583447 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.6305G>C (p.Gly2102Ala) SNV Uncertain significance 180335 rs572843477 6:7583800-7583800 6:7583567-7583567 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu) SNV Uncertain significance 180336 rs149513743 6:7583802-7583802 6:7583569-7583569 DLT002 Dilated Cardiomyopathy RBM20 NM_001134363.3(RBM20):c.2393C>T (p.Pro798Leu) SNV Uncertain significance 180481 rs730880184 10:112572548-112572548 10:110812790-110812790 DLT002 Dilated Cardiomyopathy RYR2 NM_001035.3(RYR2):c.2203+3_2203+4dup duplication Uncertain significance 180487 rs730880376 1:237660054-237660055 1:237496754-237496755 DLT002 Dilated Cardiomyopathy BAG3 NM_004281.3(BAG3):c.322G>A (p.Val108Met) SNV Uncertain significance 180281 rs730880053 10:121429504-121429504 10:119669992-119669992 DLT002 Dilated Cardiomyopathy MYPN NM_032578.4(MYPN):c.3913A>G (p.Met1305Val) SNV Uncertain significance 180453 rs730880170 10:69970162-69970162 10:68210405-68210405 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.2(ANKRD1):c.677C>T (p.Ala226Val) SNV Uncertain significance 180275 rs730880050 10:92675612-92675612 10:90915855-90915855 DLT002 Dilated Cardiomyopathy CTNNA3 NM_013266.4(CTNNA3):c.242C>T (p.Thr81Ile) SNV Uncertain significance 180308 rs730880070 10:69366665-69366665 10:67606907-67606907 DLT002 Dilated Cardiomyopathy MYPN NM_032578.4(MYPN):c.3808C>G (p.Gln1270Glu) SNV Uncertain significance 180451 rs730880169 10:69970057-69970057 10:68210300-68210300 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.1888+1G>A SNV Uncertain significance 180441 rs113186231 14:23896793-23896793 14:23427584-23427584 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.475G>C (p.Asp159His) SNV Uncertain significance 180431 rs730880155 14:23901875-23901875 14:23432666-23432666 DLT002 Dilated Cardiomyopathy SYNE2 NM_182914.2(SYNE2):c.9392A>G (p.Asp3131Gly) SNV Uncertain significance 180533 rs730880220 14:64520023-64520023 14:64053305-64053305 DLT002 Dilated Cardiomyopathy ACTC1 NM_005159.5(ACTC1):c.602C>T (p.Ser201Phe) SNV Uncertain significance 180255 rs730880038 15:35084623-35084623 15:34792422-34792422 DLT002 Dilated Cardiomyopathy MYH6 NM_002471.3(MYH6):c.4216G>A (p.Val1406Met) SNV Uncertain significance 180426 rs201566738 14:23857507-23857507 14:23388298-23388298 DLT002 Dilated Cardiomyopathy MYH6 NM_002471.3(MYH6):c.2538G>C (p.Glu846Asp) SNV Uncertain significance 180423 rs730880150 14:23863424-23863424 14:23394215-23394215 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.182C>T (p.Ser61Phe) SNV Uncertain significance 164770 rs543765307 10:21178850-21178850 10:20889921-20889921 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.4075C>T (p.Arg1359Cys) SNV Uncertain significance 178082 rs45451303 14:23887513-23887513 14:23418304-23418304 DLT002 Dilated Cardiomyopathy LAMP2 NM_002294.3(LAMP2):c.32G>T (p.Gly11Val) SNV Uncertain significance 163820 rs3180515 X:119602993-119602993 X:120469138-120469138 DLT002 Dilated Cardiomyopathy DSG2 NM_001943.5(DSG2):c.1105A>G (p.Lys369Glu) SNV Uncertain significance 179902 rs727505208 18:29111040-29111040 18:31531077-31531077 DLT002 Dilated Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.436G>A (p.Glu146Lys) SNV Uncertain significance 180552 rs371142225 1:201333479-201333479 1:201364351-201364351 DLT002 Dilated Cardiomyopathy NEXN NM_144573.3(NEXN):c.1630del (p.Gln544fs) deletion Uncertain significance 180457 rs730880172 1:78407864-78407864 1:77942179-77942179 DLT002 Dilated Cardiomyopathy FHL2 NM_201555.2(FHL2):c.823T>G (p.Cys275Gly) SNV Uncertain significance 180364 rs730880110 2:105977757-105977757 2:105361300-105361300 DLT002 Dilated Cardiomyopathy DMD NM_004006.3(DMD):c.2972A>G (p.Glu991Gly) SNV Uncertain significance 226048 rs747374618 X:32486805-32486805 X:32468688-32468688 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.97192+4A>G SNV Uncertain significance 223355 rs370069759 2:179407385-179407385 2:178542658-178542658 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.102630del (p.Lys34210_Val34211insTer) deletion Uncertain significance 223356 rs869312101 2:179398712-179398712 2:178533985-178533985 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.103408G>T (p.Glu34470Ter) SNV Uncertain significance 223357 rs769023413 2:179397934-179397934 2:178533207-178533207 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.106374+1del deletion Uncertain significance 223358 rs763404256 2:179394967-179394967 2:178530240-178530240 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.11311+4130dup duplication Uncertain significance 223359 rs768458450 2:179613716-179613717 2:178748989-178748990 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.325C>T (p.Arg109Ter) SNV Uncertain significance 223360 rs150954246 2:179665380-179665380 2:178800653-178800653 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.31762G>A (p.Val10588Ile) SNV Uncertain significance 223361 rs372371333 2:179556743-179556743 2:178692016-178692016 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.96892C>T (p.Gln32298Ter) SNV Uncertain significance 223362 rs201108270 2:179407808-179407808 2:178543081-178543081 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.11312-3950del deletion Uncertain significance 223363 rs774991940 2:179610598-179610598 2:178745871-178745871 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.263C>G (p.Ala88Gly) SNV Uncertain significance 222690 rs869025455 1:156084972-156084972 1:156115181-156115181 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.23386C>T (p.Arg7796Ter) SNV Uncertain significance 223348 rs748111134 2:179584983-179584983 2:178720256-178720256 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.31594G>T (p.Val10532Phe) SNV Uncertain significance 223349 rs763955552 2:179558336-179558336 2:178693609-178693609 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.39895+1G>T SNV Uncertain significance 223350 rs749931280 2:179514543-179514543 2:178649816-178649816 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.75123T>A (p.Tyr25041Ter) SNV Uncertain significance 223351 rs753526510 2:179435736-179435736 2:178571009-178571009 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.85008_85011del (p.Glu28338fs) deletion Uncertain significance 223352 rs869312100 2:179425848-179425851 2:178561121-178561124 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.57544+4A>G SNV Uncertain significance 223286 rs869312053 2:179462261-179462261 2:178597534-178597534 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.11311+3746C>G SNV Uncertain significance 223306 rs763408700 2:179614105-179614105 2:178749378-178749378 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.11311+5184_11311+5194dup duplication Uncertain significance 223332 rs869312088 2:179612656-179612657 2:178747929-178747930 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.21142C>T (p.Arg7048Ter) SNV Uncertain significance 223333 rs770579313 2:179588844-179588844 2:178724117-178724117 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.30803-2A>G SNV Uncertain significance 223334 rs869312089 2:179560998-179560998 2:178696271-178696271 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.32095+5G>A SNV Uncertain significance 223335 rs869312090 2:179553775-179553775 2:178689048-178689048 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.32554+1G>C SNV Uncertain significance 223336 rs376018437 2:179549632-179549632 2:178684905-178684905 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.45391del (p.Ile15131fs) deletion Uncertain significance 223337 rs869312091 2:179486054-179486054 2:178621327-178621327 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.67159del (p.Ile22386_Ile22387insTer) deletion Uncertain significance 223338 rs869312092 2:179444855-179444855 2:178580128-178580128 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.2494G>T (p.Ala832Ser) SNV Uncertain significance 223341 rs376133574 2:179649078-179649078 2:178784351-178784351 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.2841G>T (p.Ser947=) SNV Uncertain significance 223342 rs774074192 2:179648447-179648447 2:178783720-178783720 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.6355G>T (p.Glu2119Ter) SNV Uncertain significance 223343 rs869312098 2:179640236-179640236 2:178775509-178775509 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.9164-2A>T SNV Uncertain significance 223344 rs777369921 2:179632884-179632884 2:178768157-178768157 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.10592C>G (p.Ser3531Ter) SNV Uncertain significance 223345 rs767420661 2:179622355-179622355 2:178757628-178757628 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.11113del (p.Arg3705fs) deletion Uncertain significance 223346 rs746386040 2:179621090-179621090 2:178756363-178756363 DLT002 Dilated Cardiomyopathy ABCC9 NM_005691.3(ABCC9):c.3284G>A (p.Arg1095His) SNV Uncertain significance 222474 rs869025347 12:21997448-21997448 12:21844514-21844514 DLT002 Dilated Cardiomyopathy ABCC9 NM_005691.3(ABCC9):c.1985T>C (p.Leu662Pro) SNV Uncertain significance 222473 rs869025346 12:22035734-22035734 12:21882800-21882800 DLT002 Dilated Cardiomyopathy MYH6 NM_002471.3(MYH6):c.3133A>G (p.Lys1045Glu) SNV Uncertain significance 222716 rs869025474 14:23862239-23862239 14:23393030-23393030 DLT002 Dilated Cardiomyopathy MYH6 NM_002471.3(MYH6):c.1171C>A (p.Leu391Met) SNV Uncertain significance 222714 rs869025472 14:23870157-23870157 14:23400948-23400948 DLT002 Dilated Cardiomyopathy EMD NM_000117.2(EMD):c.23C>G (p.Ser8Trp) SNV Uncertain significance 222597 rs869025400 X:153607867-153607867 X:154379507-154379507 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.1245+3A>G SNV Uncertain significance 223251 rs757221300 2:179659646-179659646 2:178794919-178794919 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.9727C>T (p.Gln3243Ter) SNV Uncertain significance 223252 rs869312093 2:179629515-179629515 2:178764788-178764788 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.10799C>A (p.Ser3600Ter) SNV Uncertain significance 223253 rs374300381 2:179621404-179621404 2:178756677-178756677 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.10852C>T (p.Gln3618Ter) SNV Uncertain significance 223254 rs779064556 2:179621351-179621351 2:178756624-178756624 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.15776-1G>T SNV Uncertain significance 223255 rs869312094 2:179598245-179598245 2:178733518-178733518 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-55750G>A SNV Uncertain significance 222750 rs571563897 10:21157619-21157619 10:20868690-20868690 DLT002 Dilated Cardiomyopathy CTNNA3 NM_013266.4(CTNNA3):c.2430del (p.Ala811fs) deletion Uncertain significance 222540 rs869025379 10:67680346-67680346 10:65920588-65920588 DLT002 Dilated Cardiomyopathy CTNNA3 NM_013266.4(CTNNA3):c.2053A>G (p.Ser685Gly) SNV Uncertain significance 222539 rs199697536 10:67829172-67829172 10:66069414-66069414 DLT002 Dilated Cardiomyopathy CRYAB NM_001289808.2(CRYAB):c.31C>T (p.Arg11Cys) SNV Uncertain significance 222531 rs781902168 11:111782418-111782418 11:111911694-111911694 DLT002 Dilated Cardiomyopathy CRYAB NM_001289808.2(CRYAB):c.22C>T (p.Pro8Ser) SNV Uncertain significance 222530 rs782654756 11:111782427-111782427 11:111911703-111911703 DLT002 Dilated Cardiomyopathy CSRP3 NM_003476.5(CSRP3):c.49del (p.Val17fs) deletion Uncertain significance 222535 rs869025378 11:19213947-19213947 11:19192400-19192400 DLT002 Dilated Cardiomyopathy ILK NM_004517.4(ILK):c.734T>A (p.Phe245Tyr) SNV Uncertain significance 222653 rs869025438 11:6630748-6630748 11:6609517-6609517 DLT002 Dilated Cardiomyopathy MYL2 NM_000432.3(MYL2):c.262G>A (p.Glu88Lys) SNV Uncertain significance 222735 rs869025484 12:111352002-111352002 12:110914198-110914198 DLT002 Dilated Cardiomyopathy ABCC9 NM_020297.3(ABCC9):c.4637G>T (p.Arg1546Leu) SNV Uncertain significance 222475 rs773377070 12:21953991-21953991 12:21801057-21801057 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.98551C>T (p.Arg32851Ter) SNV Uncertain significance 223261 rs553821887 2:179404241-179404241 2:178539514-178539514 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.11311+1167del deletion Uncertain significance 223262 rs869312096 2:179616684-179616684 2:178751957-178751957 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.11311+4379dup duplication Uncertain significance 223263 rs771985828 2:179613466-179613467 2:178748739-178748740 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.11311+4429G>T SNV Uncertain significance 223264 rs372994805 2:179613422-179613422 2:178748695-178748695 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.11312-5174del deletion Uncertain significance 223265 rs869312097 2:179611822-179611822 2:178747095-178747095 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.52128del (p.Phe17376fs) deletion Uncertain significance 223257 rs869312095 2:179473610-179473610 2:178608883-178608883 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.11311+4663del deletion Uncertain significance 222870 rs781363456 2:179613188-179613188 2:178748461-178748461 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.80635C>T (p.Gln26879Ter) SNV Uncertain significance 223259 rs79926414 2:179430224-179430224 2:178565497-178565497 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.33418+1G>A SNV Uncertain significance 223272 rs746588865 2:179544980-179544980 2:178680253-178680253 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.27607G>A (p.Glu9203Lys) SNV Uncertain significance 223269 rs769097909 2:179577042-179577042 2:178712315-178712315 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.53881+5G>A SNV Uncertain significance 223283 rs753527304 2:179470136-179470136 2:178605409-178605409 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.745C>T (p.Arg249Cys) SNV Uncertain significance 390757 rs557142042 22:19885591-19885591 22:19898068-19898068 DLT002 Dilated Cardiomyopathy TAZ NM_000116.5(TAZ):c.*387C>T SNV Uncertain significance 368089 rs1057515819 X:153649730-153649730 X:154421391-154421391 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-10284A>G SNV Uncertain significance 391870 rs770416802 10:21112153-21112153 10:20823224-20823224 DLT002 Dilated Cardiomyopathy BAG3 NM_004281.3(BAG3):c.881G>A (p.Arg294His) SNV Uncertain significance 386339 rs151335530 10:121432140-121432140 10:119672628-119672628 DLT002 Dilated Cardiomyopathy TNNI3 NM_000363.5(TNNI3):c.194C>T (p.Ala65Val) SNV Uncertain significance 373938 rs1057518784 19:55667657-55667657 19:55156289-55156289 DLT002 Dilated Cardiomyopathy DMD NM_000109.4(DMD):c.4425G>A (p.Met1475Ile) SNV Uncertain significance 375863 rs765355046 X:32407687-32407687 X:32389570-32389570 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.440G>A (p.Arg147His) SNV Uncertain significance 378350 rs528843301 4:186429675-186429675 4:185508521-185508521 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.2(ANKRD1):c.-131C>G SNV Uncertain significance 301612 rs538475043 10:92680915-92680915 10:90921158-90921158 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.2(ANKRD1):c.*371T>G SNV Uncertain significance 301598 rs531523887 10:92672252-92672252 10:90912495-90912495 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.2(ANKRD1):c.*319A>G SNV Uncertain significance 301600 rs142439928 10:92672304-92672304 10:90912547-90912547 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.2(ANKRD1):c.*627A>G SNV Uncertain significance 301592 rs886047475 10:92671996-92671996 10:90912239-90912239 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.2(ANKRD1):c.*607C>A SNV Uncertain significance 301593 rs146219881 10:92672016-92672016 10:90912259-90912259 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.2(ANKRD1):c.*343A>G SNV Uncertain significance 301599 rs41286920 10:92672280-92672280 10:90912523-90912523 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.2(ANKRD1):c.909C>T (p.Phe303=) SNV Uncertain significance 301604 rs765093690 10:92672674-92672674 10:90912917-90912917 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.2(ANKRD1):c.-131C>T SNV Uncertain significance 301611 rs538475043 10:92680915-92680915 10:90921158-90921158 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.2(ANKRD1):c.*286C>T SNV Uncertain significance 301601 rs886047479 10:92672337-92672337 10:90912580-90912580 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.2(ANKRD1):c.55G>C (p.Glu19Gln) SNV Uncertain significance 301608 rs886047480 10:92680078-92680078 10:90920321-90920321 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.2(ANKRD1):c.3G>C (p.Met1Ile) SNV Uncertain significance 301609 rs188706671 10:92680782-92680782 10:90921025-90921025 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.2(ANKRD1):c.-102C>T SNV Uncertain significance 301610 rs549813663 10:92680886-92680886 10:90921129-90921129 DLT002 Dilated Cardiomyopathy FHL2 NM_001318895.3(FHL2):c.523A>C (p.Thr175Pro) SNV Uncertain significance 228690 rs200116659 2:105979907-105979907 2:105363450-105363450 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.258+1G>A SNV Uncertain significance 229045 rs139581346 10:21178773-21178773 10:20889844-20889844 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.2588C>G (p.Ser863Cys) SNV Uncertain significance 229046 rs150152361 10:21098758-21098758 10:20809829-20809829 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.877G>A (p.Glu293Lys) SNV Uncertain significance 228650 rs876657799 6:7565691-7565691 6:7565458-7565458 DLT002 Dilated Cardiomyopathy BAG3 NM_004281.4(BAG3):c.1118G>A (p.Cys373Tyr) SNV Uncertain significance 228454 rs876657745 10:121436184-121436184 10:119676672-119676672 DLT002 Dilated Cardiomyopathy VCL NM_014000.3(VCL):c.163G>T (p.Val55Phe) SNV Uncertain significance 229631 rs755441334 10:75758128-75758128 10:73998370-73998370 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-18547G>A SNV Uncertain significance 240646 rs45461595 10:21120416-21120416 10:20831487-20831487 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-56886G>C SNV Uncertain significance 240652 rs780036701 10:21158755-21158755 10:20869826-20869826 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.357+71783C>A SNV Uncertain significance 240647 rs150000482 10:21178818-21178818 10:20889889-20889889 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.357+64664G>A SNV Uncertain significance 240645 rs878854902 10:21185937-21185937 10:20897008-20897008 DLT002 Dilated Cardiomyopathy DSC2 NM_024422.6(DSC2):c.82G>T (p.Ala28Ser) SNV Uncertain significance 234988 rs139979318 18:28673594-28673594 18:31093631-31093631 DLT002 Dilated Cardiomyopathy FHL2 NM_201555.2(FHL2):c.191C>G (p.Ala64Gly) SNV Uncertain significance 242258 rs533310258 2:105990156-105990156 2:105373699-105373699 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.-124_*1634dup2853 duplication Uncertain significance 240913 4:186421814-186456712 4:185500660-185535558 DLT002 Dilated Cardiomyopathy ANK2 NM_001148.6(ANK2):c.7105G>T (p.Val2369Phe) SNV Uncertain significance 238587 rs758054052 4:114276879-114276879 4:113355723-113355723 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.836C>T (p.Thr279Met) SNV Uncertain significance 240917 rs150070443 4:186425698-186425698 4:185504544-185504544 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.778G>A (p.Val260Met) SNV Uncertain significance 240916 rs878854983 4:186427691-186427691 4:185506537-185506537 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.511G>A (p.Ala171Thr) SNV Uncertain significance 240915 rs878854982 4:186429604-186429604 4:185508450-185508450 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.727A>G (p.Ile243Val) SNV Uncertain significance 240651 rs746298728 10:21074762-21074762 10:20785833-20785833 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.850G>C (p.Val284Leu) SNV Uncertain significance 240656 rs201177571 22:19883029-19883029 22:19895506-19895506 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.656G>C (p.Gly219Ala) SNV Uncertain significance 240655 rs199510610 22:19898906-19898906 22:19911383-19911383 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1174T>C (p.Tyr392His) SNV Uncertain significance 263636 rs201971987 22:19868153-19868153 22:19880630-19880630 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.-124_330+?dup454 duplication Uncertain significance 254082 4:186444516-186456712 4:185523362-185535558 DLT002 Dilated Cardiomyopathy VCL NM_014000.2(VCL):c.1621C>G (p.Leu541Val) SNV Uncertain significance 263345 rs370229150 10:75855491-75855491 10:74095733-74095733 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1523G>A (p.Arg508His) SNV Likely benign 263535 rs201391000 22:19864680-19864680 22:19877157-19877157 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.957C>G (p.Val319=) SNV Likely benign 263587 rs371700934 22:19870977-19870977 22:19883454-19883454 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.529+4222A>T SNV Likely benign 240648 rs146673676 10:21097476-21097476 10:20808547-20808547 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.489T>C (p.Tyr163=) SNV Likely benign 227738 rs141153708 10:21158762-21158762 10:20869833-20869833 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.2775C>T (p.Pro925=) SNV Likely benign 227736 rs199887353 10:21076224-21076224 10:20787295-20787295 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.303A>G (p.Ala101=) SNV Likely benign 264127 rs200076623 22:19906454-19906454 22:19918931-19918931 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.697G>C (p.Val233Leu) SNV Likely benign 378351 rs143121072 4:186427772-186427772 4:185506618-185506618 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.398+9C>T SNV Likely benign 385332 rs761820729 4:186435415-186435415 4:185514261-185514261 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.732C>T (p.Asp244=) SNV Likely benign 392612 rs144946187 10:21074757-21074757 10:20785828-20785828 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.96C>T (p.Gly32=) SNV Likely benign 240659 rs767140410 22:19929231-19929231 22:19941708-19941708 DLT002 Dilated Cardiomyopathy MYPN NM_032578.4(MYPN):c.3886T>A (p.Ser1296Thr) SNV Likely benign 180452 rs199585352 10:69970135-69970135 10:68210378-68210378 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.994G>A (p.Val332Ile) SNV Likely benign 164758 rs150518045 10:21141488-21141488 10:20852559-20852559 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.1954A>C (p.Ile652Leu) SNV Likely benign 178095 rs200756166 10:21112145-21112145 10:20823216-20823216 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.240C>T (p.Ile80=) SNV Likely benign 164768 rs727503337 10:21178792-21178792 10:20889863-20889863 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-6561C>A SNV Likely benign 220981 rs11012351 10:21108430-21108430 10:20819501-20819501 DLT002 Dilated Cardiomyopathy TCAP NM_003673.3(TCAP):c.259C>T (p.Arg87Trp) SNV Likely benign 202102 rs777518512 17:37822117-37822117 17:39665864-39665864 DLT002 Dilated Cardiomyopathy FHL2 NM_001318895.3(FHL2):c.174C>T (p.Asp58=) SNV Likely benign 163492 rs141208906 2:105990173-105990173 2:105373716-105373716 DLT002 Dilated Cardiomyopathy MYOM1 NM_003803.4(MYOM1):c.1978C>G (p.Pro660Ala) SNV Likely benign 155822 rs201104206 18:3141984-3141984 18:3141986-3141986 DLT002 Dilated Cardiomyopathy CTNNA3 NM_013266.4(CTNNA3):c.2573T>C (p.Leu858Ser) SNV Likely benign 155780 rs41313840 10:67680203-67680203 10:65920445-65920445 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.952G>A (p.Ala318Thr) SNV Likely benign 66961 rs267607574 1:156105707-156105707 1:156135916-156135916 DLT002 Dilated Cardiomyopathy FHL2 NM_001318895.3(FHL2):c.462T>C (p.Tyr154=) SNV Likely benign 48324 rs397517960 2:105984066-105984066 2:105367609-105367609 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.2654C>T (p.Ser885Phe) SNV Likely benign 45496 rs143584663 10:21097546-21097546 10:20808617-20808617 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.1302C>G (p.Ile434Met) SNV Likely benign 45479 rs202112717 10:21129704-21129704 10:20840775-20840775 DLT002 Dilated Cardiomyopathy SCN5A NM_000335.4(SCN5A):c.5504T>C (p.Ile1835Thr) SNV Likely benign 39445 rs45563942 3:38592356-38592356 3:38550865-38550865 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.3(ANKRD1):c.*588A>C SNV Likely benign 880082 10:92672035-92672035 10:90912278-90912278 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.6(PDLIM3):c.417C>T (p.Ser139=) SNV Likely benign 719141 4:186429698-186429698 4:185508544-185508544 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.6(PDLIM3):c.537A>G (p.Glu179=) SNV Likely benign 744952 4:186429578-186429578 4:185508424-185508424 DLT002 Dilated Cardiomyopathy FHL2 NM_001318895.3(FHL2):c.156+9T>C SNV Likely benign 735942 2:106002809-106002809 2:105386352-105386352 DLT002 Dilated Cardiomyopathy FHL2 NM_001318895.3(FHL2):c.291C>T (p.Tyr97=) SNV Likely benign 752668 2:105990056-105990056 2:105373599-105373599 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-18647G>A SNV Likely benign 766291 10:21120516-21120516 10:20831587-20831587 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-67899C>T SNV Likely benign 698673 10:21169768-21169768 10:20880839-20880839 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1194C>T (p.Thr398=) SNV Likely benign 698857 22:19867783-19867783 22:19880260-19880260 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.858G>A (p.Arg286=) SNV Likely benign 700080 22:19883021-19883021 22:19895498-19895498 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.357+73457T>C SNV Likely benign 697578 10:21177144-21177144 10:20888215-20888215 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.6(PDLIM3):c.1032C>T (p.His344=) SNV Likely benign 706624 4:186423511-186423511 4:185502357-185502357 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.711C>T (p.Ile237=) SNV Likely benign 702535 10:21074778-21074778 10:20785849-20785849 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-6484G>A SNV Likely benign 702320 10:21108353-21108353 10:20819424-20819424 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.3(ANKRD1):c.*366G>A SNV Likely benign 880084 10:92672257-92672257 10:90912500-90912500 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.3(ANKRD1):c.*41T>G SNV Likely benign 877285 10:92672582-92672582 10:90912825-90912825 DLT002 Dilated Cardiomyopathy TGFB3 NM_003239.4(TGFB3):c.883G>C (p.Gly295Arg) SNV Likely benign 691733 14:76429702-76429702 14:75963359-75963359 DLT002 Dilated Cardiomyopathy FHL2 NM_001318895.3(FHL2):c.507C>T (p.Ile169=) SNV Likely benign 700171 2:105979923-105979923 2:105363466-105363466 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.6(PDLIM3):c.963C>T (p.Ala321=) SNV Likely benign 701062 4:186423580-186423580 4:185502426-185502426 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.6(PDLIM3):c.693G>A (p.Ser231=) SNV Likely benign 697143 4:186427776-186427776 4:185506622-185506622 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.504C>T (p.Cys168=) SNV Likely benign 696410 22:19903312-19903312 22:19915789-19915789 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.106342C>T (p.Arg35448Trp) SNV Likely benign 691740 2:179395000-179395000 2:178530273-178530273 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.50999G>A (p.Arg17000Lys) SNV Likely benign 691746 2:179475857-179475857 2:178611130-178611130 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.47495G>A (p.Arg15832Gln) SNV Likely benign 691747 2:179482583-179482583 2:178617856-178617856 DLT002 Dilated Cardiomyopathy RBM20 NM_001134363.3(RBM20):c.3523A>G (p.Thr1175Ala) SNV Likely benign 691726 10:112590890-112590890 10:110831132-110831132 DLT002 Dilated Cardiomyopathy MYPN NM_032578.3(MYPN):c.1876G>A (p.Asp626Asn) SNV Likely benign 691723 10:69926326-69926326 10:68166569-68166569 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1149C>T (p.Phe383=) SNV Likely benign 524927 rs768999643 22:19868178-19868178 22:19880655-19880655 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-56884C>T SNV Likely benign 524933 rs371105861 10:21158753-21158753 10:20869824-20869824 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.543C>T (p.Ala181=) SNV Likely benign 524932 rs367754522 22:19902785-19902785 22:19915262-19915262 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.357+64711C>T SNV Likely benign 524934 rs1465019438 10:21185890-21185890 10:20896961-20896961 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-18295T>C SNV Likely benign 524931 rs1308048675 10:21120164-21120164 10:20831235-20831235 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.357+64523G>C SNV Likely benign 524930 rs764290131 10:21186078-21186078 10:20897149-20897149 DLT002 Dilated Cardiomyopathy LAMA4 NM_001105206.3(LAMA4):c.824A>G (p.Lys275Arg) SNV Likely benign 541236 rs183711657 6:112508794-112508794 6:112187592-112187592 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.159C>T (p.Asp53=) SNV Likely benign 525143 rs781147581 4:186446260-186446260 4:185525106-185525106 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.657C>T (p.Tyr219=) SNV Likely benign 517956 rs202184399 10:21074832-21074832 10:20785903-20785903 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.375-8C>T SNV Likely benign 507782 rs180876844 22:19905748-19905748 22:19918225-19918225 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-56848C>T SNV Likely benign 454275 rs374344424 10:21158717-21158717 10:20869788-20869788 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-67844C>T SNV Likely benign 454273 rs377230358 10:21169713-21169713 10:20880784-20880784 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-10352C>T SNV Likely benign 454266 rs551329782 10:21112221-21112221 10:20823292-20823292 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-13542G>A SNV Likely benign 454265 rs778658096 10:21115411-21115411 10:20826482-20826482 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-39705A>G SNV Likely benign 454278 rs139610204 10:21141574-21141574 10:20852645-20852645 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.529+4165C>T SNV Likely benign 454271 rs780103943 10:21097533-21097533 10:20808604-20808604 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-18523C>A SNV Likely benign 454263 rs753190648 10:21120392-21120392 10:20831463-20831463 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.375T>C (p.Pro125=) SNV Likely benign 454476 rs372840074 4:186435447-186435447 4:185514293-185514293 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.762C>T (p.Arg254=) SNV Likely benign 454288 rs180876642 22:19885574-19885574 22:19898051-19898051 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1308C>T (p.Phe436=) SNV Likely benign 386526 rs190301927 22:19865928-19865928 22:19878405-19878405 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.585C>G (p.Pro195=) SNV Likely benign 387334 rs201760306 22:19902743-19902743 22:19915220-19915220 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.505G>A (p.Gly169Ser) SNV Likely benign 414277 rs138462062 22:19903311-19903311 22:19915788-19915788 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-6526G>A SNV Likely benign 417186 rs781677922 10:21108395-21108395 10:20819466-20819466 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.1078C>T (p.Leu360=) SNV Likely benign 413246 rs974220815 4:186423465-186423465 4:185502311-185502311 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.54A>G (p.Ser18=) SNV Likely benign 454479 rs768654855 4:186456535-186456535 4:185535381-185535381 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-2720G>T SNV Likely benign 454267 rs780056247 10:21104589-21104589 10:20815660-20815660 DLT002 Dilated Cardiomyopathy FHL2 NM_201555.2(FHL2):c.351C>T (p.Tyr117=) SNV Likely benign 454293 rs1553415161 2:105984177-105984177 2:105367720-105367720 DLT002 Dilated Cardiomyopathy FHL2 NM_201555.2(FHL2):c.33C>T (p.Asn11=) SNV Likely benign 454292 rs760104483 2:106002941-106002941 2:105386484-105386484 DLT002 Dilated Cardiomyopathy FHL2 NM_201555.2(FHL2):c.576G>A (p.Arg192=) SNV Likely benign 454295 rs747844229 2:105979854-105979854 2:105363397-105363397 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1077C>T (p.Asp359=) SNV Benign/Likely benign 414281 rs147383232 22:19870857-19870857 22:19883334-19883334 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1137G>C (p.Val379=) SNV Benign/Likely benign 509261 rs184640901 22:19868190-19868190 22:19880667-19880667 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.51C>T (p.Ser17=) SNV Benign/Likely benign 36479 rs11549668 1:156084760-156084760 1:156114969-156114969 DLT002 Dilated Cardiomyopathy MYBPC3 NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) SNV Benign/Likely benign 36610 rs11570112 11:47355475-47355475 11:47333924-47333924 DLT002 Dilated Cardiomyopathy LMNA NM_170707.4(LMNA):c.1157+16G>A SNV Benign/Likely benign 36474 rs534807 1:156105928-156105928 1:156136137-156136137 DLT002 Dilated Cardiomyopathy TAZ NM_000116.5(TAZ):c.383T>C (p.Phe128Ser) SNV Benign/Likely benign 42259 rs146934311 X:153642450-153642450 X:154414113-154414113 DLT002 Dilated Cardiomyopathy TAZ NM_000116.5(TAZ):c.873G>A (p.Gly291=) SNV Benign/Likely benign 42270 rs35902788 X:153649337-153649337 X:154420998-154420998 DLT002 Dilated Cardiomyopathy MYBPC3 NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) SNV Benign/Likely benign 42813 rs34580776 11:47367871-47367871 11:47346320-47346320 DLT002 Dilated Cardiomyopathy MYBPC3 NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val) SNV Benign/Likely benign 42627 rs3729952 11:47359046-47359046 11:47337495-47337495 DLT002 Dilated Cardiomyopathy MYBPC3 NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) SNV Benign/Likely benign 42652 rs35078470 11:47357479-47357479 11:47335928-47335928 DLT002 Dilated Cardiomyopathy RBM20 NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) SNV Benign/Likely benign 43971 rs189569984 10:112544125-112544125 10:110784367-110784367 DLT002 Dilated Cardiomyopathy MYH7 NM_000257.4(MYH7):c.5562G>A (p.Thr1854=) SNV Benign/Likely benign 43075 rs368706722 14:23883309-23883309 14:23414100-23414100 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.120A>G (p.Glu40=) SNV Benign/Likely benign 45478 rs397517203 10:21185920-21185920 10:20896991-20896991 DLT002 Dilated Cardiomyopathy LDB3 NM_007078.3(LDB3):c.1460G>A (p.Arg487His) SNV Benign/Likely benign 45520 rs146265188 10:88476312-88476312 10:86716555-86716555 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.3(ANKRD1):c.148G>C (p.Ala50Pro) SNV Benign/Likely benign 45625 rs28730751 10:92679985-92679985 10:90920228-90920228 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.3(ANKRD1):c.196C>G (p.Arg66Gly) SNV Benign/Likely benign 45627 rs397517249 10:92679937-92679937 10:90920180-90920180 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.2482A>G (p.Ile828Val) SNV Benign/Likely benign 45494 rs143930021 10:21101734-21101734 10:20812805-20812805 DLT002 Dilated Cardiomyopathy CSRP3 NM_003476.5(CSRP3):c.336G>A (p.Ala112=) SNV Benign/Likely benign 44696 rs13451 11:19207841-19207841 11:19186294-19186294 DLT002 Dilated Cardiomyopathy DSP NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) SNV Benign/Likely benign 44908 rs113902911 6:7580878-7580878 6:7580645-7580645 DLT002 Dilated Cardiomyopathy DSG2 NM_001943.5(DSG2):c.473T>G (p.Val158Gly) SNV Benign/Likely benign 44319 rs191143292 18:29101156-29101156 18:31521193-31521193 DLT002 Dilated Cardiomyopathy DES NM_001927.4(DES):c.1375G>A (p.Val459Ile) SNV Benign/Likely benign 44252 rs73991549 2:220290674-220290674 2:219425952-219425952 DLT002 Dilated Cardiomyopathy LAMA4 NM_001105206.3(LAMA4):c.2810A>G (p.Glu937Gly) SNV Benign/Likely benign 44366 rs35605307 6:112462563-112462563 6:112141361-112141361 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.3(ANKRD1):c.319G>T (p.Val107Leu) SNV Benign/Likely benign 45630 rs114435632 10:92678914-92678914 10:90919157-90919157 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr) SNV Benign/Likely benign 46982 rs144668626 2:179486376-179486376 2:178621649-178621649 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.13859G>A (p.Gly4620Asp) SNV Benign/Likely benign 47841 rs55857742 2:179604101-179604101 2:178739374-178739374 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu) SNV Benign/Likely benign 47162 rs72646843 2:179455962-179455962 2:178591235-178591235 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr) SNV Benign/Likely benign 47334 rs138787974 2:179639711-179639711 2:178774984-178774984 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) SNV Benign/Likely benign 47276 rs115658240 2:179441119-179441119 2:178576392-178576392 DLT002 Dilated Cardiomyopathy FHL2 NM_001318895.3(FHL2):c.85G>A (p.Val29Met) SNV Benign/Likely benign 48333 rs56284940 2:106002889-106002889 2:105386432-105386432 DLT002 Dilated Cardiomyopathy FHL2 NM_001318895.3(FHL2):c.192C>T (p.Ala64=) SNV Benign/Likely benign 48321 rs199943518 2:105990155-105990155 2:105373698-105373698 DLT002 Dilated Cardiomyopathy FHL2 NM_001318895.3(FHL2):c.321C>T (p.Thr107=) SNV Benign/Likely benign 48322 rs139644436 2:105990026-105990026 2:105373569-105373569 DLT002 Dilated Cardiomyopathy FKRP NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) SNV Benign/Likely benign 129057 rs148206382 19:47259134-47259134 19:46755877-46755877 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.2(ANKRD1):c.346-15T>A SNV Benign/Likely benign 136403 rs11595794 10:92678744-92678744 10:90918987-90918987 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.2(ANKRD1):c.-17A>G SNV Benign/Likely benign 136404 rs79341122 10:92680801-92680801 10:90921044-90921044 DLT002 Dilated Cardiomyopathy DMD NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) SNV Benign/Likely benign 94510 rs72468681 X:32509625-32509625 X:32491508-32491508 DLT002 Dilated Cardiomyopathy DMD NM_004006.3(DMD):c.3406A>T (p.Thr1136Ser) SNV Benign/Likely benign 94587 rs3827462 X:32481582-32481582 X:32463465-32463465 DLT002 Dilated Cardiomyopathy DMD NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu) SNV Benign/Likely benign 94856 rs141392048 X:31222203-31222203 X:31204086-31204086 DLT002 Dilated Cardiomyopathy TAZ NM_000116.5(TAZ):c.646+14C>T SNV Benign/Likely benign 139390 rs191527230 X:153648447-153648447 X:154420108-154420108 DLT002 Dilated Cardiomyopathy FHL2 NM_001318895.3(FHL2):c.109G>T (p.Ala37Ser) SNV Benign/Likely benign 178038 rs74575749 2:106002865-106002865 2:105386408-105386408 DLT002 Dilated Cardiomyopathy KCNJ5 NM_000890.5(KCNJ5):c.121C>T (p.Arg41Cys) SNV Benign/Likely benign 188315 rs115012103 11:128781289-128781289 11:128911394-128911394 DLT002 Dilated Cardiomyopathy AKAP9 NM_005751.4(AKAP9):c.11273G>A (p.Arg3758His) SNV Benign/Likely benign 191531 rs141856443 7:91732083-91732083 7:92102769-92102769 DLT002 Dilated Cardiomyopathy SNTA1 NM_003098.2(SNTA1):c.317G>A (p.Arg106Gln) SNV Benign/Likely benign 191576 rs75025585 20:32026826-32026826 20:33439020-33439020 DLT002 Dilated Cardiomyopathy ANK2 NM_001148.6(ANK2):c.9454A>G (p.Thr3152Ala) SNV Benign/Likely benign 191562 rs61741040 4:114279228-114279228 4:113358072-113358072 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.2(ANKRD1):c.-34C>T SNV Benign/Likely benign 201662 rs114144205 10:92680818-92680818 10:90921061-90921061 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-1038T>C SNV Benign/Likely benign 201899 rs144815863 10:21102907-21102907 10:20813978-20813978 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.696C>T (p.Asp232=) SNV Benign/Likely benign 201947 rs148256486 4:186427773-186427773 4:185506619-185506619 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.60C>A (p.Gly20=) SNV Benign/Likely benign 201951 rs113792127 4:186456529-186456529 4:185535375-185535375 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.29C>T (p.Pro10Leu) SNV Benign/Likely benign 201950 rs146768859 4:186456560-186456560 4:185535406-185535406 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.1728T>C (p.Asp576=) SNV Benign/Likely benign 178097 rs1528182 10:21117507-21117507 10:20828578-20828578 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.191A>G (p.Lys64Arg) SNV Benign/Likely benign 164769 rs71578975 10:21178841-21178841 10:20889912-20889912 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.2820C>T (p.His940=) SNV Benign/Likely benign 164735 rs532565487 10:21076179-21076179 10:20787250-20787250 DLT002 Dilated Cardiomyopathy TTN NM_001267550.2(TTN):c.13976A>G (p.Tyr4659Cys) SNV Benign/Likely benign 166228 rs34706803 2:179603984-179603984 2:178739257-178739257 DLT002 Dilated Cardiomyopathy PSEN2 NM_000447.3(PSEN2):c.149A>G (p.Gln50Arg) SNV Benign/Likely benign 180476 rs143501870 1:227071413-227071413 1:226883712-226883712 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.529-6C>T SNV Benign/Likely benign 390224 rs116054286 22:19902805-19902805 22:19915282-19915282 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.816C>T (p.Gly272=) SNV Benign/Likely benign 392163 rs144584524 22:19883063-19883063 22:19895540-19895540 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1509G>A (p.Glu503=) SNV Benign/Likely benign 389754 rs200619889 22:19864694-19864694 22:19877171-19877171 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.1962+7A>G SNV Benign/Likely benign 378265 rs371630900 10:21112130-21112130 10:20823201-20823201 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-13499C>G SNV Benign/Likely benign 381915 rs188529864 10:21115368-21115368 10:20826439-20826439 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.2(ANKRD1):c.108T>C (p.Ala36=) SNV Benign/Likely benign 379748 rs145211719 10:92680025-92680025 10:90920268-90920268 DLT002 Dilated Cardiomyopathy TAZ NM_000116.5(TAZ):c.675G>A (p.Pro225=) SNV Benign/Likely benign 368088 rs201046790 X:153648579-153648579 X:154420240-154420240 DLT002 Dilated Cardiomyopathy TAZ NM_000116.5(TAZ):c.*396C>T SNV Benign/Likely benign 368090 rs144283894 X:153649739-153649739 X:154421400-154421400 DLT002 Dilated Cardiomyopathy TAZ NM_000116.5(TAZ):c.-88G>C SNV Benign/Likely benign 368086 rs113130344 X:153640093-153640093 X:154411756-154411756 DLT002 Dilated Cardiomyopathy TAZ NM_000116.5(TAZ):c.*560G>A SNV Benign/Likely benign 368092 rs782808430 X:153649903-153649903 X:154421564-154421564 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.462C>T (p.Tyr154=) SNV Benign/Likely benign 263667 rs182857388 22:19903354-19903354 22:19915831-19915831 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.763G>C (p.Gly255Arg) SNV Benign/Likely benign 264489 rs76079250 22:19885573-19885573 22:19898050-19898050 DLT002 Dilated Cardiomyopathy GAA NM_000152.5(GAA):c.368G>A (p.Gly123Glu) SNV Benign/Likely benign 283495 rs138034915 17:78078753-78078753 17:80104954-80104954 DLT002 Dilated Cardiomyopathy GAA NM_000152.5(GAA):c.1343G>C (p.Ser448Thr) SNV Benign/Likely benign 283498 rs145712232 17:78083760-78083760 17:80109961-80109961 DLT002 Dilated Cardiomyopathy GAA NM_000152.5(GAA):c.1285C>G (p.Gln429Glu) SNV Benign/Likely benign 291064 rs528369909 17:78082586-78082586 17:80108787-80108787 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.2054C>T (p.Ala685Val) SNV Benign/Likely benign 227732 rs146218038 10:21108354-21108354 10:20819425-20819425 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.993C>A (p.Gly331=) SNV Benign/Likely benign 227013 rs139493914 4:186423550-186423550 4:185502396-185502396 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.195G>A (p.Ala65=) SNV Benign/Likely benign 227844 rs148570356 4:186446224-186446224 4:185525070-185525070 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.246-9_246-5del short repeat Benign/Likely benign 240914 rs765292127 4:186444605-186444609 4:185523451-185523455 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.933C>T (p.Thr311=) SNV Benign/Likely benign 240658 rs187065627 22:19882946-19882946 22:19895423-19895423 DLT002 Dilated Cardiomyopathy FLNC NM_001458.4(FLNC):c.7947C>T (p.Phe2649=) SNV Benign/Likely benign 258153 rs368849358 7:128498228-128498228 7:128858174-128858174 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1150G>A (p.Gly384Ser) SNV Benign 263784 rs192869629 22:19868177-19868177 22:19880654-19880654 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.903C>A (p.Thr301=) SNV Benign 240657 rs35695986 22:19882976-19882976 22:19895453-19895453 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.110A>T (p.Gln37Leu) SNV Benign 240653 rs148092370 22:19918615-19918615 22:19931092-19931092 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1233C>T (p.Ser411=) SNV Benign 240654 rs35099271 22:19867744-19867744 22:19880221-19880221 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1099C>T (p.Leu367=) SNV Benign 263358 rs35544159 22:19868228-19868228 22:19880705-19880705 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.2(ANKRD1):c.-145T>C SNV Benign 301613 rs10881855 10:92680929-92680929 10:90921172-90921172 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.2(ANKRD1):c.*59A>G SNV Benign 301603 rs3939 10:92672564-92672564 10:90912807-90912807 DLT002 Dilated Cardiomyopathy TAZ NM_000116.5(TAZ):c.*470= SNV Benign 368091 rs743547 X:153649813-153649813 X:154421474-154421474 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.526G>C (p.Glu176Gln) SNV Benign 386317 rs61736929 22:19903290-19903290 22:19915767-19915767 DLT002 Dilated Cardiomyopathy JUP NM_002230.4(JUP):c.527G>A (p.Arg176Gln) SNV Benign 163725 rs144171604 17:39925401-39925401 17:41769149-41769149 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.1450-9T>G SNV Benign 164752 rs45628140 10:21120521-21120521 10:20831592-20831592 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.1008+4C>T SNV Benign 164757 rs71534253 10:21141470-21141470 10:20852541-20852541 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.624C>T (p.Pro208=) SNV Benign 164761 rs111854914 10:21157653-21157653 10:20868724-20868724 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.259-8del deletion Benign 179196 rs57918610 10:21177144-21177144 10:20888215-20888215 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.2685C>T (p.Asp895=) SNV Benign 178093 rs140245727 10:21097515-21097515 10:20808586-20808586 DLT002 Dilated Cardiomyopathy AKAP9 NM_005751.4(AKAP9):c.1372G>C (p.Ala458Pro) SNV Benign 191551 rs143894795 7:91630603-91630603 7:92001289-92001289 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.2149-5G>A SNV Benign 138509 rs71578956 10:21104651-21104651 10:20815722-20815722 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.162C>T (p.Gly54=) SNV Benign 138668 rs112661328 4:186446257-186446257 4:185525103-185525103 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.387G>A (p.Pro129=) SNV Benign 138669 rs138670107 4:186435435-186435435 4:185514281-185514281 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.678G>A (p.Ser226=) SNV Benign 138671 rs34943562 4:186427791-186427791 4:185506637-185506637 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.831G>A (p.Pro277=) SNV Benign 138672 rs61734674 4:186425703-186425703 4:185504549-185504549 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.849C>T (p.Gly283=) SNV Benign 138673 rs61734675 4:186425685-186425685 4:185504531-185504531 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.42C>T (p.Gly14=) SNV Benign 138678 rs116775669 4:186456547-186456547 4:185535393-185535393 DLT002 Dilated Cardiomyopathy KCNH2 NM_172057.2(KCNH2):c.2113C>T (p.Leu705Phe) SNV Benign 67473 rs199473025 7:150644435-150644435 7:150947347-150947347 DLT002 Dilated Cardiomyopathy FHL2 NM_001318895.3(FHL2):c.530G>A (p.Arg177Gln) SNV Benign 48325 rs113188481 2:105979900-105979900 2:105363443-105363443 DLT002 Dilated Cardiomyopathy FHL2 NM_001318895.3(FHL2):c.678C>T (p.Asn226=) SNV Benign 48326 rs137869171 2:105979752-105979752 2:105363295-105363295 DLT002 Dilated Cardiomyopathy FHL2 NM_001318895.3(FHL2):c.689-10C>G SNV Benign 48328 rs115841332 2:105977901-105977901 2:105361444-105361444 DLT002 Dilated Cardiomyopathy FHL2 NM_001318895.3(FHL2):c.120C>T (p.Cys40=) SNV Benign 48320 rs11537578 2:106002854-106002854 2:105386397-105386397 DLT002 Dilated Cardiomyopathy ANKRD1 NM_014391.3(ANKRD1):c.348G>A (p.Thr116=) SNV Benign 45633 rs137914723 10:92678727-92678727 10:90918970-90918970 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.259-16dup duplication Benign 45495 rs57918610 10:21177143-21177144 10:20888214-20888215 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.656C>A (p.Ala219Asp) SNV Benign 45500 rs2296610 10:21157621-21157621 10:20868692-20868692 DLT002 Dilated Cardiomyopathy DTNA NM_032978.7(DTNA):c.1348C>A (p.Pro450Thr) SNV Benign 46411 rs77320474 18:32431798-32431798 18:34851834-34851834 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.109T>C (p.Leu37=) SNV Benign 45473 rs140734883 10:21185931-21185931 10:20897002-20897002 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.1117-6T>G SNV Benign 45474 rs71578938 10:21134303-21134303 10:20845374-20845374 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.11C>T (p.Pro4Leu) SNV Benign 45476 rs114918858 10:21186124-21186124 10:20897195-20897195 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.2182A>G (p.Thr728Ala) SNV Benign 45493 rs71535732 10:21104613-21104613 10:20815684-20815684 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.1861A>G (p.Ile621Val) SNV Benign 45487 rs79718972 10:21115384-21115384 10:20826455-20826455 DLT002 Dilated Cardiomyopathy NEBL NM_006393.3(NEBL):c.2057T>C (p.Val686Ala) SNV Benign 45490 rs74120667 10:21106620-21106620 10:20817691-20817691 DLT002 Dilated Cardiomyopathy SOS1 NM_005633.3(SOS1):c.2122G>A (p.Ala708Thr) SNV Benign 40697 rs140811086 2:39240646-39240646 2:39013505-39013505 DLT002 Dilated Cardiomyopathy PTPN11 NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) SNV Benign 40570 rs148176616 12:112940006-112940006 12:112502202-112502202 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.6(PDLIM3):c.399-4A>G SNV Benign 702460 4:186429720-186429720 4:185508566-185508566 DLT002 Dilated Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.68-5C>T SNV Benign 810755 1:201338978-201338978 1:201369850-201369850 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.379G>A (p.Val127Met) SNV Benign 31838 rs11944325 4:186435443-186435443 4:185514289-185514289 DLT002 Dilated Cardiomyopathy PDLIM3 NM_014476.5(PDLIM3):c.734C>T (p.Thr245Ile) SNV Benign 31839 rs62347360 4:186427735-186427735 4:185506581-185506581 DLT002 Dilated Cardiomyopathy FHL2 NM_201555.2(FHL2):c.402G>C (p.Gln134His) SNV Benign 580581 rs199585402 2:105984126-105984126 2:105367669-105367669 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.529+2869del deletion Benign 696373 10:21098829-21098829 10:20809900-20809900 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-39620C>T SNV Benign 700783 10:21141489-21141489 10:20852560-20852560 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.1461T>C (p.Tyr487=) SNV Benign 454281 rs376363162 22:19864742-19864742 22:19877219-19877219 DLT002 Dilated Cardiomyopathy TXNRD2 NM_006440.5(TXNRD2):c.210C>T (p.Tyr70=) SNV Benign 454283 rs186462665 22:19907085-19907085 22:19919562-19919562 DLT002 Dilated Cardiomyopathy FHL2 NM_201555.2(FHL2):c.108C>T (p.Phe36=) SNV Benign 454289 rs201189319 2:106002866-106002866 2:105386409-105386409 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-56791T>C SNV Benign 417188 rs185873503 10:21158660-21158660 10:20869731-20869731 DLT002 Dilated Cardiomyopathy CALR3 NM_145046.4(CALR3):c.1067G>T (p.Arg356Leu) SNV Benign 416237 rs140290452 19:16590030-16590030 19:16479219-16479219 DLT002 Dilated Cardiomyopathy NEBL NM_213569.2(NEBL):c.358-13539C>A SNV Benign 524929 rs146471913 10:21115408-21115408 10:20826479-20826479 DLT002 Dilated Cardiomyopathy SCN5A NM_198056.2(SCN5A):c.1076C>A (p.Ala359Asp) SNV not provided 440929 rs1553704925 3:38648224-38648224 3:38606733-38606733 DLT002 Dilated Cardiomyopathy ACTN2 NM_001103.3(ACTN2):c.431A>T (p.Gln144Leu) SNV not provided 684560 1:236883474-236883474 1:236720174-236720174 DLT002 Dilated Cardiomyopathy SCN5A NM_000335.4(SCN5A):c.6010C>G (p.Pro2004Ala) SNV not provided 68023 rs199473337 3:38591850-38591850 3:38550359-38550359 DLT002 Dilated Cardiomyopathy SCN5A NM_000335.4(SCN5A):c.4557C>G (p.Phe1519Leu) SNV not provided 67908 rs199473642 3:38596023-38596023 3:38554532-38554532 DLT002 Dilated Cardiomyopathy ASCC1 NM_001198800.3(ASCC1):c.626+1G>A SNV Pathogenic 619021 10:73921295-73921295 10:72161537-72161537 DST002 Distal Arthrogryposis MYOD1 NM_002478.5(MYOD1):c.557dup (p.Arg188fs) duplication Pathogenic 631486 11:17741881-17741882 11:17720334-17720335 DST002 Distal Arthrogryposis PIEZO2 NM_022068.3(PIEZO2):c.1384C>T (p.Arg462Ter) SNV Pathogenic 632546 rs1568069621 18:10797515-10797515 18:10797517-10797517 DST002 Distal Arthrogryposis RYR1 NM_000540.2(RYR1):c.10620C>G (p.Tyr3540Ter) SNV Pathogenic 433177 rs758247804 19:39016136-39016136 19:38525496-38525496 DST002 Distal Arthrogryposis ASPM NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter) SNV Pathogenic 692298 1:197097693-197097693 1:197128563-197128563 DST002 Distal Arthrogryposis ACTA1 NM_001100.4(ACTA1):c.739G>A (p.Gly247Arg) SNV Pathogenic 692271 1:229567810-229567810 1:229432063-229432063 DST002 Distal Arthrogryposis ADSS1 NM_152328.4(ADSS1):c.741del (p.Lys248fs) deletion Pathogenic 692295 14:105207522-105207522 14:104741185-104741185 DST002 Distal Arthrogryposis CNTNAP1 NM_003632.3(CNTNAP1):c.69C>G (p.Tyr23Ter) SNV Pathogenic 692274 17:40835840-40835840 17:42683822-42683822 DST002 Distal Arthrogryposis RYR1 NM_000540.3(RYR1):c.2500_2501dup (p.Pro836fs) duplication Pathogenic 692286 19:38951153-38951154 19:38460513-38460514 DST002 Distal Arthrogryposis RYR1 NM_000540.3(RYR1):c.5618del (p.Glu1873fs) deletion Pathogenic 692288 19:38979887-38979887 19:38489247-38489247 DST002 Distal Arthrogryposis RYR1 NM_000540.3(RYR1):c.14647-15_14649del deletion Pathogenic 692285 19:39075562-39075579 19:38584922-38584939 DST002 Distal Arthrogryposis TNNI2 NM_003282.4(TNNI2):c.466C>T (p.Arg156Ter) SNV Pathogenic 12436 rs104894312 11:1862698-1862698 11:1841468-1841468 DST002 Distal Arthrogryposis PIEZO2 NM_022068.3(PIEZO2):c.8057G>A (p.Arg2686His) SNV Pathogenic 137629 rs587777450 18:10671726-10671726 18:10671729-10671729 DST002 Distal Arthrogryposis ADGRG6 NM_198569.3(ADGRG6):c.19C>T (p.Arg7Ter) SNV Pathogenic 192347 rs749355583 6:142630697-142630697 6:142309560-142309560 DST002 Distal Arthrogryposis ADGRG6 NM_198569.3(ADGRG6):c.2144dup (p.Gln716fs) duplication Pathogenic 192348 rs793888524 6:142726839-142726840 6:142405702-142405703 DST002 Distal Arthrogryposis ADGRG6 NM_198569.3(ADGRG6):c.2306T>A (p.Val769Glu) SNV Pathogenic 192349 rs793888525 6:142729324-142729324 6:142408187-142408187 DST002 Distal Arthrogryposis PIEZO2 NM_022068.3(PIEZO2):c.8175_8177AGA[2] (p.Glu2727del) short repeat Pathogenic 235839 rs1555621138 18:10671600-10671602 18:10671603-10671605 DST002 Distal Arthrogryposis ASPM NM_018136.5(ASPM):c.3082+1G>C SNV Pathogenic/Likely pathogenic 280518 rs886041709 1:197094175-197094175 1:197125045-197125045 DST002 Distal Arthrogryposis USH2A NM_007123.5(USH2A):c.2299del (p.Glu767fs) deletion Pathogenic/Likely pathogenic 2351 rs80338903 1:216420437-216420437 1:216247095-216247095 DST002 Distal Arthrogryposis RYR1 NM_000540.3(RYR1):c.1835C>A (p.Ala612Asp) SNV Likely pathogenic 692290 19:38948180-38948180 19:38457540-38457540 DST002 Distal Arthrogryposis RYR1 NM_000540.3(RYR1):c.2167G>A (p.Gly723Arg) SNV Likely pathogenic 692284 19:38948932-38948932 19:38458292-38458292 DST002 Distal Arthrogryposis MYH3 NM_002470.4(MYH3):c.1504T>G (p.Tyr502Asp) SNV Likely pathogenic 211550 rs797045727 17:10546220-10546220 17:10642903-10642903 DST002 Distal Arthrogryposis SEPSECS NM_016955.4(SEPSECS):c.388+5G>A SNV Likely pathogenic 374085 rs1057518887 4:25158473-25158473 4:25156851-25156851 DST002 Distal Arthrogryposis ATP2B3 NM_001001344.2(ATP2B3):c.197C>T (p.Ser66Leu) SNV Likely pathogenic 692299 X:152801902-152801902 X:153536444-153536444 DST002 Distal Arthrogryposis MYLPF NM_013292.5(MYLPF):c.98C>T (p.Ala33Val) SNV Likely pathogenic 916688 16:30387467-30387467 16:30376146-30376146 DST002 Distal Arthrogryposis MYLPF NM_013292.5(MYLPF):c.469T>C (p.Cys157Arg) SNV Likely pathogenic 916686 16:30389180-30389180 16:30377859-30377859 DST002 Distal Arthrogryposis MYLPF NM_013292.5(MYLPF):c.470G>T (p.Cys157Phe) SNV Likely pathogenic 916685 16:30389181-30389181 16:30377860-30377860 DST002 Distal Arthrogryposis MYLPF NM_013292.5(MYLPF):c.487G>A (p.Gly163Ser) SNV Likely pathogenic 916687 16:30389198-30389198 16:30377877-30377877 DST002 Distal Arthrogryposis RYR1 NM_000540.3(RYR1):c.7298T>C (p.Leu2433Pro) SNV Likely pathogenic 692292 19:38990631-38990631 19:38499991-38499991 DST002 Distal Arthrogryposis RYR1 NM_000540.3(RYR1):c.8024C>A (p.Thr2675Lys) SNV Likely pathogenic 692287 19:38994957-38994957 19:38504317-38504317 DST002 Distal Arthrogryposis RYR1 NM_000540.3(RYR1):c.10018G>A (p.Val3340Met) SNV Likely pathogenic 692289 19:39008331-39008331 19:38517691-38517691 DST002 Distal Arthrogryposis RYR1 NM_000540.3(RYR1):c.13998G>A (p.Lys4666=) SNV Likely pathogenic 692291 19:39062910-39062910 19:38572270-38572270 DST002 Distal Arthrogryposis CNTNAP1 NM_003632.3(CNTNAP1):c.1906G>A (p.Val636Met) SNV Likely pathogenic 692275 17:40842807-40842807 17:42690789-42690789 DST002 Distal Arthrogryposis SCN4A NM_000334.4(SCN4A):c.2018T>C (p.Leu673Pro) SNV Likely pathogenic 692293 17:62036626-62036626 17:63959266-63959266 DST002 Distal Arthrogryposis PIEZO2 NM_022068.3(PIEZO2):c.911A>G (p.Tyr304Cys) SNV Likely pathogenic 692282 18:10855357-10855357 18:10855359-10855359 DST002 Distal Arthrogryposis LGI4 NM_139284.3(LGI4):c.1031T>A (p.Leu344Gln) SNV Likely pathogenic 692278 19:35617442-35617442 19:35126538-35126538 DST002 Distal Arthrogryposis LGI4 NM_139284.3(LGI4):c.504G>C (p.Trp168Cys) SNV Likely pathogenic 692277 19:35622414-35622414 19:35131510-35131510 DST002 Distal Arthrogryposis EARS2 NM_001083614.2(EARS2):c.1277_1279dup (p.Arg427_Pro428insPro) duplication Likely pathogenic 692301 16:23540895-23540896 16:23529574-23529575 DST002 Distal Arthrogryposis EARS2 NM_001083614.2(EARS2):c.814G>A (p.Ala272Thr) SNV Likely pathogenic 692300 16:23546353-23546353 16:23535032-23535032 DST002 Distal Arthrogryposis NALCN NM_052867.4(NALCN):c.1783G>T (p.Val595Phe) SNV Likely pathogenic 692280 13:101828707-101828707 13:101176356-101176356 DST002 Distal Arthrogryposis NALCN NM_052867.4(NALCN):c.950T>G (p.Phe317Cys) SNV Likely pathogenic 692279 13:101944438-101944438 13:101292087-101292087 DST002 Distal Arthrogryposis NALCN NM_052867.4(NALCN):c.191A>G (p.Tyr64Cys) SNV Likely pathogenic 692281 13:102047634-102047634 13:101395283-101395283 DST002 Distal Arthrogryposis RAPSN NM_005055.5(RAPSN):c.794C>T (p.Ala265Val) SNV Likely pathogenic 692283 11:47463281-47463281 11:47441729-47441729 DST002 Distal Arthrogryposis BICD2 NM_001003800.2(BICD2):c.1636_1638del (p.Asn546del) deletion Likely pathogenic 422408 rs1064795760 9:95481289-95481291 9:92719007-92719009 DST002 Distal Arthrogryposis GBE1 NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp) SNV Likely pathogenic 425301 rs552094593 3:81586172-81586172 3:81537021-81537021 DST002 Distal Arthrogryposis RYR1 NM_000540.2(RYR1):c.3224G>A (p.Arg1075Gln) SNV Likely pathogenic 433176 rs749040743 19:38958295-38958295 19:38467655-38467655 DST002 Distal Arthrogryposis SCN8A NM_001330260.2(SCN8A):c.719T>C (p.Ile240Thr) SNV Likely pathogenic 692305 12:52093366-52093366 12:51699582-51699582 DST002 Distal Arthrogryposis GLDN NM_181789.4(GLDN):c.1428C>A (p.Phe476Leu) SNV Likely pathogenic 452116 rs750803388 15:51696723-51696723 15:51404526-51404526 DST002 Distal Arthrogryposis KLHL7 NM_001031710.3(KLHL7):c.618+1G>A SNV Likely pathogenic 487514 rs1554289078 7:23180564-23180564 7:23140945-23140945 DST002 Distal Arthrogryposis CHRND NM_000751.3(CHRND):c.452G>C (p.Cys151Ser) SNV Likely pathogenic 692273 2:233393309-233393309 2:232528599-232528599 DST002 Distal Arthrogryposis CHRNG NM_005199.5(CHRNG):c.710_711delinsAA (p.Ile237Lys) indel Likely pathogenic 692272 2:233407697-233407698 2:232542987-232542988 DST002 Distal Arthrogryposis KIAA1109 NM_015312.3(KIAA1109):c.3926G>A (p.Arg1309Gln) SNV Likely pathogenic 692318 4:123160763-123160763 4:122239608-122239608 DST002 Distal Arthrogryposis KIAA1109 NM_015312.3(KIAA1109):c.11890T>C (p.Tyr3964His) SNV Likely pathogenic 692319 4:123257388-123257388 4:122336233-122336233 DST002 Distal Arthrogryposis ALDH5A1 NM_001080.3(ALDH5A1):c.814del (p.Cys272fs) deletion Likely pathogenic 692306 6:24515480-24515480 6:24515252-24515252 DST002 Distal Arthrogryposis ASAH1 NM_177924.5(ASAH1):c.491G>T (p.Gly164Val) SNV Likely pathogenic 692297 8:17920706-17920706 8:18063197-18063197 DST002 Distal Arthrogryposis FZD3 NM_017412.4(FZD3):c.1616dup (p.Asp539fs) duplication Likely pathogenic 632606 rs1563406024 8:28413316-28413317 8:28555799-28555800 DST002 Distal Arthrogryposis MYBPC1 NM_002465.4(MYBPC1):c.1678G>C (p.Val560Leu) SNV Likely pathogenic 523451 rs1555242493 12:102046937-102046937 12:101653159-101653159 DST002 Distal Arthrogryposis RYR1 NM_000540.2(RYR1):c.1990G>C (p.Glu664Gln) SNV Likely pathogenic 523378 rs1555769818 19:38948755-38948755 19:38458115-38458115 DST002 Distal Arthrogryposis RYR1 NM_000540.2(RYR1):c.9850T>C (p.Trp3284Arg) SNV Likely pathogenic 523379 rs1555788577 19:39008163-39008163 19:38517523-38517523 DST002 Distal Arthrogryposis ATP1A2 NM_000702.4(ATP1A2):c.2105_2106del (p.Cys702fs) deletion Likely pathogenic 562228 rs1558008455 1:160105074-160105075 1:160135284-160135285 DST002 Distal Arthrogryposis ATP1A2 NM_000702.4(ATP1A2):c.835del (p.Arg279fs) deletion Likely pathogenic 586989 rs1558005340 1:160097428-160097428 1:160127638-160127638 DST002 Distal Arthrogryposis ROR2 NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser) SNV Conflicting interpretations of pathogenicity 596726 rs117134265 9:94487101-94487101 9:91724819-91724819 DST002 Distal Arthrogryposis ASAH1 NM_177924.5(ASAH1):c.88G>A (p.Asp30Asn) SNV Conflicting interpretations of pathogenicity 692296 8:17933087-17933087 8:18075578-18075578 DST002 Distal Arthrogryposis RAPSN NM_005055.5(RAPSN):c.272G>T (p.Arg91Leu) SNV Conflicting interpretations of pathogenicity 497298 rs375218091 11:47469623-47469623 11:47448071-47448071 DST002 Distal Arthrogryposis ROR2 NM_004560.4(ROR2):c.808A>G (p.Ile270Val) SNV Conflicting interpretations of pathogenicity 498455 rs145631389 9:94495533-94495533 9:91733251-91733251 DST002 Distal Arthrogryposis SETBP1 NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr) SNV Conflicting interpretations of pathogenicity 1031 rs267607038 18:42531917-42531917 18:44951952-44951952 DST002 Distal Arthrogryposis TNNT3 NM_006757.4(TNNT3):c.107-6G>A SNV Conflicting interpretations of pathogenicity 303970 rs200739738 11:1951034-1951034 11:1929804-1929804 DST002 Distal Arthrogryposis TNNT3 NM_006757.4(TNNT3):c.480+9C>T SNV Conflicting interpretations of pathogenicity 303973 rs374137056 11:1955684-1955684 11:1934454-1934454 DST002 Distal Arthrogryposis TNNI2 NM_003282.4(TNNI2):c.387G>A (p.Ser129=) SNV Conflicting interpretations of pathogenicity 303940 rs139399106 11:1862371-1862371 11:1841141-1841141 DST002 Distal Arthrogryposis TNNT3 NM_006757.4(TNNT3):c.429G>A (p.Lys143=) SNV Conflicting interpretations of pathogenicity 303972 rs184687090 11:1955624-1955624 11:1934394-1934394 DST002 Distal Arthrogryposis TNNT3 NM_006757.4(TNNT3):c.*86C>T SNV Conflicting interpretations of pathogenicity 303981 rs200540491 11:1959808-1959808 11:1938578-1938578 DST002 Distal Arthrogryposis MYH3 NM_002470.4(MYH3):c.1960-17dup duplication Conflicting interpretations of pathogenicity 321751 rs3216884 17:10544696-10544697 17:10641379-10641380 DST002 Distal Arthrogryposis RYR1 NM_001042723.2(RYR1):c.9579C>G (p.Cys3193Trp) SNV Conflicting interpretations of pathogenicity 159864 rs587784379 19:39006751-39006751 19:38516111-38516111 DST002 Distal Arthrogryposis RYR1 NM_001042723.2(RYR1):c.4405C>T (p.Arg1469Trp) SNV Conflicting interpretations of pathogenicity 161372 rs200546266 19:38968461-38968461 19:38477821-38477821 DST002 Distal Arthrogryposis SCN5A NM_198056.2(SCN5A):c.5213C>T (p.Ser1738Phe) SNV Conflicting interpretations of pathogenicity 191499 rs786205271 3:38592650-38592650 3:38551159-38551159 DST002 Distal Arthrogryposis SH3TC2 NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His) SNV Conflicting interpretations of pathogenicity 2485 rs80359890 5:148422281-148422281 5:149042718-149042718 DST002 Distal Arthrogryposis TNNI2 NM_003282.4(TNNI2):c.54G>C (p.Leu18=) SNV Conflicting interpretations of pathogenicity 287318 rs181679318 11:1861671-1861671 11:1840441-1840441 DST002 Distal Arthrogryposis TNNT3 NM_006757.4(TNNT3):c.759C>T (p.Val253=) SNV Conflicting interpretations of pathogenicity 303979 rs140388684 11:1959704-1959704 11:1938474-1938474 DST002 Distal Arthrogryposis TPM2 NM_213674.1(TPM2):c.772+995_772+997dup duplication Conflicting interpretations of pathogenicity 366768 rs35401252 9:35683240-35683241 9:35683243-35683244 DST002 Distal Arthrogryposis TNNI2 NM_003282.4(TNNI2):c.61G>A (p.Val21Met) SNV Conflicting interpretations of pathogenicity 303935 rs200110633 11:1861761-1861761 11:1840531-1840531 DST002 Distal Arthrogryposis TNNI2 NM_003282.4(TNNI2):c.216C>T (p.Ile72=) SNV Uncertain significance 303938 rs777907501 11:1862078-1862078 11:1840848-1840848 DST002 Distal Arthrogryposis TNNI2 NM_003282.4(TNNI2):c.*28G>A SNV Uncertain significance 303942 rs201612866 11:1862809-1862809 11:1841579-1841579 DST002 Distal Arthrogryposis TNNT3 NM_006757.3(TNNT3):c.-182C>G SNV Uncertain significance 303965 rs574250591 11:1940829-1940829 11:1919599-1919599 DST002 Distal Arthrogryposis TNNT3 NM_006757.3(TNNT3):c.-177dupC duplication Uncertain significance 303964 rs886048104 11:1940826-1940827 11:1919596-1919597 DST002 Distal Arthrogryposis TNNT3 NM_006757.4(TNNT3):c.-22G>T SNV Uncertain significance 303967 rs879755445 11:1940989-1940989 11:1919759-1919759 DST002 Distal Arthrogryposis TNNT3 NM_006757.4(TNNT3):c.417C>T (p.Asp139=) SNV Uncertain significance 303971 rs367932695 11:1955612-1955612 11:1934382-1934382 DST002 Distal Arthrogryposis TNNT3 NM_006757.4(TNNT3):c.690G>A (p.Thr230=) SNV Uncertain significance 303977 rs753756081 11:1958201-1958201 11:1936971-1936971 DST002 Distal Arthrogryposis TNNT3 NM_006757.4(TNNT3):c.*62G>T SNV Uncertain significance 303980 rs886048105 11:1959784-1959784 11:1938554-1938554 DST002 Distal Arthrogryposis MYBPC1 NM_002465.4(MYBPC1):c.51_56del (p.Pro18_Pro19del) deletion Uncertain significance 306714 rs886048827 12:102008295-102008300 12:101614517-101614522 DST002 Distal Arthrogryposis MYBPC1 NM_002465.4(MYBPC1):c.*246dup duplication Uncertain significance 306754 rs745896666 12:102079584-102079585 12:101685806-101685807 DST002 Distal Arthrogryposis TNNI2 NM_003282.4(TNNI2):c.-50G>A SNV Uncertain significance 303934 rs776016888 11:1860236-1860236 11:1839006-1839006 DST002 Distal Arthrogryposis TNNI2 NM_003282.4(TNNI2):c.159T>C (p.His53=) SNV Uncertain significance 303937 rs770213642 11:1861859-1861859 11:1840629-1840629 DST002 Distal Arthrogryposis TNNI2 NM_003282.4(TNNI2):c.149C>T (p.Pro50Leu) SNV Uncertain significance 303936 rs778403065 11:1861849-1861849 11:1840619-1840619 DST002 Distal Arthrogryposis TNNI2 NM_003282.4(TNNI2):c.276+15C>T SNV Uncertain significance 303939 rs200628572 11:1862153-1862153 11:1840923-1840923 DST002 Distal Arthrogryposis TNNT3 NM_006757.4(TNNT3):c.667C>T (p.Arg223Cys) SNV Uncertain significance 252670 rs367658497 11:1956135-1956135 11:1934905-1934905 DST002 Distal Arthrogryposis MYBPC1 NM_002465.4(MYBPC1):c.*266dup duplication Uncertain significance 306755 rs886048838 12:102079605-102079606 12:101685827-101685828 DST002 Distal Arthrogryposis MYH3 NM_002470.4(MYH3):c.4925A>G (p.Lys1642Arg) SNV Uncertain significance 321722 rs143396252 17:10535824-10535824 17:10632507-10632507 DST002 Distal Arthrogryposis TNNT3 NM_006757.4(TNNT3):c.668G>C (p.Arg223Pro) SNV Uncertain significance 303976 rs766691409 11:1956136-1956136 11:1934906-1934906 DST002 Distal Arthrogryposis TNNT3 NM_006757.4(TNNT3):c.*151G>A SNV Uncertain significance 303982 rs544425439 11:1959873-1959873 11:1938643-1938643 DST002 Distal Arthrogryposis MYH3 NM_002470.4(MYH3):c.5457+10dup duplication Uncertain significance 321714 rs761191751 17:10533593-10533594 17:10630276-10630277 DST002 Distal Arthrogryposis TNNT3 NM_006757.4(TNNT3):c.515G>A (p.Arg172Gln) SNV Uncertain significance 303975 rs200937415 11:1955810-1955810 11:1934580-1934580 DST002 Distal Arthrogryposis TNNI2 NM_003282.4(TNNI2):c.*27C>T SNV Uncertain significance 303941 rs543012338 11:1862808-1862808 11:1841578-1841578 DST002 Distal Arthrogryposis TNNT3 NM_006757.4(TNNT3):c.722+15C>T SNV Uncertain significance 303978 rs201336939 11:1958248-1958248 11:1937018-1937018 DST002 Distal Arthrogryposis KIF1B NM_015074.3(KIF1B):c.1977+6205C>T SNV Uncertain significance 279823 rs771399291 1:10363509-10363509 1:10303451-10303451 DST002 Distal Arthrogryposis TNNT3 NM_006757.4(TNNT3):c.68-14C>T SNV Uncertain significance 303968 rs202175253 11:1947911-1947911 11:1926681-1926681 DST002 Distal Arthrogryposis TNNT3 NM_006757.4(TNNT3):c.101C>T (p.Ala34Val) SNV Uncertain significance 303969 rs757234740 11:1950368-1950368 11:1929138-1929138 DST002 Distal Arthrogryposis GFRA4 NM_022139.3(GFRA4):c.244G>C (p.Ala82Pro) SNV Uncertain significance 692314 20:3641739-3641739 20:3661092-3661092 DST002 Distal Arthrogryposis NAGA NM_000262.3(NAGA):c.917A>T (p.Asn306Ile) SNV Uncertain significance 692317 22:42458871-42458871 22:42062867-42062867 DST002 Distal Arthrogryposis FBLN1 NM_006486.3(FBLN1):c.1991G>A (p.Arg664Gln) SNV Uncertain significance 692302 22:45996205-45996205 22:45600325-45600325 DST002 Distal Arthrogryposis ZNF875 NM_181786.3(ZNF875):c.1509del (p.Arg504fs) deletion Uncertain significance 692312 19:37854204-37854204 19:37363302-37363302 DST002 Distal Arthrogryposis TMPO NM_001032283.2(TMPO):c.993G>A (p.Val331=) SNV Uncertain significance 692313 12:98940139-98940139 12:98546361-98546361 DST002 Distal Arthrogryposis GCN1 NM_006836.2(GCN1):c.3581C>A (p.Ala1194Glu) SNV Uncertain significance 692308 12:120593094-120593094 12:120155290-120155290 DST002 Distal Arthrogryposis IQSEC3 NM_001170738.2(IQSEC3):c.1058T>C (p.Leu353Pro) SNV Uncertain significance 692309 12:247587-247587 12:138421-138421 DST002 Distal Arthrogryposis IQSEC3 NM_001170738.2(IQSEC3):c.3546G>A (p.Val1182=) SNV Uncertain significance 692310 12:284196-284196 12:175030-175030 DST002 Distal Arthrogryposis PRICKLE1 NM_153026.3(PRICKLE1):c.1682A>T (p.Tyr561Phe) SNV Uncertain significance 692304 12:42854425-42854425 12:42460623-42460623 DST002 Distal Arthrogryposis DYNC1H1 NM_001376.5(DYNC1H1):c.10357G>A (p.Val3453Ile) SNV Uncertain significance 692322 14:102499765-102499765 14:102033428-102033428 DST002 Distal Arthrogryposis DYNC1H1 NM_001376.5(DYNC1H1):c.12600G>T (p.Gly4200=) SNV Uncertain significance 692325 14:102510298-102510298 14:102043961-102043961 DST002 Distal Arthrogryposis RYR3 NM_001036.5(RYR3):c.13814A>G (p.Asp4605Gly) SNV Uncertain significance 692311 15:34146604-34146604 15:33854403-33854403 DST002 Distal Arthrogryposis GLDN NM_181789.4(GLDN):c.1178G>A (p.Arg393Lys) SNV Uncertain significance 692276 15:51693940-51693940 15:51401743-51401743 DST002 Distal Arthrogryposis ECEL1 NM_004826.4(ECEL1):c.494T>C (p.Leu165Pro) SNV Uncertain significance 521056 rs765305996 2:233350870-233350870 2:232486160-232486160 DST002 Distal Arthrogryposis ZEB2 NM_014795.4(ZEB2):c.444T>G (p.Phe148Leu) SNV Uncertain significance 692307 2:145162551-145162551 2:144404984-144404984 DST002 Distal Arthrogryposis SPAG16 NM_024532.5(SPAG16):c.1423_1426del (p.Tyr475fs) deletion Uncertain significance 692320 2:214878695-214878698 2:214013971-214013974 DST002 Distal Arthrogryposis SPAG16 NM_024532.5(SPAG16):c.1896A>C (p.Ter632Cys) SNV Uncertain significance 692321 2:215275039-215275039 2:214410315-214410315 DST002 Distal Arthrogryposis DQX1 NM_133637.3(DQX1):c.769C>T (p.Arg257Trp) SNV Uncertain significance 692315 2:74751097-74751097 2:74523970-74523970 DST002 Distal Arthrogryposis UNC50 NM_014044.6(UNC50):c.287C>G (p.Thr96Ser) SNV Uncertain significance 692294 2:99227244-99227244 2:98610781-98610781 DST002 Distal Arthrogryposis USH2A NM_206933.3(USH2A):c.5003G>T (p.Gly1668Val) SNV Uncertain significance 598989 rs1265349835 1:216258204-216258204 1:216084862-216084862 DST002 Distal Arthrogryposis MYH8 NM_002472.3(MYH8):c.5743A>G (p.Ile1915Val) SNV Uncertain significance 598988 rs1216879928 17:10293842-10293842 17:10390525-10390525 DST002 Distal Arthrogryposis ECEL1 NM_004826.4(ECEL1):c.2228G>T (p.Arg743Met) SNV Uncertain significance 635860 2:233345109-233345109 2:232480399-232480399 DST002 Distal Arthrogryposis MAGI3 NM_001142782.2(MAGI3):c.2565A>T (p.Gln855His) SNV Uncertain significance 692316 1:114196576-114196576 1:113653954-113653954 DST002 Distal Arthrogryposis VPS13D NM_015378.4(VPS13D):c.518G>A (p.Gly173Asp) SNV Uncertain significance 692323 1:12309350-12309350 1:12249293-12249293 DST002 Distal Arthrogryposis VPS13D NM_015378.4(VPS13D):c.4243G>A (p.Asp1415Asn) SNV Uncertain significance 692324 1:12337888-12337888 1:12277831-12277831 DST002 Distal Arthrogryposis PRG4 NM_001127708.3(PRG4):c.3446G>A (p.Gly1149Asp) SNV Uncertain significance 692303 1:186280235-186280235 1:186311103-186311103 DST002 Distal Arthrogryposis TNNT3 NM_006757.3(TNNT3):c.-83G>A SNV Likely benign 303966 rs114407235 11:1940928-1940928 11:1919698-1919698 DST002 Distal Arthrogryposis MYH3 NM_002470.4(MYH3):c.1960-8del deletion Likely benign 321752 rs3216884 17:10544697-10544697 17:10641380-10641380 DST002 Distal Arthrogryposis MYBPC1 NM_002465.4(MYBPC1):c.122C>T (p.Pro41Leu) SNV Likely benign 306717 rs147007629 12:102020668-102020668 12:101626890-101626890 DST002 Distal Arthrogryposis TNNT3 NM_006757.4(TNNT3):c.723-15G>C SNV Likely benign 260030 rs143255528 11:1959653-1959653 11:1938423-1938423 DST002 Distal Arthrogryposis TNNT3 NM_006757.4(TNNT3):c.*36C>T SNV Benign/Likely benign 260023 rs147535560 11:1959758-1959758 11:1938528-1938528 DST002 Distal Arthrogryposis MYH3 NM_002470.4(MYH3):c.5457+9dup duplication Benign/Likely benign 258698 rs397750512 17:10533595-10533596 17:10630278-10630279 DST002 Distal Arthrogryposis TNNT3 NM_006757.4(TNNT3):c.367-9T>C SNV Benign/Likely benign 260027 rs76471485 11:1955553-1955553 11:1934323-1934323 DST002 Distal Arthrogryposis TNNI2 NM_003282.4(TNNI2):c.*94C>T SNV Benign/Likely benign 303943 rs117830156 11:1862875-1862875 11:1841645-1841645 DST002 Distal Arthrogryposis TPM2 NM_213674.1(TPM2):c.772+1001_772+1002insA insertion Benign/Likely benign 366769 rs1554658501 9:35683241-35683242 9:35683244-35683245 DST002 Distal Arthrogryposis TNNT3 NM_006757.4(TNNT3):c.414G>A (p.Glu138=) SNV Benign/Likely benign 31870 rs2292470 11:1955609-1955609 11:1934379-1934379 DST002 Distal Arthrogryposis TNNT3 NM_006757.4(TNNT3):c.636T>C (p.Ile212=) SNV Benign/Likely benign 31871 rs16927166 11:1956104-1956104 11:1934874-1934874 DST002 Distal Arthrogryposis TNNT3 NM_006757.4(TNNT3):c.762C>T (p.Gly254=) SNV Benign/Likely benign 31872 rs4727 11:1959707-1959707 11:1938477-1938477 DST002 Distal Arthrogryposis TNNI2 NM_003282.4(TNNI2):c.60T>C (p.Ser20=) SNV Benign/Likely benign 94120 rs907610 11:1861760-1861760 11:1840530-1840530 DST002 Distal Arthrogryposis TPM2 NM_213674.1(TPM2):c.772+995dup duplication Benign/Likely benign 94124 rs35401252 9:35683240-35683241 9:35683243-35683244 DST002 Distal Arthrogryposis TNNT3 NM_006757.4(TNNT3):c.480+10G>T SNV Benign/Likely benign 303974 rs188255267 11:1955685-1955685 11:1934455-1934455 DST002 Distal Arthrogryposis TH NM_000360.4(TH):c.364C>T (p.Arg122Ter) SNV Pathogenic 449110 rs771610752 11:2189844-2189844 11:2168614-2168614 DYS154 Dystonia SATB2 NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter) SNV Pathogenic 522269 rs1553547838 2:200193432-200193432 2:199328709-199328709 DYS154 Dystonia TH NM_199292.2(TH):c.-70G>A SNV Pathogenic 526213 rs1372180906 11:2193086-2193086 11:2171856-2171856 DYS154 Dystonia GCH1 NM_000161.3(GCH1):c.126dup (p.Glu43fs) duplication Pathogenic 560371 rs1566687487 14:55369255-55369256 14:54902537-54902538 DYS154 Dystonia GJC2 NM_020435.4(GJC2):c.107del (p.Ile36fs) deletion Pathogenic 625200 1:228345566-228345566 1:228157865-228157865 DYS154 Dystonia GRIA3 NM_007325.5(GRIA3):c.2327C>T (p.Thr776Met) SNV Pathogenic 625211 X:122613916-122613916 X:123480065-123480065 DYS154 Dystonia SPR NM_003124.5(SPR):c.305-2A>G SNV Pathogenic 625209 2:73115441-73115441 2:72888312-72888312 DYS154 Dystonia RHOBTB2 NM_001160036.2(RHOBTB2):c.1532G>A (p.Arg511Gln) SNV Pathogenic 545418 rs1554504684 8:22865224-22865224 8:23007711-23007711 DYS154 Dystonia EIF2B5 NM_003907.3(EIF2B5):c.943C>T (p.Arg315Cys) SNV Pathogenic 598970 rs113994063 3:183858305-183858305 3:184140517-184140517 DYS154 Dystonia TH NM_000360.4(TH):c.448C>T (p.Gln150Ter) SNV Pathogenic 691995 11:2189760-2189760 11:2168530-2168530 DYS154 Dystonia CEP104 NM_014704.4(CEP104):c.89del (p.Thr30fs) deletion Pathogenic 812756 1:3768883-3768883 1:3852319-3852319 DYS154 Dystonia WDR73 NM_032856.5(WDR73):c.681T>A (p.Cys227Ter) SNV Pathogenic 812996 15:85188904-85188904 15:84645673-84645673 DYS154 Dystonia KMT2B NM_014727.3(KMT2B):c.3024_3025AG[1] (p.Glu1009fs) short repeat Pathogenic 813002 19:36214370-36214371 19:35723468-35723469 DYS154 Dystonia KMT2B NM_014727.3(KMT2B):c.3143_3149del (p.Gly1048fs) deletion Pathogenic 813003 19:36214713-36214719 19:35723812-35723818 DYS154 Dystonia WDR45 NM_001029896.2(WDR45):c.69_75del (p.Cys23fs) deletion Pathogenic 813007 X:48935551-48935557 X:49077892-49077898 DYS154 Dystonia STS deletion Pathogenic 813270 X:6453783-8133115 DYS154 Dystonia SPR NC_000002.12:g.(?_72887413)_(72891557_?)del deletion Pathogenic 831031 2:73114542-73118686 DYS154 Dystonia SPR NM_003124.5(SPR):c.615dup (p.Gln206fs) duplication Pathogenic 842660 2:73118494-73118495 2:72891365-72891366 DYS154 Dystonia TH NM_000360.4(TH):c.991G>T (p.Glu331Ter) SNV Pathogenic 840013 11:2187766-2187766 11:2166536-2166536 DYS154 Dystonia PANK2 NM_153638.3(PANK2):c.1441C>T (p.Arg481Ter) SNV Pathogenic 4557 rs137852968 20:3897602-3897602 20:3916955-3916955 DYS154 Dystonia CSTB NM_000100.3(CSTB):c.202C>T (p.Arg68Ter) SNV Pathogenic 8396 rs74315442 21:45194178-45194178 21:43774297-43774297 DYS154 Dystonia TH NM_000360.4(TH):c.605G>A (p.Arg202His) SNV Pathogenic 12327 rs80338892 11:2189135-2189135 11:2167905-2167905 DYS154 Dystonia SPR NM_003124.5(SPR):c.448A>G (p.Arg150Gly) SNV Pathogenic 12941 rs104893665 2:73115586-73115586 2:72888457-72888457 DYS154 Dystonia SPR NM_003124.5(SPR):c.751A>T (p.Lys251Ter) SNV Pathogenic 12944 rs121917747 2:73118631-73118631 2:72891502-72891502 DYS154 Dystonia ATP1A3 NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn) SNV Pathogenic 37107 rs80356537 19:42474557-42474557 19:41970405-41970405 DYS154 Dystonia GNB1 NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) SNV Pathogenic 208722 rs752746786 1:1737942-1737942 1:1806503-1806503 DYS154 Dystonia MYO5A NM_000259.3(MYO5A):c.4200C>G (p.Ser1400Arg) SNV Pathogenic 242881 rs1114167290 15:52632432-52632432 15:52340235-52340235 DYS154 Dystonia C19orf12 NM_001256047.1(C19orf12):c.172G>A (p.Gly58Arg) SNV Pathogenic/Likely pathogenic 31157 rs515726205 19:30193873-30193873 19:29702966-29702966 DYS154 Dystonia CASK NM_003688.3(CASK):c.2506-2A>G SNV Pathogenic/Likely pathogenic 265316 rs398122845 X:41383289-41383289 X:41524036-41524036 DYS154 Dystonia TH NM_000360.4(TH):c.614T>C (p.Leu205Pro) SNV Pathogenic/Likely pathogenic 12325 rs121917763 11:2189126-2189126 11:2167896-2167896 DYS154 Dystonia TOR1A NM_000113.2(TOR1A):c.907_909delGAG (p.Glu303del) short repeat Pathogenic/Likely pathogenic 5180 rs80358233 9:132576341-132576343 9:129814062-129814064 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.1528G>A (p.Glu510Lys) SNV Pathogenic/Likely pathogenic 641954 11:26619992-26619992 11:26598445-26598445 DYS154 Dystonia TH NM_000360.4(TH):c.1035_1045del (p.Gln346fs) deletion Pathogenic/Likely pathogenic 639906 11:2187712-2187722 11:2166482-2166492 DYS154 Dystonia CAMK2B NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) SNV Pathogenic/Likely pathogenic 430922 rs1554389088 7:44283125-44283125 7:44243526-44243526 DYS154 Dystonia TH NM_000360.3(TH):c.-71C>T SNV Likely pathogenic 558656 rs549435434 11:2193087-2193087 11:2171857-2171857 DYS154 Dystonia TH NM_000360.4(TH):c.644+1G>A SNV Likely pathogenic 557031 rs1266265578 11:2189095-2189095 11:2167865-2167865 DYS154 Dystonia MECP2 NM_001110792.2(MECP2):c.148_152del (p.Glu50fs) deletion Likely pathogenic 813009 X:153297919-153297923 X:154032468-154032472 DYS154 Dystonia CASK NC_000023.11:g.41506506_41542250del deletion Likely pathogenic 812931 X:41365759-41401503 DYS154 Dystonia TH NM_000360.4(TH):c.1141C>A (p.Gln381Lys) SNV Likely pathogenic 12324 rs121917762 11:2186957-2186957 11:2165727-2165727 DYS154 Dystonia TH NC_000011.10:g.(?_2166470)_(2168675_?)del deletion Likely pathogenic 831834 11:2187700-2189905 DYS154 Dystonia THAP1 NM_018105.3(THAP1):c.19G>A (p.Ala7Thr) SNV Likely pathogenic 812991 8:42698219-42698219 8:42843076-42843076 DYS154 Dystonia GNB1 NM_002074.5(GNB1):c.352G>T (p.Asp118Tyr) SNV Likely pathogenic 812755 1:1735936-1735936 1:1804497-1804497 DYS154 Dystonia TH NM_000360.4(TH):c.692C>G (p.Thr231Ser) SNV Likely pathogenic 691996 11:2188668-2188668 11:2167438-2167438 DYS154 Dystonia PCDH12 NM_016580.3(PCDH12):c.2008G>T (p.Glu670Ter) SNV Likely pathogenic 619128 rs531630376 5:141335409-141335409 5:141955844-141955844 DYS154 Dystonia TH NM_000360.4(TH):c.645-2A>G SNV Likely pathogenic 648965 11:2188717-2188717 11:2167487-2167487 DYS154 Dystonia NPC1 NM_000271.5(NPC1):c.3560C>G (p.Ala1187Gly) SNV Likely pathogenic 374166 rs113371321 18:21114441-21114441 18:23534477-23534477 DYS154 Dystonia NPC1 NM_000271.5(NPC1):c.2050C>T (p.Leu684Phe) SNV Likely pathogenic 374167 rs1057518942 18:21124388-21124388 18:23544424-23544424 DYS154 Dystonia DRD2 NM_000795.4(DRD2):c.811-83G>T SNV drug response 375655 rs1076560 11:113283688-113283688 11:113412966-113412966 DYS154 Dystonia TH NM_000360.4(TH):c.288G>C (p.Leu96=) SNV Conflicting interpretations of pathogenicity 374421 rs151082354 11:2190904-2190904 11:2169674-2169674 DYS154 Dystonia TH NM_000360.4(TH):c.12C>T (p.Pro4=) SNV Conflicting interpretations of pathogenicity 374422 rs147131010 11:2193005-2193005 11:2171775-2171775 DYS154 Dystonia TH NM_000360.4(TH):c.1368C>T (p.Ser456=) SNV Conflicting interpretations of pathogenicity 304068 rs45538536 11:2185589-2185589 11:2164359-2164359 DYS154 Dystonia DRD2 NM_000795.4(DRD2):c.928C>T (p.Pro310Ser) SNV Conflicting interpretations of pathogenicity 256812 rs1800496 11:113283488-113283488 11:113412766-113412766 DYS154 Dystonia SPR NM_003124.5(SPR):c.369C>T (p.Tyr123=) SNV Conflicting interpretations of pathogenicity 336990 rs146349901 2:73115507-73115507 2:72888378-72888378 DYS154 Dystonia TH NM_000360.4(TH):c.1400A>G (p.Asp467Gly) SNV Conflicting interpretations of pathogenicity 304067 rs771351747 11:2185557-2185557 11:2164327-2164327 DYS154 Dystonia TH NM_000360.4(TH):c.1170C>G (p.Ala390=) SNV Conflicting interpretations of pathogenicity 304070 rs199839852 11:2186928-2186928 11:2165698-2165698 DYS154 Dystonia TH NM_000360.4(TH):c.363G>A (p.Pro121=) SNV Conflicting interpretations of pathogenicity 304080 rs370429316 11:2189845-2189845 11:2168615-2168615 DYS154 Dystonia TH NM_000360.4(TH):c.252G>A (p.Leu84=) SNV Conflicting interpretations of pathogenicity 304084 rs758016812 11:2190940-2190940 11:2169710-2169710 DYS154 Dystonia TH NM_000360.4(TH):c.1105-5C>G SNV Conflicting interpretations of pathogenicity 304071 rs535794692 11:2186998-2186998 11:2165768-2165768 DYS154 Dystonia TH NM_000360.4(TH):c.897C>T (p.Phe299=) SNV Conflicting interpretations of pathogenicity 304074 rs76719766 11:2187943-2187943 11:2166713-2166713 DYS154 Dystonia TH NM_000360.4(TH):c.1470C>G (p.Ala490=) SNV Conflicting interpretations of pathogenicity 304065 rs777477661 11:2185487-2185487 11:2164257-2164257 DYS154 Dystonia TH NM_000360.4(TH):c.1422C>T (p.Ala474=) SNV Conflicting interpretations of pathogenicity 696223 11:2185535-2185535 11:2164305-2164305 DYS154 Dystonia TH NM_000360.4(TH):c.1398C>T (p.Ile466=) SNV Conflicting interpretations of pathogenicity 695523 11:2185559-2185559 11:2164329-2164329 DYS154 Dystonia TH NM_000360.4(TH):c.1287A>C (p.Ser429=) SNV Conflicting interpretations of pathogenicity 727393 11:2186509-2186509 11:2165279-2165279 DYS154 Dystonia TH NM_000360.4(TH):c.675C>T (p.Thr225=) SNV Conflicting interpretations of pathogenicity 729957 11:2188685-2188685 11:2167455-2167455 DYS154 Dystonia TH NM_000360.4(TH):c.81G>T (p.Glu27Asp) SNV Conflicting interpretations of pathogenicity 695326 11:2192936-2192936 11:2171706-2171706 DYS154 Dystonia TH NM_000360.4(TH):c.1228C>A (p.Arg410=) SNV Conflicting interpretations of pathogenicity 717309 11:2186568-2186568 11:2165338-2165338 DYS154 Dystonia TH NM_000360.4(TH):c.1388C>T (p.Thr463Met) SNV Conflicting interpretations of pathogenicity 12326 rs45471299 11:2185569-2185569 11:2164339-2164339 DYS154 Dystonia TH NM_000360.4(TH):c.16G>A (p.Ala6Thr) SNV Conflicting interpretations of pathogenicity 242252 rs74555599 11:2193001-2193001 11:2171771-2171771 DYS154 Dystonia C19orf12 NM_001256047.1(C19orf12):c.391A>G (p.Lys131Glu) SNV Conflicting interpretations of pathogenicity 31158 rs146170087 19:30193654-30193654 19:29702747-29702747 DYS154 Dystonia ND6 NC_012920.1:m.14597A>G SNV Conflicting interpretations of pathogenicity 209173 rs797045055 MT:14597-14597 MT:14597-14597 DYS154 Dystonia SPR NM_003124.5(SPR):c.628C>T (p.Arg210Trp) SNV Conflicting interpretations of pathogenicity 239510 rs200845457 2:73118508-73118508 2:72891379-72891379 DYS154 Dystonia MRE11 NM_005591.3(MRE11):c.1727G>A (p.Arg576Gln) SNV Conflicting interpretations of pathogenicity 127974 rs139461096 11:94180441-94180441 11:94447275-94447275 DYS154 Dystonia SLC2A1 NM_006516.3(SLC2A1):c.972+7del deletion Conflicting interpretations of pathogenicity 198543 rs531385270 1:43394874-43394874 1:42929203-42929203 DYS154 Dystonia MEN1 NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser) SNV Conflicting interpretations of pathogenicity 200987 rs745404679 11:64572021-64572021 11:64804549-64804549 DYS154 Dystonia TOR1A NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile) SNV Conflicting interpretations of pathogenicity 18438 rs267607134 9:132581031-132581031 9:129818752-129818752 DYS154 Dystonia TH NM_000360.4(TH):c.679G>A (p.Glu227Lys) SNV Conflicting interpretations of pathogenicity 550188 rs536382000 11:2188681-2188681 11:2167451-2167451 DYS154 Dystonia TH NM_000360.4(TH):c.90+13G>A SNV Conflicting interpretations of pathogenicity 555292 rs77140743 11:2192914-2192914 11:2171684-2171684 DYS154 Dystonia TH NM_000360.4(TH):c.1255G>A (p.Val419Met) SNV Conflicting interpretations of pathogenicity 448683 rs184106392 11:2186541-2186541 11:2165311-2165311 DYS154 Dystonia SPR NM_003124.5(SPR):c.523G>A (p.Ala175Thr) SNV Uncertain significance 526215 rs1042194044 2:73115661-73115661 2:72888532-72888532 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.712A>G (p.Ile238Val) SNV Uncertain significance 526217 rs1391138416 9:130942773-130942773 9:128180494-128180494 DYS154 Dystonia TH NM_000360.4(TH):c.13G>A (p.Asp5Asn) SNV Uncertain significance 526214 rs777016570 11:2193004-2193004 11:2171774-2171774 DYS154 Dystonia TH NM_000360.4(TH):c.1229G>A (p.Arg410Gln) SNV Uncertain significance 526212 rs367874223 11:2186567-2186567 11:2165337-2165337 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.1234G>A (p.Val412Ile) SNV Uncertain significance 526209 rs1554968177 11:26569042-26569042 11:26547495-26547495 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.1795G>C (p.Ala599Pro) SNV Uncertain significance 526211 rs1554976231 11:26621220-26621220 11:26599673-26599673 DYS154 Dystonia TH NM_000360.4(TH):c.562G>C (p.Asp188His) SNV Uncertain significance 526216 rs757849221 11:2189335-2189335 11:2168105-2168105 DYS154 Dystonia TH NM_000360.4(TH):c.452T>C (p.Val151Ala) SNV Uncertain significance 526208 rs147569564 11:2189756-2189756 11:2168526-2168526 DYS154 Dystonia GNAL NM_182978.4(GNAL):c.1249G>A (p.Gly417Ser) SNV Uncertain significance 455977 rs142792291 18:11881006-11881006 18:11881007-11881007 DYS154 Dystonia MRE11 NM_005591.3(MRE11):c.229G>A (p.Glu77Lys) SNV Uncertain significance 481777 rs779269083 11:94219175-94219175 11:94486009-94486009 DYS154 Dystonia TH NM_000360.4(TH):c.12C>A (p.Pro4=) SNV Uncertain significance 455991 rs147131010 11:2193005-2193005 11:2171775-2171775 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.257A>G (p.Asn86Ser) SNV Uncertain significance 455989 rs1378436915 11:26465327-26465327 11:26443780-26443780 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.58_81dup (p.Leu20_Gln27dup) duplication Uncertain significance 455983 rs768712577 9:130953055-130953056 9:128190776-128190777 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.1807A>G (p.Asn603Asp) SNV Uncertain significance 455986 rs1554976233 11:26621232-26621232 11:26599685-26599685 DYS154 Dystonia TH NM_000360.4(TH):c.110G>A (p.Arg37His) SNV Uncertain significance 455993 rs368122376 11:2191082-2191082 11:2169852-2169852 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.1215G>A (p.Met405Ile) SNV Uncertain significance 455984 rs751046509 11:26569023-26569023 11:26547476-26547476 DYS154 Dystonia TH NM_000360.4(TH):c.91-853C>T SNV Uncertain significance 455992 rs756331878 11:2191954-2191954 11:2170724-2170724 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.295C>A (p.Leu99Ile) SNV Uncertain significance 444246 rs370404701 11:26465365-26465365 11:26443818-26443818 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.2812G>A (p.Val938Ile) SNV Uncertain significance 444249 rs774929522 11:26681857-26681857 11:26660310-26660310 DYS154 Dystonia SPR NM_003124.5(SPR):c.193C>T (p.Arg65Trp) SNV Uncertain significance 444505 rs745594726 2:73114754-73114754 2:72887625-72887625 DYS154 Dystonia TH NM_000360.4(TH):c.1402G>A (p.Val468Met) SNV Uncertain significance 412030 rs1800033 11:2185555-2185555 11:2164325-2164325 DYS154 Dystonia TH NM_000360.4(TH):c.662G>T (p.Arg221Leu) SNV Uncertain significance 412033 rs150559011 11:2188698-2188698 11:2167468-2167468 DYS154 Dystonia SPR NM_003124.5(SPR):c.328G>C (p.Gly110Arg) SNV Uncertain significance 455979 rs201651366 2:73115466-73115466 2:72888337-72888337 DYS154 Dystonia TH NM_000360.4(TH):c.19A>C (p.Thr7Pro) SNV Uncertain significance 412031 rs768150949 11:2192998-2192998 11:2171768-2171768 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.26_49del (p.Gln9_Gln16del) deletion Uncertain significance 455982 rs767703623 9:130953088-130953111 9:128190809-128190832 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.1918C>T (p.Arg640Trp) SNV Uncertain significance 406208 rs776701482 9:130938655-130938655 9:128176376-128176376 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.353C>T (p.Thr118Ile) SNV Uncertain significance 406207 rs371329389 9:130950147-130950147 9:128187868-128187868 DYS154 Dystonia TH NM_000360.4(TH):c.193G>A (p.Gly65Arg) SNV Uncertain significance 412032 rs780478399 11:2190999-2190999 11:2169769-2169769 DYS154 Dystonia TH NM_000360.4(TH):c.1301C>G (p.Ser434Cys) SNV Uncertain significance 554418 rs767211543 11:2186495-2186495 11:2165265-2165265 DYS154 Dystonia GNAL NM_182978.4(GNAL):c.69G>A (p.Ser23=) SNV Uncertain significance 526210 rs987117042 18:11689631-11689631 18:11689632-11689632 DYS154 Dystonia HERC2 NM_004667.5(HERC2):c.5045A>G (p.Asn1682Ser) SNV Uncertain significance 599009 rs140073033 15:28474681-28474681 15:28229535-28229535 DYS154 Dystonia RYR1 NM_000540.2(RYR1):c.1312G>C (p.Glu438Gln) SNV Uncertain significance 599010 rs765668209 19:38943526-38943526 19:38452886-38452886 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.1943A>G (p.Asn648Ser) SNV Uncertain significance 651774 11:26655820-26655820 11:26634273-26634273 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.2301C>G (p.Ile767Met) SNV Uncertain significance 645760 11:26664754-26664754 11:26643207-26643207 DYS154 Dystonia GNAL NM_182978.4(GNAL):c.194G>A (p.Arg65Gln) SNV Uncertain significance 655904 18:11689756-11689756 18:11689757-11689757 DYS154 Dystonia GNAL NM_182978.4(GNAL):c.268A>G (p.Lys90Glu) SNV Uncertain significance 648506 18:11689830-11689830 18:11689831-11689831 DYS154 Dystonia GNAL NM_182978.4(GNAL):c.271G>A (p.Glu91Lys) SNV Uncertain significance 650685 18:11689833-11689833 18:11689834-11689834 DYS154 Dystonia GNAL NM_182978.4(GNAL):c.1060_1065del (p.Phe354_Leu355del) deletion Uncertain significance 648385 18:11872290-11872295 18:11872291-11872296 DYS154 Dystonia TH NM_000360.4(TH):c.977+8C>T SNV Uncertain significance 662187 11:2187855-2187855 11:2166625-2166625 DYS154 Dystonia TH NM_000360.4(TH):c.576+6_576+14del deletion Uncertain significance 651415 11:2189307-2189315 11:2168077-2168085 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.591+4G>C SNV Uncertain significance 639759 11:26529813-26529813 11:26508266-26508266 DYS154 Dystonia TH NM_000360.4(TH):c.950C>G (p.Ala317Gly) SNV Uncertain significance 649400 11:2187890-2187890 11:2166660-2166660 DYS154 Dystonia TH NM_000360.4(TH):c.648C>T (p.Gly216=) SNV Uncertain significance 657953 11:2188712-2188712 11:2167482-2167482 DYS154 Dystonia TH NM_000360.4(TH):c.604C>T (p.Arg202Cys) SNV Uncertain significance 640660 11:2189136-2189136 11:2167906-2167906 DYS154 Dystonia TH NM_000360.4(TH):c.457G>A (p.Glu153Lys) SNV Uncertain significance 664911 11:2189751-2189751 11:2168521-2168521 DYS154 Dystonia TH NM_000360.4(TH):c.391T>G (p.Phe131Val) SNV Uncertain significance 643112 11:2189817-2189817 11:2168587-2168587 DYS154 Dystonia TH NM_000360.4(TH):c.365G>A (p.Arg122Gln) SNV Uncertain significance 650280 11:2189843-2189843 11:2168613-2168613 DYS154 Dystonia TH NM_000360.4(TH):c.284C>G (p.Ala95Gly) SNV Uncertain significance 665511 11:2190908-2190908 11:2169678-2169678 DYS154 Dystonia TH NM_000360.4(TH):c.91-819G>T SNV Uncertain significance 658667 11:2191920-2191920 11:2170690-2170690 DYS154 Dystonia TH NM_000360.4(TH):c.91-896G>A SNV Uncertain significance 640633 11:2191997-2191997 11:2170767-2170767 DYS154 Dystonia TH NM_000360.4(TH):c.71A>G (p.Lys24Arg) SNV Uncertain significance 640410 11:2192946-2192946 11:2171716-2171716 DYS154 Dystonia TH NM_000360.4(TH):c.43C>T (p.Arg15Cys) SNV Uncertain significance 655788 11:2192974-2192974 11:2171744-2171744 DYS154 Dystonia TH NM_000360.4(TH):c.32C>A (p.Ala11Asp) SNV Uncertain significance 664062 11:2192985-2192985 11:2171755-2171755 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.281G>A (p.Cys94Tyr) SNV Uncertain significance 660637 11:26465351-26465351 11:26443804-26443804 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.407C>A (p.Ser136Tyr) SNV Uncertain significance 641488 11:26484670-26484670 11:26463123-26463123 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.523A>G (p.Ile175Val) SNV Uncertain significance 663074 11:26529741-26529741 11:26508194-26508194 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.715G>A (p.Gly239Arg) SNV Uncertain significance 642181 11:26547204-26547204 11:26525657-26525657 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.859C>T (p.Arg287Trp) SNV Uncertain significance 660344 11:26552873-26552873 11:26531326-26531326 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.1003T>A (p.Ser335Thr) SNV Uncertain significance 639297 11:26558979-26558979 11:26537432-26537432 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.1111C>T (p.Arg371Cys) SNV Uncertain significance 647444 11:26563572-26563572 11:26542025-26542025 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.1522G>T (p.Glu508Ter) SNV Uncertain significance 661475 11:26619986-26619986 11:26598439-26598439 DYS154 Dystonia SPR NM_003124.5(SPR):c.595G>C (p.Gly199Arg) SNV Uncertain significance 642591 2:73115733-73115733 2:72888604-72888604 DYS154 Dystonia SPR NM_003124.5(SPR):c.16G>C (p.Gly6Arg) SNV Uncertain significance 646415 2:73114577-73114577 2:72887448-72887448 DYS154 Dystonia SPR NM_003124.5(SPR):c.283C>G (p.Leu95Val) SNV Uncertain significance 643639 2:73114844-73114844 2:72887715-72887715 DYS154 Dystonia SPR NM_003124.5(SPR):c.381C>G (p.Asn127Lys) SNV Uncertain significance 664157 2:73115519-73115519 2:72888390-72888390 DYS154 Dystonia SPR NM_003124.5(SPR):c.398G>T (p.Cys133Phe) SNV Uncertain significance 661563 2:73115536-73115536 2:72888407-72888407 DYS154 Dystonia SPR NM_003124.5(SPR):c.436C>A (p.Pro146Thr) SNV Uncertain significance 642830 2:73115574-73115574 2:72888445-72888445 DYS154 Dystonia SPR NM_003124.5(SPR):c.643G>A (p.Asp215Asn) SNV Uncertain significance 663845 2:73118523-73118523 2:72891394-72891394 DYS154 Dystonia SPR NM_003124.5(SPR):c.706G>A (p.Val236Met) SNV Uncertain significance 660797 2:73118586-73118586 2:72891457-72891457 DYS154 Dystonia SPR NM_003124.5(SPR):c.769G>C (p.Asp257His) SNV Uncertain significance 650771 2:73118649-73118649 2:72891520-72891520 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.2594G>A (p.Arg865His) SNV Uncertain significance 664905 9:130928579-130928579 9:128166300-128166300 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.1924G>A (p.Val642Ile) SNV Uncertain significance 641593 9:130938649-130938649 9:128176370-128176370 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.1879A>G (p.Met627Val) SNV Uncertain significance 665442 9:130938694-130938694 9:128176415-128176415 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.1530C>T (p.Gly510=) SNV Uncertain significance 649975 9:130940738-130940738 9:128178459-128178459 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.1433A>T (p.Gln478Leu) SNV Uncertain significance 663036 9:130941053-130941053 9:128178774-128178774 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.1415C>T (p.Ser472Leu) SNV Uncertain significance 645251 9:130941071-130941071 9:128178792-128178792 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.1327G>A (p.Val443Ile) SNV Uncertain significance 647556 9:130941159-130941159 9:128178880-128178880 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.1093_1134del (p.Leu365_Gln378del) deletion Uncertain significance 647891 9:130941352-130941393 9:128179073-128179114 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.36_56del (p.6_12QQQQLQQ[1]) deletion Uncertain significance 650568 9:130953081-130953101 9:128190802-128190822 DYS154 Dystonia TOR1A NM_000113.3(TOR1A):c.866G>A (p.Gly289Asp) SNV Uncertain significance 653047 9:132576384-132576384 9:129814105-129814105 DYS154 Dystonia TOR1A NM_000113.3(TOR1A):c.373A>C (p.Asn125His) SNV Uncertain significance 640392 9:132584931-132584931 9:129822652-129822652 DYS154 Dystonia DRD2 NM_000795.4(DRD2):c.1096C>A (p.Gln366Lys) SNV Uncertain significance 654937 11:113283320-113283320 11:113412598-113412598 DYS154 Dystonia DRD2 NM_000795.4(DRD2):c.899C>A (p.Pro300His) SNV Uncertain significance 653951 11:113283517-113283517 11:113412795-113412795 DYS154 Dystonia DRD2 NM_000795.4(DRD2):c.820C>T (p.Arg274Trp) SNV Uncertain significance 655174 11:113283596-113283596 11:113412874-113412874 DYS154 Dystonia TH NM_000360.4(TH):c.1475C>T (p.Ala492Val) SNV Uncertain significance 646204 11:2185482-2185482 11:2164252-2164252 DYS154 Dystonia TH NM_000360.4(TH):c.1430G>A (p.Arg477His) SNV Uncertain significance 652994 11:2185527-2185527 11:2164297-2164297 DYS154 Dystonia TH NM_000360.4(TH):c.1349G>A (p.Arg450His) SNV Uncertain significance 644442 11:2185608-2185608 11:2164378-2164378 DYS154 Dystonia TH NM_000360.4(TH):c.1215G>A (p.Glu405=) SNV Uncertain significance 665765 11:2186581-2186581 11:2165351-2165351 DYS154 Dystonia SPR NM_003124.5(SPR):c.207C>G (p.Asp69Glu) SNV Uncertain significance 566802 rs779655618 2:73114768-73114768 2:72887639-72887639 DYS154 Dystonia SPR NM_003124.5(SPR):c.654G>A (p.Met218Ile) SNV Uncertain significance 574213 rs150078285 2:73118534-73118534 2:72891405-72891405 DYS154 Dystonia SPR NM_003124.5(SPR):c.502G>A (p.Ala168Thr) SNV Uncertain significance 574755 rs145110113 2:73115640-73115640 2:72888511-72888511 DYS154 Dystonia SPR NM_003124.5(SPR):c.706G>T (p.Val236Leu) SNV Uncertain significance 566487 rs371904378 2:73118586-73118586 2:72891457-72891457 DYS154 Dystonia SPR NM_003124.5(SPR):c.266C>T (p.Pro89Leu) SNV Uncertain significance 569621 rs760997514 2:73114827-73114827 2:72887698-72887698 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.2065G>A (p.Val689Ile) SNV Uncertain significance 573162 rs139103399 9:130931765-130931765 9:128169486-128169486 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.58_81del (p.Leu20_Gln27del) deletion Uncertain significance 581665 rs768712577 9:130953056-130953079 9:128190777-128190800 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.857G>A (p.Arg286Gln) SNV Uncertain significance 573041 rs775613975 9:130941629-130941629 9:128179350-128179350 DYS154 Dystonia TOR1A NM_000113.3(TOR1A):c.949A>G (p.Lys317Glu) SNV Uncertain significance 576253 rs1564181992 9:132576301-132576301 9:129814022-129814022 DYS154 Dystonia TH NM_000360.4(TH):c.91-868C>T SNV Uncertain significance 567057 rs148235227 11:2191969-2191969 11:2170739-2170739 DYS154 Dystonia DRD2 NM_000795.4(DRD2):c.880C>T (p.Arg294Trp) SNV Uncertain significance 581448 rs758884516 11:113283536-113283536 11:113412814-113412814 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.1730C>T (p.Ser577Phe) SNV Uncertain significance 580942 rs780188256 9:130939933-130939933 9:128177654-128177654 DYS154 Dystonia TH NM_000360.4(TH):c.739G>C (p.Ala247Pro) SNV Uncertain significance 580760 rs373283527 11:2188219-2188219 11:2166989-2166989 DYS154 Dystonia TH NM_000360.4(TH):c.517C>A (p.Leu173Met) SNV Uncertain significance 566840 rs1468608879 11:2189380-2189380 11:2168150-2168150 DYS154 Dystonia TH NM_000360.4(TH):c.23C>T (p.Thr8Met) SNV Uncertain significance 576292 rs373964946 11:2192994-2192994 11:2171764-2171764 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.743A>C (p.Gln248Pro) SNV Uncertain significance 575627 rs1381117686 11:26552757-26552757 11:26531210-26531210 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.1479_1481del (p.Arg494del) deletion Uncertain significance 566078 rs1565132933 11:26619941-26619943 11:26598394-26598396 DYS154 Dystonia TH NM_000360.4(TH):c.1228C>T (p.Arg410Trp) SNV Uncertain significance 573670 rs575326605 11:2186568-2186568 11:2165338-2165338 DYS154 Dystonia TH NM_000360.4(TH):c.1084G>A (p.Glu362Lys) SNV Uncertain significance 569530 rs776917257 11:2187252-2187252 11:2166022-2166022 DYS154 Dystonia TH NM_000360.4(TH):c.1047+3A>G SNV Uncertain significance 582879 rs1564917483 11:2187707-2187707 11:2166477-2166477 DYS154 Dystonia TH NM_000360.4(TH):c.585G>A (p.Ser195=) SNV Uncertain significance 581934 rs376615793 11:2189155-2189155 11:2167925-2167925 DYS154 Dystonia TH NM_000360.4(TH):c.584C>T (p.Ser195Leu) SNV Uncertain significance 567786 rs372409517 11:2189156-2189156 11:2167926-2167926 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.1277A>C (p.Gln426Pro) SNV Uncertain significance 565897 rs1564270747 9:130941209-130941209 9:128178930-128178930 DYS154 Dystonia GNAL NM_182978.4(GNAL):c.46G>C (p.Gly16Arg) SNV Uncertain significance 566897 rs1009777479 18:11689608-11689608 18:11689609-11689609 DYS154 Dystonia TH NM_000360.4(TH):c.576G>A (p.Pro192=) SNV Uncertain significance 574415 rs201809787 11:2189321-2189321 11:2168091-2168091 DYS154 Dystonia TH NM_000360.4(TH):c.978-3C>A SNV Uncertain significance 583092 rs754735292 11:2187782-2187782 11:2166552-2166552 DYS154 Dystonia TH NM_000360.4(TH):c.749A>T (p.Glu250Val) SNV Uncertain significance 242257 rs878855309 11:2188209-2188209 11:2166979-2166979 DYS154 Dystonia SLC2A1 NM_006516.3(SLC2A1):c.*322T>G SNV Uncertain significance 297376 rs886046340 1:43392390-43392390 1:42926719-42926719 DYS154 Dystonia SLC2A1 NM_006516.2(SLC2A1):c.-368A>C SNV Uncertain significance 297389 rs528964239 1:43424690-43424690 1:42959019-42959019 DYS154 Dystonia SLC2A1 NM_006516.2(SLC2A1):c.-384G>A SNV Uncertain significance 297390 rs886046345 1:43424706-43424706 1:42959035-42959035 DYS154 Dystonia SLC2A1 NM_006516.2(SLC2A1):c.-424C>G SNV Uncertain significance 297393 rs867977523 1:43424746-43424746 1:42959075-42959075 DYS154 Dystonia SLC2A1 NM_006516.2(SLC2A1):c.-272G>A SNV Uncertain significance 297388 rs886046344 1:43424594-43424594 1:42958923-42958923 DYS154 Dystonia TH NM_000360.4(TH):c.794G>A (p.Arg265Gln) SNV Uncertain significance 857525 11:2188164-2188164 11:2166934-2166934 DYS154 Dystonia TH NM_000360.4(TH):c.755T>C (p.Leu252Pro) SNV Uncertain significance 856885 11:2188203-2188203 11:2166973-2166973 DYS154 Dystonia TH NM_000360.4(TH):c.575C>T (p.Pro192Leu) SNV Uncertain significance 861757 11:2189322-2189322 11:2168092-2168092 DYS154 Dystonia TH NM_000360.4(TH):c.394G>A (p.Val132Met) SNV Uncertain significance 840771 11:2189814-2189814 11:2168584-2168584 DYS154 Dystonia TH NM_000360.4(TH):c.338T>C (p.Leu113Pro) SNV Uncertain significance 836034 11:2189870-2189870 11:2168640-2168640 DYS154 Dystonia TH NM_000360.4(TH):c.302A>G (p.Lys101Arg) SNV Uncertain significance 848515 11:2190890-2190890 11:2169660-2169660 DYS154 Dystonia TH NM_000360.4(TH):c.284C>T (p.Ala95Val) SNV Uncertain significance 839432 11:2190908-2190908 11:2169678-2169678 DYS154 Dystonia TH NM_000360.4(TH):c.167C>T (p.Ala56Val) SNV Uncertain significance 843655 11:2191025-2191025 11:2169795-2169795 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.816C>G (p.Asp272Glu) SNV Uncertain significance 859260 11:26552830-26552830 11:26531283-26531283 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.2014A>G (p.Lys672Glu) SNV Uncertain significance 851956 11:26656588-26656588 11:26635041-26635041 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.2905C>T (p.Arg969Trp) SNV Uncertain significance 862444 11:26681950-26681950 11:26660403-26660403 DYS154 Dystonia GNAL NM_182978.4(GNAL):c.1162G>A (p.Ala388Thr) SNV Uncertain significance 849455 18:11872397-11872397 18:11872398-11872398 DYS154 Dystonia GNAL NM_182978.4(GNAL):c.1241C>T (p.Thr414Met) SNV Uncertain significance 840710 18:11880998-11880998 18:11880999-11880999 DYS154 Dystonia SPR NM_003124.5(SPR):c.157G>C (p.Glu53Gln) SNV Uncertain significance 848713 2:73114718-73114718 2:72887589-72887589 DYS154 Dystonia SPR NM_003124.5(SPR):c.308C>G (p.Ser103Cys) SNV Uncertain significance 863750 2:73115446-73115446 2:72888317-72888317 DYS154 Dystonia SPR NM_003124.5(SPR):c.311T>C (p.Leu104Pro) SNV Uncertain significance 856279 2:73115449-73115449 2:72888320-72888320 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.1930G>A (p.Glu644Lys) SNV Uncertain significance 863324 9:130938643-130938643 9:128176364-128176364 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.1742C>T (p.Ala581Val) SNV Uncertain significance 836671 9:130939921-130939921 9:128177642-128177642 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.1542C>T (p.Ser514=) SNV Uncertain significance 839430 9:130940726-130940726 9:128178447-128178447 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.995C>T (p.Ser332Phe) SNV Uncertain significance 861733 9:130941491-130941491 9:128179212-128179212 DYS154 Dystonia TOR1A NM_000113.3(TOR1A):c.916T>G (p.Phe306Val) SNV Uncertain significance 841353 9:132576334-132576334 9:129814055-129814055 DYS154 Dystonia TOR1A NM_000113.3(TOR1A):c.769T>G (p.Leu257Val) SNV Uncertain significance 852503 9:132576481-132576481 9:129814202-129814202 DYS154 Dystonia TOR1A NM_000113.3(TOR1A):c.118C>G (p.Pro40Ala) SNV Uncertain significance 841814 9:132586247-132586247 9:129823968-129823968 DYS154 Dystonia DRD2 NM_000795.4(DRD2):c.781G>A (p.Gly261Arg) SNV Uncertain significance 862358 11:113285126-113285126 11:113414404-113414404 DYS154 Dystonia TH NM_000360.4(TH):c.685A>C (p.Ile229Leu) SNV Uncertain significance 834169 11:2188675-2188675 11:2167445-2167445 DYS154 Dystonia TH NM_000360.4(TH):c.1348C>T (p.Arg450Cys) SNV Uncertain significance 855929 11:2185609-2185609 11:2164379-2164379 DYS154 Dystonia TH NM_000360.4(TH):c.1297G>A (p.Val433Met) SNV Uncertain significance 857717 11:2186499-2186499 11:2165269-2165269 DYS154 Dystonia TH NM_000360.4(TH):c.1171G>A (p.Gly391Arg) SNV Uncertain significance 842658 11:2186927-2186927 11:2165697-2165697 DYS154 Dystonia TH NM_000360.4(TH):c.1121T>C (p.Val374Ala) SNV Uncertain significance 856884 11:2186977-2186977 11:2165747-2165747 DYS154 Dystonia TH NM_000360.4(TH):c.1076C>T (p.Ser359Leu) SNV Uncertain significance 857331 11:2187260-2187260 11:2166030-2166030 DYS154 Dystonia PANK2 NM_153638.3(PANK2):c.1432A>G (p.Lys478Glu) SNV Uncertain significance 812786 20:3897593-3897593 20:3916946-3916946 DYS154 Dystonia TH NM_000360.4(TH):c.1334+3G>C SNV Uncertain significance 654645 11:2186459-2186459 11:2165229-2165229 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.122C>T (p.Ala41Val) SNV Uncertain significance 579456 rs759292156 11:26463540-26463540 11:26441993-26441993 DYS154 Dystonia PRKRA NM_003690.5(PRKRA):c.397-7_397-6insCA insertion Uncertain significance 332629 rs768973196 2:179308117-179308118 2:178443390-178443391 DYS154 Dystonia THAP1 NM_018105.3(THAP1):c.*280dup duplication Uncertain significance 363118 rs886062946 8:42692824-42692825 8:42837681-42837682 DYS154 Dystonia SLC2A1 NM_006516.2(SLC2A1):c.-225T>G SNV Uncertain significance 297386 rs886046343 1:43424547-43424547 1:42958876-42958876 DYS154 Dystonia SLC2A1 NM_006516.2(SLC2A1):c.-388G>T SNV Uncertain significance 297391 rs544483207 1:43424710-43424710 1:42959039-42959039 DYS154 Dystonia SLC2A1 NM_006516.2(SLC2A1):c.-483G>T SNV Uncertain significance 297394 rs886046346 1:43424805-43424805 1:42959134-42959134 DYS154 Dystonia SLC2A1 NM_006516.2(SLC2A1):c.-510G>C SNV Uncertain significance 297396 rs886046347 1:43424832-43424832 1:42959161-42959161 DYS154 Dystonia PRKRA NM_003690.4(PRKRA):c.-149T>C SNV Uncertain significance 332642 rs559331370 2:179315906-179315906 2:178451179-178451179 DYS154 Dystonia PRKRA NM_003690.4(PRKRA):c.-174A>C SNV Uncertain significance 332643 rs886055205 2:179315931-179315931 2:178451204-178451204 DYS154 Dystonia THAP1 NM_018105.3(THAP1):c.*119del deletion Uncertain significance 363124 rs886062948 8:42692986-42692986 8:42837843-42837843 DYS154 Dystonia THAP1 NM_018105.3(THAP1):c.-169C>G SNV Uncertain significance 363132 rs886062950 8:42698406-42698406 8:42843263-42843263 DYS154 Dystonia TH NM_000360.4(TH):c.406G>A (p.Val136Met) SNV Uncertain significance 304078 rs142046543 11:2189802-2189802 11:2168572-2168572 DYS154 Dystonia TH NM_000360.4(TH):c.653C>T (p.Pro218Leu) SNV Uncertain significance 374731 rs377729019 11:2188707-2188707 11:2167477-2167477 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.704A>G (p.Tyr235Cys) SNV Uncertain significance 388790 rs144792604 11:26547193-26547193 11:26525646-26525646 DYS154 Dystonia FUS NM_004960.3(FUS):c.13+11_13+13del deletion Uncertain significance 374092 rs1057518893 16:31191558-31191560 16:31180237-31180239 DYS154 Dystonia ND4 NC_012920.1:m.12010C>T SNV Uncertain significance 370055 rs1057516066 MT:12010-12010 MT:12010-12010 DYS154 Dystonia DCTN1 NM_004082.4(DCTN1):c.581C>T (p.Pro194Leu) SNV Uncertain significance 373983 rs1057518814 2:74598728-74598728 2:74371601-74371601 DYS154 Dystonia SETX NM_015046.7(SETX):c.2607_2609del (p.Lys870del) deletion Uncertain significance 373903 rs781159054 9:135204376-135204378 9:132328989-132328991 DYS154 Dystonia TUBB4A NM_001289123.1(TUBB4A):c.*856G>A SNV Likely benign 369298 rs140030420 19:6494319-6494319 19:6494308-6494308 DYS154 Dystonia PRKRA NM_003690.4(PRKRA):c.-216G>A SNV Likely benign 369318 rs181659955 2:179315973-179315973 2:178451246-178451246 DYS154 Dystonia PJVK NM_001042702.4(PJVK):c.-28C>G SNV Likely benign 369319 rs74808009 2:179316491-179316491 2:178451764-178451764 DYS154 Dystonia PRKRA NM_001042702.4(PJVK):c.-28C>G SNV Likely benign 369319 rs74808009 2:179316491-179316491 2:178451764-178451764 DYS154 Dystonia SLC2A1 NM_006516.2(SLC2A1):c.-242C>T SNV Likely benign 297387 rs561646847 1:43424564-43424564 1:42958893-42958893 DYS154 Dystonia PRKRA NM_003690.4(PRKRA):c.-177G>A SNV Likely benign 332644 rs114562223 2:179315934-179315934 2:178451207-178451207 DYS154 Dystonia PRKRA NM_003690.4(PRKRA):c.-181C>T SNV Likely benign 332645 rs112215702 2:179315938-179315938 2:178451211-178451211 DYS154 Dystonia PRKRA NM_003690.5(PRKRA):c.515-11del deletion Likely benign 332627 rs199996045 2:179306442-179306442 2:178441715-178441715 DYS154 Dystonia TH NM_000360.4(TH):c.5C>T (p.Pro2Leu) SNV Likely benign 304087 rs139474171 11:2193012-2193012 11:2171782-2171782 DYS154 Dystonia DRD2 NM_000795.4(DRD2):c.1236G>A (p.Thr412=) SNV Likely benign 695465 11:113281545-113281545 11:113410823-113410823 DYS154 Dystonia DRD2 NM_000795.4(DRD2):c.966C>T (p.Pro322=) SNV Likely benign 696320 11:113283450-113283450 11:113412728-113412728 DYS154 Dystonia DRD2 NM_000795.4(DRD2):c.191C>T (p.Ala64Val) SNV Likely benign 696532 11:113295183-113295183 11:113424461-113424461 DYS154 Dystonia DRD2 NM_000795.4(DRD2):c.69C>T (p.Asn23=) SNV Likely benign 695731 11:113295305-113295305 11:113424583-113424583 DYS154 Dystonia TH NM_000360.4(TH):c.594G>T (p.Val198=) SNV Likely benign 696505 11:2189146-2189146 11:2167916-2167916 DYS154 Dystonia TH NM_000360.4(TH):c.195G>A (p.Gly65=) SNV Likely benign 697333 11:2190997-2190997 11:2169767-2169767 DYS154 Dystonia TH NM_000360.4(TH):c.91-828C>T SNV Likely benign 695989 11:2191929-2191929 11:2170699-2170699 DYS154 Dystonia TH NM_000360.4(TH):c.576+8G>T SNV Likely benign 695819 11:2189313-2189313 11:2168083-2168083 DYS154 Dystonia TH NM_000360.4(TH):c.1476G>A (p.Ala492=) SNV Likely benign 698716 11:2185481-2185481 11:2164251-2164251 DYS154 Dystonia TH NM_000360.4(TH):c.1389G>A (p.Thr463=) SNV Likely benign 699902 11:2185568-2185568 11:2164338-2164338 DYS154 Dystonia TH NM_000360.4(TH):c.1254C>T (p.Ala418=) SNV Likely benign 701943 11:2186542-2186542 11:2165312-2165312 DYS154 Dystonia TH NM_000360.4(TH):c.1251G>A (p.Ala417=) SNV Likely benign 699335 11:2186545-2186545 11:2165315-2165315 DYS154 Dystonia TH NM_000360.4(TH):c.1227T>C (p.Ile409=) SNV Likely benign 699347 11:2186569-2186569 11:2165339-2165339 DYS154 Dystonia TH NM_000360.4(TH):c.1077G>A (p.Ser359=) SNV Likely benign 700573 11:2187259-2187259 11:2166029-2166029 DYS154 Dystonia TH NM_000360.4(TH):c.873C>T (p.Ala291=) SNV Likely benign 701681 11:2187967-2187967 11:2166737-2166737 DYS154 Dystonia TH NM_000360.4(TH):c.474C>T (p.Pro158=) SNV Likely benign 700283 11:2189734-2189734 11:2168504-2168504 DYS154 Dystonia TH NM_000360.4(TH):c.459G>A (p.Glu153=) SNV Likely benign 698440 11:2189749-2189749 11:2168519-2168519 DYS154 Dystonia TH NM_000360.4(TH):c.426C>T (p.Ala142=) SNV Likely benign 701481 11:2189782-2189782 11:2168552-2168552 DYS154 Dystonia TH NM_000360.4(TH):c.372G>A (p.Gly124=) SNV Likely benign 698834 11:2189836-2189836 11:2168606-2168606 DYS154 Dystonia TH NM_000360.4(TH):c.126C>A (p.Ile42=) SNV Likely benign 700255 11:2191066-2191066 11:2169836-2169836 DYS154 Dystonia TH NM_000360.4(TH):c.96G>A (p.Pro32=) SNV Likely benign 701386 11:2191096-2191096 11:2169866-2169866 DYS154 Dystonia TH NM_000360.4(TH):c.81G>A (p.Glu27=) SNV Likely benign 755360 11:2192936-2192936 11:2171706-2171706 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.588+10A>T SNV Likely benign 751127 9:130947816-130947816 9:128185537-128185537 DYS154 Dystonia TH NM_000360.4(TH):c.91-904C>T SNV Likely benign 750839 11:2192005-2192005 11:2170775-2170775 DYS154 Dystonia TH NM_000360.4(TH):c.402C>T (p.Leu134=) SNV Likely benign 799962 11:2189806-2189806 11:2168576-2168576 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.1593G>A (p.Thr531=) SNV Likely benign 798193 11:26620467-26620467 11:26598920-26598920 DYS154 Dystonia TH NM_000360.4(TH):c.91-903C>A SNV Likely benign 797638 11:2192004-2192004 11:2170774-2170774 DYS154 Dystonia TH NM_000360.4(TH):c.786C>T (p.Ser262=) SNV Likely benign 709609 11:2188172-2188172 11:2166942-2166942 DYS154 Dystonia TH NM_000360.4(TH):c.644+10C>T SNV Likely benign 710402 11:2189086-2189086 11:2167856-2167856 DYS154 Dystonia TOR1A NM_000113.3(TOR1A):c.291G>A (p.Thr97=) SNV Likely benign 704996 9:132585013-132585013 9:129822734-129822734 DYS154 Dystonia TH NM_000360.4(TH):c.24G>A (p.Thr8=) SNV Likely benign 698725 11:2192993-2192993 11:2171763-2171763 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.180C>T (p.Thr60=) SNV Likely benign 697499 11:26463598-26463598 11:26442051-26442051 DYS154 Dystonia TH NM_000360.4(TH):c.1128C>T (p.Phe376=) SNV Likely benign 702397 11:2186970-2186970 11:2165740-2165740 DYS154 Dystonia TH NM_000360.4(TH):c.582C>A (p.Phe194Leu) SNV Likely benign 706645 11:2189158-2189158 11:2167928-2167928 DYS154 Dystonia TH NM_000360.4(TH):c.462C>T (p.Asp154=) SNV Likely benign 702644 11:2189746-2189746 11:2168516-2168516 DYS154 Dystonia TH NM_000360.4(TH):c.346C>A (p.Arg116=) SNV Likely benign 704374 11:2189862-2189862 11:2168632-2168632 DYS154 Dystonia TH NM_000360.4(TH):c.1334+9G>A SNV Likely benign 703075 11:2186453-2186453 11:2165223-2165223 DYS154 Dystonia TH NM_000360.4(TH):c.487+8G>A SNV Likely benign 704563 11:2189713-2189713 11:2168483-2168483 DYS154 Dystonia TH NM_000360.4(TH):c.1389G>T (p.Thr463=) SNV Likely benign 772205 11:2185568-2185568 11:2164338-2164338 DYS154 Dystonia TH NM_000360.4(TH):c.1377C>T (p.Phe459=) SNV Likely benign 772206 11:2185580-2185580 11:2164350-2164350 DYS154 Dystonia TH NM_000360.4(TH):c.132C>T (p.Asp44=) SNV Likely benign 766838 11:2191060-2191060 11:2169830-2169830 DYS154 Dystonia TH NM_000360.4(TH):c.126C>T (p.Ile42=) SNV Likely benign 771982 11:2191066-2191066 11:2169836-2169836 DYS154 Dystonia TH NM_000360.4(TH):c.1290C>T (p.Val430=) SNV Likely benign 710552 11:2186506-2186506 11:2165276-2165276 DYS154 Dystonia TH NM_000360.4(TH):c.729C>T (p.Tyr243=) SNV Likely benign 242256 rs878855308 11:2188229-2188229 11:2166999-2166999 DYS154 Dystonia TH NM_000360.4(TH):c.685A>T (p.Ile229Phe) SNV Likely benign 571044 rs778613708 11:2188675-2188675 11:2167445-2167445 DYS154 Dystonia TH NM_000360.4(TH):c.978-10C>T SNV Likely benign 417040 rs752258129 11:2187789-2187789 11:2166559-2166559 DYS154 Dystonia DRD2 NM_000795.4(DRD2):c.1305G>A (p.Lys435=) SNV Likely benign 416373 rs77930100 11:113281476-113281476 11:113410754-113410754 DYS154 Dystonia TH NM_000360.4(TH):c.153G>A (p.Ala51=) SNV Likely benign 455994 rs149580405 11:2191039-2191039 11:2169809-2169809 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.2043+9C>A SNV Likely benign 455988 rs575055116 11:26656626-26656626 11:26635079-26635079 DYS154 Dystonia TH NM_000360.4(TH):c.168G>A (p.Ala56=) SNV Likely benign 455995 rs776640286 11:2191024-2191024 11:2169794-2169794 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.534T>C (p.Asp178=) SNV Likely benign 455990 rs201744356 11:26529752-26529752 11:26508205-26508205 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.1290-6C>T SNV Likely benign 455985 rs770584529 11:26574790-26574790 11:26553243-26553243 DYS154 Dystonia SPR NM_003124.5(SPR):c.639C>T (p.Ser213=) SNV Likely benign 513886 rs113668841 2:73118519-73118519 2:72891390-72891390 DYS154 Dystonia SPR NM_003124.5(SPR):c.642G>A (p.Val214=) SNV Likely benign 526218 rs1553498588 2:73118522-73118522 2:72891393-72891393 DYS154 Dystonia SPR NM_003124.5(SPR):c.84C>G (p.Ala28=) SNV Likely benign 526225 rs370621751 2:73114645-73114645 2:72887516-72887516 DYS154 Dystonia GNAL NM_182978.4(GNAL):c.447C>T (p.Pro149=) SNV Likely benign 526227 rs374877331 18:11752922-11752922 18:11752923-11752923 DYS154 Dystonia GNAL NM_182978.4(GNAL):c.540A>G (p.Pro180=) SNV Likely benign 526226 rs182262644 18:11753860-11753860 18:11753861-11753861 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.47-10G>C SNV Likely benign 526228 rs199705068 11:26463455-26463455 11:26441908-26441908 DYS154 Dystonia TH NM_000360.4(TH):c.842-6T>C SNV Likely benign 526230 rs1363004689 11:2188004-2188004 11:2166774-2166774 DYS154 Dystonia TH NM_000360.4(TH):c.549C>T (p.Phe183=) SNV Likely benign 526220 rs756278325 11:2189348-2189348 11:2168118-2168118 DYS154 Dystonia TH NM_000360.4(TH):c.414A>C (p.Arg138=) SNV Likely benign 526224 rs528105731 11:2189794-2189794 11:2168564-2168564 DYS154 Dystonia TOR1A NM_000113.3(TOR1A):c.488C>T (p.Ala163Val) SNV Benign/Likely benign 408885 rs142909469 9:132581156-132581156 9:129818877-129818877 DYS154 Dystonia TH NM_000360.4(TH):c.684G>A (p.Glu228=) SNV Benign/Likely benign 242255 rs11564716 11:2188676-2188676 11:2167446-2167446 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.1968C>T (p.Ile656=) SNV Benign/Likely benign 241616 rs149050831 11:26655845-26655845 11:26634298-26634298 DYS154 Dystonia SPR NM_003124.5(SPR):c.112G>A (p.Val38Ile) SNV Benign/Likely benign 239509 rs146099322 2:73114673-73114673 2:72887544-72887544 DYS154 Dystonia TOR1A NM_000113.3(TOR1A):c.561C>T (p.Leu187=) SNV Benign/Likely benign 695881 9:132581083-132581083 9:129818804-129818804 DYS154 Dystonia TH NM_000360.4(TH):c.627C>G (p.Ile209Met) SNV Benign/Likely benign 304077 rs202149985 11:2189113-2189113 11:2167883-2167883 DYS154 Dystonia INS NM_000360.4(TH):c.1278G>A (p.Thr426=) SNV Benign/Likely benign 304069 rs36097848 11:2186518-2186518 11:2165288-2165288 DYS154 Dystonia TH NM_000360.4(TH):c.1278G>A (p.Thr426=) SNV Benign/Likely benign 304069 rs36097848 11:2186518-2186518 11:2165288-2165288 DYS154 Dystonia DRD2 NM_000795.4(DRD2):c.423G>A (p.Leu141=) SNV Benign/Likely benign 238185 rs1800499 11:113287694-113287694 11:113416972-113416972 DYS154 Dystonia TOR1A NM_000113.3(TOR1A):c.26G>C (p.Gly9Ala) SNV Benign/Likely benign 365234 rs200493208 9:132586339-132586339 9:129824060-129824060 DYS154 Dystonia INS NM_000360.4(TH):c.1200+9C>T SNV Benign/Likely benign 263251 rs11564717 11:2186889-2186889 11:2165659-2165659 DYS154 Dystonia TH NM_000360.4(TH):c.1200+9C>T SNV Benign/Likely benign 263251 rs11564717 11:2186889-2186889 11:2165659-2165659 DYS154 Dystonia TH NM_000360.4(TH):c.267G>A (p.Arg89=) SNV Benign/Likely benign 263254 rs76240471 11:2190925-2190925 11:2169695-2169695 DYS154 Dystonia PRKRA NM_003690.5(PRKRA):c.610-11_610-10del short repeat Benign/Likely benign 332625 rs138320145 2:179301056-179301057 2:178436329-178436330 DYS154 Dystonia PRKRA NM_003690.5(PRKRA):c.173A>G (p.Asp58Gly) SNV Benign/Likely benign 332631 rs61999302 2:179315031-179315031 2:178450304-178450304 DYS154 Dystonia PJVK NM_003690.5(PRKRA):c.20_21GC[1] (p.Ala8fs) short repeat Benign/Likely benign 332634 rs141354030 2:179315735-179315736 2:178451008-178451009 DYS154 Dystonia PRKRA NM_003690.5(PRKRA):c.20_21GC[1] (p.Ala8fs) short repeat Benign/Likely benign 332634 rs141354030 2:179315735-179315736 2:178451008-178451009 DYS154 Dystonia PJVK NM_003690.5(PRKRA):c.32C>T (p.Pro11Leu) SNV Benign/Likely benign 332633 rs62176112 2:179315726-179315726 2:178450999-178450999 DYS154 Dystonia PRKRA NM_003690.5(PRKRA):c.32C>T (p.Pro11Leu) SNV Benign/Likely benign 332633 rs62176112 2:179315726-179315726 2:178450999-178450999 DYS154 Dystonia PJVK NM_003690.5(PRKRA):c.1A>C (p.Met1Leu) SNV Benign/Likely benign 332635 rs9406386 2:179315757-179315757 2:178451030-178451030 DYS154 Dystonia PRKRA NM_003690.5(PRKRA):c.1A>C (p.Met1Leu) SNV Benign/Likely benign 332635 rs9406386 2:179315757-179315757 2:178451030-178451030 DYS154 Dystonia PJVK NM_003690.5(PRKRA):c.-24G>A SNV Benign/Likely benign 332637 rs62176113 2:179315781-179315781 2:178451054-178451054 DYS154 Dystonia PRKRA NM_003690.5(PRKRA):c.-24G>A SNV Benign/Likely benign 332637 rs62176113 2:179315781-179315781 2:178451054-178451054 DYS154 Dystonia INS NM_000360.4(TH):c.1401C>T (p.Asp467=) SNV Benign/Likely benign 304066 rs3842724 11:2185556-2185556 11:2164326-2164326 DYS154 Dystonia TH NM_000360.4(TH):c.1401C>T (p.Asp467=) SNV Benign/Likely benign 304066 rs3842724 11:2185556-2185556 11:2164326-2164326 DYS154 Dystonia TH NM_000360.4(TH):c.313-9C>T SNV Benign 304082 rs538345855 11:2189904-2189904 11:2168674-2168674 DYS154 Dystonia PRKRA NM_003690.5(PRKRA):c.*435_*438ATTG[1] short repeat Benign 332612 rs3997880 2:179296382-179296385 2:178431655-178431658 DYS154 Dystonia TH NM_000360.4(TH):c.210T>C (p.Ala70=) SNV Benign 263253 rs7950050 11:2190982-2190982 11:2169752-2169752 DYS154 Dystonia TH NM_000360.4(TH):c.186G>A (p.Ser62=) SNV Benign 263252 rs34510659 11:2191006-2191006 11:2169776-2169776 DYS154 Dystonia DRD2 NM_000795.4(DRD2):c.932C>G (p.Ser311Cys) SNV Benign 256813 rs1801028 11:113283484-113283484 11:113412762-113412762 DYS154 Dystonia PRKRA NM_003690.5(PRKRA):c.*573_*575dup duplication Benign 332611 rs145339215 2:179296248-179296249 2:178431521-178431522 DYS154 Dystonia TH NM_000360.4(TH):c.1035G>T (p.Ala345=) SNV Benign 304073 rs11826260 11:2187722-2187722 11:2166492-2166492 DYS154 Dystonia GNAL NM_182978.4(GNAL):c.744C>T (p.Ser248=) SNV Benign 701450 18:11862415-11862415 18:11862416-11862416 DYS154 Dystonia TH NM_000360.4(TH):c.66C>T (p.Asp22=) SNV Benign 696451 11:2192951-2192951 11:2171721-2171721 DYS154 Dystonia GNAL NM_182978.4(GNAL):c.1044C>A (p.Thr348=) SNV Benign 696397 18:11872279-11872279 18:11872280-11872280 DYS154 Dystonia DRD2 NM_000795.4(DRD2):c.156C>T (p.Asn52=) SNV Benign 702278 11:113295218-113295218 11:113424496-113424496 DYS154 Dystonia TH NM_000360.4(TH):c.51C>T (p.Ala17=) SNV Benign 698378 11:2192966-2192966 11:2171736-2171736 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.870-7T>C SNV Benign 696077 11:26555996-26555996 11:26534449-26534449 DYS154 Dystonia GNAL NM_182978.4(GNAL):c.910+5T>C SNV Benign 696293 18:11867230-11867230 18:11867231-11867231 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.870G>A (p.Pro290=) SNV Benign 700192 9:130941616-130941616 9:128179337-128179337 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.753T>C (p.Pro251=) SNV Benign 698869 9:130942732-130942732 9:128180453-128180453 DYS154 Dystonia DRD2 NM_000795.4(DRD2):c.60G>A (p.Arg20=) SNV Benign 695347 11:113295314-113295314 11:113424592-113424592 DYS154 Dystonia DRD2 NM_000795.4(DRD2):c.78C>T (p.Asp26=) SNV Benign 697063 11:113295296-113295296 11:113424574-113424574 DYS154 Dystonia DRD2 NM_000795.4(DRD2):c.852C>T (p.Leu284=) SNV Benign 695414 11:113283564-113283564 11:113412842-113412842 DYS154 Dystonia DRD2 NM_000795.4(DRD2):c.741C>T (p.Pro247=) SNV Benign 695880 11:113285166-113285166 11:113414444-113414444 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.1199T>C (p.Leu400Pro) SNV Benign 696417 9:130941287-130941287 9:128179008-128179008 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.2562C>T (p.Asn854=) SNV Benign 695540 9:130928611-130928611 9:128166332-128166332 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.1197G>A (p.Pro399=) SNV Benign 695630 9:130941289-130941289 9:128179010-128179010 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.2205C>T (p.Asp735=) SNV Benign 240852 rs41276236 9:130931421-130931421 9:128169142-128169142 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.1170G>T (p.Gln390His) SNV Benign 240851 rs61740197 9:130941316-130941316 9:128179037-128179037 DYS154 Dystonia DRD2 NM_000795.4(DRD2):c.1228G>A (p.Ala410Thr) SNV Benign 238184 rs758683320 11:113281553-113281553 11:113410831-113410831 DYS154 Dystonia DRD2 NM_000795.4(DRD2):c.979A>G (p.Lys327Glu) SNV Benign 238186 rs71653614 11:113283437-113283437 11:113412715-113412715 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.2535C>T (p.Tyr845=) SNV Benign 241617 rs138168552 11:26669362-26669362 11:26647815-26647815 DYS154 Dystonia GNAL NM_182978.4(GNAL):c.377-354C>T SNV Benign 238559 rs73397885 18:11752498-11752498 18:11752499-11752499 DYS154 Dystonia TH NM_000360.4(TH):c.487+3G>A SNV Benign 242254 rs11042950 11:2189718-2189718 11:2168488-2168488 DYS154 Dystonia TH NM_000360.4(TH):c.264G>A (p.Pro88=) SNV Benign 242253 rs113140700 11:2190928-2190928 11:2169698-2169698 DYS154 Dystonia SLC2A1 NM_006516.2(SLC2A1):c.-390delA deletion Benign 297392 rs28365848 1:43424712-43424712 1:42959041-42959041 DYS154 Dystonia SLC2A1 NM_006516.2(SLC2A1):c.-490G>C SNV Benign 297395 rs3754226 1:43424812-43424812 1:42959141-42959141 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.2540G>A (p.Arg847Gln) SNV Benign 413837 rs11549260 9:130928633-130928633 9:128166354-128166354 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.1365A>G (p.Val455=) SNV Benign 413838 rs11549263 9:130941121-130941121 9:128178842-128178842 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.1227C>A (p.Pro409=) SNV Benign 413831 rs45559035 9:130941259-130941259 9:128178980-128178980 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.683-7A>G SNV Benign 413840 rs45518842 9:130942809-130942809 9:128180530-128180530 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.1733C>T (p.Ser578Phe) SNV Benign 413839 rs12334 9:130939930-130939930 9:128177651-128177651 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.708G>A (p.Glu236=) SNV Benign 413835 rs114440041 9:130942777-130942777 9:128180498-128180498 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.396C>T (p.Leu132=) SNV Benign 413833 rs45545033 9:130948018-130948018 9:128185739-128185739 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.1035G>A (p.Ala345=) SNV Benign 413836 rs45536439 9:130941451-130941451 9:128179172-128179172 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.696G>A (p.Pro232=) SNV Benign 413830 rs45579839 9:130942789-130942789 9:128180510-128180510 DYS154 Dystonia DRD2 NM_000795.4(DRD2):c.132C>T (p.Leu44=) SNV Benign 416374 rs4986918 11:113295242-113295242 11:113424520-113424520 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.1957A>C (p.Arg653=) SNV Benign 413832 rs45611034 9:130932373-130932373 9:128170094-128170094 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.655G>A (p.Ala219Thr) SNV Benign 413834 rs45588035 9:130943027-130943027 9:128180748-128180748 DYS154 Dystonia SPR NM_003124.5(SPR):c.785A>G (p.Ter262=) SNV Benign 412652 rs145082655 2:73118665-73118665 2:72891536-72891536 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.2811C>T (p.Asp937=) SNV Benign 412868 rs117748217 11:26681856-26681856 11:26660309-26660309 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.977-6T>C SNV Benign 412869 rs3802751 11:26558947-26558947 11:26537400-26537400 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.1352C>T (p.Ala451Val) SNV Benign 455981 rs57561786 9:130941134-130941134 9:128178855-128178855 DYS154 Dystonia CIZ1 NM_001131016.2(CIZ1):c.1109A>G (p.Glu370Gly) SNV Benign 455980 rs45554035 9:130941377-130941377 9:128179098-128179098 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.164C>T (p.Ser55Phe) SNV Benign 412872 rs61746297 11:26463582-26463582 11:26442035-26442035 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.1290-5_1290-4del short repeat Benign 412867 rs202169392 11:26574789-26574790 11:26553242-26553243 DYS154 Dystonia TH NM_000360.4(TH):c.579C>T (p.Gly193=) SNV Benign 417039 rs147852210 11:2189161-2189161 11:2167931-2167931 DYS154 Dystonia ANO3 NM_031418.4(ANO3):c.2817A>G (p.Pro939=) SNV Benign 412871 rs150506041 11:26681862-26681862 11:26660315-26660315 DYS154 Dystonia GNAL NM_182978.4(GNAL):c.261G>A (p.Glu87=) SNV Benign 416013 rs181443061 18:11689823-11689823 18:11689824-11689824 DYS154 Dystonia GNAL NM_182978.4(GNAL):c.1245C>T (p.Ala415=) SNV Benign 416012 rs41289504 18:11881002-11881002 18:11881003-11881003 DYS154 Dystonia GNAL NM_182978.4(GNAL):c.377-307_377-302del deletion Benign 416014 rs1060504720 18:11752545-11752550 18:11752546-11752551 DYS154 Dystonia DRD2 NM_000795.4(DRD2):c.153C>A (p.Gly51=) SNV Benign 526229 rs80030508 11:113295221-113295221 11:113424499-113424499 DYS154 Dystonia TH NM_000360.4(TH):c.312+289G>C SNV Benign 526231 rs7482510 11:2190591-2190591 11:2169361-2169361 DYS154 Dystonia GNAL NM_182978.4(GNAL):c.357G>T (p.Thr119=) SNV Benign 526219 rs747999584 18:11689919-11689919 18:11689920-11689920 DYS154 Dystonia GNAL NM_182978.4(GNAL):c.591C>T (p.Ser197=) SNV Benign 455978 rs76888098 18:11753911-11753911 18:11753912-11753912 DYS154 Dystonia DRD2 NM_000795.4(DRD2):c.870C>G (p.Pro290=) SNV Benign 455976 rs74548208 11:113283546-113283546 11:113412824-113412824 DYS154 Dystonia DRD2 NM_000795.4(DRD2):c.285+7G>A SNV Benign 455975 rs76985854 11:113295082-113295082 11:113424360-113424360 DYS154 Dystonia GNAL NM_182978.4(GNAL):c.1109C>A (p.Ser370Ter) SNV Pathogenic 39968 rs398122924 18:11872344-11872344 18:11872345-11872345 DYS151 Dystonia 25 GNAL NM_182978.4(GNAL):c.640G>A (p.Val214Met) SNV Pathogenic 39967 rs398122923 18:11824932-11824932 18:11824933-11824933 DYS151 Dystonia 25 GNAL NM_182978.4(GNAL):c.694G>A (p.Glu232Lys) SNV Pathogenic 39969 rs398122925 18:11824986-11824986 18:11824987-11824987 DYS151 Dystonia 25 GNAL NM_182978.4(GNAL):c.514dup (p.Ser172fs) duplication Pathogenic 39970 rs398122926 18:11753831-11753832 18:11753832-11753833 DYS151 Dystonia 25 GNAL NM_182978.4(GNAL):c.822dup (p.Arg275fs) duplication Pathogenic 39971 rs398122927 18:11864575-11864576 18:11864576-11864577 DYS151 Dystonia 25 GNAL NM_182978.4(GNAL):c.377-359C>T SNV Pathogenic 39972 rs398122928 18:11752493-11752493 18:11752494-11752494 DYS151 Dystonia 25 GNAL NM_182978.4(GNAL):c.505-5T>C SNV Pathogenic 626332 rs766177601 18:11753820-11753820 18:11753821-11753821 DYS151 Dystonia 25 GNAL NM_182978.4(GNAL):c.964C>T (p.Arg322Ter) SNV Pathogenic 626333 rs1252185897 18:11868595-11868595 18:11868596-11868596 DYS151 Dystonia 25 GNAL NM_182978.4(GNAL):c.764C>T (p.Thr255Ile) SNV Uncertain significance 803476 18:11862435-11862435 18:11862436-11862436 DYS151 Dystonia 25 GNAL NM_182978.4(GNAL):c.1163-7T>G SNV Benign 626331 rs3892113 18:11876613-11876613 18:11876614-11876614 DYS151 Dystonia 25 MECR NC_000001.11:g.29203234del deletion Pathogenic 807442 1:29529743-29529743 1:29203231-29203231 DYS187 Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities MECR NM_016011.4(MECR):c.772C>T (p.Arg258Trp) SNV Pathogenic 374882 rs145192716 1:29527086-29527086 1:29200574-29200574 DYS187 Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities MECR NM_016011.5(MECR):c.247_250del (p.Asn83fs) deletion Pathogenic 374883 rs1057519287 1:29543124-29543127 1:29216612-29216615 DYS187 Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities MECR NM_016011.5(MECR):c.855T>G (p.Tyr285Ter) SNV Pathogenic/Likely pathogenic 374879 rs1057519286 1:29522746-29522746 1:29196234-29196234 DYS187 Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities MECR NM_016011.5(MECR):c.854A>G (p.Tyr285Cys) SNV Pathogenic/Likely pathogenic 374881 rs759218713 1:29522747-29522747 1:29196235-29196235 DYS187 Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities MECR NM_016011.5(MECR):c.830+2dup duplication Pathogenic/Likely pathogenic 449055 rs756421370 1:29527026-29527026 1:29200513-29200514 DYS187 Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities MECR NM_016011.5(MECR):c.695G>A (p.Gly232Glu) SNV Likely pathogenic 374878 rs762913101 1:29528516-29528516 1:29202004-29202004 DYS187 Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities MECR NM_016011.4(MECR):c.-36-3G>C SNV Uncertain significance 522856 rs749435497 1:29557457-29557457 1:29230945-29230945 DYS187 Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities SLC25A22 NM_001191061.2(SLC25A22):c.811_812TG[1] (p.Ala272fs) short repeat Pathogenic 618891 rs1565035177 11:792146-792147 11:792146-792147 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.818G>A (p.Arg273Lys) SNV Pathogenic 626258 rs1195505218 11:792142-792142 11:792142-792142 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.706G>T (p.Gly236Trp) SNV Pathogenic 1776 rs121918335 11:792340-792340 11:792340-792340 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.328G>C (p.Gly110Arg) SNV Pathogenic 120308 rs587777243 11:792954-792954 11:792954-792954 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.418C>T (p.Gln140Ter) SNV Pathogenic 212198 rs797045969 11:792722-792722 11:792722-792722 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.394C>T (p.Gln132Ter) SNV Pathogenic/Likely pathogenic 436749 rs1554965669 11:792888-792888 11:792888-792888 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.617C>T (p.Pro206Leu) SNV Likely pathogenic 1775 rs121918334 11:792429-792429 11:792429-792429 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.743-12C>T SNV Conflicting interpretations of pathogenicity 139144 rs200517971 11:792229-792229 11:792229-792229 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) SNV Conflicting interpretations of pathogenicity 139145 rs146300431 11:792011-792011 11:792011-792011 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.897C>T (p.Phe299=) SNV Conflicting interpretations of pathogenicity 159918 rs7124179 11:791990-791990 11:791990-791990 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.-151G>A SNV Conflicting interpretations of pathogenicity 139129 rs587781167 11:795157-795157 11:795157-795157 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=) SNV Conflicting interpretations of pathogenicity 139130 rs146402942 11:794790-794790 11:794790-794790 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn) SNV Conflicting interpretations of pathogenicity 139131 rs116134953 11:794509-794509 11:794509-794509 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.413-12C>T SNV Conflicting interpretations of pathogenicity 139135 rs587781169 11:792739-792739 11:792739-792739 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.413-8G>C SNV Conflicting interpretations of pathogenicity 139136 rs376015598 11:792735-792735 11:792735-792735 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=) SNV Conflicting interpretations of pathogenicity 139138 rs374780430 11:792645-792645 11:792645-792645 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.570C>T (p.Leu190=) SNV Conflicting interpretations of pathogenicity 139139 rs145322467 11:792570-792570 11:792570-792570 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=) SNV Conflicting interpretations of pathogenicity 139140 rs147840220 11:792555-792555 11:792555-792555 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.453G>A (p.Ser151=) SNV Conflicting interpretations of pathogenicity 588331 rs559239495 11:792687-792687 11:792687-792687 ERL001 Early Myoclonic Encephalopathy CHRNA2 NM_000742.4(CHRNA2):c.202C>T (p.Arg68Trp) SNV Conflicting interpretations of pathogenicity 204982 rs376970816 8:27327370-27327370 8:27469853-27469853 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.500G>A (p.Arg167Gln) SNV Conflicting interpretations of pathogenicity 207153 rs201089795 11:792640-792640 11:792640-792640 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.726C>T (p.Ala242=) SNV Conflicting interpretations of pathogenicity 284896 rs771026197 11:792320-792320 11:792320-792320 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.651G>A (p.Pro217=) SNV Conflicting interpretations of pathogenicity 306264 rs768604742 11:792395-792395 11:792395-792395 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.742+9A>G SNV Conflicting interpretations of pathogenicity 306260 rs370309722 11:792295-792295 11:792295-792295 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.150C>T (p.Ser50=) SNV Conflicting interpretations of pathogenicity 306268 rs201574228 11:794510-794510 11:794510-794510 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.678C>T (p.Tyr226=) SNV Conflicting interpretations of pathogenicity 306262 rs200072903 11:792368-792368 11:792368-792368 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2579A>G (p.Tyr860Cys) SNV Conflicting interpretations of pathogenicity 460231 rs201696710 10:64973348-64973348 10:63213588-63213588 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2322A>C (p.Leu774Phe) SNV Uncertain significance 460229 rs1414243223 10:64973605-64973605 10:63213845-63213845 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2246T>G (p.Leu749Ter) SNV Uncertain significance 460227 rs1554840033 10:64973681-64973681 10:63213921-63213921 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1387C>T (p.His463Tyr) SNV Uncertain significance 460215 rs61757562 10:64974540-64974540 10:63214780-63214780 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.663C>A (p.Ile221=) SNV Uncertain significance 460270 rs144745368 10:64976982-64976982 10:63217222-63217222 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5075-5del deletion Uncertain significance 460257 rs779803861 10:64960442-64960442 10:63200682-63200682 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4825A>G (p.Lys1609Glu) SNV Uncertain significance 460254 rs189704160 10:64966604-64966604 10:63206844-63206844 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5396T>C (p.Ile1799Thr) SNV Uncertain significance 460259 rs367650429 10:64958368-64958368 10:63198608-63198608 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3308A>G (p.Asn1103Ser) SNV Uncertain significance 460238 rs751756118 10:64968121-64968121 10:63208361-63208361 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2377C>T (p.Pro793Ser) SNV Uncertain significance 460230 rs761363257 10:64973550-64973550 10:63213790-63213790 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.6989T>C (p.Ile2330Thr) SNV Uncertain significance 460275 rs1554828044 10:64943302-64943302 10:63183542-63183542 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.6527G>A (p.Ser2176Asn) SNV Uncertain significance 460268 rs1554829957 10:64948971-64948971 10:63189211-63189211 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4871C>T (p.Ser1624Phe) SNV Uncertain significance 460256 rs760860474 10:64966558-64966558 10:63206798-63206798 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4358C>T (p.Thr1453Ile) SNV Uncertain significance 460246 rs778255192 10:64967071-64967071 10:63207311-63207311 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3295A>G (p.Asn1099Asp) SNV Uncertain significance 460237 rs747004650 10:64968134-64968134 10:63208374-63208374 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.800A>G (p.Asn267Ser) SNV Uncertain significance 460282 rs369156176 10:64975335-64975335 10:63215575-63215575 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5122C>G (p.Leu1708Val) SNV Uncertain significance 460258 rs372791018 10:64960390-64960390 10:63200630-63200630 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.647T>A (p.Phe216Tyr) SNV Uncertain significance 460266 rs1554841947 10:64976998-64976998 10:63217238-63217238 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1573A>G (p.Asn525Asp) SNV Uncertain significance 460221 rs188760754 10:64974354-64974354 10:63214594-63214594 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1529T>C (p.Ile510Thr) SNV Uncertain significance 460218 rs371173613 10:64974398-64974398 10:63214638-63214638 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1010G>A (p.Arg337Gln) SNV Uncertain significance 460209 rs760250621 10:64975028-64975028 10:63215268-63215268 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.1325A>G (p.Asn442Ser) SNV Uncertain significance 529706 rs957617040 7:120381634-120381634 7:120741580-120741580 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.1616G>A (p.Arg539His) SNV Uncertain significance 529715 rs376772376 7:120385982-120385982 7:120745928-120745928 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.1468-3C>T SNV Uncertain significance 529701 rs780123780 7:120385831-120385831 7:120745777-120745777 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.6280A>G (p.Met2094Val) SNV Uncertain significance 529697 rs762875350 10:64950665-64950665 10:63190905-63190905 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.6136G>C (p.Glu2046Gln) SNV Uncertain significance 529707 rs376454657 10:64950809-64950809 10:63191049-63191049 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4763C>A (p.Ala1588Asp) SNV Uncertain significance 529710 rs1404794797 10:64966666-64966666 10:63206906-63206906 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3593G>A (p.Arg1198His) SNV Uncertain significance 529704 rs766251480 10:64967836-64967836 10:63208076-63208076 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3553A>C (p.Ser1185Arg) SNV Uncertain significance 529700 rs1441865798 10:64967876-64967876 10:63208116-63208116 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5964C>A (p.Ser1988Arg) SNV Uncertain significance 529699 rs1554831457 10:64952810-64952810 10:63193050-63193050 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4102T>A (p.Ser1368Thr) SNV Uncertain significance 529716 rs747127923 10:64967327-64967327 10:63207567-63207567 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1133G>C (p.Ser378Thr) SNV Uncertain significance 529703 rs1554840969 10:64974794-64974794 10:63215034-63215034 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.6487T>G (p.Cys2163Gly) SNV Uncertain significance 529709 rs1554829980 10:64949011-64949011 10:63189251-63189251 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2885C>T (p.Ala962Val) SNV Uncertain significance 529714 rs762134268 10:64968544-64968544 10:63208784-63208784 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2347A>C (p.Thr783Pro) SNV Uncertain significance 529708 rs776725326 10:64973580-64973580 10:63213820-63213820 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1900C>T (p.His634Tyr) SNV Uncertain significance 529713 rs368298748 10:64974027-64974027 10:63214267-63214267 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.238A>G (p.Thr80Ala) SNV Uncertain significance 529717 rs377459705 10:65140173-65140173 10:63380413-63380413 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3265C>T (p.Pro1089Ser) SNV Uncertain significance 529712 rs200160728 10:64968164-64968164 10:63208404-63208404 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3093T>G (p.Asp1031Glu) SNV Uncertain significance 529702 rs1397945403 10:64968336-64968336 10:63208576-63208576 ERL001 Early Myoclonic Encephalopathy SCN1A NM_001165963.4(SCN1A):c.1889G>C (p.Arg630Pro) SNV Uncertain significance 560660 rs145670933 2:166900333-166900333 2:166043823-166043823 ERL001 Early Myoclonic Encephalopathy KCND2 NC_000007.13:g.(?_119914667)_(119915821_?)dup duplication Uncertain significance 583682 7:119914667-119915821 7:120274613-120275767 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.31T>C (p.Phe11Leu) SNV Uncertain significance 569893 rs142392153 7:119914717-119914717 7:120274663-120274663 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.1628C>T (p.Ala543Val) SNV Uncertain significance 568878 rs1168875214 7:120385994-120385994 7:120745940-120745940 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.1716-7del deletion Uncertain significance 573121 rs1562926880 7:120387728-120387728 7:120747674-120747674 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.6308G>A (p.Arg2103Gln) SNV Uncertain significance 568415 rs927398945 10:64949190-64949190 10:63189430-63189430 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5945C>G (p.Ser1982Cys) SNV Uncertain significance 567767 rs371819371 10:64952829-64952829 10:63193069-63193069 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5533A>C (p.Met1845Leu) SNV Uncertain significance 529698 rs905988373 10:64957282-64957282 10:63197522-63197522 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1611G>A (p.Met537Ile) SNV Uncertain significance 529711 rs897135842 10:64974316-64974316 10:63214556-63214556 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4169C>T (p.Thr1390Met) SNV Uncertain significance 567823 rs747375729 10:64967260-64967260 10:63207500-63207500 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4094A>G (p.His1365Arg) SNV Uncertain significance 573782 rs1564606985 10:64967335-64967335 10:63207575-63207575 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3740C>T (p.Ser1247Leu) SNV Uncertain significance 579950 rs1564608409 10:64967689-64967689 10:63207929-63207929 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3671A>G (p.Tyr1224Cys) SNV Uncertain significance 573234 rs1419282048 10:64967758-64967758 10:63207998-63207998 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3271A>C (p.Ser1091Arg) SNV Uncertain significance 577010 rs1369753710 10:64968158-64968158 10:63208398-63208398 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4201T>C (p.Ser1401Pro) SNV Uncertain significance 574042 rs769777913 10:64967228-64967228 10:63207468-63207468 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3922C>T (p.Arg1308Cys) SNV Uncertain significance 583114 rs766701870 10:64967507-64967507 10:63207747-63207747 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3248C>T (p.Ser1083Leu) SNV Uncertain significance 576244 rs367831647 10:64968181-64968181 10:63208421-63208421 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3215G>A (p.Arg1072His) SNV Uncertain significance 583169 rs371435641 10:64968214-64968214 10:63208454-63208454 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2637_2638delinsGC (p.Ser880Pro) indel Uncertain significance 573145 rs1564618479 10:64973289-64973290 10:63213529-63213530 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2185A>G (p.Ile729Val) SNV Uncertain significance 568225 rs1414572661 10:64973742-64973742 10:63213982-63213982 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1789G>A (p.Val597Ile) SNV Uncertain significance 582448 rs1564621588 10:64974138-64974138 10:63214378-63214378 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.532del (p.Val178fs) deletion Uncertain significance 581156 rs1208957255 10:64979659-64979659 10:63219899-63219899 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.1321G>A (p.Ala441Thr) SNV Uncertain significance 575507 rs1417852990 7:120381630-120381630 7:120741576-120741576 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.1467G>A (p.Thr489=) SNV Uncertain significance 583107 rs762124346 7:120382656-120382656 7:120742602-120742602 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.1534C>T (p.Pro512Ser) SNV Uncertain significance 568350 rs372198586 7:120385900-120385900 7:120745846-120745846 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.1598G>A (p.Arg533Gln) SNV Uncertain significance 574695 rs367713278 7:120385964-120385964 7:120745910-120745910 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.7303C>T (p.Leu2435Phe) SNV Uncertain significance 572334 rs1311184859 10:64936155-64936155 10:63176395-63176395 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3418A>G (p.Ile1140Val) SNV Uncertain significance 577583 rs766621656 10:64968011-64968011 10:63208251-63208251 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2300G>C (p.Gly767Ala) SNV Uncertain significance 583004 rs746786140 10:64973627-64973627 10:63213867-63213867 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1732A>C (p.Ser578Arg) SNV Uncertain significance 570207 rs1564621824 10:64974195-64974195 10:63214435-63214435 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.553G>A (p.Gly185Ser) SNV Uncertain significance 575294 rs761249044 11:792587-792587 11:792587-792587 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.7612G>C (p.Glu2538Gln) SNV Uncertain significance 573448 rs1564539562 10:64927816-64927816 10:63168056-63168056 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5400G>T (p.Glu1800Asp) SNV Uncertain significance 582492 rs754194693 10:64958364-64958364 10:63198604-63198604 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1634A>G (p.Lys545Arg) SNV Uncertain significance 581733 rs777955645 10:64974293-64974293 10:63214533-63214533 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.58G>A (p.Gly20Ser) SNV Uncertain significance 569840 rs766414903 10:65225365-65225365 10:63465605-63465605 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.754C>T (p.Arg252Trp) SNV Uncertain significance 569303 rs1388811021 11:792206-792206 11:792206-792206 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.64G>C (p.Val22Leu) SNV Uncertain significance 648141 7:119914750-119914750 7:120274696-120274696 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.296A>G (p.Tyr99Cys) SNV Uncertain significance 639013 7:119914982-119914982 7:120274928-120274928 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.299G>T (p.Arg100Leu) SNV Uncertain significance 662969 7:119914985-119914985 7:120274931-120274931 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.322C>T (p.Arg108Cys) SNV Uncertain significance 654476 7:119915008-119915008 7:120274954-120274954 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.385A>G (p.Ile129Val) SNV Uncertain significance 645514 7:119915071-119915071 7:120275017-120275017 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.646A>G (p.Ile216Val) SNV Uncertain significance 652645 7:119915332-119915332 7:120275278-120275278 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.652G>C (p.Glu218Gln) SNV Uncertain significance 663034 7:119915338-119915338 7:120275284-120275284 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.989C>T (p.Ser330Leu) SNV Uncertain significance 657270 7:119915675-119915675 7:120275621-120275621 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.1411G>C (p.Gly471Arg) SNV Uncertain significance 640257 7:120382600-120382600 7:120742546-120742546 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.7462G>A (p.Val2488Ile) SNV Uncertain significance 656032 10:64928266-64928266 10:63168506-63168506 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.7433C>T (p.Thr2478Ile) SNV Uncertain significance 664013 10:64928295-64928295 10:63168535-63168535 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.7374T>A (p.Ile2458=) SNV Uncertain significance 640719 10:64936084-64936084 10:63176324-63176324 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.7372A>G (p.Ile2458Val) SNV Uncertain significance 655855 10:64936086-64936086 10:63176326-63176326 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.7273C>G (p.Arg2425Gly) SNV Uncertain significance 662693 10:64936185-64936185 10:63176425-63176425 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.7195G>A (p.Val2399Ile) SNV Uncertain significance 657114 10:64937506-64937506 10:63177746-63177746 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.6891C>G (p.Phe2297Leu) SNV Uncertain significance 653270 10:64944438-64944438 10:63184678-63184678 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.6443A>G (p.Asp2148Gly) SNV Uncertain significance 652732 10:64949055-64949055 10:63189295-63189295 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.6433T>G (p.Ser2145Ala) SNV Uncertain significance 658383 10:64949065-64949065 10:63189305-63189305 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.6327T>A (p.Leu2109=) SNV Uncertain significance 660669 10:64949171-64949171 10:63189411-63189411 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5779T>C (p.Tyr1927His) SNV Uncertain significance 655304 10:64953188-64953188 10:63193428-63193428 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5758A>G (p.Met1920Val) SNV Uncertain significance 654008 10:64953209-64953209 10:63193449-63193449 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5395A>G (p.Ile1799Val) SNV Uncertain significance 664511 10:64958369-64958369 10:63198609-63198609 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5072A>G (p.Asn1691Ser) SNV Uncertain significance 643122 10:64966357-64966357 10:63206597-63206597 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4913C>T (p.Ser1638Leu) SNV Uncertain significance 661359 10:64966516-64966516 10:63206756-63206756 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4793T>C (p.Val1598Ala) SNV Uncertain significance 643917 10:64966636-64966636 10:63206876-63206876 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4734T>G (p.Ile1578Met) SNV Uncertain significance 651138 10:64966695-64966695 10:63206935-63206935 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4613_4623delinsTATGT (p.Ala1538_Thr1541delinsValCys) indel Uncertain significance 641913 10:64966806-64966816 10:63207046-63207056 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4579A>G (p.Ile1527Val) SNV Uncertain significance 658518 10:64966850-64966850 10:63207090-63207090 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4532C>G (p.Thr1511Arg) SNV Uncertain significance 657787 10:64966897-64966897 10:63207137-63207137 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4483A>G (p.Lys1495Glu) SNV Uncertain significance 650228 10:64966946-64966946 10:63207186-63207186 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4421C>T (p.Ser1474Leu) SNV Uncertain significance 641800 10:64967008-64967008 10:63207248-63207248 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4379_4381GTA[3] (p.Ser1461dup) short repeat Uncertain significance 657194 10:64967044-64967045 10:63207284-63207285 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4378A>G (p.Ser1460Gly) SNV Uncertain significance 656242 10:64967051-64967051 10:63207291-63207291 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4355C>G (p.Thr1452Ser) SNV Uncertain significance 643408 10:64967074-64967074 10:63207314-63207314 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4079A>T (p.Asn1360Ile) SNV Uncertain significance 646992 10:64967350-64967350 10:63207590-63207590 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4069C>T (p.Pro1357Ser) SNV Uncertain significance 647014 10:64967360-64967360 10:63207600-63207600 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4045G>A (p.Gly1349Arg) SNV Uncertain significance 659420 10:64967384-64967384 10:63207624-63207624 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3937A>G (p.Thr1313Ala) SNV Uncertain significance 665096 10:64967492-64967492 10:63207732-63207732 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3595A>C (p.Ser1199Arg) SNV Uncertain significance 639178 10:64967834-64967834 10:63208074-63208074 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3563A>G (p.His1188Arg) SNV Uncertain significance 652923 10:64967866-64967866 10:63208106-63208106 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3530C>T (p.Thr1177Ile) SNV Uncertain significance 640097 10:64967899-64967899 10:63208139-63208139 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3494A>G (p.Glu1165Gly) SNV Uncertain significance 656767 10:64967935-64967935 10:63208175-63208175 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3463G>A (p.Glu1155Lys) SNV Uncertain significance 650012 10:64967966-64967966 10:63208206-63208206 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3383C>T (p.Ala1128Val) SNV Uncertain significance 641021 10:64968046-64968046 10:63208286-63208286 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2849T>C (p.Leu950Ser) SNV Uncertain significance 655309 10:64968841-64968841 10:63209081-63209081 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2845A>G (p.Thr949Ala) SNV Uncertain significance 639129 10:64968845-64968845 10:63209085-63209085 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2555C>T (p.Ala852Val) SNV Uncertain significance 651902 10:64973372-64973372 10:63213612-63213612 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2498A>C (p.Gln833Pro) SNV Uncertain significance 663503 10:64973429-64973429 10:63213669-63213669 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2459C>T (p.Ala820Val) SNV Uncertain significance 657618 10:64973468-64973468 10:63213708-63213708 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2212T>G (p.Phe738Val) SNV Uncertain significance 654916 10:64973715-64973715 10:63213955-63213955 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2068C>T (p.Pro690Ser) SNV Uncertain significance 659730 10:64973859-64973859 10:63214099-63214099 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1840C>T (p.His614Tyr) SNV Uncertain significance 664071 10:64974087-64974087 10:63214327-63214327 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1770_1771delinsAC (p.Asn590_Met591delinsLysLeu) indel Uncertain significance 658054 10:64974156-64974157 10:63214396-63214397 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1534A>G (p.Ile512Val) SNV Uncertain significance 651499 10:64974393-64974393 10:63214633-63214633 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1526T>A (p.Val509Asp) SNV Uncertain significance 656494 10:64974401-64974401 10:63214641-63214641 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1381A>G (p.Ile461Val) SNV Uncertain significance 660022 10:64974546-64974546 10:63214786-63214786 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1319A>T (p.Asp440Val) SNV Uncertain significance 665780 10:64974608-64974608 10:63214848-63214848 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1235_1237AAG[1] (p.Glu413del) short repeat Uncertain significance 661983 10:64974687-64974689 10:63214927-63214929 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1085T>G (p.Leu362Arg) SNV Uncertain significance 659177 10:64974842-64974842 10:63215082-63215082 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1064C>T (p.Pro355Leu) SNV Uncertain significance 659017 10:64974863-64974863 10:63215103-63215103 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.934A>C (p.Asn312His) SNV Uncertain significance 658633 10:64975104-64975104 10:63215344-63215344 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.793C>T (p.Arg265Cys) SNV Uncertain significance 659186 10:64975342-64975342 10:63215582-63215582 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.560A>T (p.Tyr187Phe) SNV Uncertain significance 640690 10:64977085-64977085 10:63217325-63217325 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.478A>G (p.Arg160Gly) SNV Uncertain significance 650888 10:64979713-64979713 10:63219953-63219953 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.457G>A (p.Asp153Asn) SNV Uncertain significance 663889 10:64979734-64979734 10:63219974-63219974 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.71G>T (p.Arg24Leu) SNV Uncertain significance 662424 10:65225352-65225352 10:63465592-63465592 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.1279-2A>G SNV Uncertain significance 656499 7:120381586-120381586 7:120741532-120741532 ERL001 Early Myoclonic Encephalopathy JMJD1C NC_000010.11:g.(?_63380298)_(63380502_?)del deletion Uncertain significance 649053 10:65140058-65140262 10:63380298-63380502 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5863-3T>C SNV Uncertain significance 641465 10:64952914-64952914 10:63193154-63193154 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.412+8C>T SNV Uncertain significance 659883 11:792862-792862 11:792862-792862 ERL001 Early Myoclonic Encephalopathy JMJD1C NC_000010.11:g.(?_63380298)_(63465682_?)del deletion Uncertain significance 833153 10:65140058-65225442 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.1055G>C (p.Ser352Thr) SNV Uncertain significance 859284 7:119915741-119915741 7:120275687-120275687 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.1418G>C (p.Ser473Thr) SNV Uncertain significance 857319 7:120382607-120382607 7:120742553-120742553 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.1510A>G (p.Met504Val) SNV Uncertain significance 836847 7:120385876-120385876 7:120745822-120745822 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.1671C>T (p.Ser557=) SNV Uncertain significance 839555 7:120386037-120386037 7:120745983-120745983 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.7509A>C (p.Glu2503Asp) SNV Uncertain significance 847241 10:64928219-64928219 10:63168459-63168459 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.7501_7503dup (p.Lys2501dup) duplication Uncertain significance 861260 10:64928224-64928225 10:63168464-63168465 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.7018T>G (p.Ser2340Ala) SNV Uncertain significance 837813 10:64943273-64943273 10:63183513-63183513 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.6707A>C (p.Lys2236Thr) SNV Uncertain significance 843868 10:64946007-64946007 10:63186247-63186247 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.6175A>T (p.Asn2059Tyr) SNV Uncertain significance 854422 10:64950770-64950770 10:63191010-63191010 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.6075A>C (p.Lys2025Asn) SNV Uncertain significance 858103 10:64952699-64952699 10:63192939-63192939 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.6049G>C (p.Glu2017Gln) SNV Uncertain significance 854056 10:64952725-64952725 10:63192965-63192965 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.6002C>T (p.Thr2001Ile) SNV Uncertain significance 858199 10:64952772-64952772 10:63193012-63193012 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5930A>G (p.Asn1977Ser) SNV Uncertain significance 840529 10:64952844-64952844 10:63193084-63193084 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5923C>G (p.Gln1975Glu) SNV Uncertain significance 844819 10:64952851-64952851 10:63193091-63193091 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5903T>C (p.Leu1968Pro) SNV Uncertain significance 847837 10:64952871-64952871 10:63193111-63193111 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5869C>G (p.Gln1957Glu) SNV Uncertain significance 849659 10:64952905-64952905 10:63193145-63193145 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5842A>G (p.Thr1948Ala) SNV Uncertain significance 845951 10:64953125-64953125 10:63193365-63193365 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5497A>G (p.Ile1833Val) SNV Uncertain significance 851349 10:64957318-64957318 10:63197558-63197558 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5334A>G (p.Gln1778=) SNV Uncertain significance 837637 10:64958430-64958430 10:63198670-63198670 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5086C>T (p.Arg1696Cys) SNV Uncertain significance 859898 10:64960426-64960426 10:63200666-63200666 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5050C>G (p.Leu1684Val) SNV Uncertain significance 858556 10:64966379-64966379 10:63206619-63206619 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4945A>C (p.Thr1649Pro) SNV Uncertain significance 836628 10:64966484-64966484 10:63206724-63206724 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4903G>A (p.Glu1635Lys) SNV Uncertain significance 835303 10:64966526-64966526 10:63206766-63206766 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4869A>T (p.Glu1623Asp) SNV Uncertain significance 846569 10:64966560-64966560 10:63206800-63206800 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4843A>G (p.Arg1615Gly) SNV Uncertain significance 842914 10:64966586-64966586 10:63206826-63206826 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4704G>A (p.Met1568Ile) SNV Uncertain significance 842540 10:64966725-64966725 10:63206965-63206965 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4616C>G (p.Ser1539Cys) SNV Uncertain significance 834850 10:64966813-64966813 10:63207053-63207053 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4309A>G (p.Ser1437Gly) SNV Uncertain significance 835451 10:64967120-64967120 10:63207360-63207360 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4187C>T (p.Thr1396Met) SNV Uncertain significance 848793 10:64967242-64967242 10:63207482-63207482 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4150G>A (p.Val1384Ile) SNV Uncertain significance 840506 10:64967279-64967279 10:63207519-63207519 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4030A>G (p.Lys1344Glu) SNV Uncertain significance 851911 10:64967399-64967399 10:63207639-63207639 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3869A>G (p.His1290Arg) SNV Uncertain significance 859645 10:64967560-64967560 10:63207800-63207800 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3836A>C (p.Asn1279Thr) SNV Uncertain significance 847263 10:64967593-64967593 10:63207833-63207833 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3729A>T (p.Lys1243Asn) SNV Uncertain significance 851018 10:64967700-64967700 10:63207940-63207940 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3532A>G (p.Thr1178Ala) SNV Uncertain significance 847689 10:64967897-64967897 10:63208137-63208137 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3487A>G (p.Ile1163Val) SNV Uncertain significance 858526 10:64967942-64967942 10:63208182-63208182 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3449T>C (p.Ile1150Thr) SNV Uncertain significance 850410 10:64967980-64967980 10:63208220-63208220 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3380C>G (p.Ala1127Gly) SNV Uncertain significance 858661 10:64968049-64968049 10:63208289-63208289 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3346A>G (p.Asn1116Asp) SNV Uncertain significance 848004 10:64968083-64968083 10:63208323-63208323 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3194A>G (p.Lys1065Arg) SNV Uncertain significance 862418 10:64968235-64968235 10:63208475-63208475 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3143A>G (p.Asn1048Ser) SNV Uncertain significance 842197 10:64968286-64968286 10:63208526-63208526 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3130G>A (p.Gly1044Ser) SNV Uncertain significance 857431 10:64968299-64968299 10:63208539-63208539 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2804C>T (p.Pro935Leu) SNV Uncertain significance 834798 10:64968886-64968886 10:63209126-63209126 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2800C>T (p.Arg934Trp) SNV Uncertain significance 857586 10:64968890-64968890 10:63209130-63209130 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2690G>C (p.Arg897Thr) SNV Uncertain significance 851781 10:64973237-64973237 10:63213477-63213477 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2570T>C (p.Leu857Pro) SNV Uncertain significance 846900 10:64973357-64973357 10:63213597-63213597 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2548C>T (p.Pro850Ser) SNV Uncertain significance 852622 10:64973379-64973379 10:63213619-63213619 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2354G>A (p.Gly785Asp) SNV Uncertain significance 837990 10:64973573-64973573 10:63213813-63213813 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2299G>A (p.Gly767Arg) SNV Uncertain significance 861668 10:64973628-64973628 10:63213868-63213868 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2236A>G (p.Arg746Gly) SNV Uncertain significance 835711 10:64973691-64973691 10:63213931-63213931 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2143A>G (p.Arg715Gly) SNV Uncertain significance 846540 10:64973784-64973784 10:63214024-63214024 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1936A>G (p.Lys646Glu) SNV Uncertain significance 839850 10:64973991-64973991 10:63214231-63214231 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1699A>G (p.Ser567Gly) SNV Uncertain significance 843285 10:64974228-64974228 10:63214468-63214468 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1649A>C (p.Asn550Thr) SNV Uncertain significance 843678 10:64974278-64974278 10:63214518-63214518 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1640C>G (p.Ser547Cys) SNV Uncertain significance 858104 10:64974287-64974287 10:63214527-63214527 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1438C>A (p.Pro480Thr) SNV Uncertain significance 864557 10:64974489-64974489 10:63214729-63214729 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1435C>T (p.Leu479Phe) SNV Uncertain significance 862656 10:64974492-64974492 10:63214732-63214732 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1370A>G (p.Gln457Arg) SNV Uncertain significance 845645 10:64974557-64974557 10:63214797-63214797 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1264G>A (p.Ala422Thr) SNV Uncertain significance 852542 10:64974663-64974663 10:63214903-63214903 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1227A>G (p.Ile409Met) SNV Uncertain significance 848795 10:64974700-64974700 10:63214940-63214940 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1117T>G (p.Ser373Ala) SNV Uncertain significance 859082 10:64974810-64974810 10:63215050-63215050 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.980_982del (p.Met327del) deletion Uncertain significance 836627 10:64975056-64975058 10:63215296-63215298 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.929G>A (p.Arg310His) SNV Uncertain significance 838797 10:64975109-64975109 10:63215349-63215349 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.848A>G (p.Asn283Ser) SNV Uncertain significance 859850 10:64975190-64975190 10:63215430-63215430 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.808G>A (p.Val270Ile) SNV Uncertain significance 855176 10:64975327-64975327 10:63215567-63215567 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.389T>A (p.Phe130Tyr) SNV Uncertain significance 846335 10:65024469-65024469 10:63264709-63264709 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.382G>A (p.Val128Ile) SNV Uncertain significance 859735 10:65024476-65024476 10:63264716-63264716 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.358A>C (p.Asn120His) SNV Uncertain significance 863884 10:65024500-65024500 10:63264740-63264740 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.353A>G (p.Glu118Gly) SNV Uncertain significance 843575 10:65024505-65024505 10:63264745-63264745 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.272A>G (p.Lys91Arg) SNV Uncertain significance 856364 10:65140139-65140139 10:63380379-63380379 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.238A>T (p.Thr80Ser) SNV Uncertain significance 839143 10:65140173-65140173 10:63380413-63380413 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.157C>G (p.Pro53Ala) SNV Uncertain significance 842120 10:65225266-65225266 10:63465506-63465506 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.80_81delinsAT (p.Arg27His) indel Uncertain significance 852901 10:65225342-65225343 10:63465582-63465583 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.43C>G (p.Leu15Val) SNV Uncertain significance 859931 10:65225380-65225380 10:63465620-63465620 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4G>A (p.Ala2Thr) SNV Uncertain significance 851386 10:65225419-65225419 10:63465659-63465659 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.678+5A>G SNV Uncertain significance 857195 10:64976962-64976962 10:63217202-63217202 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.333+6A>T SNV Uncertain significance 835594 10:65140072-65140072 10:63380312-63380312 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.1278+4C>T SNV Uncertain significance 837167 7:120373123-120373123 7:120733069-120733069 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.1374+6A>C SNV Uncertain significance 862415 7:120381689-120381689 7:120741635-120741635 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.678+4A>G SNV Uncertain significance 840358 10:64976963-64976963 10:63217203-63217203 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*1301C>T SNV Uncertain significance 883537 11:790614-790614 11:790614-790614 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*1292T>C SNV Uncertain significance 883538 11:790623-790623 11:790623-790623 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*1000C>T SNV Uncertain significance 881168 11:790915-790915 11:790915-790915 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*937G>A SNV Uncertain significance 881169 11:790978-790978 11:790978-790978 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*778G>A SNV Uncertain significance 881635 11:791137-791137 11:791137-791137 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*746G>C SNV Uncertain significance 881636 11:791169-791169 11:791169-791169 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*221C>G SNV Uncertain significance 882798 11:791694-791694 11:791694-791694 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*171G>A SNV Uncertain significance 882799 11:791744-791744 11:791744-791744 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.959A>G (p.Asp320Gly) SNV Uncertain significance 883583 11:791928-791928 11:791928-791928 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.693C>T (p.Ala231=) SNV Uncertain significance 881218 11:792353-792353 11:792353-792353 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.497C>G (p.Pro166Arg) SNV Uncertain significance 881684 11:792643-792643 11:792643-792643 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.199C>T (p.Arg67Trp) SNV Uncertain significance 883624 11:794461-794461 11:794461-794461 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.116A>G (p.Gln39Arg) SNV Uncertain significance 883625 11:794806-794806 11:794806-794806 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.-94C>G SNV Uncertain significance 881263 11:795100-795100 11:795100-795100 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.-115C>T SNV Uncertain significance 881264 11:795121-795121 11:795121-795121 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.-163-874G>A SNV Uncertain significance 881725 11:796043-796043 11:796043-796043 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.-163-901C>T SNV Uncertain significance 881726 11:796070-796070 11:796070-796070 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.-163-945G>C SNV Uncertain significance 881727 11:796114-796114 11:796114-796114 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.-163-1053T>G SNV Uncertain significance 882879 11:796222-796222 11:796222-796222 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.587+14G>A SNV Uncertain significance 881219 11:792539-792539 11:792539-792539 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.327G>C (p.Ala109=) SNV Uncertain significance 306267 rs141975755 11:792955-792955 11:792955-792955 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.-163-934C>T SNV Uncertain significance 306281 rs866357313 11:796103-796103 11:796103-796103 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.-163-1026C>T SNV Uncertain significance 306285 rs868730118 11:796195-796195 11:796195-796195 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*760G>A SNV Uncertain significance 306244 rs139397585 11:791155-791155 11:791155-791155 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*711G>A SNV Uncertain significance 306247 rs111723529 11:791204-791204 11:791204-791204 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.-72T>A SNV Uncertain significance 306271 rs533586625 11:795078-795078 11:795078-795078 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.-163-15C>T SNV Uncertain significance 306277 rs886048703 11:795184-795184 11:795184-795184 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.-163-898G>A SNV Uncertain significance 306279 rs886048704 11:796067-796067 11:796067-796067 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*1277C>T SNV Uncertain significance 306232 rs191455128 11:790638-790638 11:790638-790638 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*693G>C SNV Uncertain significance 306249 rs375467519 11:791222-791222 11:791222-791222 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*39C>T SNV Uncertain significance 306257 rs752899555 11:791876-791876 11:791876-791876 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.819-3C>T SNV Uncertain significance 306259 rs141931491 11:792071-792071 11:792071-792071 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.666G>A (p.Lys222=) SNV Uncertain significance 306263 rs886048695 11:792380-792380 11:792380-792380 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.401C>T (p.Ala134Val) SNV Uncertain significance 306266 rs886048697 11:792881-792881 11:792881-792881 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.53C>T (p.Ala18Val) SNV Uncertain significance 306269 rs886048698 11:794869-794869 11:794869-794869 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.-163-917G>C SNV Uncertain significance 306280 rs868674335 11:796086-796086 11:796086-796086 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.-163-947G>A SNV Uncertain significance 306282 rs374678084 11:796116-796116 11:796116-796116 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.-163-1027C>G SNV Uncertain significance 306286 rs886048705 11:796196-796196 11:796196-796196 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*1041C>T SNV Uncertain significance 306236 rs886048690 11:790874-790874 11:790874-790874 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*753G>A SNV Uncertain significance 306245 rs544567754 11:791162-791162 11:791162-791162 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*510A>G SNV Uncertain significance 306251 rs886048694 11:791405-791405 11:791405-791405 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*328C>T SNV Uncertain significance 306254 rs187161044 11:791587-791587 11:791587-791587 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*107G>A SNV Uncertain significance 306256 rs4963152 11:791808-791808 11:791808-791808 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.717C>T (p.Ala239=) SNV Uncertain significance 306261 rs545592967 11:792329-792329 11:792329-792329 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.463G>T (p.Gly155Cys) SNV Uncertain significance 306265 rs886048696 11:792677-792677 11:792677-792677 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.-93C>G SNV Uncertain significance 306272 rs886048699 11:795099-795099 11:795099-795099 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.-130C>G SNV Uncertain significance 306273 rs886048700 11:795136-795136 11:795136-795136 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.-155T>C SNV Uncertain significance 306276 rs886048702 11:795161-795161 11:795161-795161 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.-163-948C>T SNV Uncertain significance 306283 rs565178069 11:796117-796117 11:796117-796117 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.-163-989C>T SNV Uncertain significance 306284 rs753425944 11:796158-796158 11:796158-796158 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*1431T>A SNV Uncertain significance 306230 rs529018067 11:790484-790484 11:790484-790484 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*1084C>G SNV Uncertain significance 306234 rs768779780 11:790831-790831 11:790831-790831 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*1057C>A SNV Uncertain significance 306235 rs375049082 11:790858-790858 11:790858-790858 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*1013C>A SNV Uncertain significance 306237 rs542204237 11:790902-790902 11:790902-790902 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*940T>C SNV Uncertain significance 306238 rs543726213 11:790975-790975 11:790975-790975 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*845T>A SNV Uncertain significance 306240 rs886048691 11:791070-791070 11:791070-791070 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*810C>T SNV Uncertain significance 306242 rs886048692 11:791105-791105 11:791105-791105 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.267C>G (p.Phe89Leu) SNV Uncertain significance 207157 rs143064022 11:793555-793555 11:793555-793555 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.124G>A (p.Gly42Ser) SNV Uncertain significance 207159 rs535927522 11:794798-794798 11:794798-794798 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.488C>T (p.Pro163Leu) SNV Uncertain significance 267299 rs766449028 10:64979703-64979703 10:63219943-63219943 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*34A>G SNV Uncertain significance 159910 rs74994790 11:791881-791881 11:791881-791881 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.179A>G (p.Glu60Gly) SNV Uncertain significance 159912 rs587784387 11:794481-794481 11:794481-794481 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1399C>G (p.Gln467Glu) SNV Uncertain significance 566313 rs763576839 10:64974528-64974528 10:63214768-63214768 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.1686A>C (p.Arg562Ser) SNV Uncertain significance 569193 rs1562926544 7:120386052-120386052 7:120745998-120745998 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.474C>T (p.Pro158=) SNV Uncertain significance 159916 rs556959164 11:792666-792666 11:792666-792666 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5074+8dup duplication Likely benign 771590 10:64966346-64966347 10:63206586-63206587 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4194A>G (p.Val1398=) SNV Likely benign 792815 10:64967235-64967235 10:63207475-63207475 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4044C>T (p.Ala1348=) SNV Likely benign 794475 10:64967385-64967385 10:63207625-63207625 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4724T>C (p.Val1575Ala) SNV Likely benign 713244 10:64966705-64966705 10:63206945-63206945 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3765C>T (p.Pro1255=) SNV Likely benign 708674 10:64967664-64967664 10:63207904-63207904 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3621A>G (p.Pro1207=) SNV Likely benign 711646 10:64967808-64967808 10:63208048-63208048 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3068G>A (p.Arg1023His) SNV Likely benign 711231 10:64968361-64968361 10:63208601-63208601 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2982G>A (p.Arg994=) SNV Likely benign 716727 10:64968447-64968447 10:63208687-63208687 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1698C>T (p.Val566=) SNV Likely benign 717154 10:64974229-64974229 10:63214469-63214469 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3528A>G (p.Val1176=) SNV Likely benign 751736 10:64967901-64967901 10:63208141-63208141 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3345A>C (p.Ser1115=) SNV Likely benign 762718 10:64968084-64968084 10:63208324-63208324 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2775C>T (p.Val925=) SNV Likely benign 759848 10:64968915-64968915 10:63209155-63209155 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1968A>G (p.Val656=) SNV Likely benign 759841 10:64973959-64973959 10:63214199-63214199 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1197T>C (p.Asn399=) SNV Likely benign 758028 10:64974730-64974730 10:63214970-63214970 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1143A>G (p.Ser381=) SNV Likely benign 759731 10:64974784-64974784 10:63215024-63215024 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5492-7A>G SNV Likely benign 765251 10:64957330-64957330 10:63197570-63197570 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.6395A>T (p.Lys2132Ile) SNV Likely benign 571988 rs200769337 10:64949103-64949103 10:63189343-63189343 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1544A>G (p.Asp515Gly) SNV Likely benign 460219 rs61758117 10:64974383-64974383 10:63214623-63214623 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.1200A>G (p.Leu400=) SNV Likely benign 766913 7:120373041-120373041 7:120732987-120732987 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.1415C>T (p.Ser472Phe) SNV Likely benign 767427 7:120382604-120382604 7:120742550-120742550 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.1662A>G (p.Gln554=) SNV Likely benign 772995 7:120386028-120386028 7:120745974-120745974 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.6104A>C (p.Gln2035Pro) SNV Likely benign 774112 10:64950841-64950841 10:63191081-63191081 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5445A>G (p.Gln1815=) SNV Likely benign 777647 10:64958319-64958319 10:63198559-63198559 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5409A>G (p.Lys1803=) SNV Likely benign 772458 10:64958355-64958355 10:63198595-63198595 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5250A>G (p.Val1750=) SNV Likely benign 770054 10:64960262-64960262 10:63200502-63200502 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5103T>C (p.Asp1701=) SNV Likely benign 770103 10:64960409-64960409 10:63200649-63200649 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4797T>C (p.Asp1599=) SNV Likely benign 772957 10:64966632-64966632 10:63206872-63206872 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4209C>T (p.Ala1403=) SNV Likely benign 774013 10:64967220-64967220 10:63207460-63207460 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.288C>T (p.Ser96=) SNV Likely benign 771807 10:65140123-65140123 10:63380363-63380363 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4497C>T (p.Ala1499=) SNV Likely benign 791630 10:64966932-64966932 10:63207172-63207172 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.468C>G (p.Asn156Lys) SNV Likely benign 788210 10:64979723-64979723 10:63219963-63219963 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.372A>T (p.Ser124=) SNV Likely benign 784789 10:65024486-65024486 10:63264726-63264726 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3237A>G (p.Lys1079=) SNV Likely benign 734661 10:64968192-64968192 10:63208432-63208432 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3214C>T (p.Arg1072Cys) SNV Likely benign 724452 10:64968215-64968215 10:63208455-63208455 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.168+9_168+11delinsACG indel Likely benign 725210 10:65225244-65225246 10:63465484-63465486 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.765C>T (p.Tyr255=) SNV Likely benign 750220 7:119915451-119915451 7:120275397-120275397 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.1095C>T (p.Ile365=) SNV Likely benign 740907 7:119915781-119915781 7:120275727-120275727 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.1758A>G (p.Leu586=) SNV Likely benign 745014 7:120387777-120387777 7:120747723-120747723 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.6888A>G (p.Lys2296=) SNV Likely benign 736989 10:64944441-64944441 10:63184681-63184681 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5460A>G (p.Glu1820=) SNV Likely benign 744670 10:64958304-64958304 10:63198544-63198544 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3486G>A (p.Lys1162=) SNV Likely benign 745191 10:64967943-64967943 10:63208183-63208183 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2481G>A (p.Ala827=) SNV Likely benign 744443 10:64973446-64973446 10:63213686-63213686 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1575C>T (p.Asn525=) SNV Likely benign 747776 10:64974352-64974352 10:63214592-63214592 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.331T>C (p.Leu111=) SNV Likely benign 741285 10:65140080-65140080 10:63380320-63380320 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.168+9G>A SNV Likely benign 747234 10:65225246-65225246 10:63465486-63465486 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.1314C>T (p.Ser438=) SNV Likely benign 758958 7:120381623-120381623 7:120741569-120741569 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5835T>C (p.Asn1945=) SNV Likely benign 756949 10:64953132-64953132 10:63193372-63193372 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4863T>G (p.Thr1621=) SNV Likely benign 758019 10:64966566-64966566 10:63206806-63206806 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4062C>T (p.Ile1354=) SNV Likely benign 761359 10:64967367-64967367 10:63207607-63207607 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3384G>A (p.Ala1128=) SNV Likely benign 707709 10:64968045-64968045 10:63208285-63208285 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2862T>C (p.His954=) SNV Likely benign 707124 10:64968828-64968828 10:63209068-63209068 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2838G>A (p.Leu946=) SNV Likely benign 706993 10:64968852-64968852 10:63209092-63209092 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.894G>A (p.Gln298=) SNV Likely benign 707220 10:64975144-64975144 10:63215384-63215384 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.45G>C (p.Leu15=) SNV Likely benign 707342 10:65225378-65225378 10:63465618-63465618 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.468C>G (p.Thr156=) SNV Likely benign 771817 7:119915154-119915154 7:120275100-120275100 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1166T>C (p.Ile389Thr) SNV Likely benign 577996 rs201371848 10:64974761-64974761 10:63215001-63215001 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.6427A>G (p.Ile2143Val) SNV Likely benign 578592 rs200368807 10:64949071-64949071 10:63189311-63189311 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2895A>T (p.Glu965Asp) SNV Likely benign 569335 rs189118006 10:64968534-64968534 10:63208774-63208774 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.159G>A (p.Pro53=) SNV Likely benign 529730 rs758488215 10:65225264-65225264 10:63465504-63465504 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.72T>C (p.Arg24=) SNV Likely benign 529725 rs182663630 10:65225351-65225351 10:63465591-63465591 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4808T>C (p.Ile1603Thr) SNV Likely benign 580833 rs200242659 10:64966621-64966621 10:63206861-63206861 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4567A>T (p.Ile1523Phe) SNV Likely benign 580324 rs183013953 10:64966862-64966862 10:63207102-63207102 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2538A>G (p.Gly846=) SNV Likely benign 529727 rs200418707 10:64973389-64973389 10:63213629-63213629 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1868T>C (p.Ile623Thr) SNV Likely benign 529726 rs183692723 10:64974059-64974059 10:63214299-63214299 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.6858A>C (p.Pro2286=) SNV Likely benign 529733 rs760036423 10:64944471-64944471 10:63184711-63184711 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.6246A>G (p.Thr2082=) SNV Likely benign 529728 rs1007600942 10:64950699-64950699 10:63190939-63190939 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2037T>C (p.His679=) SNV Likely benign 529722 rs112116567 10:64973890-64973890 10:63214130-63214130 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1608A>G (p.Lys536=) SNV Likely benign 529720 rs199536995 10:64974319-64974319 10:63214559-63214559 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4464A>G (p.Ala1488=) SNV Likely benign 529723 rs377385483 10:64966965-64966965 10:63207205-63207205 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2133T>C (p.Phe711=) SNV Likely benign 529731 rs772812493 10:64973794-64973794 10:63214034-63214034 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3823A>T (p.Met1275Leu) SNV Likely benign 529705 rs540558753 10:64967606-64967606 10:63207846-63207846 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.6093C>T (p.Thr2031=) SNV Likely benign 529724 rs775487533 10:64950852-64950852 10:63191092-63191092 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.1441C>T (p.Leu481=) SNV Likely benign 529729 rs370190131 7:120382630-120382630 7:120742576-120742576 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1391C>T (p.Ser464Leu) SNV Likely benign 460216 rs201514908 10:64974536-64974536 10:63214776-63214776 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1103G>A (p.Arg368Gln) SNV Likely benign 460210 rs200644675 10:64974824-64974824 10:63215064-63215064 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.6702T>C (p.Asn2234=) SNV Likely benign 460271 rs201800652 10:64946012-64946012 10:63186252-63186252 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.6522G>A (p.Lys2174=) SNV Likely benign 460267 rs771233853 10:64948976-64948976 10:63189216-63189216 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5993A>C (p.Asn1998Thr) SNV Likely benign 460264 rs550649881 10:64952781-64952781 10:63193021-63193021 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4866T>C (p.Tyr1622=) SNV Likely benign 460255 rs373686710 10:64966563-64966563 10:63206803-63206803 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4611A>G (p.Gln1537=) SNV Likely benign 460252 rs368296796 10:64966818-64966818 10:63207058-63207058 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.679-5A>T SNV Likely benign 460272 rs1237244107 10:64975461-64975461 10:63215701-63215701 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1112A>G (p.Asn371Ser) SNV Likely benign 460211 rs528244230 10:64974815-64974815 10:63215055-63215055 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4286C>T (p.Ser1429Leu) SNV Likely benign 460245 rs201627592 10:64967143-64967143 10:63207383-63207383 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3741A>T (p.Ser1247=) SNV Likely benign 460241 rs150646202 10:64967688-64967688 10:63207928-63207928 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2313A>G (p.Gln771=) SNV Likely benign 460228 rs200925734 10:64973614-64973614 10:63213854-63213854 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1703A>T (p.Asp568Val) SNV Likely benign 460224 rs201464655 10:64974224-64974224 10:63214464-63214464 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4386G>C (p.Lys1462Asn) SNV Likely benign 460248 rs188520171 10:64967043-64967043 10:63207283-63207283 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5589T>C (p.Cys1863=) SNV Likely benign 460260 rs1554833174 10:64957226-64957226 10:63197466-63197466 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3720T>A (p.Ala1240=) SNV Likely benign 460240 rs374157558 10:64967709-64967709 10:63207949-63207949 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.56T>A (p.Val19Asp) SNV Likely benign 460261 rs201112543 10:65225367-65225367 10:63465607-63465607 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.45G>A (p.Leu15=) SNV Likely benign 460251 rs756992665 10:65225378-65225378 10:63465618-63465618 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3157G>C (p.Ala1053Pro) SNV Likely benign 460235 rs144839482 10:64968272-64968272 10:63208512-63208512 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2832A>G (p.Pro944=) SNV Likely benign 460234 rs61758114 10:64968858-64968858 10:63209098-63209098 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4180A>T (p.Thr1394Ser) SNV Likely benign 460244 rs139881253 10:64967249-64967249 10:63207489-63207489 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3565T>C (p.Leu1189=) SNV Likely benign 460239 rs372806250 10:64967864-64967864 10:63208104-63208104 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.1375-8G>T SNV Likely benign 460198 rs201244697 7:120382556-120382556 7:120742502-120742502 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.1485C>T (p.Asp495=) SNV Likely benign 460200 rs772458094 7:120385851-120385851 7:120745797-120745797 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.1338G>A (p.Gln446=) SNV Likely benign 460197 rs144966242 7:120381647-120381647 7:120741593-120741593 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.216G>A (p.Arg72=) SNV Likely benign 460201 rs140949631 7:119914902-119914902 7:120274848-120274848 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.432C>T (p.Asn144=) SNV Likely benign 460203 rs150367628 7:119915118-119915118 7:120275064-120275064 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.746C>T (p.Ala249Val) SNV Likely benign 460205 rs146220085 7:119915432-119915432 7:120275378-120275378 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.949C>T (p.Leu317=) SNV Likely benign 460207 rs3814462 7:119915635-119915635 7:120275581-120275581 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.978C>T (p.Phe326=) SNV Likely benign 460208 rs1554421107 7:119915664-119915664 7:120275610-120275610 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4380T>C (p.Ser1460=) SNV Likely benign 460247 rs142996119 10:64967049-64967049 10:63207289-63207289 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.7591G>A (p.Glu2531Lys) SNV Likely benign 460278 rs71508957 10:64927837-64927837 10:63168077-63168077 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.6112G>C (p.Glu2038Gln) SNV Likely benign 460265 rs201787760 10:64950833-64950833 10:63191073-63191073 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1120G>C (p.Asp374His) SNV Likely benign 460212 rs200016210 10:64974807-64974807 10:63215047-63215047 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.966A>G (p.Pro322=) SNV Likely benign 460284 rs200728992 10:64975072-64975072 10:63215312-63215312 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.959G>A (p.Ser320Asn) SNV Likely benign 460283 rs201497554 10:64975079-64975079 10:63215319-63215319 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.705T>C (p.Ala235=) SNV Benign/Likely benign 139142 rs142861804 11:792341-792341 11:792341-792341 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*17A>C SNV Benign 139147 rs554507285 11:791898-791898 11:791898-791898 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.412+10G>T SNV Benign 159915 rs113091974 11:792860-792860 11:792860-792860 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.234C>T (p.Pro78=) SNV Benign 159913 rs80335370 11:793588-793588 11:793588-793588 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.561C>T (p.Tyr187=) SNV Benign 159917 rs77117049 11:792579-792579 11:792579-792579 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.618G>A (p.Pro206=) SNV Benign 139141 rs150544061 11:792428-792428 11:792428-792428 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.448C>G (p.Leu150Val) SNV Benign 139137 rs111277421 11:792692-792692 11:792692-792692 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.6292-3T>C SNV Benign 771275 10:64949209-64949209 10:63189449-63189449 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4137T>C (p.Ser1379=) SNV Benign 729905 10:64967292-64967292 10:63207532-63207532 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.-163-881C>T SNV Benign 139128 rs115490180 11:796050-796050 11:796050-796050 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3807A>G (p.Glu1269=) SNV Benign 756622 10:64967622-64967622 10:63207862-63207862 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.18G>A (p.Arg6=) SNV Benign 783186 10:65225405-65225405 10:63465645-63465645 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.6834C>T (p.Tyr2278=) SNV Benign 767283 10:64944495-64944495 10:63184735-63184735 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*1153C>T SNV Benign 306233 rs17156064 11:790762-790762 11:790762-790762 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*906G>A SNV Benign 306239 rs118051043 11:791009-791009 11:791009-791009 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*712T>C SNV Benign 306246 rs114476401 11:791203-791203 11:791203-791203 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*453C>T SNV Benign 306252 rs4963153 11:791462-791462 11:791462-791462 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*841A>T SNV Benign 306241 rs116673603 11:791074-791074 11:791074-791074 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.*436C>T SNV Benign 306253 rs112476979 11:791479-791479 11:791479-791479 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.-141G>A SNV Benign 306275 rs79919483 11:795147-795147 11:795147-795147 ERL001 Early Myoclonic Encephalopathy SLC25A22 NM_001191061.2(SLC25A22):c.-163-868T>C SNV Benign 306278 rs111520133 11:796037-796037 11:796037-796037 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.814G>A (p.Ala272Thr) SNV Benign 460281 rs34798625 10:64975321-64975321 10:63215561-63215561 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.168+10_168+11delinsCG indel Benign 460222 rs34353506 10:65225244-65225245 10:63465484-63465485 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.447+7A>C SNV Benign 460250 rs73290502 10:65024404-65024404 10:63264644-63264644 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3951T>C (p.Ser1317=) SNV Benign 460242 rs143894691 10:64967478-64967478 10:63207718-63207718 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.4410T>C (p.Ser1470=) SNV Benign 460249 rs118024996 10:64967019-64967019 10:63207259-63207259 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.1473C>T (p.His491=) SNV Benign 460199 rs145422660 7:120385839-120385839 7:120745785-120745785 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.801G>A (p.Val267=) SNV Benign 460206 rs375854186 7:119915487-119915487 7:120275433-120275433 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.456G>A (p.Ala152=) SNV Benign 460204 rs116322872 7:119915142-119915142 7:120275088-120275088 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1949C>T (p.Thr650Ile) SNV Benign 460226 rs41274068 10:64973978-64973978 10:63214218-63214218 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1771A>G (p.Met591Val) SNV Benign 460225 rs41274072 10:64974156-64974156 10:63214396-63214396 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.759T>C (p.Gly253=) SNV Benign 460280 rs34037273 10:64975376-64975376 10:63215616-63215616 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.7593G>A (p.Glu2531=) SNV Benign 460279 rs186321056 10:64927835-64927835 10:63168075-63168075 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.6948G>A (p.Leu2316=) SNV Benign 460274 rs79059103 10:64944381-64944381 10:63184621-63184621 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.6570+3G>A SNV Benign 460269 rs76935733 10:64948925-64948925 10:63189165-63189165 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1329_1331del (p.His443_Glu444delinsGln) deletion Benign 460213 rs141981100 10:64974596-64974598 10:63214836-63214838 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3984= (p.Arg1328=) SNV Benign 460243 rs1904294 10:64967445-64967445 10:63207685-63207685 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3178A>G (p.Lys1060Glu) SNV Benign 460236 rs149833441 10:64968251-64968251 10:63208491-63208491 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2695-20TTGTT[4] short repeat Benign 460233 rs60227922 10:64969000-64969001 10:63209240-63209241 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.2628T>C (p.Leu876=) SNV Benign 460232 rs139078977 10:64973299-64973299 10:63213539-63213539 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1682C>G (p.Ser561Cys) SNV Benign 460223 rs149889210 10:64974245-64974245 10:63214485-63214485 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5940G>A (p.Pro1980=) SNV Benign 460263 rs34825545 10:64952834-64952834 10:63193074-63193074 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.5939C>T (p.Pro1980Leu) SNV Benign 460262 rs41274064 10:64952835-64952835 10:63193075-63193075 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1547C>G (p.Thr516Ser) SNV Benign 460220 rs41274074 10:64974380-64974380 10:63214620-63214620 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.7200C>G (p.Asp2400Glu) SNV Benign 460277 rs34491125 10:64937501-64937501 10:63177741-63177741 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1392G>A (p.Ser464=) SNV Benign 460217 rs142118527 10:64974535-64974535 10:63214775-63214775 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.699C>T (p.Val233=) SNV Benign 460276 rs74138760 10:64975436-64975436 10:63215676-63215676 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.670C>A (p.Arg224=) SNV Benign 529732 rs201072665 7:119915356-119915356 7:120275302-120275302 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.1910A>G (p.Lys637Arg) SNV Benign 529721 rs117647164 10:64974017-64974017 10:63214257-63214257 ERL001 Early Myoclonic Encephalopathy JMJD1C NM_032776.3(JMJD1C):c.3473_3478del (p.Gly1158_Leu1159del) deletion Benign 529718 rs139722368 10:64967951-64967956 10:63208191-63208196 ERL001 Early Myoclonic Encephalopathy KCND2 NM_012281.3(KCND2):c.708C>T (p.Cys236=) SNV Benign 771250 7:119915394-119915394 7:120275340-120275340 ERL001 Early Myoclonic Encephalopathy DNM1L NM_012062.5(DNM1L):c.763_764dup (p.Lys256fs) duplication Pathogenic 689730 12:32873619-32873620 12:32720685-32720686 ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 DNM1L NM_012062.5(DNM1L):c.1184C>A (p.Ala395Asp) SNV Pathogenic 6015 rs121908531 12:32884052-32884052 12:32731118-32731118 ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 DNM1L NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys) SNV Pathogenic 214313 rs863223953 12:32884296-32884296 12:32731362-32731362 ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 DNM1L NM_012062.5(DNM1L):c.1084G>A (p.Gly362Ser) SNV Pathogenic 253262 rs886037861 12:32883952-32883952 12:32731018-32731018 ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 DNM1L NM_012062.5(DNM1L):c.251-1532dup duplication Pathogenic 253263 rs879255686 12:32858768-32858769 12:32705834-32705835 ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 DNM1L NM_012062.5(DNM1L):c.346_347del (p.Glu116fs) deletion Pathogenic 253264 rs879255687 12:32861134-32861135 12:32708200-32708201 ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 DNM1L NM_012062.5(DNM1L):c.106A>G (p.Ser36Gly) SNV Pathogenic 253266 rs879255688 12:32854352-32854352 12:32701418-32701418 ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 DNM1L NM_012062.5(DNM1L):c.2072A>G (p.Tyr691Cys) SNV Pathogenic/Likely pathogenic 619028 rs1565548029 12:32895600-32895600 12:32742666-32742666 ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 DNM1L NM_012062.5(DNM1L):c.1108T>C (p.Phe370Leu) SNV Likely pathogenic 802833 12:32883976-32883976 12:32731042-32731042 ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 DNM1L NM_012062.5(DNM1L):c.1337G>T (p.Cys446Phe) SNV Likely pathogenic 243096 rs879253874 12:32884426-32884426 12:32731492-32731492 ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 DNM1L NM_012062.5(DNM1L):c.1085G>A (p.Gly362Asp) SNV Likely pathogenic 253261 rs879255685 12:32883953-32883953 12:32731019-32731019 ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 DNM1L NM_012062.5(DNM1L):c.1915C>T (p.Arg639Trp) SNV Likely pathogenic 802836 12:32893373-32893373 12:32740439-32740439 ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 DNM1L NM_012062.5(DNM1L):c.1135G>A (p.Glu379Lys) SNV Likely pathogenic 374321 rs1057518694 12:32884003-32884003 12:32731069-32731069 ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 DNM1L NM_012062.5(DNM1L):c.1048G>A (p.Gly350Arg) SNV Uncertain significance 253267 rs879255689 12:32875536-32875536 12:32722602-32722602 ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 CEP55 NM_018131.5(CEP55):c.910A>T (p.Ile304Leu) SNV Uncertain significance 599328 rs765188763 10:95276922-95276922 10:93517165-93517165 ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 OSBPL7 NM_145798.3(OSBPL7):c.1078G>A (p.Asp360Asn) SNV Uncertain significance 599329 rs1016471339 17:45893514-45893514 17:47816148-47816148 ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 DNM1L NM_012062.5(DNM1L):c.1822A>C (p.Lys608Gln) SNV Uncertain significance 802835 12:32893112-32893112 12:32740178-32740178 ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 DNM1L NM_012062.5(DNM1L):c.305C>T (p.Thr102Met) SNV Uncertain significance 214308 rs201929226 12:32861094-32861094 12:32708160-32708160 ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 DNM1L NM_012062.5(DNM1L):c.1571T>C (p.Leu524Ser) SNV Likely benign 802834 12:32890070-32890070 12:32737136-32737136 ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 DNM1L NM_012062.5(DNM1L):c.1834A>T (p.Ile612Phe) SNV Likely benign 214305 rs138133550 12:32893124-32893124 12:32740190-32740190 ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 MFF NM_001277062.2(MFF):c.284del (p.Thr95fs) deletion Pathogenic 545568 rs1285225437 2:228197237-228197237 2:227332521-227332521 ENC049 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 MFF NM_001277062.2(MFF):c.106dup (p.Leu36fs) duplication Pathogenic 253268 rs886037862 2:228195485-228195486 2:227330769-227330770 ENC049 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 MFF NM_001277062.2(MFF):c.739C>T (p.Arg247Ter) SNV Pathogenic 253269 rs753829320 2:228220472-228220472 2:227355756-227355756 ENC049 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 MFF NM_001277062.2(MFF):c.375_376del (p.Glu127fs) deletion Pathogenic 253270 rs879255690 2:228205028-228205029 2:227340312-227340313 ENC049 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 MFF NM_001277062.2(MFF):c.112C>T (p.Gln38Ter) SNV Pathogenic/Likely pathogenic 39831 rs397514615 2:228195493-228195493 2:227330777-227330777 ENC049 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 MFF NM_001277062.2(MFF):c.337C>A (p.Pro113Thr) SNV Uncertain significance 634511 rs1414317381 2:228197290-228197290 2:227332574-227332574 ENC049 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 SCN3A deletion Pathogenic 635920 2:166050817-166679227 EPL164 Epilepsy CSRNP3 deletion Pathogenic 635920 2:166050817-166679227 EPL164 Epilepsy GALNT3 deletion Pathogenic 635920 2:166050817-166679227 EPL164 Epilepsy SCN2A deletion Pathogenic 635920 2:166050817-166679227 EPL164 Epilepsy TTC21B NC_000002.11:g.166679228_166818452inv inversion Pathogenic 635921 2:166679228-166818452 EPL164 Epilepsy SCN1A deletion Pathogenic 635922 2:166818453-166939516 EPL164 Epilepsy DEPDC5 NM_001242896.3(DEPDC5):c.4066del (p.Leu1356fs) deletion Pathogenic 834049 22:32289598-32289598 22:31893612-31893612 EPL164 Epilepsy TSHR NM_000369.2(TSHR):c.122G>C (p.Cys41Ser) SNV Pathogenic 6442 rs121908869 14:81422146-81422146 14:80955802-80955802 EPL164 Epilepsy ATP1A3 NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) SNV Pathogenic 37110 rs398122887 19:42471896-42471896 19:41967744-41967744 EPL164 Epilepsy SLC2A1 NM_006516.3(SLC2A1):c.988C>T (p.Arg330Ter) SNV Pathogenic 207196 rs80359826 1:43394689-43394689 1:42929018-42929018 EPL164 Epilepsy RABL2B deletion Pathogenic 223117 22:51027581-51234443 EPL164 Epilepsy SHANK3 deletion Pathogenic 223117 22:51027581-51234443 EPL164 Epilepsy ACR deletion Pathogenic 223117 22:51027581-51234443 EPL164 Epilepsy ARSA deletion Pathogenic 223117 22:51027581-51234443 EPL164 Epilepsy MAPK8IP2 deletion Pathogenic 223117 22:51027581-51234443 EPL164 Epilepsy OTUD6B NM_016023.5(OTUD6B):c.343C>T (p.Arg115Ter) SNV Pathogenic 375701 rs368313959 8:92090611-92090611 8:91078383-91078383 EPL164 Epilepsy OTUD6B NM_016023.5(OTUD6B):c.379_383del (p.Leu127fs) deletion Pathogenic 375702 rs759317757 8:92090644-92090648 8:91078416-91078420 EPL164 Epilepsy OTUD6B NM_016023.5(OTUD6B):c.83-2A>G SNV Pathogenic 375703 rs1064797102 8:92083364-92083364 8:91071136-91071136 EPL164 Epilepsy SCN8A NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) SNV Pathogenic/Likely pathogenic 207119 rs796053216 12:52184185-52184185 12:51790401-51790401 EPL164 Epilepsy MIR211 deletion Likely pathogenic 223109 15:30941572-32509926 EPL164 Epilepsy MTMR10 deletion Likely pathogenic 223109 15:30941572-32509926 EPL164 Epilepsy OTUD7A deletion Likely pathogenic 223109 15:30941572-32509926 EPL164 Epilepsy TRPM1 deletion Likely pathogenic 223109 15:30941572-32509926 EPL164 Epilepsy CHRNA7 deletion Likely pathogenic 223109 15:30941572-32509926 EPL164 Epilepsy FAN1 deletion Likely pathogenic 223109 15:30941572-32509926 EPL164 Epilepsy KLF13 deletion Likely pathogenic 223109 15:30941572-32509926 EPL164 Epilepsy WDR37 NM_014023.4(WDR37):c.356C>T (p.Ser119Phe) SNV Likely pathogenic 633617 10:1126376-1126376 10:1080436-1080436 EPL164 Epilepsy WDR37 NM_014023.4(WDR37):c.386C>G (p.Ser129Cys) SNV Likely pathogenic 633616 10:1126406-1126406 10:1080466-1080466 EPL164 Epilepsy WDR37 NM_014023.4(WDR37):c.389C>T (p.Thr130Ile) SNV Likely pathogenic 633618 10:1126409-1126409 10:1080469-1080469 EPL164 Epilepsy OTUD6B NM_016023.5(OTUD6B):c.557A>G (p.Tyr186Cys) SNV Likely pathogenic 375704 rs1064797103 8:92090825-92090825 8:91078597-91078597 EPL164 Epilepsy GRIN2B NM_000834.4(GRIN2B):c.2116A>G (p.Met706Val) SNV Likely pathogenic 374226 rs1057518988 12:13724793-13724793 12:13571859-13571859 EPL164 Epilepsy COX3 NC_012920.1:m.9237G>A SNV Likely pathogenic 370052 rs1057516064 MT:9237-9237 MT:9237-9237 EPL164 Epilepsy NR4A2 NM_006186.4(NR4A2):c.327dup (p.Ser110fs) duplication Likely pathogenic 545565 rs1553456695 2:157186371-157186372 2:156329859-156329860 EPL164 Epilepsy ATP1A2 NM_000702.4(ATP1A2):c.835del (p.Arg279fs) deletion Likely pathogenic 586989 rs1558005340 1:160097428-160097428 1:160127638-160127638 EPL164 Epilepsy UBE4A NM_001204077.2(UBE4A):c.1185_1186del (p.Lys396fs) deletion Likely pathogenic 617553 rs1565532385 11:118245679-118245680 11:118374964-118374965 EPL164 Epilepsy KMT2E NM_182931.3(KMT2E):c.1776_1780del (p.Lys593fs) deletion Likely pathogenic 617565 rs1562927768 7:104741923-104741927 7:105101476-105101480 EPL164 Epilepsy SETD1B NM_001353345.1(SETD1B):c.1526_1527del (p.Glu509fs) deletion Likely pathogenic 692025 12:122248376-122248377 12:121810470-121810471 EPL164 Epilepsy ATP1A2 NM_000702.4(ATP1A2):c.3027T>A (p.Tyr1009Ter) SNV Likely pathogenic 692197 1:160109767-160109767 1:160139977-160139977 EPL164 Epilepsy WDR37 NM_014023.4(WDR37):c.374C>T (p.Thr125Ile) SNV Likely pathogenic 440948 rs1554823375 10:1126394-1126394 10:1080454-1080454 EPL164 Epilepsy ATP1A2 NM_000702.4(ATP1A2):c.2105_2106del (p.Cys702fs) deletion Likely pathogenic 562228 rs1558008455 1:160105074-160105075 1:160135284-160135285 EPL164 Epilepsy PIGQ NM_004204.5(PIGQ):c.968_969del (p.Leu323fs) deletion Conflicting interpretations of pathogenicity 520669 rs747661902 16:628404-628405 16:578404-578405 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.942+1G>A SNV Conflicting interpretations of pathogenicity 453003 rs200661329 16:626255-626255 16:576255-576255 EPL164 Epilepsy IER3IP1 NM_016097.5(IER3IP1):c.*58T>C SNV Conflicting interpretations of pathogenicity 433137 rs150586939 18:44682490-44682490 18:47156119-47156119 EPL164 Epilepsy CPA6 NM_020361.5(CPA6):c.931C>T (p.Arg311Ter) SNV Conflicting interpretations of pathogenicity 434821 rs139145929 8:68346383-68346383 8:67434148-67434148 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.1000C>G (p.Leu334Val) SNV Conflicting interpretations of pathogenicity 206934 rs201870762 2:166905424-166905424 2:166048914-166048914 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.3012T>C (p.Asp1004=) SNV Conflicting interpretations of pathogenicity 331887 rs748537030 2:166892975-166892975 2:166036465-166036465 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.3573T>C (p.Cys1191=) SNV Conflicting interpretations of pathogenicity 331885 rs750943685 2:166870386-166870386 2:166013876-166013876 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=) SNV Conflicting interpretations of pathogenicity 93655 rs145296488 2:166850777-166850777 2:165994267-165994267 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.333A>G (p.Leu111=) SNV Conflicting interpretations of pathogenicity 138971 rs201592683 2:166915130-166915130 2:166058620-166058620 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) SNV Conflicting interpretations of pathogenicity 68616 rs121918799 2:166872146-166872146 2:166015636-166015636 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=) SNV Conflicting interpretations of pathogenicity 93626 rs114137271 2:166904176-166904176 2:166047666-166047666 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.1410C>T (p.Ser470=) SNV Conflicting interpretations of pathogenicity 212117 rs142571794 2:166901805-166901805 2:166045295-166045295 EPL164 Epilepsy SCN1A NM_006920.6(SCN1A):c.2143+11A>C SNV Conflicting interpretations of pathogenicity 331891 rs201604887 2:166898791-166898791 2:166042281-166042281 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.*1864T>A SNV Conflicting interpretations of pathogenicity 331860 rs150155252 2:166845891-166845891 2:165989381-165989381 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.*1795G>A SNV Conflicting interpretations of pathogenicity 331861 rs189183531 2:166845960-166845960 2:165989450-165989450 EPL164 Epilepsy SCN1A NM_006920.6(SCN1A):c.4548+12C>T SNV Conflicting interpretations of pathogenicity 331882 rs886055042 2:166852511-166852511 2:165996001-165996001 EPL164 Epilepsy SCN1A NM_006920.6(SCN1A):c.3847-10G>C SNV Uncertain significance 331884 rs886055043 2:166866361-166866361 2:166009851-166009851 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.3513T>C (p.Pro1171=) SNV Uncertain significance 331886 rs886055044 2:166872154-166872154 2:166015644-166015644 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.*460A>C SNV Uncertain significance 331876 rs746164130 2:166847295-166847295 2:165990785-165990785 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.*259T>C SNV Uncertain significance 331877 rs886055039 2:166847496-166847496 2:165990986-165990986 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.565C>G (p.Pro189Ala) SNV Uncertain significance 331894 rs886055046 2:166911185-166911185 2:166054675-166054675 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.*1989C>T SNV Uncertain significance 331855 rs371391758 2:166845766-166845766 2:165989256-165989256 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.*912T>A SNV Uncertain significance 331871 rs886055036 2:166846843-166846843 2:165990333-165990333 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.*1950G>A SNV Uncertain significance 331858 rs773354801 2:166845805-166845805 2:165989295-165989295 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.*1482G>A SNV Uncertain significance 331865 rs886055033 2:166846273-166846273 2:165989763-165989763 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.1882T>A (p.Ser628Thr) SNV Uncertain significance 206777 rs752639991 2:166900340-166900340 2:166043830-166043830 EPL164 Epilepsy NIPA2 deletion Uncertain significance 223121 15:22410242-23222284 EPL164 Epilepsy TUBGCP5 deletion Uncertain significance 223121 15:22410242-23222284 EPL164 Epilepsy CYFIP1 deletion Uncertain significance 223121 15:22410242-23222284 EPL164 Epilepsy GOLGA6L1 deletion Uncertain significance 223121 15:22410242-23222284 EPL164 Epilepsy NIPA1 deletion Uncertain significance 223121 15:22410242-23222284 EPL164 Epilepsy LGALS9 NC_000017.11:g.(?_27647231)_(27748498_?)del deletion Uncertain significance 223125 17:25974257-26075524 17:27647231-27748498 EPL164 Epilepsy CHRNA7 duplication Uncertain significance 223110 15:32024192-32509926 EPL164 Epilepsy CHRNA7 duplication Uncertain significance 223111 15:31956036-32511581 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.*1872del deletion Uncertain significance 331859 rs878898132 2:166845883-166845883 2:165989373-165989373 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.*129T>G SNV Uncertain significance 331879 rs886055040 2:166847626-166847626 2:165991116-165991116 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.5992G>C (p.Glu1998Gln) SNV Uncertain significance 331880 rs886055041 2:166847793-166847793 2:165991283-165991283 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.4941A>G (p.Leu1647=) SNV Uncertain significance 331881 rs770111331 2:166848844-166848844 2:165992334-165992334 EPL164 Epilepsy ARHGEF9 NM_001353921.2(ARHGEF9):c.211-5C>T SNV Uncertain significance 633479 rs1569481993 X:62926334-62926334 X:63706454-63706454 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.1889G>A (p.Arg630Gln) SNV Uncertain significance 193839 rs145670933 2:166900333-166900333 2:166043823-166043823 EPL164 Epilepsy NTSR1 deletion Uncertain significance 635913 20:61347565-61502268 EPL164 Epilepsy OGFR deletion Uncertain significance 635913 20:61347565-61502268 EPL164 Epilepsy TCFL5 deletion Uncertain significance 635913 20:61347565-61502268 EPL164 Epilepsy COL9A3 deletion Uncertain significance 635913 20:61347565-61502268 EPL164 Epilepsy DPH3P1 deletion Uncertain significance 635913 20:61347565-61502268 EPL164 Epilepsy MRGBP deletion Uncertain significance 635913 20:61347565-61502268 EPL164 Epilepsy COBLL1 NC_000002.11:g.165492423_165973543dup duplication Uncertain significance 635918 2:165492423-165973543 EPL164 Epilepsy SCN3A NC_000002.11:g.165492423_165973543dup duplication Uncertain significance 635918 2:165492423-165973543 EPL164 Epilepsy SLC38A11 NC_000002.11:g.165492423_165973543dup duplication Uncertain significance 635918 2:165492423-165973543 EPL164 Epilepsy PIGQ NM_004204.5(PIGQ):c.184G>A (p.Val62Met) SNV Uncertain significance 834699 16:624258-624258 16:574258-574258 EPL164 Epilepsy PIGQ NM_004204.5(PIGQ):c.194C>T (p.Thr65Ile) SNV Uncertain significance 856227 16:624268-624268 16:574268-574268 EPL164 Epilepsy PIGQ NM_004204.5(PIGQ):c.445G>A (p.Asp149Asn) SNV Uncertain significance 842224 16:624519-624519 16:574519-574519 EPL164 Epilepsy PIGQ NM_004204.5(PIGQ):c.512G>A (p.Arg171His) SNV Uncertain significance 843815 16:624586-624586 16:574586-574586 EPL164 Epilepsy PIGQ NM_004204.5(PIGQ):c.794A>G (p.Lys265Arg) SNV Uncertain significance 850822 16:625943-625943 16:575943-575943 EPL164 Epilepsy PIGQ NM_004204.5(PIGQ):c.805C>T (p.Pro269Ser) SNV Uncertain significance 847052 16:625954-625954 16:575954-575954 EPL164 Epilepsy PIGQ NM_004204.5(PIGQ):c.946G>A (p.Val316Met) SNV Uncertain significance 852239 16:628382-628382 16:578382-578382 EPL164 Epilepsy PIGQ NM_004204.5(PIGQ):c.1137G>A (p.Leu379=) SNV Uncertain significance 837853 16:628852-628852 16:578852-578852 EPL164 Epilepsy PIGQ NM_004204.5(PIGQ):c.1210G>A (p.Val404Ile) SNV Uncertain significance 844685 16:628925-628925 16:578925-578925 EPL164 Epilepsy PIGQ NM_004204.5(PIGQ):c.1421G>A (p.Arg474Gln) SNV Uncertain significance 844006 16:630862-630862 16:580862-580862 EPL164 Epilepsy PIGQ NM_004204.5(PIGQ):c.1505G>T (p.Arg502Leu) SNV Uncertain significance 863367 16:630946-630946 16:580946-580946 EPL164 Epilepsy PIGQ NM_004204.5(PIGQ):c.1688A>G (p.Lys563Arg) SNV Uncertain significance 858625 16:632977-632977 16:582977-582977 EPL164 Epilepsy PIGQ NM_004204.5(PIGQ):c.1741G>A (p.Asp581Asn) SNV Uncertain significance 851524 16:633030-633030 16:583030-583030 EPL164 Epilepsy PIGQ NM_004204.5(PIGQ):c.1417-3C>T SNV Uncertain significance 852363 16:630855-630855 16:580855-580855 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.2459T>C (p.Ile820Thr) SNV Uncertain significance 331888 rs886055045 2:166896063-166896063 2:166039553-166039553 EPL164 Epilepsy SCN1A NM_006920.6(SCN1A):c.2011-14A>T SNV Uncertain significance 331893 rs537722606 2:166898948-166898948 2:166042438-166042438 EPL164 Epilepsy ND4 NC_012920.1:m.11815C>G SNV Uncertain significance 370053 rs879025367 MT:11815-11815 MT:11815-11815 EPL164 Epilepsy ND4 NC_012920.1:m.12013A>G SNV Uncertain significance 370056 rs1057516067 MT:12013-12013 MT:12013-12013 EPL164 Epilepsy ND4 NC_012920.1:m.12018C>G SNV Uncertain significance 370057 rs1057516068 MT:12018-12018 MT:12018-12018 EPL164 Epilepsy CYTB NC_012920.1:m.15060G>A SNV Uncertain significance 370062 rs1057516072 MT:15060-15060 MT:15060-15060 EPL164 Epilepsy TRNV NC_012920.1:m.1655A>G SNV Uncertain significance 370044 rs1057516056 MT:1655-1655 MT:1655-1655 EPL164 Epilepsy TRNV NC_012920.1:m.1661A>G SNV Uncertain significance 370043 rs1057516055 MT:1661-1661 MT:1661-1661 EPL164 Epilepsy ND2 NC_012920.1:m.4664C>T SNV Uncertain significance 370047 rs1057516059 MT:4664-4664 MT:4664-4664 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.*1121T>C SNV Uncertain significance 331867 rs886055034 2:166846634-166846634 2:165990124-165990124 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.*977T>C SNV Uncertain significance 331870 rs886055035 2:166846778-166846778 2:165990268-165990268 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.*878dup duplication Uncertain significance 331872 rs886055037 2:166846876-166846877 2:165990366-165990367 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.*672_*675del deletion Uncertain significance 331874 rs886055038 2:166847080-166847083 2:165990570-165990573 EPL164 Epilepsy MEF2C NM_002397.5(MEF2C):c.152C>T (p.Thr51Ile) SNV Uncertain significance 374239 rs1057519001 5:88100521-88100521 5:88804704-88804704 EPL164 Epilepsy NRXN2 NM_015080.4(NRXN2):c.551T>G (p.Leu184Arg) SNV Uncertain significance 374235 rs1057518997 11:64480621-64480621 11:64713149-64713149 EPL164 Epilepsy CACNA1C NM_000719.7(CACNA1C):c.1841T>C (p.Leu614Pro) SNV Uncertain significance 374232 rs1057518994 12:2676906-2676906 12:2567740-2567740 EPL164 Epilepsy ATP8A2 NM_016529.6(ATP8A2):c.1883G>A (p.Cys628Tyr) SNV Uncertain significance 374234 rs1057518996 13:26153961-26153961 13:25579823-25579823 EPL164 Epilepsy STRADA NM_001003787.4(STRADA):c.792T>A (p.Ser264Arg) SNV Uncertain significance 374250 rs1057519011 17:61784061-61784061 17:63706701-63706701 EPL164 Epilepsy DLG3 NM_021120.4(DLG3):c.1469G>A (p.Ser490Asn) SNV Uncertain significance 374247 rs1057519008 X:69699063-69699063 X:70479213-70479213 EPL164 Epilepsy CHRNA1 NM_001039523.3(CHRNA1):c.485C>T (p.Thr162Met) SNV Uncertain significance 425235 rs780391418 2:175619077-175619077 2:174754349-174754349 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.400C>T (p.Arg134Cys) SNV Uncertain significance 456047 rs199780849 16:624474-624474 16:574474-574474 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.892G>A (p.Gly298Arg) SNV Uncertain significance 456056 rs750484214 16:626204-626204 16:576204-576204 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1291G>A (p.Val431Ile) SNV Uncertain significance 456030 rs377584268 16:629136-629136 16:579136-579136 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.556G>A (p.Val186Met) SNV Uncertain significance 456049 rs369384971 16:624630-624630 16:574630-574630 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.290G>T (p.Cys97Phe) SNV Uncertain significance 456042 rs78957457 16:624364-624364 16:574364-574364 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.473G>A (p.Ser158Asn) SNV Uncertain significance 456048 rs201595639 16:624547-624547 16:574547-574547 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.690-3C>T SNV Uncertain significance 456052 rs370348620 16:625836-625836 16:575836-575836 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1517C>T (p.Pro506Leu) SNV Uncertain significance 456034 rs146518413 16:630958-630958 16:580958-580958 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.236G>A (p.Arg79His) SNV Uncertain significance 456040 rs1424030074 16:624310-624310 16:574310-574310 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.295G>A (p.Glu99Lys) SNV Uncertain significance 456043 rs200383861 16:624369-624369 16:574369-574369 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.613G>T (p.Ala205Ser) SNV Uncertain significance 456050 rs1555451827 16:624687-624687 16:574687-574687 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1514G>A (p.Arg505Gln) SNV Uncertain significance 456033 rs760318704 16:630955-630955 16:580955-580955 EPL164 Epilepsy PIGQ NC_000016.10:g.(?_578765)_(579200_?)del deletion Uncertain significance 526296 16:628765-629200 16:578765-579200 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.634A>C (p.Ile212Leu) SNV Uncertain significance 526277 rs758356668 16:624708-624708 16:574708-574708 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.885G>T (p.Trp295Cys) SNV Uncertain significance 526271 rs1249538886 16:626197-626197 16:576197-576197 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1302G>T (p.Gln434His) SNV Uncertain significance 526281 rs147895518 16:629147-629147 16:579147-579147 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.676G>A (p.Val226Ile) SNV Uncertain significance 526273 rs376471933 16:624750-624750 16:574750-574750 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1117G>A (p.Val373Met) SNV Uncertain significance 526269 rs150887807 16:628832-628832 16:578832-578832 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1685G>A (p.Arg562His) SNV Uncertain significance 526270 rs372069327 16:632974-632974 16:582974-582974 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.39_40delinsAG (p.Thr14Ala) indel Uncertain significance 526275 rs1555451582 16:624113-624114 16:574113-574114 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.77A>G (p.Glu26Gly) SNV Uncertain significance 526280 rs753650660 16:624151-624151 16:574151-574151 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.335G>A (p.Arg112Gln) SNV Uncertain significance 526268 rs200272055 16:624409-624409 16:574409-574409 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1730G>A (p.Gly577Glu) SNV Uncertain significance 571132 rs1567178400 16:633019-633019 16:583019-583019 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.688C>T (p.Arg230Ter) SNV Uncertain significance 578064 rs1206309859 16:624762-624762 16:574762-574762 EPL164 Epilepsy PIGQ NC_000016.10:g.(?_582883)_(648190_?)del deletion Uncertain significance 583884 16:632883-698190 16:582883-648190 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1675G>A (p.Ala559Thr) SNV Uncertain significance 575291 rs202068219 16:632964-632964 16:582964-582964 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.643C>G (p.Leu215Val) SNV Uncertain significance 576415 rs1567175086 16:624717-624717 16:574717-574717 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1223+6C>T SNV Uncertain significance 577487 rs778074464 16:628944-628944 16:578944-578944 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.74C>T (p.Pro25Leu) SNV Uncertain significance 567792 rs531991910 16:624148-624148 16:574148-574148 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.242T>C (p.Leu81Pro) SNV Uncertain significance 578170 rs1467620158 16:624316-624316 16:574316-574316 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.821+3G>A SNV Uncertain significance 571164 rs199735408 16:625973-625973 16:575973-575973 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.902G>A (p.Arg301His) SNV Uncertain significance 574611 rs371210440 16:626214-626214 16:576214-576214 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.919G>A (p.Asp307Asn) SNV Uncertain significance 578974 rs377584601 16:626231-626231 16:576231-576231 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1130C>T (p.Ala377Val) SNV Uncertain significance 572786 rs1567176628 16:628845-628845 16:578845-578845 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1438G>A (p.Val480Met) SNV Uncertain significance 575281 rs148537594 16:630879-630879 16:580879-580879 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1628C>G (p.Thr543Ser) SNV Uncertain significance 567020 rs142961139 16:632917-632917 16:582917-582917 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1634G>A (p.Arg545His) SNV Uncertain significance 566871 rs749557732 16:632923-632923 16:582923-582923 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1454A>G (p.His485Arg) SNV Uncertain significance 567505 rs769102651 16:630895-630895 16:580895-580895 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1631dup (p.Tyr544Ter) duplication Uncertain significance 576638 rs760045515 16:632919-632920 16:582919-582920 EPL164 Epilepsy CHRNA1 NM_001039523.3(CHRNA1):c.785A>T (p.Asn262Ile) SNV Uncertain significance 560637 rs1558911753 2:175618299-175618299 2:174753571-174753571 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.689G>A (p.Arg230Gln) SNV Uncertain significance 526279 rs1251694138 16:624763-624763 16:574763-574763 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1487T>C (p.Leu496Pro) SNV Uncertain significance 526278 rs746073489 16:630928-630928 16:580928-580928 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1571G>A (p.Arg524Lys) SNV Uncertain significance 526276 rs143762913 16:632287-632287 16:582287-582287 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.91G>A (p.Val31Met) SNV Uncertain significance 526274 rs148273392 16:624165-624165 16:574165-574165 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.476C>T (p.Thr159Met) SNV Uncertain significance 526272 rs377253487 16:624550-624550 16:574550-574550 EPL164 Epilepsy SCN9A NM_001365536.1(SCN9A):c.328T>C (p.Ser110Pro) SNV Uncertain significance 637054 2:167163515-167163515 2:166307005-166307005 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.499G>A (p.Asp167Asn) SNV Uncertain significance 656379 16:624573-624573 16:574573-574573 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.65G>A (p.Arg22Gln) SNV Uncertain significance 654701 16:624139-624139 16:574139-574139 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.158G>A (p.Arg53Gln) SNV Uncertain significance 652523 16:624232-624232 16:574232-574232 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.178G>A (p.Val60Met) SNV Uncertain significance 639063 16:624252-624252 16:574252-574252 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.341C>T (p.Ala114Val) SNV Uncertain significance 655852 16:624415-624415 16:574415-574415 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.355G>A (p.Gly119Ser) SNV Uncertain significance 664127 16:624429-624429 16:574429-574429 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.422T>C (p.Leu141Pro) SNV Uncertain significance 652896 16:624496-624496 16:574496-574496 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.527T>C (p.Phe176Ser) SNV Uncertain significance 665669 16:624601-624601 16:574601-574601 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.529C>T (p.Arg177Cys) SNV Uncertain significance 661490 16:624603-624603 16:574603-574603 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.604G>A (p.Ala202Thr) SNV Uncertain significance 641628 16:624678-624678 16:574678-574678 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.605C>T (p.Ala202Val) SNV Uncertain significance 663903 16:624679-624679 16:574679-574679 EPL164 Epilepsy PIGQ NM_004204.5(PIGQ):c.618del (p.Arg206fs) deletion Uncertain significance 644371 16:624691-624691 16:574691-574691 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.721G>A (p.Gly241Arg) SNV Uncertain significance 640622 16:625870-625870 16:575870-575870 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.737C>T (p.Thr246Met) SNV Uncertain significance 660057 16:625886-625886 16:575886-575886 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.832A>G (p.Thr278Ala) SNV Uncertain significance 650673 16:626144-626144 16:576144-576144 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.874C>G (p.Leu292Val) SNV Uncertain significance 654825 16:626186-626186 16:576186-576186 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.907G>A (p.Gly303Arg) SNV Uncertain significance 641333 16:626219-626219 16:576219-576219 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1094_1095inv (p.Phe365Ter) inversion Uncertain significance 656795 16:628809-628810 16:578809-578810 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1113G>A (p.Trp371Ter) SNV Uncertain significance 642336 16:628828-628828 16:578828-578828 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1145C>T (p.Thr382Met) SNV Uncertain significance 653857 16:628860-628860 16:578860-578860 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1177G>A (p.Ala393Thr) SNV Uncertain significance 643745 16:628892-628892 16:578892-578892 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1504C>T (p.Arg502Trp) SNV Uncertain significance 645597 16:630945-630945 16:580945-580945 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1530G>A (p.Ala510=) SNV Uncertain significance 662977 16:630971-630971 16:580971-580971 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1546C>T (p.Arg516Cys) SNV Uncertain significance 659666 16:632262-632262 16:582262-582262 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1555C>T (p.Arg519Trp) SNV Uncertain significance 641336 16:632271-632271 16:582271-582271 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1628C>T (p.Thr543Ile) SNV Uncertain significance 659445 16:632917-632917 16:582917-582917 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1717T>A (p.Trp573Arg) SNV Uncertain significance 655042 16:633006-633006 16:583006-583006 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1336-3C>T SNV Uncertain significance 657829 16:630180-630180 16:580180-580180 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1531+3A>T SNV Uncertain significance 651619 16:630975-630975 16:580975-580975 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.943-3C>T SNV Uncertain significance 655942 16:628376-628376 16:578376-578376 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.477G>A (p.Thr159=) SNV Likely benign 526284 rs752792719 16:624551-624551 16:574551-574551 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.183C>T (p.Ala61=) SNV Likely benign 526283 rs748930380 16:624257-624257 16:574257-574257 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.41C>T (p.Thr14Met) SNV Likely benign 526290 rs200914759 16:624115-624115 16:574115-574115 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1020G>A (p.Leu340=) SNV Likely benign 526286 rs756884727 16:628456-628456 16:578456-578456 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1461C>T (p.Leu487=) SNV Likely benign 526282 rs1045274 16:630902-630902 16:580902-580902 EPL164 Epilepsy ARHGEF9 NM_001353921.2(ARHGEF9):c.*146G>C SNV Likely benign 633481 rs782358245 X:62857762-62857762 X:63637882-63637882 EPL164 Epilepsy PIGQ NM_004204.5(PIGQ):c.1556G>A (p.Arg519Gln) SNV Likely benign 707354 16:632272-632272 16:582272-582272 EPL164 Epilepsy PIGQ NM_004204.5(PIGQ):c.1674C>T (p.Gly558=) SNV Likely benign 707569 16:632963-632963 16:582963-582963 EPL164 Epilepsy PIGQ NM_004204.5(PIGQ):c.498C>T (p.Phe166=) SNV Likely benign 770049 16:624572-624572 16:574572-574572 EPL164 Epilepsy PIGQ NM_004204.5(PIGQ):c.616A>C (p.Arg206=) SNV Likely benign 772726 16:624690-624690 16:574690-574690 EPL164 Epilepsy PIGQ NM_004204.5(PIGQ):c.1437C>T (p.Ala479=) SNV Likely benign 772592 16:630878-630878 16:580878-580878 EPL164 Epilepsy PIGQ NM_004204.5(PIGQ):c.579G>A (p.Ser193=) SNV Likely benign 791758 16:624653-624653 16:574653-574653 EPL164 Epilepsy PIGQ NM_004204.5(PIGQ):c.798G>A (p.Ala266=) SNV Likely benign 707985 16:625947-625947 16:575947-575947 EPL164 Epilepsy PIGQ NM_004204.5(PIGQ):c.1501C>T (p.Leu501Phe) SNV Likely benign 718059 16:630942-630942 16:580942-580942 EPL164 Epilepsy PIGQ NM_004204.5(PIGQ):c.690-4G>A SNV Likely benign 707864 16:625835-625835 16:575835-575835 EPL164 Epilepsy PIGQ NM_004204.5(PIGQ):c.943-5T>C SNV Likely benign 713654 16:628374-628374 16:578374-578374 EPL164 Epilepsy PIGQ NM_004204.5(PIGQ):c.219C>T (p.Pro73=) SNV Likely benign 732302 16:624293-624293 16:574293-574293 EPL164 Epilepsy PIGQ NM_004204.5(PIGQ):c.1223+7G>A SNV Likely benign 734195 16:628945-628945 16:578945-578945 EPL164 Epilepsy PIGQ NM_004204.5(PIGQ):c.412C>T (p.Leu138=) SNV Likely benign 742183 16:624486-624486 16:574486-574486 EPL164 Epilepsy PIGQ NM_004204.5(PIGQ):c.564G>A (p.Leu188=) SNV Likely benign 740680 16:624638-624638 16:574638-574638 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.486G>C (p.Leu162=) SNV Likely benign 526289 rs544058493 16:624560-624560 16:574560-574560 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1557G>C (p.Arg519=) SNV Likely benign 526293 rs1252406741 16:632273-632273 16:582273-582273 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1274G>T (p.Arg425Leu) SNV Likely benign 526295 rs202031540 16:629119-629119 16:579119-579119 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.925C>G (p.Leu309Val) SNV Likely benign 526287 rs145216283 16:626237-626237 16:576237-576237 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1116C>T (p.His372=) SNV Likely benign 526288 rs148430693 16:628831-628831 16:578831-578831 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1615C>T (p.Arg539Cys) SNV Likely benign 526292 rs147312685 16:632904-632904 16:582904-582904 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.752G>A (p.Arg251Gln) SNV Likely benign 526291 rs142432798 16:625901-625901 16:575901-575901 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.429G>A (p.Leu143=) SNV Likely benign 526285 rs33997204 16:624503-624503 16:574503-574503 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.996C>T (p.Ala332=) SNV Likely benign 456058 rs112667694 16:628432-628432 16:578432-578432 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1546C>A (p.Arg516Ser) SNV Likely benign 456035 rs144613953 16:632262-632262 16:582262-582262 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.350C>T (p.Ala117Val) SNV Likely benign 456046 rs111753944 16:624424-624424 16:574424-574424 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.918C>T (p.Ala306=) SNV Likely benign 456057 rs148911709 16:626230-626230 16:576230-576230 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1485G>A (p.Pro495=) SNV Likely benign 456031 rs151202639 16:630926-630926 16:580926-580926 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1505G>A (p.Arg502Gln) SNV Likely benign 456032 rs145602990 16:630946-630946 16:580946-580946 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1209C>T (p.Tyr403=) SNV Likely benign 456028 rs140668735 16:628924-628924 16:578924-578924 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1253C>G (p.Ser418Cys) SNV Likely benign 456029 rs144619714 16:629098-629098 16:579098-579098 EPL164 Epilepsy KCNT1 NM_020822.3(KCNT1):c.2454C>T (p.Ile818=) SNV Likely benign 417221 rs149452823 9:138669288-138669288 9:135777442-135777442 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.225G>A (p.Glu75=) SNV Likely benign 456039 rs1555451628 16:624299-624299 16:574299-574299 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.*172dup duplication Likely benign 331878 rs113696479 2:166847582-166847583 2:165991072-165991073 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.*1031A>T SNV Likely benign 331868 rs114522414 2:166846724-166846724 2:165990214-165990214 EPL164 Epilepsy SCN1A NM_006920.6(SCN1A):c.2144-9dup duplication Likely benign 331889 rs747086735 2:166897986-166897987 2:166041476-166041477 EPL164 Epilepsy ARHGEF9 NM_001353921.2(ARHGEF9):c.31-29459T>C SNV Likely benign 633478 rs145382128 X:62974050-62974050 X:63754170-63754170 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.165C>T (p.Ala55=) SNV Likely benign 456038 rs777873607 16:624239-624239 16:574239-574239 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) SNV Benign/Likely benign 36754 rs36031496 2:166868775-166868775 2:166012265-166012265 EPL164 Epilepsy SCN1A NM_006920.6(SCN1A):c.1171-10_1171-9del deletion Benign/Likely benign 93628 rs372840031 2:166903495-166903496 2:166046985-166046986 EPL164 Epilepsy SCN1A NM_006920.6(SCN1A):c.1662+9C>A SNV Benign/Likely benign 93633 rs7559148 2:166901544-166901544 2:166045034-166045034 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=) SNV Benign/Likely benign 93642 rs144679294 2:166894343-166894343 2:166037833-166037833 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.345T>C (p.Asn115=) SNV Benign/Likely benign 93643 rs61741123 2:166915118-166915118 2:166058608-166058608 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.2421C>T (p.Phe807=) SNV Benign/Likely benign 194359 rs145101180 2:166896101-166896101 2:166039591-166039591 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) SNV Benign/Likely benign 195942 rs148546224 2:166848840-166848840 2:165992330-165992330 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=) SNV Benign/Likely benign 93657 rs140237315 2:166848367-166848367 2:165991857-165991857 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr) SNV Benign/Likely benign 93660 rs35735053 2:166847921-166847921 2:165991411-165991411 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly) SNV Benign/Likely benign 68574 rs121917956 2:166848003-166848003 2:165991493-165991493 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) SNV Benign/Likely benign 68589 rs121918769 2:166900411-166900411 2:166043901-166043901 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.*1693A>G SNV Benign/Likely benign 331863 rs7591522 2:166846062-166846062 2:165989552-165989552 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.*1025T>C SNV Benign/Likely benign 331869 rs10497275 2:166846730-166846730 2:165990220-165990220 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.*1961C>T SNV Benign/Likely benign 331856 rs7577411 2:166845794-166845794 2:165989284-165989284 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.*1224G>A SNV Benign/Likely benign 331866 rs77088538 2:166846531-166846531 2:165990021-165990021 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.4551A>G (p.Lys1517=) SNV Benign/Likely benign 331883 rs374087499 2:166852553-166852553 2:165996043-165996043 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.*588A>G SNV Benign/Likely benign 331875 rs539073575 2:166847167-166847167 2:165990657-165990657 EPL164 Epilepsy SCN1A NM_006920.6(SCN1A):c.2011-5del deletion Benign/Likely benign 331892 rs549232924 2:166898939-166898939 2:166042429-166042429 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.*1952T>C SNV Benign/Likely benign 331857 rs184794128 2:166845803-166845803 2:165989293-165989293 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.*1653C>T SNV Benign/Likely benign 331864 rs79971813 2:166846102-166846102 2:165989592-165989592 EPL164 Epilepsy SCN1A NM_006920.6(SCN1A):c.2144-24dup duplication Benign 331890 rs11394960 2:166897989-166897990 2:166041479-166041480 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) SNV Benign 36751 rs7580482 2:166903445-166903445 2:166046935-166046935 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.2292T>C (p.Val764=) SNV Benign 36752 rs6432860 2:166897864-166897864 2:166041354-166041354 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) SNV Benign 36753 rs2298771 2:166892788-166892788 2:166036278-166036278 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.*1739C>T SNV Benign 331862 rs1813502 2:166846016-166846016 2:165989506-165989506 EPL164 Epilepsy SCN1A NM_001165963.4(SCN1A):c.*721A>G SNV Benign 331873 rs4667859 2:166847034-166847034 2:165990524-165990524 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.322G>A (p.Glu108Lys) SNV Benign 456044 rs200388707 16:624396-624396 16:574396-574396 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.915G>C (p.Leu305=) SNV Benign 456055 rs75952679 16:626227-626227 16:576227-576227 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.620G>A (p.Arg207Gln) SNV Benign 456051 rs200353362 16:624694-624694 16:574694-574694 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.34G>A (p.Val12Ile) SNV Benign 456045 rs11864607 16:624108-624108 16:574108-574108 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1568G>A (p.Gly523Asp) SNV Benign 456036 rs117537178 16:632284-632284 16:582284-582284 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.75G>A (p.Pro25=) SNV Benign 456053 rs56293456 16:624149-624149 16:574149-574149 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.27G>A (p.Thr9=) SNV Benign 456041 rs61753370 16:624101-624101 16:574101-574101 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.1617C>T (p.Arg539=) SNV Benign 456037 rs141040910 16:632906-632906 16:582906-582906 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.810C>T (p.Ala270=) SNV Benign 456054 rs35227916 16:625959-625959 16:575959-575959 EPL164 Epilepsy ARHGEF9 NM_001353921.2(ARHGEF9):c.1322-49T>G SNV Benign 633480 rs56401522 X:62863977-62863977 X:63644097-63644097 EPL164 Epilepsy PIGQ NM_004204.4(PIGQ):c.849G>T (p.Leu283=) SNV Benign 526294 rs373615860 16:626161-626161 16:576161-576161 EPL164 Epilepsy EFHC1 NM_018100.4(EFHC1):c.723+18_723+19insG insertion association 830042 6:52317653-52317654 6:52452855-52452856 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.628G>A (p.Asp210Asn) SNV Pathogenic 2065 rs137852777 6:52317540-52317540 6:52452742-52452742 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.826C>T (p.Arg276Ter) SNV Pathogenic 210912 rs796052414 6:52318995-52318995 6:52454197-52454197 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.757G>T (p.Asp253Tyr) SNV risk factor 2066 rs137852778 6:52318926-52318926 6:52454128-52454128 EPL198 Epilepsy, Myoclonic Juvenile GABRA1 NM_001127644.2(GABRA1):c.268G>A (p.Asp90Asn) SNV Likely pathogenic 802172 5:161300135-161300135 5:161873129-161873129 EPL198 Epilepsy, Myoclonic Juvenile GABRA1 NM_001127644.2(GABRA1):c.897T>G (p.Ser299Arg) SNV Likely pathogenic 802173 5:161322712-161322712 5:161895706-161895706 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.883C>T (p.Gln295Ter) SNV risk factor 2070 rs137852781 6:52319052-52319052 6:52454254-52454254 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.311G>T (p.Cys104Phe) SNV Conflicting interpretations of pathogenicity 7608 rs1805031 2:152737393-152737393 2:151880879-151880879 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.662G>A (p.Arg221His) SNV Conflicting interpretations of pathogenicity 205384 rs79761183 6:52317574-52317574 6:52452776-52452776 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.629A>T (p.Asp210Val) SNV Conflicting interpretations of pathogenicity 95886 rs73740379 6:52317541-52317541 6:52452743-52452743 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr) SNV Conflicting interpretations of pathogenicity 205400 rs149055334 6:52288909-52288909 6:52424111-52424111 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) SNV Conflicting interpretations of pathogenicity 2064 rs137852776 6:52317597-52317597 6:52452799-52452799 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp) SNV Conflicting interpretations of pathogenicity 128964 rs369503191 6:52355109-52355109 6:52490311-52490311 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1852-6C>G SNV Conflicting interpretations of pathogenicity 128965 rs372507832 6:52357062-52357062 6:52492264-52492264 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.90G>A (p.Thr30=) SNV Conflicting interpretations of pathogenicity 128971 rs140429638 6:52288770-52288770 6:52423972-52423972 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.887G>A (p.Arg296His) SNV Conflicting interpretations of pathogenicity 137192 rs115205076 6:52319056-52319056 6:52454258-52454258 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.64-5T>C SNV Conflicting interpretations of pathogenicity 137193 rs201860746 6:52288739-52288739 6:52423941-52423941 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.5C>T (p.Ser2Phe) SNV Conflicting interpretations of pathogenicity 193120 rs200092211 2:152955521-152955521 2:152099007-152099007 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1675T>C (p.Leu559=) SNV Conflicting interpretations of pathogenicity 193726 rs145194882 6:52354972-52354972 6:52490174-52490174 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1587G>A (p.Ala529=) SNV Conflicting interpretations of pathogenicity 137196 rs377227885 6:52344532-52344532 6:52479734-52479734 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.44C>G (p.Pro15Arg) SNV Conflicting interpretations of pathogenicity 204939 rs200662010 2:152955482-152955482 2:152098968-152098968 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.8C>T (p.Ser3Phe) SNV Conflicting interpretations of pathogenicity 204938 rs542973906 2:152955518-152955518 2:152099004-152099004 EPL198 Epilepsy, Myoclonic Juvenile GABRA1 NM_001127644.2(GABRA1):c.-4C>T SNV Conflicting interpretations of pathogenicity 205513 rs375475234 5:161277813-161277813 5:161850807-161850807 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.22G>C (p.Gly8Arg) SNV Conflicting interpretations of pathogenicity 205418 rs200510672 6:52285230-52285230 6:52420432-52420432 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.43A>G (p.Thr15Ala) SNV Conflicting interpretations of pathogenicity 205380 rs750899949 6:52285251-52285251 6:52420453-52420453 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.89C>T (p.Thr30Met) SNV Conflicting interpretations of pathogenicity 205396 rs200435907 6:52288769-52288769 6:52423971-52423971 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.97T>C (p.Tyr33His) SNV Conflicting interpretations of pathogenicity 205397 rs374402088 6:52288777-52288777 6:52423979-52423979 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.151C>T (p.Arg51Trp) SNV Conflicting interpretations of pathogenicity 205398 rs374661645 6:52288831-52288831 6:52424033-52424033 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.547G>A (p.Val183Ile) SNV Conflicting interpretations of pathogenicity 205378 rs769591944 6:52303363-52303363 6:52438565-52438565 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.661C>T (p.Arg221Cys) SNV Conflicting interpretations of pathogenicity 205383 rs139197513 6:52317573-52317573 6:52452775-52452775 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln) SNV Conflicting interpretations of pathogenicity 205389 rs145754721 6:52318948-52318948 6:52454150-52454150 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1057C>T (p.Arg353Trp) SNV Conflicting interpretations of pathogenicity 205401 rs527295360 6:52329833-52329833 6:52465035-52465035 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1058G>A (p.Arg353Gln) SNV Conflicting interpretations of pathogenicity 205402 rs377732929 6:52329834-52329834 6:52465036-52465036 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1114C>T (p.Arg372Trp) SNV Conflicting interpretations of pathogenicity 205403 rs371151471 6:52329890-52329890 6:52465092-52465092 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1557C>T (p.Asn519=) SNV Conflicting interpretations of pathogenicity 205379 rs773385237 6:52344502-52344502 6:52479704-52479704 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter) SNV Conflicting interpretations of pathogenicity 205414 rs149998588 6:52344557-52344557 6:52479759-52479759 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1856T>G (p.Ile619Ser) SNV Conflicting interpretations of pathogenicity 205416 rs142458862 6:52357072-52357072 6:52492274-52492274 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.544C>T (p.Arg182Cys) SNV Conflicting interpretations of pathogenicity 402820 rs200191497 6:52303360-52303360 6:52438562-52438562 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*5433A>G SNV Conflicting interpretations of pathogenicity 331556 rs563567053 2:152690200-152690200 2:151833686-151833686 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*4081G>A SNV Conflicting interpretations of pathogenicity 331573 rs148903851 2:152691552-152691552 2:151835038-151835038 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*4131A>G SNV Conflicting interpretations of pathogenicity 331572 rs373381936 2:152691502-152691502 2:151834988-151834988 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*3668T>C SNV Conflicting interpretations of pathogenicity 331576 rs543493236 2:152691965-152691965 2:151835451-151835451 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*2188T>G SNV Conflicting interpretations of pathogenicity 331590 rs548234328 2:152693445-152693445 2:151836931-151836931 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*6183A>G SNV Conflicting interpretations of pathogenicity 331547 rs185830609 2:152689450-152689450 2:151832936-151832936 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*3475A>T SNV Conflicting interpretations of pathogenicity 331577 rs567549082 2:152692158-152692158 2:151835644-151835644 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*1110C>A SNV Conflicting interpretations of pathogenicity 331611 rs147608603 2:152694523-152694523 2:151838009-151838009 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1194T>C (p.Phe398=) SNV Conflicting interpretations of pathogenicity 357483 rs201946033 6:52334187-52334187 6:52469389-52469389 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*1025_*1026AT[12] short repeat Conflicting interpretations of pathogenicity 357501 rs59794069 6:52358163-52358164 6:52493365-52493366 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*1045delinsATATATATATATATATATATATATATATATATA indel Uncertain significance 357510 rs886061633 6:52358184-52358184 6:52493386-52493386 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.346A>G (p.Arg116Gly) SNV Uncertain significance 357479 rs886061627 6:52303162-52303162 6:52438364-52438364 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1895A>G (p.Tyr632Cys) SNV Uncertain significance 357486 rs770182350 6:52357111-52357111 6:52492313-52492313 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*66C>G SNV Uncertain significance 357487 rs574373324 6:52357205-52357205 6:52492407-52492407 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*1064_*1065AC[4] short repeat Uncertain significance 357511 rs886061634 6:52358203-52358204 6:52493405-52493406 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.559G>A (p.Asp187Asn) SNV Uncertain significance 357480 rs148615781 6:52303375-52303375 6:52438577-52438577 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.666_671del (p.Lys222_Val224delinsAsn) deletion Uncertain significance 357481 rs886061628 6:52317578-52317583 6:52452780-52452785 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1197T>C (p.Ala399=) SNV Uncertain significance 357484 rs886061630 6:52334190-52334190 6:52469392-52469392 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1265A>T (p.Tyr422Phe) SNV Uncertain significance 357485 rs750259384 6:52334258-52334258 6:52469460-52469460 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*681G>A SNV Uncertain significance 357496 rs560182875 6:52357820-52357820 6:52493022-52493022 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*549_*550TA[3] short repeat Uncertain significance 357495 rs886061631 6:52357687-52357688 6:52492889-52492890 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*226A>G SNV Uncertain significance 357491 rs562067977 6:52357365-52357365 6:52492567-52492567 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.3(EFHC1):c.-162C>T SNV Uncertain significance 357476 rs41273738 6:52285047-52285047 6:52420249-52420249 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.144C>T (p.Gly48=) SNV Uncertain significance 357478 rs372240827 6:52288824-52288824 6:52424026-52424026 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*140C>T SNV Uncertain significance 357490 rs78906153 6:52357279-52357279 6:52492481-52492481 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*527C>T SNV Uncertain significance 357494 rs540732861 6:52357666-52357666 6:52492868-52492868 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*1025_*1026AT[19] short repeat Uncertain significance 357504 rs59794069 6:52358163-52358164 6:52493365-52493366 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*1025_*1026AT[14] short repeat Uncertain significance 357503 rs59794069 6:52358163-52358164 6:52493365-52493366 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*1025_*1026AT[21] short repeat Uncertain significance 357506 rs59794069 6:52358163-52358164 6:52493365-52493366 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*1045delinsATATATATATATA indel Uncertain significance 357509 rs886061633 6:52358184-52358184 6:52493386-52493386 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*1481_*1482TC[1] short repeat Uncertain significance 357514 rs886061636 6:52358620-52358621 6:52493822-52493823 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*1813dup duplication Uncertain significance 357518 rs201262358 6:52358946-52358947 6:52494148-52494149 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*1876T>G SNV Uncertain significance 357519 rs148070071 6:52359015-52359015 6:52494217-52494217 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*2211C>T SNV Uncertain significance 357522 rs753392817 6:52359350-52359350 6:52494552-52494552 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*99T>A SNV Uncertain significance 357488 rs151292895 6:52357238-52357238 6:52492440-52492440 EPL198 Epilepsy, Myoclonic Juvenile CHRNA1 NM_001039523.3(CHRNA1):c.394C>T (p.Arg132Cys) SNV Uncertain significance 332448 rs140268343 2:175622319-175622319 2:174757591-174757591 EPL198 Epilepsy, Myoclonic Juvenile GABRA1 NM_000806.5(GABRA1):c.-442dup duplication Uncertain significance 352580 rs201310567 5:161274215-161274216 5:161847209-161847210 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.800A>G (p.Tyr267Cys) SNV Uncertain significance 357482 rs886061629 6:52318969-52318969 6:52454171-52454171 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*151dup duplication Uncertain significance 331628 rs79470866 2:152695481-152695482 2:151838967-151838968 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*1635T>C SNV Uncertain significance 331603 rs886054962 2:152693998-152693998 2:151837484-151837484 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*2913G>C SNV Uncertain significance 357525 rs886061639 6:52360052-52360052 6:52495254-52495254 EPL198 Epilepsy, Myoclonic Juvenile GABRA1 NM_001127644.2(GABRA1):c.1290A>G (p.Leu430=) SNV Uncertain significance 352601 rs886060361 5:161324347-161324347 5:161897341-161897341 EPL198 Epilepsy, Myoclonic Juvenile GABRA1 NM_000806.5(GABRA1):c.-438del deletion Uncertain significance 352584 rs112361424 5:161274224-161274224 5:161847218-161847218 EPL198 Epilepsy, Myoclonic Juvenile GABRA1 NM_001127644.2(GABRA1):c.-117_-112GACTCG[3] short repeat Uncertain significance 352593 rs527890421 5:161275324-161275325 5:161848318-161848319 EPL198 Epilepsy, Myoclonic Juvenile GABRA1 NM_001127644.2(GABRA1):c.*304del deletion Uncertain significance 352603 rs547262225 5:161324724-161324724 5:161897718-161897718 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*896C>T SNV Uncertain significance 357499 rs112311115 6:52358035-52358035 6:52493237-52493237 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*1025_*1026AT[20] short repeat Uncertain significance 357505 rs59794069 6:52358163-52358164 6:52493365-52493366 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*1931T>C SNV Uncertain significance 331595 rs886054958 2:152693702-152693702 2:151837188-151837188 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*3387C>G SNV Uncertain significance 331578 rs886054955 2:152692246-152692246 2:151835732-151835732 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*2924T>C SNV Uncertain significance 331580 rs886054956 2:152692709-152692709 2:151836195-151836195 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*4919G>A SNV Uncertain significance 331565 rs763593694 2:152690714-152690714 2:151834200-151834200 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*4845T>C SNV Uncertain significance 331566 rs886054953 2:152690788-152690788 2:151834274-151834274 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*4569A>G SNV Uncertain significance 331570 rs778742650 2:152691064-152691064 2:151834550-151834550 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*151del deletion Uncertain significance 331629 rs79470866 2:152695482-152695482 2:151838968-151838968 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.337G>T (p.Val113Phe) SNV Uncertain significance 331633 rs886054968 2:152737367-152737367 2:151880853-151880853 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.64-4C>T SNV Uncertain significance 331636 rs886054970 2:152954931-152954931 2:152098417-152098417 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.-57G>T SNV Uncertain significance 331637 rs886054971 2:152955582-152955582 2:152099068-152099068 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*1785G>A SNV Uncertain significance 331601 rs886054961 2:152693848-152693848 2:151837334-151837334 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*737C>T SNV Uncertain significance 331618 rs558590558 2:152694896-152694896 2:151838382-151838382 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*454del deletion Uncertain significance 331624 rs879114509 2:152695179-152695179 2:151838665-151838665 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*442_*443del deletion Uncertain significance 331625 rs886054966 2:152695190-152695191 2:151838676-151838677 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*592T>C SNV Uncertain significance 331621 rs779110885 2:152695041-152695041 2:151838527-151838527 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*454dup duplication Uncertain significance 331623 rs879114509 2:152695178-152695179 2:151838664-151838665 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.1278T>C (p.Tyr426=) SNV Uncertain significance 331630 rs376015337 2:152698441-152698441 2:151841927-151841927 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.642T>C (p.Asp214=) SNV Uncertain significance 331631 rs886054967 2:152727102-152727102 2:151870588-151870588 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.187G>C (p.Asp63His) SNV Uncertain significance 331634 rs886054969 2:152739845-152739845 2:151883331-151883331 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*5995dup duplication Uncertain significance 331549 rs886054949 2:152689637-152689638 2:151833123-151833124 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*5977G>T SNV Uncertain significance 331550 rs886054950 2:152689656-152689656 2:151833142-151833142 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*4145T>C SNV Uncertain significance 331571 rs781255950 2:152691488-152691488 2:151834974-151834974 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*1501del deletion Uncertain significance 331606 rs886054963 2:152694132-152694132 2:151837618-151837618 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*5418T>C SNV Uncertain significance 331557 rs886054952 2:152690215-152690215 2:151833701-151833701 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*5022A>G SNV Uncertain significance 331562 rs548177540 2:152690611-152690611 2:151834097-151834097 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*1952C>A SNV Uncertain significance 331592 rs764877003 2:152693681-152693681 2:151837167-151837167 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*1826A>G SNV Uncertain significance 331598 rs886054959 2:152693807-152693807 2:151837293-151837293 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*5122C>T SNV Uncertain significance 331560 rs187940787 2:152690511-152690511 2:151833997-151833997 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*795T>G SNV Uncertain significance 331616 rs766545084 2:152694838-152694838 2:151838324-151838324 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*624A>T SNV Uncertain significance 331620 rs755272601 2:152695009-152695009 2:151838495-151838495 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*3688G>A SNV Uncertain significance 331575 rs886054954 2:152691945-152691945 2:151835431-151835431 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*2542G>A SNV Uncertain significance 331586 rs886054957 2:152693091-152693091 2:151836577-151836577 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*1937T>G SNV Uncertain significance 331594 rs758893086 2:152693696-152693696 2:151837182-151837182 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*1811C>A SNV Uncertain significance 331600 rs886054960 2:152693822-152693822 2:151837308-151837308 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*1520del deletion Uncertain significance 331604 rs374745796 2:152694113-152694113 2:151837599-151837599 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*1501dup duplication Uncertain significance 331605 rs886054963 2:152694131-152694132 2:151837617-151837618 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*5863T>G SNV Uncertain significance 331551 rs886054951 2:152689770-152689770 2:151833256-151833256 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*5487T>C SNV Uncertain significance 331555 rs111700454 2:152690146-152690146 2:151833632-151833632 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1280A>G (p.Glu427Gly) SNV Uncertain significance 284178 rs756563341 6:52343836-52343836 6:52479038-52479038 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.564A>G (p.Gln188=) SNV Uncertain significance 286058 rs766444850 6:52303380-52303380 6:52438582-52438582 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1221dup (p.Asp408fs) duplication Uncertain significance 411571 rs754483740 6:52334207-52334208 6:52469409-52469410 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1586C>A (p.Ala529Glu) SNV Uncertain significance 411570 rs759944784 6:52344531-52344531 6:52479733-52479733 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.682_692del (p.Asp228fs) deletion Uncertain significance 411574 rs775980459 6:52317590-52317600 6:52452792-52452802 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.125G>A (p.Arg42His) SNV Uncertain significance 411575 rs773598517 6:52288805-52288805 6:52424007-52424007 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1369C>T (p.Arg457Cys) SNV Uncertain significance 411569 rs373196171 6:52343925-52343925 6:52479127-52479127 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.915A>G (p.Ala305=) SNV Uncertain significance 411572 rs1060503381 6:52319084-52319084 6:52454286-52454286 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1739G>C (p.Arg580Pro) SNV Uncertain significance 411573 rs752701116 6:52355036-52355036 6:52490238-52490238 EPL198 Epilepsy, Myoclonic Juvenile CACNA1G NM_018896.5(CACNA1G):c.3315C>A (p.Ser1105Arg) SNV Uncertain significance 451830 rs1216562585 17:48676845-48676845 17:50599484-50599484 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.40G>A (p.Gly14Ser) SNV Uncertain significance 465667 rs1554257650 6:52285248-52285248 6:52420450-52420450 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1492+1G>A SNV Uncertain significance 465663 rs191404037 6:52344049-52344049 6:52479251-52479251 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1888A>G (p.Asn630Asp) SNV Uncertain significance 465666 rs747171841 6:52357104-52357104 6:52492306-52492306 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.379G>C (p.Glu127Gln) SNV Uncertain significance 534107 rs1554258778 6:52303195-52303195 6:52438397-52438397 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.484C>T (p.His162Tyr) SNV Uncertain significance 534108 rs112800954 6:52303300-52303300 6:52438502-52438502 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1147C>T (p.Pro383Ser) SNV Uncertain significance 534110 rs546262142 6:52334140-52334140 6:52469342-52469342 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1549_1559delinsTTTTGAAATACA (p.Glu517_Ala520delinsPheTer) indel Uncertain significance 534105 rs1554261668 6:52344494-52344504 6:52479696-52479706 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.187G>A (p.Asp63Asn) SNV Uncertain significance 534106 rs750083920 6:52288867-52288867 6:52424069-52424069 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.666_674delinsAAG (p.Tyr223_Thr225delinsSer) indel Uncertain significance 534109 rs1554259746 6:52317578-52317586 6:52452780-52452788 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1641-6C>G SNV Uncertain significance 534104 rs1554262183 6:52354932-52354932 6:52490134-52490134 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.165C>G (p.Asn55Lys) SNV Uncertain significance 580362 rs928396576 6:52288845-52288845 6:52424047-52424047 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.556_557TG[1] (p.Cys186_Asp187delinsTer) short repeat Uncertain significance 580308 rs1562447137 6:52303372-52303373 6:52438574-52438575 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.879C>G (p.Asn293Lys) SNV Uncertain significance 576175 rs1562453330 6:52319048-52319048 6:52454250-52454250 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1396T>G (p.Tyr466Asp) SNV Uncertain significance 578529 rs373042342 6:52343952-52343952 6:52479154-52479154 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1768G>C (p.Ala590Pro) SNV Uncertain significance 580955 rs749376467 6:52355065-52355065 6:52490267-52490267 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.241C>T (p.Pro81Ser) SNV Uncertain significance 579355 rs1562442253 6:52288921-52288921 6:52424123-52424123 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.526A>G (p.Ile176Val) SNV Uncertain significance 567847 rs369777400 6:52303342-52303342 6:52438544-52438544 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.637A>T (p.Thr213Ser) SNV Uncertain significance 567935 rs201379297 6:52317549-52317549 6:52452751-52452751 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.749A>T (p.Asp250Val) SNV Uncertain significance 577571 rs1562453181 6:52318918-52318918 6:52454120-52454120 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.797A>G (p.Tyr266Cys) SNV Uncertain significance 570748 rs536323609 6:52318966-52318966 6:52454168-52454168 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1562C>G (p.Ala521Gly) SNV Uncertain significance 572605 rs766675010 6:52344507-52344507 6:52479709-52479709 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1607G>C (p.Arg536Pro) SNV Uncertain significance 571113 rs867304706 6:52344552-52344552 6:52479754-52479754 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.880C>T (p.Arg294Cys) SNV Uncertain significance 572744 rs201543041 6:52319049-52319049 6:52454251-52454251 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.896A>G (p.Lys299Arg) SNV Uncertain significance 581750 rs138973203 6:52319065-52319065 6:52454267-52454267 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1180G>A (p.Ala394Thr) SNV Uncertain significance 574025 rs1562458726 6:52334173-52334173 6:52469375-52469375 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.21T>G (p.His7Gln) SNV Uncertain significance 648818 6:52285229-52285229 6:52420431-52420431 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.59C>T (p.Ser20Phe) SNV Uncertain significance 662783 6:52285267-52285267 6:52420469-52420469 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.145G>A (p.Gly49Arg) SNV Uncertain significance 655656 6:52288825-52288825 6:52424027-52424027 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.199A>G (p.Ser67Gly) SNV Uncertain significance 641875 6:52288879-52288879 6:52424081-52424081 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.290T>C (p.Leu97Pro) SNV Uncertain significance 665527 6:52303106-52303106 6:52438308-52438308 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.305A>G (p.Tyr102Cys) SNV Uncertain significance 658244 6:52303121-52303121 6:52438323-52438323 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.598G>C (p.Glu200Gln) SNV Uncertain significance 646256 6:52317510-52317510 6:52452712-52452712 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.637A>G (p.Thr213Ala) SNV Uncertain significance 659026 6:52317549-52317549 6:52452751-52452751 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.646C>T (p.Arg216Ter) SNV Uncertain significance 660478 6:52317558-52317558 6:52452760-52452760 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.693A>C (p.Gln231His) SNV Uncertain significance 641921 6:52317605-52317605 6:52452807-52452807 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.710C>A (p.Thr237Asn) SNV Uncertain significance 656050 6:52317622-52317622 6:52452824-52452824 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.854G>A (p.Arg285Lys) SNV Uncertain significance 664750 6:52319023-52319023 6:52454225-52454225 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1171del (p.Glu391fs) deletion Uncertain significance 666108 6:52334163-52334163 6:52469365-52469365 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1274T>G (p.Val425Gly) SNV Uncertain significance 661434 6:52334267-52334267 6:52469469-52469469 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1337C>T (p.Thr446Ile) SNV Uncertain significance 641895 6:52343893-52343893 6:52479095-52479095 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1548G>A (p.Met516Ile) SNV Uncertain significance 644582 6:52344493-52344493 6:52479695-52479695 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1606C>G (p.Arg536Gly) SNV Uncertain significance 654115 6:52344551-52344551 6:52479753-52479753 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1606C>T (p.Arg536Ter) SNV Uncertain significance 659694 6:52344551-52344551 6:52479753-52479753 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1663G>A (p.Gly555Ser) SNV Uncertain significance 648955 6:52354960-52354960 6:52490162-52490162 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1776A>G (p.Gly592=) SNV Uncertain significance 647359 6:52355073-52355073 6:52490275-52490275 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.28C>G (p.Pro10Ala) SNV Uncertain significance 842365 6:52285236-52285236 6:52420438-52420438 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.76C>T (p.His26Tyr) SNV Uncertain significance 859506 6:52288756-52288756 6:52423958-52423958 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.110A>G (p.Tyr37Cys) SNV Uncertain significance 836132 6:52288790-52288790 6:52423992-52423992 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.248C>T (p.Ala83Val) SNV Uncertain significance 840601 6:52288928-52288928 6:52424130-52424130 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.336G>A (p.Glu112=) SNV Uncertain significance 854892 6:52303152-52303152 6:52438354-52438354 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.350T>C (p.Ile117Thr) SNV Uncertain significance 854714 6:52303166-52303166 6:52438368-52438368 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.452G>T (p.Arg151Leu) SNV Uncertain significance 863597 6:52303268-52303268 6:52438470-52438470 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.457C>T (p.Arg153Trp) SNV Uncertain significance 846571 6:52303273-52303273 6:52438475-52438475 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.530A>T (p.Tyr177Phe) SNV Uncertain significance 850846 6:52303346-52303346 6:52438548-52438548 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.742A>G (p.Ile248Val) SNV Uncertain significance 837595 6:52318911-52318911 6:52454113-52454113 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.841C>T (p.Arg281Trp) SNV Uncertain significance 834596 6:52319010-52319010 6:52454212-52454212 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.847G>A (p.Asp283Asn) SNV Uncertain significance 846071 6:52319016-52319016 6:52454218-52454218 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.946T>G (p.Ser316Ala) SNV Uncertain significance 839615 6:52329722-52329722 6:52464924-52464924 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1054C>T (p.Arg352Ter) SNV Uncertain significance 839103 6:52329830-52329830 6:52465032-52465032 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1096C>T (p.Arg366Cys) SNV Uncertain significance 841142 6:52329872-52329872 6:52465074-52465074 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1151A>G (p.Tyr384Cys) SNV Uncertain significance 863918 6:52334144-52334144 6:52469346-52469346 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1270G>A (p.Ala424Thr) SNV Uncertain significance 855080 6:52334263-52334263 6:52469465-52469465 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1286C>T (p.Pro429Leu) SNV Uncertain significance 848884 6:52343842-52343842 6:52479044-52479044 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1309A>T (p.Arg437Ter) SNV Uncertain significance 836944 6:52343865-52343865 6:52479067-52479067 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1333G>A (p.Ala445Thr) SNV Uncertain significance 864717 6:52343889-52343889 6:52479091-52479091 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1355T>C (p.Phe452Ser) SNV Uncertain significance 855757 6:52343911-52343911 6:52479113-52479113 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1363C>T (p.Pro455Ser) SNV Uncertain significance 860506 6:52343919-52343919 6:52479121-52479121 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1409C>G (p.Thr470Ser) SNV Uncertain significance 850535 6:52343965-52343965 6:52479167-52479167 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1443C>G (p.Asn481Lys) SNV Uncertain significance 850536 6:52343999-52343999 6:52479201-52479201 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1607G>A (p.Arg536Gln) SNV Uncertain significance 838176 6:52344552-52344552 6:52479754-52479754 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1639A>G (p.Ser547Gly) SNV Uncertain significance 862136 6:52344584-52344584 6:52479786-52479786 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1835A>C (p.Asp612Ala) SNV Uncertain significance 853670 6:52355132-52355132 6:52490334-52490334 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.723+10A>G SNV Uncertain significance 840745 6:52317645-52317645 6:52452847-52452847 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1892A>G (p.Tyr631Cys) SNV Uncertain significance 205417 rs574948354 6:52357108-52357108 6:52492310-52492310 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.647G>A (p.Arg216Gln) SNV Uncertain significance 210911 rs77682973 6:52317559-52317559 6:52452761-52452761 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1765G>A (p.Glu589Lys) SNV Uncertain significance 205415 rs201197637 6:52355062-52355062 6:52490264-52490264 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1144C>T (p.Pro382Ser) SNV Uncertain significance 205405 rs566874147 6:52334137-52334137 6:52469339-52469339 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1370G>T (p.Arg457Leu) SNV Uncertain significance 205404 rs369468811 6:52343926-52343926 6:52479128-52479128 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1451A>G (p.Tyr484Cys) SNV Uncertain significance 205410 rs201261630 6:52344007-52344007 6:52479209-52479209 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1547T>C (p.Met516Thr) SNV Uncertain significance 205413 rs372520849 6:52344492-52344492 6:52479694-52479694 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.817G>T (p.Val273Leu) SNV Uncertain significance 205391 rs369926953 6:52318986-52318986 6:52454188-52454188 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.911A>G (p.Asn304Ser) SNV Uncertain significance 205393 rs142107827 6:52319080-52319080 6:52454282-52454282 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.731G>A (p.Arg244Gln) SNV Uncertain significance 205388 rs140476054 6:52318900-52318900 6:52454102-52454102 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.266A>G (p.His89Arg) SNV Uncertain significance 205421 rs543160745 6:52288946-52288946 6:52424148-52424148 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.344A>G (p.Tyr115Cys) SNV Uncertain significance 205381 rs371610025 6:52303160-52303160 6:52438362-52438362 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.68C>T (p.Thr23Ile) SNV Uncertain significance 205394 rs779993809 6:52288748-52288748 6:52423950-52423950 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.916A>G (p.Lys306Glu) SNV Uncertain significance 197833 rs201263733 6:52319085-52319085 6:52454287-52454287 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1306C>T (p.Arg436Cys) SNV Uncertain significance 198888 rs377286138 6:52343862-52343862 6:52479064-52479064 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1385T>C (p.Ile462Thr) SNV Uncertain significance 128963 rs200116252 6:52343941-52343941 6:52479143-52479143 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1365T>C (p.Pro455=) SNV Uncertain significance 830045 6:52343921-52343921 6:52479123-52479123 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NC_000006.12:g.(?_52423789)_(52492432_?)del deletion Uncertain significance 832614 6:52288587-52357230 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NC_000006.12:g.(?_52479017)_(52492432_?)del deletion Uncertain significance 833385 6:52343815-52357230 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*957C>T SNV Uncertain significance 357500 rs761411516 6:52358096-52358096 6:52493298-52493298 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*1024C>T SNV Uncertain significance 357507 rs372975445 6:52358163-52358163 6:52493365-52493365 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*1576C>A SNV Uncertain significance 357516 rs547537212 6:52358715-52358715 6:52493917-52493917 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*2023T>C SNV Uncertain significance 357520 rs886061638 6:52359162-52359162 6:52494364-52494364 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*2430C>T SNV Uncertain significance 357524 rs749445189 6:52359569-52359569 6:52494771-52494771 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*1025_*1026AT[13] short repeat Uncertain significance 357502 rs59794069 6:52358163-52358164 6:52493365-52493366 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*3192G>A SNV Likely benign 357528 rs3789771 6:52360331-52360331 6:52495533-52495533 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.-70G>A SNV Likely benign 369311 rs183873853 2:152955595-152955595 2:152099081-152099081 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1584C>T (p.Leu528=) SNV Likely benign 377826 rs774640110 6:52344529-52344529 6:52479731-52479731 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.160T>C (p.Phe54Leu) SNV Likely benign 833553 6:52288840-52288840 6:52424042-52424042 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.838G>A (p.Glu280Lys) SNV Likely benign 833658 6:52319007-52319007 6:52454209-52454209 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1667T>C (p.Val556Ala) SNV Likely benign 833745 6:52354964-52354964 6:52490166-52490166 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1851+8T>A SNV Likely benign 833619 6:52355156-52355156 6:52490358-52490358 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1836C>T (p.Asp612=) SNV Likely benign 720625 6:52355133-52355133 6:52490335-52490335 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1641-8C>A SNV Likely benign 772329 6:52354930-52354930 6:52490132-52490132 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.249G>A (p.Ala83=) SNV Likely benign 698752 6:52288929-52288929 6:52424131-52424131 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.681A>G (p.Ser227=) SNV Likely benign 702150 6:52317593-52317593 6:52452795-52452795 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1523C>G (p.Thr508Arg) SNV Likely benign 698385 6:52344468-52344468 6:52479670-52479670 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.451C>T (p.Arg151Cys) SNV Likely benign 702655 6:52303267-52303267 6:52438469-52438469 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.54G>T (p.Lys18Asn) SNV Likely benign 645721 6:52285262-52285262 6:52420464-52420464 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1665C>T (p.Gly555=) SNV Likely benign 534103 rs369201702 6:52354962-52354962 6:52490164-52490164 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1059G>A (p.Arg353=) SNV Likely benign 534113 rs200024100 6:52329835-52329835 6:52465037-52465037 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1293A>C (p.Pro431=) SNV Likely benign 534112 rs1554261597 6:52343849-52343849 6:52479051-52479051 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1279-9C>T SNV Likely benign 534111 rs143254681 6:52343826-52343826 6:52479028-52479028 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1047A>G (p.Pro349=) SNV Likely benign 465662 rs1163603161 6:52329823-52329823 6:52465025-52465025 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1815G>A (p.Ser605=) SNV Likely benign 465664 rs1045298708 6:52355112-52355112 6:52490314-52490314 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1866C>T (p.Cys622=) SNV Likely benign 465665 rs1554262324 6:52357082-52357082 6:52492284-52492284 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*1459T>C SNV Likely benign 331607 rs114958916 2:152694174-152694174 2:151837660-151837660 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*787del deletion Likely benign 331617 rs560958457 2:152694846-152694846 2:151838332-151838332 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*1910_*1911del deletion Likely benign 331596 rs372743707 2:152693722-152693723 2:151837208-151837209 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.3(EFHC1):c.-195A>G SNV Likely benign 357475 rs2296196 6:52285014-52285014 6:52420216-52420216 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.177G>A (p.Pro59=) SNV Likely benign 331635 rs552093496 2:152739855-152739855 2:151883341-151883341 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*2419A>G SNV Likely benign 357523 rs9474228 6:52359558-52359558 6:52494760-52494760 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*2164G>A SNV Likely benign 357521 rs59722297 6:52359303-52359303 6:52494505-52494505 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*1490C>A SNV Likely benign 357515 rs2397092 6:52358629-52358629 6:52493831-52493831 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*233T>A SNV Likely benign 357492 rs538486876 6:52357372-52357372 6:52492574-52492574 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*1025_*1026AT[9] short repeat Likely benign 357508 rs59794069 6:52358164-52358165 6:52493366-52493367 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*1325dup duplication Likely benign 357513 rs35994917 6:52358453-52358454 6:52493655-52493656 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*3406T>C SNV Likely benign 357529 rs6919266 6:52360545-52360545 6:52495747-52495747 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*881A>T SNV Likely benign 357498 rs6926242 6:52358020-52358020 6:52493222-52493222 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.3(EFHC1):c.-146_-145delGC short repeat Likely benign 357477 rs796720054 6:52285061-52285062 6:52420263-52420264 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*392A>C SNV Likely benign 357493 rs9463792 6:52357531-52357531 6:52492733-52492733 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*2972C>G SNV Likely benign 357526 rs9367485 6:52360111-52360111 6:52495313-52495313 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*3144T>A SNV Likely benign 357527 rs3789772 6:52360283-52360283 6:52495485-52495485 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*871C>G SNV Likely benign 357497 rs78956562 6:52358010-52358010 6:52493212-52493212 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.521+9C>T SNV Benign/Likely benign 331632 rs747291810 2:152732931-152732931 2:151876417-151876417 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*1909C>T SNV Benign/Likely benign 331597 rs113319414 2:152693724-152693724 2:151837210-151837210 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*1656T>C SNV Benign/Likely benign 331602 rs62174451 2:152693977-152693977 2:151837463-151837463 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*1093T>C SNV Benign/Likely benign 331612 rs142139235 2:152694540-152694540 2:151838026-151838026 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*1009C>T SNV Benign/Likely benign 331613 rs367723727 2:152694624-152694624 2:151838110-151838110 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*865G>A SNV Benign/Likely benign 331615 rs75365487 2:152694768-152694768 2:151838254-151838254 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*2695G>T SNV Benign/Likely benign 331585 rs74894311 2:152692938-152692938 2:151836424-151836424 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*1942T>C SNV Benign/Likely benign 331593 rs139629003 2:152693691-152693691 2:151837177-151837177 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*4773A>G SNV Benign/Likely benign 331567 rs113408437 2:152690860-152690860 2:151834346-151834346 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*528A>T SNV Benign/Likely benign 331622 rs111999910 2:152695105-152695105 2:151838591-151838591 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*6140G>T SNV Benign/Likely benign 331548 rs74944346 2:152689493-152689493 2:151832979-151832979 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*4771G>A SNV Benign/Likely benign 331568 rs80248494 2:152690862-152690862 2:151834348-151834348 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*4570T>C SNV Benign/Likely benign 331569 rs549017506 2:152691063-152691063 2:151834549-151834549 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*4969G>A SNV Benign/Likely benign 331564 rs537140595 2:152690664-152690664 2:151834150-151834150 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*5372T>C SNV Benign/Likely benign 331559 rs150406641 2:152690261-152690261 2:151833747-151833747 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*2885T>C SNV Benign/Likely benign 331581 rs116457978 2:152692748-152692748 2:151836234-151836234 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*5855A>C SNV Benign/Likely benign 331552 rs118093432 2:152689778-152689778 2:151833264-151833264 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*1284T>G SNV Benign/Likely benign 331608 rs112989362 2:152694349-152694349 2:151837835-151837835 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*2210A>G SNV Benign/Likely benign 331588 rs114341631 2:152693423-152693423 2:151836909-151836909 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*2163G>A SNV Benign/Likely benign 331591 rs80306085 2:152693470-152693470 2:151836956-151836956 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*443A>G SNV Benign/Likely benign 331626 rs538829019 2:152695190-152695190 2:151838676-151838676 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*5622C>T SNV Benign/Likely benign 331553 rs187012852 2:152690011-152690011 2:151833497-151833497 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*5562A>G SNV Benign/Likely benign 331554 rs192309143 2:152690071-152690071 2:151833557-151833557 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*4976T>C SNV Benign/Likely benign 331563 rs191424720 2:152690657-152690657 2:151834143-151834143 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*1814G>A SNV Benign/Likely benign 331599 rs181447432 2:152693819-152693819 2:151837305-151837305 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*2837A>G SNV Benign/Likely benign 331582 rs138327808 2:152692796-152692796 2:151836282-151836282 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*2778A>C SNV Benign/Likely benign 331583 rs114659375 2:152692855-152692855 2:151836341-151836341 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*2729G>A SNV Benign/Likely benign 331584 rs144329745 2:152692904-152692904 2:151836390-151836390 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*2391T>G SNV Benign/Likely benign 331587 rs143821304 2:152693242-152693242 2:151836728-151836728 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.599-15G>A SNV Benign/Likely benign 136651 rs41270209 2:152727390-152727390 2:151870876-151870876 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.1413G>A (p.Arg471=) SNV Benign/Likely benign 136655 rs1805029 2:152695783-152695783 2:151839269-151839269 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1855A>C (p.Ile619Leu) SNV Benign/Likely benign 128966 rs17851770 6:52357071-52357071 6:52492273-52492273 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.25T>C (p.Leu9=) SNV Benign/Likely benign 128967 rs149315015 6:52285233-52285233 6:52420435-52420435 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp) SNV Benign/Likely benign 128968 rs3804506 6:52303291-52303291 6:52438493-52438493 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.573+10A>G SNV Benign/Likely benign 128969 rs9349626 6:52303399-52303399 6:52438601-52438601 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr) SNV Benign/Likely benign 128962 rs1266787 6:52343899-52343899 6:52479101-52479101 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1155C>T (p.Asn385=) SNV Benign/Likely benign 128960 rs115913738 6:52334148-52334148 6:52469350-52469350 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.1303-3T>C SNV Benign/Likely benign 128562 rs143442080 2:152695896-152695896 2:151839382-151839382 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1069G>A (p.Glu357Lys) SNV Benign/Likely benign 137195 rs505760 6:52329845-52329845 6:52465047-52465047 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*4T>C SNV Benign/Likely benign 194343 rs556761275 2:152695629-152695629 2:151839115-151839115 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.475C>G (p.Arg159Gly) SNV Benign/Likely benign 196484 rs3804506 6:52303291-52303291 6:52438493-52438493 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1338C>T (p.Thr446=) SNV Benign/Likely benign 377825 rs546464826 6:52343894-52343894 6:52479096-52479096 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.210A>G (p.Pro70=) SNV Benign 137194 rs145367062 6:52288890-52288890 6:52424092-52424092 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1893C>T (p.Tyr631=) SNV Benign 137197 rs35648306 6:52357109-52357109 6:52492311-52492311 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.762T>A (p.Ile254=) SNV Benign 128563 rs61736804 2:152717331-152717331 2:151860817-151860817 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1224C>T (p.Asp408=) SNV Benign 128961 rs116134831 6:52334217-52334217 6:52469419-52469419 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.881G>A (p.Arg294His) SNV Benign 128970 rs1570624 6:52319050-52319050 6:52454252-52454252 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.-25G>T SNV Benign 136656 rs143675846 2:152955550-152955550 2:152099036-152099036 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.1239G>A (p.Leu413=) SNV Benign 128561 rs1805028 2:152698480-152698480 2:151841966-151841966 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1821C>T (p.Asn607=) SNV Benign 784780 6:52355118-52355118 6:52490320-52490320 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.545G>A (p.Arg182His) SNV Benign 2063 rs3804505 6:52303361-52303361 6:52438563-52438563 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*3157T>A SNV Benign 331579 rs10497086 2:152692476-152692476 2:151835962-151835962 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*624del deletion Benign 331619 rs11291336 2:152695009-152695009 2:151838495-151838495 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.1820A>G (p.Asn607Ser) SNV Benign 287376 rs115475262 6:52355117-52355117 6:52490319-52490319 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*5385C>T SNV Benign 331558 rs1568673 2:152690248-152690248 2:151833734-151833734 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*5029T>C SNV Benign 331561 rs16830412 2:152690604-152690604 2:151834090-151834090 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*2188del deletion Benign 331589 rs75297236 2:152693445-152693445 2:151836931-151836931 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*1186G>T SNV Benign 331609 rs72868010 2:152694447-152694447 2:151837933-151837933 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*890G>C SNV Benign 331614 rs78697588 2:152694743-152694743 2:151838229-151838229 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*442G>A SNV Benign 331627 rs7597215 2:152695191-152695191 2:151838677-151838677 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*1185T>C SNV Benign 331610 rs13410490 2:152694448-152694448 2:151837934-151837934 EPL198 Epilepsy, Myoclonic Juvenile CACNB4 NM_000726.4(CACNB4):c.*3804G>C SNV Benign 331574 rs2344734 2:152691829-152691829 2:151835315-151835315 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*121C>A SNV Benign 357489 rs7757370 6:52357260-52357260 6:52492462-52492462 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*1749_*1750insAC insertion Benign 357517 rs58779695 6:52358887-52358888 6:52494089-52494090 EPL198 Epilepsy, Myoclonic Juvenile EFHC1 NM_018100.4(EFHC1):c.*1180G>A SNV Benign 357512 rs4455668 6:52358319-52358319 6:52493521-52493521 EPL198 Epilepsy, Myoclonic Juvenile SLC25A12 NM_003705.5(SLC25A12):c.1058G>A (p.Arg353Gln) SNV Pathogenic 253136 rs886037851 2:172669962-172669962 2:171813452-171813452 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 GRCh37/hg19 2q31.1(chr2:172644081-172644457) copy number loss Pathogenic 813326 2:172644081-172644457 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.1769A>G (p.Gln590Arg) SNV Pathogenic 6148 rs121434396 2:172644147-172644147 2:171787637-171787637 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.1618G>A (p.Asp540Asn) SNV Likely pathogenic 488597 rs1553469156 2:172644425-172644425 2:171787915-171787915 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.326-2A>C SNV Likely pathogenic 804390 2:172701020-172701020 2:171844510-171844510 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.1654G>A (p.Ala552Thr) SNV Conflicting interpretations of pathogenicity 546880 rs142912356 2:172644389-172644389 2:171787879-171787879 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.728G>A (p.Arg243Lys) SNV Conflicting interpretations of pathogenicity 239551 rs35881803 2:172691260-172691260 2:171834750-171834750 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.1665G>A (p.Thr555=) SNV Conflicting interpretations of pathogenicity 332336 rs145746525 2:172644378-172644378 2:171787868-171787868 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.1338A>C (p.Pro446=) SNV Conflicting interpretations of pathogenicity 332340 rs149278617 2:172650245-172650245 2:171793735-171793735 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.1458G>A (p.Ala486=) SNV Conflicting interpretations of pathogenicity 332338 rs142179562 2:172648088-172648088 2:171791578-171791578 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.1418G>A (p.Arg473Gln) SNV Conflicting interpretations of pathogenicity 332339 rs35565687 2:172650165-172650165 2:171793655-171793655 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.957C>A (p.Ile319=) SNV Conflicting interpretations of pathogenicity 332341 rs372453718 2:172671686-172671686 2:171815176-171815176 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.737T>C (p.Val246Ala) SNV Uncertain significance 332342 rs755954046 2:172691251-172691251 2:171834741-171834741 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.659A>G (p.Asn220Ser) SNV Uncertain significance 332343 rs886055124 2:172691329-172691329 2:171834819-171834819 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.4(SLC25A12):c.-55C>T SNV Uncertain significance 332349 rs886055126 2:172750779-172750779 2:171894269-171894269 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.4(SLC25A12):c.-57_-56dupGC short repeat Uncertain significance 332350 rs759200327 2:172750779-172750780 2:171894269-171894270 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.*994C>T SNV Uncertain significance 332325 rs189758490 2:172640790-172640790 2:171784280-171784280 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.*988C>T SNV Uncertain significance 332326 rs138037221 2:172640796-172640796 2:171784286-171784286 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.*124G>A SNV Uncertain significance 332332 rs13035825 2:172641660-172641660 2:171785150-171785150 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.1468C>T (p.Arg490Ter) SNV Uncertain significance 332337 rs762189046 2:172648078-172648078 2:171791568-171791568 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.189A>G (p.Val63=) SNV Uncertain significance 332345 rs756682372 2:172725211-172725211 2:171868701-171868701 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.4G>A (p.Ala2Thr) SNV Uncertain significance 332348 rs886055125 2:172750721-172750721 2:171894211-171894211 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.*1553T>C SNV Uncertain significance 332319 rs886055120 2:172640231-172640231 2:171783721-171783721 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.*965A>G SNV Uncertain significance 332327 rs576061664 2:172640819-172640819 2:171784309-171784309 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.*754C>A SNV Uncertain significance 332328 rs886055123 2:172641030-172641030 2:171784520-171784520 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.*165C>T SNV Uncertain significance 332331 rs113403751 2:172641619-172641619 2:171785109-171785109 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.1934C>T (p.Thr645Met) SNV Uncertain significance 332334 rs747419483 2:172641887-172641887 2:171785377-171785377 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.13G>A (p.Val5Met) SNV Uncertain significance 332347 rs201557997 2:172749768-172749768 2:171893258-171893258 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.*1251A>G SNV Uncertain significance 332321 rs886055121 2:172640533-172640533 2:171784023-171784023 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.*694G>C SNV Uncertain significance 332330 rs113965617 2:172641090-172641090 2:171784580-171784580 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.*72T>A SNV Uncertain significance 332333 rs779748917 2:172641712-172641712 2:171785202-171785202 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.1909G>A (p.Gly637Ser) SNV Uncertain significance 332335 rs772668725 2:172641912-172641912 2:171785402-171785402 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.67-6T>A SNV Uncertain significance 626170 rs1302626614 2:172725339-172725339 2:171868829-171868829 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.*1281G>A SNV Uncertain significance 332320 rs746811339 2:172640503-172640503 2:171783993-171783993 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.*995G>A SNV Uncertain significance 332324 rs886055122 2:172640789-172640789 2:171784279-171784279 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.*739G>C SNV Likely benign 332329 rs11757 2:172641045-172641045 2:171784535-171784535 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.*1161T>C SNV Likely benign 332322 rs10497374 2:172640623-172640623 2:171784113-171784113 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.*1050G>A SNV Likely benign 332323 rs17499544 2:172640734-172640734 2:171784224-171784224 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.466-3C>T SNV Likely benign 332344 rs3765166 2:172693780-172693780 2:171837270-171837270 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.99T>C (p.Tyr33=) SNV Benign 332346 rs1878583 2:172725301-172725301 2:171868791-171868791 EPL185 Epileptic Encephalopathy, Early Infantile, 39 SLC25A12 NM_003705.5(SLC25A12):c.125G>A (p.Arg42His) SNV not provided 585055 rs143779282 2:172725275-172725275 2:171868765-171868765 EPL185 Epileptic Encephalopathy, Early Infantile, 39 GOT2 NM_002080.4(GOT2):c.1097G>T (p.Gly366Val) SNV Likely pathogenic 691281 16:58743394-58743394 16:58709490-58709490 EPL249 Epileptic Encephalopathy, Early Infantile, 82 GOT2 NM_002080.4(GOT2):c.1009C>G (p.Arg337Gly) SNV Likely pathogenic 691279 rs1247507359 16:58749928-58749928 16:58716024-58716024 EPL249 Epileptic Encephalopathy, Early Infantile, 82 GOT2 NM_002080.4(GOT2):c.784C>G (p.Arg262Gly) SNV Likely pathogenic 691280 16:58750636-58750636 16:58716732-58716732 EPL249 Epileptic Encephalopathy, Early Infantile, 82 GOT2 NM_002080.4(GOT2):c.618_620TCT[2] (p.Leu209del) short repeat Likely pathogenic 691278 rs1473654961 16:58752176-58752178 16:58718272-58718274 EPL249 Epileptic Encephalopathy, Early Infantile, 82 TANGO2 NC_000022.11:g.20042177_20075233del deletion Pathogenic 812930 22:20029700-20062756 EPS003 Episodic Ataxia SCN2A NM_001040142.2(SCN2A):c.2960G>T (p.Ser987Ile) SNV Pathogenic/Likely pathogenic 206978 rs796053124 2:166210742-166210742 2:165354232-165354232 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*1469G>A SNV Conflicting interpretations of pathogenicity 309170 rs536746031 12:5023501-5023501 12:4914335-4914335 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.1464G>A (p.Lys488=) SNV Conflicting interpretations of pathogenicity 309148 rs147828649 12:5022008-5022008 12:4912842-4912842 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*2245C>G SNV Conflicting interpretations of pathogenicity 309183 rs76258625 12:5024277-5024277 12:4915111-4915111 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*5212C>T SNV Conflicting interpretations of pathogenicity 309227 rs139521962 12:5027244-5027244 12:4918078-4918078 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*1308C>T SNV Conflicting interpretations of pathogenicity 309167 rs575443810 12:5023340-5023340 12:4914174-4914174 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*2987G>A SNV Conflicting interpretations of pathogenicity 309195 rs547570693 12:5025019-5025019 12:4915853-4915853 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*3588T>C SNV Conflicting interpretations of pathogenicity 309204 rs535813845 12:5025620-5025620 12:4916454-4916454 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.-157T>A SNV Conflicting interpretations of pathogenicity 309139 rs534276633 12:5020388-5020388 12:4911222-4911222 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*4957C>A SNV Conflicting interpretations of pathogenicity 309219 rs549454829 12:5026989-5026989 12:4917823-4917823 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*5136A>G SNV Uncertain significance 309222 rs886049540 12:5027168-5027168 12:4918002-4918002 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.303C>T (p.Arg101=) SNV Uncertain significance 309143 rs886049509 12:5020847-5020847 12:4911681-4911681 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.-684G>T SNV Uncertain significance 309130 rs886049502 12:5019494-5019494 12:4910328-4910328 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.-487A>G SNV Uncertain significance 309132 rs886049504 12:5020058-5020058 12:4910892-4910892 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*2554C>T SNV Uncertain significance 309190 rs768068963 12:5024586-5024586 12:4915420-4915420 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*3495G>C SNV Uncertain significance 309202 rs886049530 12:5025527-5025527 12:4916361-4916361 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*4177C>T SNV Uncertain significance 309208 rs886049532 12:5026209-5026209 12:4917043-4917043 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*4236C>T SNV Uncertain significance 309210 rs886049533 12:5026268-5026268 12:4917102-4917102 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*2000C>T SNV Uncertain significance 309178 rs886049522 12:5024032-5024032 12:4914866-4914866 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*4903C>G SNV Uncertain significance 309217 rs760686126 12:5026935-5026935 12:4917769-4917769 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*1504G>A SNV Uncertain significance 309171 rs770664473 12:5023536-5023536 12:4914370-4914370 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*804C>A SNV Uncertain significance 309161 rs886049517 12:5022836-5022836 12:4913670-4913670 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*829A>G SNV Uncertain significance 309162 rs777685914 12:5022861-5022861 12:4913695-4913695 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.-27C>T SNV Uncertain significance 309142 rs886049508 12:5020518-5020518 12:4911352-4911352 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.1364T>A (p.Met455Lys) SNV Uncertain significance 309147 rs886049512 12:5021908-5021908 12:4912742-4912742 EPS003 Episodic Ataxia SLC1A3 NM_004172.5(SLC1A3):c.*313dup duplication Uncertain significance 353332 rs886060544 5:36686677-36686678 5:36686575-36686576 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.-968C>T SNV Uncertain significance 309125 rs886049500 12:5019210-5019210 12:4910044-4910044 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.-300_-298ACA[3] short repeat Uncertain significance 309136 rs886049506 12:5020244-5020246 12:4911078-4911080 EPS003 Episodic Ataxia CACNA1A NM_000068.4(CACNA1A):c.6707A>G (p.Gln2236Arg) SNV Uncertain significance 560369 rs936533797 19:13319661-13319661 19:13208847-13208847 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*3185del deletion Uncertain significance 309198 rs886049526 12:5025217-5025217 12:4916051-4916051 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*4303A>T SNV Uncertain significance 309212 rs886049535 12:5026335-5026335 12:4917169-4917169 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*234A>T SNV Uncertain significance 309153 rs886049514 12:5022266-5022266 12:4913100-4913100 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*486G>C SNV Uncertain significance 309155 rs764863360 12:5022518-5022518 12:4913352-4913352 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*511A>G SNV Uncertain significance 309156 rs886049515 12:5022543-5022543 12:4913377-4913377 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*724G>A SNV Uncertain significance 309159 rs886049516 12:5022756-5022756 12:4913590-4913590 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*965A>T SNV Uncertain significance 309165 rs886049518 12:5022997-5022997 12:4913831-4913831 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*1444_*1447CAAA[4] short repeat Uncertain significance 309169 rs138257860 12:5023476-5023479 12:4914310-4914313 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*2278dup duplication Uncertain significance 309184 rs397724146 12:5024303-5024304 12:4915137-4915138 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*2758G>A SNV Uncertain significance 309194 rs886049525 12:5024790-5024790 12:4915624-4915624 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*4152A>G SNV Uncertain significance 309207 rs886049531 12:5026184-5026184 12:4917018-4917018 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*5139dup duplication Uncertain significance 309221 rs753752185 12:5027165-5027166 12:4917999-4918000 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.-1034C>T SNV Uncertain significance 309124 rs886049499 12:5019144-5019144 12:4909978-4909978 EPS003 Episodic Ataxia CACNB4 NM_000726.4(CACNB4):c.*151dup duplication Uncertain significance 331628 rs79470866 2:152695481-152695482 2:151838967-151838968 EPS003 Episodic Ataxia SLC1A3 NM_004172.5(SLC1A3):c.*617dup duplication Uncertain significance 353339 rs886060546 5:36686984-36686985 5:36686882-36686883 EPS003 Episodic Ataxia SLC1A3 NM_001166696.2(SLC1A3):c.-280C>T SNV Uncertain significance 353305 rs886060542 5:36606653-36606653 5:36606551-36606551 EPS003 Episodic Ataxia SLC1A3 NM_004172.5(SLC1A3):c.*174del deletion Uncertain significance 353329 rs538321546 5:36686545-36686545 5:36686443-36686443 EPS003 Episodic Ataxia CACNB4 NM_000726.4(CACNB4):c.*1520del deletion Uncertain significance 331604 rs374745796 2:152694113-152694113 2:151837599-151837599 EPS003 Episodic Ataxia CACNB4 NM_000726.4(CACNB4):c.*1501dup duplication Uncertain significance 331605 rs886054963 2:152694131-152694132 2:151837617-151837618 EPS003 Episodic Ataxia CACNB4 NM_000726.4(CACNB4):c.*5122C>T SNV Uncertain significance 331560 rs187940787 2:152690511-152690511 2:151833997-151833997 EPS003 Episodic Ataxia CACNB4 NM_000726.4(CACNB4):c.*454del deletion Uncertain significance 331624 rs879114509 2:152695179-152695179 2:151838665-151838665 EPS003 Episodic Ataxia CACNB4 NM_000726.4(CACNB4):c.*442_*443del deletion Uncertain significance 331625 rs886054966 2:152695190-152695191 2:151838676-151838677 EPS003 Episodic Ataxia CACNB4 NM_000726.4(CACNB4):c.*151del deletion Uncertain significance 331629 rs79470866 2:152695482-152695482 2:151838968-151838968 EPS003 Episodic Ataxia CACNB4 NM_000726.4(CACNB4):c.-57G>T SNV Uncertain significance 331637 rs886054971 2:152955582-152955582 2:152099068-152099068 EPS003 Episodic Ataxia CACNB4 NM_000726.4(CACNB4):c.*1501del deletion Uncertain significance 331606 rs886054963 2:152694132-152694132 2:151837618-151837618 EPS003 Episodic Ataxia CACNB4 NM_000726.4(CACNB4):c.*454dup duplication Uncertain significance 331623 rs879114509 2:152695178-152695179 2:151838664-151838665 EPS003 Episodic Ataxia CACNB4 NM_000726.4(CACNB4):c.1278T>C (p.Tyr426=) SNV Uncertain significance 331630 rs376015337 2:152698441-152698441 2:151841927-151841927 EPS003 Episodic Ataxia CACNB4 NM_000726.4(CACNB4):c.*5995dup duplication Uncertain significance 331549 rs886054949 2:152689637-152689638 2:151833123-151833124 EPS003 Episodic Ataxia CACNB4 NM_000726.4(CACNB4):c.*1910_*1911del deletion Likely benign 331596 rs372743707 2:152693722-152693723 2:151837208-151837209 EPS003 Episodic Ataxia CACNB4 NM_000726.4(CACNB4):c.*787del deletion Likely benign 331617 rs560958457 2:152694846-152694846 2:151838332-151838332 EPS003 Episodic Ataxia SLC1A3 NM_001166696.2(SLC1A3):c.-449C>T SNV Likely benign 353304 rs148448836 5:36606484-36606484 5:36606382-36606382 EPS003 Episodic Ataxia SLC1A3 NM_004172.5(SLC1A3):c.*1282T>C SNV Likely benign 353350 rs552989102 5:36687653-36687653 5:36687551-36687551 EPS003 Episodic Ataxia SLC1A3 NM_004172.5(SLC1A3):c.*552_*553del deletion Likely benign 353337 rs147871333 5:36686922-36686923 5:36686820-36686821 EPS003 Episodic Ataxia CACNB4 NM_000726.4(CACNB4):c.177G>A (p.Pro59=) SNV Likely benign 331635 rs552093496 2:152739855-152739855 2:151883341-151883341 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.-865_-864AG[2] short repeat Likely benign 309127 rs566173456 12:5019312-5019313 12:4910146-4910147 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.-478dup duplication Likely benign 309133 rs34346629 12:5020061-5020062 12:4910895-4910896 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*1444_*1447CAAA[6] short repeat Likely benign 309168 rs138257860 12:5023475-5023476 12:4914309-4914310 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*923T>C SNV Likely benign 309164 rs142134789 12:5022955-5022955 12:4913789-4913789 EPS003 Episodic Ataxia CACNB4 NM_000726.4(CACNB4):c.-70G>A SNV Likely benign 369311 rs183873853 2:152955595-152955595 2:152099081-152099081 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*1522C>G SNV Benign/Likely benign 309172 rs140297443 12:5023554-5023554 12:4914388-4914388 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*2174C>T SNV Benign/Likely benign 309182 rs73050551 12:5024206-5024206 12:4915040-4915040 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*2596A>T SNV Benign/Likely benign 309191 rs188377239 12:5024628-5024628 12:4915462-4915462 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*4635G>C SNV Benign/Likely benign 309214 rs1045892 12:5026667-5026667 12:4917501-4917501 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.-428C>T SNV Benign/Likely benign 309135 rs7307690 12:5020117-5020117 12:4910951-4910951 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*5209C>T SNV Benign/Likely benign 309226 rs189939908 12:5027241-5027241 12:4918075-4918075 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.1125C>T (p.Tyr375=) SNV Benign/Likely benign 309146 rs144351014 12:5021669-5021669 12:4912503-4912503 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*786G>A SNV Benign/Likely benign 309160 rs148607588 12:5022818-5022818 12:4913652-4913652 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.-134G>T SNV Benign/Likely benign 309140 rs12817318 12:5020411-5020411 12:4911245-4911245 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*2005G>A SNV Benign/Likely benign 309179 rs76783799 12:5024037-5024037 12:4914871-4914871 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*2123A>G SNV Benign/Likely benign 309181 rs77647135 12:5024155-5024155 12:4914989-4914989 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*2727C>T SNV Benign/Likely benign 309193 rs113371270 12:5024759-5024759 12:4915593-4915593 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*517T>C SNV Benign/Likely benign 309157 rs140164407 12:5022549-5022549 12:4913383-4913383 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*1577A>T SNV Benign/Likely benign 309174 rs79432803 12:5023609-5023609 12:4914443-4914443 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*2080G>A SNV Benign/Likely benign 309180 rs147644839 12:5024112-5024112 12:4914946-4914946 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*3724C>T SNV Benign/Likely benign 309205 rs73050554 12:5025756-5025756 12:4916590-4916590 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*4234A>G SNV Benign/Likely benign 309209 rs61907267 12:5026266-5026266 12:4917100-4917100 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*5141G>A SNV Benign 309223 rs41482147 12:5027173-5027173 12:4918007-4918007 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.-731C>G SNV Benign 309129 rs74058081 12:5019447-5019447 12:4910281-4910281 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*4439C>T SNV Benign 309213 rs12424292 12:5026471-5026471 12:4917305-4917305 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*2277_*2278del deletion Benign 309185 rs397724146 12:5024304-5024305 12:4915138-4915139 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*2333G>A SNV Benign 309189 rs2109420 12:5024365-5024365 12:4915199-4915199 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.-110G>A SNV Benign 309141 rs35678382 12:5020435-5020435 12:4911269-4911269 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*228A>C SNV Benign 309152 rs142908193 12:5022260-5022260 12:4913094-4913094 EPS003 Episodic Ataxia SLC1A3 NM_004172.5(SLC1A3):c.*970_*976del deletion Benign 353342 rs35302142 5:36687339-36687345 5:36687237-36687243 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.804G>C (p.Thr268=) SNV Benign 21130 rs2227910 12:5021348-5021348 12:4912182-4912182 EPS003 Episodic Ataxia CACNB4 NM_000726.4(CACNB4):c.*624del deletion Benign 331619 rs11291336 2:152695009-152695009 2:151838495-151838495 EPS003 Episodic Ataxia CACNB4 NM_000726.4(CACNB4):c.*2188del deletion Benign 331589 rs75297236 2:152693445-152693445 2:151836931-151836931 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.-839C>T SNV Benign 309128 rs12303537 12:5019339-5019339 12:4910173-4910173 EPS003 Episodic Ataxia KCNA1 NM_000217.3(KCNA1):c.*5145T>C SNV Benign 309224 rs11063406 12:5027177-5027177 12:4918011-4918011 EPS003 Episodic Ataxia IMPG2 NM_016247.4(IMPG2):c.1680T>A (p.Tyr560Ter) SNV Pathogenic 437938 rs758291149 3:100963495-100963495 3:101244651-101244651 EYD002 Eye Disease CNGB3 NM_019098.4(CNGB3):c.1810C>T (p.Arg604Ter) SNV Pathogenic 438042 rs200805087 8:87591452-87591452 8:86579224-86579224 EYD002 Eye Disease ABCC6 NM_001171.5(ABCC6):c.4104del (p.Asp1368fs) deletion Pathogenic 433350 rs72664237 16:16248589-16248589 16:16154732-16154732 EYD002 Eye Disease RDH12 NM_152443.3(RDH12):c.806_810del (p.Ala269fs) deletion Pathogenic 2047 rs386834261 14:68196054-68196058 14:67729337-67729341 EYD002 Eye Disease VPS13B NM_017890.4(VPS13B):c.2591C>A (p.Ser864Ter) SNV Pathogenic 95840 rs140936527 8:100286501-100286501 8:99274273-99274273 EYD002 Eye Disease CNGA3 NM_001298.3(CNGA3):c.1688G>A (p.Arg563His) SNV Pathogenic 265467 rs552069173 2:99013321-99013321 2:98396858-98396858 EYD002 Eye Disease VPS13B NM_017890.4(VPS13B):c.6370_6371del (p.Met2124fs) deletion Pathogenic/Likely pathogenic 242548 rs748404277 8:100712001-100712002 8:99699773-99699774 EYD002 Eye Disease CNGB3 NM_019098.4(CNGB3):c.1285del (p.Ser429fs) deletion Pathogenic/Likely pathogenic 427658 rs776896038 8:87645015-87645015 8:86632787-86632787 EYD002 Eye Disease ABCC6 NM_001171.5(ABCC6):c.3389C>T (p.Thr1130Met) SNV Pathogenic/Likely pathogenic 6569 rs63750459 16:16256967-16256967 16:16163110-16163110 EYD002 Eye Disease GNAT2 NM_005272.4(GNAT2):c.906C>A (p.Tyr302Ter) SNV Likely pathogenic 438058 rs1553226355 1:110146135-110146135 1:109603513-109603513 EYD002 Eye Disease CNGA3 NM_001298.3(CNGA3):c.107_110del (p.His36fs) deletion Likely pathogenic 438155 rs749036398 2:98994154-98994157 2:98377691-98377694 EYD002 Eye Disease RBP4 NM_006744.4(RBP4):c.248+1G>A SNV Likely pathogenic 438114 rs111785373 10:95360423-95360423 10:93600666-93600666 EYD002 Eye Disease TYR NM_000372.5(TYR):c.1037G>T (p.Gly346Val) SNV Likely pathogenic 437986 rs773970123 11:88960991-88960991 11:89227823-89227823 EYD002 Eye Disease RPGRIP1 NM_020366.3(RPGRIP1):c.2398G>A (p.Glu800Lys) SNV Likely pathogenic 438161 rs565837539 14:21794020-21794020 14:21325861-21325861 EYD002 Eye Disease NR2E3 NM_014249.4(NR2E3):c.305C>A (p.Ala102Asp) SNV Likely pathogenic 438227 rs772881093 15:72104165-72104165 15:71811825-71811825 EYD002 Eye Disease NYX NM_022567.2(NYX):c.936C>G (p.Asn312Lys) SNV Likely pathogenic 438056 rs1555967263 X:41333642-41333642 X:41474389-41474389 EYD002 Eye Disease RP2 NM_006915.3(RP2):c.43del (p.Ser15fs) deletion Likely pathogenic 437945 rs1556313474 X:46696578-46696578 X:46837143-46837143 EYD002 Eye Disease CACNA1F NM_001256789.3(CACNA1F):c.3595C>T (p.Gln1199Ter) SNV Likely pathogenic 438125 rs782362725 X:49071548-49071548 X:49215088-49215088 EYD002 Eye Disease CHM NM_000390.4(CHM):c.315-1536A>G SNV Likely pathogenic 438064 rs1555955061 X:85220593-85220593 X:85965588-85965588 EYD002 Eye Disease AHI1 NM_001134831.2(AHI1):c.1912+1488_2036+506del deletion Likely pathogenic 438231 6:135759007-135762232 6:135437869-135441094 EYD002 Eye Disease TRPM6 deletion Likely pathogenic 438256 9:77388717-77398576 9:74773801-74783660 EYD002 Eye Disease CNGB3 NM_019098.4(CNGB3):c.1148del (p.Thr383fs) deletion Conflicting interpretations of pathogenicity 5225 rs397515360 8:87656009-87656009 8:86643781-86643781 EYD002 Eye Disease CNGB3 NM_019098.4(CNGB3):c.1208G>A (p.Arg403Gln) SNV Conflicting interpretations of pathogenicity 143154 rs147876778 8:87645092-87645092 8:86632864-86632864 EYD002 Eye Disease CACNA2D4 NM_172364.5(CACNA2D4):c.1882C>T (p.Arg628Ter) SNV Uncertain significance 208566 rs200098356 12:1969369-1969369 12:1860203-1860203 EYD002 Eye Disease VPS13B NM_017890.4(VPS13B):c.3628G>T (p.Asp1210Tyr) SNV Uncertain significance 95847 rs145417421 8:100479824-100479824 8:99467596-99467596 EYD002 Eye Disease P2RX6 GRCh37/hg19 22q11.21(chr22:21081260-21431174) copy number gain Uncertain significance 523275 22:21081260-21431174 EYD002 Eye Disease PI4KA GRCh37/hg19 22q11.21(chr22:21081260-21431174) copy number gain Uncertain significance 523275 22:21081260-21431174 EYD002 Eye Disease SERPIND1 GRCh37/hg19 22q11.21(chr22:21081260-21431174) copy number gain Uncertain significance 523275 22:21081260-21431174 EYD002 Eye Disease SLC7A4 GRCh37/hg19 22q11.21(chr22:21081260-21431174) copy number gain Uncertain significance 523275 22:21081260-21431174 EYD002 Eye Disease SNAP29 GRCh37/hg19 22q11.21(chr22:21081260-21431174) copy number gain Uncertain significance 523275 22:21081260-21431174 EYD002 Eye Disease THAP7 GRCh37/hg19 22q11.21(chr22:21081260-21431174) copy number gain Uncertain significance 523275 22:21081260-21431174 EYD002 Eye Disease AIFM3 GRCh37/hg19 22q11.21(chr22:21081260-21431174) copy number gain Uncertain significance 523275 22:21081260-21431174 EYD002 Eye Disease CRKL GRCh37/hg19 22q11.21(chr22:21081260-21431174) copy number gain Uncertain significance 523275 22:21081260-21431174 EYD002 Eye Disease LZTR1 GRCh37/hg19 22q11.21(chr22:21081260-21431174) copy number gain Uncertain significance 523275 22:21081260-21431174 EYD002 Eye Disease TRHR GRCh37/hg19 8q23.1(chr8:109990022-110168343) copy number loss Uncertain significance 523291 8:109990022-110168343 EYD002 Eye Disease TNFRSF11A NM_003839.4(TNFRSF11A):c.46_63dup (p.Leu16_Leu21dup) duplication Pathogenic 6299 rs879253796 18:59992630-59992631 18:62325397-62325398 FML345 Familial Expansile Osteolysis TNFRSF11A NM_003839.4(TNFRSF11A):c.45_62dup (p.Leu16_Leu21dup) duplication Pathogenic 208143 rs886037749 18:59992620-59992621 18:62325387-62325388 FML345 Familial Expansile Osteolysis TNFRSF11A NM_003839.4(TNFRSF11A):c.718A>G (p.Lys240Glu) SNV Uncertain significance 287370 rs148185533 18:60029014-60029014 18:62361781-62361781 FML345 Familial Expansile Osteolysis SCN9A NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) SNV Conflicting interpretations of pathogenicity 30357 rs200945460 2:167137018-167137018 2:166280508-166280508 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) SNV Conflicting interpretations of pathogenicity 94090 rs4369876 2:167129256-167129256 2:166272746-166272746 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys) SNV Conflicting interpretations of pathogenicity 130260 rs199692186 2:167129258-167129258 2:166272748-166272748 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) SNV Conflicting interpretations of pathogenicity 130265 rs141268327 2:167094638-167094638 2:166238128-166238128 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) SNV Conflicting interpretations of pathogenicity 157597 rs182650126 2:167136962-167136962 2:166280452-166280452 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys) SNV Conflicting interpretations of pathogenicity 193859 rs187453572 2:167142893-167142893 2:166286383-166286383 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=) SNV Conflicting interpretations of pathogenicity 195488 rs144941725 2:167094721-167094721 2:166238211-166238211 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) SNV Conflicting interpretations of pathogenicity 195592 rs180922748 2:167089942-167089942 2:166233432-166233432 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) SNV Conflicting interpretations of pathogenicity 195816 rs188336294 2:167083161-167083161 2:166226651-166226651 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His) SNV Conflicting interpretations of pathogenicity 234820 rs79805025 2:167055438-167055438 2:166198928-166198928 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met) SNV Conflicting interpretations of pathogenicity 254095 rs41268671 2:167134706-167134706 2:166278196-166278196 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=) SNV Conflicting interpretations of pathogenicity 291185 rs200682458 2:167142984-167142984 2:166286474-166286474 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*3102C>T SNV Conflicting interpretations of pathogenicity 331898 rs182687583 2:167052080-167052080 2:166195570-166195570 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=) SNV Conflicting interpretations of pathogenicity 331963 rs187558439 2:167060878-167060878 2:166204368-166204368 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=) SNV Conflicting interpretations of pathogenicity 331984 rs200014315 2:167138313-167138313 2:166281803-166281803 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.213G>A (p.Val71=) SNV Conflicting interpretations of pathogenicity 332000 rs200240989 2:167168054-167168054 2:166311544-166311544 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*3426A>T SNV Conflicting interpretations of pathogenicity 331895 rs186838828 2:167051756-167051756 2:166195246-166195246 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*1014G>A SNV Conflicting interpretations of pathogenicity 331937 rs200393413 2:167054168-167054168 2:166197658-166197658 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*124A>G SNV Conflicting interpretations of pathogenicity 331959 rs201137748 2:167055058-167055058 2:166198548-166198548 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.3368G>A (p.Ser1123Asn) SNV Conflicting interpretations of pathogenicity 331971 rs141040985 2:167108379-167108379 2:166251869-166251869 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.1793G>A (p.Arg598His) SNV Conflicting interpretations of pathogenicity 331986 rs201318927 2:167141144-167141144 2:166284634-166284634 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.1713C>T (p.Ala571=) SNV Conflicting interpretations of pathogenicity 331987 rs200876333 2:167141224-167141224 2:166284714-166284714 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.1619G>A (p.Arg540His) SNV Conflicting interpretations of pathogenicity 331988 rs199748300 2:167141318-167141318 2:166284808-166284808 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.1208T>C (p.Met403Thr) SNV Conflicting interpretations of pathogenicity 331992 rs199986805 2:167145053-167145053 2:166288543-166288543 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.2852T>C (p.Val951Ala) SNV Conflicting interpretations of pathogenicity 331979 rs201890077 2:167133515-167133515 2:166277005-166277005 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*2226T>G SNV Conflicting interpretations of pathogenicity 331915 rs141310425 2:167052956-167052956 2:166196446-166196446 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*785C>T SNV Conflicting interpretations of pathogenicity 331943 rs181229506 2:167054397-167054397 2:166197887-166197887 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.3944T>C (p.Ile1315Thr) SNV Conflicting interpretations of pathogenicity 331965 rs202235611 2:167085463-167085463 2:166228953-166228953 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.2496A>C (p.Ser832=) SNV Conflicting interpretations of pathogenicity 331981 rs200185692 2:167134671-167134671 2:166278161-166278161 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.965+13T>C SNV Conflicting interpretations of pathogenicity 331997 rs772337722 2:167151096-167151096 2:166294586-166294586 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.129T>C (p.Asp43=) SNV Conflicting interpretations of pathogenicity 332001 rs200826539 2:167168138-167168138 2:166311628-166311628 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.-277C>T SNV Conflicting interpretations of pathogenicity 332003 rs201445594 2:167232433-167232433 2:166375923-166375923 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*2228G>T SNV Conflicting interpretations of pathogenicity 331914 rs200790957 2:167052954-167052954 2:166196444-166196444 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*2191G>A SNV Conflicting interpretations of pathogenicity 331918 rs201184093 2:167052991-167052991 2:166196481-166196481 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*2078C>T SNV Conflicting interpretations of pathogenicity 331923 rs548072061 2:167053104-167053104 2:166196594-166196594 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*2344C>T SNV Conflicting interpretations of pathogenicity 331910 rs200962814 2:167052838-167052838 2:166196328-166196328 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*669A>G SNV Conflicting interpretations of pathogenicity 331945 rs538508619 2:167054513-167054513 2:166198003-166198003 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*217G>A SNV Conflicting interpretations of pathogenicity 331954 rs200625860 2:167054965-167054965 2:166198455-166198455 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.3801T>C (p.Asp1267=) SNV Conflicting interpretations of pathogenicity 331967 rs202047865 2:167094604-167094604 2:166238094-166238094 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.3343A>G (p.Ser1115Gly) SNV Conflicting interpretations of pathogenicity 331972 rs201984007 2:167128917-167128917 2:166272407-166272407 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.3020G>A (p.Arg1007His) SNV Conflicting interpretations of pathogenicity 331974 rs188145203 2:167129240-167129240 2:166272730-166272730 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.5379G>A (p.Ala1793=) SNV Conflicting interpretations of pathogenicity 331961 rs201875421 2:167055770-167055770 2:166199260-166199260 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.4503+8_4503+9insT insertion Conflicting interpretations of pathogenicity 331962 rs767624579 2:167060861-167060862 2:166204351-166204352 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.1482G>T (p.Lys494Asn) SNV Conflicting interpretations of pathogenicity 331990 rs777699798 2:167142966-167142966 2:166286456-166286456 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.1347T>C (p.Ser449=) SNV Conflicting interpretations of pathogenicity 331991 rs201990547 2:167143101-167143101 2:166286591-166286591 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.1139T>A (p.Ile380Asn) SNV Conflicting interpretations of pathogenicity 331994 rs188798505 2:167145122-167145122 2:166288612-166288612 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.685C>A (p.Pro229Thr) SNV Conflicting interpretations of pathogenicity 331998 rs755653914 2:167160751-167160751 2:166304241-166304241 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.274A>T (p.Asn92Tyr) SNV Uncertain significance 331999 rs747265095 2:167163569-167163569 2:166307059-166307059 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.1207A>C (p.Met403Leu) SNV Uncertain significance 331993 rs746956041 2:167145054-167145054 2:166288544-166288544 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.4434_4436GAA[1] (p.Lys1480del) short repeat Uncertain significance 331964 rs886055050 2:167060934-167060936 2:166204424-166204426 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*1605T>C SNV Uncertain significance 331931 rs199848927 2:167053577-167053577 2:166197067-166197067 FML350 Familial Febrile Seizures SCN9A NM_002977.3(SCN9A):c.-324C>T SNV Uncertain significance 332008 rs201905758 2:167232480-167232480 2:166375970-166375970 FML350 Familial Febrile Seizures SCN9A NM_002977.3(SCN9A):c.-339G>C SNV Uncertain significance 332009 rs886055057 2:167232495-167232495 2:166375985-166375985 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*165_*167dup duplication Uncertain significance 331956 rs886055049 2:167055014-167055015 2:166198504-166198505 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*2860C>T SNV Uncertain significance 331902 rs200963393 2:167052322-167052322 2:166195812-166195812 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.1094A>G (p.Asn365Ser) SNV Uncertain significance 331995 rs886055055 2:167149754-167149754 2:166293244-166293244 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.3754A>G (p.Thr1252Ala) SNV Uncertain significance 331968 rs886055052 2:167094651-167094651 2:166238141-166238141 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*1770A>C SNV Uncertain significance 331927 rs200353065 2:167053412-167053412 2:166196902-166196902 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*226A>C SNV Uncertain significance 331953 rs886055048 2:167054956-167054956 2:166198446-166198446 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*2222T>C SNV Uncertain significance 331916 rs199958892 2:167052960-167052960 2:166196450-166196450 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.-126G>C SNV Uncertain significance 332002 rs200099565 2:167232282-167232282 2:166375772-166375772 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*2744del deletion Uncertain significance 331904 rs763459885 2:167052438-167052438 2:166195928-166195928 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.3265G>A (p.Val1089Met) SNV Uncertain significance 331973 rs886055053 2:167128995-167128995 2:166272485-166272485 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.2916T>C (p.Ser972=) SNV Uncertain significance 331975 rs886055054 2:167129344-167129344 2:166272834-166272834 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.3925-13T>C SNV Uncertain significance 331966 rs886055051 2:167085495-167085495 2:166228985-166228985 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*491del deletion Uncertain significance 331947 rs886055047 2:167054691-167054691 2:166198181-166198181 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*1357C>T SNV Uncertain significance 331934 rs200338267 2:167053825-167053825 2:166197315-166197315 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*2986T>G SNV Uncertain significance 331900 rs201730339 2:167052196-167052196 2:166195686-166195686 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.1014T>G (p.Asp338Glu) SNV Uncertain significance 331996 rs886055056 2:167149834-167149834 2:166293324-166293324 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.3497G>A (p.Cys1166Tyr) SNV Uncertain significance 331969 rs370455223 2:167099142-167099142 2:166242632-166242632 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*948G>A SNV Uncertain significance 331940 rs201415802 2:167054234-167054234 2:166197724-166197724 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*2928G>A SNV Uncertain significance 331901 rs199559478 2:167052254-167052254 2:166195744-166195744 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*3282A>C SNV Uncertain significance 331897 rs139483482 2:167051900-167051900 2:166195390-166195390 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.3464T>A (p.Phe1155Tyr) SNV Uncertain significance 289499 rs750839038 2:167108283-167108283 2:166251773-166251773 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.294C>A (p.Phe98Leu) SNV Uncertain significance 245738 rs199824489 2:167163549-167163549 2:166307039-166307039 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.29A>G (p.Gln10Arg) SNV Likely benign 6370 rs267607030 2:167168238-167168238 2:166311728-166311728 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*1960_*1962dup duplication Likely benign 331924 rs202073550 2:167053219-167053220 2:166196709-166196710 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*1605_*1606del deletion Likely benign 331929 rs200091138 2:167053576-167053577 2:166197066-166197067 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.2875-5del deletion Likely benign 331976 rs774840081 2:167129390-167129390 2:166272880-166272880 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*1434dup duplication Likely benign 331933 rs199505193 2:167053747-167053748 2:166197237-166197238 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.1603-21dup duplication Likely benign 331989 rs200430382 2:167141347-167141348 2:166284837-166284838 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*2312A>T SNV Benign/Likely benign 331912 rs185580193 2:167052870-167052870 2:166196360-166196360 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*3317A>G SNV Benign/Likely benign 331896 rs191667986 2:167051865-167051865 2:166195355-166195355 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*235T>C SNV Benign/Likely benign 331952 rs140553451 2:167054947-167054947 2:166198437-166198437 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.2165T>C (p.Leu722Ser) SNV Benign/Likely benign 331983 rs187526567 2:167137045-167137045 2:166280535-166280535 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.2875-6A>G SNV Benign/Likely benign 331977 rs760470229 2:167129391-167129391 2:166272881-166272881 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*18A>G SNV Benign/Likely benign 331960 rs150401869 2:167055164-167055164 2:166198654-166198654 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*204G>A SNV Benign/Likely benign 331955 rs111510277 2:167054978-167054978 2:166198468-166198468 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.3472+14T>C SNV Benign/Likely benign 331970 rs201979079 2:167108261-167108261 2:166251751-166251751 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.2517+6C>T SNV Benign/Likely benign 331980 rs145316463 2:167134644-167134644 2:166278134-166278134 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.1838C>T (p.Pro613Leu) SNV Benign/Likely benign 331985 rs200671761 2:167141099-167141099 2:166284589-166284589 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*377C>G SNV Benign/Likely benign 331949 rs115464654 2:167054805-167054805 2:166198295-166198295 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*958C>T SNV Benign/Likely benign 331939 rs143727895 2:167054224-167054224 2:166197714-166197714 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*920T>A SNV Benign/Likely benign 331941 rs201424899 2:167054262-167054262 2:166197752-166197752 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*125C>T SNV Benign/Likely benign 331958 rs200465050 2:167055057-167055057 2:166198547-166198547 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*2155G>A SNV Benign/Likely benign 331919 rs77565541 2:167053027-167053027 2:166196517-166196517 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*2662G>A SNV Benign/Likely benign 331906 rs149873320 2:167052520-167052520 2:166196010-166196010 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*2323G>T SNV Benign/Likely benign 331911 rs142172527 2:167052859-167052859 2:166196349-166196349 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*2721C>G SNV Benign/Likely benign 331905 rs199595958 2:167052461-167052461 2:166195951-166195951 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*3038C>T SNV Benign/Likely benign 331899 rs115766730 2:167052144-167052144 2:166195634-166195634 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*2212T>C SNV Benign/Likely benign 331917 rs200750861 2:167052970-167052970 2:166196460-166196460 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.2437A>G (p.Ser813Gly) SNV Benign/Likely benign 331982 rs201890240 2:167134730-167134730 2:166278220-166278220 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.-283G>C SNV Benign/Likely benign 332004 rs191091185 2:167232439-167232439 2:166375929-166375929 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.-294T>C SNV Benign/Likely benign 332006 rs141521157 2:167232450-167232450 2:166375940-166375940 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.554G>A (p.Arg185His) SNV Benign/Likely benign 157596 rs73969684 2:167162344-167162344 2:166305834-166305834 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.1975-3del deletion Benign/Likely benign 194207 rs35888674 2:167138321-167138321 2:166281811-166281811 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val) SNV Benign/Likely benign 194498 rs149707354 2:167134775-167134775 2:166278265-166278265 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) SNV Benign/Likely benign 196020 rs111558968 2:167055370-167055370 2:166198860-166198860 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.4399-14G>T SNV Benign/Likely benign 258886 rs112927502 2:167060988-167060988 2:166204478-166204478 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.2190G>C (p.Trp730Cys) SNV Benign/Likely benign 258882 rs202055175 2:167137020-167137020 2:166280510-166280510 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.4315G>A (p.Val1439Ile) SNV Benign/Likely benign 287829 rs149346064 2:167083160-167083160 2:166226650-166226650 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=) SNV Benign/Likely benign 167662 rs201531206 2:167143050-167143050 2:166286540-166286540 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.3362G>A (p.Arg1121Gln) SNV Benign/Likely benign 130262 rs74401238 2:167108385-167108385 2:166251875-166251875 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn) SNV Benign/Likely benign 130258 rs58022607 2:167142979-167142979 2:166286469-166286469 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.174G>A (p.Gln58=) SNV Benign 130259 rs6432901 2:167168093-167168093 2:166311583-166311583 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.3675C>A (p.Ile1225=) SNV Benign 130264 rs77144869 2:167094730-167094730 2:166238220-166238220 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.5756A>G (p.Asp1919Gly) SNV Benign 94092 rs3750904 2:167055393-167055393 2:166198883-166198883 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=) SNV Benign 130254 rs13414203 2:167145142-167145142 2:166288632-166288632 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.1155G>T (p.Val385=) SNV Benign 130255 rs58465962 2:167145106-167145106 2:166288596-166288596 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=) SNV Benign 130256 rs13402180 2:167144995-167144995 2:166288485-166288485 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=) SNV Benign 130257 rs6747673 2:167144974-167144974 2:166288464-166288464 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.4399-10_4399-7del short repeat Benign 167657 rs77944059 2:167060981-167060984 2:166204471-166204474 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.2105-14C>T SNV Benign 167659 rs6432893 2:167137119-167137119 2:166280609-166280609 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.2105-15G>A SNV Benign 167660 rs4525717 2:167137120-167137120 2:166280610-166280610 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.1975-12dup duplication Benign 167661 rs35888674 2:167138320-167138321 2:166281810-166281811 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.3802-4A>G SNV Benign 130266 rs75230218 2:167089976-167089976 2:166233466-166233466 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.3802-8T>C SNV Benign 130267 rs76550960 2:167089980-167089980 2:166233470-166233470 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.444A>G (p.Pro148=) SNV Benign 130269 rs9646771 2:167163043-167163043 2:166306533-166306533 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=) SNV Benign 130270 rs149207258 2:167056337-167056337 2:166199827-166199827 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.688+13T>C SNV Benign 139076 rs74449889 2:167160735-167160735 2:166304225-166304225 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*244_*247dup duplication Benign 331950 rs143461219 2:167054934-167054935 2:166198424-166198425 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*1796C>T SNV Benign 331925 rs16851751 2:167053386-167053386 2:166196876-166196876 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*2616_*2626del deletion Benign 331908 rs145255931 2:167052556-167052566 2:166196046-166196056 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*2540C>T SNV Benign 331909 rs58249489 2:167052642-167052642 2:166196132-166196132 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*2297A>T SNV Benign 331913 rs75345520 2:167052885-167052885 2:166196375-166196375 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*2854T>C SNV Benign 331903 rs73017538 2:167052328-167052328 2:166195818-166195818 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*1774G>A SNV Benign 331926 rs114843828 2:167053408-167053408 2:166196898-166196898 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*1660G>A SNV Benign 331928 rs16851753 2:167053522-167053522 2:166197012-166197012 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*798dup duplication Benign 331942 rs564394161 2:167054383-167054384 2:166197873-166197874 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*529_*530del deletion Benign 331946 rs140024416 2:167054652-167054653 2:166198142-166198143 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*1013C>T SNV Benign 331938 rs16851754 2:167054169-167054169 2:166197659-166197659 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*237C>G SNV Benign 331951 rs16851755 2:167054945-167054945 2:166198435-166198435 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*129C>T SNV Benign 331957 rs16851759 2:167055053-167055053 2:166198543-166198543 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*1184T>G SNV Benign 331935 rs11902920 2:167053998-167053998 2:166197488-166197488 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*771_*772dup duplication Benign 331944 rs144515054 2:167054409-167054410 2:166197899-166197900 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.-290T>C SNV Benign 332005 rs148362057 2:167232446-167232446 2:166375936-166375936 FML350 Familial Febrile Seizures SCN9A NM_002977.3(SCN9A):c.-307G>T SNV Benign 332007 rs1881440 2:167232463-167232463 2:166375953-166375953 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*2146G>C SNV Benign 331921 rs1062844 2:167053036-167053036 2:166196526-166196526 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*2640G>A SNV Benign 331907 rs13396526 2:167052542-167052542 2:166196032-166196032 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*416dup duplication Benign 331948 rs3834910 2:167054765-167054766 2:166198255-166198256 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.2874+13del deletion Benign 331978 rs200434162 2:167133480-167133480 2:166276970-166276970 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*2154C>G SNV Benign 331920 rs17804037 2:167053028-167053028 2:166196518-166196518 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*2136C>G SNV Benign 331922 rs77050817 2:167053046-167053046 2:166196536-166196536 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*1118_*1119insCA insertion Benign 331936 rs140616949 2:167054063-167054064 2:166197553-166197554 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*1605del deletion Benign 331930 rs148459420 2:167053577-167053577 2:166197067-166197067 FML350 Familial Febrile Seizures SCN9A NM_001365536.1(SCN9A):c.*1492C>G SNV Benign 331932 rs73017542 2:167053690-167053690 2:166197180-166197180 FML350 Familial Febrile Seizures COL2A1 NM_001844.5(COL2A1):c.1833+1G>A SNV Pathogenic 866602 12:48378777-48378777 12:47984994-47984994 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.6012-12T>A SNV Pathogenic 865762 12:88462434-88462434 12:88068657-88068657 FND002 Fundus Dystrophy TRPM1 NM_001252024.2(TRPM1):c.494-1G>C SNV Pathogenic 866281 15:31359391-31359391 15:31067188-31067188 FND002 Fundus Dystrophy CNGB1 NM_001297.5(CNGB1):c.1373-1G>A SNV Pathogenic 865777 16:57965783-57965783 16:57931879-57931879 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.698-1G>A SNV Pathogenic 866370 19:54627877-54627877 19:54124498-54124498 FND002 Fundus Dystrophy FRMD7 NM_001306193.1(FRMD7):c.239+1G>A SNV Pathogenic 866236 X:131231293-131231293 X:132097265-132097265 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.934+1G>T SNV Pathogenic 865818 X:38163887-38163887 X:38304634-38304634 FND002 Fundus Dystrophy RP2 NM_006915.3(RP2):c.884-1G>A SNV Pathogenic 866273 X:46736939-46736939 X:46877504-46877504 FND002 Fundus Dystrophy CHM NM_000390.4(CHM):c.819+1G>A SNV Pathogenic 866747 X:85213865-85213865 X:85958860-85958860 FND002 Fundus Dystrophy FAM161A NM_001201543.2(FAM161A):c.685C>T (p.Arg229Ter) SNV Pathogenic 35 rs267606794 2:62067454-62067454 2:61840319-61840319 FND002 Fundus Dystrophy FAM161A NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) SNV Pathogenic 36 rs200691042 2:62066830-62066830 2:61839695-61839695 FND002 Fundus Dystrophy FAM161A NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs) deletion Pathogenic 37 rs397704718 2:62066783-62066784 2:61839648-61839649 FND002 Fundus Dystrophy FAM161A NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter) SNV Pathogenic 38 rs202193201 2:62066572-62066572 2:61839437-61839437 FND002 Fundus Dystrophy INPP5E NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln) SNV Pathogenic 399 rs121918129 9:139327014-139327014 9:136432562-136432562 FND002 Fundus Dystrophy LCA5 NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) SNV Pathogenic 968 rs121918165 6:80203353-80203353 6:79493636-79493636 FND002 Fundus Dystrophy KLHL7 NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val) SNV Pathogenic 1009 rs137853113 7:23180403-23180403 7:23140784-23140784 FND002 Fundus Dystrophy BBS10 NM_024685.4(BBS10):c.271dup (p.Cys91fs) duplication Pathogenic 1328 rs549625604 12:76741493-76741494 12:76347713-76347714 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) SNV Pathogenic 1333 rs137852832 12:88471040-88471040 12:88077263-88077263 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.2991+1655A>G SNV Pathogenic 1337 rs281865192 12:88494960-88494960 12:88101183-88101183 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) SNV Pathogenic 1339 rs137852834 12:88477713-88477713 12:88083936-88083936 FND002 Fundus Dystrophy IQCB1 NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter) SNV Pathogenic 1830 rs121918244 3:121500619-121500619 3:121781772-121781772 FND002 Fundus Dystrophy IQCB1 NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) deletion Pathogenic 1831 rs750962965 3:121527825-121527826 3:121808978-121808979 FND002 Fundus Dystrophy RDH12 NM_152443.3(RDH12):c.806_810del (p.Ala269fs) deletion Pathogenic 2047 rs386834261 14:68196054-68196058 14:67729337-67729341 FND002 Fundus Dystrophy RDH12 NM_152443.3(RDH12):c.184C>T (p.Arg62Ter) SNV Pathogenic 2050 rs104894471 14:68191305-68191305 14:67724588-67724588 FND002 Fundus Dystrophy RDH12 NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) SNV Pathogenic 2055 rs28940315 14:68191923-68191923 14:67725206-67725206 FND002 Fundus Dystrophy RDH12 NM_152443.3(RDH12):c.377C>T (p.Ala126Val) SNV Pathogenic 2061 rs202126574 14:68192801-68192801 14:67726084-67726084 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) SNV Pathogenic 2356 rs80338902 1:216420460-216420460 1:216247118-216247118 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) SNV Pathogenic 2357 rs111033364 1:215901574-215901574 1:215728232-215728232 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.949C>A (p.Arg317=) SNV Pathogenic 2358 rs111033272 1:216498841-216498841 1:216325499-216325499 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) SNV Pathogenic 2359 rs121912600 1:216497582-216497582 1:216324240-216324240 FND002 Fundus Dystrophy CERKL NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) SNV Pathogenic 2364 rs121909398 2:182423344-182423344 2:181558617-181558617 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.253T>C (p.Tyr85His) SNV Pathogenic 2728 rs28940274 11:61723195-61723195 11:61955723-61955723 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.679T>A (p.Tyr227Asn) SNV Pathogenic 2731 rs28941469 11:61724901-61724901 11:61957429-61957429 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.728C>T (p.Ala243Val) SNV Pathogenic 2737 rs28940570 11:61725631-61725631 11:61958159-61958159 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.1468_1469CA[1] (p.His490fs) short repeat Pathogenic 2739 rs281865528 11:61730094-61730095 11:61962622-61962623 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.4334_4335CT[2] (p.Cys1447fs) short repeat Pathogenic 2353 rs111033367 1:216363622-216363623 1:216190280-216190281 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.256G>A (p.Val86Met) SNV Pathogenic 2744 rs121918289 11:61723198-61723198 11:61955726-61955726 FND002 Fundus Dystrophy PRPF3 NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met) SNV Pathogenic 3352 rs121434241 1:150316692-150316692 1:150344216-150344216 FND002 Fundus Dystrophy PRPF8 NM_006445.4(PRPF8):c.6926A>G (p.His2309Arg) SNV Pathogenic 3355 rs121434236 17:1554178-1554178 17:1650884-1650884 FND002 Fundus Dystrophy PRPF8 NM_006445.4(PRPF8):c.6926A>C (p.His2309Pro) SNV Pathogenic 3356 rs121434236 17:1554178-1554178 17:1650884-1650884 FND002 Fundus Dystrophy PRPF8 NM_006445.4(PRPF8):c.6929G>A (p.Arg2310Lys) SNV Pathogenic 3357 rs121434238 17:1554175-1554175 17:1650881-1650881 FND002 Fundus Dystrophy CLN3 NM_000086.2(CLN3):c.883G>A (p.Glu295Lys) SNV Pathogenic 3556 rs121434286 16:28493821-28493821 16:28482500-28482500 FND002 Fundus Dystrophy ALMS1 NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) deletion Pathogenic 3971 rs387906312 2:73799776-73799776 2:73572649-73572649 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.527+3A>G SNV Pathogenic 4360 rs587776590 19:54626942-54626942 19:54123563-54123563 FND002 Fundus Dystrophy BBS2 NM_031885.4(BBS2):c.646C>T (p.Arg216Ter) SNV Pathogenic 4583 rs121908180 16:56540103-56540103 16:56506191-56506191 FND002 Fundus Dystrophy CDH23 NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) SNV Pathogenic 4916 rs111033270 10:73539073-73539073 10:71779316-71779316 FND002 Fundus Dystrophy ELOVL4 NM_022726.4(ELOVL4):c.790_794del (p.Asn264fs) deletion Pathogenic 4939 rs1131690770 6:80626476-80626480 6:79916759-79916763 FND002 Fundus Dystrophy OPA1 NM_015560.2(OPA1):c.2708_2711delTTAG deletion Pathogenic 5082 rs80356530 3:193384957-193384960 3:193667168-193667171 FND002 Fundus Dystrophy USH1C NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) duplication Pathogenic 5141 rs397515359 11:17552955-17552956 11:17531408-17531409 FND002 Fundus Dystrophy BBS2 NM_031885.4(BBS2):c.823C>T (p.Arg275Ter) SNV Pathogenic 4572 rs121908177 16:56536702-56536702 16:56502790-56502790 FND002 Fundus Dystrophy MKKS NM_018848.3(MKKS):c.110A>G (p.Tyr37Cys) SNV Pathogenic 5309 rs74315396 20:10394053-10394053 20:10413405-10413405 FND002 Fundus Dystrophy AIPL1 NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) SNV Pathogenic 5565 rs62637014 17:6329101-6329101 17:6425781-6425781 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.1726C>T (p.Gln576Ter) SNV Pathogenic 5609 rs137853005 4:15995651-15995651 4:15994028-15994028 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) SNV Pathogenic 5610 rs137853006 4:16014922-16014922 4:16013299-16013299 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr) SNV Pathogenic 5730 rs62635656 1:197404115-197404115 1:197434985-197434985 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) SNV Pathogenic 5732 rs62635654 1:197396745-197396745 1:197427615-197427615 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) SNV Pathogenic 5733 rs28939720 1:197396689-197396689 1:197427559-197427559 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter) SNV Pathogenic 5736 rs137853137 1:197396856-197396856 1:197427726-197427726 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg) SNV Pathogenic 5739 rs62636275 1:197404300-197404300 1:197435170-197435170 FND002 Fundus Dystrophy GRM6 NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter) SNV Pathogenic 5840 rs62638214 5:178413394-178413394 5:178986393-178986393 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.2029C>T (p.Arg677Ter) SNV Pathogenic 5965 rs104894082 8:55538471-55538471 8:54625911-54625911 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.2280_2284TAAAT[1] (p.Leu762fs) short repeat Pathogenic 5966 rs869320726 8:55538722-55538726 8:54626162-54626166 FND002 Fundus Dystrophy TRPM1 NM_001252024.2(TRPM1):c.362T>C (p.Leu121Pro) SNV Pathogenic 6227 rs191205969 15:31360213-31360213 15:31068010-31068010 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.2189+1G>T SNV Pathogenic 5403 rs371956016 2:112777100-112777100 2:112019523-112019523 FND002 Fundus Dystrophy PEX1 NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) SNV Pathogenic 7516 rs61750420 7:92130876-92130876 7:92501562-92501562 FND002 Fundus Dystrophy PEX1 NM_000466.3(PEX1):c.2097dup (p.Ile700fs) duplication Pathogenic 7519 rs61750415 7:92132483-92132484 7:92503169-92503170 FND002 Fundus Dystrophy CRX NM_000554.6(CRX):c.121C>T (p.Arg41Trp) SNV Pathogenic 7418 rs104894672 19:48339520-48339520 19:47836263-47836263 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) SNV Pathogenic 7882 rs61751408 1:94471065-94471065 1:94005509-94005509 FND002 Fundus Dystrophy SNRNP200 NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu) SNV Pathogenic 7928 rs267607077 2:96953706-96953706 2:96287968-96287968 FND002 Fundus Dystrophy EFEMP1 NM_001039348.3(EFEMP1):c.1033C>T (p.Arg345Trp) SNV Pathogenic 8072 rs121434491 2:56098226-56098226 2:55871091-55871091 FND002 Fundus Dystrophy GUCA1A NM_000409.4(GUCA1A):c.296A>G (p.Tyr99Cys) SNV Pathogenic 9150 rs104893967 6:42146112-42146112 6:42178374-42178374 FND002 Fundus Dystrophy GUCA1A NM_000409.4(GUCA1A):c.451C>T (p.Leu151Phe) SNV Pathogenic 9152 rs121434631 6:42146986-42146986 6:42179248-42179248 FND002 Fundus Dystrophy GUCY2D NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys) SNV Pathogenic 9355 rs61750172 17:7918018-7918018 17:8014700-8014700 FND002 Fundus Dystrophy GUCY2D NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) SNV Pathogenic 9357 rs61750173 17:7918019-7918019 17:8014701-8014701 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.848G>A (p.Arg283Gln) SNV Pathogenic 9475 rs104893614 2:99012481-99012481 2:98396018-98396018 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.1228C>T (p.Arg410Trp) SNV Pathogenic 9479 rs137852608 2:99012861-99012861 2:98396398-98396398 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp) SNV Pathogenic 9482 rs104893621 2:99012939-99012939 2:98396476-98396476 FND002 Fundus Dystrophy RS1 NM_003159.2(CDKL5):c.2797+1141A>G SNV Pathogenic 9886 rs61752063 X:18665351-18665351 X:18647231-18647231 FND002 Fundus Dystrophy RS1 NM_003159.2(CDKL5):c.2797+1123G>A SNV Pathogenic 9887 rs61752067 X:18665333-18665333 X:18647213-18647213 FND002 Fundus Dystrophy CDKL5 NM_003159.2(CDKL5):c.2797+1213C>T SNV Pathogenic 9888 rs104894928 X:18665423-18665423 X:18647303-18647303 FND002 Fundus Dystrophy RS1 NM_003159.2(CDKL5):c.2797+1213C>T SNV Pathogenic 9888 rs104894928 X:18665423-18665423 X:18647303-18647303 FND002 Fundus Dystrophy RS1 NM_003159.2(CDKL5):c.2714-3936G>A SNV Pathogenic 9895 rs104894930 X:18660191-18660191 X:18642071-18642071 FND002 Fundus Dystrophy RS1 NM_003159.2(CDKL5):c.2797+1122C>T SNV Pathogenic 9896 rs61752068 X:18665332-18665332 X:18647212-18647212 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.179G>T (p.Gly60Val) SNV Pathogenic 9902 rs62638634 X:38182174-38182174 X:38322921-38322921 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+1191_1905+1192del deletion Pathogenic 9910 rs606231180 X:38145155-38145156 X:38285902-38285903 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+1187_1905+1188del short repeat Pathogenic 9911 rs606231181 X:38145159-38145160 X:38285906-38285907 FND002 Fundus Dystrophy RP2 NM_006915.3(RP2):c.353G>A (p.Arg118His) SNV Pathogenic 10546 rs28933687 X:46713161-46713161 X:46853726-46853726 FND002 Fundus Dystrophy RP2 NM_006915.3(RP2):c.358C>T (p.Arg120Ter) SNV Pathogenic 10551 rs104894927 X:46713166-46713166 X:46853731-46853731 FND002 Fundus Dystrophy CHM NM_000390.4(CHM):c.1580_1583TGTT[1] (p.Val529fs) short repeat Pathogenic 11152 rs587776746 X:85133992-85133995 X:85878987-85878990 FND002 Fundus Dystrophy CACNA1F NM_001256789.3(CACNA1F):c.2872C>T (p.Arg958Ter) SNV Pathogenic 11615 rs122456134 X:49074970-49074970 X:49218511-49218511 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) SNV Pathogenic 7904 rs61750130 1:94496666-94496666 1:94031110-94031110 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) SNV Pathogenic 7907 rs61751383 1:94471056-94471056 1:94005500-94005500 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.872C>G (p.Thr291Arg) SNV Pathogenic 9477 rs104893616 2:99012505-99012505 2:98396042-98396042 FND002 Fundus Dystrophy BBS1 NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) SNV Pathogenic 12143 rs113624356 11:66293652-66293652 11:66526181-66526181 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.68C>A (p.Pro23His) SNV Pathogenic 13013 rs104893768 3:129247644-129247644 3:129528801-129528801 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) SNV Pathogenic 13014 rs29001566 3:129252554-129252554 3:129533711-129533711 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.173C>G (p.Thr58Arg) SNV Pathogenic 13016 rs28933394 3:129247749-129247749 3:129528906-129528906 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.50C>T (p.Thr17Met) SNV Pathogenic 13018 rs104893769 3:129247626-129247626 3:129528783-129528783 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.403C>T (p.Arg135Trp) SNV Pathogenic 13028 rs104893775 3:129249760-129249760 3:129530917-129530917 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.544G>A (p.Gly182Ser) SNV Pathogenic 13033 rs104893780 3:129251107-129251107 3:129532264-129532264 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.329G>A (p.Cys110Tyr) SNV Pathogenic 13035 rs104893787 3:129247905-129247905 3:129529062-129529062 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.316G>A (p.Gly106Arg) SNV Pathogenic 13038 rs104893773 3:129247892-129247892 3:129529049-129529049 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.620T>G (p.Met207Arg) SNV Pathogenic 13043 rs104893782 3:129251183-129251183 3:129532340-129532340 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.511C>T (p.Pro171Ser) SNV Pathogenic 13050 rs104893794 3:129249868-129249868 3:129531025-129531025 FND002 Fundus Dystrophy RLBP1 NM_000326.5(RLBP1):c.677T>A (p.Met226Lys) SNV Pathogenic 13101 rs137853291 15:89754981-89754981 15:89211750-89211750 FND002 Fundus Dystrophy PDE6B NM_000283.3(PDE6B):c.892C>T (p.Gln298Ter) SNV Pathogenic 13103 rs121918579 4:647908-647908 4:654119-654119 FND002 Fundus Dystrophy RPE65 NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) SNV Pathogenic 13115 rs61752871 1:68910541-68910541 1:68444858-68444858 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu) SNV Pathogenic 13164 rs61755806 6:42672284-42672284 6:42704546-42704546 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro) SNV Pathogenic 13165 rs121918563 6:42689519-42689519 6:42721781-42721781 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) SNV Pathogenic 13167 rs61755793 6:42689558-42689558 6:42721820-42721820 FND002 Fundus Dystrophy VCAN NM_004385.5(VCAN):c.4004-2A>G SNV Pathogenic 17494 rs80356555 5:82832824-82832824 5:83537005-83537005 FND002 Fundus Dystrophy PDE6A NM_000440.3(PDE6A):c.2053G>A (p.Val685Met) SNV Pathogenic 29874 rs121909835 5:149263074-149263074 5:149883511-149883511 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys) SNV Pathogenic 30218 rs61751399 1:94506923-94506923 1:94041367-94041367 FND002 Fundus Dystrophy SGSH NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) SNV Pathogenic 30459 rs138504221 17:78185927-78185927 17:80212128-80212128 FND002 Fundus Dystrophy CLRN1 NM_001195794.1(CLRN1):c.92C>T (p.Pro31Leu) SNV Pathogenic 30575 rs374390376 3:150690404-150690404 3:150972617-150972617 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.7595-2144A>G SNV Pathogenic 30722 rs786200928 1:216064540-216064540 1:215891198-215891198 FND002 Fundus Dystrophy AHI1 NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter) SNV Pathogenic 30760 rs201391050 6:135778798-135778798 6:135457660-135457660 FND002 Fundus Dystrophy IQCB1 NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter) SNV Pathogenic 30778 rs373909351 3:121491506-121491506 3:121772659-121772659 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.113del (p.Gly38fs) deletion Pathogenic 13177 rs61755769 6:42689960-42689960 6:42722222-42722222 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) SNV Pathogenic 13183 rs61755783 6:42689649-42689649 6:42721911-42721911 FND002 Fundus Dystrophy HGSNAT NM_152419.3(HGSNAT):c.234+1G>A SNV Pathogenic 30832 rs483352908 8:43002207-43002207 8:43147064-43147064 FND002 Fundus Dystrophy TTC21B NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) SNV Pathogenic 30935 rs140511594 2:166797621-166797621 2:165941111-165941111 FND002 Fundus Dystrophy IFT140 NM_014714.4(IFT140):c.2399+1G>T SNV Pathogenic 31680 rs376586707 16:1607935-1607935 16:1557934-1557934 FND002 Fundus Dystrophy PRCD NM_001077620.3(PRCD):c.64C>T (p.Arg22Ter) SNV Pathogenic 37041 rs387907268 17:74536287-74536287 17:76540205-76540205 FND002 Fundus Dystrophy NMNAT1 NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) SNV Pathogenic 37134 rs150726175 1:10042688-10042688 1:9982630-9982630 FND002 Fundus Dystrophy KCNV2 NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg) SNV Pathogenic 37247 rs149648640 9:2729470-2729470 9:2729470-2729470 FND002 Fundus Dystrophy CDHR1 NM_033100.4(CDHR1):c.338del (p.Gly113fs) deletion Pathogenic 37292 rs747425652 10:85957581-85957581 10:84197825-84197825 FND002 Fundus Dystrophy CYP4V2 NM_207352.4(CYP4V2):c.992A>C (p.His331Pro) SNV Pathogenic 39275 rs199476197 4:187126358-187126358 4:186205204-186205204 FND002 Fundus Dystrophy KCNV2 NM_133497.4(KCNV2):c.8_11del (p.Lys3fs) deletion Pathogenic 39810 rs786205121 9:2717745-2717748 9:2717745-2717748 FND002 Fundus Dystrophy SAG NM_000541.5(SAG):c.577C>T (p.Arg193Ter) SNV Pathogenic 41895 rs201153410 2:234237188-234237188 2:233328542-233328542 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) SNV Pathogenic 43218 rs111033178 11:76901153-76901153 11:77190108-77190108 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.5392C>T (p.Gln1798Ter) SNV Pathogenic 43282 rs397516317 11:76915186-76915186 11:77204141-77204141 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.6025del (p.Ala2009fs) deletion Pathogenic 43313 rs397516326 11:76919821-76919821 11:77208776-77208776 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter) SNV Pathogenic 43345 rs111033285 11:76869472-76869472 11:77158426-77158426 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.1036A>C (p.Asn346His) SNV Pathogenic 48347 rs369522997 1:216498754-216498754 1:216325412-216325412 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.12067-2A>G SNV Pathogenic 48390 rs397517978 1:215853720-215853720 1:215680378-215680378 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.11411del (p.Pro3804fs) deletion Pathogenic 48375 rs397517973 1:215916656-215916656 1:215743314-215743314 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter) SNV Pathogenic 48408 rs397517983 1:215848385-215848385 1:215675043-215675043 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) SNV Pathogenic 48471 rs111033273 1:216495263-216495263 1:216321921-216321921 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter) SNV Pathogenic 48499 rs397518011 1:216380622-216380622 1:216207280-216207280 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.5581G>A (p.Gly1861Ser) SNV Pathogenic 48535 rs375668376 1:216246634-216246634 1:216073292-216073292 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter) SNV Pathogenic 48554 rs111033386 1:216219874-216219874 1:216046532-216046532 FND002 Fundus Dystrophy USH2A NM_007123.5(USH2A):c.920_923dup (p.His308fs) duplication Pathogenic 48615 rs397518043 1:216498866-216498867 1:216325524-216325525 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) SNV Pathogenic 48626 rs397518048 1:215990485-215990485 1:215817143-215817143 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter) SNV Pathogenic 48628 rs73090721 1:215990450-215990450 1:215817108-215817108 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg) SNV Pathogenic 48634 rs111033263 1:215972408-215972408 1:215799066-215799066 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.8559-2A>G SNV Pathogenic 48604 rs397518039 1:216051224-216051224 1:215877882-215877882 FND002 Fundus Dystrophy CEP290 NM_025114.3(CEP290):c.1219_1220delAT (p.Met407Glufs) short repeat Pathogenic 56729 rs386834148 12:88514913-88514914 12:88121136-88121137 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.5493del (p.Ala1832fs) deletion Pathogenic 56739 rs386834158 12:88471567-88471567 12:88077790-88077790 FND002 Fundus Dystrophy COL18A1 NM_030582.4(COL18A1):c.4054_4055del (p.Leu1352fs) deletion Pathogenic 65410 rs398122391 21:46930005-46930006 21:45510091-45510092 FND002 Fundus Dystrophy RS1 NM_003159.2(CDKL5):c.2714-3902del deletion Pathogenic 68076 rs199469697 X:18660220-18660220 X:18642100-18642100 FND002 Fundus Dystrophy ALMS1 NM_015120.4(ALMS1):c.1794_1801dup (p.Lys601delinsArgLeuTer) duplication Pathogenic 92190 rs398122991 2:73675442-73675443 2:73448315-73448316 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4540-2A>G SNV Pathogenic 92869 rs61752435 1:94490606-94490606 1:94025050-94025050 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.67-2A>G SNV Pathogenic 92871 rs398123339 1:94578624-94578624 1:94113068-94113068 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter) SNV Pathogenic 93621 rs398123575 6:64574212-64574212 6:63864319-63864319 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.8408dup (p.Asn2803fs) duplication Pathogenic 93622 rs398123576 6:64431518-64431519 6:63721622-63721623 FND002 Fundus Dystrophy CNGB1 NM_001297.5(CNGB1):c.952C>T (p.Gln318Ter) SNV Pathogenic 93705 rs372504780 16:57984367-57984367 16:57950463-57950463 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.12232_12233GA[1] (p.Asn4079fs) short repeat Pathogenic 96665 rs398124618 1:215853550-215853551 1:215680208-215680209 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.6862G>T (p.Glu2288Ter) SNV Pathogenic 96666 rs398124619 1:216144062-216144062 1:215970720-215970720 FND002 Fundus Dystrophy GUCY2D NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) SNV Pathogenic 98563 rs61750168 17:7917236-7917236 17:8013918-8013918 FND002 Fundus Dystrophy GUCY2D NM_000180.4(GUCY2D):c.2861T>C (p.Leu954Pro) SNV Pathogenic 98578 rs61750182 17:7918737-7918737 17:8015419-8015419 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys) SNV Pathogenic 98666 rs61755781 6:42689651-42689651 6:42721913-42721913 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.578_579del (p.Lys193fs) deletion Pathogenic 98680 rs62645929 6:42689494-42689495 6:42721756-42721757 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.638G>A (p.Cys213Tyr) SNV Pathogenic 98692 rs61755803 6:42672293-42672293 6:42704555-42704555 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.828+3A>T SNV Pathogenic 98713 rs281865373 6:42672100-42672100 6:42704362-42704362 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1092dup (p.Ala365fs) duplication Pathogenic 98727 rs281865301 X:38158361-38158362 X:38299108-38299109 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1377_1378del (p.Leu460fs) deletion Pathogenic 98739 rs62653029 X:38156573-38156574 X:38297320-38297321 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.28+1G>A SNV Pathogenic 98771 rs62638627 X:38186592-38186592 X:38327339-38327339 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.372del (p.Glu125fs) deletion Pathogenic 98783 rs62638642 X:38178179-38178179 X:38318926-38318926 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.485_486del (p.Phe162fs) deletion Pathogenic 98787 rs281865297 X:38176702-38176703 X:38317449-38317450 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.492G>A (p.Trp164Ter) SNV Pathogenic 98789 rs62638648 X:38176696-38176696 X:38317443-38317443 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.934+1G>A SNV Pathogenic 98812 rs62640592 X:38163887-38163887 X:38304634-38304634 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.101del (p.Asn34fs) deletion Pathogenic 98815 rs281865295 X:38182705-38182705 X:38323452-38323452 FND002 Fundus Dystrophy RPE65 NM_000329.3(RPE65):c.11+5G>A SNV Pathogenic 98825 rs61751276 1:68915573-68915573 1:68449890-68449890 FND002 Fundus Dystrophy RPE65 NM_000329.3(RPE65):c.118G>A (p.Gly40Ser) SNV Pathogenic 98830 rs61751281 1:68912520-68912520 1:68446837-68446837 FND002 Fundus Dystrophy RPE65 NM_000329.3(RPE65):c.57_58del (p.Glu20fs) deletion Pathogenic 98877 rs62642582 1:68914343-68914344 1:68448660-68448661 FND002 Fundus Dystrophy RPE65 NM_000329.3(RPE65):c.95-2A>T SNV Pathogenic 98899 rs61751279 1:68912545-68912545 1:68446862-68446862 FND002 Fundus Dystrophy RPE65 NM_000329.3(RPE65):c.962dup (p.Asn321fs) duplication Pathogenic 98902 rs61752906 1:68904660-68904661 1:68438977-68438978 FND002 Fundus Dystrophy RS1 NM_003159.2(CDKL5):c.2714-3902G>A SNV Pathogenic 98990 rs61753174 X:18660225-18660225 X:18642105-18642105 FND002 Fundus Dystrophy RS1 NM_003159.2(CDKL5):c.2714-3902dup duplication Pathogenic 98995 rs199469697 X:18660219-18660220 X:18642099-18642100 FND002 Fundus Dystrophy RS1 NM_003159.2(CDKL5):c.2714-3917G>A SNV Pathogenic 98996 rs281865354 X:18660210-18660210 X:18642090-18642090 FND002 Fundus Dystrophy RS1 NM_003159.2(CDKL5):c.2714-3924A>G SNV Pathogenic 98999 rs281865356 X:18660203-18660203 X:18642083-18642083 FND002 Fundus Dystrophy RS1 NM_003159.2(CDKL5):c.2714-3926G>A SNV Pathogenic 99000 rs281865357 X:18660201-18660201 X:18642081-18642081 FND002 Fundus Dystrophy RS1 NM_003159.2(CDKL5):c.2714-3975A>G SNV Pathogenic 99014 rs281865368 X:18660152-18660152 X:18642032-18642032 FND002 Fundus Dystrophy RS1 NM_003159.2(CDKL5):c.2797+1110dup duplication Pathogenic 98933 rs61752071 X:18665318-18665319 X:18647198-18647199 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter) SNV Pathogenic 99035 rs61748550 1:94544895-94544895 1:94079339-94079339 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1317G>A (p.Trp439Ter) SNV Pathogenic 99043 rs61752391 1:94544185-94544185 1:94078629-94078629 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1715G>C (p.Arg572Pro) SNV Pathogenic 99073 rs61748559 1:94528713-94528713 1:94063157-94063157 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) SNV Pathogenic 99084 rs61749409 1:94528266-94528266 1:94062710-94062710 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1917C>A (p.Tyr639Ter) SNV Pathogenic 99098 rs61749415 1:94528153-94528153 1:94062597-94062597 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) SNV Pathogenic 99114 rs61749423 1:94526212-94526212 1:94060656-94060656 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2099G>A (p.Trp700Ter) SNV Pathogenic 99117 rs61749425 1:94526154-94526154 1:94060598-94060598 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2005_2006del (p.Met669fs) deletion Pathogenic 99111 rs61749422 1:94526247-94526248 1:94060691-94060692 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2461T>A (p.Trp821Arg) SNV Pathogenic 99136 rs61749433 1:94520793-94520793 1:94055237-94055237 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2564G>A (p.Trp855Ter) SNV Pathogenic 99144 rs61752406 1:94520690-94520690 1:94055134-94055134 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3050+5G>A SNV Pathogenic 99192 rs61751262 1:94510164-94510164 1:94044608-94044608 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys) SNV Pathogenic 99211 rs61751398 1:94508386-94508386 1:94042830-94042830 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro) SNV Pathogenic 99217 rs62645946 1:94586570-94586570 1:94121014-94121014 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3303G>A (p.Trp1101Ter) SNV Pathogenic 99218 rs61752419 1:94508342-94508342 1:94042786-94042786 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3323G>A (p.Arg1108His) SNV Pathogenic 99219 rs61750121 1:94508322-94508322 1:94042766-94042766 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3754G>T (p.Glu1252Ter) SNV Pathogenic 99238 rs61752423 1:94502760-94502760 1:94037204-94037204 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3898C>T (p.Arg1300Ter) SNV Pathogenic 99245 rs61752427 1:94497564-94497564 1:94032008-94032008 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4253+5G>T SNV Pathogenic 99267 rs61750138 1:94496547-94496547 1:94030991-94030991 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter) SNV Pathogenic 99263 rs61750137 1:94496571-94496571 1:94031015-94031015 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) SNV Pathogenic 99288 rs61751402 1:94495071-94495071 1:94029515-94029515 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) duplication Pathogenic 99292 rs281865377 1:94495002-94495003 1:94029446-94029447 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter) SNV Pathogenic 99300 rs62646861 1:94568687-94568687 1:94103131-94103131 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.45G>A (p.Trp15Ter) SNV Pathogenic 99305 rs62645957 1:94586557-94586557 1:94121001-94121001 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4854G>A (p.Trp1618Ter) SNV Pathogenic 99325 rs61752439 1:94486960-94486960 1:94021404-94021404 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) SNV Pathogenic 99331 rs61751403 1:94486895-94486895 1:94021339-94021339 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5018+2T>C SNV Pathogenic 99338 rs61750562 1:94486794-94486794 1:94021238-94021238 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del) deletion Pathogenic 99340 rs62646872 1:94485276-94485290 1:94019720-94019734 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5161_5162del (p.Thr1721fs) deletion Pathogenic 99349 rs61750566 1:94485172-94485173 1:94019616-94019617 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5196+1G>A SNV Pathogenic 99351 rs61751377 1:94485137-94485137 1:94019581-94019581 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5196+2T>C SNV Pathogenic 99355 rs61751405 1:94485136-94485136 1:94019580-94019580 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5222_5232del (p.Leu1741fs) deletion Pathogenic 99359 rs61750569 1:94481375-94481385 1:94015819-94015829 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter) SNV Pathogenic 99367 rs61750571 1:94480243-94480243 1:94014687-94014687 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp) SNV Pathogenic 99371 rs61751406 1:94480178-94480178 1:94014622-94014622 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5714+5G>A SNV Pathogenic 99403 rs61751407 1:94476351-94476351 1:94010795-94010795 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) deletion Pathogenic 99419 rs61751389 1:94473278-94473278 1:94007722-94007722 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser) SNV Pathogenic 99421 rs61750639 1:94473266-94473266 1:94007710-94007710 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6112C>T (p.Arg2038Trp) SNV Pathogenic 99430 rs61750643 1:94471032-94471032 1:94005476-94005476 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter) SNV Pathogenic 99431 rs61753038 1:94471026-94471026 1:94005470-94005470 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6236_6237TC[1] (p.Ser2080fs) short repeat Pathogenic 99439 rs281865382 1:94467457-94467458 1:94001901-94001902 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter) SNV Pathogenic 99460 rs61750654 1:94466426-94466426 1:94000870-94000870 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.666_678del (p.Lys223fs) deletion Pathogenic 99478 rs63749055 1:94564440-94564452 1:94098884-94098896 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6686T>C (p.Leu2229Pro) SNV Pathogenic 99481 rs61750659 1:94463460-94463460 1:93997904-93997904 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.731T>C (p.Leu244Pro) SNV Pathogenic 99500 rs62646864 1:94564387-94564387 1:94098831-94098831 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.768G>T (p.Val256=) SNV Pathogenic 99505 rs62645944 1:94564350-94564350 1:94098794-94098794 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.982G>T (p.Glu328Ter) SNV Pathogenic 99517 rs61751418 1:94546151-94546151 1:94080595-94080595 FND002 Fundus Dystrophy TULP1 NM_003322.6(TULP1):c.1495+1G>A SNV Pathogenic 99665 rs281865168 6:35467757-35467757 6:35499980-35499980 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.28G>A (p.Ala10Thr) SNV Pathogenic 99706 rs281865206 11:61719306-61719306 11:61951834-61951834 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.900G>C (p.Glu300Asp) SNV Pathogenic 99770 rs1805144 11:61727002-61727002 11:61959530-61959530 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.903T>G (p.Asp301Glu) SNV Pathogenic 99773 rs281865261 11:61727005-61727005 11:61959533-61959533 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.727G>A (p.Ala243Thr) SNV Pathogenic 99749 rs137853905 11:61725630-61725630 11:61958158-61958158 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.898G>A (p.Glu300Lys) SNV Pathogenic 99768 rs281865258 11:61727000-61727000 11:61959528-61959528 FND002 Fundus Dystrophy NYX NM_022567.2(NYX):c.85_108del (p.Arg29_Ala36del) deletion Pathogenic 99841 rs281865194 X:41332782-41332805 X:41473529-41473552 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter) SNV Pathogenic 99888 rs62636273 1:197398590-197398590 1:197429460-197429460 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.613_619del (p.Ile205fs) deletion Pathogenic 99913 rs62645752 1:197298091-197298097 1:197328961-197328967 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter) SNV Pathogenic 100577 rs137853907 4:16002140-16002140 4:16000517-16000517 FND002 Fundus Dystrophy KIZ NM_018474.6(KIZ):c.119_122del (p.Lys40fs) deletion Pathogenic 128243 rs587777377 20:21112767-21112770 20:21132126-21132129 FND002 Fundus Dystrophy TTLL5 NM_015072.5(TTLL5):c.1627G>A (p.Glu543Lys) SNV Pathogenic 139517 rs199882533 14:76231034-76231034 14:75764691-75764691 FND002 Fundus Dystrophy RDH12 NM_152443.3(RDH12):c.778del (p.Glu260fs) deletion Pathogenic 143163 rs527236099 14:68196025-68196025 14:67729308-67729308 FND002 Fundus Dystrophy RP1L1 NM_178857.6(RP1L1):c.1972C>T (p.Arg658Ter) SNV Pathogenic 143164 rs527236107 8:10469636-10469636 8:10612126-10612126 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter) SNV Pathogenic 143167 rs114342808 1:197390534-197390534 1:197421404-197421404 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu) SNV Pathogenic 143108 rs527236068 6:64791763-64791763 6:64081870-64081870 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.7919G>A (p.Trp2640Ter) SNV Pathogenic 143112 rs527236066 6:64472506-64472506 6:63762613-63762613 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter) SNV Pathogenic 143115 rs527236067 6:64431122-64431122 6:63721226-63721226 FND002 Fundus Dystrophy TOPORS NM_005802.5(TOPORS):c.2552_2553GA[1] (p.Glu852fs) short repeat Pathogenic 143130 rs527236116 9:32541966-32541969 9:32541968-32541971 FND002 Fundus Dystrophy SNRNP200 NM_014014.5(SNRNP200):c.2042G>A (p.Arg681His) SNV Pathogenic 143144 rs527236113 2:96958828-96958828 2:96293090-96293090 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.4510dup (p.Arg1504fs) duplication Pathogenic 166504 rs727503731 1:216348710-216348711 1:216175368-216175369 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter) SNV Pathogenic 177760 rs146733615 1:215814065-215814065 1:215640723-215640723 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.13374del (p.Glu4458fs) deletion Pathogenic 166428 rs727503715 1:215847879-215847879 1:215674537-215674537 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.6869dup (p.Asn2290fs) duplication Pathogenic 156386 rs587783017 12:88449443-88449444 12:88055666-88055667 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+521_1905+522del short repeat Pathogenic 183262 rs730882261 X:38145825-38145826 X:38286572-38286573 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.497G>A (p.Cys166Tyr) SNV Pathogenic 191208 rs786205579 6:42689576-42689576 6:42721838-42721838 FND002 Fundus Dystrophy PDE6B NM_000283.3(PDE6B):c.2193+1G>A SNV Pathogenic 167440 rs727504075 4:658734-658734 4:664945-664945 FND002 Fundus Dystrophy CHM NM_000390.4(CHM):c.116+1G>A SNV Pathogenic 189189 rs786204761 X:85282494-85282494 X:86027490-86027490 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.1214del (p.Asn405fs) deletion Pathogenic 189250 rs750228923 1:216497624-216497624 1:216324282-216324282 FND002 Fundus Dystrophy DRAM2 NM_178454.5(DRAM2):c.494G>A (p.Trp165Ter) SNV Pathogenic 192239 rs201422368 1:111663161-111663161 1:111120539-111120539 FND002 Fundus Dystrophy DRAM2 NM_178454.5(DRAM2):c.362A>T (p.His121Leu) SNV Pathogenic 192237 rs786205664 1:111663293-111663293 1:111120671-111120671 FND002 Fundus Dystrophy DRAM2 NM_178454.5(DRAM2):c.217_225del (p.Val73_Tyr75del) deletion Pathogenic 192236 rs786205663 1:111667478-111667486 1:111124856-111124864 FND002 Fundus Dystrophy DRAM2 NM_178454.5(DRAM2):c.140del (p.Gly47fs) deletion Pathogenic 192233 rs746559651 1:111668908-111668908 1:111126286-111126286 FND002 Fundus Dystrophy DRAM2 NM_178454.5(DRAM2):c.131G>A (p.Ser44Asn) SNV Pathogenic 192238 rs786205665 1:111674046-111674046 1:111131424-111131424 FND002 Fundus Dystrophy DRAM2 NM_178454.5(DRAM2):c.79T>C (p.Tyr27His) SNV Pathogenic 192235 rs786205662 1:111674098-111674098 1:111131476-111131476 FND002 Fundus Dystrophy DRAM2 NM_178454.5(DRAM2):c.61_63GCT[1] (p.Ala22del) short repeat Pathogenic 192234 rs786205661 1:111674111-111674113 1:111131489-111131491 FND002 Fundus Dystrophy BBS1 NM_024649.5(BBS1):c.887del (p.Ile296fs) deletion Pathogenic 193740 rs794727006 11:66290983-66290983 11:66523512-66523512 FND002 Fundus Dystrophy CACNA1F NM_001256789.3(CACNA1F):c.244C>T (p.Arg82Ter) SNV Pathogenic 195237 rs797044676 X:49088171-49088171 X:49231709-49231709 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) deletion Pathogenic 195936 rs761238771 6:65301404-65301410 6:64591511-64591517 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.541G>A (p.Glu181Lys) SNV Pathogenic 196282 rs775557680 3:129251104-129251104 3:129532261-129532261 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.8682-9A>G SNV Pathogenic 197510 rs372347027 1:216040521-216040521 1:215867179-215867179 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.11873_11874CA[1] (p.Gln3959fs) short repeat Pathogenic 198318 rs779791079 1:215901562-215901563 1:215728220-215728221 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.13316C>T (p.Thr4439Ile) SNV Pathogenic 198344 rs753330544 1:215847937-215847937 1:215674595-215674595 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.1175_1176AT[1] (p.Ile393fs) short repeat Pathogenic 208605 rs746174328 4:16010695-16010696 4:16009072-16009073 FND002 Fundus Dystrophy ALMS1 NM_015120.4(ALMS1):c.6436C>T (p.Arg2146Ter) SNV Pathogenic 210129 rs770558150 2:73680087-73680087 2:73452960-73452960 FND002 Fundus Dystrophy PEX1 NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro) SNV Pathogenic 217429 rs370483961 7:92136369-92136369 7:92507055-92507055 FND002 Fundus Dystrophy AHI1 NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter) SNV Pathogenic 217523 rs777668842 6:135776949-135776949 6:135455811-135455811 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.4448_4451AGAA[1] (p.Lys1484fs) short repeat Pathogenic 217628 rs780624853 12:88478612-88478615 12:88084835-88084838 FND002 Fundus Dystrophy FZD4 NM_012193.4(FZD4):c.313A>G (p.Met105Val) SNV Pathogenic 224624 rs80358284 11:86663485-86663485 11:86952443-86952443 FND002 Fundus Dystrophy TOPORS NM_005802.5(TOPORS):c.2539C>T (p.Arg847Ter) SNV Pathogenic 224754 rs869312183 9:32541984-32541984 9:32541986-32541986 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.1120C>T (p.Gln374Ter) SNV Pathogenic 224758 rs869312187 19:54631726-54631726 19:54128351-54128351 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+23C>G SNV Pathogenic 224756 rs869312185 X:38146324-38146324 X:38287071-38287071 FND002 Fundus Dystrophy BBS10 NM_024685.4(BBS10):c.145C>T (p.Arg49Trp) SNV Pathogenic 225010 rs768933093 12:76741994-76741994 12:76348214-76348214 FND002 Fundus Dystrophy OPA1 NM_015560.2(OPA1):c.2470C>T (p.Arg824Ter) SNV Pathogenic 225121 rs879255593 3:193380725-193380725 3:193662936-193662936 FND002 Fundus Dystrophy CNGA1 NM_000087.4(CNGA1):c.265del (p.Leu89fs) deletion Pathogenic 225315 rs749012133 4:47951884-47951884 4:47949867-47949867 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.9570+1G>A SNV Pathogenic 228418 rs760225886 1:215990338-215990338 1:215816996-215816996 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter) SNV Pathogenic 228417 rs766590491 1:216040454-216040454 1:215867112-215867112 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.5776+1G>A SNV Pathogenic 228414 rs876657731 1:216246438-216246438 1:216073096-216073096 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.1666del (p.Ile556fs) deletion Pathogenic 217622 rs727503855 12:88512305-88512305 12:88118528-88118528 FND002 Fundus Dystrophy PDE6B NM_000283.3(PDE6B):c.291C>A (p.Tyr97Ter) SNV Pathogenic 228390 rs876657718 4:619706-619706 4:625917-625917 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5312+1G>A SNV Pathogenic 236128 rs886044750 1:94481294-94481294 1:94015738-94015738 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4773+3A>G SNV Pathogenic 236122 rs759672616 1:94487399-94487399 1:94021843-94021843 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4253+5G>A SNV Pathogenic 236110 rs61750138 1:94496547-94496547 1:94030991-94030991 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser) SNV Pathogenic 236096 rs201471607 1:94512499-94512499 1:94046943-94046943 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2160+1G>T SNV Pathogenic 236090 rs61749427 1:94526092-94526092 1:94060536-94060536 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile) SNV Pathogenic 236087 rs61752398 1:94528248-94528248 1:94062692-94062692 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1086T>A (p.Tyr362Ter) SNV Pathogenic 236078 rs61752390 1:94546047-94546047 1:94080491-94080491 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.11549-1G>A SNV Pathogenic 236536 rs878853407 1:215914880-215914880 1:215741538-215741538 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.3158-2A>G SNV Pathogenic 236533 rs878853404 1:216380775-216380775 1:216207433-216207433 FND002 Fundus Dystrophy CERKL NM_201548.5(CERKL):c.967_968del (p.Met323fs) deletion Pathogenic 236491 rs750151209 2:182413512-182413513 2:181548785-181548786 FND002 Fundus Dystrophy LRAT NM_004744.5(LRAT):c.473G>A (p.Trp158Ter) SNV Pathogenic 236451 rs878853351 4:155665951-155665951 4:154744799-154744799 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter) SNV Pathogenic 236448 rs878853350 6:65016917-65016917 6:64307024-64307024 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.2826_2827del (p.Val944fs) deletion Pathogenic 236446 rs878853349 6:65612025-65612026 6:64902132-64902133 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) SNV Pathogenic 236447 rs143994166 6:66112400-66112400 6:65402507-65402507 FND002 Fundus Dystrophy LCA5 NM_001122769.3(LCA5):c.633_639del (p.Glu211fs) deletion Pathogenic 236493 rs878853382 6:80223010-80223016 6:79513293-79513299 FND002 Fundus Dystrophy CDH23 NM_022124.6(CDH23):c.7908C>G (p.Tyr2636Ter) SNV Pathogenic 236430 rs878853337 10:73565598-73565598 10:71805841-71805841 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.2749C>T (p.Gln917Ter) SNV Pathogenic 236414 rs878853326 8:55539191-55539191 8:54626631-54626631 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter) SNV Pathogenic 236487 rs878853378 11:76885842-76885842 11:77174796-77174796 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.2052+1_2052+2del deletion Pathogenic 236466 rs747835249 12:88508195-88508196 12:88114418-88114419 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter) SNV Pathogenic 236468 rs371496675 12:88510853-88510853 12:88117076-88117076 FND002 Fundus Dystrophy CNGB1 NM_001297.5(CNGB1):c.2544dup (p.Leu849fs) duplication Pathogenic 236511 rs760430056 16:57938727-57938728 16:57904823-57904824 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.3187_3188del (p.Gln1063fs) deletion Pathogenic 265288 rs886039450 1:216380743-216380744 1:216207401-216207402 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter) SNV Pathogenic 265012 rs145961131 1:94528164-94528164 1:94062608-94062608 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.655A>T (p.Arg219Ter) SNV Pathogenic 265008 rs757557272 1:94564463-94564463 1:94098907-94098907 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.1688G>A (p.Arg563His) SNV Pathogenic 265467 rs552069173 2:99013321-99013321 2:98396858-98396858 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.853C>T (p.Gln285Ter) SNV Pathogenic 280811 rs886041951 1:94548913-94548913 1:94083357-94083357 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.404_405delinsTT (p.Arg135Leu) indel Pathogenic 279882 rs886041233 3:129249761-129249762 3:129530918-129530919 FND002 Fundus Dystrophy CHM NM_000390.4(CHM):c.799C>T (p.Arg267Ter) SNV Pathogenic 279775 rs886041179 X:85213886-85213886 X:85958881-85958881 FND002 Fundus Dystrophy CHM NM_000390.4(CHM):c.525_526del (p.Glu177fs) deletion Pathogenic 279773 rs886041177 X:85218846-85218847 X:85963841-85963842 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+1406dup duplication Pathogenic 280089 rs886041376 X:38144934-38144935 X:38285681-38285682 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter) SNV Pathogenic 279751 rs780225183 12:88508313-88508313 12:88114536-88114536 FND002 Fundus Dystrophy CNGB1 NM_001297.5(CNGB1):c.3150del (p.Phe1051fs) deletion Pathogenic 280141 rs753353134 16:57931393-57931393 16:57897489-57897489 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.6794del (p.Pro2265fs) deletion Pathogenic 281325 rs758109813 6:64709008-64709008 6:63999115-63999115 FND002 Fundus Dystrophy BBS7 NM_176824.3(BBS7):c.710_711AG[1] (p.Arg238fs) short repeat Pathogenic 281626 rs760165634 4:122775862-122775865 4:121854707-121854710 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.908G>A (p.Arg303His) SNV Pathogenic 284411 rs371777049 1:216498882-216498882 1:216325540-216325540 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.1679del (p.Pro560fs) deletion Pathogenic 286104 rs773539640 1:216465678-216465678 1:216292336-216292336 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met) SNV Pathogenic 289310 rs201855602 1:94509026-94509026 1:94043470-94043470 FND002 Fundus Dystrophy RPE65 NM_000329.3(RPE65):c.893del (p.Lys298fs) deletion Pathogenic 372493 rs61752902 1:68904730-68904730 1:68439047-68439047 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs) duplication Pathogenic 372290 rs387906385 1:94508433-94508434 1:94042877-94042878 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.956dup (p.Asn319fs) duplication Pathogenic 372373 rs752179149 5:89923307-89923308 5:90627490-90627491 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.527+1G>T SNV Pathogenic 372779 rs1057517982 19:54626940-54626940 19:54123561-54123561 FND002 Fundus Dystrophy RS1 NM_003159.2(CDKL5):c.2797+1219C>T SNV Pathogenic 372496 rs62645894 X:18665429-18665429 X:18647309-18647309 FND002 Fundus Dystrophy CNGB3 NM_019098.4(CNGB3):c.819_826del (p.Arg274fs) deletion Pathogenic 374027 rs775796581 8:87679179-87679186 8:86666951-86666958 FND002 Fundus Dystrophy VPS13B NM_017890.4(VPS13B):c.4620del (p.Ser1541fs) deletion Pathogenic 374163 rs1057518939 8:100523652-100523652 8:99511424-99511424 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.11105G>A (p.Trp3702Ter) SNV Pathogenic 374674 rs1057519193 1:215933128-215933128 1:215759786-215759786 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5898+1G>A SNV Pathogenic 377408 rs61750638 1:94473790-94473790 1:94008234-94008234 FND002 Fundus Dystrophy IQCB1 NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs) duplication Pathogenic 403963 rs745340459 3:121514389-121514390 3:121795542-121795543 FND002 Fundus Dystrophy BBS10 NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter) SNV Pathogenic 417949 rs375413604 12:76740088-76740088 12:76346308-76346308 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.12152_12153insTT (p.Glu4051fs) insertion Pathogenic 418537 rs1064793289 1:215853632-215853633 1:215680290-215680291 FND002 Fundus Dystrophy PDE6B NM_000283.3(PDE6B):c.1860del (p.His620fs) deletion Pathogenic 419959 rs769671323 4:656916-656916 4:663127-663127 FND002 Fundus Dystrophy CNGB3 NM_019098.4(CNGB3):c.1781+1G>C SNV Pathogenic 427709 rs1375507464 8:87616320-87616320 8:86604092-86604092 FND002 Fundus Dystrophy CNGB3 NM_019098.4(CNGB3):c.1579-2A>G SNV Pathogenic 427705 rs772725807 8:87623901-87623901 8:86611673-86611673 FND002 Fundus Dystrophy CNGB3 NM_019098.4(CNGB3):c.1432C>T (p.Arg478Ter) SNV Pathogenic 427692 rs201320564 8:87641195-87641195 8:86628967-86628967 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.11389+3A>T SNV Pathogenic 427867 rs753886165 1:215931934-215931934 1:215758592-215758592 FND002 Fundus Dystrophy CFAP410 NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro) SNV Pathogenic 428573 rs140451304 21:45753071-45753071 21:44333188-44333188 FND002 Fundus Dystrophy CFAP410 NM_004928.3(CFAP410):c.331G>A (p.Val111Met) SNV Pathogenic 428582 rs555164150 21:45752958-45752958 21:44333075-44333075 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.2129A>T (p.Glu710Val) SNV Pathogenic 438073 rs145282040 1:197396584-197396584 1:197427454-197427454 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.3542dup (p.Cys1181fs) duplication Pathogenic 438079 rs1553263218 1:197404534-197404535 1:197435404-197435405 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.13576C>T (p.Arg4526Ter) SNV Pathogenic 438014 rs1003869920 1:215847677-215847677 1:215674335-215674335 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.9571-2A>G SNV Pathogenic 438033 rs751111524 1:215987248-215987248 1:215813906-215813906 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.4222C>T (p.Gln1408Ter) SNV Pathogenic 438021 rs746551311 1:216369924-216369924 1:216196582-216196582 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) SNV Pathogenic 438002 rs780308389 1:216498735-216498735 1:216325393-216325393 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5196+1137G>A SNV Pathogenic 438100 rs778234759 1:94484001-94484001 1:94018445-94018445 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4537del (p.Gln1513fs) deletion Pathogenic 438096 rs281865377 1:94495003-94495003 1:94029447-94029447 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1557C>A (p.Cys519Ter) SNV Pathogenic 438088 rs1553192726 1:94528871-94528871 1:94063315-94063315 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.885del (p.Leu296fs) deletion Pathogenic 438109 rs764759172 1:94546248-94546248 1:94080692-94080692 FND002 Fundus Dystrophy PCARE NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter) SNV Pathogenic 438048 rs367658438 2:29294126-29294126 2:29071260-29071260 FND002 Fundus Dystrophy PCARE NM_001029883.3(PCARE):c.758G>A (p.Trp253Ter) SNV Pathogenic 438049 rs750987123 2:29296370-29296370 2:29073504-29073504 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.3023-6_3030dup duplication Pathogenic 437941 rs754995805 3:100951827-100951828 3:101232983-101232984 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.1680T>A (p.Tyr560Ter) SNV Pathogenic 437938 rs758291149 3:100963495-100963495 3:101244651-101244651 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.730C>T (p.Arg244Ter) SNV Pathogenic 438215 rs373331232 4:16025003-16025003 4:16023380-16023380 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.436C>T (p.Arg146Ter) SNV Pathogenic 438214 rs780697796 4:16035000-16035000 4:16033377-16033377 FND002 Fundus Dystrophy PDE6A NM_000440.3(PDE6A):c.1630C>T (p.Arg544Trp) SNV Pathogenic 437982 rs144484128 5:149274844-149274844 5:149895281-149895281 FND002 Fundus Dystrophy PDE6A NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter) SNV Pathogenic 437984 rs146591309 5:149310680-149310680 5:149931117-149931117 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter) SNV Pathogenic 438168 rs777309662 5:90074375-90074375 5:90778558-90778558 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.259_266del (p.Asp87fs) deletion Pathogenic 437964 rs1554270834 6:42689807-42689814 6:42722069-42722076 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.5928-2A>G SNV Pathogenic 438200 rs181169439 6:65098735-65098735 6:64388842-64388842 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter) SNV Pathogenic 438194 rs760798455 6:65622398-65622398 6:64912505-64912505 FND002 Fundus Dystrophy LCA5 NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter) SNV Pathogenic 438153 rs866395428 6:80203350-80203350 6:79493633-79493633 FND002 Fundus Dystrophy TOPORS NM_005802.5(TOPORS):c.2552_2553GA[2] (p.Glu852fs) short repeat Pathogenic 438066 rs527236116 9:32541966-32541967 9:32541968-32541969 FND002 Fundus Dystrophy CDHR1 NM_033100.4(CDHR1):c.1463del (p.Gly488fs) deletion Pathogenic 438116 rs756678484 10:85970895-85970895 10:84211139-84211139 FND002 Fundus Dystrophy RGR NM_001012720.2(RGR):c.*74dup duplication Pathogenic 438065 rs1554824273 10:86018468-86018469 10:84258712-84258713 FND002 Fundus Dystrophy MFRP NM_031433.4(MFRP):c.955C>T (p.Gln319Ter) SNV Pathogenic 438224 rs1555037395 11:119215045-119215045 11:119344335-119344335 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.-37+1G>T SNV Pathogenic 438184 rs1555096248 11:61717900-61717900 11:61950428-61950428 FND002 Fundus Dystrophy CABP4 NM_145200.4(CABP4):c.673C>T (p.Arg225Ter) SNV Pathogenic 438047 rs531851447 11:67225863-67225863 11:67458392-67458392 FND002 Fundus Dystrophy NR2E3 NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu) SNV Pathogenic 438229 rs377257254 15:72105748-72105748 15:71813408-71813408 FND002 Fundus Dystrophy CNGB1 NM_001297.5(CNGB1):c.3139_3142dup (p.Ala1048fs) duplication Pathogenic 437975 rs756806434 16:57931400-57931401 16:57897496-57897497 FND002 Fundus Dystrophy CNGB1 NM_001297.5(CNGB1):c.2185C>T (p.Arg729Ter) SNV Pathogenic 437971 rs1352458826 16:57950065-57950065 16:57916161-57916161 FND002 Fundus Dystrophy ABHD12 NM_001042472.3(ABHD12):c.193C>T (p.Arg65Ter) SNV Pathogenic 438130 rs758316679 20:25319986-25319986 20:25339350-25339350 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+414AG[2] short repeat Pathogenic 438144 rs1555961832 X:38145928-38145929 X:38286675-38286676 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+331_1905+332del short repeat Pathogenic 438142 rs1555961852 X:38146015-38146016 X:38286762-38286763 FND002 Fundus Dystrophy RP2 NM_006915.3(RP2):c.352C>T (p.Arg118Cys) SNV Pathogenic 437944 rs1556318633 X:46713160-46713160 X:46853725-46853725 FND002 Fundus Dystrophy CFAP410 NM_004928.3(CFAP410):c.33_34insAGCTGCACAGCGTGCA (p.Ala12fs) insertion Pathogenic 438159 rs748531024 21:45759044-45759045 21:44339161-44339162 FND002 Fundus Dystrophy IFT140 NM_014714.4(IFT140):c.1451C>T (p.Thr484Met) SNV Pathogenic 446314 rs758052634 16:1630833-1630833 16:1580832-1580832 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.319C>T (p.Arg107Ter) SNV Pathogenic 488674 rs765429911 1:94574256-94574256 1:94108700-94108700 FND002 Fundus Dystrophy CACNA1F NM_001256789.3(CACNA1F):c.1504C>T (p.Arg502Ter) SNV Pathogenic 497205 rs1365490247 X:49082518-49082518 X:49226056-49226056 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) SNV Pathogenic 497256 rs141386891 2:99012912-99012912 2:98396449-98396449 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) SNV Pathogenic 497414 rs534534437 1:216462717-216462717 1:216289375-216289375 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.667C>T (p.Arg223Trp) SNV Pathogenic 498768 rs138958917 2:99008427-99008427 2:98391964-98391964 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.5944G>A (p.Gly1982Arg) SNV Pathogenic 500416 rs761469964 11:76919562-76919562 11:77208517-77208517 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.1234del (p.Tyr412fs) deletion Pathogenic 500442 rs1460604134 4:16010639-16010639 4:16009016-16009016 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5899-2del deletion Pathogenic 502303 rs1553187162 1:94473298-94473298 1:94007742-94007742 FND002 Fundus Dystrophy LRP5 NM_002335.4(LRP5):c.2718_2721del (p.Met907fs) deletion Pathogenic 520844 rs1244761864 11:68181369-68181372 11:68413901-68413904 FND002 Fundus Dystrophy LRP5 NM_002335.4(LRP5):c.3232C>T (p.Arg1078Ter) SNV Pathogenic 520845 rs765402802 11:68191161-68191161 11:68423693-68423693 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.1623dup (p.Lys542fs) duplication Pathogenic 521129 rs782077721 11:76873960-76873961 11:77162914-77162915 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.7524del (p.Arg2509fs) deletion Pathogenic 517494 rs751176116 1:216073487-216073487 1:215900145-215900145 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.1673G>A (p.Trp558Ter) SNV Pathogenic 522342 rs201823777 6:66044966-66044966 6:65335073-65335073 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.612C>G (p.Tyr204Ter) SNV Pathogenic 523772 rs1554269081 6:42672319-42672319 6:42704581-42704581 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.828del (p.Glu277fs) deletion Pathogenic 523947 rs1555225566 12:88523495-88523495 12:88129718-88129718 FND002 Fundus Dystrophy CNGA1 NM_000087.4(CNGA1):c.94C>T (p.Arg32Ter) SNV Pathogenic 548707 rs199636364 4:47954625-47954625 4:47952608-47952608 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.14977_14978del (p.Phe4993fs) deletion Pathogenic 555201 rs747160949 1:215812571-215812572 1:215639229-215639230 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.14131C>T (p.Gln4711Ter) SNV Pathogenic 554236 rs747063294 1:215844316-215844316 1:215670974-215670974 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.13822C>T (p.Arg4608Ter) SNV Pathogenic 557745 rs367674026 1:215844625-215844625 1:215671283-215671283 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.9270C>A (p.Cys3090Ter) SNV Pathogenic 557177 rs779572631 1:216011434-216011434 1:215838092-215838092 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.13207_13208del (p.Gly4403fs) deletion Pathogenic 558124 rs746447649 1:215848045-215848046 1:215674703-215674704 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.8079G>A (p.Trp2693Ter) SNV Pathogenic 553648 rs1553273330 1:216061912-216061912 1:215888570-215888570 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.5399G>A (p.Trp1800Ter) SNV Pathogenic 556449 rs1553299079 1:216251604-216251604 1:216078262-216078262 FND002 Fundus Dystrophy USH2A NM_007123.5(USH2A):c.545_546del (p.Lys182fs) deletion Pathogenic 556324 rs780779563 1:216591961-216591962 1:216418619-216418620 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.2610C>A (p.Cys870Ter) SNV Pathogenic 557167 rs767078782 1:216420126-216420126 1:216246784-216246784 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.2168-1G>C SNV Pathogenic 556842 rs748961218 1:216420569-216420569 1:216247227-216247227 FND002 Fundus Dystrophy USH2A NM_206933.2(USH2A):c.852_853delGA (p.Glu284Aspfs) short repeat Pathogenic 553452 rs1188025733 1:216498937-216498938 1:216325595-216325596 FND002 Fundus Dystrophy FAM161A NM_001201543.2(FAM161A):c.1501del (p.Cys501fs) deletion Pathogenic 552429 rs767414973 2:62066638-62066638 2:61839503-61839503 FND002 Fundus Dystrophy ALMS1 NM_015120.4(ALMS1):c.7375_7376del (p.Thr2458_Asp2459insTer) deletion Pathogenic 550572 rs1225343345 2:73681025-73681026 2:73453898-73453899 FND002 Fundus Dystrophy ALMS1 NM_015120.4(ALMS1):c.11618_11619del short repeat Pathogenic 553694 rs1476205467 2:73826593-73826594 2:73599466-73599467 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.187C>T (p.Arg63Ter) SNV Pathogenic 556744 rs781223647 1:216595492-216595492 1:216422150-216422150 FND002 Fundus Dystrophy BBS10 NM_024685.4(BBS10):c.235dup (p.Thr79fs) duplication Pathogenic 554591 rs760693838 12:76741529-76741530 12:76347749-76347750 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4539+2001G>A SNV Pathogenic 560421 rs1457937638 1:94493000-94493000 1:94027444-94027444 FND002 Fundus Dystrophy IQCB1 NM_001023570.4(IQCB1):c.1632_1638dup (p.Ala547fs) duplication Pathogenic 560465 rs767295178 3:121489350-121489351 3:121770503-121770504 FND002 Fundus Dystrophy IQCB1 NM_001023570.4(IQCB1):c.994C>T (p.Arg332Ter) SNV Pathogenic 560468 rs1189889920 3:121509055-121509055 3:121790208-121790208 FND002 Fundus Dystrophy TOPORS NM_005802.5(TOPORS):c.2546_2549CAGA[1] (p.Asp850fs) short repeat Pathogenic 560511 rs1563983151 9:32541970-32541973 9:32541972-32541975 FND002 Fundus Dystrophy SLC24A1 NM_004727.3(SLC24A1):c.754_755del (p.Met252fs) deletion Pathogenic 560508 rs777989874 15:65917172-65917173 15:65624834-65624835 FND002 Fundus Dystrophy CRX NM_000554.6(CRX):c.205C>T (p.Arg69Cys) SNV Pathogenic 560444 rs771551785 19:48339604-48339604 19:47836347-47836347 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+1042G>T SNV Pathogenic 560502 rs1569235803 X:38145305-38145305 X:38286052-38286052 FND002 Fundus Dystrophy WDR19 NM_025132.4(WDR19):c.14T>C (p.Phe5Ser) SNV Pathogenic 562401 rs1237494778 4:39187353-39187353 4:39185733-39185733 FND002 Fundus Dystrophy IQCB1 NM_001023570.4(IQCB1):c.1504C>T (p.Arg502Ter) SNV Pathogenic 569196 rs1280238814 3:121491467-121491467 3:121772620-121772620 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.508A>T (p.Lys170Ter) SNV Pathogenic 578618 rs772170760 12:88524330-88524330 12:88130553-88130553 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.154G>A (p.Gly52Arg) SNV Pathogenic 593841 rs281865296 X:38182652-38182652 X:38323399-38323399 FND002 Fundus Dystrophy RPE65 NM_000329.3(RPE65):c.1067dup (p.Asn356fs) duplication Pathogenic 596673 rs281865520 1:68903930-68903931 1:68438247-68438248 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter) SNV Pathogenic 619215 rs1471994744 6:66063502-66063502 6:65353609-65353609 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.15089C>A (p.Ser5030Ter) SNV Pathogenic 620106 rs758660532 1:215808009-215808009 1:215634667-215634667 FND002 Fundus Dystrophy CDH23 NM_022124.6(CDH23):c.8803C>T (p.Arg2935Ter) SNV Pathogenic 620124 rs1190307769 10:73569657-73569657 10:71809900-71809900 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+537_1905+540del deletion Pathogenic 620582 rs1569237077 X:38145807-38145810 X:38286554-38286557 FND002 Fundus Dystrophy CHM NM_000390.2:c.315_318del deletion Pathogenic 860520 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) SNV Pathogenic 635155 rs150412614 1:197396685-197396685 1:197427555-197427555 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.934_936ATC[2] (p.Ile314del) short repeat Pathogenic 635158 2:99012565-99012567 2:98396102-98396104 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.8254G>A (p.Gly2752Arg) SNV Pathogenic 636127 1:216052410-216052410 1:215879068-215879068 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6319C>T (p.Arg2107Cys) SNV Pathogenic 635988 1:94466625-94466625 1:94001069-94001069 FND002 Fundus Dystrophy PDE6B NM_000283.3(PDE6B):c.385G>A (p.Glu129Lys) SNV Pathogenic 636062 4:619800-619800 4:626011-626011 FND002 Fundus Dystrophy NR2E3 NM_014249.4(NR2E3):c.481del (p.Thr161fs) deletion Pathogenic 636047 15:72104426-72104426 15:71812086-71812086 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1234C>T (p.Arg412Ter) SNV Pathogenic 636102 X:38158220-38158220 X:38298967-38298967 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6386+1G>A SNV Pathogenic 635989 1:94466557-94466557 1:94001001-94001001 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.5587-1G>C SNV Pathogenic 636006 12:88471122-88471122 12:88077345-88077345 FND002 Fundus Dystrophy EYS NM_001142800.1:c.(2023+1_2024-1)_(3443+1_3444-1)del deletion Pathogenic 636132 FND002 Fundus Dystrophy RDH12 NM_152443.3(RDH12):c.883C>T (p.Arg295Ter) SNV Pathogenic 655601 14:68200497-68200497 14:67733780-67733780 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.2380C>T (p.Arg794Ter) SNV Pathogenic 650440 6:65655687-65655687 6:64945794-64945794 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.830G>A (p.Arg277His) SNV Pathogenic 800983 2:99012463-99012463 2:98396000-98396000 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.2809+1G>A SNV Pathogenic 801616 1:216419926-216419926 1:216246584-216246584 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.1142-1G>A SNV Pathogenic 809626 4:16010732-16010732 4:16009109-16009109 FND002 Fundus Dystrophy GUCY2D NM_000180.4(GUCY2D):c.2513G>C (p.Arg838Pro) SNV Pathogenic 811743 17:7918019-7918019 17:8014701-8014701 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr) SNV Pathogenic 812296 1:197297936-197297936 1:197328806-197328806 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.834del (p.Asp279fs) deletion Pathogenic 812208 1:94548932-94548932 1:94083376-94083376 FND002 Fundus Dystrophy TULP1 NM_003322.6(TULP1):c.1047T>G (p.Asn349Lys) SNV Pathogenic 812440 6:35473583-35473583 6:35505806-35505806 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.2167G>T (p.Gly723Ter) SNV Pathogenic 812400 8:55538609-55538609 8:54626049-54626049 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1237_1238AG[3] (p.Arg415fs) short repeat Pathogenic 812418 X:38158210-38158211 X:38298957-38298958 FND002 Fundus Dystrophy RPE65 NM_000329.3(RPE65):c.1084C>T (p.Gln362Ter) SNV Pathogenic 812758 1:68903914-68903914 1:68438231-68438231 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.29-1G>T SNV Pathogenic 813233 X:38182778-38182778 X:38323525-38323525 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val) SNV Pathogenic 846589 1:197404007-197404007 1:197434877-197434877 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1496G>A (p.Trp499Ter) SNV Pathogenic 848932 1:94543304-94543304 1:94077748-94077748 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.93G>A (p.Trp31Ter) SNV Pathogenic 861376 1:94578596-94578596 1:94113040-94113040 FND002 Fundus Dystrophy NMNAT1 NM_022787.4(NMNAT1):c.709C>T (p.Arg237Cys) SNV Pathogenic 845745 1:10042628-10042628 1:9982570-9982570 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.247_250dup (p.Ser84fs) duplication Pathogenic 854791 1:94577045-94577046 1:94111489-94111490 FND002 Fundus Dystrophy CERKL NM_201548.5(CERKL):c.1462G>T (p.Glu488Ter) SNV Pathogenic 860317 2:182403895-182403895 2:181539168-181539168 FND002 Fundus Dystrophy PCARE NM_001029883.3(PCARE):c.3604C>T (p.Arg1202Ter) SNV Pathogenic 839525 2:29293524-29293524 2:29070658-29070658 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.1315C>T (p.Arg439Trp) SNV Pathogenic 860883 2:99012948-99012948 2:98396485-98396485 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.1706G>A (p.Arg569His) SNV Pathogenic 861698 2:99013339-99013339 2:98396876-98396876 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.379C>T (p.Arg127Ter) SNV Pathogenic 845633 3:101023112-101023112 3:101304268-101304268 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.512C>T (p.Pro171Leu) SNV Pathogenic 862966 3:129249869-129249869 3:129531026-129531026 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.642T>A (p.Tyr214Ter) SNV Pathogenic 836421 4:16025970-16025970 4:16024347-16024347 FND002 Fundus Dystrophy PDE6B NM_001145292.1(PDE6B):c.-28C>A SNV Pathogenic 856142 4:647739-647739 4:653950-653950 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter) SNV Pathogenic 853127 6:64436538-64436538 6:63726645-63726645 FND002 Fundus Dystrophy BBS9 NM_198428.3(BBS9):c.832C>T (p.Arg278Ter) SNV Pathogenic 856112 7:33312753-33312753 7:33273141-33273141 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.2374A>T (p.Lys792Ter) SNV Pathogenic 853663 8:55538816-55538816 8:54626256-54626256 FND002 Fundus Dystrophy RPGRIP1 NM_020366.3(RPGRIP1):c.1892A>G (p.His631Arg) SNV Pathogenic 834237 14:21792906-21792906 14:21324747-21324747 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.4354C>T (p.Gln1452Ter) SNV Pathogenic 852300 11:76908556-76908556 11:77197511-77197511 FND002 Fundus Dystrophy TIMP3 NM_000362.5(TIMP3):c.113C>G (p.Ser38Cys) SNV Pathogenic 843268 22:33198100-33198100 22:32802114-32802114 FND002 Fundus Dystrophy RP2 NM_006915.3(RP2):c.409_411del (p.Ile137del) deletion Pathogenic 860467 X:46713217-46713219 X:46853782-46853784 FND002 Fundus Dystrophy CACNA1F NM_001256789.3(CACNA1F):c.3862C>T (p.Arg1288Ter) SNV Pathogenic 853468 X:49069207-49069207 X:49212747-49212747 FND002 Fundus Dystrophy CDHR1 NM_033100.4(CDHR1):c.1485+2T>C SNV Pathogenic 847679 10:85970923-85970923 10:84211167-84211167 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.859-9T>C SNV Pathogenic 859348 1:94546283-94546283 1:94080727-94080727 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.1125C>G (p.Tyr375Ter) SNV Pathogenic 866778 1:197326097-197326097 1:197356967-197356967 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg) SNV Pathogenic 866829 1:197390387-197390387 1:197421257-197421257 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.1436T>C (p.Leu479Pro) SNV Pathogenic 866833 1:197390394-197390394 1:197421264-197421264 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.2416G>T (p.Glu806Ter) SNV Pathogenic 866373 1:197396871-197396871 1:197427741-197427741 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.1772_1775del (p.Cys591fs) deletion Pathogenic 867150 1:197390728-197390731 1:197421598-197421601 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys) SNV Pathogenic 865928 1:197411408-197411408 1:197442278-197442278 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.12703C>T (p.Gln4235Ter) SNV Pathogenic 865933 1:215848550-215848550 1:215675208-215675208 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.7468del (p.Ser2490fs) deletion Pathogenic 865988 1:216073543-216073543 1:215900201-215900201 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.5506C>A (p.Pro1836Thr) SNV Pathogenic 866608 1:216251497-216251497 1:216078155-216078155 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.4707T>G (p.Tyr1569Ter) SNV Pathogenic 867170 1:216270476-216270476 1:216097134-216097134 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.4576G>A (p.Gly1526Arg) SNV Pathogenic 867207 1:216348645-216348645 1:216175303-216175303 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.4384del (p.Thr1462fs) deletion Pathogenic 865950 1:216363577-216363577 1:216190235-216190235 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro) SNV Pathogenic 866375 1:216370013-216370013 1:216196671-216196671 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.773_774AG[1] (p.Ser259fs) short repeat Pathogenic 866168 1:216538303-216538304 1:216364961-216364962 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.98C>A (p.Ser33Ter) SNV Pathogenic 865905 1:216595581-216595581 1:216422239-216422239 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6191C>T (p.Ala2064Val) SNV Pathogenic 865907 1:94467505-94467505 1:94001949-94001949 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6095A>G (p.His2032Arg) SNV Pathogenic 867188 1:94471049-94471049 1:94005493-94005493 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1995C>A (p.Tyr665Ter) SNV Pathogenic 866511 1:94526258-94526258 1:94060702-94060702 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1852G>A (p.Gly618Arg) SNV Pathogenic 867085 1:94528218-94528218 1:94062662-94062662 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.913C>T (p.Gln305Ter) SNV Pathogenic 866626 1:94546220-94546220 1:94080664-94080664 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp) SNV Pathogenic 866516 1:94546265-94546265 1:94080709-94080709 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1302del (p.Gln437fs) deletion Pathogenic 866585 1:94544200-94544200 1:94078644-94078644 FND002 Fundus Dystrophy NMNAT1 NM_022787.4(NMNAT1):c.293T>G (p.Val98Gly) SNV Pathogenic 866255 1:10035827-10035827 1:9975769-9975769 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.1744_1751delinsT (p.Val581_Ile582insTer) indel Pathogenic 867009 2:112760722-112760729 2:112003145-112003152 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.2179C>T (p.Arg727Ter) SNV Pathogenic 866075 2:112777089-112777089 2:112019512-112019512 FND002 Fundus Dystrophy CERKL NM_201548.5(CERKL):c.375C>G (p.Cys125Trp) SNV Pathogenic 866659 2:182468670-182468670 2:181603943-181603943 FND002 Fundus Dystrophy CERKL NM_201548.5(CERKL):c.1404del (p.Glu468_Val469insTer) deletion Pathogenic 866631 2:182403953-182403953 2:181539226-181539226 FND002 Fundus Dystrophy PCARE NM_001029883.3(PCARE):c.802C>T (p.Gln268Ter) SNV Pathogenic 866617 2:29296326-29296326 2:29073460-29073460 FND002 Fundus Dystrophy PCARE NM_001029883.3(PCARE):c.1709_1728del (p.Gly570fs) deletion Pathogenic 866727 2:29295400-29295419 2:29072534-29072553 FND002 Fundus Dystrophy PCARE NM_001029883.3(PCARE):c.1525del (p.Thr509fs) deletion Pathogenic 866909 2:29295603-29295603 2:29072737-29072737 FND002 Fundus Dystrophy ALMS1 NM_001378454.1(ALMS1):c.1006_1007TG[1] (p.Cys336_Asp337delinsTer) short repeat Pathogenic 865951 2:73651799-73651800 2:73424671-73424672 FND002 Fundus Dystrophy ALMS1 NM_001378454.1(ALMS1):c.4934C>A (p.Ser1645Ter) SNV Pathogenic 867044 2:73678588-73678588 2:73451461-73451461 FND002 Fundus Dystrophy ALMS1 NM_001378454.1(ALMS1):c.7531C>T (p.Arg2511Ter) SNV Pathogenic 866836 2:73681185-73681185 2:73454058-73454058 FND002 Fundus Dystrophy ALMS1 NM_001378454.1(ALMS1):c.11413C>T (p.Arg3805Ter) SNV Pathogenic 865871 2:73800417-73800417 2:73573290-73573290 FND002 Fundus Dystrophy CNNM4 NM_020184.4(CNNM4):c.613_621delinsA (p.Gly205fs) indel Pathogenic 867091 2:97427349-97427357 2:96761612-96761620 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.572G>A (p.Cys191Tyr) SNV Pathogenic 866560 2:99008332-99008332 2:98391869-98391869 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.668G>A (p.Arg223Gln) SNV Pathogenic 865874 2:99008428-99008428 2:98391965-98391965 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.1021T>C (p.Ser341Pro) SNV Pathogenic 866559 2:99012654-99012654 2:98396191-98396191 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.1694C>T (p.Thr565Met) SNV Pathogenic 867082 2:99013327-99013327 2:98396864-98396864 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.3229dup (p.Cys1077fs) duplication Pathogenic 866639 3:100951628-100951629 3:101232784-101232785 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.152G>T (p.Gly51Val) SNV Pathogenic 866399 3:129247728-129247728 3:129528885-129528885 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.328T>C (p.Cys110Arg) SNV Pathogenic 867081 3:129247904-129247904 3:129529061-129529061 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.341G>T (p.Gly114Val) SNV Pathogenic 866113 3:129247917-129247917 3:129529074-129529074 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.512C>A (p.Pro171Gln) SNV Pathogenic 866418 3:129249869-129249869 3:129531026-129531026 FND002 Fundus Dystrophy BBS7 NM_176824.3(BBS7):c.1002del (p.Asn335fs) deletion Pathogenic 866308 4:122768594-122768594 4:121847439-121847439 FND002 Fundus Dystrophy BBS12 NM_152618.3(BBS12):c.1891_1892TC[1] (p.Pro632fs) short repeat Pathogenic 866623 4:123664937-123664938 4:122743782-122743783 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.1697dup (p.Asn566fs) duplication Pathogenic 866977 4:15995679-15995680 4:15994056-15994057 FND002 Fundus Dystrophy CYP4V2 NM_207352.4(CYP4V2):c.694C>T (p.Arg232Ter) SNV Pathogenic 866939 4:187120130-187120130 4:186198976-186198976 FND002 Fundus Dystrophy CNGA1 NM_001375386.1(CNGA1):c.1270C>T (p.Arg424Ter) SNV Pathogenic 866760 4:47939241-47939241 4:47937224-47937224 FND002 Fundus Dystrophy PDE6B NM_001145291.1(PDE6B):c.1954C>T (p.Gln652Ter) SNV Pathogenic 866296 4:657592-657592 4:663803-663803 FND002 Fundus Dystrophy PDE6B NM_001145291.1(PDE6B):c.2115_2116delinsAT (p.Lys706Ter) indel Pathogenic 865916 4:657996-657997 4:664207-664208 FND002 Fundus Dystrophy PDE6B NM_001145291.1(PDE6B):c.2116A>T (p.Lys706Ter) SNV Pathogenic 866937 4:657997-657997 4:664208-664208 FND002 Fundus Dystrophy PDE6A NM_000440.3(PDE6A):c.2302G>T (p.Glu768Ter) SNV Pathogenic 865985 5:149245789-149245789 5:149866226-149866226 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.10088_10091del (p.Val3363fs) deletion Pathogenic 866776 5:90021397-90021400 5:90725580-90725583 FND002 Fundus Dystrophy TULP1 NM_003322.6(TULP1):c.525dup (p.Pro176fs) duplication Pathogenic 866284 6:35477679-35477680 6:35509902-35509903 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.774_775del (p.Tyr258_Ser259delinsTer) deletion Pathogenic 866423 6:42672156-42672157 6:42704418-42704419 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.934del (p.Val312fs) deletion Pathogenic 865787 6:42666140-42666140 6:42698402-42698402 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.9378_9382AATTA[1] (p.Lys3128fs) short repeat Pathogenic 865915 6:64430540-64430544 6:63720644-63720648 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.32dup (p.Met12fs) duplication Pathogenic 866202 6:66205271-66205272 6:65495378-65495379 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.2105_2108del (p.Ile702fs) deletion Pathogenic 866555 8:55538545-55538548 8:54625985-54625988 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.2200del (p.Ser734fs) deletion Pathogenic 866005 8:55538639-55538639 8:54626079-54626079 FND002 Fundus Dystrophy RP1L1 NM_178857.6(RP1L1):c.1189C>T (p.Arg397Ter) SNV Pathogenic 865995 8:10470419-10470419 8:10612909-10612909 FND002 Fundus Dystrophy KCNV2 NM_133497.4(KCNV2):c.339C>A (p.Cys113Ter) SNV Pathogenic 867070 9:2718078-2718078 9:2718078-2718078 FND002 Fundus Dystrophy KCNV2 NM_133497.4(KCNV2):c.529T>C (p.Cys177Arg) SNV Pathogenic 866393 9:2718268-2718268 9:2718268-2718268 FND002 Fundus Dystrophy PHYH NM_006214.4(PHYH):c.530A>G (p.Asp177Gly) SNV Pathogenic 866618 10:13330508-13330508 10:13288508-13288508 FND002 Fundus Dystrophy CDH23 NM_022124.6(CDH23):c.6393del (p.Ile2132fs) deletion Pathogenic 866405 10:73553077-73553077 10:71793320-71793320 FND002 Fundus Dystrophy BBS1 NM_024649.5(BBS1):c.1113_1114TG[3] (p.Ala372fs) short repeat Pathogenic 867194 11:66293595-66293596 11:66526124-66526125 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.5749G>T (p.Glu1917Ter) SNV Pathogenic 866518 11:76918340-76918340 11:77207295-77207295 FND002 Fundus Dystrophy RDH5 NM_002905.5(RDH5):c.625C>T (p.Arg209Ter) SNV Pathogenic 866580 12:56117725-56117725 12:55723941-55723941 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.7318_7319CT[4] (p.Leu2441fs) short repeat Pathogenic 866473 12:88443079-88443080 12:88049302-88049303 FND002 Fundus Dystrophy RDH12 NM_152443.3(RDH12):c.446T>C (p.Leu149Pro) SNV Pathogenic 866614 14:68192870-68192870 14:67726153-67726153 FND002 Fundus Dystrophy RDH12 NM_152443.3(RDH12):c.599A>G (p.Tyr200Cys) SNV Pathogenic 867114 14:68193848-68193848 14:67727131-67727131 FND002 Fundus Dystrophy RDH12 NM_152443.3(RDH12):c.715dup (p.Arg239fs) duplication Pathogenic 865754 14:68195962-68195963 14:67729245-67729246 FND002 Fundus Dystrophy NR2E3 NM_014249.4(NR2E3):c.290G>A (p.Arg97His) SNV Pathogenic 867089 15:72104150-72104150 15:71811810-71811810 FND002 Fundus Dystrophy NR2E3 NM_014249.4(NR2E3):c.309C>A (p.Cys103Ter) SNV Pathogenic 867206 15:72104169-72104169 15:71811829-71811829 FND002 Fundus Dystrophy RLBP1 NM_000326.5(RLBP1):c.333T>G (p.Tyr111Ter) SNV Pathogenic 866938 15:89760364-89760364 15:89217133-89217133 FND002 Fundus Dystrophy CNGB1 NM_001297.5(CNGB1):c.2527dup (p.Leu843fs) duplication Pathogenic 866553 16:57938744-57938745 16:57904840-57904841 FND002 Fundus Dystrophy CNGB1 NM_001297.5(CNGB1):c.2495A>G (p.Tyr832Cys) SNV Pathogenic 866552 16:57938777-57938777 16:57904873-57904873 FND002 Fundus Dystrophy CDH3 NM_001793.6(CDH3):c.307C>T (p.Arg103Ter) SNV Pathogenic 866071 16:68712097-68712097 16:68678194-68678194 FND002 Fundus Dystrophy PRPF8 NM_006445.4(PRPF8):c.7000T>A (p.Tyr2334Asn) SNV Pathogenic 865924 17:1554104-1554104 17:1650810-1650810 FND002 Fundus Dystrophy PRPF8 NM_006445.4(PRPF8):c.6901C>T (p.Pro2301Ser) SNV Pathogenic 867220 17:1554203-1554203 17:1650909-1650909 FND002 Fundus Dystrophy PRCD NM_001077620.3(PRCD):c.61_64del (p.Asn21fs) deletion Pathogenic 866216 17:74536282-74536285 17:76540200-76540203 FND002 Fundus Dystrophy CRX NM_000554.6(CRX):c.239A>G (p.Glu80Gly) SNV Pathogenic 865803 19:48339638-48339638 19:47836381-47836381 FND002 Fundus Dystrophy CRX NM_000554.6(CRX):c.313C>T (p.Gln105Ter) SNV Pathogenic 866673 19:48342637-48342637 19:47839380-47839380 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.330_333del (p.His111fs) deletion Pathogenic 866645 19:54625880-54625883 19:54122501-54122504 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.636del (p.Met212fs) deletion Pathogenic 865753 19:54627236-54627236 19:54123857-54123857 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.895T>C (p.Cys299Arg) SNV Pathogenic 865976 19:54629942-54629942 19:54126567-54126567 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.1084del (p.Lys361_Met362insTer) deletion Pathogenic 867171 19:54631690-54631690 19:54128315-54128315 FND002 Fundus Dystrophy MKKS NM_170784.3(MKKS):c.775del (p.Thr259fs) deletion Pathogenic 866319 20:10393388-10393388 20:10412740-10412740 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+1187del deletion Pathogenic 866381 X:38145160-38145160 X:38285907-38285907 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+1134_1905+1135del deletion Pathogenic 866408 X:38145212-38145213 X:38285959-38285960 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+1122_1905+1123del deletion Pathogenic 867211 X:38145224-38145225 X:38285971-38285972 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+987_1905+988del deletion Pathogenic 867138 X:38145359-38145360 X:38286106-38286107 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+962del deletion Pathogenic 866004 X:38145385-38145385 X:38286132-38286132 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+1012G>T SNV Pathogenic 866129 X:38145335-38145335 X:38286082-38286082 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+858_1905+859del deletion Pathogenic 866114 X:38145488-38145489 X:38286235-38286236 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+809_1905+810del deletion Pathogenic 865798 X:38145537-38145538 X:38286284-38286285 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+790G>T SNV Pathogenic 866316 X:38145557-38145557 X:38286304-38286304 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+760G>T SNV Pathogenic 866162 X:38145587-38145587 X:38286334-38286334 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+750_1905+751del deletion Pathogenic 866097 X:38145596-38145597 X:38286343-38286344 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+661dup duplication Pathogenic 867213 X:38145683-38145684 X:38286430-38286431 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+643del deletion Pathogenic 865913 X:38145704-38145704 X:38286451-38286451 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+638del deletion Pathogenic 866274 X:38145709-38145709 X:38286456-38286456 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+611_1905+615del deletion Pathogenic 865886 X:38145732-38145736 X:38286479-38286483 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+612_1905+613del deletion Pathogenic 867074 X:38145734-38145735 X:38286481-38286482 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+696_1905+697del deletion Pathogenic 866765 X:38145650-38145651 X:38286397-38286398 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+507_1905+508del short repeat Pathogenic 865786 X:38145839-38145840 X:38286586-38286587 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+498_1905+501del deletion Pathogenic 867143 X:38145846-38145849 X:38286593-38286596 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+472C>T SNV Pathogenic 866327 X:38145875-38145875 X:38286622-38286622 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+435del deletion Pathogenic 865990 X:38145912-38145912 X:38286659-38286659 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+391_1905+394del short repeat Pathogenic 866644 X:38145953-38145956 X:38286700-38286703 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+378_1905+379del deletion Pathogenic 865977 X:38145968-38145969 X:38286715-38286716 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+355G>T SNV Pathogenic 866844 X:38145992-38145992 X:38286739-38286739 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+352_1905+355del short repeat Pathogenic 865892 X:38145992-38145995 X:38286739-38286742 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+344_1905+348del short repeat Pathogenic 865941 X:38145999-38146003 X:38286746-38286750 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+241G>T SNV Pathogenic 866993 X:38146106-38146106 X:38286853-38286853 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1685_1686del (p.His562fs) deletion Pathogenic 866755 X:38147181-38147182 X:38287928-38287929 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1345C>T (p.Arg449Ter) SNV Pathogenic 866558 X:38156606-38156606 X:38297353-38297353 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.679C>T (p.Gln227Ter) SNV Pathogenic 866642 X:38169967-38169967 X:38310714-38310714 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6005+1G>A SNV Pathogenic 865769 1:94473189-94473189 1:94007633-94007633 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4849-1G>A SNV Pathogenic 866320 1:94486966-94486966 1:94021410-94021410 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4668-2A>G SNV Pathogenic 865963 1:94487509-94487509 1:94021953-94021953 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3523-2A>G SNV Pathogenic 866764 1:94505685-94505685 1:94040129-94040129 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.3317-2A>G SNV Pathogenic 866916 1:216373465-216373465 1:216200123-216200123 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.11548+2T>G SNV Pathogenic 867169 1:215916517-215916517 1:215743175-215743175 FND002 Fundus Dystrophy CHM NM_000390.4(CHM):c.971T>G (p.Leu324Ter) SNV Pathogenic 866369 X:85211353-85211353 X:85956348-85956348 FND002 Fundus Dystrophy CHM NM_000390.4(CHM):c.1358_1359delinsG (p.Ile452_Ser453insTer) indel Pathogenic 866313 X:85155705-85155706 X:85900700-85900701 FND002 Fundus Dystrophy CHM NM_000390.4(CHM):c.1363del (p.Ala455fs) deletion Pathogenic 866846 X:85155701-85155701 X:85900696-85900696 FND002 Fundus Dystrophy RP2 NM_006915.3(RP2):c.400C>T (p.Gln134Ter) SNV Pathogenic 866621 X:46713208-46713208 X:46853773-46853773 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.9906+1G>A SNV Pathogenic 866395 5:90020807-90020807 5:90724990-90724990 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5282C>G (p.Pro1761Arg) SNV Pathogenic/Likely pathogenic 377405 rs1057520212 1:94481325-94481325 1:94015769-94015769 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.3988del (p.Glu1330fs) deletion Pathogenic/Likely pathogenic 377183 rs1057520152 1:197411405-197411405 1:197442275-197442275 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.12284G>A (p.Gly4095Asp) SNV Pathogenic/Likely pathogenic 378847 rs759898765 1:215853501-215853501 1:215680159-215680159 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.6937G>T (p.Gly2313Cys) SNV Pathogenic/Likely pathogenic 384319 rs199840367 1:216143987-216143987 1:215970645-215970645 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys) SNV Pathogenic/Likely pathogenic 377402 rs752786160 1:94543269-94543269 1:94077713-94077713 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5175dup (p.Thr1726fs) duplication Pathogenic/Likely pathogenic 374183 rs1057518955 1:94485158-94485159 1:94019602-94019603 FND002 Fundus Dystrophy FLVCR1 NM_014053.4(FLVCR1):c.1092+5G>A SNV Pathogenic/Likely pathogenic 374768 rs556788423 1:213056785-213056785 1:212883443-212883443 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3682G>T (p.Glu1228Ter) SNV Pathogenic/Likely pathogenic 372579 rs1057517869 1:94502832-94502832 1:94037276-94037276 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) duplication Pathogenic/Likely pathogenic 372711 rs543698823 4:16008260-16008261 4:16006637-16006638 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.9343_9344AC[1] (p.Pro3116fs) short repeat Pathogenic/Likely pathogenic 371686 rs536593247 1:216011358-216011359 1:215838016-215838017 FND002 Fundus Dystrophy PCDH15 NM_033056.4(PCDH15):c.1737C>G (p.Tyr579Ter) SNV Pathogenic/Likely pathogenic 371411 rs1057517251 10:55912907-55912907 10:54153147-54153147 FND002 Fundus Dystrophy BBS1 NM_024649.5(BBS1):c.223_224del (p.Leu75fs) deletion Pathogenic/Likely pathogenic 370389 rs1057516451 11:66281940-66281941 11:66514469-66514470 FND002 Fundus Dystrophy BBS1 NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) SNV Pathogenic/Likely pathogenic 370228 rs376894444 11:66283057-66283057 11:66515586-66515586 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.12691C>T (p.Gln4231Ter) SNV Pathogenic/Likely pathogenic 372544 rs1057517844 1:215848562-215848562 1:215675220-215675220 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.486-14G>A SNV Pathogenic/Likely pathogenic 372543 rs374536346 1:216592035-216592035 1:216418693-216418693 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.829-1G>T SNV Pathogenic/Likely pathogenic 286964 rs776740276 3:100988418-100988418 3:101269574-101269574 FND002 Fundus Dystrophy SGSH NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer) deletion Pathogenic/Likely pathogenic 287037 rs752914124 17:78184478-78184488 17:80210679-80210689 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.6714del (p.Ile2239fs) deletion Pathogenic/Likely pathogenic 357699 rs752953889 6:64776242-64776242 6:64066349-64066349 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.564del (p.Glu189fs) deletion Pathogenic/Likely pathogenic 289312 rs886044148 1:94568577-94568577 1:94103021-94103021 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.9186_9187del (p.Asn3062fs) deletion Pathogenic/Likely pathogenic 289313 rs886044149 6:64430740-64430741 6:63720844-63720845 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1387C>T (p.Gln463Ter) SNV Pathogenic/Likely pathogenic 289902 rs886044302 X:38156564-38156564 X:38297311-38297311 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs) deletion Pathogenic/Likely pathogenic 289906 rs770748359 6:64430632-64430641 6:63720736-63720745 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6729+5_6729+19del deletion Pathogenic/Likely pathogenic 283573 rs749526785 1:94463398-94463412 1:93997842-93997856 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.7950dup (p.Asn2651fs) duplication Pathogenic/Likely pathogenic 280266 rs886041502 1:216062040-216062041 1:215888698-215888699 FND002 Fundus Dystrophy CHM NM_000390.4(CHM):c.116+1G>T SNV Pathogenic/Likely pathogenic 279770 rs786204761 X:85282494-85282494 X:86027490-86027490 FND002 Fundus Dystrophy AHI1 NM_001134831.2(AHI1):c.2988del (p.Val997fs) deletion Pathogenic/Likely pathogenic 280290 rs755246809 6:135726089-135726089 6:135404951-135404951 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.874G>A (p.Glu292Lys) SNV Pathogenic/Likely pathogenic 265047 rs886039311 11:61726976-61726976 11:61959504-61959504 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.9258+1G>A SNV Pathogenic/Likely pathogenic 265980 rs748810737 1:216017635-216017635 1:215844293-215844293 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.2304C>A (p.Cys768Ter) SNV Pathogenic/Likely pathogenic 265286 rs886039449 1:216420432-216420432 1:216247090-216247090 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.584G>T (p.Cys195Phe) SNV Pathogenic/Likely pathogenic 265083 rs764256655 1:197298065-197298065 1:197328935-197328935 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.1558del (p.Cys520fs) deletion Pathogenic/Likely pathogenic 236541 rs878853410 1:216495311-216495311 1:216321969-216321969 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg) SNV Pathogenic/Likely pathogenic 236115 rs568792949 1:94495021-94495021 1:94029465-94029465 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) SNV Pathogenic/Likely pathogenic 236478 rs767648174 1:197396763-197396763 1:197427633-197427633 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys) SNV Pathogenic/Likely pathogenic 236100 rs756840095 1:94508353-94508353 1:94042797-94042797 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter) SNV Pathogenic/Likely pathogenic 236125 rs886044747 1:94485145-94485145 1:94019589-94019589 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.3368A>G (p.Tyr1123Cys) SNV Pathogenic/Likely pathogenic 242397 rs775177930 1:216373412-216373412 1:216200070-216200070 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) SNV Pathogenic/Likely pathogenic 236129 rs760549861 1:94480241-94480241 1:94014685-94014685 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp) SNV Pathogenic/Likely pathogenic 228411 rs397517963 1:216498790-216498790 1:216325448-216325448 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys) SNV Pathogenic/Likely pathogenic 212727 rs200692438 1:94526289-94526289 1:94060733-94060733 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+1273_1905+1274del short repeat Pathogenic/Likely pathogenic 216990 rs771214648 X:38145073-38145074 X:38285820-38285821 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter) SNV Pathogenic/Likely pathogenic 208578 rs797045089 6:64791792-64791792 6:64081899-64081899 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.881C>G (p.Ser294Ter) SNV Pathogenic/Likely pathogenic 208579 rs752683070 6:66115242-66115242 6:65405349-65405349 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.642_656delinsC (p.Gly215fs) indel Pathogenic/Likely pathogenic 198414 rs796065331 X:38169990-38170004 X:38310737-38310751 FND002 Fundus Dystrophy KIAA0586 NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) deletion Pathogenic/Likely pathogenic 204593 rs534542684 14:58899157-58899157 14:58432439-58432439 FND002 Fundus Dystrophy RDH12 NM_152443.3(RDH12):c.210dup (p.Arg71fs) duplication Pathogenic/Likely pathogenic 197878 rs797044761 14:68191837-68191838 14:67725120-67725121 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) SNV Pathogenic/Likely pathogenic 197932 rs148660051 1:215963510-215963510 1:215790168-215790168 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.6601C>T (p.Gln2201Ter) SNV Pathogenic/Likely pathogenic 196933 rs794727579 1:216172285-216172285 1:215998943-215998943 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.7595-3C>G SNV Pathogenic/Likely pathogenic 197447 rs201657446 1:216062399-216062399 1:215889057-215889057 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.3443+1G>T SNV Pathogenic/Likely pathogenic 195665 rs373441420 6:65523270-65523270 6:64813377-64813377 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter) SNV Pathogenic/Likely pathogenic 194358 rs794727120 6:65707540-65707540 6:64997647-64997647 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.1719_1723del (p.Ser574fs) deletion Pathogenic/Likely pathogenic 191341 rs750542962 8:55538159-55538163 8:54625599-54625603 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1253T>C (p.Phe418Ser) SNV Pathogenic/Likely pathogenic 193580 rs794726979 1:94544249-94544249 1:94078693-94078693 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.1073+1G>A SNV Pathogenic/Likely pathogenic 193720 rs794727001 19:54631576-54631576 19:54128201-54128201 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg) SNV Pathogenic/Likely pathogenic 177722 rs782252317 11:76853809-76853809 11:77142763-77142763 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.2077-521A>G SNV Pathogenic/Likely pathogenic 190373 rs796051882 4:15989860-15989860 4:15988237-15988237 FND002 Fundus Dystrophy NMNAT1 NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser) SNV Pathogenic/Likely pathogenic 190977 rs748902766 1:10032184-10032184 1:9972126-9972126 FND002 Fundus Dystrophy NR2E3 NM_014249.4(NR2E3):c.119-2A>C SNV Pathogenic/Likely pathogenic 191059 rs2723341 15:72103821-72103821 15:71811481-71811481 FND002 Fundus Dystrophy CLRN1 NM_052995.2(CLRN1):c.274dup (p.Ile92fs) duplication Pathogenic/Likely pathogenic 188875 rs746523071 3:150645919-150645920 3:150928132-150928133 FND002 Fundus Dystrophy CLRN1 NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) indel Pathogenic/Likely pathogenic 188726 rs786204428 3:150690344-150690347 3:150972557-150972560 FND002 Fundus Dystrophy CNGB3 NM_019098.4(CNGB3):c.1119G>A (p.Trp373Ter) SNV Pathogenic/Likely pathogenic 189190 rs786204762 8:87656038-87656038 8:86643810-86643810 FND002 Fundus Dystrophy CNGB3 NM_019098.4(CNGB3):c.1006G>T (p.Glu336Ter) SNV Pathogenic/Likely pathogenic 188968 rs373862340 8:87656899-87656899 8:86644671-86644671 FND002 Fundus Dystrophy CNGB3 NM_019098.4(CNGB3):c.991-3T>G SNV Pathogenic/Likely pathogenic 188827 rs773372519 8:87656917-87656917 8:86644689-86644689 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) SNV Pathogenic/Likely pathogenic 178495 rs376764423 11:76919517-76919517 11:77208472-77208472 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter) SNV Pathogenic/Likely pathogenic 143151 rs199867882 3:100949961-100949961 3:101231117-101231117 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.5877del (p.Ser1961fs) deletion Pathogenic/Likely pathogenic 180092 rs727505343 1:216243615-216243615 1:216070273-216070273 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp) deletion Pathogenic/Likely pathogenic 166478 rs727503723 1:216166370-216166372 1:215993028-215993030 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) SNV Pathogenic/Likely pathogenic 143134 rs201493928 8:55537628-55537628 8:54625068-54625068 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.11156G>A (p.Arg3719His) SNV Pathogenic/Likely pathogenic 143170 rs527236139 1:215933077-215933077 1:215759735-215759735 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) SNV Pathogenic/Likely pathogenic 143172 rs527236137 1:215848243-215848243 1:215674901-215674901 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser) SNV Pathogenic/Likely pathogenic 143070 rs527236098 6:42689574-42689574 6:42721836-42721836 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln) SNV Pathogenic/Likely pathogenic 143076 rs148460146 1:94471025-94471025 1:94005469-94005469 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.14792-2A>G SNV Pathogenic/Likely pathogenic 100610 rs137853923 1:215814078-215814078 1:215640736-215640736 FND002 Fundus Dystrophy CC2D2A NM_001080522.2(CC2D2A):c.394C>T (p.Arg132Ter) SNV Pathogenic/Likely pathogenic 126242 rs377177061 4:15504502-15504502 4:15502879-15502879 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.920C>T (p.Thr307Ile) SNV Pathogenic/Likely pathogenic 99782 rs281865269 11:61727022-61727022 11:61959550-61959550 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.584C>T (p.Ala195Val) SNV Pathogenic/Likely pathogenic 99725 rs200277476 11:61724418-61724418 11:61956946-61956946 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.652C>T (p.Arg218Cys) SNV Pathogenic/Likely pathogenic 99735 rs281865238 11:61724874-61724874 11:61957402-61957402 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp) SNV Pathogenic/Likely pathogenic 99438 rs61750645 1:94467467-94467467 1:94001911-94001911 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr) SNV Pathogenic/Likely pathogenic 99463 rs61751384 1:94466422-94466422 1:94000866-94000866 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6342G>A (p.Val2114=) SNV Pathogenic/Likely pathogenic 99452 rs61748520 1:94466602-94466602 1:94001046-94001046 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys) SNV Pathogenic/Likely pathogenic 99447 rs61750648 1:94466628-94466628 1:94001072-94001072 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) SNV Pathogenic/Likely pathogenic 99428 rs61750641 1:94471055-94471055 1:94005499-94005499 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6166A>T (p.Lys2056Ter) SNV Pathogenic/Likely pathogenic 99432 rs61750644 1:94467530-94467530 1:94001974-94001974 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) SNV Pathogenic/Likely pathogenic 99330 rs61751404 1:94486896-94486896 1:94021340-94021340 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp) SNV Pathogenic/Likely pathogenic 99321 rs61750155 1:94487251-94487251 1:94021695-94021695 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4838del (p.Asp1613fs) deletion Pathogenic/Likely pathogenic 99323 rs61752438 1:94487206-94487206 1:94021650-94021650 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) SNV Pathogenic/Likely pathogenic 99303 rs61750152 1:94490567-94490567 1:94025011-94025011 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) SNV Pathogenic/Likely pathogenic 99304 rs62642574 1:94490550-94490550 1:94024994-94024994 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4253+4C>T SNV Pathogenic/Likely pathogenic 99266 rs61754044 1:94496548-94496548 1:94030992-94030992 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His) SNV Pathogenic/Likely pathogenic 99278 rs61750142 1:94496008-94496008 1:94030452-94030452 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) SNV Pathogenic/Likely pathogenic 99283 rs61750145 1:94495083-94495083 1:94029527-94029527 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) SNV Pathogenic/Likely pathogenic 99284 rs61750146 1:94495078-94495078 1:94029522-94029522 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3994C>T (p.Gln1332Ter) SNV Pathogenic/Likely pathogenic 99249 rs61752428 1:94497468-94497468 1:94031912-94031912 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.302+1G>A SNV Pathogenic/Likely pathogenic 99187 rs61751413 1:94576993-94576993 1:94111437-94111437 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg) SNV Pathogenic/Likely pathogenic 99260 rs61750135 1:94496583-94496583 1:94031027-94031027 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) SNV Pathogenic/Likely pathogenic 99224 rs1801269 1:94506901-94506901 1:94041345-94041345 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3261A>C (p.Glu1087Asp) SNV Pathogenic/Likely pathogenic 99212 rs61752416 1:94508384-94508384 1:94042828-94042828 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn) SNV Pathogenic/Likely pathogenic 99174 rs61749451 1:94512478-94512478 1:94046922-94046922 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.203C>G (p.Pro68Arg) SNV Pathogenic/Likely pathogenic 99112 rs62654397 1:94577093-94577093 1:94111537-94111537 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2291G>A (p.Cys764Tyr) SNV Pathogenic/Likely pathogenic 99123 rs61749428 1:94522248-94522248 1:94056692-94056692 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2300T>A (p.Val767Asp) SNV Pathogenic/Likely pathogenic 99127 rs61751395 1:94522239-94522239 1:94056683-94056683 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1933G>A (p.Asp645Asn) SNV Pathogenic/Likely pathogenic 99103 rs61749418 1:94528137-94528137 1:94062581-94062581 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu) SNV Pathogenic/Likely pathogenic 99107 rs62654395 1:94577102-94577102 1:94111546-94111546 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) SNV Pathogenic/Likely pathogenic 99108 rs61749420 1:94526296-94526296 1:94060740-94060740 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.179C>T (p.Ala60Val) SNV Pathogenic/Likely pathogenic 99083 rs55732384 1:94577117-94577117 1:94111561-94111561 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys) SNV Pathogenic/Likely pathogenic 99062 rs61748556 1:94528819-94528819 1:94063263-94063263 FND002 Fundus Dystrophy RS1 NM_003159.2(CDKL5):c.2714-1578C>T SNV Pathogenic/Likely pathogenic 98979 rs281865348 X:18662549-18662549 X:18644429-18644429 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) SNV Pathogenic/Likely pathogenic 99070 rs61748558 1:94528780-94528780 1:94063224-94063224 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1025_1038del (p.Asp342fs) deletion Pathogenic/Likely pathogenic 99026 rs63749083 1:94546095-94546108 1:94080539-94080552 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.108del (p.Leu37fs) deletion Pathogenic/Likely pathogenic 99030 rs62642569 1:94578581-94578581 1:94113025-94113025 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.379A>G (p.Arg127Gly) SNV Pathogenic/Likely pathogenic 98784 rs62638643 X:38178172-38178172 X:38318919-38318919 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.80C>T (p.Ser27Phe) SNV Pathogenic/Likely pathogenic 98711 rs61755766 6:42689993-42689993 6:42722255-42722255 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr) SNV Pathogenic/Likely pathogenic 98690 rs61755801 6:42672296-42672296 6:42704558-42704558 FND002 Fundus Dystrophy HGSNAT NM_152419.3(HGSNAT):c.1250+1G>A SNV Pathogenic/Likely pathogenic 96500 rs398124544 8:43046739-43046739 8:43191596-43191596 FND002 Fundus Dystrophy RAX2 NM_032753.4(RAX2):c.344C>A (p.Ser115Ter) SNV Pathogenic/Likely pathogenic 96232 rs398124431 19:3770830-3770830 19:3770832-3770832 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5461-10T>C SNV Pathogenic/Likely pathogenic 92870 rs1800728 1:94476951-94476951 1:94011395-94011395 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+500_1905+501del short repeat Pathogenic/Likely pathogenic 91389 rs398122960 X:38145846-38145847 X:38286593-38286594 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) SNV Pathogenic/Likely pathogenic 92867 rs61750120 1:94508323-94508323 1:94042767-94042767 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.505G>T (p.Glu169Ter) SNV Pathogenic/Likely pathogenic 92857 rs369037463 X:38176683-38176683 X:38317430-38317430 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) SNV Pathogenic/Likely pathogenic 48611 rs397518041 1:216019240-216019240 1:215845898-215845898 FND002 Fundus Dystrophy VPS13B NM_017890.4(VPS13B):c.11314C>T (p.Gln3772Ter) SNV Pathogenic/Likely pathogenic 56635 rs386834061 8:100880540-100880540 8:99868312-99868312 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) SNV Pathogenic/Likely pathogenic 48592 rs111033280 1:216500979-216500979 1:216327637-216327637 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.3558del (p.Cys1186fs) deletion Pathogenic/Likely pathogenic 48504 rs397518014 1:216373222-216373222 1:216199880-216199880 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.13313G>A (p.Trp4438Ter) SNV Pathogenic/Likely pathogenic 48416 rs111033417 1:215847940-215847940 1:215674598-215674598 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter) SNV Pathogenic/Likely pathogenic 48388 rs397517976 1:215901484-215901484 1:215728142-215728142 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.12295-2A>G SNV Pathogenic/Likely pathogenic 48392 rs151148854 1:215848960-215848960 1:215675618-215675618 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) SNV Pathogenic/Likely pathogenic 48352 rs111033264 1:215956104-215956104 1:215782762-215782762 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) SNV Pathogenic/Likely pathogenic 48355 rs202175091 1:215955412-215955412 1:215782070-215782070 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr) SNV Pathogenic/Likely pathogenic 48356 rs111033265 1:215955400-215955400 1:215782058-215782058 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.14973-2A>G SNV Pathogenic/Likely pathogenic 46275 rs371981035 5:90106048-90106048 5:90810231-90810231 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) SNV Pathogenic/Likely pathogenic 43206 rs199897298 11:76895733-76895733 11:77184688-77184688 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) SNV Pathogenic/Likely pathogenic 43208 rs111033214 11:76900393-76900393 11:77189348-77189348 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.4293G>A (p.Trp1431Ter) SNV Pathogenic/Likely pathogenic 43236 rs397516308 11:76905539-76905539 11:77194494-77194494 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) SNV Pathogenic/Likely pathogenic 43230 rs111033181 11:76867068-76867068 11:77156022-77156022 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter) SNV Pathogenic/Likely pathogenic 43270 rs111033182 11:76913402-76913402 11:77202357-77202357 FND002 Fundus Dystrophy TULP1 NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu) SNV Pathogenic/Likely pathogenic 7358 rs121909074 6:35467782-35467782 6:35500005-35500005 FND002 Fundus Dystrophy CNGA1 NM_000087.4(CNGA1):c.959C>T (p.Ser320Phe) SNV Pathogenic/Likely pathogenic 16932 rs62625014 4:47939552-47939552 4:47937535-47937535 FND002 Fundus Dystrophy COL2A1 NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) SNV Pathogenic/Likely pathogenic 17383 rs121912884 12:48379358-48379358 12:47985575-47985575 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) SNV Pathogenic/Likely pathogenic 13179 rs61755771 6:42689937-42689937 6:42722199-42722199 FND002 Fundus Dystrophy SPATA7 NM_018418.5(SPATA7):c.253C>T (p.Arg85Ter) SNV Pathogenic/Likely pathogenic 30806 rs140287375 14:88883069-88883069 14:88416725-88416725 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg) SNV Pathogenic/Likely pathogenic 13173 rs61755798 6:42672302-42672302 6:42704564-42704564 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu) SNV Pathogenic/Likely pathogenic 9478 rs104893617 2:99013274-99013274 2:98396811-98396811 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) SNV Pathogenic/Likely pathogenic 7888 rs1800553 1:94473807-94473807 1:94008251-94008251 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.635G>A (p.Arg212His) SNV Pathogenic/Likely pathogenic 11850 rs28934610 11:76867950-76867950 11:77156904-77156904 FND002 Fundus Dystrophy CRX NM_000554.6(CRX):c.122G>A (p.Arg41Gln) SNV Pathogenic/Likely pathogenic 7421 rs61748436 19:48339521-48339521 19:47836264-47836264 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) SNV Pathogenic/Likely pathogenic 7894 rs61751374 1:94508969-94508969 1:94043413-94043413 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) SNV Pathogenic/Likely pathogenic 7898 rs61750200 1:94564484-94564484 1:94098928-94098928 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp) SNV Pathogenic/Likely pathogenic 7899 rs121909205 1:94586550-94586550 1:94120994-94120994 FND002 Fundus Dystrophy NR2E3 NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) SNV Pathogenic/Likely pathogenic 5532 rs28937873 15:72105913-72105913 15:71813573-71813573 FND002 Fundus Dystrophy NR2E3 NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg) SNV Pathogenic/Likely pathogenic 5533 rs121912631 15:72103870-72103870 15:71811530-71811530 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.1605-2A>G SNV Pathogenic/Likely pathogenic 5401 rs730880273 2:112758776-112758776 2:112001199-112001199 FND002 Fundus Dystrophy BBS2 NM_031885.4(BBS2):c.1895G>C (p.Arg632Pro) SNV Pathogenic/Likely pathogenic 4578 rs138043021 16:56530894-56530894 16:56496982-56496982 FND002 Fundus Dystrophy CNGB3 NM_019098.4(CNGB3):c.607C>T (p.Arg203Ter) SNV Pathogenic/Likely pathogenic 5223 rs267606739 8:87680283-87680283 8:86668055-86668055 FND002 Fundus Dystrophy USH2A NM_007123.5(USH2A):c.2299del (p.Glu767fs) deletion Pathogenic/Likely pathogenic 2351 rs80338903 1:216420437-216420437 1:216247095-216247095 FND002 Fundus Dystrophy BBS2 NM_031885.4(BBS2):c.72C>G (p.Tyr24Ter) SNV Pathogenic/Likely pathogenic 4570 rs121908175 16:56553703-56553703 16:56519791-56519791 FND002 Fundus Dystrophy C1QTNF5 NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg) SNV Pathogenic/Likely pathogenic 2126 rs111033578 11:119210284-119210284 11:119339574-119339574 FND002 Fundus Dystrophy RDH12 NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys) SNV Pathogenic/Likely pathogenic 2046 rs28940313 14:68195926-68195926 14:67729209-67729209 FND002 Fundus Dystrophy BBS12 NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) deletion Pathogenic/Likely pathogenic 1151 rs587777803 4:123664161-123664162 4:122743006-122743007 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter) SNV Pathogenic/Likely pathogenic 538 rs137853190 6:64430522-64430522 6:63720626-63720626 FND002 Fundus Dystrophy OAT NM_000274.3(OAT):c.897C>G (p.Tyr299Ter) SNV Pathogenic/Likely pathogenic 176 rs121965057 10:126091499-126091499 10:124402930-124402930 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.1048C>T (p.Gln350Ter) SNV Pathogenic/Likely pathogenic 866200 19:54631550-54631550 19:54128175-54128175 FND002 Fundus Dystrophy RP1L1 NM_178857.6(RP1L1):c.1107G>A (p.Trp369Ter) SNV Pathogenic/Likely pathogenic 865772 8:10470501-10470501 8:10612991-10612991 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.647T>A (p.Met216Lys) SNV Pathogenic/Likely pathogenic 865880 3:129251210-129251210 3:129532367-129532367 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.1028G>A (p.Ser343Asn) SNV Pathogenic/Likely pathogenic 867199 3:129252542-129252542 3:129533699-129533699 FND002 Fundus Dystrophy SNRNP200 NM_014014.5(SNRNP200):c.2066A>G (p.Tyr689Cys) SNV Pathogenic/Likely pathogenic 866921 2:96958804-96958804 2:96293066-96293066 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.506del (p.Gly169fs) deletion Pathogenic/Likely pathogenic 866384 1:197297986-197297986 1:197328856-197328856 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.6836T>A (p.Leu2279Ter) SNV Pathogenic/Likely pathogenic 858111 12:88449477-88449477 12:88055700-88055700 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4848+1G>A SNV Pathogenic/Likely pathogenic 853057 1:94487195-94487195 1:94021639-94021639 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.303+1G>A SNV Pathogenic/Likely pathogenic 860340 4:16037357-16037357 4:16035734-16035734 FND002 Fundus Dystrophy RS1 NM_000330.4(RS1):c.316C>T (p.Gln106Ter) SNV Pathogenic/Likely pathogenic 851015 X:18665321-18665321 X:18647201-18647201 FND002 Fundus Dystrophy RPGRIP1 NM_020366.3(RPGRIP1):c.2465_2468dup (p.Ala824fs) duplication Pathogenic/Likely pathogenic 857229 14:21794086-21794087 14:21325927-21325928 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.2268del (p.Asn755_Tyr756insTer) deletion Pathogenic/Likely pathogenic 862262 3:100962907-100962907 3:101244063-101244063 FND002 Fundus Dystrophy KIF11 NM_004523.4(KIF11):c.2434_2438del (p.Ser812fs) deletion Pathogenic/Likely pathogenic 848431 10:94405285-94405289 10:92645528-92645532 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.16A>G (p.Thr6Ala) SNV Pathogenic/Likely pathogenic 858577 11:61719294-61719294 11:61951822-61951822 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.668del (p.Gly223fs) deletion Pathogenic/Likely pathogenic 862472 8:55534728-55534728 8:54622168-54622168 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.4199C>A (p.Ser1400Ter) SNV Pathogenic/Likely pathogenic 853292 6:65301561-65301561 6:64591668-64591668 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.3003T>A (p.Cys1001Ter) SNV Pathogenic/Likely pathogenic 844797 6:65532705-65532705 6:64822812-64822812 FND002 Fundus Dystrophy AHI1 NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter) SNV Pathogenic/Likely pathogenic 858292 6:135748398-135748398 6:135427260-135427260 FND002 Fundus Dystrophy AHI1 NM_001134831.2(AHI1):c.703dup (p.Arg235fs) duplication Pathogenic/Likely pathogenic 847622 6:135786997-135786998 6:135465859-135465860 FND002 Fundus Dystrophy CNGA1 NM_001375386.1(CNGA1):c.1339dup (p.Thr447fs) duplication Pathogenic/Likely pathogenic 850020 4:47939171-47939172 4:47937154-47937155 FND002 Fundus Dystrophy CWC27 NM_005869.4(CWC27):c.1156dup (p.Leu386fs) duplication Pathogenic/Likely pathogenic 850590 5:64272962-64272963 5:64977135-64977136 FND002 Fundus Dystrophy CERKL NM_201548.5(CERKL):c.98T>G (p.Leu33Ter) SNV Pathogenic/Likely pathogenic 839961 2:182521636-182521636 2:181656909-181656909 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2980_2987del (p.Ile994fs) deletion Pathogenic/Likely pathogenic 857636 1:94510232-94510239 1:94044676-94044683 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2626C>T (p.Gln876Ter) SNV Pathogenic/Likely pathogenic 862066 1:94517216-94517216 1:94051660-94051660 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys) SNV Pathogenic/Likely pathogenic 848662 1:216052432-216052432 1:215879090-215879090 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.6616C>T (p.Gln2206Ter) SNV Pathogenic/Likely pathogenic 847796 1:216172270-216172270 1:215998928-215998928 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6285_6286inv (p.Glu2096Lys) inversion Pathogenic/Likely pathogenic 843110 1:94466658-94466659 1:94001102-94001103 FND002 Fundus Dystrophy RPGRIP1 NM_020366.3(RPGRIP1):c.3618-1_3621del deletion Pathogenic/Likely pathogenic 814005 14:21816326-21816330 14:21348167-21348171 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.14787del (p.Glu4930fs) deletion Pathogenic/Likely pathogenic 817032 1:215820868-215820868 1:215647526-215647526 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.14038C>T (p.Gln4680Ter) SNV Pathogenic/Likely pathogenic 851480 1:215844409-215844409 1:215671067-215671067 FND002 Fundus Dystrophy TTLL5 NM_015072.5(TTLL5):c.630C>A (p.Tyr210Ter) SNV Pathogenic/Likely pathogenic 813099 14:76173405-76173405 14:75707062-75707062 FND002 Fundus Dystrophy NR2E3 NM_014249.4(NR2E3):c.406G>T (p.Glu136Ter) SNV Pathogenic/Likely pathogenic 813198 15:72104351-72104351 15:71812011-71812011 FND002 Fundus Dystrophy MAK NM_001242957.3(MAK):c.718_719del (p.Gln240fs) deletion Pathogenic/Likely pathogenic 817732 6:10802237-10802238 6:10802004-10802005 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.7932G>A (p.Trp2644Ter) SNV Pathogenic/Likely pathogenic 801613 1:216062059-216062059 1:215888717-215888717 FND002 Fundus Dystrophy BBS5 NM_152384.3(BBS5):c.619-1G>C SNV Pathogenic/Likely pathogenic 812227 2:170354136-170354136 2:169497626-169497626 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.653C>A (p.Ser218Ter) SNV Pathogenic/Likely pathogenic 813079 6:42672278-42672278 6:42704540-42704540 FND002 Fundus Dystrophy CNGB1 NM_001297.5(CNGB1):c.1958-1G>A SNV Pathogenic/Likely pathogenic 803260 16:57951381-57951381 16:57917477-57917477 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.573C>A (p.Cys191Ter) SNV Pathogenic/Likely pathogenic 804158 19:54627173-54627173 19:54123794-54123794 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+1199_1905+1200del short repeat Pathogenic/Likely pathogenic 803964 X:38145147-38145148 X:38285894-38285895 FND002 Fundus Dystrophy OPA1 NM_015560.2(OPA1):c.112C>T (p.Arg38Ter) SNV Pathogenic/Likely pathogenic 805095 3:193332591-193332591 3:193614802-193614802 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.784+1G>A SNV Pathogenic/Likely pathogenic 802056 4:16024948-16024948 4:16023325-16023325 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs) deletion Pathogenic/Likely pathogenic 802230 6:64430625-64430628 6:63720729-63720732 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.5215C>T (p.Arg1739Ter) SNV Pathogenic/Likely pathogenic 658273 11:76914151-76914151 11:77203106-77203106 FND002 Fundus Dystrophy RPE65 NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) SNV Pathogenic/Likely pathogenic 660359 1:68897192-68897192 1:68431509-68431509 FND002 Fundus Dystrophy MFSD8 NM_001371596.2(MFSD8):c.831dup (p.Val278fs) duplication Pathogenic/Likely pathogenic 648978 4:128854171-128854172 4:127933016-127933017 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.778G>A (p.Asp260Asn) SNV Pathogenic/Likely pathogenic 689726 2:99012411-99012411 2:98395948-98395948 FND002 Fundus Dystrophy PDE6B NM_000283.3(PDE6B):c.1699C>T (p.Gln567Ter) SNV Pathogenic/Likely pathogenic 632445 rs772057239 4:656007-656007 4:662218-662218 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter) SNV Pathogenic/Likely pathogenic 632492 rs779983752 6:64436534-64436534 6:63726641-63726641 FND002 Fundus Dystrophy SPATA7 NM_018418.5(SPATA7):c.1102_1103del (p.Leu368fs) deletion Pathogenic/Likely pathogenic 631720 rs777069665 14:88899497-88899498 14:88433153-88433154 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.1451C>A (p.Ser484Ter) SNV Pathogenic/Likely pathogenic 560491 rs1563329888 8:55537893-55537893 8:54625333-54625333 FND002 Fundus Dystrophy RDH12 NM_152443.3(RDH12):c.506G>A (p.Arg169Gln) SNV Pathogenic/Likely pathogenic 623219 rs971610277 14:68193755-68193755 14:67727038-67727038 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.4902_4908delinsTC (p.Asn1635fs) indel Pathogenic/Likely pathogenic 594236 rs1558251742 1:216260140-216260146 1:216086798-216086804 FND002 Fundus Dystrophy BBS12 NM_152618.3(BBS12):c.1502C>T (p.Thr501Met) SNV Pathogenic/Likely pathogenic 585190 rs138011813 4:123664549-123664549 4:122743394-122743394 FND002 Fundus Dystrophy HGSNAT NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu) SNV Pathogenic/Likely pathogenic 569073 rs756310864 8:43052991-43052991 8:43197848-43197848 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+479del deletion Pathogenic/Likely pathogenic 560500 rs1569237206 X:38145868-38145868 X:38286615-38286615 FND002 Fundus Dystrophy RPGRIP1 NM_020366.3(RPGRIP1):c.2718dup (p.Asn907Ter) duplication Pathogenic/Likely pathogenic 560506 rs776289402 14:21795785-21795786 14:21327626-21327627 FND002 Fundus Dystrophy NR2E3 NM_014249.4(NR2E3):c.194_202del (p.Asn65_Cys67del) deletion Pathogenic/Likely pathogenic 551852 rs1555454566 15:72103893-72103901 15:71811553-71811561 FND002 Fundus Dystrophy BBS2 NM_031885.4(BBS2):c.1909_1910del (p.Met637fs) deletion Pathogenic/Likely pathogenic 552850 rs1555521379 16:56530879-56530880 16:56496967-56496968 FND002 Fundus Dystrophy BBS2 NM_031885.4(BBS2):c.534+1G>T SNV Pathogenic/Likely pathogenic 553927 rs773862084 16:56544770-56544770 16:56510858-56510858 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs) deletion Pathogenic/Likely pathogenic 550019 rs528919874 6:64431272-64431279 6:63721376-63721383 FND002 Fundus Dystrophy PCDH15 NM_033056.4(PCDH15):c.274C>T (p.Gln92Ter) SNV Pathogenic/Likely pathogenic 555038 rs143842048 10:56138586-56138586 10:54378826-54378826 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp) SNV Pathogenic/Likely pathogenic 553245 rs1555067667 11:76871318-76871318 11:77160272-77160272 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.387del (p.Phe129fs) deletion Pathogenic/Likely pathogenic 556037 rs1484339054 1:216595292-216595292 1:216421950-216421950 FND002 Fundus Dystrophy ALMS1 NM_015120.4(ALMS1):c.1199_1205del (p.Thr400fs) deletion Pathogenic/Likely pathogenic 555656 rs761292021 2:73651986-73651992 2:73424858-73424864 FND002 Fundus Dystrophy ALMS1 NM_015120.4(ALMS1):c.9900dup (p.Ser3301fs) duplication Pathogenic/Likely pathogenic 556350 rs754702823 2:73762065-73762066 2:73534938-73534939 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.2167+5G>A SNV Pathogenic/Likely pathogenic 552447 rs771583281 1:216424240-216424240 1:216250898-216250898 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.5167G>C (p.Gly1723Arg) SNV Pathogenic/Likely pathogenic 552599 rs1342455785 1:216258040-216258040 1:216084698-216084698 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.1972-1G>A SNV Pathogenic/Likely pathogenic 556200 rs372927796 1:216424441-216424441 1:216251099-216251099 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.5572+1G>A SNV Pathogenic/Likely pathogenic 550083 rs775293551 1:216251430-216251430 1:216078088-216078088 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.5278del (p.Asp1760fs) deletion Pathogenic/Likely pathogenic 555362 rs754374132 1:216256818-216256818 1:216083476-216083476 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.10636G>A (p.Gly3546Arg) SNV Pathogenic/Likely pathogenic 557692 rs1553261372 1:215955488-215955488 1:215782146-215782146 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.8557A>T (p.Arg2853Ter) SNV Pathogenic/Likely pathogenic 555751 rs749452910 1:216052107-216052107 1:215878765-215878765 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.9815C>T (p.Pro3272Leu) SNV Pathogenic/Likely pathogenic 553424 rs764182950 1:215972392-215972392 1:215799050-215799050 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.10388-2A>G SNV Pathogenic/Likely pathogenic 554721 rs1553261479 1:215956279-215956279 1:215782937-215782937 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.12232G>T (p.Glu4078Ter) SNV Pathogenic/Likely pathogenic 553479 rs988693758 1:215853553-215853553 1:215680211-215680211 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.3589del (p.Ser1197fs) deletion Pathogenic/Likely pathogenic 552496 rs1553313810 1:216373191-216373191 1:216199849-216199849 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.8558+1G>T SNV Pathogenic/Likely pathogenic 555522 rs770383273 1:216052105-216052105 1:215878763-215878763 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.2168-2A>G SNV Pathogenic/Likely pathogenic 556562 rs993185407 1:216420570-216420570 1:216247228-216247228 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.1724G>A (p.Cys575Tyr) SNV Pathogenic/Likely pathogenic 552511 rs483353054 1:216465633-216465633 1:216292291-216292291 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.15200del (p.Ile5067fs) deletion Pathogenic/Likely pathogenic 556916 rs1295968274 1:215807898-215807898 1:215634556-215634556 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.11048-2A>G SNV Pathogenic/Likely pathogenic 553421 rs200871041 1:215933187-215933187 1:215759845-215759845 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.15017C>T (p.Thr5006Met) SNV Pathogenic/Likely pathogenic 553406 rs757676723 1:215812532-215812532 1:215639190-215639190 FND002 Fundus Dystrophy PRPF8 NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His) SNV Pathogenic/Likely pathogenic 546782 rs1555550617 17:1558827-1558827 17:1655533-1655533 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.5962dup (p.Ile1988fs) duplication Pathogenic/Likely pathogenic 523946 rs769512989 8:55542403-55542404 8:54629843-54629844 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.10736_10737del (p.Ala3579fs) deletion Pathogenic/Likely pathogenic 523945 rs1307312865 5:90041049-90041050 5:90745232-90745233 FND002 Fundus Dystrophy GUCY2D NM_000180.4(GUCY2D):c.849C>G (p.Tyr283Ter) SNV Pathogenic/Likely pathogenic 521653 rs143745703 17:7907297-7907297 17:8003979-8003979 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5289del (p.Val1764fs) deletion Pathogenic/Likely pathogenic 502651 rs1553188071 1:94481318-94481318 1:94015762-94015762 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.5017del (p.Tyr1673fs) deletion Pathogenic/Likely pathogenic 498306 rs753090404 8:55541457-55541457 8:54628897-54628897 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.9877C>T (p.Arg3293Ter) SNV Pathogenic/Likely pathogenic 517415 rs769215629 5:90020777-90020777 5:90724960-90724960 FND002 Fundus Dystrophy RPGRIP1 NM_020366.3(RPGRIP1):c.2554C>T (p.Arg852Ter) SNV Pathogenic/Likely pathogenic 501219 rs1429786931 14:21794176-21794176 14:21326017-21326017 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.11047+1G>A SNV Pathogenic/Likely pathogenic 501315 rs201730567 1:215940022-215940022 1:215766680-215766680 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.6159del (p.Glu2054fs) deletion Pathogenic/Likely pathogenic 497726 rs769838859 1:216221880-216221880 1:216048538-216048538 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.8681G>A (p.Arg2894Lys) SNV Pathogenic/Likely pathogenic 495329 rs1369414978 1:216051100-216051100 1:215877758-215877758 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.1111_1112del (p.Ile371fs) deletion Pathogenic/Likely pathogenic 495336 rs1366496013 1:216498678-216498679 1:216325336-216325337 FND002 Fundus Dystrophy IFT140 NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter) SNV Pathogenic/Likely pathogenic 489108 rs1002670900 16:1569983-1569983 16:1519982-1519982 FND002 Fundus Dystrophy GUCA1A NM_000409.4(GUCA1A):c.428delinsACAC (p.Ile143delinsAsnThr) indel Pathogenic/Likely pathogenic 449489 rs1554186463 6:42146616-42146616 6:42178878-42178878 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.5118G>A (p.Trp1706Ter) SNV Pathogenic/Likely pathogenic 444203 rs1461319754 1:216258089-216258089 1:216084747-216084747 FND002 Fundus Dystrophy CACNA1F NM_001256789.3(CACNA1F):c.3853C>T (p.Arg1285Cys) SNV Pathogenic/Likely pathogenic 438126 rs1557106557 X:49069216-49069216 X:49212756-49212756 FND002 Fundus Dystrophy CNGB1 NM_001297.5(CNGB1):c.413-1G>A SNV Pathogenic/Likely pathogenic 437976 rs189234741 16:57996515-57996515 16:57962611-57962611 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) SNV Pathogenic/Likely pathogenic 437965 rs139185976 6:42672308-42672308 6:42704570-42704570 FND002 Fundus Dystrophy NR2E3 NM_014249.4(NR2E3):c.311G>A (p.Arg104Gln) SNV Pathogenic/Likely pathogenic 438228 rs766096417 15:72104171-72104171 15:71811831-71811831 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.2613dup (p.Arg872fs) duplication Pathogenic/Likely pathogenic 437955 rs1449723475 8:55539049-55539050 8:54626489-54626490 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter) SNV Pathogenic/Likely pathogenic 437995 rs541717028 2:112777074-112777074 2:112019497-112019497 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1497G>A (p.Trp499Ter) SNV Pathogenic/Likely pathogenic 438087 rs1553193813 1:94543303-94543303 1:94077747-94077747 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) indel Pathogenic/Likely pathogenic 438013 rs1553252388 1:215847906-215847918 1:215674564-215674576 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.622del (p.Thr208fs) deletion Pathogenic/Likely pathogenic 402237 rs766246531 4:16026823-16026823 4:16025200-16025200 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.1563del (p.Asp521fs) deletion Pathogenic/Likely pathogenic 419644 rs1064794012 11:76873907-76873907 11:77162861-77162861 FND002 Fundus Dystrophy CLN3 NM_000086.2(CLN3):c.1213C>T (p.Arg405Trp) SNV Pathogenic/Likely pathogenic 418137 rs139842473 16:28488941-28488941 16:28477620-28477620 FND002 Fundus Dystrophy HK1 NM_033500.2(HK1):c.2503G>A (p.Glu835Lys) SNV Pathogenic/Likely pathogenic 424845 rs777849213 10:71158514-71158514 10:69398758-69398758 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4326C>A (p.Asn1442Lys) SNV Pathogenic/Likely pathogenic 417991 rs762150575 1:94496010-94496010 1:94030454-94030454 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1958G>A (p.Arg653His) SNV Pathogenic/Likely pathogenic 417982 rs141823837 1:94526295-94526295 1:94060739-94060739 FND002 Fundus Dystrophy BBS1 NM_024649.5(BBS1):c.17dup (p.Ser7fs) duplication Pathogenic/Likely pathogenic 412283 rs1166022838 11:66278146-66278147 11:66510675-66510676 FND002 Fundus Dystrophy BBS10 NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer) deletion Pathogenic/Likely pathogenic 406221 rs775950661 12:76739645-76739646 12:76345865-76345866 FND002 Fundus Dystrophy RP2 NM_006915.3(RP2):c.768+1G>C SNV Likely pathogenic 866491 X:46713577-46713577 X:46854142-46854142 FND002 Fundus Dystrophy OAT NM_000274.3(OAT):c.1124G>C (p.Gly375Ala) SNV Likely pathogenic 159 rs121965045 10:126089444-126089444 10:124400875-124400875 FND002 Fundus Dystrophy CHM NM_000390.4(CHM):c.189+1G>C SNV Likely pathogenic 866380 X:85236740-85236740 X:85981736-85981736 FND002 Fundus Dystrophy CHM NM_000390.4(CHM):c.49+2T>C SNV Likely pathogenic 865793 X:85302486-85302486 X:86047482-86047482 FND002 Fundus Dystrophy CHM NM_000390.4(CHM):c.1770+2T>A SNV Likely pathogenic 866469 X:85128055-85128055 X:85873050-85873050 FND002 Fundus Dystrophy CHM NM_000390.4(CHM):c.1349+3A>C SNV Likely pathogenic 865879 X:85156086-85156086 X:85901081-85901081 FND002 Fundus Dystrophy CHM NM_000390.4(CHM):c.820-1G>A SNV Likely pathogenic 866881 X:85212981-85212981 X:85957976-85957976 FND002 Fundus Dystrophy CACNA1F NM_001256789.3(CACNA1F):c.4008+1G>A SNV Likely pathogenic 866077 X:49068702-49068702 X:49212242-49212242 FND002 Fundus Dystrophy CACNA1F NM_001256789.3(CACNA1F):c.2544-2A>T SNV Likely pathogenic 866896 X:49075911-49075911 X:49219452-49219452 FND002 Fundus Dystrophy COL2A1 NM_001844.5(COL2A1):c.2193_2193+1inv inversion Likely pathogenic 866224 12:48376630-48376631 12:47982847-47982848 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1060-2A>G SNV Likely pathogenic 866124 X:38158396-38158396 X:38299143-38299143 FND002 Fundus Dystrophy RS1 NM_000330.4(RS1):c.53-1G>A SNV Likely pathogenic 866919 X:18675786-18675786 X:18657666-18657666 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.1146+1G>A SNV Likely pathogenic 865799 19:54631753-54631753 19:54128378-54128378 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.946-2A>G SNV Likely pathogenic 866758 19:54631446-54631446 19:54128071-54128071 FND002 Fundus Dystrophy CFAP410 NM_004928.3(CFAP410):c.96+1G>T SNV Likely pathogenic 866283 21:45757531-45757531 21:44337648-44337648 FND002 Fundus Dystrophy COL18A1 NM_030582.4(COL18A1):c.1788+1G>A SNV Likely pathogenic 866655 21:46898268-46898268 21:45478354-45478354 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.698-1G>C SNV Likely pathogenic 867096 19:54627877-54627877 19:54124498-54124498 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.239-1G>A SNV Likely pathogenic 866371 19:54625238-54625238 19:54121859-54121859 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.239-1G>T SNV Likely pathogenic 866157 19:54625238-54625238 19:54121859-54121859 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.421-2A>C SNV Likely pathogenic 866142 19:54626831-54626831 19:54123452-54123452 FND002 Fundus Dystrophy NR2E3 NM_014249.4(NR2E3):c.748-1G>A SNV Likely pathogenic 866463 15:72105728-72105728 15:71813388-71813388 FND002 Fundus Dystrophy BBS4 NM_033028.5(BBS4):c.642+3A>G SNV Likely pathogenic 866551 15:73020338-73020338 15:72727997-72727997 FND002 Fundus Dystrophy IFT140 NM_014714.4(IFT140):c.4040+1G>A SNV Likely pathogenic 866334 16:1569881-1569881 16:1519880-1519880 FND002 Fundus Dystrophy IFT140 NM_014714.4(IFT140):c.1359+1G>A SNV Likely pathogenic 866079 16:1634217-1634217 16:1584216-1584216 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.5586+1G>C SNV Likely pathogenic 866992 12:88471473-88471473 12:88077696-88077696 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.2818-2A>G SNV Likely pathogenic 866227 12:88496790-88496790 12:88103013-88103013 FND002 Fundus Dystrophy COL2A1 NM_001844.5(COL2A1):c.1221+1G>A SNV Likely pathogenic 866010 12:48381393-48381393 12:47987610-47987610 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.4568+1G>A SNV Likely pathogenic 866318 11:76909667-76909667 11:77198622-77198622 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.1100+1_1100+10del deletion Likely pathogenic 866911 11:61727513-61727522 11:61960041-61960050 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.1740-2A>G SNV Likely pathogenic 867040 11:61731574-61731574 11:61964102-61964102 FND002 Fundus Dystrophy BBS1 NM_024649.5(BBS1):c.724-8_726del deletion Likely pathogenic 865945 11:66288733-66288743 11:66521262-66521272 FND002 Fundus Dystrophy BBS1 NM_024649.5(BBS1):c.1473+2T>C SNV Likely pathogenic 866282 11:66297425-66297425 11:66529954-66529954 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.6355-2A>G SNV Likely pathogenic 866799 11:76923995-76923995 11:77212950-77212950 FND002 Fundus Dystrophy TUB NM_177972.3(TUB):c.1387+1G>A SNV Likely pathogenic 865971 11:8122545-8122545 11:8100998-8100998 FND002 Fundus Dystrophy HGSNAT NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu) SNV Likely pathogenic 1232 rs121908282 8:43028883-43028883 8:43173740-43173740 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) SNV Likely pathogenic 2355 rs121912599 1:216498834-216498834 1:216325492-216325492 FND002 Fundus Dystrophy CRX NM_000554.6(CRX):c.268C>T (p.Arg90Trp) SNV Likely pathogenic 7422 rs104894673 19:48342592-48342592 19:47839335-47839335 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.745G>T (p.Glu249Ter) SNV Likely pathogenic 13036 rs104893783 3:129251424-129251424 3:129532581-129532581 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.316G>T (p.Gly106Trp) SNV Likely pathogenic 13022 rs104893773 3:129247892-129247892 3:129529049-129529049 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.632A>C (p.His211Pro) SNV Likely pathogenic 13027 rs28933993 3:129251195-129251195 3:129532352-129532352 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.5208dup (p.Lys1737fs) duplication Likely pathogenic 43275 rs111033276 11:76914142-76914143 11:77203097-77203098 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.132+5G>A SNV Likely pathogenic 43140 rs397516284 11:76853873-76853873 11:77142827-77142827 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) SNV Likely pathogenic 43325 rs111033486 11:76867946-76867946 11:77156900-77156900 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.12295-3T>A SNV Likely pathogenic 48395 rs111033518 1:215848961-215848961 1:215675619-215675619 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.5857+2T>C SNV Likely pathogenic 48544 rs397518022 1:216246229-216246229 1:216072887-216072887 FND002 Fundus Dystrophy CLN3 NM_000086.2(CLN3):c.533+1G>A SNV Likely pathogenic 56278 rs386833728 16:28497898-28497898 16:28486577-28486577 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.1913C>T (p.Ser638Leu) SNV Likely pathogenic 73455 rs267598278 1:197390871-197390871 1:197421741-197421741 FND002 Fundus Dystrophy GUCY2D NM_000180.4(GUCY2D):c.2899del (p.His967fs) deletion Likely pathogenic 98579 rs61750183 17:7918774-7918774 17:8015456-8015456 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn) SNV Likely pathogenic 98671 rs61755787 6:42689604-42689604 6:42721866-42721866 FND002 Fundus Dystrophy MVK NM_000431.4(MVK):c.794T>G (p.Leu265Arg) SNV Likely pathogenic 97627 rs104895316 12:110029071-110029071 12:109591266-109591266 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp) SNV Likely pathogenic 98698 rs61755809 6:42672273-42672273 6:42704535-42704535 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln) SNV Likely pathogenic 98699 rs61755810 6:42672272-42672272 6:42704534-42704534 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.28+5G>A SNV Likely pathogenic 98772 rs62638626 X:38186588-38186588 X:38327335-38327335 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1120G>T (p.Glu374Ter) SNV Likely pathogenic 98729 rs62635001 X:38158334-38158334 X:38299081-38299081 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1245+3A>G SNV Likely pathogenic 98732 rs62635002 X:38158206-38158206 X:38298953-38298953 FND002 Fundus Dystrophy RS1 NM_003159.2(CDKL5):c.2714-1392G>A SNV Likely pathogenic 98943 rs61752145 X:18662735-18662735 X:18644615-18644615 FND002 Fundus Dystrophy RS1 NM_000330.3(RS1):c.35T>A (p.Leu12His) SNV Likely pathogenic 98946 rs62645879 X:18690154-18690154 X:18672034-18672034 FND002 Fundus Dystrophy RS1 NM_003159.2(CDKL5):c.2714-1515G>A SNV Likely pathogenic 98967 rs61753164 X:18662612-18662612 X:18644492-18644492 FND002 Fundus Dystrophy RS1 NM_003159.2(CDKL5):c.2714-3983A>G SNV Likely pathogenic 99015 rs281865369 X:18660144-18660144 X:18642024-18642024 FND002 Fundus Dystrophy RS1 NM_003159.2(CDKL5):c.2797+1172_2797+1174del deletion Likely pathogenic 98921 rs61750458 X:18665382-18665384 X:18647262-18647264 FND002 Fundus Dystrophy RPE65 NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln) SNV Likely pathogenic 98835 rs62636299 1:68897054-68897054 1:68431371-68431371 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2870A>G (p.Gln957Arg) SNV Likely pathogenic 99167 rs61749448 1:94512523-94512523 1:94046967-94046967 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2893A>G (p.Asn965Asp) SNV Likely pathogenic 99172 rs61749449 1:94512500-94512500 1:94046944-94046944 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3607+1G>A SNV Likely pathogenic 99231 rs61752421 1:94505598-94505598 1:94040042-94040042 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3703A>G (p.Asn1235Asp) SNV Likely pathogenic 99236 rs61752422 1:94502811-94502811 1:94037255-94037255 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1903C>A (p.Gln635Lys) SNV Likely pathogenic 99095 rs61749414 1:94528167-94528167 1:94062611-94062611 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.298T>C (p.Ser100Pro) SNV Likely pathogenic 99185 rs61748530 1:94576998-94576998 1:94111442-94111442 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser) SNV Likely pathogenic 99347 rs61748532 1:94568627-94568627 1:94103071-94103071 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5337C>G (p.Tyr1779Ter) SNV Likely pathogenic 99370 rs61750573 1:94480222-94480222 1:94014666-94014666 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6005+1G>T SNV Likely pathogenic 99425 rs61748517 1:94473189-94473189 1:94007633-94007633 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5395A>G (p.Asn1799Asp) SNV Likely pathogenic 99372 rs61750574 1:94480164-94480164 1:94014608-94014608 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5512C>T (p.His1838Tyr) SNV Likely pathogenic 99381 rs62642562 1:94476890-94476890 1:94011334-94011334 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5657G>A (p.Gly1886Glu) SNV Likely pathogenic 99394 rs62642579 1:94476413-94476413 1:94010857-94010857 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6229C>G (p.Arg2077Gly) SNV Likely pathogenic 99437 rs61750645 1:94467467-94467467 1:94001911-94001911 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6391G>A (p.Glu2131Lys) SNV Likely pathogenic 99457 rs61750652 1:94466480-94466480 1:94000924-94000924 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys) SNV Likely pathogenic 99471 rs61748538 1:94564460-94564460 1:94098904-94098904 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.693T>G (p.Ser231Arg) SNV Likely pathogenic 99742 rs281865244 11:61724915-61724915 11:61957443-61957443 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.38G>A (p.Arg13His) SNV Likely pathogenic 99717 rs281865209 11:61719316-61719316 11:61951844-61951844 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.421C>A (p.Arg141Ser) SNV Likely pathogenic 99721 rs281865236 11:61723363-61723363 11:61955891-61955891 FND002 Fundus Dystrophy TULP1 NM_003322.6(TULP1):c.1496-6C>A SNV Likely pathogenic 99666 rs281865171 6:35466243-35466243 6:35498466-35498466 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.240C>A (p.Phe80Leu) SNV Likely pathogenic 99695 rs281865221 11:61722666-61722666 11:61955194-61955194 FND002 Fundus Dystrophy CRX NM_000554.6(CRX):c.24dup (p.Pro9fs) duplication Likely pathogenic 99598 rs62636512 19:48337720-48337721 19:47834463-47834464 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg) SNV Likely pathogenic 99513 rs61748545 1:94546207-94546207 1:94080651-94080651 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro) SNV Likely pathogenic 99897 rs62636276 1:197404313-197404313 1:197435183-197435183 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.410G>A (p.Gly137Asp) SNV Likely pathogenic 143069 rs527236097 6:42689663-42689663 6:42721925-42721925 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.13466G>A (p.Gly4489Asp) SNV Likely pathogenic 143173 rs527236127 1:215847787-215847787 1:215674445-215674445 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.13847G>T (p.Gly4616Val) SNV Likely pathogenic 143174 rs527236124 1:215844600-215844600 1:215671258-215671258 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.490G>T (p.Val164Phe) SNV Likely pathogenic 143182 rs527236123 1:216592017-216592017 1:216418675-216418675 FND002 Fundus Dystrophy IMPG1 NM_001563.4(IMPG1):c.461T>C (p.Leu154Pro) SNV Likely pathogenic 162136 rs713993047 6:76744345-76744345 6:76034628-76034628 FND002 Fundus Dystrophy RLBP1 NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del) deletion Likely pathogenic 191289 rs786205626 15:89760400-89760411 15:89217169-89217180 FND002 Fundus Dystrophy RDH12 NM_152443.3(RDH12):c.59_62CATC[1] (p.Ile22fs) short repeat Likely pathogenic 203385 rs794729650 14:68189416-68189419 14:67722699-67722702 FND002 Fundus Dystrophy ZNF408 NM_024741.3(ZNF408):c.1621C>T (p.Arg541Cys) SNV Likely pathogenic 204317 rs781192528 11:46726871-46726871 11:46705321-46705321 FND002 Fundus Dystrophy RAX2 NM_032753.4(RAX2):c.465_475del (p.Ala156fs) deletion Likely pathogenic 208124 rs886041039 19:3770699-3770709 19:3770701-3770711 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.6446C>A (p.Pro2149Gln) SNV Likely pathogenic 224753 rs869312182 1:216173784-216173784 1:216000442-216000442 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs) indel Likely pathogenic 224746 rs869312180 1:216246601-216246601 1:216073259-216073259 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.4321G>T (p.Glu1441Ter) SNV Likely pathogenic 224757 rs869312186 1:216363640-216363640 1:216190298-216190298 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2713del (p.Glu905fs) deletion Likely pathogenic 224755 rs869312184 1:94514454-94514454 1:94048898-94048898 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.9277_9278dup (p.Arg3094fs) duplication Likely pathogenic 224759 rs869312188 6:64430648-64430649 6:63720752-63720753 FND002 Fundus Dystrophy PDE6B NM_000283.3(PDE6B):c.1678C>T (p.Arg560Cys) SNV Likely pathogenic 217798 rs201541131 4:655986-655986 4:662197-662197 FND002 Fundus Dystrophy CRX NM_000554.6(CRX):c.124G>A (p.Glu42Lys) SNV Likely pathogenic 216914 rs863224863 19:48339523-48339523 19:47836266-47836266 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2609C>T (p.Pro870Leu) SNV Likely pathogenic 236093 rs746566873 1:94517233-94517233 1:94051677-94051677 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.1612_1613insCTTA (p.Leu538fs) insertion Likely pathogenic 236470 rs878853364 1:197390570-197390571 1:197421440-197421441 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.807dup (p.Pro270fs) duplication Likely pathogenic 236472 rs878853366 1:197313563-197313564 1:197344433-197344434 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.2661C>G (p.Tyr887Ter) SNV Likely pathogenic 236539 rs878853408 1:216420075-216420075 1:216246733-216246733 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3098del (p.Lys1033fs) deletion Likely pathogenic 236516 rs878853397 1:94508984-94508984 1:94043428-94043428 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2566T>A (p.Tyr856Asn) SNV Likely pathogenic 236518 rs201223321 1:94520688-94520688 1:94055132-94055132 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1873C>T (p.Gln625Ter) SNV Likely pathogenic 236515 rs878853396 1:94528197-94528197 1:94062641-94062641 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.933_935delinsTT (p.Pro313fs) indel Likely pathogenic 236456 rs878853355 2:112725802-112725804 2:111968225-111968227 FND002 Fundus Dystrophy CERKL NM_201548.5(CERKL):c.193G>T (p.Glu65Ter) SNV Likely pathogenic 236492 rs201186440 2:182521541-182521541 2:181656814-181656814 FND002 Fundus Dystrophy FAM161A NM_001201543.2(FAM161A):c.1464G>A (p.Trp488Ter) SNV Likely pathogenic 236499 rs761440783 2:62066675-62066675 2:61839540-61839540 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.248G>A (p.Trp83Ter) SNV Likely pathogenic 236461 rs757470958 2:98996670-98996670 2:98380207-98380207 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.10612C>T (p.Arg3538Ter) SNV Likely pathogenic 236544 rs878853413 1:215955512-215955512 1:215782170-215782170 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.6470del (p.Arg2157fs) deletion Likely pathogenic 236545 rs878853414 1:216173760-216173760 1:216000418-216000418 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.3327C>A (p.Tyr1109Ter) SNV Likely pathogenic 236538 rs758705873 1:216373453-216373453 1:216200111-216200111 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.2833G>A (p.Gly945Arg) SNV Likely pathogenic 236475 rs749746650 1:197398735-197398735 1:197429605-197429605 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.2869C>T (p.Gln957Ter) SNV Likely pathogenic 236479 rs878853371 1:197403862-197403862 1:197434732-197434732 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.4159G>T (p.Glu1387Ter) SNV Likely pathogenic 236476 rs878853369 1:197446947-197446947 1:197477817-197477817 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.14350G>T (p.Glu4784Ter) SNV Likely pathogenic 236529 rs746837034 1:215822102-215822102 1:215648760-215648760 FND002 Fundus Dystrophy RP2 NM_006915.3(RP2):c.507del (p.Asn169fs) deletion Likely pathogenic 236490 rs878853381 X:46713315-46713315 X:46853880-46853880 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.808C>T (p.Gln270Ter) SNV Likely pathogenic 236482 rs878853374 X:38164014-38164014 X:38304761-38304761 FND002 Fundus Dystrophy CNGB1 NM_001297.5(CNGB1):c.262C>T (p.Gln88Ter) SNV Likely pathogenic 236512 rs878853394 16:57998062-57998062 16:57964158-57964158 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.400del (p.Asp134fs) deletion Likely pathogenic 236421 rs878853331 19:54625952-54625952 19:54122573-54122573 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.967G>T (p.Glu323Ter) SNV Likely pathogenic 236426 rs878853335 19:54631469-54631469 19:54128094-54128094 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.994C>T (p.Gln332Ter) SNV Likely pathogenic 236424 rs878853334 19:54631496-54631496 19:54128121-54128121 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.1060C>T (p.Arg354Ter) SNV Likely pathogenic 236425 rs868538598 19:54631562-54631562 19:54128187-54128187 FND002 Fundus Dystrophy TTLL5 NM_015072.5(TTLL5):c.1435C>T (p.Arg479Ter) SNV Likely pathogenic 290244 rs753018563 14:76211872-76211872 14:75745529-75745529 FND002 Fundus Dystrophy PRPF8 NM_006445.4(PRPF8):c.3910_3914del (p.Asn1304fs) deletion Likely pathogenic 236501 rs878853387 17:1565308-1565312 17:1662014-1662018 FND002 Fundus Dystrophy GUCY2D NM_000180.4(GUCY2D):c.380C>T (p.Pro127Leu) SNV Likely pathogenic 236436 rs878853343 17:7906745-7906745 17:8003427-8003427 FND002 Fundus Dystrophy GUCY2D NM_000180.4(GUCY2D):c.3175A>T (p.Arg1059Ter) SNV Likely pathogenic 236435 rs878853342 17:7919559-7919559 17:8016241-8016241 FND002 Fundus Dystrophy RPGRIP1 NM_020366.3(RPGRIP1):c.1303A>T (p.Lys435Ter) SNV Likely pathogenic 236506 rs878853392 14:21786006-21786006 14:21317847-21317847 FND002 Fundus Dystrophy RPGRIP1 NM_020366.3(RPGRIP1):c.1445T>A (p.Leu482Ter) SNV Likely pathogenic 236505 rs878853391 14:21788314-21788314 14:21320155-21320155 FND002 Fundus Dystrophy RPGRIP1 NM_020366.3(RPGRIP1):c.2007del (p.Val670fs) deletion Likely pathogenic 236504 rs878853390 14:21793021-21793021 14:21324862-21324862 FND002 Fundus Dystrophy RPGRIP1 NM_020366.3(RPGRIP1):c.2314C>T (p.Gln772Ter) SNV Likely pathogenic 236507 rs577932201 14:21793489-21793489 14:21325330-21325330 FND002 Fundus Dystrophy RPGRIP1 NM_020366.3(RPGRIP1):c.2608_2609insA (p.Leu870fs) insertion Likely pathogenic 236503 rs878853389 14:21794230-21794231 14:21326071-21326072 FND002 Fundus Dystrophy RDH12 NM_152443.3(RDH12):c.648_658+20del deletion Likely pathogenic 236434 rs878853341 14:68193896-68193926 14:67727179-67727209 FND002 Fundus Dystrophy SPATA7 NM_018418.5(SPATA7):c.1058dup (p.Ser354fs) duplication Likely pathogenic 236497 rs878853385 14:88897540-88897541 14:88431196-88431197 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.5500_5503TTCC[1] (p.Leu1835fs) short repeat Likely pathogenic 236441 rs878853348 5:89975421-89975424 5:90679604-90679607 FND002 Fundus Dystrophy CDH23 NM_022124.6(CDH23):c.2398-1G>T SNV Likely pathogenic 236429 rs751788879 10:73461778-73461778 10:71702021-71702021 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.4801C>T (p.Gln1601Ter) SNV Likely pathogenic 236465 rs878853361 12:88477635-88477635 12:88083858-88083858 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.3181_3182del (p.Met1061fs) deletion Likely pathogenic 236467 rs878853362 12:88487674-88487675 12:88093897-88093898 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.3628A>T (p.Lys1210Ter) SNV Likely pathogenic 236485 rs878853376 11:76900513-76900513 11:77189468-77189468 FND002 Fundus Dystrophy CDHR1 NM_033100.4(CDHR1):c.270dup (p.Thr91fs) duplication Likely pathogenic 236440 rs878853347 10:85956378-85956379 10:84196622-84196623 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.121T>C (p.Tyr41His) SNV Likely pathogenic 236413 rs746359399 8:55533647-55533647 8:54621087-54621087 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.742C>T (p.Gln248Ter) SNV Likely pathogenic 236417 rs769156393 8:55534803-55534803 8:54622243-54622243 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.1462del (p.Glu488fs) deletion Likely pathogenic 236415 rs878853327 8:55537904-55537904 8:54625344-54625344 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.1594_1597GAAA[1] (p.Arg533fs) short repeat Likely pathogenic 236418 rs878853329 8:55538035-55538038 8:54625475-54625478 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.2032C>T (p.Gln678Ter) SNV Likely pathogenic 236416 rs878853328 8:55538474-55538474 8:54625914-54625914 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.2309del (p.Pro770fs) deletion Likely pathogenic 236522 rs878853400 4:15985950-15985950 4:15984327-15984327 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.1697del (p.Asn566fs) deletion Likely pathogenic 236525 rs762078182 4:15995680-15995680 4:15994057-15994057 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.3634G>T (p.Glu1212Ter) SNV Likely pathogenic 236458 rs878853357 3:100947720-100947720 3:101228876-101228876 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.2412_2413del (p.Ser804_Ala805insTer) deletion Likely pathogenic 236459 rs878853358 3:100962762-100962763 3:101243918-101243919 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.68dup (p.Asp23fs) duplication Likely pathogenic 236460 rs768660614 3:101039148-101039149 3:101320304-101320305 FND002 Fundus Dystrophy CLRN1 NM_001195794.1(CLRN1):c.98G>A (p.Trp33Ter) SNV Likely pathogenic 236488 rs878853379 3:150690398-150690398 3:150972611-150972611 FND002 Fundus Dystrophy BBS7 NM_176824.3(BBS7):c.1712_1713delinsAGA (p.Ser571Ter) indel Likely pathogenic 236452 rs878853352 4:122749847-122749848 4:121828692-121828693 FND002 Fundus Dystrophy CNGA1 NM_000087.4(CNGA1):c.1540C>T (p.Arg514Ter) SNV Likely pathogenic 236443 rs199584830 4:47938971-47938971 4:47936954-47936954 FND002 Fundus Dystrophy VPS13B NM_017890.4(VPS13B):c.(?_-1)_(937+1_938-1)del deletion Likely pathogenic 375221 FND002 Fundus Dystrophy CNGB3 NM_019098.4(CNGB3):c.(990+1_991-1)_(1178+1_1179-1)del deletion Likely pathogenic 375222 FND002 Fundus Dystrophy VPS13B NM_017890.4(VPS13B):c.(5983+1_5984-1)_(7125+1_7126-1)dup duplication Likely pathogenic 375223 FND002 Fundus Dystrophy KCNV2 NM_133497.3(KCNV2):c.(?_-1)_(*1_?)del deletion Likely pathogenic 375225 FND002 Fundus Dystrophy PCDH15 NM_001142763.1(PCDH15):c.(?_-1)_(2235+1_2236-1)del deletion Likely pathogenic 375226 FND002 Fundus Dystrophy RPGRIP1 NM_020366.3(RPGRIP1):c.(3099+1_3100-1)_(3238+1_3239-1)del deletion Likely pathogenic 375227 FND002 Fundus Dystrophy CHM NM_000390.3(CHM):c.(?_-1)_(49+1_50-1)del deletion Likely pathogenic 375229 FND002 Fundus Dystrophy EYS NM_001142800.1(EYS):c.(2259+1_2260-1)_(2381+1_?)del deletion Likely pathogenic 375230 FND002 Fundus Dystrophy MERTK NM_006343.2(MERTK):c.(?_-1)_(1144+1_1145-1)del deletion Likely pathogenic 375231 FND002 Fundus Dystrophy CERKL NM_001030311.2(CERKL):c.(?_-1)_(481+1_482-1)del deletion Likely pathogenic 375232 FND002 Fundus Dystrophy PROM1 NM_006017.2(PROM1):c.(1578+1_1579-1)_(1911+1_1912-1)del deletion Likely pathogenic 375233 FND002 Fundus Dystrophy NMNAT1 NM_001297778.1(NMNAT1):c.(115+1_116-1)_(299+1_300-1)del deletion Likely pathogenic 375234 FND002 Fundus Dystrophy BEST1 NM_004183.3(BEST1):c.(?_-1)_(152+1_153-1)del deletion Likely pathogenic 375235 FND002 Fundus Dystrophy COL18A1 NM_030582.4(COL18A1):c.1469-2A>G SNV Likely pathogenic 373962 rs765919785 21:46897323-46897323 21:45477409-45477409 FND002 Fundus Dystrophy COL18A1 NM_030582.4(COL18A1):c.3979C>T (p.Arg1327Ter) SNV Likely pathogenic 373961 rs1057518802 21:46929468-46929468 21:45509554-45509554 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2537A>T (p.Asp846Val) SNV Likely pathogenic 389679 rs779466403 1:94520717-94520717 1:94055161-94055161 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1919C>T (p.Pro640Leu) SNV Likely pathogenic 377403 rs760790294 1:94528151-94528151 1:94062595-94062595 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6317G>A (p.Arg2106His) SNV Likely pathogenic 377409 rs1057520213 1:94466627-94466627 1:94001071-94001071 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.2081G>A (p.Cys694Tyr) SNV Likely pathogenic 418533 rs137954284 1:216424331-216424331 1:216250989-216250989 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu) SNV Likely pathogenic 417994 rs1064793014 1:94473263-94473263 1:94007707-94007707 FND002 Fundus Dystrophy CNGB1 NM_001297.5(CNGB1):c.2794+1G>A SNV Likely pathogenic 425109 rs770011113 16:57937725-57937725 16:57903821-57903821 FND002 Fundus Dystrophy CRX NM_000554.6(CRX):c.663C>A (p.Tyr221Ter) SNV Likely pathogenic 425193 rs1064797247 19:48342987-48342987 19:47839730-47839730 FND002 Fundus Dystrophy PDE6A NM_000440.3(PDE6A):c.1955_1974dup (p.Ile659fs) duplication Likely pathogenic 425359 rs773065850 5:149264094-149264095 5:149884531-149884532 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.4813-2A>G SNV Likely pathogenic 432415 rs369523378 12:88477009-88477009 12:88083232-88083232 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.254G>A (p.Cys85Tyr) SNV Likely pathogenic 438075 rs1553249226 1:197297735-197297735 1:197328605-197328605 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.1712A>C (p.Glu571Ala) SNV Likely pathogenic 438071 rs773233587 1:197390670-197390670 1:197421540-197421540 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1984dup (p.Ala662fs) duplication Likely pathogenic 438090 rs1553192432 1:94526268-94526269 1:94060712-94060713 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3299T>A (p.Ile1100Asn) SNV Likely pathogenic 438094 rs1553190559 1:94508346-94508346 1:94042790-94042790 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5018+5G>A SNV Likely pathogenic 438098 rs1553188588 1:94486791-94486791 1:94021235-94021235 FND002 Fundus Dystrophy RPE65 NM_000329.3(RPE65):c.74C>T (p.Pro25Leu) SNV Likely pathogenic 437985 rs199683808 1:68914327-68914327 1:68448644-68448644 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6098T>G (p.Leu2033Arg) SNV Likely pathogenic 438105 rs1553186896 1:94471046-94471046 1:94005490-94005490 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5315G>A (p.Trp1772Ter) SNV Likely pathogenic 438101 rs776757706 1:94480244-94480244 1:94014688-94014688 FND002 Fundus Dystrophy LRP2 NM_004525.3(LRP2):c.9733G>T (p.Asp3245Tyr) SNV Likely pathogenic 437989 rs759025536 2:170042125-170042125 2:169185615-169185615 FND002 Fundus Dystrophy LRP2 NM_004525.3(LRP2):c.4733G>C (p.Arg1578Pro) SNV Likely pathogenic 437988 rs111733491 2:170092537-170092537 2:169236027-169236027 FND002 Fundus Dystrophy CERKL NM_201548.5(CERKL):c.1269-3C>G SNV Likely pathogenic 438053 rs1553512879 2:182409526-182409526 2:181544799-181544799 FND002 Fundus Dystrophy CERKL NM_201548.5(CERKL):c.316C>A (p.Arg106Ser) SNV Likely pathogenic 438054 rs569826109 2:182468729-182468729 2:181604002-181604002 FND002 Fundus Dystrophy ALMS1 NM_015120.4(ALMS1):c.2958_2959insCTATTCTGGACTG (p.Gly987fs) insertion Likely pathogenic 437990 rs1553403585 2:73676609-73676610 2:73449482-73449483 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.712C>T (p.Gln238Ter) SNV Likely pathogenic 438107 rs1356104318 1:94564406-94564406 1:94098850-94098850 FND002 Fundus Dystrophy PDE6B NM_000283.3(PDE6B):c.1107+3A>G SNV Likely pathogenic 438188 rs370898371 4:650084-650084 4:656295-656295 FND002 Fundus Dystrophy IQCB1 NM_001023570.4(IQCB1):c.1278+1G>A SNV Likely pathogenic 438039 rs1553711564 3:121507130-121507130 3:121788283-121788283 FND002 Fundus Dystrophy HGSNAT NM_152419.3(HGSNAT):c.1542+4dup duplication Likely pathogenic 438150 rs1401818080 8:43052170-43052171 8:43197027-43197028 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.1498_1499del (p.Met500fs) deletion Likely pathogenic 437947 rs765129639 8:55537940-55537941 8:54625380-54625381 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.1211del (p.Asn404fs) deletion Likely pathogenic 438192 rs764163418 6:66094367-66094367 6:65384474-65384474 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.5317_5342delinsTA (p.Asn1773_Val1781delinsTer) indel Likely pathogenic 438198 rs1554183440 6:65300418-65300443 6:64590525-64590550 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.2976T>A (p.Cys992Ter) SNV Likely pathogenic 438195 rs1554214453 6:65596606-65596606 6:64886713-64886713 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.7994G>A (p.Gly2665Glu) SNV Likely pathogenic 438208 rs1435861529 6:64472431-64472431 6:63762538-63762538 FND002 Fundus Dystrophy GUCA1A NM_000409.4(GUCA1A):c.332A>C (p.Glu111Ala) SNV Likely pathogenic 438157 rs1554186385 6:42146148-42146148 6:42178410-42178410 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.664T>C (p.Cys222Arg) SNV Likely pathogenic 437967 rs1554269053 6:42672267-42672267 6:42704529-42704529 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.2656C>T (p.Gln886Ter) SNV Likely pathogenic 437956 rs1554519651 8:55539098-55539098 8:54626538-54626538 FND002 Fundus Dystrophy KCNV2 NM_133497.4(KCNV2):c.562T>A (p.Trp188Arg) SNV Likely pathogenic 438151 rs977790637 9:2718301-2718301 9:2718301-2718301 FND002 Fundus Dystrophy CDHR1 NM_033100.4(CDHR1):c.1448A>G (p.Glu483Gly) SNV Likely pathogenic 438115 rs1554857529 10:85970884-85970884 10:84211128-84211128 FND002 Fundus Dystrophy C1QTNF5 NM_001278431.2(C1QTNF5):c.569C>G (p.Ser190Trp) SNV Likely pathogenic 438183 rs906525288 11:119210204-119210204 11:119339494-119339494 FND002 Fundus Dystrophy C1QTNF5 NM_001278431.2(C1QTNF5):c.556C>T (p.Pro186Ser) SNV Likely pathogenic 438182 rs1555036138 11:119210217-119210217 11:119339507-119339507 FND002 Fundus Dystrophy NR2E3 NM_014249.4(NR2E3):c.305C>A (p.Ala102Asp) SNV Likely pathogenic 438227 rs772881093 15:72104165-72104165 15:71811825-71811825 FND002 Fundus Dystrophy CFAP410 NM_004928.3(CFAP410):c.269G>C (p.Arg90Pro) SNV Likely pathogenic 438158 rs567435284 21:45753020-45753020 21:44333137-44333137 FND002 Fundus Dystrophy CRX NM_000554.6(CRX):c.119G>A (p.Arg40Gln) SNV Likely pathogenic 437959 rs771450991 19:48339518-48339518 19:47836261-47836261 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.359del (p.Lys120fs) deletion Likely pathogenic 438045 rs1555792415 19:54625910-54625910 19:54122531-54122531 FND002 Fundus Dystrophy ABHD12 NM_001042472.3(ABHD12):c.620-2A>G SNV Likely pathogenic 438131 rs1555811525 20:25290213-25290213 20:25309577-25309577 FND002 Fundus Dystrophy CHM NM_000390.4(CHM):c.315-1536A>G SNV Likely pathogenic 438064 rs1555955061 X:85220593-85220593 X:85965588-85965588 FND002 Fundus Dystrophy CABP4 NM_145200.4(CABP4):c.800-18_*795del deletion Likely pathogenic 438232 rs1554998040 11:67226084-67226925 11:67458613-67459454 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.6726-2973_6834+548del deletion Likely pathogenic 438240 6:64708420-64712049 6:63998527-64002156 FND002 Fundus Dystrophy KCNV2 NM_133497.4(KCNV2):c.107_291dup (p.Thr98fs) duplication Likely pathogenic 438243 rs1554628460 9:2717843-2717844 9:2717843-2717844 FND002 Fundus Dystrophy MFRP deletion Likely pathogenic 438245 11:119217129-119223310 11:119346419-119352600 FND002 Fundus Dystrophy RDH12 deletion Likely pathogenic 438252 14:68176483-68197327 14:67709766-67730610 FND002 Fundus Dystrophy RLBP1 deletion Likely pathogenic 438253 15:89750128-89757489 15:89206897-89214258 FND002 Fundus Dystrophy COL18A1 NM_030582.4(COL18A1):c.2437-2A>G SNV Likely pathogenic 438060 rs778612831 21:46908330-46908330 21:45488416-45488416 FND002 Fundus Dystrophy COL18A1 NM_030582.4(COL18A1):c.2908C>T (p.Arg970Ter) SNV Likely pathogenic 438061 rs1555870809 21:46914474-46914474 21:45494560-45494560 FND002 Fundus Dystrophy COL18A1 NM_030582.4(COL18A1):c.3213del (p.Gly1072fs) deletion Likely pathogenic 438062 rs749009747 21:46917559-46917559 21:45497645-45497645 FND002 Fundus Dystrophy COL18A1 NM_030582.4(COL18A1):c.3364_3371del (p.Gly1122fs) deletion Likely pathogenic 438063 rs1555874538 21:46924435-46924442 21:45504521-45504528 FND002 Fundus Dystrophy TTC21B NM_024753.5(TTC21B):c.1320del (p.Phe440fs) deletion Likely pathogenic 446650 rs775836730 2:166785711-166785711 2:165929201-165929201 FND002 Fundus Dystrophy PRPS1 NM_002764.3(PRPS1):c.47C>T (p.Ser16Phe) SNV Likely pathogenic 446161 rs1556297584 X:106871905-106871905 X:107628675-107628675 FND002 Fundus Dystrophy PRPS1 NM_002764.3(PRPS1):c.586C>T (p.Arg196Trp) SNV Likely pathogenic 446162 rs1556300610 X:106888462-106888462 X:107645232-107645232 FND002 Fundus Dystrophy PRPS1 NM_002764.3(PRPS1):c.640C>T (p.Arg214Trp) SNV Likely pathogenic 446163 rs1556300621 X:106888516-106888516 X:107645286-107645286 FND002 Fundus Dystrophy PRPS1 NM_002764.3(PRPS1):c.641G>C (p.Arg214Pro) SNV Likely pathogenic 446164 rs867288458 X:106888517-106888517 X:107645287-107645287 FND002 Fundus Dystrophy INPP5E NM_019892.6(INPP5E):c.473del (p.Gly158fs) deletion Likely pathogenic 451128 rs779450345 9:139333399-139333399 9:136438947-136438947 FND002 Fundus Dystrophy ARL2BP NM_012106.4(ARL2BP):c.207+1G>A SNV Likely pathogenic 437946 rs199830550 16:57282556-57282556 16:57248644-57248644 FND002 Fundus Dystrophy MAK NM_001242957.3(MAK):c.156+2T>C SNV Likely pathogenic 498012 rs1201940872 6:10819117-10819117 6:10818884-10818884 FND002 Fundus Dystrophy RPGRIP1 NM_020366.3(RPGRIP1):c.2567_2568dup (p.Val857fs) duplication Likely pathogenic 523527 rs1555302200 14:21794188-21794189 14:21326029-21326030 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.241G>A (p.Val81Met) SNV Likely pathogenic 548451 rs1555098634 11:61722667-61722667 11:61955195-61955195 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.2231G>A (p.Cys744Tyr) SNV Likely pathogenic 546288 rs751035557 1:216420505-216420505 1:216247163-216247163 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.12602del (p.Gly4201fs) deletion Likely pathogenic 556604 rs1553252499 1:215848651-215848651 1:215675309-215675309 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.13811+1G>A SNV Likely pathogenic 556918 rs1177257719 1:215847441-215847441 1:215674099-215674099 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.12697_12698del (p.Trp4233fs) deletion Likely pathogenic 554725 rs764917754 1:215848555-215848556 1:215675213-215675214 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.11403_11404delinsTTT (p.Glu3802fs) indel Likely pathogenic 550024 rs1553257707 1:215916663-215916664 1:215743321-215743322 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.14582+1G>C SNV Likely pathogenic 549961 rs1553250150 1:215821869-215821869 1:215648527-215648527 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.4397-1G>A SNV Likely pathogenic 550873 rs199982344 1:216348825-216348825 1:216175483-216175483 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.9258+1G>T SNV Likely pathogenic 555604 rs748810737 1:216017635-216017635 1:215844293-215844293 FND002 Fundus Dystrophy ALMS1 NM_015120.4(ALMS1):c.8352_8355del (p.Lys2784_Glu2785insTer) deletion Likely pathogenic 552234 rs1553409710 2:73717433-73717436 2:73490306-73490309 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.4821G>A (p.Trp1607Ter) SNV Likely pathogenic 556041 rs745350407 1:216262419-216262419 1:216089077-216089077 FND002 Fundus Dystrophy BBS12 NM_152618.3(BBS12):c.760G>T (p.Glu254Ter) SNV Likely pathogenic 555983 rs1553941304 4:123663807-123663807 4:122742652-122742652 FND002 Fundus Dystrophy ALMS1 NM_015120.4(ALMS1):c.11703del (p.Lys3901fs) deletion Likely pathogenic 550013 rs1553421626 2:73827831-73827831 2:73600704-73600704 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.4393dup (p.Ala1465fs) duplication Likely pathogenic 552610 rs750840208 6:65301366-65301367 6:64591473-64591474 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.9166_9167del (p.Ile3056fs) deletion Likely pathogenic 558109 rs1165454778 6:64430760-64430761 6:63720864-63720865 FND002 Fundus Dystrophy BBS2 NM_031885.4(BBS2):c.2060-1G>T SNV Likely pathogenic 555474 rs1555520142 16:56518780-56518780 16:56484868-56484868 FND002 Fundus Dystrophy PDE6B NM_000283.3(PDE6B):c.837del (p.Asp279fs) deletion Likely pathogenic 560482 rs746141070 4:647766-647766 4:653977-653977 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.910C>T (p.Arg304Cys) SNV Likely pathogenic 560488 rs750340477 19:54629957-54629957 19:54126582-54126582 FND002 Fundus Dystrophy PEX1 NM_000466.3(PEX1):c.3115del (p.Thr1039fs) deletion Likely pathogenic 591802 rs1562846257 7:92122359-92122359 7:92493045-92493045 FND002 Fundus Dystrophy GNAT2 NM_005272.4(GNAT2):c.720+2T>C SNV Likely pathogenic 623280 rs1557918544 1:110148590-110148590 1:109605968-109605968 FND002 Fundus Dystrophy RPGRIP1 NM_020366.3(RPGRIP1):c.673del (p.His225fs) deletion Likely pathogenic 623224 rs752263228 14:21771573-21771573 14:21303414-21303414 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg) SNV Likely pathogenic 624249 rs373203896 6:64431148-64431148 6:63721252-63721252 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.630+2T>A SNV Likely pathogenic 636064 4:16026813-16026813 4:16025190-16025190 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.478C>T (p.Gln160Ter) SNV Likely pathogenic 636074 6:42689595-42689595 6:42721857-42721857 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1529T>G (p.Leu510Arg) SNV Likely pathogenic 635977 1:94543271-94543271 1:94077715-94077715 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.345C>G (p.Cys115Trp) SNV Likely pathogenic 636044 2:112686980-112686980 2:111929403-111929403 FND002 Fundus Dystrophy PDE6A NM_000440.3(PDE6A):c.1620+1G>A SNV Likely pathogenic 636054 5:149275918-149275918 5:149896355-149896355 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2895T>G (p.Asn965Lys) SNV Likely pathogenic 636146 1:94512498-94512498 1:94046942-94046942 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.7949C>T (p.Ser2650Phe) SNV Likely pathogenic 636169 6:64472476-64472476 6:63762583-63762583 FND002 Fundus Dystrophy CDH23 NM_022124.6(CDH23):c.4504C>T (p.Arg1502Ter) SNV Likely pathogenic 636160 10:73500594-73500594 10:71740837-71740837 FND002 Fundus Dystrophy PDE6B NM_000283.3(PDE6B):c.2140A>T (p.Met714Leu) SNV Likely pathogenic 684509 4:658680-658680 4:664891-664891 FND002 Fundus Dystrophy LCA5 NM_001122769.3(LCA5):c.190+1G>A SNV Likely pathogenic 639813 6:80228421-80228421 6:79518704-79518704 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.991_992AG[1] (p.Arg331fs) short repeat Likely pathogenic 806359 1:216498796-216498797 1:216325454-216325455 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.749-1G>C SNV Likely pathogenic 813182 6:66200601-66200601 6:65490708-65490708 FND002 Fundus Dystrophy VPS13B NM_017890.4(VPS13B):c.4820+1G>A SNV Likely pathogenic 812992 8:100533239-100533239 8:99521011-99521011 FND002 Fundus Dystrophy VPS13B NM_017890.4(VPS13B):c.11774_11777dup (p.Val3928fs) duplication Likely pathogenic 812993 8:100883875-100883876 8:99871647-99871648 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs) indel Likely pathogenic 813116 1:215808017-215808035 1:215634675-215634693 FND002 Fundus Dystrophy NMNAT1 NM_022787.4(NMNAT1):c.680G>A (p.Arg227Gln) SNV Likely pathogenic 813196 1:10042599-10042599 1:9982541-9982541 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4254-1G>A SNV Likely pathogenic 812204 1:94496083-94496083 1:94030527-94030527 FND002 Fundus Dystrophy CABP4 NM_145200.4(CABP4):c.757C>T (p.Arg253Ter) SNV Likely pathogenic 812242 11:67225947-67225947 11:67458476-67458476 FND002 Fundus Dystrophy PRPH2 NC_000006.12:g.42704380_42704382GAG[1] short repeat Likely pathogenic 812384 6:42672118-42672120 6:42704380-42704382 FND002 Fundus Dystrophy RPE65 NM_000329.3(RPE65):c.617T>C (p.Ile206Thr) SNV Likely pathogenic 829832 1:68906562-68906562 1:68440879-68440879 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+542del deletion Likely pathogenic 813090 X:38145805-38145805 X:38286552-38286552 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.7899C>A (p.Tyr2633Ter) SNV Likely pathogenic 817535 6:64472526-64472526 6:63762633-63762633 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.7578+1G>A SNV Likely pathogenic 847758 6:64498950-64498950 6:63789057-63789057 FND002 Fundus Dystrophy SAG NM_000541.5(SAG):c.182-2A>G SNV Likely pathogenic 851115 2:234229274-234229274 2:233320628-233320628 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.4006-10A>G SNV Likely pathogenic 851764 1:197446784-197446784 1:197477654-197477654 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.15297+1G>C SNV Likely pathogenic 845053 1:215807800-215807800 1:215634458-215634458 FND002 Fundus Dystrophy PHYH NM_006214.4(PHYH):c.497-2A>G SNV Likely pathogenic 853270 10:13330543-13330543 10:13288543-13288543 FND002 Fundus Dystrophy PDE6B NM_001145291.1(PDE6B):c.2353-18_2354del deletion Likely pathogenic 858775 4:661625-661644 4:667836-667855 FND002 Fundus Dystrophy PRPF3 NM_004698.4(PRPF3):c.1345C>G (p.Arg449Gly) SNV Likely pathogenic 866840 1:150315847-150315847 1:150343371-150343371 FND002 Fundus Dystrophy PRPF3 NM_004698.4(PRPF3):c.1532A>C (p.His511Pro) SNV Likely pathogenic 866476 1:150316915-150316915 1:150344439-150344439 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.3568+1G>A SNV Likely pathogenic 841931 6:65336013-65336013 6:64626120-64626120 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.2381+1G>A SNV Likely pathogenic 836950 6:65655685-65655685 6:64945792-64945792 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.2694+1G>A SNV Likely pathogenic 849727 11:76891528-76891528 11:77180482-77180482 FND002 Fundus Dystrophy CEP78 NM_001330691.3(CEP78):c.778+1G>A SNV Likely pathogenic 837507 9:80858553-80858553 9:78243637-78243637 FND002 Fundus Dystrophy IFT140 NM_014714.4(IFT140):c.2767_2768+2del deletion Likely pathogenic 863072 16:1575886-1575889 16:1525885-1525888 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.199_200TG[1] (p.Cys67_Asp68delinsTer) short repeat Likely pathogenic 867214 1:197297680-197297681 1:197328550-197328551 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.1348T>C (p.Cys450Arg) SNV Likely pathogenic 865858 1:197390306-197390306 1:197421176-197421176 FND002 Fundus Dystrophy SEMA4A NM_022367.4(SEMA4A):c.1122_1123dup (p.Arg375fs) duplication Likely pathogenic 865853 1:156132869-156132870 1:156163078-156163079 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.2138C>T (p.Ala713Val) SNV Likely pathogenic 867178 1:197396593-197396593 1:197427463-197427463 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.3451G>T (p.Gly1151Ter) SNV Likely pathogenic 866662 1:197404444-197404444 1:197435314-197435314 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.3506G>A (p.Trp1169Ter) SNV Likely pathogenic 866525 1:197404499-197404499 1:197435369-197435369 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.3520_3521TG[1] (p.Cys1174_Glu1175delinsTer) short repeat Likely pathogenic 866950 1:197404513-197404514 1:197435383-197435384 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.3653G>T (p.Cys1218Phe) SNV Likely pathogenic 866855 1:197404646-197404646 1:197435516-197435516 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.2497G>C (p.Gly833Arg) SNV Likely pathogenic 866264 1:197396952-197396952 1:197427822-197427822 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.12913del (p.Met4305fs) deletion Likely pathogenic 865815 1:215848340-215848340 1:215674998-215674998 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.12409del (p.Arg4137fs) deletion Likely pathogenic 866897 1:215848844-215848844 1:215675502-215675502 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.12300C>A (p.Tyr4100Ter) SNV Likely pathogenic 866677 1:215848953-215848953 1:215675611-215675611 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.12252del (p.Leu4085fs) deletion Likely pathogenic 867127 1:215853533-215853533 1:215680191-215680191 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.13595_13596del (p.Pro4532fs) deletion Likely pathogenic 865801 1:215847657-215847658 1:215674315-215674316 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.15119_15120dup (p.Leu5041fs) duplication Likely pathogenic 865970 1:215807977-215807978 1:215634635-215634636 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.14870_14901del (p.Leu4957fs) deletion Likely pathogenic 866362 1:215813967-215813998 1:215640625-215640656 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.13268C>A (p.Ala4423Asp) SNV Likely pathogenic 866731 1:215847985-215847985 1:215674643-215674643 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.3101G>A (p.Trp1034Ter) SNV Likely pathogenic 867209 1:197404094-197404094 1:197434964-197434964 FND002 Fundus Dystrophy FLVCR1 NM_014053.4(FLVCR1):c.539del (p.Gly180fs) deletion Likely pathogenic 867175 1:213032331-213032331 1:212858989-212858989 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.14649del (p.Ile4883fs) deletion Likely pathogenic 866663 1:215821006-215821006 1:215647664-215647664 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.14125dup (p.Glu4709fs) duplication Likely pathogenic 866573 1:215844321-215844322 1:215670979-215670980 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.14019C>A (p.Tyr4673Ter) SNV Likely pathogenic 866969 1:215844428-215844428 1:215671086-215671086 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.13942_13943delinsT (p.Gly4648fs) indel Likely pathogenic 865849 1:215844504-215844505 1:215671162-215671163 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.1277dup (p.Asn426fs) duplication Likely pathogenic 867042 1:216497560-216497561 1:216324218-216324219 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.1236G>A (p.Trp412Ter) SNV Likely pathogenic 865802 1:216497602-216497602 1:216324260-216324260 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.725dup (p.Ser243fs) duplication Likely pathogenic 866898 1:216538353-216538354 1:216365011-216365012 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.685G>C (p.Gly229Arg) SNV Likely pathogenic 867025 1:216538394-216538394 1:216365052-216365052 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.2761del (p.Leu921fs) deletion Likely pathogenic 866924 1:216419975-216419975 1:216246633-216246633 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.2649dup (p.Pro884fs) duplication Likely pathogenic 866539 1:216420086-216420087 1:216246744-216246745 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.2293del (p.Gln765fs) deletion Likely pathogenic 866130 1:216420443-216420443 1:216247101-216247101 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter) SNV Likely pathogenic 866467 1:216420549-216420549 1:216247207-216247207 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.2983_2984del (p.Gln995fs) deletion Likely pathogenic 867126 1:216405304-216405305 1:216231962-216231963 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.1672del (p.Asp558fs) deletion Likely pathogenic 866974 1:216465685-216465685 1:216292343-216292343 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.1450C>T (p.Gln484Ter) SNV Likely pathogenic 867100 1:216496916-216496916 1:216323574-216323574 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.4823_4835del (p.His1608fs) deletion Likely pathogenic 865832 1:216262405-216262417 1:216089063-216089075 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.6925T>G (p.Cys2309Gly) SNV Likely pathogenic 865972 1:216143999-216143999 1:215970657-215970657 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.7940del (p.Pro2647fs) deletion Likely pathogenic 866398 1:216062051-216062051 1:215888709-215888709 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.6835G>C (p.Asp2279His) SNV Likely pathogenic 867223 1:216144089-216144089 1:215970747-215970747 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.9691C>T (p.Gln3231Ter) SNV Likely pathogenic 866669 1:215987126-215987126 1:215813784-215813784 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.9307del (p.Ile3103fs) deletion Likely pathogenic 866968 1:216011397-216011397 1:215838055-215838055 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.8859del (p.Gln2954fs) deletion Likely pathogenic 866834 1:216019362-216019362 1:215846020-215846020 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.8659dup (p.Tyr2887fs) duplication Likely pathogenic 866092 1:216051121-216051122 1:215877779-215877780 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.11895del (p.Gln3966fs) deletion Likely pathogenic 866259 1:215901543-215901543 1:215728201-215728201 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.11336del (p.Tyr3779fs) deletion Likely pathogenic 865899 1:215931990-215931990 1:215758648-215758648 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.11189del (p.Glu3730fs) deletion Likely pathogenic 866986 1:215933044-215933044 1:215759702-215759702 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.10998C>A (p.Cys3666Ter) SNV Likely pathogenic 866748 1:215940072-215940072 1:215766730-215766730 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.10407C>A (p.Tyr3469Ter) SNV Likely pathogenic 866009 1:215956258-215956258 1:215782916-215782916 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.2418C>A (p.Asn806Lys) SNV Likely pathogenic 865966 2:112779903-112779903 2:112022326-112022326 FND002 Fundus Dystrophy AGBL5 NM_021831.6(AGBL5):c.1114del (p.Gln372fs) deletion Likely pathogenic 866072 2:27278754-27278754 2:27055886-27055886 FND002 Fundus Dystrophy IFT172 NM_015662.3(IFT172):c.3850C>T (p.Arg1284Ter) SNV Likely pathogenic 866056 2:27676352-27676352 2:27453485-27453485 FND002 Fundus Dystrophy PCARE NM_001029883.3(PCARE):c.2782_2788CCAGCCA[3] (p.Gln932fs) short repeat Likely pathogenic 865922 2:29294332-29294333 2:29071466-29071467 FND002 Fundus Dystrophy PCARE NM_001029883.3(PCARE):c.2751del (p.Arg918fs) deletion Likely pathogenic 866857 2:29294377-29294377 2:29071511-29071511 FND002 Fundus Dystrophy PCARE NM_001029883.3(PCARE):c.2665dup (p.Leu889fs) duplication Likely pathogenic 865994 2:29294462-29294463 2:29071596-29071597 FND002 Fundus Dystrophy CERKL NM_201548.5(CERKL):c.566_569delinsGTG (p.Lys189fs) indel Likely pathogenic 866309 2:182438524-182438527 2:181573797-181573800 FND002 Fundus Dystrophy CERKL NM_201548.5(CERKL):c.550C>T (p.Gln184Ter) SNV Likely pathogenic 866058 2:182438543-182438543 2:181573816-181573816 FND002 Fundus Dystrophy CERKL NM_201548.5(CERKL):c.419T>C (p.Leu140Pro) SNV Likely pathogenic 865914 2:182468626-182468626 2:181603899-181603899 FND002 Fundus Dystrophy PCARE NM_001029883.3(PCARE):c.1984dup (p.Thr662fs) duplication Likely pathogenic 867166 2:29295143-29295144 2:29072277-29072278 FND002 Fundus Dystrophy PCARE NM_001029883.3(PCARE):c.1883_1887del (p.Ala628fs) deletion Likely pathogenic 865992 2:29295241-29295245 2:29072375-29072379 FND002 Fundus Dystrophy CERKL NM_201548.5(CERKL):c.252T>A (p.Tyr84Ter) SNV Likely pathogenic 865865 2:182468793-182468793 2:181604066-181604066 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.1672C>T (p.Arg558Ter) SNV Likely pathogenic 866904 2:112758845-112758845 2:112001268-112001268 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.2164C>G (p.Arg722Gly) SNV Likely pathogenic 866123 2:112777074-112777074 2:112019497-112019497 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.2041_2044ACTT[2] (p.Leu683fs) short repeat Likely pathogenic 865869 2:112767604-112767607 2:112010027-112010030 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.2365_2367del (p.Asn789del) deletion Likely pathogenic 866672 1:197396819-197396821 1:197427689-197427691 FND002 Fundus Dystrophy NMNAT1 NM_022787.4(NMNAT1):c.104T>C (p.Met35Thr) SNV Likely pathogenic 866962 1:10032235-10032235 1:9972177-9972177 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.368_369del (p.Tyr123fs) deletion Likely pathogenic 865904 2:112687003-112687004 2:111929426-111929427 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.604C>T (p.Gln202Ter) SNV Likely pathogenic 865846 2:112704991-112704991 2:111947414-111947414 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.1650del (p.Ile550fs) deletion Likely pathogenic 865891 2:112758823-112758823 2:112001246-112001246 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1192dup (p.Ile398fs) duplication Likely pathogenic 866012 1:94544924-94544925 1:94079368-94079369 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1016G>A (p.Trp339Ter) SNV Likely pathogenic 866830 1:94546117-94546117 1:94080561-94080561 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.53G>C (p.Arg18Pro) SNV Likely pathogenic 866562 1:94586549-94586549 1:94120993-94120993 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1726G>C (p.Asp576His) SNV Likely pathogenic 865882 1:94528702-94528702 1:94063146-94063146 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1851_1860del (p.Ile619fs) deletion Likely pathogenic 866871 1:94528210-94528219 1:94062654-94062663 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3379G>A (p.Gly1127Arg) SNV Likely pathogenic 866471 1:94506908-94506908 1:94041352-94041352 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3302G>A (p.Trp1101Ter) SNV Likely pathogenic 866434 1:94508343-94508343 1:94042787-94042787 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5929G>C (p.Gly1977Arg) SNV Likely pathogenic 867115 1:94473266-94473266 1:94007710-94007710 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5915del (p.Gly1972fs) deletion Likely pathogenic 865807 1:94473280-94473280 1:94007724-94007724 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5846del (p.Gly1949fs) deletion Likely pathogenic 865843 1:94473843-94473843 1:94008287-94008287 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5580del (p.Phe1861fs) deletion Likely pathogenic 866245 1:94476822-94476822 1:94011266-94011266 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5773A>G (p.Arg1925Gly) SNV Likely pathogenic 867049 1:94474369-94474369 1:94008813-94008813 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5203del (p.Tyr1735fs) deletion Likely pathogenic 866980 1:94481404-94481404 1:94015848-94015848 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6213C>G (p.Tyr2071Ter) SNV Likely pathogenic 866298 1:94467483-94467483 1:94001927-94001927 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6510dup (p.Ile2171fs) duplication Likely pathogenic 866383 1:94463635-94463636 1:93998079-93998080 FND002 Fundus Dystrophy NPHP4 NM_015102.5(NPHP4):c.2444dup (p.Val816fs) duplication Likely pathogenic 867139 1:5947386-5947387 1:5887326-5887327 FND002 Fundus Dystrophy RPE65 NM_000329.3(RPE65):c.1309C>T (p.Leu437Phe) SNV Likely pathogenic 866422 1:68896994-68896994 1:68431311-68431311 FND002 Fundus Dystrophy RPE65 NM_000329.3(RPE65):c.302C>T (p.Thr101Ile) SNV Likely pathogenic 865946 1:68910510-68910510 1:68444827-68444827 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5059A>T (p.Ile1687Phe) SNV Likely pathogenic 865833 1:94485275-94485275 1:94019719-94019719 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5137_5138delinsAG (p.Gln1713Arg) indel Likely pathogenic 866082 1:94485196-94485197 1:94019640-94019641 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4880del (p.Leu1627fs) deletion Likely pathogenic 866120 1:94486934-94486934 1:94021378-94021378 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4773G>T (p.Gly1591=) SNV Likely pathogenic 866944 1:94487402-94487402 1:94021846-94021846 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4715_4718dup (p.Glu1574fs) duplication Likely pathogenic 866198 1:94487456-94487457 1:94021900-94021901 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4667G>C (p.Arg1556Thr) SNV Likely pathogenic 866739 1:94488942-94488942 1:94023386-94023386 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4654dup (p.Val1552fs) duplication Likely pathogenic 865893 1:94488954-94488955 1:94023398-94023399 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4505G>T (p.Cys1502Phe) SNV Likely pathogenic 866714 1:94495035-94495035 1:94029479-94029479 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4468T>G (p.Cys1490Gly) SNV Likely pathogenic 866086 1:94495072-94495072 1:94029516-94029516 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4336_4339AAGG[1] (p.Glu1447fs) short repeat Likely pathogenic 866643 1:94495993-94495996 1:94030437-94030440 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4312C>G (p.Pro1438Ala) SNV Likely pathogenic 866870 1:94496024-94496024 1:94030468-94030468 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4309A>T (p.Lys1437Ter) SNV Likely pathogenic 866062 1:94496027-94496027 1:94030471-94030471 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3413T>C (p.Leu1138Pro) SNV Likely pathogenic 866229 1:94506874-94506874 1:94041318-94041318 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3407G>A (p.Gly1136Glu) SNV Likely pathogenic 866879 1:94506880-94506880 1:94041324-94041324 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3386G>A (p.Arg1129His) SNV Likely pathogenic 865964 1:94506901-94506901 1:94041345-94041345 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3279C>A (p.Asp1093Glu) SNV Likely pathogenic 866345 1:94508366-94508366 1:94042810-94042810 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3233_3234GA[1] (p.Asp1079fs) short repeat Likely pathogenic 866417 1:94508409-94508410 1:94042853-94042854 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2791G>T (p.Val931Leu) SNV Likely pathogenic 865894 1:94512602-94512602 1:94047046-94047046 FND002 Fundus Dystrophy SNRNP200 NM_014014.5(SNRNP200):c.2044C>T (p.Pro682Ser) SNV Likely pathogenic 866863 2:96958826-96958826 2:96293088-96293088 FND002 Fundus Dystrophy SNRNP200 NM_014014.5(SNRNP200):c.1625C>T (p.Ala542Val) SNV Likely pathogenic 867016 2:96962320-96962320 2:96296582-96296582 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.787T>G (p.Tyr263Asp) SNV Likely pathogenic 866862 2:99012420-99012420 2:98395957-98395957 FND002 Fundus Dystrophy CNNM4 NM_020184.4(CNNM4):c.648dup (p.Val217fs) duplication Likely pathogenic 866091 2:97427383-97427384 2:96761646-96761647 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.332_333delinsAA (p.Ser111Ter) indel Likely pathogenic 866218 2:98996754-98996755 2:98380291-98380292 FND002 Fundus Dystrophy ALMS1 NM_001378454.1(ALMS1):c.10933C>T (p.Gln3645Ter) SNV Likely pathogenic 866528 2:73799937-73799937 2:73572810-73572810 FND002 Fundus Dystrophy ALMS1 NM_001378454.1(ALMS1):c.11083dup (p.Ser3695fs) duplication Likely pathogenic 865872 2:73800080-73800081 2:73572953-73572954 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.3113G>T (p.Cys1038Phe) SNV Likely pathogenic 866317 3:100951745-100951745 3:101232901-101232901 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.3008_3009del (p.Leu1003fs) deletion Likely pathogenic 867047 3:100961545-100961546 3:101242701-101242702 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.3003_3004delinsAC (p.Tyr1001_Ser1002delinsTer) indel Likely pathogenic 867193 3:100961550-100961551 3:101242706-101242707 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.2973C>A (p.Tyr991Ter) SNV Likely pathogenic 865823 3:100961581-100961581 3:101242737-101242737 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.1126G>A (p.Glu376Lys) SNV Likely pathogenic 866210 2:99012759-99012759 2:98396296-98396296 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.1271T>C (p.Met424Thr) SNV Likely pathogenic 866443 2:99012904-99012904 2:98396441-98396441 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.1580T>C (p.Leu527Pro) SNV Likely pathogenic 867086 2:99013213-99013213 2:98396750-98396750 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.1611G>A (p.Gln537=) SNV Likely pathogenic 866315 2:99013244-99013244 2:98396781-98396781 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.1686C>A (p.Asn562Lys) SNV Likely pathogenic 865797 2:99013319-99013319 2:98396856-98396856 FND002 Fundus Dystrophy ALMS1 NM_001378454.1(ALMS1):c.8811T>G (p.Tyr2937Ter) SNV Likely pathogenic 866226 2:73717897-73717897 2:73490770-73490770 FND002 Fundus Dystrophy ALMS1 NM_001378454.1(ALMS1):c.9084T>A (p.Cys3028Ter) SNV Likely pathogenic 866057 2:73718170-73718170 2:73491043-73491043 FND002 Fundus Dystrophy ALMS1 NM_001378454.1(ALMS1):c.5169dup (p.Gln1724fs) duplication Likely pathogenic 866267 2:73678821-73678822 2:73451694-73451695 FND002 Fundus Dystrophy ALMS1 NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter) SNV Likely pathogenic 866994 2:73679106-73679106 2:73451979-73451979 FND002 Fundus Dystrophy CERKL NM_201548.5(CERKL):c.1566T>G (p.Tyr522Ter) SNV Likely pathogenic 866584 2:182402944-182402944 2:181538217-181538217 FND002 Fundus Dystrophy ALMS1 NM_001378454.1(ALMS1):c.857C>G (p.Ser286Ter) SNV Likely pathogenic 866803 2:73651650-73651650 2:73424522-73424522 FND002 Fundus Dystrophy PCARE NM_001029883.3(PCARE):c.958del (p.Arg320fs) deletion Likely pathogenic 866068 2:29296170-29296170 2:29073304-29073304 FND002 Fundus Dystrophy PCARE NM_001029883.3(PCARE):c.402_405del (p.Ser134fs) deletion Likely pathogenic 866401 2:29296723-29296726 2:29073857-29073860 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.1034T>A (p.Val345Glu) SNV Likely pathogenic 866976 3:129252548-129252548 3:129533705-129533705 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.1045T>C (p.Ter349Gln) SNV Likely pathogenic 866186 3:129252559-129252559 3:129533716-129533716 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.647T>G (p.Met216Arg) SNV Likely pathogenic 866926 3:129251210-129251210 3:129532367-129532367 FND002 Fundus Dystrophy CLRN1 NM_001195794.1(CLRN1):c.165del (p.Asp55fs) deletion Likely pathogenic 866927 3:150690331-150690331 3:150972544-150972544 FND002 Fundus Dystrophy CLRN1 NM_001195794.1(CLRN1):c.154C>T (p.Gln52Ter) SNV Likely pathogenic 865795 3:150690342-150690342 3:150972555-150972555 FND002 Fundus Dystrophy OPA1 NM_130831.3(OPA1):c.635T>A (p.Leu212Ter) SNV Likely pathogenic 866156 3:193353271-193353271 3:193635482-193635482 FND002 Fundus Dystrophy GNAT1 NM_144499.3(GNAT1):c.282del (p.Ala95fs) deletion Likely pathogenic 866860 3:50230830-50230830 3:50193397-50193397 FND002 Fundus Dystrophy RAB28 NM_001017979.3(RAB28):c.502del (p.Leu168fs) deletion Likely pathogenic 866668 4:13378240-13378240 4:13376616-13376616 FND002 Fundus Dystrophy BBS12 NM_152618.3(BBS12):c.789C>A (p.Tyr263Ter) SNV Likely pathogenic 867113 4:123663836-123663836 4:122742681-122742681 FND002 Fundus Dystrophy BBS12 NM_152618.3(BBS12):c.1394T>C (p.Val465Ala) SNV Likely pathogenic 866376 4:123664441-123664441 4:122743286-122743286 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.2373G>T (p.Leu791Phe) SNV Likely pathogenic 866745 4:15985886-15985886 4:15984263-15984263 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.1414C>T (p.Arg472Ter) SNV Likely pathogenic 866793 4:16008201-16008201 4:16006578-16006578 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.1238T>A (p.Val413Asp) SNV Likely pathogenic 866784 4:16010635-16010635 4:16009012-16009012 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.532T>C (p.Tyr178His) SNV Likely pathogenic 867225 3:129251095-129251095 3:129532252-129532252 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.538C>G (p.Pro180Ala) SNV Likely pathogenic 865884 3:129251101-129251101 3:129532258-129532258 FND002 Fundus Dystrophy ALMS1 NM_001378454.1(ALMS1):c.4496_4497CT[1] (p.Leu1500fs) short repeat Likely pathogenic 866249 2:73678149-73678150 2:73451022-73451023 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.325G>A (p.Gly109Arg) SNV Likely pathogenic 866181 3:129247901-129247901 3:129529058-129529058 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.172_173delinsTA (p.Thr58Ter) indel Likely pathogenic 866835 3:129247748-129247749 3:129528905-129528906 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.1263G>A (p.Trp421Ter) SNV Likely pathogenic 866148 3:100964926-100964926 3:101246082-101246082 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.922del (p.Tyr308fs) deletion Likely pathogenic 866387 3:100976604-100976604 3:101257760-101257760 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.854dup (p.Gly286fs) duplication Likely pathogenic 865917 3:100988391-100988392 3:101269547-101269548 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.826G>T (p.Glu276Ter) SNV Likely pathogenic 866788 3:100992427-100992427 3:101273583-101273583 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.2867dup (p.Asn956fs) duplication Likely pathogenic 866240 3:100961686-100961687 3:101242842-101242843 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.2440C>T (p.Gln814Ter) SNV Likely pathogenic 866217 3:100962735-100962735 3:101243891-101243891 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.1739T>G (p.Leu580Ter) SNV Likely pathogenic 866757 3:100963436-100963436 3:101244592-101244592 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.1589C>A (p.Ser530Ter) SNV Likely pathogenic 865937 3:100963586-100963586 3:101244742-101244742 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.1328_1335del (p.Ser443fs) deletion Likely pathogenic 866649 3:100964854-100964861 3:101246010-101246017 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.727G>C (p.Ala243Pro) SNV Likely pathogenic 866736 3:100992526-100992526 3:101273682-101273682 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.572C>G (p.Ser191Ter) SNV Likely pathogenic 866954 3:100995519-100995519 3:101276675-101276675 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.411G>A (p.Trp137Ter) SNV Likely pathogenic 866386 3:101023080-101023080 3:101304236-101304236 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.9261dup (p.Gly3088fs) duplication Likely pathogenic 866400 6:64430665-64430666 6:63720769-63720770 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.8522_8525del (p.Pro2841fs) deletion Likely pathogenic 866728 6:64431402-64431405 6:63721506-63721509 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.537G>T (p.Trp179Cys) SNV Likely pathogenic 866955 6:42689536-42689536 6:42721798-42721798 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.518A>G (p.Asp173Gly) SNV Likely pathogenic 866675 6:42689555-42689555 6:42721817-42721817 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.476T>G (p.Leu159Arg) SNV Likely pathogenic 867057 6:42689597-42689597 6:42721859-42721859 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.962_963AG[1] (p.Ser322fs) short repeat Likely pathogenic 867132 6:42666109-42666110 6:42698371-42698372 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.937_938del (p.Pro313fs) deletion Likely pathogenic 866600 6:42666136-42666137 6:42698398-42698399 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.246C>A (p.Cys82Ter) SNV Likely pathogenic 865978 6:42689827-42689827 6:42722089-42722089 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.28C>T (p.Gln10Ter) SNV Likely pathogenic 865760 6:42690045-42690045 6:42722307-42722307 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.903_906del (p.Ser301fs) deletion Likely pathogenic 866239 6:42666168-42666171 6:42698430-42698433 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.665G>T (p.Cys222Phe) SNV Likely pathogenic 865759 6:42672266-42672266 6:42704528-42704528 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.665G>C (p.Cys222Ser) SNV Likely pathogenic 866971 6:42672266-42672266 6:42704528-42704528 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.665G>A (p.Cys222Tyr) SNV Likely pathogenic 866753 6:42672266-42672266 6:42704528-42704528 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.771C>G (p.Tyr257Ter) SNV Likely pathogenic 866802 6:42672160-42672160 6:42704422-42704422 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.765_769del (p.Ser256fs) deletion Likely pathogenic 866667 6:42672162-42672166 6:42704424-42704428 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.749G>T (p.Cys250Phe) SNV Likely pathogenic 865855 6:42672182-42672182 6:42704444-42704444 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.743del (p.Arg248fs) deletion Likely pathogenic 866641 6:42672188-42672188 6:42704450-42704450 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.708C>G (p.Tyr236Ter) SNV Likely pathogenic 866925 6:42672223-42672223 6:42704485-42704485 FND002 Fundus Dystrophy TULP1 NM_003322.6(TULP1):c.246_247del (p.Pro84fs) deletion Likely pathogenic 866034 6:35479527-35479528 6:35511750-35511751 FND002 Fundus Dystrophy TULP1 NM_003322.6(TULP1):c.100C>T (p.Arg34Ter) SNV Likely pathogenic 867084 6:35480047-35480047 6:35512270-35512270 FND002 Fundus Dystrophy GUCA1A NM_000409.5(GUCA1A):c.299A>G (p.Asp100Gly) SNV Likely pathogenic 867021 6:42146115-42146115 6:42178377-42178377 FND002 Fundus Dystrophy AHI1 NM_001134831.2(AHI1):c.2250_2251del (p.Cys751fs) deletion Likely pathogenic 866290 6:135754180-135754181 6:135433042-135433043 FND002 Fundus Dystrophy TULP1 NM_003322.6(TULP1):c.1318C>T (p.Arg440Ter) SNV Likely pathogenic 866967 6:35471341-35471341 6:35503564-35503564 FND002 Fundus Dystrophy TULP1 NM_003322.6(TULP1):c.1153G>A (p.Gly385Arg) SNV Likely pathogenic 866359 6:35471585-35471585 6:35503808-35503808 FND002 Fundus Dystrophy TULP1 NM_003322.6(TULP1):c.971A>C (p.Tyr324Ser) SNV Likely pathogenic 865883 6:35473808-35473808 6:35506031-35506031 FND002 Fundus Dystrophy TULP1 NM_003322.6(TULP1):c.821del (p.Lys274fs) deletion Likely pathogenic 865921 6:35476987-35476987 6:35509210-35509210 FND002 Fundus Dystrophy GRM6 NM_000843.4(GRM6):c.1205_1229del (p.Gln402fs) deletion Likely pathogenic 866581 5:178416061-178416085 5:178989060-178989084 FND002 Fundus Dystrophy VCAN NM_004385.5(VCAN):c.1720del (p.Asp574fs) deletion Likely pathogenic 866367 5:82815845-82815845 5:83520026-83520026 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.16436del (p.Asn5479fs) deletion Likely pathogenic 866710 5:90124827-90124827 5:90829010-90829010 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.16940del (p.Val5647fs) deletion Likely pathogenic 866635 5:90136723-90136723 5:90840906-90840906 FND002 Fundus Dystrophy AHI1 NM_001134831.2(AHI1):c.1811C>G (p.Ser604Ter) SNV Likely pathogenic 867053 6:135763821-135763821 6:135442683-135442683 FND002 Fundus Dystrophy COL11A2 NM_080680.3(COL11A2):c.3075del (p.Gly1027fs) deletion Likely pathogenic 866042 6:33139565-33139565 6:33171788-33171788 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.10940del (p.Asn3647fs) deletion Likely pathogenic 866363 5:90041577-90041577 5:90745760-90745760 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.11484_11487del (p.Asn3828fs) deletion Likely pathogenic 866711 5:90050904-90050907 5:90755087-90755090 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.12497C>G (p.Ser4166Ter) SNV Likely pathogenic 866027 5:90072363-90072363 5:90776546-90776546 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.12697dup (p.Ser4233fs) duplication Likely pathogenic 866110 5:90074268-90074269 5:90778451-90778452 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.2277T>A (p.Tyr759Ter) SNV Likely pathogenic 865856 5:89938489-89938489 5:90642672-90642672 FND002 Fundus Dystrophy PDE6A NM_000440.3(PDE6A):c.816T>A (p.Cys272Ter) SNV Likely pathogenic 866821 5:149310633-149310633 5:149931070-149931070 FND002 Fundus Dystrophy CNGA1 NM_001375386.1(CNGA1):c.1073T>C (p.Leu358Pro) SNV Likely pathogenic 866125 4:47939438-47939438 4:47937421-47937421 FND002 Fundus Dystrophy CNGA1 NM_001375386.1(CNGA1):c.1755_1758del (p.Thr586fs) deletion Likely pathogenic 866019 4:47938753-47938756 4:47936736-47936739 FND002 Fundus Dystrophy CNGA1 NM_001375386.1(CNGA1):c.1700del (p.Ser567fs) deletion Likely pathogenic 866470 4:47938811-47938811 4:47936794-47936794 FND002 Fundus Dystrophy CYP4V2 NM_207352.4(CYP4V2):c.792dup (p.Thr265fs) duplication Likely pathogenic 866305 4:187120224-187120225 4:186199070-186199071 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.75_76CA[1] (p.Thr26fs) short repeat Likely pathogenic 866814 4:16077452-16077453 4:16075829-16075830 FND002 Fundus Dystrophy CNGA1 NM_001375386.1(CNGA1):c.117C>A (p.Cys39Ter) SNV Likely pathogenic 866975 4:47954602-47954602 4:47952585-47952585 FND002 Fundus Dystrophy PDE6B NM_001145291.1(PDE6B):c.181G>T (p.Glu61Ter) SNV Likely pathogenic 866759 4:619596-619596 4:625807-625807 FND002 Fundus Dystrophy PDE6B NM_001145291.1(PDE6B):c.315del (p.Glu105fs) deletion Likely pathogenic 866801 4:619730-619730 4:625941-625941 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.560G>T (p.Cys187Phe) SNV Likely pathogenic 866537 3:129251123-129251123 3:129532280-129532280 FND002 Fundus Dystrophy CNGA1 NM_001375386.1(CNGA1):c.1447T>C (p.Cys483Arg) SNV Likely pathogenic 866877 4:47939064-47939064 4:47937047-47937047 FND002 Fundus Dystrophy PDE6B NM_001145292.1(PDE6B):c.-64C>G SNV Likely pathogenic 865778 4:647703-647703 4:653914-653914 FND002 Fundus Dystrophy PDE6B NM_001145291.1(PDE6B):c.1161dup (p.Ile388fs) duplication Likely pathogenic 865775 4:650713-650714 4:656924-656925 FND002 Fundus Dystrophy PDE6B NM_001145291.1(PDE6B):c.1841dup (p.Asn614fs) duplication Likely pathogenic 866127 4:656895-656896 4:663106-663107 FND002 Fundus Dystrophy PDE6B NM_001145291.1(PDE6B):c.1927_1969delinsGG (p.Asn643fs) indel Likely pathogenic 866951 4:657565-657607 4:663776-663818 FND002 Fundus Dystrophy PDE6B NM_001145291.1(PDE6B):c.1935C>A (p.Tyr645Ter) SNV Likely pathogenic 866506 4:657573-657573 4:663784-663784 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.3150dup (p.Leu1051fs) duplication Likely pathogenic 867149 8:55539586-55539587 8:54627026-54627027 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.4327C>T (p.Arg1443Trp) SNV Likely pathogenic 866689 8:55540769-55540769 8:54628209-54628209 FND002 Fundus Dystrophy CNGB3 NM_019098.4(CNGB3):c.1197T>G (p.Tyr399Ter) SNV Likely pathogenic 866824 8:87645103-87645103 8:86632875-86632875 FND002 Fundus Dystrophy KCNV2 NM_133497.4(KCNV2):c.643A>T (p.Lys215Ter) SNV Likely pathogenic 866033 9:2718382-2718382 9:2718382-2718382 FND002 Fundus Dystrophy KCNV2 NM_133497.4(KCNV2):c.721_722delinsTA (p.Pro241Ter) indel Likely pathogenic 865987 9:2718460-2718461 9:2718460-2718461 FND002 Fundus Dystrophy KCNV2 NM_133497.4(KCNV2):c.958C>G (p.Arg320Gly) SNV Likely pathogenic 866459 9:2718697-2718697 9:2718697-2718697 FND002 Fundus Dystrophy KCNV2 NM_133497.4(KCNV2):c.982_1000del (p.Arg328fs) deletion Likely pathogenic 866929 9:2718720-2718738 9:2718720-2718738 FND002 Fundus Dystrophy KCNV2 NM_133497.4(KCNV2):c.381del (p.Thr128fs) deletion Likely pathogenic 866603 9:2718119-2718119 9:2718119-2718119 FND002 Fundus Dystrophy KCNV2 NM_133497.4(KCNV2):c.528_536delinsCA (p.Cys177fs) indel Likely pathogenic 866928 9:2718267-2718275 9:2718267-2718275 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.4957_4984del (p.Lys1653fs) deletion Likely pathogenic 866414 8:55541399-55541426 8:54628839-54628866 FND002 Fundus Dystrophy INPP5E NM_019892.6(INPP5E):c.1133G>A (p.Arg378His) SNV Likely pathogenic 866268 9:139327633-139327633 9:136433181-136433181 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.2219C>A (p.Ser740Ter) SNV Likely pathogenic 867011 8:55538661-55538661 8:54626101-54626101 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.2232T>A (p.Cys744Ter) SNV Likely pathogenic 866707 8:55538674-55538674 8:54626114-54626114 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.2305A>T (p.Lys769Ter) SNV Likely pathogenic 866299 8:55538747-55538747 8:54626187-54626187 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.2360T>A (p.Leu787Ter) SNV Likely pathogenic 866674 8:55538802-55538802 8:54626242-54626242 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.2430C>A (p.Cys810Ter) SNV Likely pathogenic 866489 8:55538872-55538872 8:54626312-54626312 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.2671del (p.Arg891fs) deletion Likely pathogenic 865789 8:55539113-55539113 8:54626553-54626553 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.2756G>A (p.Trp919Ter) SNV Likely pathogenic 865866 8:55539198-55539198 8:54626638-54626638 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.2757G>A (p.Trp919Ter) SNV Likely pathogenic 867221 8:55539199-55539199 8:54626639-54626639 FND002 Fundus Dystrophy RP1L1 NM_178857.6(RP1L1):c.2480C>G (p.Ser827Ter) SNV Likely pathogenic 866989 8:10469128-10469128 8:10611618-10611618 FND002 Fundus Dystrophy RP1L1 NM_178857.6(RP1L1):c.2049_2052CAAG[1] (p.Gln685fs) short repeat Likely pathogenic 866176 8:10469552-10469555 8:10612042-10612045 FND002 Fundus Dystrophy IMPG1 NM_001563.4(IMPG1):c.262C>T (p.Gln88Ter) SNV Likely pathogenic 866596 6:76751649-76751649 6:76041932-76041932 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.8749G>T (p.Glu2917Ter) SNV Likely pathogenic 866321 5:90004651-90004651 5:90708834-90708834 FND002 Fundus Dystrophy RP1L1 NM_178857.6(RP1L1):c.1451del (p.Ser484fs) deletion Likely pathogenic 867066 8:10470157-10470157 8:10612647-10612647 FND002 Fundus Dystrophy RP1L1 NM_178857.6(RP1L1):c.831del (p.Arg277fs) deletion Likely pathogenic 866684 8:10470777-10470777 8:10613267-10613267 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.1982T>A (p.Leu661Ter) SNV Likely pathogenic 865834 6:66005797-66005797 6:65295904-65295904 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.1871C>A (p.Ser624Ter) SNV Likely pathogenic 866861 6:66005908-66005908 6:65296015-65296015 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.1784_1787del (p.Ser595fs) deletion Likely pathogenic 867151 6:66005992-66005995 6:65296099-65296102 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.1222del (p.Ala408fs) deletion Likely pathogenic 866578 6:66094356-66094356 6:65384463-65384463 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.1207A>T (p.Lys403Ter) SNV Likely pathogenic 865999 6:66094371-66094371 6:65384478-65384478 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.1068C>A (p.Cys356Ter) SNV Likely pathogenic 866204 6:66112487-66112487 6:65402594-65402594 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.967G>T (p.Gly323Ter) SNV Likely pathogenic 865954 6:66115156-66115156 6:65405263-65405263 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.803del (p.Gly268fs) deletion Likely pathogenic 865955 6:66200546-66200546 6:65490653-65490653 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.786dup (p.His263fs) duplication Likely pathogenic 865953 6:66200562-66200563 6:65490669-65490670 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.7736_7742del (p.Thr2579fs) deletion Likely pathogenic 866265 6:64488055-64488061 6:63778162-63778168 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.7392dup (p.Thr2465fs) duplication Likely pathogenic 867095 6:64516101-64516102 6:63806208-63806209 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.4993_4994delinsA (p.Cys1665fs) indel Likely pathogenic 866090 6:65300766-65300767 6:64590873-64590874 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.4955C>G (p.Ser1652Ter) SNV Likely pathogenic 867110 6:65300805-65300805 6:64590912-64590912 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.4518del (p.Ile1507fs) deletion Likely pathogenic 866112 6:65301242-65301242 6:64591349-64591349 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.5847C>A (p.Tyr1949Ter) SNV Likely pathogenic 866637 6:65146147-65146147 6:64436254-64436254 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.3579_3580AC[1] (p.His1194fs) short repeat Likely pathogenic 866439 6:65327413-65327414 6:64617520-64617521 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.3549T>G (p.Tyr1183Ter) SNV Likely pathogenic 866440 6:65336033-65336033 6:64626140-64626140 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.2964C>G (p.Tyr988Ter) SNV Likely pathogenic 866396 6:65596618-65596618 6:64886725-64886725 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.2652dup (p.Lys885Ter) duplication Likely pathogenic 866441 6:65612382-65612383 6:64902489-64902490 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.220del (p.Val74fs) deletion Likely pathogenic 866810 6:66205084-66205084 6:65495191-65495191 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.216del (p.Ala73fs) deletion Likely pathogenic 867116 6:66205088-66205088 6:65495195-65495195 FND002 Fundus Dystrophy IMPG1 NM_001563.4(IMPG1):c.713T>C (p.Leu238Pro) SNV Likely pathogenic 865770 6:76728529-76728529 6:76018812-76018812 FND002 Fundus Dystrophy LCA5 NM_001122769.3(LCA5):c.1794del (p.Glu599fs) deletion Likely pathogenic 865956 6:80197021-80197021 6:79487304-79487304 FND002 Fundus Dystrophy LCA5 NM_001122769.3(LCA5):c.1460_1461del (p.Pro487fs) deletion Likely pathogenic 866941 6:80197354-80197355 6:79487637-79487638 FND002 Fundus Dystrophy LCA5 NM_001122769.3(LCA5):c.661T>G (p.Leu221Val) SNV Likely pathogenic 866867 6:80222988-80222988 6:79513271-79513271 FND002 Fundus Dystrophy TSPAN12 NM_012338.4(TSPAN12):c.460del (p.Gln154fs) deletion Likely pathogenic 865826 7:120450525-120450525 7:120810471-120810471 FND002 Fundus Dystrophy KLHL7 NM_001031710.3(KLHL7):c.472T>C (p.Cys158Arg) SNV Likely pathogenic 867023 7:23180417-23180417 7:23140798-23140798 FND002 Fundus Dystrophy IMPDH1 NM_000883.4(IMPDH1):c.809_810delinsGT (p.Leu270Arg) indel Likely pathogenic 866611 7:128040213-128040214 7:128400159-128400160 FND002 Fundus Dystrophy RP1L1 NM_178857.6(RP1L1):c.3595T>G (p.Ser1199Ala) SNV Likely pathogenic 866263 8:10468013-10468013 8:10610503-10610503 FND002 Fundus Dystrophy RDH12 NM_152443.3(RDH12):c.715C>T (p.Arg239Trp) SNV Likely pathogenic 865997 14:68195964-68195964 14:67729247-67729247 FND002 Fundus Dystrophy TTLL5 NM_015072.5(TTLL5):c.3508C>T (p.Arg1170Ter) SNV Likely pathogenic 866515 14:76330191-76330191 14:75863848-75863848 FND002 Fundus Dystrophy RDH12 NM_152443.3(RDH12):c.601T>C (p.Cys201Arg) SNV Likely pathogenic 866060 14:68193850-68193850 14:67727133-67727133 FND002 Fundus Dystrophy RDH12 NM_152443.3(RDH12):c.671C>T (p.Thr224Ile) SNV Likely pathogenic 867045 14:68195920-68195920 14:67729203-67729203 FND002 Fundus Dystrophy RDH12 NM_152443.3(RDH12):c.697G>C (p.Val233Leu) SNV Likely pathogenic 866751 14:68195946-68195946 14:67729229-67729229 FND002 Fundus Dystrophy RDH12 NM_152443.3(RDH12):c.505C>T (p.Arg169Trp) SNV Likely pathogenic 866945 14:68193754-68193754 14:67727037-67727037 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.1721C>G (p.Ser574Ter) SNV Likely pathogenic 866177 8:55538163-55538163 8:54625603-54625603 FND002 Fundus Dystrophy RDH12 NM_152443.3(RDH12):c.284G>A (p.Arg95Gln) SNV Likely pathogenic 867107 14:68191912-68191912 14:67725195-67725195 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.3220G>T (p.Glu1074Ter) SNV Likely pathogenic 866230 12:88487636-88487636 12:88093859-88093859 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.1347dup (p.Asp450fs) duplication Likely pathogenic 866808 12:88514785-88514786 12:88121008-88121009 FND002 Fundus Dystrophy POC1B NM_172240.3(POC1B):c.238C>T (p.Arg80Ter) SNV Likely pathogenic 866170 12:89890982-89890982 12:89497205-89497205 FND002 Fundus Dystrophy RPGRIP1 NM_020366.3(RPGRIP1):c.1773dup (p.Asp592fs) duplication Likely pathogenic 866333 14:21792784-21792785 14:21324625-21324626 FND002 Fundus Dystrophy RPGRIP1 NM_020366.3(RPGRIP1):c.2230G>T (p.Glu744Ter) SNV Likely pathogenic 866000 14:21793405-21793405 14:21325246-21325246 FND002 Fundus Dystrophy RPGRIP1 NM_020366.3(RPGRIP1):c.2406G>A (p.Trp802Ter) SNV Likely pathogenic 866598 14:21794028-21794028 14:21325869-21325869 FND002 Fundus Dystrophy RPGRIP1 NM_020366.3(RPGRIP1):c.2441del (p.Arg814fs) deletion Likely pathogenic 865870 14:21794063-21794063 14:21325904-21325904 FND002 Fundus Dystrophy NRL NM_001354768.3(NRL):c.516C>A (p.Tyr172Ter) SNV Likely pathogenic 866063 14:24550643-24550643 14:24081434-24081434 FND002 Fundus Dystrophy BBS10 NM_024685.4(BBS10):c.206T>A (p.Val69Glu) SNV Likely pathogenic 866292 12:76741559-76741559 12:76347779-76347779 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.6892C>T (p.Gln2298Ter) SNV Likely pathogenic 866450 12:88449421-88449421 12:88055644-88055644 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.5254C>T (p.Arg1752Trp) SNV Likely pathogenic 866339 12:88472979-88472979 12:88079202-88079202 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.4490C>A (p.Ser1497Ter) SNV Likely pathogenic 866451 12:88478577-88478577 12:88084800-88084800 FND002 Fundus Dystrophy LRP5 NM_002335.4(LRP5):c.4183_4184CT[3] (p.Leu1397fs) short repeat Likely pathogenic 866932 11:68205985-68205988 11:68438517-68438520 FND002 Fundus Dystrophy LRP5 NM_002335.4(LRP5):c.4452del (p.Ser1484fs) deletion Likely pathogenic 865980 11:68207348-68207348 11:68439880-68439880 FND002 Fundus Dystrophy C1QTNF5 NM_001278431.2(C1QTNF5):c.489C>A (p.Ser163Arg) SNV Likely pathogenic 865771 11:119210284-119210284 11:119339574-119339574 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.1052C>A (p.Ser351Ter) SNV Likely pathogenic 865781 11:76870541-76870541 11:77159495-77159495 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.2302A>T (p.Lys768Ter) SNV Likely pathogenic 867005 11:76890110-76890110 11:77179064-77179064 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.1522T>C (p.Ser508Pro) SNV Likely pathogenic 865814 11:76873344-76873344 11:77162298-77162298 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro) SNV Likely pathogenic 866837 11:76901853-76901853 11:77190808-77190808 FND002 Fundus Dystrophy BBS1 NM_024649.5(BBS1):c.1638C>A (p.Tyr546Ter) SNV Likely pathogenic 866037 11:66299156-66299156 11:66531685-66531685 FND002 Fundus Dystrophy BBS1 NM_024649.5(BBS1):c.1682C>G (p.Ser561Ter) SNV Likely pathogenic 866100 11:66299200-66299200 11:66531729-66531729 FND002 Fundus Dystrophy CABP4 NC_000011.10:g.67455488del deletion Likely pathogenic 866054 11:67222955-67222955 11:67455484-67455484 FND002 Fundus Dystrophy LRP5 NM_002335.4(LRP5):c.209_210delinsAA (p.Phe70Ter) indel Likely pathogenic 865885 11:68115432-68115433 11:68347964-68347965 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.1550C>G (p.Ser517Ter) SNV Likely pathogenic 866481 11:61730176-61730176 11:61962704-61962704 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.1612G>T (p.Glu538Ter) SNV Likely pathogenic 867173 11:61730238-61730238 11:61962766-61962766 FND002 Fundus Dystrophy ROM1 NM_000327.4(ROM1):c.712del (p.Leu238fs) deletion Likely pathogenic 866285 11:62381847-62381847 11:62614375-62614375 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.169G>T (p.Glu57Ter) SNV Likely pathogenic 865876 11:61722595-61722595 11:61955123-61955123 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.286C>G (p.Gln96Glu) SNV Likely pathogenic 866188 11:61723228-61723228 11:61955756-61955756 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.449G>C (p.Arg150Pro) SNV Likely pathogenic 866479 11:61723391-61723391 11:61955919-61955919 FND002 Fundus Dystrophy KIF11 NM_004523.4(KIF11):c.2729dup (p.Asn910fs) duplication Likely pathogenic 866566 10:94408148-94408149 10:92648391-92648392 FND002 Fundus Dystrophy PDE6C NM_006204.4(PDE6C):c.251T>C (p.Leu84Pro) SNV Likely pathogenic 866137 10:95372733-95372733 10:93612976-93612976 FND002 Fundus Dystrophy PDE6C NM_006204.4(PDE6C):c.1083_1086dup (p.Asn363fs) duplication Likely pathogenic 866407 10:95389025-95389026 10:93629268-93629269 FND002 Fundus Dystrophy PDE6C NM_006204.4(PDE6C):c.1250A>G (p.His417Arg) SNV Likely pathogenic 866136 10:95394645-95394645 10:93634888-93634888 FND002 Fundus Dystrophy PDE6C NM_006204.4(PDE6C):c.2304_2305del (p.Arg769_Asp770insTer) deletion Likely pathogenic 866406 10:95422335-95422336 10:93662578-93662579 FND002 Fundus Dystrophy PDE6C NM_006204.4(PDE6C):c.2425del (p.Arg809fs) deletion Likely pathogenic 866809 10:95422842-95422842 10:93663085-93663085 FND002 Fundus Dystrophy CEP164 NM_014956.5(CEP164):c.470del (p.Pro157fs) deletion Likely pathogenic 866436 11:117232624-117232624 11:117361908-117361908 FND002 Fundus Dystrophy MFRP NM_031433.4(MFRP):c.855T>A (p.Cys285Ter) SNV Likely pathogenic 866632 11:119215385-119215385 11:119344675-119344675 FND002 Fundus Dystrophy USH1C NM_153676.4(USH1C):c.560del (p.Gln187fs) deletion Likely pathogenic 865761 11:17548319-17548319 11:17526772-17526772 FND002 Fundus Dystrophy USH1C NM_153676.4(USH1C):c.491_492del (p.Val164fs) deletion Likely pathogenic 866066 11:17548774-17548775 11:17527227-17527228 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.5C>G (p.Thr2Ser) SNV Likely pathogenic 866344 11:61719283-61719283 11:61951811-61951811 FND002 Fundus Dystrophy CDH23 NM_022124.6(CDH23):c.6435_6463del (p.Ala2146fs) deletion Likely pathogenic 865850 10:73553119-73553147 10:71793362-71793390 FND002 Fundus Dystrophy CDH23 NM_022124.6(CDH23):c.6838_6841del (p.Thr2280fs) deletion Likely pathogenic 865851 10:73558116-73558119 10:71798359-71798362 FND002 Fundus Dystrophy CDH23 NM_022124.6(CDH23):c.849del (p.Phe284fs) deletion Likely pathogenic 866055 10:73375277-73375277 10:71615520-71615520 FND002 Fundus Dystrophy CDH23 NM_022124.6(CDH23):c.2132_2139del (p.Ile710_Tyr711insTer) deletion Likely pathogenic 866850 10:73450297-73450304 10:71690540-71690547 FND002 Fundus Dystrophy CDH23 NM_022124.6(CDH23):c.3417C>A (p.Tyr1139Ter) SNV Likely pathogenic 866891 10:73483849-73483849 10:71724092-71724092 FND002 Fundus Dystrophy CDHR1 NM_033100.4(CDHR1):c.790del (p.Glu264fs) deletion Likely pathogenic 866189 10:85964288-85964288 10:84204532-84204532 FND002 Fundus Dystrophy CDHR1 NM_033100.4(CDHR1):c.954_958del (p.His319fs) deletion Likely pathogenic 866838 10:85965674-85965678 10:84205918-84205922 FND002 Fundus Dystrophy CDHR1 NM_033100.4(CDHR1):c.1468delinsCGC (p.Ser490fs) indel Likely pathogenic 866762 10:85970904-85970904 10:84211148-84211148 FND002 Fundus Dystrophy KIF11 NM_004523.4(KIF11):c.1134T>G (p.Tyr378Ter) SNV Likely pathogenic 866368 10:94381147-94381147 10:92621390-92621390 FND002 Fundus Dystrophy PHYH NM_006214.4(PHYH):c.517C>A (p.Pro173Thr) SNV Likely pathogenic 866619 10:13330521-13330521 10:13288521-13288521 FND002 Fundus Dystrophy RBP3 NM_002900.3(RBP3):c.2523C>G (p.Tyr841Ter) SNV Likely pathogenic 865981 10:48388355-48388355 10:47351007-47351007 FND002 Fundus Dystrophy TOPORS NM_005802.5(TOPORS):c.2587dup (p.Arg863fs) duplication Likely pathogenic 865844 9:32541935-32541936 9:32541937-32541938 FND002 Fundus Dystrophy CEP78 NM_001330691.3(CEP78):c.76C>T (p.Gln26Ter) SNV Likely pathogenic 867122 9:80851342-80851342 9:78236426-78236426 FND002 Fundus Dystrophy CEP78 NM_001330691.3(CEP78):c.211del (p.Val71fs) deletion Likely pathogenic 867155 9:80851476-80851476 9:78236560-78236560 FND002 Fundus Dystrophy CEP78 NM_001330691.3(CEP78):c.323T>G (p.Leu108Trp) SNV Likely pathogenic 866175 9:80855008-80855008 9:78240092-78240092 FND002 Fundus Dystrophy CEP78 NM_001330691.3(CEP78):c.1417G>T (p.Glu473Ter) SNV Likely pathogenic 866101 9:80877859-80877859 9:78262943-78262943 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1691dup (p.Gln565fs) duplication Likely pathogenic 866160 X:38147175-38147176 X:38287922-38287923 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.382_383del (p.Asn128fs) deletion Likely pathogenic 866998 X:38178168-38178169 X:38318915-38318916 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1170del (p.Leu391fs) deletion Likely pathogenic 866853 X:38158284-38158284 X:38299031-38299031 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1126G>T (p.Glu376Ter) SNV Likely pathogenic 867065 X:38158328-38158328 X:38299075-38299075 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1677T>A (p.Cys559Ter) SNV Likely pathogenic 866697 X:38147190-38147190 X:38287937-38287937 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1663G>T (p.Glu555Ter) SNV Likely pathogenic 865903 X:38147204-38147204 X:38287951-38287951 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1538del (p.Lys513fs) deletion Likely pathogenic 866985 X:38150246-38150246 X:38290993-38290993 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1491del (p.Asp498fs) deletion Likely pathogenic 867024 X:38150661-38150661 X:38291408-38291408 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.327dup (p.Ala110fs) duplication Likely pathogenic 866683 X:38178223-38178224 X:38318970-38318971 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.193G>C (p.Gly65Arg) SNV Likely pathogenic 865927 X:38182160-38182160 X:38322907-38322907 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.168_169del (p.Tyr57fs) deletion Likely pathogenic 867108 X:38182184-38182185 X:38322931-38322932 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.128dup (p.Asp44fs) duplication Likely pathogenic 867136 X:38182677-38182678 X:38323424-38323425 FND002 Fundus Dystrophy NYX NM_001378477.1(NYX):c.618_761del (p.Ser210_Arg257del) deletion Likely pathogenic 867172 X:41333316-41333459 X:41474063-41474206 FND002 Fundus Dystrophy NYX NM_001378477.1(NYX):c.826_848del (p.Asp276fs) deletion Likely pathogenic 866203 X:41333529-41333551 X:41474276-41474298 FND002 Fundus Dystrophy RP2 NM_006915.3(RP2):c.37A>T (p.Lys13Ter) SNV Likely pathogenic 866512 X:46696572-46696572 X:46837137-46837137 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.14791+5G>T SNV Likely pathogenic 866233 1:215820859-215820859 1:215647517-215647517 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.3878+2dup duplication Likely pathogenic 865979 1:197407806-197407807 1:197438676-197438677 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.2676+1G>T SNV Likely pathogenic 867210 1:197397132-197397132 1:197428002-197428002 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.653-1G>T SNV Likely pathogenic 866627 1:197313410-197313410 1:197344280-197344280 FND002 Fundus Dystrophy CRB1 NC_000001.11:g.197268482del deletion Likely pathogenic 866715 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3329-1G>A SNV Likely pathogenic 865774 1:94506959-94506959 1:94041403-94041403 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.823G>C (p.Gly275Arg) SNV Likely pathogenic 866638 X:38163999-38163999 X:38304746-38304746 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.10183-2A>G SNV Likely pathogenic 866770 1:215960218-215960218 1:215786876-215786876 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.5573-834A>G SNV Likely pathogenic 867167 1:216247476-216247476 1:216074134-216074134 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.5857+1G>C SNV Likely pathogenic 866716 1:216246230-216246230 1:216072888-216072888 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5460+1G>T SNV Likely pathogenic 867161 1:94480098-94480098 1:94014542-94014542 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5313-2A>G SNV Likely pathogenic 866390 1:94480248-94480248 1:94014692-94014692 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4667+1G>A SNV Likely pathogenic 867142 1:94488941-94488941 1:94023385-94023385 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4634+1del deletion Likely pathogenic 866546 1:94490509-94490509 1:94024953-94024953 FND002 Fundus Dystrophy NPHP4 NM_015102.5(NPHP4):c.3644+1G>A SNV Likely pathogenic 867163 1:5926432-5926432 1:5866372-5866372 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6817-2A>G SNV Likely pathogenic 866510 1:94458800-94458800 1:93993244-93993244 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.1644+2T>A SNV Likely pathogenic 866353 1:216495223-216495223 1:216321881-216321881 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.1644+1G>A SNV Likely pathogenic 866766 1:216495224-216495224 1:216321882-216321882 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.1550+2T>C SNV Likely pathogenic 866575 1:216496814-216496814 1:216323472-216323472 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+233del deletion Likely pathogenic 865810 X:38146114-38146114 X:38286861-38286861 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+220G>T SNV Likely pathogenic 865819 X:38146127-38146127 X:38286874-38286874 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+201G>A SNV Likely pathogenic 866085 X:38146146-38146146 X:38286893-38286893 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+154G>T SNV Likely pathogenic 866277 X:38146193-38146193 X:38286940-38286940 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+136_1905+137del deletion Likely pathogenic 865836 X:38146210-38146211 X:38286957-38286958 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+127_1905+129delinsAA indel Likely pathogenic 866700 X:38146218-38146220 X:38286965-38286967 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1840_1843dup (p.Val615fs) duplication Likely pathogenic 865947 X:38146408-38146409 X:38287155-38287156 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+346A>T SNV Likely pathogenic 865796 X:38146001-38146001 X:38286748-38286748 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+329_1905+332del deletion Likely pathogenic 866530 X:38146015-38146018 X:38286762-38286765 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+213_1905+285dup duplication Likely pathogenic 866527 X:38146061-38146062 X:38286808-38286809 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+263_1905+266del short repeat Likely pathogenic 866053 X:38146081-38146084 X:38286828-38286831 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+253C>T SNV Likely pathogenic 866786 X:38146094-38146094 X:38286841-38286841 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+388_1905+392del deletion Likely pathogenic 866191 X:38145955-38145959 X:38286702-38286706 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+504del deletion Likely pathogenic 865862 X:38145843-38145843 X:38286590-38286590 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+682del deletion Likely pathogenic 866843 X:38145665-38145665 X:38286412-38286412 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+583G>T SNV Likely pathogenic 865986 X:38145764-38145764 X:38286511-38286511 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+574G>T SNV Likely pathogenic 866964 X:38145773-38145773 X:38286520-38286520 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+514G>T SNV Likely pathogenic 867160 X:38145833-38145833 X:38286580-38286580 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+621_1905+622del deletion Likely pathogenic 867130 X:38145725-38145726 X:38286472-38286473 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+596_1905+617del deletion Likely pathogenic 865755 X:38145730-38145751 X:38286477-38286498 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+703G>T SNV Likely pathogenic 866061 X:38145644-38145644 X:38286391-38286391 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+856dup duplication Likely pathogenic 866081 X:38145487-38145488 X:38286234-38286235 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+993_1905+994del deletion Likely pathogenic 866254 X:38145353-38145354 X:38286100-38286101 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+934del deletion Likely pathogenic 867018 X:38145413-38145413 X:38286160-38286160 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+1032_1905+1048del deletion Likely pathogenic 865969 X:38145299-38145315 X:38286046-38286062 FND002 Fundus Dystrophy CFAP410 NM_004928.3(CFAP410):c.493del (p.Ser165fs) deletion Likely pathogenic 866541 21:45751778-45751778 21:44331895-44331895 FND002 Fundus Dystrophy CFAP410 NM_004928.3(CFAP410):c.137C>T (p.Thr46Met) SNV Likely pathogenic 867177 21:45755647-45755647 21:44335764-44335764 FND002 Fundus Dystrophy COL18A1 NM_030582.4(COL18A1):c.1228dup (p.Gln410fs) duplication Likely pathogenic 866461 21:46893840-46893841 21:45473926-45473927 FND002 Fundus Dystrophy MKKS NM_170784.3(MKKS):c.1268_1272delinsC (p.His423fs) indel Likely pathogenic 866207 20:10388264-10388268 20:10407616-10407620 FND002 Fundus Dystrophy PRPS1 NM_002764.4(PRPS1):c.827C>T (p.Pro276Leu) SNV Likely pathogenic 866872 X:106890958-106890958 X:107647728-107647728 FND002 Fundus Dystrophy RS1 NM_000330.4(RS1):c.375_379del (p.Asp126fs) deletion Likely pathogenic 866069 X:18662693-18662697 X:18644573-18644577 FND002 Fundus Dystrophy RS1 NM_000330.4(RS1):c.266dup (p.Tyr89Ter) duplication Likely pathogenic 866773 X:18665370-18665371 X:18647250-18647251 FND002 Fundus Dystrophy RS1 NM_000330.4(RS1):c.176G>A (p.Cys59Tyr) SNV Likely pathogenic 866404 X:18674781-18674781 X:18656661-18656661 FND002 Fundus Dystrophy RS1 NM_000330.4(RS1):c.133G>T (p.Gly45Ter) SNV Likely pathogenic 866630 X:18674824-18674824 X:18656704-18656704 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+1395_1905+1396del deletion Likely pathogenic 867083 X:38144951-38144952 X:38285698-38285699 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+1350del deletion Likely pathogenic 865831 X:38144997-38144997 X:38285744-38285744 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+1285G>T SNV Likely pathogenic 866726 X:38145062-38145062 X:38285809-38285809 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+1204G>T SNV Likely pathogenic 866729 X:38145143-38145143 X:38285890-38285890 FND002 Fundus Dystrophy JAG1 NM_000214.3(JAG1):c.73_74del (p.Arg25fs) deletion Likely pathogenic 865944 20:10654105-10654106 20:10673457-10673458 FND002 Fundus Dystrophy KIZ NM_018474.6(KIZ):c.583C>T (p.Arg195Ter) SNV Likely pathogenic 867191 20:21142689-21142689 20:21162048-21162048 FND002 Fundus Dystrophy KIZ NM_018474.6(KIZ):c.1395_1398dup (p.Gln467fs) duplication Likely pathogenic 866866 20:21186167-21186168 20:21205529-21205530 FND002 Fundus Dystrophy ABHD12 NM_001042472.3(ABHD12):c.1036dup (p.Ser346fs) duplication Likely pathogenic 866182 20:25282975-25282976 20:25302339-25302340 FND002 Fundus Dystrophy ABHD12 NM_001042472.3(ABHD12):c.755C>T (p.Ala252Val) SNV Likely pathogenic 866325 20:25289125-25289125 20:25308489-25308489 FND002 Fundus Dystrophy ABHD12 NM_001042472.3(ABHD12):c.400G>T (p.Glu134Ter) SNV Likely pathogenic 866328 20:25303983-25303983 20:25323347-25323347 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.1406dup (p.Lys470fs) duplication Likely pathogenic 866452 19:54634768-54634769 19:54131337-54131338 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.1107_1113dup (p.Arg372fs) duplication Likely pathogenic 866083 19:54631711-54631712 19:54128336-54128337 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.854del (p.Pro285fs) deletion Likely pathogenic 866593 19:54628033-54628033 19:54124654-54124654 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.1040del (p.Leu347fs) deletion Likely pathogenic 866533 19:54631542-54631542 19:54128167-54128167 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.912_914dup (p.Val305dup) duplication Likely pathogenic 866151 19:54629958-54629959 19:54126583-54126584 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.682_684GCC[1] (p.Ala229del) short repeat Likely pathogenic 866410 19:54627282-54627284 19:54123903-54123905 FND002 Fundus Dystrophy NR2E3 NM_014249.4(NR2E3):c.289C>T (p.Arg97Cys) SNV Likely pathogenic 867090 15:72104149-72104149 15:71811809-71811809 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.605dup (p.His202fs) duplication Likely pathogenic 866779 19:54627204-54627205 19:54123825-54123826 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.748del (p.Met250fs) deletion Likely pathogenic 865943 19:54627928-54627928 19:54124549-54124549 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.808dup (p.His270fs) duplication Likely pathogenic 865752 19:54627984-54627985 19:54124605-54124606 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.358_361del (p.Lys120fs) deletion Likely pathogenic 866099 19:54625910-54625913 19:54122531-54122534 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.73_166dup (p.Asp56fs) duplication Likely pathogenic 866568 19:54621720-54621721 19:54118340-54118341 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.183dup (p.Glu62Ter) duplication Likely pathogenic 867125 19:54621957-54621958 19:54118577-54118578 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.195del (p.Met65fs) deletion Likely pathogenic 866121 19:54621970-54621970 19:54118590-54118590 FND002 Fundus Dystrophy CRX NM_000554.6(CRX):c.431_434del (p.Pro144fs) deletion Likely pathogenic 866806 19:48342754-48342757 19:47839497-47839500 FND002 Fundus Dystrophy CRX NM_000554.6(CRX):c.437_449del (p.Leu146fs) deletion Likely pathogenic 866158 19:48342755-48342767 19:47839498-47839510 FND002 Fundus Dystrophy CRX NM_000554.6(CRX):c.586del (p.Ala196fs) deletion Likely pathogenic 867219 19:48342910-48342910 19:47839653-47839653 FND002 Fundus Dystrophy CRX NM_000554.6(CRX):c.621_623delinsTT (p.Tyr208fs) indel Likely pathogenic 866251 19:48342945-48342947 19:47839688-47839690 FND002 Fundus Dystrophy GUCY2D NM_000180.4(GUCY2D):c.2707G>T (p.Asp903Tyr) SNV Likely pathogenic 865875 17:7918307-7918307 17:8014989-8014989 FND002 Fundus Dystrophy PRPF8 NM_006445.4(PRPF8):c.6334_6336AAG[1] (p.Lys2113del) short repeat Likely pathogenic 866049 17:1556866-1556868 17:1653572-1653574 FND002 Fundus Dystrophy GUCY2D NM_000180.4(GUCY2D):c.2492T>C (p.Leu831Pro) SNV Likely pathogenic 866409 17:7917998-7917998 17:8014680-8014680 FND002 Fundus Dystrophy GUCY2D NM_000180.4(GUCY2D):c.2182G>A (p.Asp728Asn) SNV Likely pathogenic 866419 17:7916489-7916489 17:8013171-8013171 FND002 Fundus Dystrophy GUCY2D NM_000180.4(GUCY2D):c.2926C>T (p.Arg976Cys) SNV Likely pathogenic 866699 17:7918802-7918802 17:8015484-8015484 FND002 Fundus Dystrophy PRPF8 NM_006445.4(PRPF8):c.6449A>G (p.Gln2150Arg) SNV Likely pathogenic 867208 17:1555003-1555003 17:1651709-1651709 FND002 Fundus Dystrophy CNGB1 NM_001297.5(CNGB1):c.3131_3149del (p.Ala1044fs) deletion Likely pathogenic 866991 16:57931394-57931412 16:57897490-57897508 FND002 Fundus Dystrophy CNGB1 NM_001297.5(CNGB1):c.2088C>G (p.Tyr696Ter) SNV Likely pathogenic 866074 16:57951250-57951250 16:57917346-57917346 FND002 Fundus Dystrophy CNGB1 NM_001297.5(CNGB1):c.2034G>A (p.Trp678Ter) SNV Likely pathogenic 866901 16:57951304-57951304 16:57917400-57917400 FND002 Fundus Dystrophy CNGB1 NM_001297.5(CNGB1):c.1431C>A (p.Cys477Ter) SNV Likely pathogenic 866047 16:57965724-57965724 16:57931820-57931820 FND002 Fundus Dystrophy CNGB1 NM_001297.5(CNGB1):c.11G>A (p.Trp4Ter) SNV Likely pathogenic 866772 16:58001180-58001180 16:57967276-57967276 FND002 Fundus Dystrophy PRPF8 NM_006445.4(PRPF8):c.5792C>T (p.Thr1931Met) SNV Likely pathogenic 867014 17:1559687-1559687 17:1656393-1656393 FND002 Fundus Dystrophy GPR179 NM_001004334.4(GPR179):c.4699_4700del (p.Ser1567fs) deletion Likely pathogenic 866143 17:36484752-36484753 17:38328869-38328870 FND002 Fundus Dystrophy AIPL1 NM_014336.5(AIPL1):c.190G>A (p.Gly64Arg) SNV Likely pathogenic 867104 17:6337325-6337325 17:6434005-6434005 FND002 Fundus Dystrophy RLBP1 NM_000326.5(RLBP1):c.190C>T (p.Arg64Ter) SNV Likely pathogenic 865948 15:89760507-89760507 15:89217276-89217276 FND002 Fundus Dystrophy TTLL5 NM_015072.5(TTLL5):c.1408C>T (p.Arg470Ter) SNV Likely pathogenic 867129 14:76211845-76211845 14:75745502-75745502 FND002 Fundus Dystrophy TTLL5 NM_015072.5(TTLL5):c.1654C>T (p.Arg552Ter) SNV Likely pathogenic 867153 14:76231061-76231061 14:75764718-75764718 FND002 Fundus Dystrophy NR2E3 NM_014249.4(NR2E3):c.1199T>A (p.Met400Lys) SNV Likely pathogenic 867180 15:72109991-72109991 15:71817650-71817650 FND002 Fundus Dystrophy BBS4 NM_033028.5(BBS4):c.1072_1073del (p.Lys358fs) deletion Likely pathogenic 866549 15:73027489-73027490 15:72735148-72735149 FND002 Fundus Dystrophy TRPM1 NM_001252024.2(TRPM1):c.580G>T (p.Gly194Cys) SNV Likely pathogenic 866572 15:31359304-31359304 15:31067101-31067101 FND002 Fundus Dystrophy TRPM1 NM_001252024.2(TRPM1):c.415_422delinsC (p.Lys139fs) indel Likely pathogenic 866798 15:31360153-31360160 15:31067950-31067957 FND002 Fundus Dystrophy SLC24A1 NM_004727.3(SLC24A1):c.481C>T (p.Gln161Ter) SNV Likely pathogenic 865863 15:65916899-65916899 15:65624561-65624561 FND002 Fundus Dystrophy SLC24A1 NM_004727.3(SLC24A1):c.680del (p.Ala227fs) deletion Likely pathogenic 865860 15:65917098-65917098 15:65624760-65624760 FND002 Fundus Dystrophy SLC24A1 NM_004727.3(SLC24A1):c.1132_1133del (p.Ser378fs) deletion Likely pathogenic 866411 15:65917549-65917550 15:65625211-65625212 FND002 Fundus Dystrophy IFT140 NM_014714.4(IFT140):c.2896G>A (p.Glu966Lys) SNV Likely pathogenic 867101 16:1574886-1574886 16:1524885-1524885 FND002 Fundus Dystrophy IFT140 NM_014714.4(IFT140):c.2655del (p.Trp885fs) deletion Likely pathogenic 865925 16:1576001-1576001 16:1526000-1526000 FND002 Fundus Dystrophy IFT140 NM_014714.4(IFT140):c.1862delinsAGA (p.Arg621fs) indel Likely pathogenic 866705 16:1616201-1616201 16:1566200-1566200 FND002 Fundus Dystrophy IFT140 NM_014714.4(IFT140):c.1390G>T (p.Val464Leu) SNV Likely pathogenic 866936 16:1633357-1633357 16:1583356-1583356 FND002 Fundus Dystrophy IFT140 NM_014714.4(IFT140):c.1250_1271dup (p.Ser425fs) duplication Likely pathogenic 867198 16:1634305-1634306 16:1584304-1584305 FND002 Fundus Dystrophy IFT140 NM_014714.4(IFT140):c.1252G>C (p.Ala418Pro) SNV Likely pathogenic 866335 16:1634325-1634325 16:1584324-1584324 FND002 Fundus Dystrophy IFT140 NM_014714.4(IFT140):c.409C>T (p.Arg137Ter) SNV Likely pathogenic 867028 16:1642550-1642550 16:1592549-1592549 FND002 Fundus Dystrophy IFT140 NM_014714.4(IFT140):c.215_216CG[1] (p.Arg73fs) short repeat Likely pathogenic 865848 16:1652522-1652523 16:1602521-1602522 FND002 Fundus Dystrophy CLN3 NM_000086.2(CLN3):c.751C>T (p.Gln251Ter) SNV Likely pathogenic 866297 16:28495366-28495366 16:28484045-28484045 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.9907-1G>A SNV Likely pathogenic 867137 5:90020902-90020902 5:90725085-90725085 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.2490-2A>G SNV Likely pathogenic 867032 4:15981529-15981529 4:15979906-15979906 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.2131-1G>A SNV Likely pathogenic 866816 4:15987661-15987661 4:15986038-15986038 FND002 Fundus Dystrophy CDH23 NM_022124.6(CDH23):c.9198+2T>A SNV Likely pathogenic 866890 10:73571194-73571194 10:71811437-71811437 FND002 Fundus Dystrophy CDHR1 NM_033100.4(CDHR1):c.55+1G>A SNV Likely pathogenic 866140 10:85954572-85954572 10:84194816-84194816 FND002 Fundus Dystrophy CEP78 NM_001330691.3(CEP78):c.254-1G>T SNV Likely pathogenic 866173 9:80854938-80854938 9:78240022-78240022 FND002 Fundus Dystrophy OAT NM_000274.4(OAT):c.1014+1G>A SNV Likely pathogenic 866435 10:126090294-126090294 10:124401725-124401725 FND002 Fundus Dystrophy PCDH15 NM_033056.4(PCDH15):c.3501+1G>A SNV Likely pathogenic 866324 10:55663002-55663002 10:53903242-53903242 FND002 Fundus Dystrophy CDH23 NM_022124.6(CDH23):c.336+1G>T SNV Likely pathogenic 867202 10:73270759-73270759 10:71511002-71511002 FND002 Fundus Dystrophy CDH23 NM_022124.6(CDH23):c.2060-1G>A SNV Likely pathogenic 867203 10:73450224-73450224 10:71690467-71690467 FND002 Fundus Dystrophy CDH23 NM_022124.6(CDH23):c.3369+1G>A SNV Likely pathogenic 865909 10:73472571-73472571 10:71712814-71712814 FND002 Fundus Dystrophy CDH23 NM_022124.6(CDH23):c.5187+1G>A SNV Likely pathogenic 866906 10:73538066-73538066 10:71778309-71778309 FND002 Fundus Dystrophy CDH23 NM_022124.6(CDH23):c.6050-1G>A SNV Likely pathogenic 866900 10:73550888-73550888 10:71791131-71791131 FND002 Fundus Dystrophy PDE6A NM_000440.3(PDE6A):c.1620+2T>A SNV Likely pathogenic 866351 5:149275917-149275917 5:149896354-149896354 FND002 Fundus Dystrophy PDE6A NM_000440.3(PDE6A):c.1407+1G>C SNV Likely pathogenic 866022 5:149277925-149277925 5:149898362-149898362 FND002 Fundus Dystrophy PDE6A NM_000440.3(PDE6A):c.1263+1G>T SNV Likely pathogenic 866165 5:149278937-149278937 5:149899374-149899374 FND002 Fundus Dystrophy PDE6A NM_000440.3(PDE6A):c.999-2A>G SNV Likely pathogenic 865804 5:149286943-149286943 5:149907380-149907380 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.581+1G>A SNV Likely pathogenic 866648 6:42689491-42689491 6:42721753-42721753 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.8233+1G>C SNV Likely pathogenic 865824 6:64436411-64436411 6:63726518-63726518 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.6191+2T>C SNV Likely pathogenic 865983 6:65016861-65016861 6:64306968-64306968 FND002 Fundus Dystrophy PDE6C NM_006204.4(PDE6C):c.481-1G>A SNV Likely pathogenic 867146 10:95380388-95380388 10:93620631-93620631 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.248-2A>G SNV Likely pathogenic 866671 11:61723188-61723188 11:61955716-61955716 FND002 Fundus Dystrophy RP2 NM_006915.3(RP2):c.324C>A (p.Cys108Ter) SNV Likely pathogenic 867051 X:46713132-46713132 X:46853697-46853697 FND002 Fundus Dystrophy RP2 NM_006915.3(RP2):c.178C>T (p.Gln60Ter) SNV Likely pathogenic 867039 X:46712986-46712986 X:46853551-46853551 FND002 Fundus Dystrophy RP2 NM_006915.3(RP2):c.168_178del (p.Val57fs) deletion Likely pathogenic 866868 X:46712972-46712982 X:46853537-46853547 FND002 Fundus Dystrophy RP2 NM_006915.3(RP2):c.770_773TGGT[1] (p.Gly259fs) short repeat Likely pathogenic 866565 X:46719424-46719427 X:46859989-46859992 FND002 Fundus Dystrophy CACNA1F NM_001256789.3(CACNA1F):c.1159dup (p.Asp387fs) duplication Likely pathogenic 867174 X:49083548-49083549 X:49227086-49227087 FND002 Fundus Dystrophy CACNA1F NM_001256789.3(CACNA1F):c.1183C>T (p.Gln395Ter) SNV Likely pathogenic 866521 X:49083525-49083525 X:49227063-49227063 FND002 Fundus Dystrophy CACNA1F NM_001256789.3(CACNA1F):c.2881C>T (p.Arg961Ter) SNV Likely pathogenic 866571 X:49074961-49074961 X:49218502-49218502 FND002 Fundus Dystrophy CACNA1F NM_001256789.3(CACNA1F):c.3153G>A (p.Trp1051Ter) SNV Likely pathogenic 867055 X:49072925-49072925 X:49216465-49216465 FND002 Fundus Dystrophy CACNA1F NM_001256789.3(CACNA1F):c.3406G>T (p.Glu1136Ter) SNV Likely pathogenic 866152 X:49071834-49071834 X:49215374-49215374 FND002 Fundus Dystrophy CHM NM_000390.4(CHM):c.1411C>T (p.Gln471Ter) SNV Likely pathogenic 865800 X:85155653-85155653 X:85900648-85900648 FND002 Fundus Dystrophy CHM NM_000390.4(CHM):c.1446del (p.Gly483fs) deletion Likely pathogenic 866059 X:85149257-85149257 X:85894252-85894252 FND002 Fundus Dystrophy CHM NM_000390.4(CHM):c.1094_1095del (p.Leu365fs) deletion Likely pathogenic 866737 X:85211229-85211230 X:85956224-85956225 FND002 Fundus Dystrophy CHM NM_000390.4(CHM):c.355C>T (p.Gln119Ter) SNV Likely pathogenic 865934 X:85219017-85219017 X:85964012-85964012 FND002 Fundus Dystrophy DRAM2 NM_178454.5(DRAM2):c.340-2A>G SNV Likely pathogenic 866620 1:111663317-111663317 1:111120695-111120695 FND002 Fundus Dystrophy GNAT2 NM_005272.5(GNAT2):c.591-1G>C SNV Likely pathogenic 866040 1:110148722-110148722 1:109606100-109606100 FND002 Fundus Dystrophy CHM XM_024452331.1:c.723del deletion Likely pathogenic 866771 FND002 Fundus Dystrophy MAK NM_001242957.3(MAK):c.485C>T (p.Thr162Ile) SNV Likely pathogenic 867222 6:10809049-10809049 6:10808816-10808816 FND002 Fundus Dystrophy MAK NM_001242957.3(MAK):c.1356_1357del (p.Glu454fs) deletion Likely pathogenic 866153 6:10784765-10784766 6:10784532-10784533 FND002 Fundus Dystrophy CHM NM_000390.4(CHM):c.37del (p.Ile12_Val13insTer) deletion Likely pathogenic 867164 X:85302500-85302500 X:86047496-86047496 FND002 Fundus Dystrophy CHM NM_000390.4(CHM):c.436_439del (p.Leu146fs) deletion Likely pathogenic 865840 X:85218933-85218936 X:85963928-85963931 FND002 Fundus Dystrophy CHM NM_000390.4(CHM):c.535dup (p.Glu179fs) duplication Likely pathogenic 867034 X:85218836-85218837 X:85963831-85963832 FND002 Fundus Dystrophy CHM NM_000390.4(CHM):c.586del (p.Asp195_Met196insTer) deletion Likely pathogenic 866915 X:85218786-85218786 X:85963781-85963781 FND002 Fundus Dystrophy CHM NM_000390.4(CHM):c.653C>G (p.Ser218Ter) SNV Likely pathogenic 866706 X:85218719-85218719 X:85963714-85963714 FND002 Fundus Dystrophy RP2 NM_006915.3(RP2):c.122_128delinsGGA (p.Met41fs) indel Likely pathogenic 866340 X:46712930-46712936 X:46853495-46853501 FND002 Fundus Dystrophy CACNA1F NM_001256789.3(CACNA1F):c.4490T>C (p.Leu1497Pro) SNV Likely pathogenic 866413 X:49066859-49066859 X:49210399-49210399 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.302+4A>C SNV Likely pathogenic 866885 1:94576990-94576990 1:94111434-94111434 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.160+2T>A SNV Likely pathogenic 867059 1:94578527-94578527 1:94112971-94112971 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.1296+2dup duplication Likely pathogenic 866972 2:112740571-112740572 2:111982994-111982995 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.2189_2189+7delinsGGGGA indel Likely pathogenic 866076 2:112777099-112777106 2:112019522-112019529 FND002 Fundus Dystrophy CERKL NM_201548.5(CERKL):c.677+1G>A SNV Likely pathogenic 866003 2:182430784-182430784 2:181566057-181566057 FND002 Fundus Dystrophy CERKL NM_201548.5(CERKL):c.896-1G>A SNV Likely pathogenic 866781 2:182413585-182413585 2:181548858-181548858 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.667-1G>A SNV Likely pathogenic 866547 3:100992587-100992587 3:101273743-101273743 FND002 Fundus Dystrophy BBS7 NM_176824.3(BBS7):c.342-2A>G SNV Likely pathogenic 866307 4:122780335-122780335 4:121859180-121859180 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.1682+1G>T SNV Likely pathogenic 867154 4:16000007-16000007 4:15998384-15998384 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.1579-2A>C SNV Likely pathogenic 866155 4:16000113-16000113 4:15998490-15998490 FND002 Fundus Dystrophy PDE6B NM_001145291.1(PDE6B):c.992+1G>A SNV Likely pathogenic 867185 4:648678-648678 4:654889-654889 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg) SNV Conflicting interpretations of pathogenicity 377404 rs758835368 1:94495177-94495177 1:94029621-94029621 FND002 Fundus Dystrophy AHI1 NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter) SNV Conflicting interpretations of pathogenicity 377455 rs780163791 6:135644432-135644432 6:135323294-135323294 FND002 Fundus Dystrophy AHI1 NM_001134831.2(AHI1):c.2714G>C (p.Cys905Ser) SNV Conflicting interpretations of pathogenicity 389095 rs199879855 6:135748355-135748355 6:135427217-135427217 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6498C>T (p.Ile2166=) SNV Conflicting interpretations of pathogenicity 377410 rs61751379 1:94463648-94463648 1:93998092-93998092 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.2039T>C (p.Ile680Thr) SNV Conflicting interpretations of pathogenicity 357732 rs376807770 6:65767605-65767605 6:65057712-65057712 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.7737T>C (p.Thr2579=) SNV Conflicting interpretations of pathogenicity 357689 rs191846522 6:64488060-64488060 6:63778167-63778167 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.11585C>G (p.Thr3862Arg) SNV Conflicting interpretations of pathogenicity 289232 rs886044126 1:215914843-215914843 1:215741501-215741501 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.382C>A (p.Leu128Ile) SNV Conflicting interpretations of pathogenicity 287294 rs147116231 8:55533908-55533908 8:54621348-54621348 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile) SNV Conflicting interpretations of pathogenicity 288341 rs575453437 1:94526230-94526230 1:94060674-94060674 FND002 Fundus Dystrophy BBS12 NM_152618.3(BBS12):c.1092del (p.Glu365fs) deletion Conflicting interpretations of pathogenicity 347497 rs770218590 4:123664139-123664139 4:122742984-122742984 FND002 Fundus Dystrophy LRAT NM_004744.5(LRAT):c.*2529C>T SNV Conflicting interpretations of pathogenicity 347877 rs185391295 4:155672817-155672817 4:154751665-154751665 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) SNV Conflicting interpretations of pathogenicity 372352 rs116471343 1:197396961-197396961 1:197427831-197427831 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys) SNV Conflicting interpretations of pathogenicity 310606 rs139998038 12:88483048-88483048 12:88089271-88089271 FND002 Fundus Dystrophy AIPL1 NM_014336.5(AIPL1):c.737A>C (p.Tyr246Ser) SNV Conflicting interpretations of pathogenicity 324614 rs138585919 17:6329982-6329982 17:6426662-6426662 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.334G>C (p.Val112Leu) SNV Conflicting interpretations of pathogenicity 357748 rs112609906 6:66204970-66204970 6:65495077-65495077 FND002 Fundus Dystrophy CDHR1 NM_033100.4(CDHR1):c.783G>A (p.Pro261=) SNV Conflicting interpretations of pathogenicity 301224 rs147346345 10:85962879-85962879 10:84203123-84203123 FND002 Fundus Dystrophy KCNV2 NM_133497.4(KCNV2):c.1063T>C (p.Phe355Leu) SNV Conflicting interpretations of pathogenicity 366419 rs75645675 9:2718802-2718802 9:2718802-2718802 FND002 Fundus Dystrophy OTX2 NM_021728.4(OTX2):c.*316G>A SNV Conflicting interpretations of pathogenicity 313415 rs142727455 14:57268137-57268137 14:56801419-56801419 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.1579-1G>C SNV Conflicting interpretations of pathogenicity 236527 rs372513650 4:16000112-16000112 4:15998489-15998489 FND002 Fundus Dystrophy BBS4 NM_033028.5(BBS4):c.712-1G>A SNV Conflicting interpretations of pathogenicity 236484 rs377031435 15:73023645-73023645 15:72731304-72731304 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.2230C>A (p.Arg744=) SNV Conflicting interpretations of pathogenicity 294676 rs150412614 1:197396685-197396685 1:197427555-197427555 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4925G>T (p.Ser1642Ile) SNV Conflicting interpretations of pathogenicity 298232 rs114518437 1:94486889-94486889 1:94021333-94021333 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4256T>C (p.Met1419Thr) SNV Conflicting interpretations of pathogenicity 298239 rs142673376 1:94496080-94496080 1:94030524-94030524 FND002 Fundus Dystrophy MMACHC NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) SNV Conflicting interpretations of pathogenicity 297484 rs200094982 1:45973996-45973996 1:45508324-45508324 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3547G>T (p.Gly1183Cys) SNV Conflicting interpretations of pathogenicity 298250 rs75267647 1:94505659-94505659 1:94040103-94040103 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys) SNV Conflicting interpretations of pathogenicity 298258 rs138157885 1:94543278-94543278 1:94077722-94077722 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1155C>T (p.Ile385=) SNV Conflicting interpretations of pathogenicity 298264 rs376624031 1:94544962-94544962 1:94079406-94079406 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.967G>C (p.Ala323Pro) SNV Conflicting interpretations of pathogenicity 284032 rs146195955 2:99012600-99012600 2:98396137-98396137 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile) SNV Conflicting interpretations of pathogenicity 281728 rs142481947 1:215916600-215916600 1:215743258-215743258 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.1597G>C (p.Asp533His) SNV Conflicting interpretations of pathogenicity 282547 rs775332304 2:99013230-99013230 2:98396767-98396767 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) SNV Conflicting interpretations of pathogenicity 283387 rs140482171 1:94543268-94543268 1:94077712-94077712 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.15987C>T (p.Tyr5329=) SNV Conflicting interpretations of pathogenicity 286688 rs142097643 5:90107064-90107064 5:90811247-90811247 FND002 Fundus Dystrophy RDH12 NM_152443.3(RDH12):c.869T>G (p.Val290Gly) SNV Conflicting interpretations of pathogenicity 285209 rs61740289 14:68200483-68200483 14:67733766-67733766 FND002 Fundus Dystrophy BBS2 NM_031885.4(BBS2):c.118G>T (p.Val40Phe) SNV Conflicting interpretations of pathogenicity 285263 rs886043059 16:56548592-56548592 16:56514680-56514680 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3194G>A (p.Gly1065Asp) SNV Conflicting interpretations of pathogenicity 265015 rs886039300 1:94508451-94508451 1:94042895-94042895 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.37C>T (p.Arg13Cys) SNV Conflicting interpretations of pathogenicity 279701 rs886041141 11:61719315-61719315 11:61951843-61951843 FND002 Fundus Dystrophy BBS12 NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys) SNV Conflicting interpretations of pathogenicity 281596 rs759088490 4:123665067-123665067 4:122743912-122743912 FND002 Fundus Dystrophy CEP164 NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter) SNV Conflicting interpretations of pathogenicity 281163 rs147398904 11:117282575-117282575 11:117411859-117411859 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.11713C>T (p.Arg3905Cys) SNV Conflicting interpretations of pathogenicity 236537 rs368675850 1:215901725-215901725 1:215728383-215728383 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.6118T>G (p.Cys2040Gly) SNV Conflicting interpretations of pathogenicity 236543 rs878853412 1:216221921-216221921 1:216048579-216048579 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.2180G>A (p.Arg727Gln) SNV Conflicting interpretations of pathogenicity 236454 rs878853354 2:112777090-112777090 2:112019513-112019513 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.1006T>C (p.Cys336Arg) SNV Conflicting interpretations of pathogenicity 236477 rs878853370 1:197325978-197325978 1:197356848-197356848 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=) SNV Conflicting interpretations of pathogenicity 236118 rs138475920 1:94490533-94490533 1:94024977-94024977 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5196+1056A>G SNV Conflicting interpretations of pathogenicity 236127 rs886044749 1:94484082-94484082 1:94018526-94018526 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4539+2028C>T SNV Conflicting interpretations of pathogenicity 236116 rs869320785 1:94492973-94492973 1:94027417-94027417 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.2343T>C (p.Asn781=) SNV Conflicting interpretations of pathogenicity 217641 rs748034744 12:88505003-88505003 12:88111226-88111226 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.2487A>G (p.Glu829=) SNV Conflicting interpretations of pathogenicity 195836 rs371159780 12:88500872-88500872 12:88107095-88107095 FND002 Fundus Dystrophy PEX1 NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp) SNV Conflicting interpretations of pathogenicity 217428 rs863225084 7:92132467-92132467 7:92503153-92503153 FND002 Fundus Dystrophy HGSNAT NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp) SNV Conflicting interpretations of pathogenicity 208815 rs754875934 8:43013853-43013853 8:43158710-43158710 FND002 Fundus Dystrophy HGSNAT NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) SNV Conflicting interpretations of pathogenicity 208816 rs112029032 8:43054647-43054647 8:43199504-43199504 FND002 Fundus Dystrophy BBS2 NM_031885.4(BBS2):c.401C>G (p.Pro134Arg) SNV Conflicting interpretations of pathogenicity 209043 rs376306240 16:56545141-56545141 16:56511229-56511229 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.10342G>A (p.Glu3448Lys) SNV Conflicting interpretations of pathogenicity 209203 rs368049814 1:215960057-215960057 1:215786715-215786715 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.6670G>T (p.Gly2224Cys) SNV Conflicting interpretations of pathogenicity 209202 rs149553844 1:216166497-216166497 1:215993155-215993155 FND002 Fundus Dystrophy PEX6 NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) SNV Conflicting interpretations of pathogenicity 198709 rs34324426 6:42935188-42935188 6:42967450-42967450 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu) SNV Conflicting interpretations of pathogenicity 198719 rs190540405 1:94546261-94546261 1:94080705-94080705 FND002 Fundus Dystrophy PHYH NM_006214.4(PHYH):c.678+5G>T SNV Conflicting interpretations of pathogenicity 198192 rs201499815 10:13330355-13330355 10:13288355-13288355 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.13478G>A (p.Arg4493His) SNV Conflicting interpretations of pathogenicity 198341 rs138879998 1:215847775-215847775 1:215674433-215674433 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) SNV Conflicting interpretations of pathogenicity 193990 rs145525174 1:94528774-94528774 1:94063218-94063218 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.3423-7_3423-4del short repeat Conflicting interpretations of pathogenicity 194768 rs534452999 3:100948438-100948441 3:101229594-101229597 FND002 Fundus Dystrophy CDHR1 NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) deletion Conflicting interpretations of pathogenicity 194793 rs794727197 10:85974313-85974319 10:84214557-84214563 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.515T>G (p.Leu172Arg) SNV Conflicting interpretations of pathogenicity 195261 rs180729424 8:55534041-55534041 8:54621481-54621481 FND002 Fundus Dystrophy NMNAT1 NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr) SNV Conflicting interpretations of pathogenicity 195375 rs138613460 1:10032168-10032168 1:9972110-9972110 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.13808A>C (p.His4603Pro) SNV Conflicting interpretations of pathogenicity 178937 rs727504551 1:215847445-215847445 1:215674103-215674103 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.3801G>A (p.Ala1267=) SNV Conflicting interpretations of pathogenicity 166508 rs537863698 1:216372979-216372979 1:216199637-216199637 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr) SNV Conflicting interpretations of pathogenicity 178583 rs142898216 1:216420404-216420404 1:216247062-216247062 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.485+12T>C SNV Conflicting interpretations of pathogenicity 166533 rs201857884 1:216595182-216595182 1:216421840-216421840 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.13336G>A (p.Gly4446Arg) SNV Conflicting interpretations of pathogenicity 179452 rs542716344 5:90079045-90079045 5:90783228-90783228 FND002 Fundus Dystrophy WHRN NM_015404.4(WHRN):c.1627-5T>A SNV Conflicting interpretations of pathogenicity 163048 rs187221008 9:117170303-117170303 9:114408023-114408023 FND002 Fundus Dystrophy NR2E3 NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys) SNV Conflicting interpretations of pathogenicity 143147 rs527236086 15:72104309-72104309 15:71811969-71811969 FND002 Fundus Dystrophy SNRNP200 NM_014014.5(SNRNP200):c.1871G>A (p.Arg624Lys) SNV Conflicting interpretations of pathogenicity 143143 rs527236115 2:96959219-96959219 2:96293481-96293481 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) SNV Conflicting interpretations of pathogenicity 143179 rs201527662 1:216419934-216419934 1:216246592-216246592 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys) SNV Conflicting interpretations of pathogenicity 164665 rs369997614 11:76870495-76870495 11:77159449-77159449 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.5474C>A (p.Thr1825Asn) SNV Conflicting interpretations of pathogenicity 167050 rs182151153 6:65300286-65300286 6:64590393-64590393 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.4441+7C>T SNV Conflicting interpretations of pathogenicity 164704 rs372493678 11:76908650-76908650 11:77197605-77197605 FND002 Fundus Dystrophy CNGB1 NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) SNV Conflicting interpretations of pathogenicity 166891 rs201162411 16:57935275-57935275 16:57901371-57901371 FND002 Fundus Dystrophy CERKL NM_201548.5(CERKL):c.1523C>T (p.Ser508Leu) SNV Conflicting interpretations of pathogenicity 166843 rs146913105 2:182403834-182403834 2:181539107-181539107 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg) SNV Conflicting interpretations of pathogenicity 166616 rs113106943 1:94487404-94487404 1:94021848-94021848 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1029T>C (p.Asn343=) SNV Conflicting interpretations of pathogenicity 166617 rs145483148 1:94546104-94546104 1:94080548-94080548 FND002 Fundus Dystrophy NR2E3 NM_014249.4(NR2E3):c.646G>A (p.Gly216Ser) SNV Conflicting interpretations of pathogenicity 191061 rs368098126 15:72104750-72104750 15:71812410-71812410 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) SNV Conflicting interpretations of pathogenicity 189230 rs749909863 6:64940493-64940493 6:64230600-64230600 FND002 Fundus Dystrophy PDE6A NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) SNV Conflicting interpretations of pathogenicity 193099 rs141252097 5:149323933-149323933 5:149944370-149944370 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=) SNV Conflicting interpretations of pathogenicity 136239 rs570745701 1:94508360-94508360 1:94042804-94042804 FND002 Fundus Dystrophy MFSD8 NM_152778.3(MFSD8):c.1351-9C>A SNV Conflicting interpretations of pathogenicity 138226 rs75039907 4:128842000-128842000 4:127920845-127920845 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.71G>A (p.Arg24His) SNV Conflicting interpretations of pathogenicity 99498 rs62645958 1:94578618-94578618 1:94113062-94113062 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.89A>G (p.Lys30Arg) SNV Conflicting interpretations of pathogenicity 99769 rs281865218 11:61719367-61719367 11:61951895-61951895 FND002 Fundus Dystrophy KIZ NM_018474.6(KIZ):c.226C>T (p.Arg76Ter) SNV Conflicting interpretations of pathogenicity 128241 rs202210819 20:21117104-21117104 20:21136463-21136463 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.981C>T (p.Pro327=) SNV Conflicting interpretations of pathogenicity 99516 rs61753057 1:94546152-94546152 1:94080596-94080596 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.656G>C (p.Arg219Thr) SNV Conflicting interpretations of pathogenicity 99470 rs61748537 1:94564462-94564462 1:94098906-94098906 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) SNV Conflicting interpretations of pathogenicity 99448 rs62642564 1:94466624-94466624 1:94001068-94001068 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) SNV Conflicting interpretations of pathogenicity 99434 rs61748536 1:94564500-94564500 1:94098944-94098944 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) SNV Conflicting interpretations of pathogenicity 99398 rs1800552 1:94476377-94476377 1:94010821-94010821 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp) SNV Conflicting interpretations of pathogenicity 99373 rs61753029 1:94480146-94480146 1:94014590-94014590 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5186T>C (p.Leu1729Pro) SNV Conflicting interpretations of pathogenicity 99350 rs61750567 1:94485148-94485148 1:94019592-94019592 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met) SNV Conflicting interpretations of pathogenicity 99239 rs61752424 1:94502756-94502756 1:94037200-94037200 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4169T>C (p.Leu1390Pro) SNV Conflicting interpretations of pathogenicity 99255 rs61752430 1:94496636-94496636 1:94031080-94031080 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg) SNV Conflicting interpretations of pathogenicity 99293 rs281865402 1:94495002-94495002 1:94029446-94029446 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4668-15C>T SNV Conflicting interpretations of pathogenicity 99308 rs61754054 1:94487522-94487522 1:94021966-94021966 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) SNV Conflicting interpretations of pathogenicity 99311 rs1762111 1:94487490-94487490 1:94021934-94021934 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met) SNV Conflicting interpretations of pathogenicity 99341 rs61753019 1:94485278-94485278 1:94019722-94019722 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile) SNV Conflicting interpretations of pathogenicity 99343 rs61750563 1:94485257-94485257 1:94019701-94019701 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg) SNV Conflicting interpretations of pathogenicity 99332 rs61753017 1:94486888-94486888 1:94021332-94021332 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2827C>T (p.Arg943Trp) SNV Conflicting interpretations of pathogenicity 99162 rs61749446 1:94512566-94512566 1:94047010-94047010 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2948C>T (p.Thr983Ile) SNV Conflicting interpretations of pathogenicity 99178 rs61752411 1:94510271-94510271 1:94044715-94044715 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala) SNV Conflicting interpretations of pathogenicity 99180 rs61749454 1:94510253-94510253 1:94044697-94044697 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) SNV Conflicting interpretations of pathogenicity 99182 rs61749455 1:94510248-94510248 1:94044692-94044692 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg) SNV Conflicting interpretations of pathogenicity 99087 rs61749412 1:94528251-94528251 1:94062695-94062695 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) SNV Conflicting interpretations of pathogenicity 99101 rs61749417 1:94528143-94528143 1:94062587-94062587 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) SNV Conflicting interpretations of pathogenicity 99102 rs61754024 1:94528142-94528142 1:94062586-94062586 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu) SNV Conflicting interpretations of pathogenicity 99135 rs61750202 1:94520801-94520801 1:94055245-94055245 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu) SNV Conflicting interpretations of pathogenicity 99113 rs62654397 1:94577093-94577093 1:94111537-94111537 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala) SNV Conflicting interpretations of pathogenicity 99141 rs61749435 1:94520708-94520708 1:94055152-94055152 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1007C>G (p.Ser336Cys) SNV Conflicting interpretations of pathogenicity 99024 rs61748547 1:94546126-94546126 1:94080570-94080570 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1015T>G (p.Trp339Gly) SNV Conflicting interpretations of pathogenicity 99025 rs61751420 1:94546118-94546118 1:94080562-94080562 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1610G>A (p.Arg537His) SNV Conflicting interpretations of pathogenicity 99064 rs61752395 1:94528818-94528818 1:94063262-94063262 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg) SNV Conflicting interpretations of pathogenicity 99045 rs61748552 1:94544167-94544167 1:94078611-94078611 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) deletion Conflicting interpretations of pathogenicity 96659 rs398124615 1:197297974-197297982 1:197328844-197328852 FND002 Fundus Dystrophy IFT140 NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) SNV Conflicting interpretations of pathogenicity 97054 rs199826737 16:1621495-1621495 16:1571494-1571494 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.9433C>T (p.Leu3145Phe) SNV Conflicting interpretations of pathogenicity 73556 rs267598373 1:215990476-215990476 1:215817134-215817134 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3539C>T (p.Ser1180Leu) SNV Conflicting interpretations of pathogenicity 73982 1:94505667-94505667 1:94040111-94040111 FND002 Fundus Dystrophy PDE6B NM_000283.3(PDE6B):c.313G>A (p.Glu105Lys) SNV Conflicting interpretations of pathogenicity 92767 rs398123299 4:619728-619728 4:625939-625939 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr) SNV Conflicting interpretations of pathogenicity 48601 rs111033529 1:216052233-216052233 1:215878891-215878891 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) SNV Conflicting interpretations of pathogenicity 48546 rs41302239 1:216243634-216243634 1:216070292-216070292 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.2777G>A (p.Arg926His) SNV Conflicting interpretations of pathogenicity 48491 rs146916397 1:216419959-216419959 1:216246617-216246617 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.6347A>G (p.His2116Arg) SNV Conflicting interpretations of pathogenicity 48559 rs111033450 1:216173883-216173883 1:216000541-216000541 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.653T>A (p.Val218Glu) SNV Conflicting interpretations of pathogenicity 48564 rs397518026 1:216538426-216538426 1:216365084-216365084 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) SNV Conflicting interpretations of pathogenicity 48511 rs201709513 1:216370040-216370040 1:216196698-216196698 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) SNV Conflicting interpretations of pathogenicity 48520 rs41303255 1:216348635-216348635 1:216175293-216175293 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys) SNV Conflicting interpretations of pathogenicity 48397 rs111033275 1:215848910-215848910 1:215675568-215675568 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr) SNV Conflicting interpretations of pathogenicity 48400 rs112120466 1:215848696-215848696 1:215675354-215675354 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp) SNV Conflicting interpretations of pathogenicity 48409 rs397517984 1:215848379-215848379 1:215675037-215675037 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.15471C>T (p.Ser5157=) SNV Conflicting interpretations of pathogenicity 46279 rs146082509 5:90106548-90106548 5:90810731-90810731 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp) SNV Conflicting interpretations of pathogenicity 46316 rs200945405 5:89948189-89948189 5:90652372-90652372 FND002 Fundus Dystrophy CLRN1 NM_001195794.1(CLRN1):c.142A>G (p.Asn48Asp) SNV Conflicting interpretations of pathogenicity 48143 rs397517930 3:150690354-150690354 3:150972567-150972567 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly) SNV Conflicting interpretations of pathogenicity 48342 rs397517963 1:216498790-216498790 1:216325448-216325448 FND002 Fundus Dystrophy CDH23 NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe) SNV Conflicting interpretations of pathogenicity 45916 rs200542052 10:73472562-73472562 10:71712805-71712805 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) SNV Conflicting interpretations of pathogenicity 43298 rs397516323 11:76918395-76918395 11:77207350-77207350 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) SNV Conflicting interpretations of pathogenicity 39614 rs62645748 1:197403836-197403836 1:197434706-197434706 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys) SNV Conflicting interpretations of pathogenicity 43135 rs199818783 11:76871260-76871260 11:77160214-77160214 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) SNV Conflicting interpretations of pathogenicity 7892 rs28938473 1:94473287-94473287 1:94007731-94007731 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) SNV Conflicting interpretations of pathogenicity 7912 rs121909207 1:94480221-94480221 1:94014665-94014665 FND002 Fundus Dystrophy BBS1 NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) SNV Conflicting interpretations of pathogenicity 12147 rs121917778 11:66298444-66298444 11:66530973-66530973 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg) SNV Conflicting interpretations of pathogenicity 9476 rs104893615 2:99013302-99013302 2:98396839-98396839 FND002 Fundus Dystrophy BBS1 NM_024649.5(BBS1):c.670G>A (p.Glu224Lys) SNV Conflicting interpretations of pathogenicity 35753 rs193922709 11:66287166-66287166 11:66519695-66519695 FND002 Fundus Dystrophy GPR179 NM_001004334.4(GPR179):c.984del (p.Ser329fs) deletion Conflicting interpretations of pathogenicity 31204 rs770066665 17:36493523-36493523 17:38337640-38337640 FND002 Fundus Dystrophy CYP4V2 NM_207352.4(CYP4V2):c.802-8_810delinsGC indel Conflicting interpretations of pathogenicity 39271 rs207482233 4:187122303-187122319 4:186201149-186201165 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) SNV Conflicting interpretations of pathogenicity 7884 rs41292677 1:94467548-94467548 1:94001992-94001992 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln) SNV Conflicting interpretations of pathogenicity 7900 rs61748559 1:94528713-94528713 1:94063157-94063157 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) SNV Conflicting interpretations of pathogenicity 99067 rs61751392 1:94528806-94528806 1:94063250-94063250 FND002 Fundus Dystrophy NR2E3 NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln) SNV Conflicting interpretations of pathogenicity 5530 rs104894493 15:72103931-72103931 15:71811591-71811591 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) SNV Conflicting interpretations of pathogenicity 7879 rs76157638 1:94517254-94517254 1:94051698-94051698 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) SNV Conflicting interpretations of pathogenicity 7880 rs58331765 1:94512602-94512602 1:94047046-94047046 FND002 Fundus Dystrophy CNGB3 NM_019098.4(CNGB3):c.1148del (p.Thr383fs) deletion Conflicting interpretations of pathogenicity 5225 rs397515360 8:87656009-87656009 8:86643781-86643781 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.682G>A (p.Asp228Asn) SNV Conflicting interpretations of pathogenicity 2748 rs267606676 11:61724904-61724904 11:61957432-61957432 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.422G>A (p.Arg141His) SNV Conflicting interpretations of pathogenicity 2740 rs121918284 11:61723364-61723364 11:61955892-61955892 FND002 Fundus Dystrophy CLRN1 NM_001195794.1(CLRN1):c.144T>G (p.Asn48Lys) SNV Conflicting interpretations of pathogenicity 4395 rs111033258 3:150690352-150690352 3:150972565-150972565 FND002 Fundus Dystrophy CLRN1-AS1 NM_001195794.1(CLRN1):c.144T>G (p.Asn48Lys) SNV Conflicting interpretations of pathogenicity 4395 rs111033258 3:150690352-150690352 3:150972565-150972565 FND002 Fundus Dystrophy CLRN1 NM_001195794.1(CLRN1):c.118T>G (p.Cys40Gly) SNV Conflicting interpretations of pathogenicity 4399 rs121908143 3:150690378-150690378 3:150972591-150972591 FND002 Fundus Dystrophy BBS12 NM_152618.3(BBS12):c.865G>C (p.Ala289Pro) SNV Conflicting interpretations of pathogenicity 1150 rs121918328 4:123663912-123663912 4:122742757-122742757 FND002 Fundus Dystrophy RP1L1 NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) SNV Conflicting interpretations of pathogenicity 2193 rs267607017 8:10480579-10480579 8:10623069-10623069 FND002 Fundus Dystrophy TTC8 NM_144596.4(TTC8):c.489G>A (p.Thr163=) SNV Conflicting interpretations of pathogenicity 2530 rs119103286 14:89307540-89307540 14:88841196-88841196 FND002 Fundus Dystrophy RAX2 NM_001319074.4(RAX2):c.155C>G (p.Pro52Arg) SNV Conflicting interpretations of pathogenicity 834260 19:3771586-3771586 19:3771588-3771588 FND002 Fundus Dystrophy CRX NM_000554.6(CRX):c.118C>T (p.Arg40Trp) SNV Conflicting interpretations of pathogenicity 864383 19:48339517-48339517 19:47836260-47836260 FND002 Fundus Dystrophy CRX NM_000554.6(CRX):c.594_606del (p.Ser199fs) deletion Conflicting interpretations of pathogenicity 839142 19:48342916-48342928 19:47839659-47839671 FND002 Fundus Dystrophy PDE6B NM_001145291.1(PDE6B):c.1624C>T (p.Arg542Trp) SNV Conflicting interpretations of pathogenicity 849373 4:655932-655932 4:662143-662143 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.646C>G (p.Pro216Ala) SNV Conflicting interpretations of pathogenicity 844144 6:42672285-42672285 6:42704547-42704547 FND002 Fundus Dystrophy CDHR1 NM_033100.4(CDHR1):c.2410_2485del (p.Thr804fs) deletion Conflicting interpretations of pathogenicity 861808 10:85974206-85974281 10:84214450-84214525 FND002 Fundus Dystrophy NRL NM_001354768.3(NRL):c.654del (p.Cys219fs) deletion Conflicting interpretations of pathogenicity 853152 14:24550505-24550505 14:24081296-24081296 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.8758A>G (p.Thr2920Ala) SNV Conflicting interpretations of pathogenicity 846165 1:216040436-216040436 1:215867094-215867094 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu) SNV Conflicting interpretations of pathogenicity 841656 1:215848120-215848120 1:215674778-215674778 FND002 Fundus Dystrophy CNGB1 NM_001297.5(CNGB1):c.1024A>G (p.Lys342Glu) SNV Conflicting interpretations of pathogenicity 833526 16:57984295-57984295 16:57950391-57950391 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro) SNV Conflicting interpretations of pathogenicity 840207 1:197396755-197396755 1:197427625-197427625 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1749G>C (p.Lys583Asn) SNV Conflicting interpretations of pathogenicity 814001 1:94528679-94528679 1:94063123-94063123 FND002 Fundus Dystrophy CFAP410 NM_004928.3(CFAP410):c.96+6T>A SNV Conflicting interpretations of pathogenicity 809297 21:45757526-45757526 21:44337643-44337643 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.1021G>A (p.Glu341Lys) SNV Conflicting interpretations of pathogenicity 812033 3:129252535-129252535 3:129533692-129533692 FND002 Fundus Dystrophy SAG NM_000541.5(SAG):c.440G>T (p.Cys147Phe) SNV Conflicting interpretations of pathogenicity 862338 2:234235771-234235771 2:233327125-233327125 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.969C>A (p.Cys323Ter) SNV Conflicting interpretations of pathogenicity 834364 3:129252483-129252483 3:129533640-129533640 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5935A>G (p.Thr1979Ala) SNV Conflicting interpretations of pathogenicity 806158 1:94473260-94473260 1:94007704-94007704 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg) SNV Conflicting interpretations of pathogenicity 812458 1:216420440-216420440 1:216247098-216247098 FND002 Fundus Dystrophy SEMA4A NM_022367.4(SEMA4A):c.302T>C (p.Ile101Thr) SNV Conflicting interpretations of pathogenicity 806246 1:156127862-156127862 1:156158071-156158071 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val) SNV Conflicting interpretations of pathogenicity 689736 1:94467475-94467475 1:94001919-94001919 FND002 Fundus Dystrophy TULP1 NM_003322.6(TULP1):c.1082G>A (p.Arg361Gln) SNV Conflicting interpretations of pathogenicity 802209 6:35473548-35473548 6:35505771-35505771 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.851A>G (p.Glu284Gly) SNV Conflicting interpretations of pathogenicity 801622 1:216498939-216498939 1:216325597-216325597 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.2110C>T (p.Arg704Cys) SNV Conflicting interpretations of pathogenicity 636223 4:15989306-15989306 4:15987683-15987683 FND002 Fundus Dystrophy NPHP4 NM_015102.5(NPHP4):c.7G>T (p.Asp3Tyr) SNV Conflicting interpretations of pathogenicity 695555 1:6046343-6046343 1:5986283-5986283 FND002 Fundus Dystrophy RDH12 NM_152443.3(RDH12):c.806C>G (p.Ala269Gly) SNV Conflicting interpretations of pathogenicity 767105 14:68196055-68196055 14:67729338-67729338 FND002 Fundus Dystrophy IFT140 NM_014714.4(IFT140):c.1574G>C (p.Cys525Ser) SNV Conflicting interpretations of pathogenicity 766901 16:1621486-1621486 16:1571485-1571485 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4467G>T (p.Arg1489Ser) SNV Conflicting interpretations of pathogenicity 780251 1:94495073-94495073 1:94029517-94029517 FND002 Fundus Dystrophy SLC7A14 NM_020949.3(SLC7A14):c.615G>A (p.Leu205=) SNV Conflicting interpretations of pathogenicity 711903 3:170216600-170216600 3:170498811-170498811 FND002 Fundus Dystrophy PDE6B NM_000283.3(PDE6B):c.2371G>A (p.Glu791Lys) SNV Conflicting interpretations of pathogenicity 716106 4:661663-661663 4:667874-667874 FND002 Fundus Dystrophy IFT140 NM_014714.4(IFT140):c.4208_4210GGC[4] (p.Arg1405dup) short repeat Conflicting interpretations of pathogenicity 719195 16:1561117-1561118 16:1511116-1511117 FND002 Fundus Dystrophy SEMA4A NM_022367.4(SEMA4A):c.224C>G (p.Thr75Ser) SNV Conflicting interpretations of pathogenicity 730955 1:156126289-156126289 1:156156498-156156498 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.788A>G (p.His263Arg) SNV Conflicting interpretations of pathogenicity 732960 6:66200561-66200561 6:65490668-65490668 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.1187G>A (p.Arg396Gln) SNV Conflicting interpretations of pathogenicity 731610 8:55537629-55537629 8:54625069-54625069 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.6167G>A (p.Gly2056Asp) SNV Conflicting interpretations of pathogenicity 731611 8:55542609-55542609 8:54630049-54630049 FND002 Fundus Dystrophy KLHL7 NM_001031710.3(KLHL7):c.936+9T>A SNV Conflicting interpretations of pathogenicity 731601 7:23191837-23191837 7:23152218-23152218 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.6801G>A (p.Pro2267=) SNV Conflicting interpretations of pathogenicity 744625 1:216166366-216166366 1:215993024-215993024 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.5608C>T (p.Arg1870Trp) SNV Conflicting interpretations of pathogenicity 744560 1:216246607-216246607 1:216073265-216073265 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.748+6A>T SNV Conflicting interpretations of pathogenicity 737220 6:66204550-66204550 6:65494657-65494657 FND002 Fundus Dystrophy RPE65 NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly) SNV Conflicting interpretations of pathogenicity 750796 1:68896768-68896768 1:68431085-68431085 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.8146G>A (p.Glu2716Lys) SNV Conflicting interpretations of pathogenicity 762734 1:216061845-216061845 1:215888503-215888503 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.5233G>A (p.Asp1745Asn) SNV Conflicting interpretations of pathogenicity 762528 6:65300527-65300527 6:64590634-64590634 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.13071A>C (p.Ser4357=) SNV Conflicting interpretations of pathogenicity 798105 1:215848182-215848182 1:215674840-215674840 FND002 Fundus Dystrophy NR2E3 NM_014249.4(NR2E3):c.747+8C>T SNV Conflicting interpretations of pathogenicity 796771 15:72104859-72104859 15:71812519-71812519 FND002 Fundus Dystrophy NR2E3 NM_014249.4(NR2E3):c.572-6C>T SNV Conflicting interpretations of pathogenicity 799618 15:72104670-72104670 15:71812330-71812330 FND002 Fundus Dystrophy C1QTNF5 NM_031433.4(MFRP):c.1124+1G>T SNV Conflicting interpretations of pathogenicity 631652 rs145719998 11:119214525-119214525 11:119343815-119343815 FND002 Fundus Dystrophy MFRP NM_031433.4(MFRP):c.1124+1G>T SNV Conflicting interpretations of pathogenicity 631652 rs145719998 11:119214525-119214525 11:119343815-119343815 FND002 Fundus Dystrophy KCNV2 NM_133497.4(KCNV2):c.1347G>A (p.Trp449Ter) SNV Conflicting interpretations of pathogenicity 632039 rs778977288 9:2719086-2719086 9:2719086-2719086 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.1391G>A (p.Arg464His) SNV Conflicting interpretations of pathogenicity 636117 1:216496975-216496975 1:216323633-216323633 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp) SNV Conflicting interpretations of pathogenicity 632119 rs771038310 1:94485221-94485221 1:94019665-94019665 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr) SNV Conflicting interpretations of pathogenicity 631618 rs374410829 1:94520853-94520853 1:94055297-94055297 FND002 Fundus Dystrophy CERKL NM_201548.5(CERKL):c.1084_1085TG[1] (p.Cys362_Glu363delinsTer) short repeat Conflicting interpretations of pathogenicity 632335 rs776727320 2:182413318-182413319 2:181548591-181548592 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.1574_1577TTCT[1] (p.Ser527fs) short repeat Conflicting interpretations of pathogenicity 631902 rs1559643320 3:100963594-100963597 3:101244750-101244753 FND002 Fundus Dystrophy WDR19 NM_025132.4(WDR19):c.641T>A (p.Leu214Ter) SNV Conflicting interpretations of pathogenicity 632439 rs751290509 4:39206811-39206811 4:39205191-39205191 FND002 Fundus Dystrophy AHI1 NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter) SNV Conflicting interpretations of pathogenicity 624266 rs777215595 6:135715991-135715991 6:135394853-135394853 FND002 Fundus Dystrophy IMPDH1 NM_000883.4(IMPDH1):c.967A>G (p.Lys323Glu) SNV Conflicting interpretations of pathogenicity 618691 rs1562989913 7:128038575-128038575 7:128398521-128398521 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.2245C>T (p.Leu749Phe) SNV Conflicting interpretations of pathogenicity 597524 rs147990983 8:55538687-55538687 8:54626127-54626127 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala) SNV Conflicting interpretations of pathogenicity 598143 rs149802213 2:99012444-99012444 2:98395981-98395981 FND002 Fundus Dystrophy GUCY2D NM_000180.4(GUCY2D):c.2618C>G (p.Pro873Arg) SNV Conflicting interpretations of pathogenicity 575081 rs1567961680 17:7918218-7918218 17:8014900-8014900 FND002 Fundus Dystrophy BBS2 NM_031885.4(BBS2):c.241G>T (p.Gly81Cys) SNV Conflicting interpretations of pathogenicity 557198 rs750506474 16:56548469-56548469 16:56514557-56514557 FND002 Fundus Dystrophy BBS12 NM_152618.3(BBS12):c.476C>T (p.Pro159Leu) SNV Conflicting interpretations of pathogenicity 555505 rs1450190654 4:123663523-123663523 4:122742368-122742368 FND002 Fundus Dystrophy CERKL NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter) SNV Conflicting interpretations of pathogenicity 555316 rs1187839124 2:182409489-182409489 2:181544762-181544762 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.1001G>A (p.Arg334Gln) SNV Conflicting interpretations of pathogenicity 552304 rs758303489 1:216498789-216498789 1:216325447-216325447 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.15178T>C (p.Ser5060Pro) SNV Conflicting interpretations of pathogenicity 552090 rs752377040 1:215807920-215807920 1:215634578-215634578 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.14384T>G (p.Leu4795Arg) SNV Conflicting interpretations of pathogenicity 553162 rs199851839 1:215822068-215822068 1:215648726-215648726 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.12790G>A (p.Glu4264Lys) SNV Conflicting interpretations of pathogenicity 550300 rs200792578 1:215848463-215848463 1:215675121-215675121 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.762_764CAT[2] (p.Ile256del) short repeat Conflicting interpretations of pathogenicity 497286 rs1553781360 3:129251440-129251442 3:129532597-129532599 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.6998T>C (p.Val2333Ala) SNV Conflicting interpretations of pathogenicity 517500 rs144817385 1:216138781-216138781 1:215965439-215965439 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5196+1136C>A SNV Conflicting interpretations of pathogenicity 516809 rs114147805 1:94484002-94484002 1:94018446-94018446 FND002 Fundus Dystrophy RP1L1 NM_178857.6(RP1L1):c.1762G>T (p.Asp588Tyr) SNV Conflicting interpretations of pathogenicity 493471 rs200344135 8:10469846-10469846 8:10612336-10612336 FND002 Fundus Dystrophy PDE6B NM_000283.3(PDE6B):c.811G>A (p.Glu271Lys) SNV Conflicting interpretations of pathogenicity 497466 rs374156343 4:647740-647740 4:653951-653951 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.815G>T (p.Gly272Val) SNV Conflicting interpretations of pathogenicity 449507 rs1555793203 19:54627995-54627995 19:54124616-54124616 FND002 Fundus Dystrophy HARS1 NM_002109.6(HARS1):c.1445C>T (p.Thr482Met) SNV Conflicting interpretations of pathogenicity 472990 rs147372931 5:140054277-140054277 5:140674692-140674692 FND002 Fundus Dystrophy MAK NM_001242957.3(MAK):c.1700_1703del (p.Asn567fs) deletion Conflicting interpretations of pathogenicity 444672 rs1347914291 6:10770433-10770436 6:10770200-10770203 FND002 Fundus Dystrophy KIAA0586 NM_001329943.3(KIAA0586):c.94dup (p.His32fs) duplication Conflicting interpretations of pathogenicity 445497 rs555421894 14:58895075-58895076 14:58428357-58428358 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.17987G>T (p.Trp5996Leu) SNV Conflicting interpretations of pathogenicity 445736 rs544077645 5:90281174-90281174 5:90985357-90985357 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.13361T>A (p.Val4454Asp) SNV Conflicting interpretations of pathogenicity 440396 rs148033154 1:215847892-215847892 1:215674550-215674550 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) SNV Conflicting interpretations of pathogenicity 438211 rs112822256 6:66115146-66115146 6:65405253-65405253 FND002 Fundus Dystrophy KLHL7 NM_001031710.3(KLHL7):c.433A>G (p.Asn145Asp) SNV Conflicting interpretations of pathogenicity 438051 rs1182983579 7:23164782-23164782 7:23125163-23125163 FND002 Fundus Dystrophy CTNNA1 NM_001903.5(CTNNA1):c.965C>T (p.Ser322Leu) SNV Conflicting interpretations of pathogenicity 437999 rs1554085478 5:138163310-138163310 5:138827621-138827621 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2813T>C (p.Phe938Ser) SNV Conflicting interpretations of pathogenicity 438091 rs149071415 1:94512580-94512580 1:94047024-94047024 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter) SNV Conflicting interpretations of pathogenicity 438069 rs369775002 1:197390141-197390141 1:197421011-197421011 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.9882C>G (p.Cys3294Trp) SNV Conflicting interpretations of pathogenicity 438036 rs749228276 1:215972325-215972325 1:215798983-215798983 FND002 Fundus Dystrophy BBS12 NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) deletion Conflicting interpretations of pathogenicity 434492 rs752762669 4:123664577-123664585 4:122743422-122743430 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp) SNV Conflicting interpretations of pathogenicity 430362 rs1131691924 5:90087011-90087011 5:90791194-90791194 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.14219C>A (p.Ala4740Asp) SNV Conflicting interpretations of pathogenicity 429215 rs539192853 1:215824058-215824058 1:215650716-215650716 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly) SNV Conflicting interpretations of pathogenicity 425384 rs188093810 6:65149147-65149147 6:64439254-64439254 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.4030T>C (p.Phe1344Leu) SNV Conflicting interpretations of pathogenicity 426263 rs146256526 8:55540472-55540472 8:54627912-54627912 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.1209_1229del (p.Gln403_Ser410delinsHis) deletion Conflicting interpretations of pathogenicity 425332 rs777497868 4:16010644-16010664 4:16009021-16009041 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3607G>A (p.Gly1203Arg) SNV Conflicting interpretations of pathogenicity 417989 rs1064793011 1:94505599-94505599 1:94040043-94040043 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1807T>C (p.Tyr603His) SNV Conflicting interpretations of pathogenicity 417981 rs1064793006 1:94528263-94528263 1:94062707-94062707 FND002 Fundus Dystrophy MFSD8 NM_152778.3(MFSD8):c.1361T>C (p.Met454Thr) SNV Conflicting interpretations of pathogenicity 418295 rs559155109 4:128841981-128841981 4:127920826-127920826 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.522G>C (p.Trp174Cys) SNV Conflicting interpretations of pathogenicity 418425 rs1064793237 6:42689551-42689551 6:42721813-42721813 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.2137+1G>A SNV Conflicting interpretations of pathogenicity 421249 rs199740930 6:65767506-65767506 6:65057613-65057613 FND002 Fundus Dystrophy HGSNAT NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp) SNV Conflicting interpretations of pathogenicity 422050 rs1064795522 8:43047463-43047463 8:43192320-43192320 FND002 Fundus Dystrophy RP1L1 NM_178857.6(RP1L1):c.2878T>C (p.Trp960Arg) SNV Uncertain significance 2194 rs267607018 8:10468730-10468730 8:10611220-10611220 FND002 Fundus Dystrophy RIMS1 NM_014989.5(RIMS1):c.2459G>A (p.Arg820His) SNV Uncertain significance 4168 rs121918302 6:72960710-72960710 6:72251007-72251007 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.418C>G (p.Leu140Val) SNV Uncertain significance 2750 rs267606678 11:61723360-61723360 11:61955888-61955888 FND002 Fundus Dystrophy TRPM1 NM_001252024.2(TRPM1):c.1898C>A (p.Pro633His) SNV Uncertain significance 6228 rs267607139 15:31334343-31334343 15:31042140-31042140 FND002 Fundus Dystrophy CACNA2D4 NM_172364.5(CACNA2D4):c.310-8C>G SNV Uncertain significance 866690 12:2022313-2022313 12:1913147-1913147 FND002 Fundus Dystrophy COL2A1 NM_001844.5(COL2A1):c.2301+8_2301+9delinsA indel Uncertain significance 867133 12:48376276-48376277 12:47982493-47982494 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.850-3C>G SNV Uncertain significance 867157 11:76869320-76869320 11:77158274-77158274 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.1201-5T>C SNV Uncertain significance 865812 11:76872014-76872014 11:77160968-77160968 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.4853-11C>G SNV Uncertain significance 866934 11:76912482-76912482 11:77201437-77201437 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.6646-18A>G SNV Uncertain significance 866223 12:88452815-88452815 12:88059038-88059038 FND002 Fundus Dystrophy TTC8 NM_144596.4(TTC8):c.490-9C>A SNV Uncertain significance 866587 14:89307760-89307760 14:88841416-88841416 FND002 Fundus Dystrophy TTC8 NM_144596.4(TTC8):c.624+2825T>G SNV Uncertain significance 866497 14:89313019-89313019 14:88846675-88846675 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.4813-4A>G SNV Uncertain significance 866907 12:88477011-88477011 12:88083234-88083234 FND002 Fundus Dystrophy IFT140 NM_014714.4(IFT140):c.635-11T>G SNV Uncertain significance 865910 16:1639792-1639792 16:1589791-1589791 FND002 Fundus Dystrophy IFT140 NM_014714.4(IFT140):c.634+5G>A SNV Uncertain significance 866080 16:1642172-1642172 16:1592171-1592171 FND002 Fundus Dystrophy BBS4 NM_033028.5(BBS4):c.332+5G>A SNV Uncertain significance 866813 15:73007748-73007748 15:72715407-72715407 FND002 Fundus Dystrophy NR2E3 NM_014249.4(NR2E3):c.118+15G>A SNV Uncertain significance 867073 15:72103216-72103216 15:71810876-71810876 FND002 Fundus Dystrophy NR2E3 NM_014249.4(NR2E3):c.119-11C>A SNV Uncertain significance 866657 15:72103812-72103812 15:71811472-71811472 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.946-3C>G SNV Uncertain significance 866209 19:54631445-54631445 19:54128070-54128070 FND002 Fundus Dystrophy PRPF8 NM_006445.4(PRPF8):c.6650+5G>A SNV Uncertain significance 866792 17:1554703-1554703 17:1651409-1651409 FND002 Fundus Dystrophy PRPF8 NM_006445.4(PRPF8):c.4339-7C>T SNV Uncertain significance 866174 17:1564463-1564463 17:1661169-1661169 FND002 Fundus Dystrophy PRPF8 NM_006445.4(PRPF8):c.2181+5G>A SNV Uncertain significance 866903 17:1580265-1580265 17:1676971-1676971 FND002 Fundus Dystrophy AIPL1 NM_014336.5(AIPL1):c.784+21G>A SNV Uncertain significance 866735 17:6329914-6329914 17:6426594-6426594 FND002 Fundus Dystrophy PDE6G NM_002602.4(PDE6G):c.146+3A>G SNV Uncertain significance 866720 17:79620187-79620187 17:81653157-81653157 FND002 Fundus Dystrophy RAX2 NM_001319074.4(RAX2):c.217-12C>A SNV Uncertain significance 866905 19:3770969-3770969 19:3770971-3770971 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.1073+17G>C SNV Uncertain significance 867105 19:54631592-54631592 19:54128217-54128217 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.1074-15C>G SNV Uncertain significance 866997 19:54631665-54631665 19:54128290-54128290 FND002 Fundus Dystrophy KIZ NM_018474.6(KIZ):c.1783+15A>G SNV Uncertain significance 867192 20:21209768-21209768 20:21229130-21229130 FND002 Fundus Dystrophy ABHD12 NM_001042472.3(ABHD12):c.750-4C>G SNV Uncertain significance 867093 20:25289134-25289134 20:25308498-25308498 FND002 Fundus Dystrophy ABHD12 NM_001042472.3(ABHD12):c.620-16C>A SNV Uncertain significance 866818 20:25290227-25290227 20:25309591-25309591 FND002 Fundus Dystrophy PRPF6 NM_012469.4(PRPF6):c.2028+5G>A SNV Uncertain significance 866795 20:62657416-62657416 20:64026063-64026063 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1754-2dup duplication Uncertain significance 866849 X:38146499-38146500 X:38287246-38287247 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1754-9G>A SNV Uncertain significance 867079 X:38146507-38146507 X:38287254-38287254 FND002 Fundus Dystrophy OFD1 NM_003611.3(OFD1):c.1654+5_1654+15del deletion Uncertain significance 866295 X:13776569-13776579 X:13758450-13758460 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.310+7T>G SNV Uncertain significance 867000 X:38180273-38180273 X:38321020-38321020 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.247+5G>A SNV Uncertain significance 865888 X:38182101-38182101 X:38322848-38322848 FND002 Fundus Dystrophy CACNA1F NM_001256789.3(CACNA1F):c.1369+15A>G SNV Uncertain significance 866544 X:49083057-49083057 X:49226595-49226595 FND002 Fundus Dystrophy CACNA1F NM_001256789.3(CACNA1F):c.4008+8_4008+13del deletion Uncertain significance 866485 X:49068690-49068695 X:49212230-49212235 FND002 Fundus Dystrophy NRL NM_006177.5(NRL):c.287T>C (p.Met96Thr) SNV Uncertain significance 39510 rs397514516 14:24551771-24551771 14:24082562-24082562 FND002 Fundus Dystrophy CYP4V2 NM_207352.4(CYP4V2):c.237G>T (p.Glu79Asp) SNV Uncertain significance 39259 rs199476185 4:187115676-187115676 4:186194522-186194522 FND002 Fundus Dystrophy CYP4V2 NM_207352.4(CYP4V2):c.367A>G (p.Met123Val) SNV Uncertain significance 39264 rs149684063 4:187117196-187117196 4:186196042-186196042 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.10667G>A (p.Gly3556Glu) SNV Uncertain significance 48354 rs397517968 1:215955457-215955457 1:215782115-215782115 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro) SNV Uncertain significance 48442 rs143275144 1:215821933-215821933 1:215648591-215648591 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.264C>G (p.Cys88Trp) SNV Uncertain significance 48489 rs368798834 1:216595415-216595415 1:216422073-216422073 FND002 Fundus Dystrophy CLN3 NM_000086.2(CLN3):c.575G>A (p.Gly192Glu) SNV Uncertain significance 56284 rs386833733 16:28497770-28497770 16:28486449-28486449 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2782G>T (p.Gly928Trp) SNV Uncertain significance 92865 rs398123337 1:94512611-94512611 1:94047055-94047055 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2869C>A (p.Gln957Lys) SNV Uncertain significance 92866 rs398123338 1:94512524-94512524 1:94046968-94046968 FND002 Fundus Dystrophy GUCY2D NM_000180.4(GUCY2D):c.3181G>A (p.Gly1061Ser) SNV Uncertain significance 98596 rs62641254 17:7919565-7919565 17:8016247-8016247 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) SNV Uncertain significance 99052 rs1800548 1:94543389-94543389 1:94077833-94077833 FND002 Fundus Dystrophy RS1 NM_003159.2(CDKL5):c.2714-1527C>T SNV Uncertain significance 98969 rs1800002 X:18662600-18662600 X:18644480-18644480 FND002 Fundus Dystrophy RS1 NM_000330.3(RS1):c.52+5G>C SNV Uncertain significance 98978 rs281865338 X:18690132-18690132 X:18672012-18672012 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) SNV Uncertain significance 99033 rs61748549 1:94544977-94544977 1:94079421-94079421 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1037A>C (p.Lys346Thr) SNV Uncertain significance 99028 rs61752389 1:94546096-94546096 1:94080540-94080540 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr) SNV Uncertain significance 99143 rs61749437 1:94520694-94520694 1:94055138-94055138 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2920T>C (p.Ser974Pro) SNV Uncertain significance 99175 rs281865400 1:94510299-94510299 1:94044743-94044743 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3291A>G (p.Arg1097=) SNV Uncertain significance 99215 rs61750118 1:94508354-94508354 1:94042798-94042798 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4909G>A (p.Ala1637Thr) SNV Uncertain significance 99329 rs61754056 1:94486905-94486905 1:94021349-94021349 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4506C>T (p.Cys1502=) SNV Uncertain significance 99290 rs61750149 1:94495034-94495034 1:94029478-94029478 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val) SNV Uncertain significance 99487 rs61748521 1:94463425-94463425 1:93997869-93997869 FND002 Fundus Dystrophy AIPL1 NM_014336.5(AIPL1):c.157C>T (p.Arg53Trp) SNV Uncertain significance 99790 rs62637008 17:6337358-6337358 17:6434038-6434038 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1699G>A (p.Val567Met) SNV Uncertain significance 143073 rs74516571 1:94528729-94528729 1:94063173-94063173 FND002 Fundus Dystrophy KCNV2 NM_133497.4(KCNV2):c.48G>C (p.Trp16Cys) SNV Uncertain significance 193485 rs146685593 9:2717787-2717787 9:2717787-2717787 FND002 Fundus Dystrophy PDE6A NM_000440.3(PDE6A):c.1407G>C (p.Leu469Phe) SNV Uncertain significance 167433 rs727504073 5:149277926-149277926 5:149898363-149898363 FND002 Fundus Dystrophy ELOVL4 NM_022726.4(ELOVL4):c.467T>C (p.Phe156Ser) SNV Uncertain significance 167037 rs727503917 6:80631416-80631416 6:79921699-79921699 FND002 Fundus Dystrophy CDH23 NM_022124.6(CDH23):c.3230C>T (p.Pro1077Leu) SNV Uncertain significance 162905 rs202101019 10:73472431-73472431 10:71712674-71712674 FND002 Fundus Dystrophy CDH23 NM_022124.6(CDH23):c.6050-15G>A SNV Uncertain significance 178309 rs373838930 10:73550874-73550874 10:71791117-71791117 FND002 Fundus Dystrophy CDH23 NM_022124.6(CDH23):c.9094G>A (p.Asp3032Asn) SNV Uncertain significance 178313 rs368603948 10:73571088-73571088 10:71811331-71811331 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.5777A>G (p.Asp1926Gly) SNV Uncertain significance 167049 rs727503922 6:65149113-65149113 6:64439220-64439220 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr) SNV Uncertain significance 164692 rs727503328 11:76901847-76901847 11:77190802-77190802 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe) SNV Uncertain significance 179130 rs727504652 1:216373196-216373196 1:216199854-216199854 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe) SNV Uncertain significance 179132 rs727504654 1:215972365-215972365 1:215799023-215799023 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro) SNV Uncertain significance 195666 rs778646190 6:65523464-65523464 6:64813571-64813571 FND002 Fundus Dystrophy CNGB1 NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys) SNV Uncertain significance 195667 rs192843629 16:57950041-57950041 16:57916137-57916137 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.4402G>C (p.Asp1468His) SNV Uncertain significance 195938 rs778752557 6:65301358-65301358 6:64591465-64591465 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) SNV Uncertain significance 196099 rs373147966 11:76900412-76900412 11:77189367-77189367 FND002 Fundus Dystrophy PDE6B NM_000283.3(PDE6B):c.1781G>T (p.Gly594Val) SNV Uncertain significance 194328 rs766049601 4:656356-656356 4:662567-662567 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) SNV Uncertain significance 194357 rs201652272 6:65707500-65707500 6:64997607-64997607 FND002 Fundus Dystrophy EFEMP1 NM_001039348.3(EFEMP1):c.418C>T (p.Arg140Trp) SNV Uncertain significance 197709 rs756065296 2:56144899-56144899 2:55917764-55917764 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.791C>G (p.Ala264Gly) SNV Uncertain significance 197784 rs199779970 2:112722801-112722801 2:111965224-111965224 FND002 Fundus Dystrophy CLN3 NM_000086.2(CLN3):c.1168G>A (p.Val390Met) SNV Uncertain significance 205100 rs777383109 16:28489087-28489087 16:28477766-28477766 FND002 Fundus Dystrophy ACO2 NM_001098.3(ACO2):c.719G>C (p.Gly240Ala) SNV Uncertain significance 214018 rs141878785 22:41911805-41911805 22:41515801-41515801 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.4741C>T (p.Leu1581Phe) SNV Uncertain significance 210696 rs11831931 12:88477695-88477695 12:88083918-88083918 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.2446C>T (p.Arg816Cys) SNV Uncertain significance 210693 rs374656545 12:88502880-88502880 12:88109103-88109103 FND002 Fundus Dystrophy GRM6 NM_000843.4(GRM6):c.1537G>A (p.Val513Met) SNV Uncertain significance 225382 rs201396068 5:178413718-178413718 5:178986717-178986717 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.302+68C>T SNV Uncertain significance 242408 rs761188244 1:94576926-94576926 1:94111370-94111370 FND002 Fundus Dystrophy RBP3 NM_002900.3(RBP3):c.249C>A (p.Asn83Lys) SNV Uncertain significance 224750 rs782215106 10:48390629-48390629 10:47348733-47348733 FND002 Fundus Dystrophy RBP3 NM_002900.3(RBP3):c.1237C>T (p.Pro413Ser) SNV Uncertain significance 224751 rs782469310 10:48389641-48389641 10:47349721-47349721 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly) SNV Uncertain significance 224749 rs869312181 11:76903286-76903286 11:77192241-77192241 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.13732A>G (p.Lys4578Glu) SNV Uncertain significance 229620 rs765354805 1:215847521-215847521 1:215674179-215674179 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) SNV Uncertain significance 229616 rs143696882 1:215853640-215853640 1:215680298-215680298 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.11366T>C (p.Ile3789Thr) SNV Uncertain significance 229615 rs183979371 1:215931960-215931960 1:215758618-215758618 FND002 Fundus Dystrophy CDH23 NM_022124.6(CDH23):c.8322_8324GAA[1] (p.Lys2775del) short repeat Uncertain significance 228504 rs876657758 10:73567285-73567287 10:71807528-71807530 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.2309G>A (p.Gly770Asp) SNV Uncertain significance 236471 rs878853365 1:197396764-197396764 1:197427634-197427634 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.2302G>A (p.Ala768Thr) SNV Uncertain significance 236453 rs878853353 2:112779111-112779111 2:112021534-112021534 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.1557G>A (p.Met519Ile) SNV Uncertain significance 236463 rs199655686 2:99013190-99013190 2:98396727-98396727 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.1931T>C (p.Phe644Ser) SNV Uncertain significance 236462 rs878853359 2:99013564-99013564 2:98397101-98397101 FND002 Fundus Dystrophy SNRNP200 NM_014014.5(SNRNP200):c.2879C>T (p.Ala960Val) SNV Uncertain significance 236419 rs138686895 2:96955598-96955598 2:96289860-96289860 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.1866G>C (p.Lys622Asn) SNV Uncertain significance 236455 rs775460185 2:112761560-112761560 2:112003983-112003983 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.2139C>T (p.Gly713=) SNV Uncertain significance 236530 rs765293412 1:216424273-216424273 1:216250931-216250931 FND002 Fundus Dystrophy RPE65 NM_000329.3(RPE65):c.726-2A>C SNV Uncertain significance 236480 rs878853372 1:68905008-68905008 1:68439325-68439325 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6107A>G (p.Tyr2036Cys) SNV Uncertain significance 236517 rs878853398 1:94471037-94471037 1:94005481-94005481 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.6104G>A (p.Cys2035Tyr) SNV Uncertain significance 236532 rs878853403 1:216221935-216221935 1:216048593-216048593 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.4251+1G>A SNV Uncertain significance 236534 rs878853405 1:216369894-216369894 1:216196552-216196552 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.6326-1G>A SNV Uncertain significance 236542 rs878853411 1:216173905-216173905 1:216000563-216000563 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.10996T>G (p.Cys3666Gly) SNV Uncertain significance 236531 rs766505885 1:215940074-215940074 1:215766732-215766732 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.13441A>G (p.Arg4481Gly) SNV Uncertain significance 236535 rs878853406 1:215847812-215847812 1:215674470-215674470 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.12095G>T (p.Gly4032Val) SNV Uncertain significance 236540 rs878853409 1:215853690-215853690 1:215680348-215680348 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.3017C>T (p.Ser1006Phe) SNV Uncertain significance 236473 rs878853367 1:197404010-197404010 1:197434880-197434880 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.2843-1G>A SNV Uncertain significance 236474 rs878853368 1:197403835-197403835 1:197434705-197434705 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.5516T>A (p.Val1839Glu) SNV Uncertain significance 265979 rs886039867 1:216251487-216251487 1:216078145-216078145 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.294C>G (p.Asn98Lys) SNV Uncertain significance 265007 rs145133167 1:94577002-94577002 1:94111446-94111446 FND002 Fundus Dystrophy RP2 NM_006915.3(RP2):c.260_268del (p.Thr87_Cys89del) deletion Uncertain significance 236489 rs878853380 X:46713067-46713075 X:46853632-46853640 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1572+1del deletion Uncertain significance 236481 rs878853373 X:38150211-38150211 X:38290958-38290958 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.908G>A (p.Gly303Glu) SNV Uncertain significance 236483 rs878853375 X:38163914-38163914 X:38304661-38304661 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.916G>A (p.Asp306Asn) SNV Uncertain significance 236423 rs878853333 19:54629963-54629963 19:54126588-54126588 FND002 Fundus Dystrophy PRPF8 NM_006445.4(PRPF8):c.6470T>A (p.Val2157Glu) SNV Uncertain significance 236502 rs878853388 17:1554982-1554982 17:1651688-1651688 FND002 Fundus Dystrophy PRPF8 NM_006445.4(PRPF8):c.4131C>T (p.Ser1377=) SNV Uncertain significance 236500 rs761899545 17:1564976-1564976 17:1661682-1661682 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.3102A>G (p.Leu1034=) SNV Uncertain significance 285915 rs201160801 12:88490666-88490666 12:88096889-88096889 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2819C>G (p.Pro940Arg) SNV Uncertain significance 286835 rs144995371 1:94512574-94512574 1:94047018-94047018 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.7475C>T (p.Ser2492Leu) SNV Uncertain significance 286836 rs483353056 1:216073536-216073536 1:215900194-215900194 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys) SNV Uncertain significance 281818 rs750396156 1:215848679-215848679 1:215675337-215675337 FND002 Fundus Dystrophy LRP5 NM_002335.4(LRP5):c.2951A>G (p.Tyr984Cys) SNV Uncertain significance 283834 rs759674127 11:68183919-68183919 11:68416451-68416451 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.1405G>T (p.Val469Phe) SNV Uncertain significance 330755 rs79943145 2:112751936-112751936 2:111994359-111994359 FND002 Fundus Dystrophy SNRNP200 NM_014014.5(SNRNP200):c.6291A>G (p.Pro2097=) SNV Uncertain significance 337524 rs886056457 2:96940870-96940870 2:96275132-96275132 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.586C>A (p.Pro196Thr) SNV Uncertain significance 343278 rs765931092 3:129251149-129251149 3:129532306-129532306 FND002 Fundus Dystrophy LRAT NM_004744.5(LRAT):c.*298_*301del deletion Uncertain significance 347854 rs886059162 4:155670583-155670586 4:154749431-154749434 FND002 Fundus Dystrophy LRAT NM_004744.5(LRAT):c.*329T>C SNV Uncertain significance 347856 rs886059164 4:155670617-155670617 4:154749465-154749465 FND002 Fundus Dystrophy LRAT NM_004744.5(LRAT):c.*1281C>A SNV Uncertain significance 347864 rs572110901 4:155671569-155671569 4:154750417-154750417 FND002 Fundus Dystrophy LRAT NM_004744.5(LRAT):c.*2190C>T SNV Uncertain significance 347868 rs886059169 4:155672478-155672478 4:154751326-154751326 FND002 Fundus Dystrophy LRAT NM_004744.5(LRAT):c.*2310A>T SNV Uncertain significance 347870 rs368622887 4:155672598-155672598 4:154751446-154751446 FND002 Fundus Dystrophy FLVCR1 NM_014053.4(FLVCR1):c.1657T>G (p.Ser553Ala) SNV Uncertain significance 295326 rs149887215 1:213068621-213068621 1:212895279-212895279 FND002 Fundus Dystrophy NPHP4 NM_015102.5(NPHP4):c.257C>T (p.Pro86Leu) SNV Uncertain significance 297830 rs201998215 1:6038352-6038352 1:5978292-5978292 FND002 Fundus Dystrophy CNGB1 NM_001297.5(CNGB1):c.2893G>A (p.Gly965Ser) SNV Uncertain significance 236509 rs559591083 16:57935339-57935339 16:57901435-57901435 FND002 Fundus Dystrophy CNGB1 NM_001297.5(CNGB1):c.2681G>A (p.Arg894His) SNV Uncertain significance 236510 rs146762538 16:57937839-57937839 16:57903935-57903935 FND002 Fundus Dystrophy CNGB1 NM_001297.5(CNGB1):c.2096A>G (p.Asp699Gly) SNV Uncertain significance 236508 rs878853393 16:57951242-57951242 16:57917338-57917338 FND002 Fundus Dystrophy CNGB1 NM_001297.5(CNGB1):c.1382C>T (p.Thr461Met) SNV Uncertain significance 236513 rs147593839 16:57965773-57965773 16:57931869-57931869 FND002 Fundus Dystrophy CRX NM_000554.6(CRX):c.100+1G>C SNV Uncertain significance 236496 rs878853384 19:48337801-48337801 19:47834544-47834544 FND002 Fundus Dystrophy CRX NM_000554.6(CRX):c.605del (p.Cys202fs) deletion Uncertain significance 236495 rs878853383 19:48342929-48342929 19:47839672-47839672 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.121C>G (p.Leu41Val) SNV Uncertain significance 236422 rs878853332 19:54621779-54621779 19:54118399-54118399 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.341T>A (p.Ile114Asn) SNV Uncertain significance 236420 rs878853330 19:54625894-54625894 19:54122515-54122515 FND002 Fundus Dystrophy SPATA7 NM_018418.5(SPATA7):c.1241_1252del (p.Val414_Val417del) deletion Uncertain significance 236498 rs878853386 14:88904206-88904217 14:88437862-88437873 FND002 Fundus Dystrophy NR2E3 NM_014249.4(NR2E3):c.191G>T (p.Cys64Phe) SNV Uncertain significance 236514 rs878853395 15:72103895-72103895 15:71811555-71811555 FND002 Fundus Dystrophy RDH12 NM_152443.3(RDH12):c.848+2T>C SNV Uncertain significance 236431 rs878853338 14:68196099-68196099 14:67729382-67729382 FND002 Fundus Dystrophy RDH12 NM_152443.3(RDH12):c.910T>C (p.Trp304Arg) SNV Uncertain significance 236432 rs878853339 14:68200524-68200524 14:67733807-67733807 FND002 Fundus Dystrophy NRL NM_006177.5(NRL):c.586_627dup (p.Ala196_Ala209dup) duplication Uncertain significance 236457 rs878853356 14:24550531-24550532 14:24081322-24081323 FND002 Fundus Dystrophy RDH12 NM_152443.3(RDH12):c.383T>G (p.Val128Gly) SNV Uncertain significance 236433 rs878853340 14:68192807-68192807 14:67726090-67726090 FND002 Fundus Dystrophy FZD4 NM_012193.4(FZD4):c.961G>A (p.Val321Ile) SNV Uncertain significance 236437 rs878853344 11:86662837-86662837 11:86951795-86951795 FND002 Fundus Dystrophy RDH5 NM_001199771.2(RDH5):c.536A>G (p.Lys179Arg) SNV Uncertain significance 236445 rs781112960 12:56115698-56115698 12:55721914-55721914 FND002 Fundus Dystrophy WHRN NM_015404.4(WHRN):c.1808G>T (p.Gly603Val) SNV Uncertain significance 236546 rs368141295 9:117169063-117169063 9:114406783-114406783 FND002 Fundus Dystrophy PCDH15 NM_033056.4(PCDH15):c.5565C>A (p.Ala1855=) SNV Uncertain significance 236520 rs111033445 10:55581921-55581921 10:53822161-53822161 FND002 Fundus Dystrophy PCDH15 NM_033056.4(PCDH15):c.5364_5373del (p.Pro1789fs) deletion Uncertain significance 236519 rs753690225 10:55582113-55582122 10:53822353-53822362 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.297+1G>T SNV Uncertain significance 236464 rs878853360 12:88532921-88532921 12:88139144-88139144 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.148C>T (p.His50Tyr) SNV Uncertain significance 236469 rs878853363 12:88534765-88534765 12:88140988-88140988 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.1141+5G>C SNV Uncertain significance 236526 rs878853402 4:16014893-16014893 4:16013270-16013270 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.1141+1G>A SNV Uncertain significance 236523 rs878853401 4:16014897-16014897 4:16013274-16013274 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.694+4A>T SNV Uncertain significance 236528 rs375952708 4:16025914-16025914 4:16024291-16024291 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.694+1G>A SNV Uncertain significance 236521 rs878853399 4:16025917-16025917 4:16024294-16024294 FND002 Fundus Dystrophy CNGA1 NM_001142564.1(CNGA1):c.1754T>G (p.Met585Arg) SNV Uncertain significance 236444 rs761947277 4:47938964-47938964 4:47936947-47936947 FND002 Fundus Dystrophy CNGA1 NM_001142564.1(CNGA1):c.848A>T (p.Asp283Val) SNV Uncertain significance 236442 rs775886085 4:47942803-47942803 4:47940786-47940786 FND002 Fundus Dystrophy PDE6A NM_000440.3(PDE6A):c.2119C>T (p.Arg707Trp) SNV Uncertain significance 236449 rs142092713 5:149263008-149263008 5:149883445-149883445 FND002 Fundus Dystrophy PDE6A NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr) SNV Uncertain significance 236450 rs147010346 5:149323870-149323870 5:149944307-149944307 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.1632G>T (p.Gly544=) SNV Uncertain significance 236524 rs753308387 4:16000058-16000058 4:15998435-15998435 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.539T>G (p.Phe180Cys) SNV Uncertain significance 236412 rs557432569 8:55534065-55534065 8:54621505-54621505 FND002 Fundus Dystrophy PDE6C NM_006204.4(PDE6C):c.1892A>G (p.Glu631Gly) SNV Uncertain significance 236438 rs878853345 10:95405761-95405761 10:93646004-93646004 FND002 Fundus Dystrophy PDE6C NM_006204.4(PDE6C):c.1894A>T (p.Arg632Trp) SNV Uncertain significance 236439 rs878853346 10:95405763-95405763 10:93646006-93646006 FND002 Fundus Dystrophy USH1C NM_153676.4(USH1C):c.1210+5G>A SNV Uncertain significance 236494 rs372285784 11:17542412-17542412 11:17520865-17520865 FND002 Fundus Dystrophy LRP5 NM_002335.4(LRP5):c.121C>T (p.Arg41Trp) SNV Uncertain significance 236428 rs745454417 11:68115344-68115344 11:68347876-68347876 FND002 Fundus Dystrophy LRP5 NM_002335.4(LRP5):c.1034T>A (p.Leu345Gln) SNV Uncertain significance 236427 rs878853336 11:68153802-68153802 11:68386334-68386334 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.1135G>A (p.Gly379Arg) SNV Uncertain significance 236486 rs878853377 11:76871263-76871263 11:77160217-77160217 FND002 Fundus Dystrophy OTX2 NM_021728.4(OTX2):c.380G>C (p.Arg127Pro) SNV Uncertain significance 313419 rs199799627 14:57268967-57268967 14:56802249-56802249 FND002 Fundus Dystrophy OTX2 NM_021728.4(OTX2):c.*648C>G SNV Uncertain significance 313411 rs886050556 14:57267805-57267805 14:56801087-56801087 FND002 Fundus Dystrophy OTX2 NM_021728.4(OTX2):c.270G>T (p.Val90=) SNV Uncertain significance 313421 rs747916036 14:57270909-57270909 14:56804191-56804191 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.2822G>T (p.Gly941Val) SNV Uncertain significance 357723 rs749101387 6:65612030-65612030 6:64902137-64902137 FND002 Fundus Dystrophy OTX2 NM_021728.4(OTX2):c.*933C>T SNV Uncertain significance 313408 rs886050555 14:57267520-57267520 14:56800802-56800802 FND002 Fundus Dystrophy OTX2 NM_021728.4(OTX2):c.*647A>G SNV Uncertain significance 313412 rs886050557 14:57267806-57267806 14:56801088-56801088 FND002 Fundus Dystrophy IFT140 NM_014714.4(IFT140):c.22C>G (p.Gln8Glu) SNV Uncertain significance 318220 rs145267929 16:1657246-1657246 16:1607245-1607245 FND002 Fundus Dystrophy CNGB1 NM_001297.5(CNGB1):c.1631C>T (p.Pro544Leu) SNV Uncertain significance 320091 rs145234666 16:57957189-57957189 16:57923285-57923285 FND002 Fundus Dystrophy AIPL1 NM_014336.5(AIPL1):c.377T>A (p.Met126Lys) SNV Uncertain significance 324620 rs761622978 17:6331726-6331726 17:6428406-6428406 FND002 Fundus Dystrophy RP1L1 NM_178857.6(RP1L1):c.2845C>T (p.Pro949Ser) SNV Uncertain significance 361332 rs754126350 8:10468763-10468763 8:10611253-10611253 FND002 Fundus Dystrophy OTX2 NM_021728.4(OTX2):c.*566_*567GT[3] short repeat Uncertain significance 313413 rs886050558 14:57267880-57267881 14:56801162-56801163 FND002 Fundus Dystrophy OTX2 NM_021728.4(OTX2):c.273+11T>C SNV Uncertain significance 313420 rs371958059 14:57270895-57270895 14:56804177-56804177 FND002 Fundus Dystrophy OTX2 NM_021728.4(OTX2):c.-119-24TTTG[2] short repeat Uncertain significance 313423 rs886050560 14:57272306-57272309 14:56805588-56805591 FND002 Fundus Dystrophy PCDH15 NM_033056.4(PCDH15):c.4202+5G>A SNV Uncertain significance 300178 rs886047063 10:55591070-55591070 10:53831310-53831310 FND002 Fundus Dystrophy CDHR1 NM_033100.4(CDHR1):c.700G>A (p.Val234Ile) SNV Uncertain significance 301222 rs148356887 10:85962796-85962796 10:84203040-84203040 FND002 Fundus Dystrophy OTX2 NM_021728.4(OTX2):c.-119-101C>T SNV Uncertain significance 369074 rs534764707 14:57272394-57272394 14:56805676-56805676 FND002 Fundus Dystrophy IFT172 NM_015662.3(IFT172):c.831G>C (p.Glu277Asp) SNV Uncertain significance 373496 rs150938554 2:27702971-27702971 2:27480104-27480104 FND002 Fundus Dystrophy OTX2 NM_021728.4(OTX2):c.-119-65G>T SNV Uncertain significance 313424 rs886050561 14:57272358-57272358 14:56805640-56805640 FND002 Fundus Dystrophy IFT140 NM_014714.4(IFT140):c.925G>A (p.Glu309Lys) SNV Uncertain significance 318198 rs141993646 16:1637283-1637283 16:1587282-1587282 FND002 Fundus Dystrophy LRAT NM_004744.5(LRAT):c.*3459dup duplication Uncertain significance 347884 rs369562633 4:155673737-155673738 4:154752585-154752586 FND002 Fundus Dystrophy LRAT NM_004744.5(LRAT):c.*3958G>A SNV Uncertain significance 347891 rs886059179 4:155674246-155674246 4:154753094-154753094 FND002 Fundus Dystrophy LRAT NM_004744.5(LRAT):c.244A>G (p.Thr82Ala) SNV Uncertain significance 347849 rs747900628 4:155665722-155665722 4:154744570-154744570 FND002 Fundus Dystrophy LRAT NM_004744.5(LRAT):c.*313del deletion Uncertain significance 347855 rs146990234 4:155670593-155670593 4:154749441-154749441 FND002 Fundus Dystrophy LRAT NM_004744.5(LRAT):c.*826C>T SNV Uncertain significance 347862 rs778612442 4:155671114-155671114 4:154749962-154749962 FND002 Fundus Dystrophy LRAT NM_004744.5(LRAT):c.*3435A>C SNV Uncertain significance 347883 rs886059176 4:155673723-155673723 4:154752571-154752571 FND002 Fundus Dystrophy LRAT NM_004744.5(LRAT):c.-84C>T SNV Uncertain significance 347846 rs886059160 4:155665292-155665292 4:154744140-154744140 FND002 Fundus Dystrophy LRAT NM_004744.5(LRAT):c.*106T>C SNV Uncertain significance 347853 rs189439579 4:155670394-155670394 4:154749242-154749242 FND002 Fundus Dystrophy LRAT NM_004744.5(LRAT):c.*632T>C SNV Uncertain significance 347858 rs886059166 4:155670920-155670920 4:154749768-154749768 FND002 Fundus Dystrophy LRAT NM_004744.5(LRAT):c.*671A>G SNV Uncertain significance 347860 rs886059167 4:155670959-155670959 4:154749807-154749807 FND002 Fundus Dystrophy CACNA1F NM_001256789.3(CACNA1F):c.2776C>T (p.Arg926Cys) SNV Uncertain significance 287248 rs886044865 X:49075152-49075152 X:49218693-49218693 FND002 Fundus Dystrophy PDE6A NM_000440.3(PDE6A):c.1745G>A (p.Arg582His) SNV Uncertain significance 351986 rs77760924 5:149265921-149265921 5:149886358-149886358 FND002 Fundus Dystrophy LRAT NM_004744.5(LRAT):c.*1155T>A SNV Uncertain significance 347863 rs72683214 4:155671443-155671443 4:154750291-154750291 FND002 Fundus Dystrophy PEX6 NM_000287.4(PEX6):c.295C>T (p.Arg99Trp) SNV Uncertain significance 356806 rs772383329 6:42946594-42946594 6:42978856-42978856 FND002 Fundus Dystrophy LRAT NM_004744.5(LRAT):c.*2396C>G SNV Uncertain significance 347871 rs867110135 4:155672684-155672684 4:154751532-154751532 FND002 Fundus Dystrophy LRAT NM_004744.5(LRAT):c.*2741_*2743dup duplication Uncertain significance 347880 rs528370871 4:155673028-155673029 4:154751876-154751877 FND002 Fundus Dystrophy LRAT NM_004744.5(LRAT):c.*3654T>C SNV Uncertain significance 347886 rs191784588 4:155673942-155673942 4:154752790-154752790 FND002 Fundus Dystrophy LRAT NM_004744.5(LRAT):c.*3770A>G SNV Uncertain significance 347889 rs886059178 4:155674058-155674058 4:154752906-154752906 FND002 Fundus Dystrophy LRAT NM_004744.5(LRAT):c.*3980T>C SNV Uncertain significance 347893 rs191125324 4:155674268-155674268 4:154753116-154753116 FND002 Fundus Dystrophy LRAT NM_004744.5(LRAT):c.*2477_*2479del deletion Uncertain significance 347876 rs769393659 4:155672763-155672765 4:154751611-154751613 FND002 Fundus Dystrophy LRAT NM_004744.5(LRAT):c.*2968C>G SNV Uncertain significance 347881 rs886059175 4:155673256-155673256 4:154752104-154752104 FND002 Fundus Dystrophy LRAT NM_004744.5(LRAT):c.*3729del deletion Uncertain significance 347888 rs886059177 4:155674010-155674010 4:154752858-154752858 FND002 Fundus Dystrophy LRAT NM_004744.5(LRAT):c.*3978C>T SNV Uncertain significance 347892 rs886059180 4:155674266-155674266 4:154753114-154753114 FND002 Fundus Dystrophy WDR19 NM_025132.4(WDR19):c.3283T>C (p.Leu1095=) SNV Uncertain significance 348748 rs769329045 4:39269636-39269636 4:39268016-39268016 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.185C>T (p.Pro62Leu) SNV Uncertain significance 377400 rs1057520211 1:94577111-94577111 1:94111555-94111555 FND002 Fundus Dystrophy FLVCR1 NM_014053.4(FLVCR1):c.133G>A (p.Gly45Ser) SNV Uncertain significance 391253 rs532977695 1:213031927-213031927 1:212858585-212858585 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.12415G>C (p.Gly4139Arg) SNV Uncertain significance 393047 rs138866017 1:215848838-215848838 1:215675496-215675496 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6453G>T (p.Met2151Ile) SNV Uncertain significance 374182 rs1057518954 1:94466418-94466418 1:94000862-94000862 FND002 Fundus Dystrophy PDE6B NM_000283.3(PDE6B):c.1553A>T (p.Lys518Ile) SNV Uncertain significance 424485 rs369561957 4:654341-654341 4:660552-660552 FND002 Fundus Dystrophy ZFYVE26 NM_015346.4(ZFYVE26):c.7231C>T (p.Arg2411Cys) SNV Uncertain significance 406177 rs375202089 14:68219201-68219201 14:67752484-67752484 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.12419G>T (p.Cys4140Phe) SNV Uncertain significance 424931 rs1064797131 1:215848834-215848834 1:215675492-215675492 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.11594C>A (p.Ala3865Glu) SNV Uncertain significance 424932 rs1064797132 1:215914834-215914834 1:215741492-215741492 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.5375C>G (p.Ala1792Gly) SNV Uncertain significance 426622 rs780301238 8:55541817-55541817 8:54629257-54629257 FND002 Fundus Dystrophy RAX2 NM_032753.4(RAX2):c.175G>A (p.Glu59Lys) SNV Uncertain significance 426594 rs1085307700 19:3771566-3771566 19:3771568-3771568 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.299T>C (p.Leu100Pro) SNV Uncertain significance 425491 rs1064797366 X:38180291-38180291 X:38321038-38321038 FND002 Fundus Dystrophy ADGRA3 NM_145290.4(ADGRA3):c.1659G>A (p.Thr553=) SNV Uncertain significance 427870 rs780809068 4:22422659-22422659 4:22421036-22421036 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.9661G>A (p.Val3221Met) SNV Uncertain significance 430541 rs368092861 5:90016789-90016789 5:90720972-90720972 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.2842+5G>A SNV Uncertain significance 438078 rs773914330 1:197398749-197398749 1:197429619-197429619 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His) SNV Uncertain significance 438086 rs61748548 1:94546115-94546115 1:94080559-94080559 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.4027A>C (p.Asn1343His) SNV Uncertain significance 438020 rs754634823 1:216371711-216371711 1:216198369-216198369 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.2705G>A (p.Cys902Tyr) SNV Uncertain significance 438017 rs780846352 1:216420031-216420031 1:216246689-216246689 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.4618G>A (p.Asp1540Asn) SNV Uncertain significance 438022 rs752238803 1:216348603-216348603 1:216175261-216175261 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.1002+5G>A SNV Uncertain significance 438212 rs1196489060 4:16019941-16019941 4:16018318-16018318 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.2000G>A (p.Arg667His) SNV Uncertain significance 438193 rs549456693 6:66005779-66005779 6:65295886-65295886 FND002 Fundus Dystrophy GUCY2D NM_000180.4(GUCY2D):c.901_908del (p.Leu301fs) deletion Uncertain significance 437981 rs1555634713 17:7907346-7907353 17:8004028-8004035 FND002 Fundus Dystrophy CLN3 NM_000086.2(CLN3):c.853A>G (p.Ile285Val) SNV Uncertain significance 438225 rs748844685 16:28493851-28493851 16:28482530-28482530 FND002 Fundus Dystrophy BBS12 NM_152618.3(BBS12):c.1237C>G (p.Leu413Val) SNV Uncertain significance 444641 rs758217005 4:123664284-123664284 4:122743129-122743129 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.736A>G (p.Ile246Val) SNV Uncertain significance 451003 rs746975879 1:216538343-216538343 1:216365001-216365001 FND002 Fundus Dystrophy SNRNP200 NM_014014.5(SNRNP200):c.841G>A (p.Val281Met) SNV Uncertain significance 450579 rs866936431 2:96964594-96964594 2:96298856-96298856 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.4564G>A (p.Gly1522Ser) SNV Uncertain significance 450895 rs762338185 8:55541006-55541006 8:54628446-54628446 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5560G>T (p.Val1854Leu) SNV Uncertain significance 493043 rs374687000 1:94476842-94476842 1:94011286-94011286 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2036A>T (p.Glu679Val) SNV Uncertain significance 493045 rs1553192420 1:94526217-94526217 1:94060661-94060661 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.769-3C>T SNV Uncertain significance 497258 rs368010652 1:94549000-94549000 1:94083444-94083444 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.10873C>G (p.Leu3625Val) SNV Uncertain significance 505145 rs761066341 5:90041511-90041511 5:90745694-90745694 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.614T>C (p.Ile205Thr) SNV Uncertain significance 504644 rs200241993 11:76867929-76867929 11:77156883-77156883 FND002 Fundus Dystrophy PCARE NM_001029883.3(PCARE):c.2083G>A (p.Glu695Lys) SNV Uncertain significance 498540 rs769814461 2:29295045-29295045 2:29072179-29072179 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.8576G>A (p.Arg2859His) SNV Uncertain significance 505244 rs778272177 1:216051205-216051205 1:215877863-215877863 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4715C>T (p.Thr1572Met) SNV Uncertain significance 497936 rs185093512 1:94487460-94487460 1:94021904-94021904 FND002 Fundus Dystrophy NPHP4 NM_015102.5(NPHP4):c.3364A>C (p.Thr1122Pro) SNV Uncertain significance 501425 rs375836844 1:5927908-5927908 1:5867848-5867848 FND002 Fundus Dystrophy IFT140 NM_014714.4(IFT140):c.2797G>A (p.Glu933Lys) SNV Uncertain significance 533864 rs1259402740 16:1575299-1575299 16:1525298-1525298 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly) SNV Uncertain significance 523415 rs1554163965 6:64431408-64431408 6:63721512-63721512 FND002 Fundus Dystrophy FLVCR1 NM_014053.4(FLVCR1):c.7C>T (p.Arg3Trp) SNV Uncertain significance 521374 rs998058913 1:213031801-213031801 1:212858459-212858459 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.10852G>A (p.Gly3618Ser) SNV Uncertain significance 553008 rs778158900 1:215953272-215953272 1:215779930-215779930 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.13778C>T (p.Ser4593Leu) SNV Uncertain significance 550628 rs1202573136 1:215847475-215847475 1:215674133-215674133 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.6902T>C (p.Leu2301Ser) SNV Uncertain significance 554116 rs759494205 1:216144022-216144022 1:215970680-215970680 FND002 Fundus Dystrophy USH2A NM_007123.5(USH2A):c.1516_1518TAT[1] (p.Tyr507del) short repeat Uncertain significance 551525 rs1553250595 1:216496845-216496847 1:216323503-216323505 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.1390C>T (p.Arg464Cys) SNV Uncertain significance 551303 rs1423536179 1:216496976-216496976 1:216323634-216323634 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.1481A>G (p.Tyr494Cys) SNV Uncertain significance 555113 rs898430789 1:216496885-216496885 1:216323543-216323543 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.997T>C (p.Ser333Pro) SNV Uncertain significance 550610 rs368986242 1:216498793-216498793 1:216325451-216325451 FND002 Fundus Dystrophy BBS12 NM_152618.3(BBS12):c.860_862AAG[1] (p.Glu288del) short repeat Uncertain significance 551644 rs745504524 4:123663905-123663907 4:122742750-122742752 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.13339A>G (p.Met4447Val) SNV Uncertain significance 554155 rs139474806 1:215847914-215847914 1:215674572-215674572 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.13217T>C (p.Leu4406Pro) SNV Uncertain significance 556334 rs745693690 1:215848036-215848036 1:215674694-215674694 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.7871C>T (p.Pro2624Leu) SNV Uncertain significance 555391 rs748455430 1:216062120-216062120 1:215888778-215888778 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.4810G>A (p.Asp1604Asn) SNV Uncertain significance 550640 rs775241651 1:216262430-216262430 1:216089088-216089088 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.4616C>T (p.Thr1539Ile) SNV Uncertain significance 550482 rs758095361 1:216348605-216348605 1:216175263-216175263 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys) deletion Uncertain significance 556843 rs752992414 1:216251560-216251565 1:216078218-216078223 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.1550G>C (p.Arg517Thr) SNV Uncertain significance 552769 rs1393503590 1:216496816-216496816 1:216323474-216323474 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.2653C>T (p.His885Tyr) SNV Uncertain significance 550419 rs746071929 1:216420083-216420083 1:216246741-216246741 FND002 Fundus Dystrophy USH2A NM_007123.5(USH2A):c.2309_2311AAG[1] (p.Glu771del) short repeat Uncertain significance 557761 rs1553320519 1:216420422-216420424 1:216247080-216247082 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.1961T>C (p.Leu654Pro) SNV Uncertain significance 559526 rs1321779316 1:216462632-216462632 1:216289290-216289290 FND002 Fundus Dystrophy CDH3 NM_001793.6(CDH3):c.335C>T (p.Ala112Val) SNV Uncertain significance 560435 rs1567447671 16:68712125-68712125 16:68678222-68678222 FND002 Fundus Dystrophy RAX2 NM_032753.4(RAX2):c.275C>T (p.Ser92Leu) SNV Uncertain significance 599132 rs754730849 19:3770899-3770899 19:3770901-3770901 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.4016T>G (p.Val1339Gly) SNV Uncertain significance 597787 rs781668118 1:216371722-216371722 1:216198380-216198380 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.1140C>T (p.Phe380=) SNV Uncertain significance 623966 rs1411083098 19:54631746-54631746 19:54128371-54128371 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.3997G>A (p.Glu1333Lys) SNV Uncertain significance 632096 rs137853136 1:197411414-197411414 1:197442284-197442284 FND002 Fundus Dystrophy ROM1 NM_000327.3(ROM1):c.629A>T (p.Asp210Val) SNV Uncertain significance 636087 11:62381768-62381768 11:62614296-62614296 FND002 Fundus Dystrophy PDE6B NM_000283.3(PDE6B):c.1833-3C>G SNV Uncertain significance 636059 4:656886-656886 4:663097-663097 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1240-8G>A SNV Uncertain significance 636211 1:94544270-94544270 1:94078714-94078714 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.1073+5G>A SNV Uncertain significance 636224 19:54631580-54631580 19:54128205-54128205 FND002 Fundus Dystrophy CTNNA1 NM_001903.5(CTNNA1):c.58A>T (p.Ile20Phe) SNV Uncertain significance 665290 5:138117671-138117671 5:138781982-138781982 FND002 Fundus Dystrophy CTNNA1 NM_001903.5(CTNNA1):c.259_261del (p.Lys87del) deletion Uncertain significance 651349 5:138119019-138119021 5:138783330-138783332 FND002 Fundus Dystrophy CTNNA1 NM_001903.5(CTNNA1):c.704C>T (p.Ala235Val) SNV Uncertain significance 654475 5:138160334-138160334 5:138824645-138824645 FND002 Fundus Dystrophy CTNNA1 NM_001903.5(CTNNA1):c.2023C>T (p.Gln675Ter) SNV Uncertain significance 640852 5:138266174-138266174 5:138930485-138930485 FND002 Fundus Dystrophy CA4 NM_000717.5(CA4):c.686G>A (p.Cys229Tyr) SNV Uncertain significance 636156 17:58235749-58235749 17:60158388-60158388 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.373C>G (p.Leu125Val) SNV Uncertain significance 636189 19:54625926-54625926 19:54122547-54122547 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.2060G>T (p.Arg687Leu) SNV Uncertain significance 636180 2:112767624-112767624 2:112010047-112010047 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.2305A>G (p.Ile769Val) SNV Uncertain significance 636220 2:112779114-112779114 2:112021537-112021537 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.15380C>T (p.Pro5127Leu) SNV Uncertain significance 801608 1:215802295-215802295 1:215628953-215628953 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.223A>G (p.Lys75Glu) SNV Uncertain significance 802880 12:88533299-88533299 12:88139522-88139522 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.13430A>G (p.Tyr4477Cys) SNV Uncertain significance 667358 1:215847823-215847823 1:215674481-215674481 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.7387G>A (p.Ala2463Thr) SNV Uncertain significance 667031 1:216074161-216074161 1:215900819-215900819 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.5504C>T (p.Ser1835Leu) SNV Uncertain significance 667359 1:216251499-216251499 1:216078157-216078157 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.13484G>A (p.Arg4495His) SNV Uncertain significance 806349 1:215847769-215847769 1:215674427-215674427 FND002 Fundus Dystrophy RDH12 NM_152443.3(RDH12):c.440A>C (p.Asn147Thr) SNV Uncertain significance 805925 14:68192864-68192864 14:67726147-67726147 FND002 Fundus Dystrophy RP2 NM_006915.3(RP2):c.884-14G>A SNV Uncertain significance 803988 X:46736926-46736926 X:46877491-46877491 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.1840G>A (p.Gly614Arg) SNV Uncertain significance 812461 1:216465517-216465517 1:216292175-216292175 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5822A>C (p.His1941Pro) SNV Uncertain significance 812196 1:94474320-94474320 1:94008764-94008764 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4854G>C (p.Trp1618Cys) SNV Uncertain significance 812203 1:94486960-94486960 1:94021404-94021404 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.7811G>A (p.Arg2604His) SNV Uncertain significance 809963 6:64487986-64487986 6:63778093-63778093 FND002 Fundus Dystrophy PRPF8 NM_006445.4(PRPF8):c.6821C>T (p.Pro2274Leu) SNV Uncertain significance 808180 17:1554434-1554434 17:1651140-1651140 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.2989G>A (p.Ala997Thr) SNV Uncertain significance 842719 3:100961565-100961565 3:101242721-101242721 FND002 Fundus Dystrophy PCARE NM_001029883.3(PCARE):c.8G>A (p.Cys3Tyr) SNV Uncertain significance 854244 2:29297120-29297120 2:29074254-29074254 FND002 Fundus Dystrophy FAM161A NM_001201543.2(FAM161A):c.2065G>T (p.Asp689Tyr) SNV Uncertain significance 862611 2:62053676-62053676 2:61826541-61826541 FND002 Fundus Dystrophy SNRNP200 NM_014014.5(SNRNP200):c.1792C>T (p.Arg598Cys) SNV Uncertain significance 839536 2:96961276-96961276 2:96295538-96295538 FND002 Fundus Dystrophy AGBL5 NM_021831.6(AGBL5):c.1754G>A (p.Ser585Asn) SNV Uncertain significance 855712 2:27281350-27281350 2:27058482-27058482 FND002 Fundus Dystrophy AGBL5 NM_021831.6(AGBL5):c.2108G>A (p.Arg703Lys) SNV Uncertain significance 855713 2:27290380-27290380 2:27067512-27067512 FND002 Fundus Dystrophy IFT172 NM_015662.3(IFT172):c.4180C>G (p.Gln1394Glu) SNV Uncertain significance 854218 2:27672410-27672410 2:27449543-27449543 FND002 Fundus Dystrophy IFT172 NM_015662.3(IFT172):c.3778C>G (p.Leu1260Val) SNV Uncertain significance 854217 2:27676540-27676540 2:27453673-27453673 FND002 Fundus Dystrophy CERKL NM_201548.5(CERKL):c.1315C>T (p.Arg439Trp) SNV Uncertain significance 855128 2:182409477-182409477 2:181544750-181544750 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.156T>G (p.His52Gln) SNV Uncertain significance 841821 1:94578533-94578533 1:94112977-94112977 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6250G>A (p.Ala2084Thr) SNV Uncertain significance 855992 1:94467446-94467446 1:94001890-94001890 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5992G>A (p.Val1998Ile) SNV Uncertain significance 835388 1:94473203-94473203 1:94007647-94007647 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3449G>A (p.Cys1150Tyr) SNV Uncertain significance 839622 1:94506838-94506838 1:94041282-94041282 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.3375T>G (p.Ile1125Met) SNV Uncertain significance 840677 1:216373405-216373405 1:216200063-216200063 FND002 Fundus Dystrophy NPHP4 NM_015102.5(NPHP4):c.3704G>A (p.Arg1235His) SNV Uncertain significance 835062 1:5925274-5925274 1:5865214-5865214 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1745A>G (p.Asn582Ser) SNV Uncertain significance 861202 1:94528683-94528683 1:94063127-94063127 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.667A>C (p.Lys223Gln) SNV Uncertain significance 845426 1:94564451-94564451 1:94098895-94098895 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.2159T>C (p.Leu720Pro) SNV Uncertain significance 846255 2:112777069-112777069 2:112019492-112019492 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.2362G>A (p.Val788Met) SNV Uncertain significance 837266 2:112779847-112779847 2:112022270-112022270 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.2612T>C (p.Ile871Thr) SNV Uncertain significance 843961 2:112786053-112786053 2:112028476-112028476 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.2068T>A (p.Cys690Ser) SNV Uncertain significance 811665 6:65767576-65767576 6:65057683-65057683 FND002 Fundus Dystrophy CNGB1 NM_001297.5(CNGB1):c.2629G>A (p.Gly877Arg) SNV Uncertain significance 812284 16:57938643-57938643 16:57904739-57904739 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.501+5G>A SNV Uncertain significance 813054 3:101022985-101022985 3:101304141-101304141 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.1032G>C (p.Gln344His) SNV Uncertain significance 813212 3:129252546-129252546 3:129533703-129533703 FND002 Fundus Dystrophy BBS4 NM_033028.5(BBS4):c.1107-10_1107-7del short repeat Uncertain significance 813022 15:73028152-73028155 15:72735811-72735814 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.12701C>T (p.Thr4234Met) SNV Uncertain significance 850897 1:215848552-215848552 1:215675210-215675210 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.15029A>T (p.Gln5010Leu) SNV Uncertain significance 857774 1:215812520-215812520 1:215639178-215639178 FND002 Fundus Dystrophy RDH12 NM_152443.3(RDH12):c.749T>C (p.Leu250Pro) SNV Uncertain significance 844175 14:68195998-68195998 14:67729281-67729281 FND002 Fundus Dystrophy RDH12 NM_152443.3(RDH12):c.794G>C (p.Ser265Thr) SNV Uncertain significance 836061 14:68196043-68196043 14:67729326-67729326 FND002 Fundus Dystrophy IFT140 NM_014714.4(IFT140):c.1487C>T (p.Thr496Met) SNV Uncertain significance 850163 16:1630797-1630797 16:1580796-1580796 FND002 Fundus Dystrophy CNGB1 NM_001297.5(CNGB1):c.3286G>A (p.Val1096Met) SNV Uncertain significance 852740 16:57921935-57921935 16:57888031-57888031 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.4040G>A (p.Arg1347His) SNV Uncertain significance 836136 11:76903211-76903211 11:77192166-77192166 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.8834G>A (p.Gly2945Glu) SNV Uncertain significance 836062 6:64431093-64431093 6:63721197-63721197 FND002 Fundus Dystrophy CNGB3 NM_019098.4(CNGB3):c.503C>T (p.Thr168Met) SNV Uncertain significance 864589 8:87680387-87680387 8:86668159-86668159 FND002 Fundus Dystrophy PRPF4 NM_001244926.2(PRPF4):c.965C>T (p.Thr322Ile) SNV Uncertain significance 843876 9:116050487-116050487 9:113288207-113288207 FND002 Fundus Dystrophy RBP3 NM_002900.3(RBP3):c.2156C>T (p.Ala719Val) SNV Uncertain significance 852630 10:48388722-48388722 10:47350640-47350640 FND002 Fundus Dystrophy PDE6A NM_000440.3(PDE6A):c.1534C>T (p.Pro512Ser) SNV Uncertain significance 842898 5:149276005-149276005 5:149896442-149896442 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.5784C>G (p.Ser1928Arg) SNV Uncertain significance 853336 5:89979522-89979522 5:90683705-90683705 FND002 Fundus Dystrophy PDE6B NM_001145292.1(PDE6B):c.-26A>G SNV Uncertain significance 859226 4:647741-647741 4:653952-653952 FND002 Fundus Dystrophy GUCA1A NM_000409.5(GUCA1A):c.205G>C (p.Gly69Arg) SNV Uncertain significance 841637 6:42146021-42146021 6:42178283-42178283 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.1011_1014dup (p.Ala339fs) duplication Uncertain significance 842434 6:42666059-42666060 6:42698321-42698322 FND002 Fundus Dystrophy AHI1 NM_001134831.2(AHI1):c.1013T>G (p.Leu338Trp) SNV Uncertain significance 857917 6:135778770-135778770 6:135457632-135457632 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.2596T>C (p.Cys866Arg) SNV Uncertain significance 844397 6:65622422-65622422 6:64912529-64912529 FND002 Fundus Dystrophy RIMS1 NM_014989.5(RIMS1):c.1088G>T (p.Arg363Leu) SNV Uncertain significance 851145 6:72892262-72892262 6:72182559-72182559 FND002 Fundus Dystrophy CEP250 NM_007186.6(CEP250):c.1826C>T (p.Ala609Val) SNV Uncertain significance 859101 20:34064383-34064383 20:35476558-35476558 FND002 Fundus Dystrophy CFAP410 NM_004928.3(CFAP410):c.209G>A (p.Arg70Gln) SNV Uncertain significance 858756 21:45753080-45753080 21:44333197-44333197 FND002 Fundus Dystrophy CACNA2D4 NM_172364.5(CACNA2D4):c.911G>A (p.Gly304Glu) SNV Uncertain significance 854020 12:1995471-1995471 12:1886305-1886305 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.1543+5G>C SNV Uncertain significance 849261 3:100964641-100964641 3:101245797-101245797 FND002 Fundus Dystrophy CTNNA1 NM_001903.5(CTNNA1):c.1389+6G>A SNV Uncertain significance 840077 5:138240136-138240136 5:138904447-138904447 FND002 Fundus Dystrophy CHM NM_000390.4(CHM):c.776A>G (p.Asn259Ser) SNV Uncertain significance 849044 X:85213909-85213909 X:85958904-85958904 FND002 Fundus Dystrophy DRAM2 NM_178454.5(DRAM2):c.89C>T (p.Ala30Val) SNV Uncertain significance 866523 1:111674088-111674088 1:111131466-111131466 FND002 Fundus Dystrophy PRPF3 NM_004698.4(PRPF3):c.1022G>A (p.Arg341Gln) SNV Uncertain significance 866310 1:150307699-150307699 1:150335228-150335228 FND002 Fundus Dystrophy PRPF3 NM_004698.4(PRPF3):c.1151T>C (p.Ile384Thr) SNV Uncertain significance 866704 1:150310751-150310751 1:150338275-150338275 FND002 Fundus Dystrophy PRPF3 NM_004698.4(PRPF3):c.1304C>G (p.Thr435Ser) SNV Uncertain significance 865919 1:150315806-150315806 1:150343330-150343330 FND002 Fundus Dystrophy PRPF3 NM_004698.4(PRPF3):c.1562_1564CAG[1] (p.Ala522del) short repeat Uncertain significance 866740 1:150316945-150316947 1:150344469-150344471 FND002 Fundus Dystrophy PRPF3 NM_004698.4(PRPF3):c.1649A>G (p.Asn550Ser) SNV Uncertain significance 866326 1:150318502-150318502 1:150346026-150346026 FND002 Fundus Dystrophy PRPF3 NM_004698.4(PRPF3):c.1922G>A (p.Arg641Gln) SNV Uncertain significance 866811 1:150325325-150325325 1:150352849-150352849 FND002 Fundus Dystrophy PDE6B NM_001145291.1(PDE6B):c.1860C>A (p.His620Gln) SNV Uncertain significance 866817 4:656916-656916 4:663127-663127 FND002 Fundus Dystrophy PDE6B NM_001145291.1(PDE6B):c.1226C>G (p.Pro409Arg) SNV Uncertain significance 866661 4:650781-650781 4:656992-656992 FND002 Fundus Dystrophy PDE6B NM_001145291.1(PDE6B):c.1429C>A (p.Pro477Thr) SNV Uncertain significance 866719 4:652768-652768 4:658979-658979 FND002 Fundus Dystrophy PDE6B NM_001145291.1(PDE6B):c.1712C>T (p.Thr571Met) SNV Uncertain significance 866660 4:656020-656020 4:662231-662231 FND002 Fundus Dystrophy PDE6B NM_001145291.1(PDE6B):c.1810A>T (p.Thr604Ser) SNV Uncertain significance 866150 4:656385-656385 4:662596-662596 FND002 Fundus Dystrophy PDE6B NM_001145292.1(PDE6B):c.-34C>T SNV Uncertain significance 866493 4:647733-647733 4:653944-653944 FND002 Fundus Dystrophy PDE6B NM_001145291.1(PDE6B):c.694G>A (p.Glu232Lys) SNV Uncertain significance 866820 4:629741-629741 4:635952-635952 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.53T>C (p.Phe18Ser) SNV Uncertain significance 867048 4:16077477-16077477 4:16075854-16075854 FND002 Fundus Dystrophy CYP4V2 NM_207352.4(CYP4V2):c.194T>C (p.Leu65Pro) SNV Uncertain significance 866106 4:187113171-187113171 4:186192017-186192017 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.1576C>G (p.Arg526Gly) SNV Uncertain significance 866902 4:16002121-16002121 4:16000498-16000498 FND002 Fundus Dystrophy DTHD1 NM_001170700.3(DTHD1):c.2485C>A (p.Arg829Ser) SNV Uncertain significance 866534 4:36345210-36345210 4:36343588-36343588 FND002 Fundus Dystrophy DTHD1 NM_001170700.3(DTHD1):c.2635del (p.Ser879fs) deletion Uncertain significance 866271 4:36345360-36345360 4:36343738-36343738 FND002 Fundus Dystrophy WDR19 NM_025132.4(WDR19):c.302C>A (p.Ser101Tyr) SNV Uncertain significance 866918 4:39196175-39196175 4:39194555-39194555 FND002 Fundus Dystrophy WDR19 NM_025132.4(WDR19):c.1778G>T (p.Gly593Val) SNV Uncertain significance 866920 4:39230106-39230106 4:39228486-39228486 FND002 Fundus Dystrophy WDR19 NM_025132.4(WDR19):c.3851T>C (p.Met1284Thr) SNV Uncertain significance 866286 4:39279761-39279761 4:39278141-39278141 FND002 Fundus Dystrophy CNGA1 NM_001375386.1(CNGA1):c.1685C>T (p.Thr562Met) SNV Uncertain significance 866035 4:47938826-47938826 4:47936809-47936809 FND002 Fundus Dystrophy CNGA1 NM_001375386.1(CNGA1):c.1594G>A (p.Val532Ile) SNV Uncertain significance 866044 4:47938917-47938917 4:47936900-47936900 FND002 Fundus Dystrophy CNGA1 NM_001375386.1(CNGA1):c.1538G>A (p.Gly513Glu) SNV Uncertain significance 866020 4:47938973-47938973 4:47936956-47936956 FND002 Fundus Dystrophy CNGA1 NM_001375386.1(CNGA1):c.1511A>G (p.Asp504Gly) SNV Uncertain significance 866887 4:47939000-47939000 4:47936983-47936983 FND002 Fundus Dystrophy CNGA1 NM_001375386.1(CNGA1):c.1487A>C (p.Gln496Pro) SNV Uncertain significance 866199 4:47939024-47939024 4:47937007-47937007 FND002 Fundus Dystrophy CNGA1 NM_001375386.1(CNGA1):c.1056C>G (p.Ser352Arg) SNV Uncertain significance 866043 4:47939455-47939455 4:47937438-47937438 FND002 Fundus Dystrophy CNGA1 NM_001375386.1(CNGA1):c.838C>T (p.Arg280Cys) SNV Uncertain significance 866138 4:47939673-47939673 4:47937656-47937656 FND002 Fundus Dystrophy GRM6 NM_000843.4(GRM6):c.2624C>A (p.Ala875Asp) SNV Uncertain significance 866961 5:178408668-178408668 5:178981667-178981667 FND002 Fundus Dystrophy GRM6 NM_000843.4(GRM6):c.2240C>G (p.Ser747Trp) SNV Uncertain significance 866338 5:178410107-178410107 5:178983106-178983106 FND002 Fundus Dystrophy GRM6 NM_000843.4(GRM6):c.1405C>T (p.Arg469Trp) SNV Uncertain significance 866780 5:178413934-178413934 5:178986933-178986933 FND002 Fundus Dystrophy PDE6A NM_000440.3(PDE6A):c.2131G>A (p.Val711Ile) SNV Uncertain significance 866350 5:149262996-149262996 5:149883433-149883433 FND002 Fundus Dystrophy PDE6A NM_000440.3(PDE6A):c.1836G>A (p.Met612Ile) SNV Uncertain significance 866215 5:149265830-149265830 5:149886267-149886267 FND002 Fundus Dystrophy PDE6A NM_000440.3(PDE6A):c.1747_1752del (p.Tyr583_Phe584del) deletion Uncertain significance 866590 5:149265914-149265919 5:149886351-149886356 FND002 Fundus Dystrophy PDE6A NM_000440.3(PDE6A):c.1689C>A (p.His563Gln) SNV Uncertain significance 866352 5:149274785-149274785 5:149895222-149895222 FND002 Fundus Dystrophy PDE6A NM_000440.3(PDE6A):c.1216C>G (p.Arg406Gly) SNV Uncertain significance 866212 5:149278985-149278985 5:149899422-149899422 FND002 Fundus Dystrophy PDE6B NM_001145291.1(PDE6B):c.2152G>T (p.Asp718Tyr) SNV Uncertain significance 865898 4:658692-658692 4:664903-664903 FND002 Fundus Dystrophy PDE6B NM_001145291.1(PDE6B):c.2387T>C (p.Met796Thr) SNV Uncertain significance 866789 4:661679-661679 4:667890-667890 FND002 Fundus Dystrophy PDE6B NM_001145291.1(PDE6B):c.2429T>C (p.Leu810Pro) SNV Uncertain significance 865887 4:661721-661721 4:667932-667932 FND002 Fundus Dystrophy CTNNA1 NM_001903.5(CTNNA1):c.1220C>T (p.Ala407Val) SNV Uncertain significance 866646 5:138223255-138223255 5:138887566-138887566 FND002 Fundus Dystrophy CTNNA1 NM_001903.5(CTNNA1):c.1280C>T (p.Ala427Val) SNV Uncertain significance 866104 5:138223315-138223315 5:138887626-138887626 FND002 Fundus Dystrophy HARS1 NM_002109.6(HARS1):c.1156G>A (p.Val386Met) SNV Uncertain significance 866457 5:140056277-140056277 5:140676692-140676692 FND002 Fundus Dystrophy PDE6A NM_000440.3(PDE6A):c.2493G>C (p.Gln831His) SNV Uncertain significance 866135 5:149242695-149242695 5:149863132-149863132 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.4072T>C (p.Ser1358Pro) SNV Uncertain significance 866777 5:89949463-89949463 5:90653646-90653646 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.4880T>C (p.Phe1627Ser) SNV Uncertain significance 866366 5:89968490-89968490 5:90672673-90672673 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.5042G>C (p.Ser1681Thr) SNV Uncertain significance 866456 5:89969983-89969983 5:90674166-90674166 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.6017G>T (p.Gly2006Val) SNV Uncertain significance 867046 5:89979755-89979755 5:90683938-90683938 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.6849C>T (p.Gly2283=) SNV Uncertain significance 866073 5:89986756-89986756 5:90690939-90690939 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.7150C>G (p.Arg2384Gly) SNV Uncertain significance 865791 5:89989723-89989723 5:90693906-90693906 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.7519A>G (p.Thr2507Ala) SNV Uncertain significance 866365 5:89990092-89990092 5:90694275-90694275 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.8226T>G (p.Ile2742Met) SNV Uncertain significance 865790 5:89999552-89999552 5:90703735-90703735 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.13681T>G (p.Ser4561Ala) SNV Uncertain significance 865935 5:90083915-90083915 5:90788098-90788098 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.13772C>T (p.Thr4591Ile) SNV Uncertain significance 866190 5:90084006-90084006 5:90788189-90788189 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.14623G>A (p.Ala4875Thr) SNV Uncertain significance 866116 5:90098661-90098661 5:90802844-90802844 FND002 Fundus Dystrophy COL11A2 NM_080680.3(COL11A2):c.2708C>T (p.Pro903Leu) SNV Uncertain significance 866289 6:33141153-33141153 6:33173376-33173376 FND002 Fundus Dystrophy TULP1 NM_003322.6(TULP1):c.1581del (p.Phe528fs) deletion Uncertain significance 865996 6:35466152-35466152 6:35498375-35498375 FND002 Fundus Dystrophy TULP1 NM_003322.6(TULP1):c.1476G>C (p.Gln492His) SNV Uncertain significance 865878 6:35467777-35467777 6:35500000-35500000 FND002 Fundus Dystrophy TULP1 NM_003322.6(TULP1):c.1447G>A (p.Val483Ile) SNV Uncertain significance 866966 6:35467806-35467806 6:35500029-35500029 FND002 Fundus Dystrophy TULP1 NM_003322.6(TULP1):c.1330G>A (p.Asp444Asn) SNV Uncertain significance 866625 6:35467923-35467923 6:35500146-35500146 FND002 Fundus Dystrophy AHI1 NM_001134831.2(AHI1):c.1678C>G (p.Pro560Ala) SNV Uncertain significance 867052 6:135768247-135768247 6:135447109-135447109 FND002 Fundus Dystrophy AHI1 NM_001134831.2(AHI1):c.1483C>T (p.Arg495Cys) SNV Uncertain significance 866291 6:135769571-135769571 6:135448433-135448433 FND002 Fundus Dystrophy AHI1 NM_001134831.2(AHI1):c.1301T>C (p.Leu434Pro) SNV Uncertain significance 866095 6:135776915-135776915 6:135455777-135455777 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.18217G>A (p.Val6073Met) SNV Uncertain significance 866192 5:90368328-90368328 5:91072511-91072511 FND002 Fundus Dystrophy MAK NM_001242957.3(MAK):c.1316G>A (p.Arg439Gln) SNV Uncertain significance 866374 6:10791908-10791908 6:10791675-10791675 FND002 Fundus Dystrophy AHI1 NM_001134831.2(AHI1):c.3364C>T (p.Arg1122Ter) SNV Uncertain significance 867054 6:135639719-135639719 6:135318581-135318581 FND002 Fundus Dystrophy AHI1 NM_001134831.2(AHI1):c.2483A>C (p.Asp828Ala) SNV Uncertain significance 867068 6:135751029-135751029 6:135429891-135429891 FND002 Fundus Dystrophy VCAN NM_004385.5(VCAN):c.1960G>C (p.Glu654Gln) SNV Uncertain significance 866147 5:82816085-82816085 5:83520266-83520266 FND002 Fundus Dystrophy VCAN NM_004385.5(VCAN):c.3227C>G (p.Ser1076Cys) SNV Uncertain significance 865809 5:82817352-82817352 5:83521533-83521533 FND002 Fundus Dystrophy VCAN NM_004385.5(VCAN):c.9274C>T (p.Arg3092Cys) SNV Uncertain significance 866477 5:82841364-82841364 5:83545545-83545545 FND002 Fundus Dystrophy TULP1 NM_003322.6(TULP1):c.1016G>T (p.Gly339Val) SNV Uncertain significance 865794 6:35473614-35473614 6:35505837-35505837 FND002 Fundus Dystrophy TULP1 NM_003322.6(TULP1):c.1247G>T (p.Arg416Leu) SNV Uncertain significance 867022 6:35471412-35471412 6:35503635-35503635 FND002 Fundus Dystrophy AHI1 NM_001134831.2(AHI1):c.2132_2146del (p.Glu711_Thr715del) deletion Uncertain significance 866794 6:135754285-135754299 6:135433147-135433161 FND002 Fundus Dystrophy GUCA1A NM_000409.5(GUCA1A):c.359G>A (p.Arg120His) SNV Uncertain significance 865998 6:42146547-42146547 6:42178809-42178809 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.1013_1014insTGGAAGCCGAGGGCGCAGG (p.Ala339fs) insertion Uncertain significance 867112 6:42666060-42666061 6:42698322-42698323 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.994G>A (p.Val332Met) SNV Uncertain significance 867019 6:42666080-42666080 6:42698342-42698342 FND002 Fundus Dystrophy GUCA1A NM_000409.5(GUCA1A):c.41G>C (p.Ser14Thr) SNV Uncertain significance 866995 6:42141392-42141392 6:42173654-42173654 FND002 Fundus Dystrophy GUCA1A NM_000409.5(GUCA1A):c.212T>C (p.Ile71Thr) SNV Uncertain significance 867036 6:42146028-42146028 6:42178290-42178290 FND002 Fundus Dystrophy GUCA1A NM_000409.5(GUCA1A):c.245T>A (p.Leu82Ter) SNV Uncertain significance 866873 6:42146061-42146061 6:42178323-42178323 FND002 Fundus Dystrophy GUCA1A NM_000409.5(GUCA1A):c.262G>T (p.Val88Leu) SNV Uncertain significance 865961 6:42146078-42146078 6:42178340-42178340 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.698A>G (p.His233Arg) SNV Uncertain significance 866449 6:42672233-42672233 6:42704495-42704495 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.681C>G (p.Ile227Met) SNV Uncertain significance 866472 6:42672250-42672250 6:42704512-42704512 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.620A>G (p.Asp207Gly) SNV Uncertain significance 866397 6:42672311-42672311 6:42704573-42704573 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.610T>C (p.Tyr204His) SNV Uncertain significance 866564 6:42672321-42672321 6:42704583-42704583 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.584G>C (p.Arg195Pro) SNV Uncertain significance 866845 6:42672347-42672347 6:42704609-42704609 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.568A>G (p.Lys190Glu) SNV Uncertain significance 866791 6:42689505-42689505 6:42721767-42721767 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.863C>T (p.Thr288Met) SNV Uncertain significance 866246 6:42666211-42666211 6:42698473-42698473 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.828G>A (p.Glu276=) SNV Uncertain significance 867087 6:42672103-42672103 6:42704365-42704365 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.9392G>A (p.Gly3131Glu) SNV Uncertain significance 867058 6:64430535-64430535 6:63720639-63720639 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.464C>T (p.Thr155Ile) SNV Uncertain significance 866554 6:42689609-42689609 6:42721871-42721871 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.458A>T (p.Lys153Met) SNV Uncertain significance 865854 6:42689615-42689615 6:42721877-42721877 FND002 Fundus Dystrophy PRPH2 NM_000322.5(PRPH2):c.306_320del (p.Ala103_Leu107del) deletion Uncertain significance 866947 6:42689753-42689767 6:42722015-42722029 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.8206G>C (p.Ala2736Pro) SNV Uncertain significance 867109 6:64436439-64436439 6:63726546-63726546 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.8151G>A (p.Lys2717=) SNV Uncertain significance 866322 6:64436494-64436494 6:63726601-63726601 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.8122_8125delinsG (p.Ser2708_Phe2709delinsVal) indel Uncertain significance 866087 6:64436520-64436523 6:63726627-63726630 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.8120T>G (p.Met2707Arg) SNV Uncertain significance 866503 6:64436525-64436525 6:63726632-63726632 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.8035T>C (p.Cys2679Arg) SNV Uncertain significance 867119 6:64472390-64472390 6:63762497-63762497 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.7748G>A (p.Arg2583His) SNV Uncertain significance 866973 6:64488049-64488049 6:63778156-63778156 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.9131G>T (p.Trp3044Leu) SNV Uncertain significance 865822 6:64430796-64430796 6:63720900-63720900 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.9083T>A (p.Ile3028Asn) SNV Uncertain significance 866842 6:64430844-64430844 6:63720948-63720948 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.8620T>C (p.Cys2874Arg) SNV Uncertain significance 866841 6:64431307-64431307 6:63721411-63721411 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.24G>C (p.Gly8=) SNV Uncertain significance 866184 3:101039193-101039193 3:101320349-101320349 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.16G>A (p.Gly6Ser) SNV Uncertain significance 866917 3:129247592-129247592 3:129528749-129528749 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.31G>A (p.Val11Met) SNV Uncertain significance 866329 3:129247607-129247607 3:129528764-129528764 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.58G>A (p.Val20Ile) SNV Uncertain significance 866051 3:129247634-129247634 3:129528791-129528791 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.72C>A (p.Phe24Leu) SNV Uncertain significance 865897 3:129247648-129247648 3:129528805-129528805 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.94G>C (p.Ala32Pro) SNV Uncertain significance 866763 3:129247670-129247670 3:129528827-129528827 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.1312A>G (p.Ser438Gly) SNV Uncertain significance 867008 3:100964877-100964877 3:101246033-101246033 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.1595C>T (p.Pro532Leu) SNV Uncertain significance 865825 3:100963580-100963580 3:101244736-101244736 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.2352G>T (p.Trp784Cys) SNV Uncertain significance 865817 3:100962823-100962823 3:101243979-101243979 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.1926T>A (p.Ala642=) SNV Uncertain significance 866965 3:100963249-100963249 3:101244405-101244405 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.2761T>C (p.Ser921Pro) SNV Uncertain significance 865816 3:100962414-100962414 3:101243570-101243570 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.2629A>C (p.Met877Leu) SNV Uncertain significance 865938 3:100962546-100962546 3:101243702-101243702 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.819T>G (p.Phe273Leu) SNV Uncertain significance 866931 3:100992434-100992434 3:101273590-101273590 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.1000G>A (p.Glu334Lys) SNV Uncertain significance 867017 3:100976526-100976526 3:101257682-101257682 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.279C>G (p.Ser93Arg) SNV Uncertain significance 866607 3:129247855-129247855 3:129529012-129529012 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.406T>C (p.Tyr136His) SNV Uncertain significance 866105 3:129249763-129249763 3:129530920-129530920 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.541G>C (p.Glu181Gln) SNV Uncertain significance 866002 3:129251104-129251104 3:129532261-129532261 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.551A>G (p.Gln184Arg) SNV Uncertain significance 867026 3:129251114-129251114 3:129532271-129532271 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.1139C>T (p.Ala380Val) SNV Uncertain significance 866131 4:16014900-16014900 4:16013277-16013277 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.879C>A (p.Ser293Arg) SNV Uncertain significance 866797 4:16020069-16020069 4:16018446-16018446 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.562A>G (p.Lys188Glu) SNV Uncertain significance 867002 4:16026883-16026883 4:16025260-16025260 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.2327A>T (p.Asp776Val) SNV Uncertain significance 866133 4:15985932-15985932 4:15984309-15984309 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.2300C>T (p.Ser767Leu) SNV Uncertain significance 865780 4:15985959-15985959 4:15984336-15984336 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.2020G>T (p.Ala674Ser) SNV Uncertain significance 865864 4:15991411-15991411 4:15989788-15989788 FND002 Fundus Dystrophy BBS12 NM_152618.3(BBS12):c.1763T>G (p.Leu588Arg) SNV Uncertain significance 865926 4:123664810-123664810 4:122743655-122743655 FND002 Fundus Dystrophy RAB28 NM_001017979.3(RAB28):c.266T>G (p.Val89Gly) SNV Uncertain significance 865911 4:13462448-13462448 4:13460824-13460824 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.2479G>A (p.Val827Met) SNV Uncertain significance 866800 4:15982055-15982055 4:15980432-15980432 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.2446G>C (p.Ala816Pro) SNV Uncertain significance 866234 4:15982088-15982088 4:15980465-15980465 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.2415A>T (p.Leu805Phe) SNV Uncertain significance 866685 4:15982119-15982119 4:15980496-15980496 FND002 Fundus Dystrophy GNAT1 NM_144499.3(GNAT1):c.947A>G (p.Tyr316Cys) SNV Uncertain significance 866036 3:50232282-50232282 3:50194849-50194849 FND002 Fundus Dystrophy OPA1 NM_130831.3(OPA1):c.1357A>G (p.Lys453Glu) SNV Uncertain significance 866278 3:193363363-193363363 3:193645574-193645574 FND002 Fundus Dystrophy OPA1 NM_130831.3(OPA1):c.1496A>C (p.Lys499Thr) SNV Uncertain significance 866805 3:193364868-193364868 3:193647079-193647079 FND002 Fundus Dystrophy SLC7A14 NM_020949.3(SLC7A14):c.1666C>T (p.Arg556Trp) SNV Uncertain significance 865930 3:170198405-170198405 3:170480616-170480616 FND002 Fundus Dystrophy OPA1 NM_130831.3(OPA1):c.517-5419_517-5418del deletion Uncertain significance 866529 3:193343981-193343982 3:193626192-193626193 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.808A>C (p.Ser270Arg) SNV Uncertain significance 866244 3:129251487-129251487 3:129532644-129532644 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.925A>T (p.Met309Leu) SNV Uncertain significance 866361 3:129251604-129251604 3:129532761-129532761 FND002 Fundus Dystrophy CLRN1 NM_052995.2(CLRN1):c.212G>A (p.Cys71Tyr) SNV Uncertain significance 867200 3:150645982-150645982 3:150928195-150928195 FND002 Fundus Dystrophy RHO NM_000539.3(RHO):c.1030C>G (p.Gln344Glu) SNV Uncertain significance 866738 3:129252544-129252544 3:129533701-129533701 FND002 Fundus Dystrophy PCARE NM_001029883.3(PCARE):c.402T>G (p.Ser134Arg) SNV Uncertain significance 866686 2:29296726-29296726 2:29073860-29073860 FND002 Fundus Dystrophy EFEMP1 NM_001039348.3(EFEMP1):c.1430G>A (p.Arg477His) SNV Uncertain significance 866024 2:56094260-56094260 2:55867125-55867125 FND002 Fundus Dystrophy EFEMP1 NM_001039348.3(EFEMP1):c.1365A>T (p.Leu455Phe) SNV Uncertain significance 866535 2:56094325-56094325 2:55867190-55867190 FND002 Fundus Dystrophy EFEMP1 NM_001039348.3(EFEMP1):c.678A>C (p.Gln226His) SNV Uncertain significance 865993 2:56104963-56104963 2:55877828-55877828 FND002 Fundus Dystrophy EFEMP1 NM_001039348.3(EFEMP1):c.339G>T (p.Leu113Phe) SNV Uncertain significance 866486 2:56144978-56144978 2:55917843-55917843 FND002 Fundus Dystrophy FAM161A NM_001201543.2(FAM161A):c.139G>C (p.Glu47Gln) SNV Uncertain significance 866876 2:62081038-62081038 2:61853903-61853903 FND002 Fundus Dystrophy PCARE NM_001029883.3(PCARE):c.845_865del (p.Asn282_Leu288del) deletion Uncertain significance 865920 2:29296263-29296283 2:29073397-29073417 FND002 Fundus Dystrophy ALMS1 NM_001378454.1(ALMS1):c.1135A>G (p.Asn379Asp) SNV Uncertain significance 866428 2:73651928-73651928 2:73424800-73424800 FND002 Fundus Dystrophy ALMS1 NM_001378454.1(ALMS1):c.5538G>T (p.Leu1846=) SNV Uncertain significance 866498 2:73679192-73679192 2:73452065-73452065 FND002 Fundus Dystrophy ALMS1 NM_001378454.1(ALMS1):c.10538A>T (p.Asp3513Val) SNV Uncertain significance 866499 2:73799542-73799542 2:73572415-73572415 FND002 Fundus Dystrophy ALMS1 NM_001378454.1(ALMS1):c.7846C>T (p.Arg2616Trp) SNV Uncertain significance 866741 2:73716932-73716932 2:73489805-73489805 FND002 Fundus Dystrophy SNRNP200 NM_014014.5(SNRNP200):c.5491C>G (p.Leu1831Val) SNV Uncertain significance 866948 2:96944094-96944094 2:96278356-96278356 FND002 Fundus Dystrophy SNRNP200 NM_014014.5(SNRNP200):c.4839G>C (p.Leu1613=) SNV Uncertain significance 866718 2:96949015-96949015 2:96283277-96283277 FND002 Fundus Dystrophy SNRNP200 NM_014014.5(SNRNP200):c.4796C>T (p.Pro1599Leu) SNV Uncertain significance 867015 2:96949058-96949058 2:96283320-96283320 FND002 Fundus Dystrophy SNRNP200 NM_014014.5(SNRNP200):c.4708C>T (p.Arg1570Cys) SNV Uncertain significance 866187 2:96949328-96949328 2:96283590-96283590 FND002 Fundus Dystrophy SNRNP200 NM_014014.5(SNRNP200):c.4042G>A (p.Val1348Met) SNV Uncertain significance 866466 2:96951040-96951040 2:96285302-96285302 FND002 Fundus Dystrophy SNRNP200 NM_014014.5(SNRNP200):c.3956G>A (p.Ser1319Asn) SNV Uncertain significance 866118 2:96952096-96952096 2:96286358-96286358 FND002 Fundus Dystrophy SNRNP200 NM_014014.5(SNRNP200):c.3688A>G (p.Ser1230Gly) SNV Uncertain significance 866658 2:96952567-96952567 2:96286829-96286829 FND002 Fundus Dystrophy SNRNP200 NM_014014.5(SNRNP200):c.2822A>G (p.Asp941Gly) SNV Uncertain significance 866252 2:96955655-96955655 2:96289917-96289917 FND002 Fundus Dystrophy SNRNP200 NM_014014.5(SNRNP200):c.2638C>G (p.Leu880Val) SNV Uncertain significance 866262 2:96956168-96956168 2:96290430-96290430 FND002 Fundus Dystrophy SNRNP200 NM_014014.5(SNRNP200):c.2549T>C (p.Leu850Pro) SNV Uncertain significance 866981 2:96956426-96956426 2:96290688-96290688 FND002 Fundus Dystrophy SNRNP200 NM_014014.5(SNRNP200):c.2517G>A (p.Gly839=) SNV Uncertain significance 866050 2:96956458-96956458 2:96290720-96290720 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.1981C>A (p.Arg661Ser) SNV Uncertain significance 867037 2:99013614-99013614 2:98397151-98397151 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.3233G>A (p.Arg1078Lys) SNV Uncertain significance 865918 3:100951625-100951625 3:101232781-101232781 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.1048A>G (p.Arg350Gly) SNV Uncertain significance 866647 2:99012681-99012681 2:98396218-98396218 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.1117G>A (p.Val373Met) SNV Uncertain significance 866006 2:99012750-99012750 2:98396287-98396287 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.2873G>A (p.Ser958Asn) SNV Uncertain significance 866232 3:100961681-100961681 3:101242837-101242837 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.3041G>T (p.Cys1014Phe) SNV Uncertain significance 867187 3:100951817-100951817 3:101232973-101232973 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.3172C>T (p.Pro1058Ser) SNV Uncertain significance 866107 3:100951686-100951686 3:101232842-101232842 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.907A>T (p.Ile303Phe) SNV Uncertain significance 866910 2:99012540-99012540 2:98396077-98396077 FND002 Fundus Dystrophy CNGA3 NM_001298.3(CNGA3):c.649G>C (p.Asp217His) SNV Uncertain significance 867035 2:99008409-99008409 2:98391946-98391946 FND002 Fundus Dystrophy SNRNP200 NM_014014.5(SNRNP200):c.1516G>T (p.Gly506Cys) SNV Uncertain significance 866228 2:96962429-96962429 2:96296691-96296691 FND002 Fundus Dystrophy SNRNP200 NM_014014.5(SNRNP200):c.737C>T (p.Ala246Val) SNV Uncertain significance 866676 2:96964698-96964698 2:96298960-96298960 FND002 Fundus Dystrophy SNRNP200 NM_014014.5(SNRNP200):c.338A>G (p.Tyr113Cys) SNV Uncertain significance 866065 2:96968940-96968940 2:96303202-96303202 FND002 Fundus Dystrophy SNRNP200 NM_014014.5(SNRNP200):c.1783A>G (p.Ile595Val) SNV Uncertain significance 866785 2:96961285-96961285 2:96295547-96295547 FND002 Fundus Dystrophy SNRNP200 NM_014014.5(SNRNP200):c.1775A>C (p.Lys592Thr) SNV Uncertain significance 866634 2:96961293-96961293 2:96295555-96295555 FND002 Fundus Dystrophy SNRNP200 NM_014014.5(SNRNP200):c.1733A>C (p.Glu578Ala) SNV Uncertain significance 865896 2:96961335-96961335 2:96295597-96295597 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2576A>G (p.Gln859Arg) SNV Uncertain significance 866492 1:94520678-94520678 1:94055122-94055122 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2570T>C (p.Leu857Pro) SNV Uncertain significance 867186 1:94520684-94520684 1:94055128-94055128 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2407G>A (p.Gly803Arg) SNV Uncertain significance 866169 1:94520847-94520847 1:94055291-94055291 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2252T>C (p.Leu751Pro) SNV Uncertain significance 865765 1:94522287-94522287 1:94056731-94056731 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2243G>A (p.Cys748Tyr) SNV Uncertain significance 865967 1:94522296-94522296 1:94056740-94056740 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2126C>T (p.Ser709Leu) SNV Uncertain significance 866280 1:94526127-94526127 1:94060571-94060571 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3059T>A (p.Val1020Glu) SNV Uncertain significance 866346 1:94509023-94509023 1:94043467-94043467 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3022T>C (p.Cys1008Arg) SNV Uncertain significance 866235 1:94510197-94510197 1:94044641-94044641 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3017G>A (p.Gly1006Asp) SNV Uncertain significance 867147 1:94510202-94510202 1:94044646-94044646 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2954G>T (p.Gly985Val) SNV Uncertain significance 866913 1:94510265-94510265 1:94044709-94044709 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2911A>C (p.Thr971Pro) SNV Uncertain significance 866288 1:94512482-94512482 1:94046926-94046926 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3383A>G (p.Asp1128Gly) SNV Uncertain significance 865859 1:94506904-94506904 1:94041348-94041348 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3398T>C (p.Ile1133Thr) SNV Uncertain significance 865806 1:94506889-94506889 1:94041333-94041333 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4129A>G (p.Ile1377Val) SNV Uncertain significance 866769 1:94496676-94496676 1:94031120-94031120 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3416A>G (p.Tyr1139Cys) SNV Uncertain significance 865830 1:94506871-94506871 1:94041315-94041315 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4416G>A (p.Gln1472=) SNV Uncertain significance 866567 1:94495124-94495124 1:94029568-94029568 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4676G>A (p.Gly1559Glu) SNV Uncertain significance 866119 1:94487499-94487499 1:94021943-94021943 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4672G>A (p.Gly1558Arg) SNV Uncertain significance 867189 1:94487503-94487503 1:94021947-94021947 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4765G>A (p.Val1589Met) SNV Uncertain significance 866045 1:94487410-94487410 1:94021854-94021854 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4849G>A (p.Val1617Met) SNV Uncertain significance 866589 1:94486965-94486965 1:94021409-94021409 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5080C>A (p.Pro1694Thr) SNV Uncertain significance 866864 1:94485254-94485254 1:94019698-94019698 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5026A>T (p.Thr1676Ser) SNV Uncertain significance 865889 1:94485308-94485308 1:94019752-94019752 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5026A>C (p.Thr1676Pro) SNV Uncertain significance 866953 1:94485308-94485308 1:94019752-94019752 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4966G>T (p.Val1656Phe) SNV Uncertain significance 866304 1:94486848-94486848 1:94021292-94021292 FND002 Fundus Dystrophy RPE65 NM_000329.3(RPE65):c.113T>G (p.Leu38Arg) SNV Uncertain significance 865838 1:68912525-68912525 1:68446842-68446842 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6806G>A (p.Arg2269Gln) SNV Uncertain significance 866026 1:94461675-94461675 1:93996119-93996119 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6718A>G (p.Thr2240Ala) SNV Uncertain significance 866115 1:94463428-94463428 1:93997872-93997872 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6579C>T (p.Phe2193=) SNV Uncertain significance 867162 1:94463567-94463567 1:93998011-93998011 FND002 Fundus Dystrophy RPE65 NM_000329.3(RPE65):c.1150G>T (p.Val384Phe) SNV Uncertain significance 866183 1:68897247-68897247 1:68431564-68431564 FND002 Fundus Dystrophy RPE65 NM_000329.3(RPE65):c.1040G>A (p.Arg347His) SNV Uncertain significance 865841 1:68903958-68903958 1:68438275-68438275 FND002 Fundus Dystrophy RPE65 NM_000329.3(RPE65):c.331C>A (p.Pro111Thr) SNV Uncertain significance 866507 1:68910481-68910481 1:68444798-68444798 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6494A>G (p.Tyr2165Cys) SNV Uncertain significance 865847 1:94463652-94463652 1:93998096-93998096 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6455G>T (p.Gly2152Val) SNV Uncertain significance 866940 1:94466416-94466416 1:94000860-94000860 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6380C>T (p.Ser2127Phe) SNV Uncertain significance 866942 1:94466564-94466564 1:94001008-94001008 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6208_6209delinsCA (p.Thr2070Gln) indel Uncertain significance 867176 1:94467487-94467488 1:94001931-94001932 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6110C>T (p.Ala2037Val) SNV Uncertain significance 866865 1:94471034-94471034 1:94005478-94005478 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5172G>T (p.Trp1724Cys) SNV Uncertain significance 866023 1:94485162-94485162 1:94019606-94019606 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5719_5720delinsTT (p.Ala1907Phe) indel Uncertain significance 865829 1:94474422-94474423 1:94008866-94008867 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5584G>A (p.Gly1862Ser) SNV Uncertain significance 867094 1:94476818-94476818 1:94011262-94011262 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5519G>C (p.Cys1840Ser) SNV Uncertain significance 866743 1:94476883-94476883 1:94011327-94011327 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5418C>A (p.Ser1806Arg) SNV Uncertain significance 866622 1:94480141-94480141 1:94014585-94014585 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5361C>T (p.Val1787=) SNV Uncertain significance 866616 1:94480198-94480198 1:94014642-94014642 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5308T>G (p.Tyr1770Asp) SNV Uncertain significance 866504 1:94481299-94481299 1:94015743-94015743 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5824G>C (p.Glu1942Gln) SNV Uncertain significance 867010 1:94474318-94474318 1:94008762-94008762 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5791G>A (p.Gly1931Ser) SNV Uncertain significance 866996 1:94474351-94474351 1:94008795-94008795 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6094C>T (p.His2032Tyr) SNV Uncertain significance 866474 1:94471050-94471050 1:94005494-94005494 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6091G>A (p.Glu2031Lys) SNV Uncertain significance 866538 1:94471053-94471053 1:94005497-94005497 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5951T>G (p.Met1984Arg) SNV Uncertain significance 866385 1:94473244-94473244 1:94007688-94007688 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3291A>T (p.Arg1097Ser) SNV Uncertain significance 866509 1:94508354-94508354 1:94042798-94042798 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1586A>G (p.Asn529Ser) SNV Uncertain significance 867156 1:94528842-94528842 1:94063286-94063286 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1761G>T (p.Arg587Ser) SNV Uncertain significance 866878 1:94528309-94528309 1:94062753-94062753 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1759A>G (p.Arg587Gly) SNV Uncertain significance 866988 1:94528669-94528669 1:94063113-94063113 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.847A>G (p.Arg283Gly) SNV Uncertain significance 866569 1:94548919-94548919 1:94083363-94083363 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.733T>C (p.Tyr245His) SNV Uncertain significance 866682 1:94564385-94564385 1:94098829-94098829 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.629T>A (p.Leu210Gln) SNV Uncertain significance 866421 1:94564489-94564489 1:94098933-94098933 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.583G>C (p.Val195Leu) SNV Uncertain significance 866211 1:94564535-94564535 1:94098979-94098979 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.488T>G (p.Leu163Arg) SNV Uncertain significance 866744 1:94568653-94568653 1:94103097-94103097 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.166T>A (p.Phe56Ile) SNV Uncertain significance 865764 1:94577130-94577130 1:94111574-94111574 FND002 Fundus Dystrophy NMNAT1 NM_022787.4(NMNAT1):c.-71G>C SNV Uncertain significance 865932 1:10003559-10003559 1:9943501-9943501 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.945G>A (p.Leu315=) SNV Uncertain significance 866756 1:94546188-94546188 1:94080632-94080632 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.911_937del (p.Met304_Phe312del) deletion Uncertain significance 866543 1:94546196-94546222 1:94080640-94080666 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1034A>G (p.Tyr345Cys) SNV Uncertain significance 866242 1:94546099-94546099 1:94080543-94080543 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1251T>C (p.Thr417=) SNV Uncertain significance 866460 1:94544251-94544251 1:94078695-94078695 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1208A>T (p.Asp403Val) SNV Uncertain significance 866970 1:94544909-94544909 1:94079353-94079353 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.1670G>C (p.Arg557Pro) SNV Uncertain significance 866874 2:112758843-112758843 2:112001266-112001266 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.842A>C (p.Lys281Thr) SNV Uncertain significance 866880 2:112722852-112722852 2:111965275-111965275 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.263C>T (p.Ser88Leu) SNV Uncertain significance 866432 2:112686898-112686898 2:111929321-111929321 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.2163T>A (p.His721Gln) SNV Uncertain significance 866882 2:112777073-112777073 2:112019496-112019496 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.2039A>C (p.His680Pro) SNV Uncertain significance 866314 2:112767603-112767603 2:112010026-112010026 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.2273G>A (p.Arg758His) SNV Uncertain significance 866612 2:112779082-112779082 2:112021505-112021505 FND002 Fundus Dystrophy KCNJ13 NM_002242.4(KCNJ13):c.341T>C (p.Leu114Pro) SNV Uncertain significance 866139 2:233635732-233635732 2:232771022-232771022 FND002 Fundus Dystrophy KCNJ13 NM_002242.4(KCNJ13):c.27T>G (p.Ile9Met) SNV Uncertain significance 866179 2:233636046-233636046 2:232771336-232771336 FND002 Fundus Dystrophy SAG NM_000541.5(SAG):c.437C>T (p.Ser146Phe) SNV Uncertain significance 867196 2:234235768-234235768 2:233327122-233327122 FND002 Fundus Dystrophy SAG NM_000541.5(SAG):c.764C>G (p.Ser255Trp) SNV Uncertain significance 865828 2:234240316-234240316 2:233331670-233331670 FND002 Fundus Dystrophy SAG NM_000541.5(SAG):c.1120_1132del (p.Asp374fs) deletion Uncertain significance 866959 2:234255458-234255470 2:233346812-233346824 FND002 Fundus Dystrophy AGBL5 NM_021831.6(AGBL5):c.332G>A (p.Arg111His) SNV Uncertain significance 866311 2:27276386-27276386 2:27053518-27053518 FND002 Fundus Dystrophy AGBL5 NM_021831.6(AGBL5):c.796C>G (p.Leu266Val) SNV Uncertain significance 866301 2:27278009-27278009 2:27055141-27055141 FND002 Fundus Dystrophy AGBL5 NM_021831.6(AGBL5):c.956A>G (p.Asp319Gly) SNV Uncertain significance 866300 2:27278597-27278597 2:27055729-27055729 FND002 Fundus Dystrophy PCARE NM_001029883.3(PCARE):c.2590G>A (p.Glu864Lys) SNV Uncertain significance 866427 2:29294538-29294538 2:29071672-29071672 FND002 Fundus Dystrophy AGBL5 NM_021831.6(AGBL5):c.1771G>A (p.Ala591Thr) SNV Uncertain significance 867071 2:27281367-27281367 2:27058499-27058499 FND002 Fundus Dystrophy AGBL5 NM_021831.6(AGBL5):c.2141C>T (p.Pro714Leu) SNV Uncertain significance 867072 2:27290413-27290413 2:27067545-27067545 FND002 Fundus Dystrophy ZNF513 NM_144631.6(ZNF513):c.523G>C (p.Glu175Gln) SNV Uncertain significance 866257 2:27601610-27601610 2:27378743-27378743 FND002 Fundus Dystrophy ZNF513 NM_144631.6(ZNF513):c.240T>A (p.Leu80=) SNV Uncertain significance 866256 2:27601893-27601893 2:27379026-27379026 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.2775T>C (p.His925=) SNV Uncertain significance 865768 2:112786216-112786216 2:112028639-112028639 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.2836T>G (p.Ser946Ala) SNV Uncertain significance 866426 2:112786277-112786277 2:112028700-112028700 FND002 Fundus Dystrophy CERKL NM_201548.5(CERKL):c.872C>T (p.Thr291Ile) SNV Uncertain significance 867183 2:182414384-182414384 2:181549657-181549657 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.10373C>T (p.Thr3458Met) SNV Uncertain significance 866029 1:215960026-215960026 1:215786684-215786684 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.10330T>G (p.Cys3444Gly) SNV Uncertain significance 866591 1:215960069-215960069 1:215786727-215786727 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.9998A>G (p.Asp3333Gly) SNV Uncertain significance 866220 1:215963585-215963585 1:215790243-215790243 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.9992T>A (p.Met3331Lys) SNV Uncertain significance 865763 1:215963591-215963591 1:215790249-215790249 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.9967T>G (p.Cys3323Gly) SNV Uncertain significance 866742 1:215963616-215963616 1:215790274-215790274 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.9944A>G (p.Tyr3315Cys) SNV Uncertain significance 866633 1:215972263-215972263 1:215798921-215798921 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.9884G>T (p.Cys3295Phe) SNV Uncertain significance 866654 1:215972323-215972323 1:215798981-215798981 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.9788_9808del (p.Ile3263_Gly3269del) deletion Uncertain significance 866859 1:215972399-215972419 1:215799057-215799077 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.10826G>C (p.Ser3609Thr) SNV Uncertain significance 866767 1:215953298-215953298 1:215779956-215779956 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.10485_10487AGA[1] (p.Glu3496del) short repeat Uncertain significance 866222 1:215956175-215956177 1:215782833-215782835 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.10474G>T (p.Ala3492Ser) SNV Uncertain significance 866403 1:215956191-215956191 1:215782849-215782849 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.11156G>T (p.Arg3719Leu) SNV Uncertain significance 866354 1:215933077-215933077 1:215759735-215759735 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.11530A>G (p.Ile3844Val) SNV Uncertain significance 866827 1:215916537-215916537 1:215743195-215743195 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.11377T>C (p.Trp3793Arg) SNV Uncertain significance 867217 1:215931949-215931949 1:215758607-215758607 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.8189C>A (p.Pro2730His) SNV Uncertain significance 866826 1:216061802-216061802 1:215888460-215888460 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.8041A>T (p.Met2681Leu) SNV Uncertain significance 866018 1:216061950-216061950 1:215888608-215888608 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.8790T>G (p.Asn2930Lys) SNV Uncertain significance 866103 1:216040404-216040404 1:215867062-215867062 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.8861A>T (p.Gln2954Leu) SNV Uncertain significance 866894 1:216019360-216019360 1:215846018-215846018 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.9668G>C (p.Cys3223Ser) SNV Uncertain significance 867063 1:215987149-215987149 1:215813807-215813807 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.9413G>C (p.Gly3138Ala) SNV Uncertain significance 866347 1:215990496-215990496 1:215817154-215817154 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.6715G>C (p.Asp2239His) SNV Uncertain significance 866561 1:216166452-216166452 1:215993110-215993110 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.6712G>A (p.Glu2238Lys) SNV Uncertain significance 866447 1:216166455-216166455 1:215993113-215993113 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.6367T>G (p.Cys2123Gly) SNV Uncertain significance 867098 1:216173863-216173863 1:216000521-216000521 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.5959T>A (p.Tyr1987Asn) SNV Uncertain significance 866577 1:216243533-216243533 1:216070191-216070191 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.5819T>C (p.Val1940Ala) SNV Uncertain significance 867195 1:216246269-216246269 1:216072927-216072927 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.5775A>G (p.Thr1925=) SNV Uncertain significance 866768 1:216246440-216246440 1:216073098-216073098 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.7540_7548del (p.Asn2514_Phe2516del) deletion Uncertain significance 866238 1:216073463-216073471 1:215900121-215900129 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.7340_7348del (p.Thr2447_Thr2449del) deletion Uncertain significance 866343 1:216074200-216074208 1:215900858-215900866 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.7099G>A (p.Gly2367Arg) SNV Uncertain significance 866563 1:216138680-216138680 1:215965338-215965338 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.6905A>C (p.His2302Pro) SNV Uncertain significance 867134 1:216144019-216144019 1:215970677-215970677 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.5447T>G (p.Val1816Gly) SNV Uncertain significance 865788 1:216251556-216251556 1:216078214-216078214 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.5179C>T (p.Leu1727Phe) SNV Uncertain significance 866164 1:216256917-216256917 1:216083575-216083575 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.4819T>C (p.Trp1607Arg) SNV Uncertain significance 866172 1:216262421-216262421 1:216089079-216089079 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.4730G>T (p.Gly1577Val) SNV Uncertain significance 866624 1:216270453-216270453 1:216097111-216097111 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.4670T>C (p.Ile1557Thr) SNV Uncertain significance 865940 1:216270513-216270513 1:216097171-216097171 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.4102C>T (p.Pro1368Ser) SNV Uncertain significance 866323 1:216370044-216370044 1:216196702-216196702 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.3665C>T (p.Ala1222Val) SNV Uncertain significance 866990 1:216373115-216373115 1:216199773-216199773 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.3455T>C (p.Leu1152Ser) SNV Uncertain significance 867201 1:216373325-216373325 1:216199983-216199983 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.3149G>T (p.Cys1050Phe) SNV Uncertain significance 866858 1:216390737-216390737 1:216217395-216217395 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.3068G>A (p.Cys1023Tyr) SNV Uncertain significance 865792 1:216390818-216390818 1:216217476-216217476 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.3008A>G (p.Asn1003Ser) SNV Uncertain significance 867165 1:216390878-216390878 1:216217536-216217536 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.1387_1419delinsACT (p.Tyr463_Asn472del) indel Uncertain significance 866241 1:216496947-216496979 1:216323605-216323637 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.2844C>G (p.Cys948Trp) SNV Uncertain significance 866889 1:216405444-216405444 1:216232102-216232102 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.2186G>A (p.Cys729Tyr) SNV Uncertain significance 866389 1:216420550-216420550 1:216247208-216247208 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.2087G>T (p.Cys696Phe) SNV Uncertain significance 865965 1:216424325-216424325 1:216250983-216250983 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.1674C>T (p.Asp558=) SNV Uncertain significance 866956 1:216465683-216465683 1:216292341-216292341 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.299T>A (p.Leu100His) SNV Uncertain significance 866014 1:216595380-216595380 1:216422038-216422038 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.263G>T (p.Cys88Phe) SNV Uncertain significance 866253 1:216595416-216595416 1:216422074-216422074 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.151A>T (p.Ile51Phe) SNV Uncertain significance 865939 1:216595528-216595528 1:216422186-216422186 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.131G>A (p.Gly44Glu) SNV Uncertain significance 865906 1:216595548-216595548 1:216422206-216422206 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.1038_1091dup (p.Gln364_Leu365insHisAspAsnAspValGlyThrSerTrpValSerAsnValPheThrAsnIleThr) duplication Uncertain significance 866548 1:216498698-216498699 1:216325356-216325357 FND002 Fundus Dystrophy NPHP4 NM_015102.5(NPHP4):c.3718T>C (p.Cys1240Arg) SNV Uncertain significance 867140 1:5925260-5925260 1:5865200-5865200 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.13803A>T (p.Pro4601=) SNV Uncertain significance 866445 1:215847450-215847450 1:215674108-215674108 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.14557A>G (p.Met4853Val) SNV Uncertain significance 866574 1:215821895-215821895 1:215648553-215648553 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro) SNV Uncertain significance 866070 1:215822083-215822083 1:215648741-215648741 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.14368C>A (p.Gln4790Lys) SNV Uncertain significance 866724 1:215822084-215822084 1:215648742-215648742 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.14239T>C (p.Ser4747Pro) SNV Uncertain significance 866982 1:215824038-215824038 1:215650696-215650696 FND002 Fundus Dystrophy FLVCR1 NM_014053.4(FLVCR1):c.554G>C (p.Cys185Ser) SNV Uncertain significance 867215 1:213032348-213032348 1:212859006-212859006 FND002 Fundus Dystrophy FLVCR1 NM_014053.4(FLVCR1):c.704C>A (p.Ser235Tyr) SNV Uncertain significance 866952 1:213032498-213032498 1:212859156-212859156 FND002 Fundus Dystrophy FLVCR1 NM_014053.4(FLVCR1):c.1413G>A (p.Gln471=) SNV Uncertain significance 866250 1:213061936-213061936 1:212888594-212888594 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.3103C>T (p.His1035Tyr) SNV Uncertain significance 866293 1:197404096-197404096 1:197434966-197434966 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.3239T>C (p.Ile1080Thr) SNV Uncertain significance 866914 1:197404232-197404232 1:197435102-197435102 FND002 Fundus Dystrophy FLVCR1 NM_014053.4(FLVCR1):c.25G>A (p.Gly9Arg) SNV Uncertain significance 865989 1:213031819-213031819 1:212858477-212858477 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.12954C>T (p.Tyr4318=) SNV Uncertain significance 866132 1:215848299-215848299 1:215674957-215674957 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.12932T>C (p.Phe4311Ser) SNV Uncertain significance 866854 1:215848321-215848321 1:215674979-215674979 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.14748C>T (p.Gly4916=) SNV Uncertain significance 866064 1:215820907-215820907 1:215647565-215647565 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.13577G>A (p.Arg4526Gln) SNV Uncertain significance 866149 1:215847676-215847676 1:215674334-215674334 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.13567G>T (p.Val4523Phe) SNV Uncertain significance 865805 1:215847686-215847686 1:215674344-215674344 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.13414G>A (p.Gly4472Ser) SNV Uncertain significance 867103 1:215847839-215847839 1:215674497-215674497 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.13348C>T (p.Pro4450Ser) SNV Uncertain significance 866208 1:215847905-215847905 1:215674563-215674563 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.12022G>A (p.Asp4008Asn) SNV Uncertain significance 866357 1:215901416-215901416 1:215728074-215728074 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.12359G>A (p.Arg4120His) SNV Uncertain significance 866067 1:215848894-215848894 1:215675552-215675552 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.12299_12301ACA[1] (p.Asn4101del) short repeat Uncertain significance 865868 1:215848949-215848951 1:215675607-215675609 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.12897G>C (p.Arg4299Ser) SNV Uncertain significance 867102 1:215848356-215848356 1:215675014-215675014 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.12581G>A (p.Cys4194Tyr) SNV Uncertain significance 867067 1:215848672-215848672 1:215675330-215675330 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.12560G>A (p.Arg4187His) SNV Uncertain significance 865757 1:215848693-215848693 1:215675351-215675351 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.2521A>C (p.Thr841Pro) SNV Uncertain significance 866717 1:197396976-197396976 1:197427846-197427846 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.2632C>T (p.Leu878Phe) SNV Uncertain significance 866526 1:197397087-197397087 1:197427957-197427957 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.2671T>C (p.Cys891Arg) SNV Uncertain significance 866665 1:197397126-197397126 1:197427996-197427996 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.2834G>A (p.Gly945Glu) SNV Uncertain significance 867118 1:197398736-197398736 1:197429606-197429606 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.2956A>T (p.Asn986Tyr) SNV Uncertain significance 866651 1:197403949-197403949 1:197434819-197434819 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.3100T>C (p.Trp1034Arg) SNV Uncertain significance 866382 1:197404093-197404093 1:197434963-197434963 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.3809A>G (p.Asn1270Ser) SNV Uncertain significance 866431 1:197407736-197407736 1:197438606-197438606 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.3848G>A (p.Cys1283Tyr) SNV Uncertain significance 865861 1:197407775-197407775 1:197438645-197438645 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.3880T>C (p.Cys1294Arg) SNV Uncertain significance 866294 1:197411297-197411297 1:197442167-197442167 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.2294T>C (p.Val765Ala) SNV Uncertain significance 866828 1:197396749-197396749 1:197427619-197427619 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.1909C>T (p.Pro637Ser) SNV Uncertain significance 866666 1:197390867-197390867 1:197421737-197421737 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.2092T>C (p.Cys698Arg) SNV Uncertain significance 866912 1:197391050-197391050 1:197421920-197421920 FND002 Fundus Dystrophy SEMA4A NM_022367.4(SEMA4A):c.2175_2176dup (p.Glu726fs) duplication Uncertain significance 866935 1:156146674-156146675 1:156176883-156176884 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.1181G>A (p.Cys394Tyr) SNV Uncertain significance 866205 1:197390139-197390139 1:197421009-197421009 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.1640A>C (p.Gln547Pro) SNV Uncertain significance 866629 1:197390598-197390598 1:197421468-197421468 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.547T>C (p.Cys183Arg) SNV Uncertain significance 866194 1:197298028-197298028 1:197328898-197328898 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.629G>T (p.Cys210Phe) SNV Uncertain significance 867145 1:197298110-197298110 1:197328980-197328980 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.796T>A (p.Cys266Ser) SNV Uncertain significance 866804 1:197313554-197313554 1:197344424-197344424 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.872G>A (p.Ser291Asn) SNV Uncertain significance 866455 1:197316493-197316493 1:197347363-197347363 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.914G>C (p.Cys305Ser) SNV Uncertain significance 866628 1:197316535-197316535 1:197347405-197347405 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.1046A>T (p.Gln349Leu) SNV Uncertain significance 866464 1:197326018-197326018 1:197356888-197356888 FND002 Fundus Dystrophy CRB1 NM_201253.3(CRB1):c.1110_1111delinsGC (p.Ser371Pro) indel Uncertain significance 866126 1:197326082-197326083 1:197356952-197356953 FND002 Fundus Dystrophy PDE6A NM_000440.3(PDE6A):c.2506+7G>A SNV Uncertain significance 866869 5:149242675-149242675 5:149863112-149863112 FND002 Fundus Dystrophy PDE6A NM_000440.3(PDE6A):c.2359-17C>T SNV Uncertain significance 865779 5:149242846-149242846 5:149863283-149863283 FND002 Fundus Dystrophy PDE6A NM_000440.3(PDE6A):c.1927-13T>G SNV Uncertain significance 865958 5:149264155-149264155 5:149884592-149884592 FND002 Fundus Dystrophy PDE6A NM_000440.3(PDE6A):c.1926+6A>T SNV Uncertain significance 865960 5:149264337-149264337 5:149884774-149884774 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.1002+6C>T SNV Uncertain significance 865842 4:16019940-16019940 4:16018317-16018317 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.695-6A>G SNV Uncertain significance 866178 4:16025044-16025044 4:16023421-16023421 FND002 Fundus Dystrophy WDR19 NM_025132.4(WDR19):c.291-9A>G SNV Uncertain significance 866355 4:39196155-39196155 4:39194535-39194535 FND002 Fundus Dystrophy RAB28 NM_001017979.3(RAB28):c.392-9C>G SNV Uncertain significance 865912 4:13383227-13383227 4:13381603-13381603 FND002 Fundus Dystrophy CERKL NM_201548.5(CERKL):c.820+5G>C SNV Uncertain significance 867182 2:182423288-182423288 2:181558561-181558561 FND002 Fundus Dystrophy CERKL NM_201548.5(CERKL):c.238+5G>A SNV Uncertain significance 866958 2:182521491-182521491 2:181656764-181656764 FND002 Fundus Dystrophy SNRNP200 NM_014014.5(SNRNP200):c.4764-6G>A SNV Uncertain significance 866496 2:96949096-96949096 2:96283358-96283358 FND002 Fundus Dystrophy SNRNP200 NM_014014.5(SNRNP200):c.3175-8C>G SNV Uncertain significance 866987 2:96954492-96954492 2:96288754-96288754 FND002 Fundus Dystrophy SNRNP200 NM_014014.5(SNRNP200):c.574+10C>A SNV Uncertain significance 866597 2:96967252-96967252 2:96301514-96301514 FND002 Fundus Dystrophy SNRNP200 NM_014014.5(SNRNP200):c.210-8T>G SNV Uncertain significance 867218 2:96969076-96969076 2:96303338-96303338 FND002 Fundus Dystrophy IMPG2 NM_016247.4(IMPG2):c.3233+8_3233+45del deletion Uncertain significance 867020 3:100951580-100951617 3:101232736-101232773 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.2486+6T>A SNV Uncertain significance 866433 2:112779977-112779977 2:112022400-112022400 FND002 Fundus Dystrophy CERKL NM_201548.5(CERKL):c.1539-3C>A SNV Uncertain significance 866275 2:182402974-182402974 2:181538247-181538247 FND002 Fundus Dystrophy MERTK NM_006343.3(MERTK):c.61+3G>C SNV Uncertain significance 865867 2:112656376-112656376 2:111898799-111898799 FND002 Fundus Dystrophy CACNA1F NM_001256789.3(CACNA1F):c.4561C>G (p.Arg1521Gly) SNV Uncertain significance 866505 X:49066788-49066788 X:49210328-49210328 FND002 Fundus Dystrophy CACNA1F NM_001256789.3(CACNA1F):c.5230C>T (p.Arg1744Trp) SNV Uncertain significance 867124 X:49063467-49063467 X:49207006-49207006 FND002 Fundus Dystrophy RP2 NM_006915.3(RP2):c.38A>T (p.Lys13Met) SNV Uncertain significance 867123 X:46696573-46696573 X:46837138-46837138 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3328+18G>A SNV Uncertain significance 866206 1:94508299-94508299 1:94042743-94042743 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3051-19C>G SNV Uncertain significance 866615 1:94509050-94509050 1:94043494-94043494 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3051-19C>A SNV Uncertain significance 866664 1:94509050-94509050 1:94043494-94043494 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2654-6G>A SNV Uncertain significance 866696 1:94514519-94514519 1:94048963-94048963 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2654-8T>G SNV Uncertain significance 867061 1:94514521-94514521 1:94048965-94048965 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.2383-12G>A SNV Uncertain significance 865835 1:94520883-94520883 1:94055327-94055327 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.1937+5G>A SNV Uncertain significance 865837 1:94528128-94528128 1:94062572-94062572 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.859-14_859-13del deletion Uncertain significance 867075 1:94546287-94546288 1:94080731-94080732 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.570+1798A>G SNV Uncertain significance 866595 1:94566773-94566773 1:94101217-94101217 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.302+6T>G SNV Uncertain significance 866536 1:94576988-94576988 1:94111432-94111432 FND002 Fundus Dystrophy CHM NM_000390.4(CHM):c.116C>T (p.Ser39Leu) SNV Uncertain significance 866749 X:85282495-85282495 X:86027491-86027491 FND002 Fundus Dystrophy CHM NM_000390.4(CHM):c.385A>G (p.Asn129Asp) SNV Uncertain significance 866702 X:85218987-85218987 X:85963982-85963982 FND002 Fundus Dystrophy CHM NM_000390.4(CHM):c.1463G>T (p.Arg488Leu) SNV Uncertain significance 866185 X:85149240-85149240 X:85894235-85894235 FND002 Fundus Dystrophy CACNA1F NM_001256789.3(CACNA1F):c.593G>C (p.Gly198Ala) SNV Uncertain significance 866093 X:49087000-49087000 X:49230538-49230538 FND002 Fundus Dystrophy CACNA1F NM_001256789.3(CACNA1F):c.3808G>C (p.Gly1270Arg) SNV Uncertain significance 866372 X:49069439-49069439 X:49212979-49212979 FND002 Fundus Dystrophy CACNA1F NM_001256789.3(CACNA1F):c.4021G>A (p.Val1341Met) SNV Uncertain significance 865984 X:49068437-49068437 X:49211977-49211977 FND002 Fundus Dystrophy CACNA1F NM_001256789.3(CACNA1F):c.4161T>G (p.Cys1387Trp) SNV Uncertain significance 866502 X:49067881-49067881 X:49211421-49211421 FND002 Fundus Dystrophy RP2 NM_006915.3(RP2):c.768G>C (p.Glu256Asp) SNV Uncertain significance 866167 X:46713576-46713576 X:46854141-46854141 FND002 Fundus Dystrophy RP2 NM_006915.3(RP2):c.566T>C (p.Leu189Pro) SNV Uncertain significance 866013 X:46713374-46713374 X:46853939-46853939 FND002 Fundus Dystrophy RP2 NM_006915.3(RP2):c.415T>C (p.Ser139Pro) SNV Uncertain significance 865895 X:46713223-46713223 X:46853788-46853788 FND002 Fundus Dystrophy RP2 NM_006915.3(RP2):c.163G>A (p.Gly55Arg) SNV Uncertain significance 865821 X:46712971-46712971 X:46853536-46853536 FND002 Fundus Dystrophy C1QTNF5 NM_031433.4(MFRP):c.1516-5C>A SNV Uncertain significance 865857 11:119212487-119212487 11:119341777-119341777 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.2024-13del deletion Uncertain significance 866041 6:65767633-65767633 6:65057740-65057740 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.2024-15T>C SNV Uncertain significance 866978 6:65767635-65767635 6:65057742-65057742 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.-448+5G>A SNV Uncertain significance 865902 6:66417023-66417023 6:65707130-65707130 FND002 Fundus Dystrophy RIMS1 NM_014989.5(RIMS1):c.1957+5dup duplication Uncertain significance 866111 6:72947627-72947628 6:72237924-72237925 FND002 Fundus Dystrophy IMPG1 NM_001563.4(IMPG1):c.1292-3C>A SNV Uncertain significance 866420 6:76660814-76660814 6:75951097-75951097 FND002 Fundus Dystrophy TSPAN12 NM_012338.4(TSPAN12):c.469-3C>T SNV Uncertain significance 867041 7:120446749-120446749 7:120806695-120806695 FND002 Fundus Dystrophy IMPDH1 NM_000883.4(IMPDH1):c.1778+5G>A SNV Uncertain significance 866899 7:128034327-128034327 7:128394273-128394273 FND002 Fundus Dystrophy IMPDH1 NM_000883.4(IMPDH1):c.875-16C>G SNV Uncertain significance 865782 7:128038683-128038683 7:128398629-128398629 FND002 Fundus Dystrophy KLHL7 NM_001031710.3(KLHL7):c.1380-12T>G SNV Uncertain significance 866031 7:23212555-23212555 7:23172936-23172936 FND002 Fundus Dystrophy HGSNAT NM_152419.3(HGSNAT):c.118+5G>A SNV Uncertain significance 866001 8:42995762-42995762 8:43140619-43140619 FND002 Fundus Dystrophy PRPF4 NM_001244926.2(PRPF4):c.1254-11C>G SNV Uncertain significance 865852 9:116053167-116053167 9:113290887-113290887 FND002 Fundus Dystrophy PDE6A NM_000440.3(PDE6A):c.858+5G>T SNV Uncertain significance 866823 5:149310586-149310586 5:149931023-149931023 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.5110+4A>G SNV Uncertain significance 866159 5:89970055-89970055 5:90674238-90674238 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.8155+3G>C SNV Uncertain significance 865936 5:89992966-89992966 5:90697149-90697149 FND002 Fundus Dystrophy PDE6A NM_000440.3(PDE6A):c.1114-9_1114-5del deletion Uncertain significance 866592 5:149279092-149279096 5:149899529-149899533 FND002 Fundus Dystrophy CDH23 NM_022124.6(CDH23):c.8065-5C>A SNV Uncertain significance 866847 10:73565920-73565920 10:71806163-71806163 FND002 Fundus Dystrophy PDE6C NM_006204.4(PDE6C):c.481-4T>A SNV Uncertain significance 866430 10:95380385-95380385 10:93620628-93620628 FND002 Fundus Dystrophy PROM1 NM_006017.3(PROM1):c.1768-4G>T SNV Uncertain significance 866225 4:15994018-15994018 4:15992395-15992395 FND002 Fundus Dystrophy ADGRV1 NM_032119.4(ADGRV1):c.14837-8T>C SNV Uncertain significance 866712 5:90103411-90103411 5:90807594-90807594 FND002 Fundus Dystrophy TULP1 NM_003322.6(TULP1):c.1496-11T>G SNV Uncertain significance 866721 6:35466248-35466248 6:35498471-35498471 FND002 Fundus Dystrophy TULP1 NM_003322.6(TULP1):c.1224+20C>T SNV Uncertain significance 866231 6:35471494-35471494 6:35503717-35503717 FND002 Fundus Dystrophy RPGRIP1L NM_015272.5(RPGRIP1L):c.1805G>A (p.Arg602Gln) SNV Uncertain significance 866501 16:53686794-53686794 16:53652882-53652882 FND002 Fundus Dystrophy RPGRIP1L NM_015272.5(RPGRIP1L):c.1364A>G (p.Asn455Ser) SNV Uncertain significance 866500 16:53692363-53692363 16:53658451-53658451 FND002 Fundus Dystrophy RPGRIP1L NM_015272.5(RPGRIP1L):c.611C>A (p.Ala204Asp) SNV Uncertain significance 865839 16:53721796-53721796 16:53687884-53687884 FND002 Fundus Dystrophy RPGRIP1L NM_015272.5(RPGRIP1L):c.446C>T (p.Pro149Leu) SNV Uncertain significance 866243 16:53726061-53726061 16:53692149-53692149 FND002 Fundus Dystrophy IFT140 NM_014714.4(IFT140):c.56C>T (p.Ser19Leu) SNV Uncertain significance 867197 16:1657212-1657212 16:1607211-1607211 FND002 Fundus Dystrophy CLN3 NM_000086.2(CLN3):c.867C>T (p.Val289=) SNV Uncertain significance 867043 16:28493837-28493837 16:28482516-28482516 FND002 Fundus Dystrophy CLN3 NM_000086.2(CLN3):c.790G>C (p.Gly264Arg) SNV Uncertain significance 865890 16:28495327-28495327 16:28484006-28484006 FND002 Fundus Dystrophy IFT140 NM_014714.4(IFT140):c.920G>A (p.Arg307Gln) SNV Uncertain significance 865908 16:1637288-1637288 16:1587287-1587287 FND002 Fundus Dystrophy IFT140 NM_014714.4(IFT140):c.2607C>G (p.Cys869Trp) SNV Uncertain significance 866487 16:1576049-1576049 16:1526048-1526048 FND002 Fundus Dystrophy IFT140 NM_014714.4(IFT140):c.2243A>G (p.His748Arg) SNV Uncertain significance 867029 16:1608092-1608092 16:1558091-1558091 FND002 Fundus Dystrophy IFT140 NM_014714.4(IFT140):c.1984G>A (p.Val662Ile) SNV Uncertain significance 866550 16:1614081-1614081 16:1564080-1564080 FND002 Fundus Dystrophy NR2E3 NM_014249.4(NR2E3):c.200G>A (p.Cys67Tyr) SNV Uncertain significance 866483 15:72103904-72103904 15:71811564-71811564 FND002 Fundus Dystrophy NR2E3 NM_014249.4(NR2E3):c.238_240del (p.Ile80del) deletion Uncertain significance 867158 15:72103940-72103942 15:71811600-71811602 FND002 Fundus Dystrophy NR2E3 NM_014249.4(NR2E3):c.464G>A (p.Arg155His) SNV Uncertain significance 866331 15:72104409-72104409 15:71812069-71812069 FND002 Fundus Dystrophy NR2E3 NM_014249.4(NR2E3):c.629C>T (p.Ser210Phe) SNV Uncertain significance 866636 15:72104733-72104733 15:71812393-71812393 FND002 Fundus Dystrophy NR2E3 NM_014249.4(NR2E3):c.700T>C (p.Trp234Arg) SNV Uncertain significance 866394 15:72104804-72104804 15:71812464-71812464 FND002 Fundus Dystrophy NR2E3 NM_014249.4(NR2E3):c.905T>C (p.Val302Ala) SNV Uncertain significance 866698 15:72105886-72105886 15:71813546-71813546 FND002 Fundus Dystrophy TTLL5 NM_015072.5(TTLL5):c.2030G>A (p.Arg677Gln) SNV Uncertain significance 867152 14:76238091-76238091 14:75771748-75771748 FND002 Fundus Dystrophy IFT140 NM_014714.4(IFT140):c.3767C>T (p.Ser1256Phe) SNV Uncertain significance 866196 16:1570238-1570238 16:1520237-1520237 FND002 Fundus Dystrophy IFT140 NM_014714.4(IFT140):c.3713C>T (p.Ala1238Val) SNV Uncertain significance 866750 16:1570292-1570292 16:1520291-1520291 FND002 Fundus Dystrophy IFT140 NM_014714.4(IFT140):c.3581A>G (p.Gln1194Arg) SNV Uncertain significance 866425 16:1570682-1570682 16:1520681-1520681 FND002 Fundus Dystrophy IFT140 NM_014714.4(IFT140):c.2917G>A (p.Ala973Thr) SNV Uncertain significance 867006 16:1574865-1574865 16:1524864-1524864 FND002 Fundus Dystrophy PITPNM3 NM_031220.4(PITPNM3):c.2824G>A (p.Glu942Lys) SNV Uncertain significance 867064 17:6358759-6358759 17:6455439-6455439 FND002 Fundus Dystrophy PITPNM3 NM_031220.4(PITPNM3):c.1177G>T (p.Asp393Tyr) SNV Uncertain significance 866819 17:6377833-6377833 17:6474513-6474513 FND002 Fundus Dystrophy PITPNM3 NM_031220.4(PITPNM3):c.1132G>T (p.Gly378Trp) SNV Uncertain significance 866108 17:6377878-6377878 17:6474558-6474558 FND002 Fundus Dystrophy PITPNM3 NM_031220.4(PITPNM3):c.826A>G (p.Ile276Val) SNV Uncertain significance 867099 17:6381369-6381369 17:6478049-6478049 FND002 Fundus Dystrophy PITPNM3 NM_031220.4(PITPNM3):c.612G>C (p.Glu204Asp) SNV Uncertain significance 866761 17:6382032-6382032 17:6478712-6478712 FND002 Fundus Dystrophy GPR179 NM_001004334.4(GPR179):c.4052A>C (p.Asp1351Ala) SNV Uncertain significance 866494 17:36485400-36485400 17:38329517-38329517 FND002 Fundus Dystrophy GPR179 NM_001004334.4(GPR179):c.1154T>G (p.Leu385Arg) SNV Uncertain significance 866495 17:36492934-36492934 17:38337051-38337051 FND002 Fundus Dystrophy AIPL1 NM_014336.5(AIPL1):c.941_960dup (p.Leu321fs) duplication Uncertain significance 867131 17:6328974-6328975 17:6425654-6425655 FND002 Fundus Dystrophy PRPF8 NM_006445.4(PRPF8):c.3456G>A (p.Ala1152=) SNV Uncertain significance 866933 17:1576852-1576852 17:1673558-1673558 FND002 Fundus Dystrophy PRPF8 NM_006445.4(PRPF8):c.3335G>A (p.Arg1112His) SNV Uncertain significance 866688 17:1577151-1577151 17:1673857-1673857 FND002 Fundus Dystrophy PRPF8 NM_006445.4(PRPF8):c.1435A>T (p.Thr479Ser) SNV Uncertain significance 867030 17:1582475-1582475 17:1679181-1679181 FND002 Fundus Dystrophy PRPF8 NM_006445.4(PRPF8):c.851G>A (p.Arg284Gln) SNV Uncertain significance 866482 17:1584787-1584787 17:1681493-1681493 FND002 Fundus Dystrophy PRPF8 NM_006445.4(PRPF8):c.57C>G (p.Ala19=) SNV Uncertain significance 866946 17:1587809-1587809 17:1684515-1684515 FND002 Fundus Dystrophy GPR179 NM_001004334.4(GPR179):c.5575G>A (p.Val1859Ile) SNV Uncertain significance 866691 17:36483877-36483877 17:38327994-38327994 FND002 Fundus Dystrophy GPR179 NM_001004334.4(GPR179):c.4703G>A (p.Arg1568Lys) SNV Uncertain significance 866144 17:36484749-36484749 17:38328866-38328866 FND002 Fundus Dystrophy CNGB1 NM_001297.5(CNGB1):c.2302A>C (p.Lys768Gln) SNV Uncertain significance 866360 16:57949155-57949155 16:57915251-57915251 FND002 Fundus Dystrophy CNGB1 NM_001297.5(CNGB1):c.2294G>A (p.Arg765His) SNV Uncertain significance 866775 16:57949163-57949163 16:57915259-57915259 FND002 Fundus Dystrophy CNGB1 NM_001297.5(CNGB1):c.2239C>A (p.Pro747Thr) SNV Uncertain significance 866680 16:57949218-57949218 16:57915314-57915314 FND002 Fundus Dystrophy CNGB1 NM_001297.5(CNGB1):c.2127C>G (p.Phe709Leu) SNV Uncertain significance 866709 16:57951211-57951211 16:57917307-57917307 FND002 Fundus Dystrophy CNGB1 NM_001297.5(CNGB1):c.2733G>C (p.Lys911Asn) SNV Uncertain significance 866681 16:57937787-57937787 16:57903883-57903883 FND002 Fundus Dystrophy PRPF8 NM_006445.4(PRPF8):c.6446_6447insCAC (p.Gln2150_Trp2151insThr) insertion Uncertain significance 866796 17:1555005-1555006 17:1651711-1651712 FND002 Fundus Dystrophy PRPF8 NM_006445.4(PRPF8):c.6996C>A (p.Asp2332Glu) SNV Uncertain significance 866166 17:1554108-1554108 17:1650814-1650814 FND002 Fundus Dystrophy PRPF8 NM_006445.4(PRPF8):c.6910T>G (p.Phe2304Val) SNV Uncertain significance 866145 17:1554194-1554194 17:1650900-1650900 FND002 Fundus Dystrophy GUCY2D NM_000180.4(GUCY2D):c.3025A>C (p.Met1009Leu) SNV Uncertain significance 866787 17:7919141-7919141 17:8015823-8015823 FND002 Fundus Dystrophy GUCY2D NM_000180.4(GUCY2D):c.3271C>T (p.Arg1091Ter) SNV Uncertain significance 866048 17:7919807-7919807 17:8016489-8016489 FND002 Fundus Dystrophy REEP6 NM_138393.4(REEP6):c.268G>C (p.Val90Leu) SNV Uncertain significance 866272 19:1495526-1495526 19:1495527-1495527 FND002 Fundus Dystrophy REEP6 NM_138393.4(REEP6):c.391G>A (p.Gly131Arg) SNV Uncertain significance 866532 19:1496326-1496326 19:1496327-1496327 FND002 Fundus Dystrophy RAX2 NM_001319074.4(RAX2):c.516A>T (p.Glu172Asp) SNV Uncertain significance 867077 19:3770658-3770658 19:3770660-3770660 FND002 Fundus Dystrophy RAX2 NM_001319074.4(RAX2):c.265G>C (p.Glu89Gln) SNV Uncertain significance 866957 19:3770909-3770909 19:3770911-3770911 FND002 Fundus Dystrophy RAX2 NM_001319074.4(RAX2):c.148C>T (p.His50Tyr) SNV Uncertain significance 867060 19:3771593-3771593 19:3771595-3771595 FND002 Fundus Dystrophy RAX2 NM_001319074.4(RAX2):c.22G>A (p.Gly8Arg) SNV Uncertain significance 866332 19:3771719-3771719 19:3771721-3771721 FND002 Fundus Dystrophy CRX NM_000554.6(CRX):c.43G>C (p.Ala15Pro) SNV Uncertain significance 867204 19:48337743-48337743 19:47834486-47834486 FND002 Fundus Dystrophy GUCY2D NM_000180.4(GUCY2D):c.2280G>A (p.Val760=) SNV Uncertain significance 866201 17:7917214-7917214 17:8013896-8013896 FND002 Fundus Dystrophy GUCY2D NM_000180.4(GUCY2D):c.2457G>C (p.Ser819=) SNV Uncertain significance 866458 17:7917963-7917963 17:8014645-8014645 FND002 Fundus Dystrophy GUCY2D NM_000180.4(GUCY2D):c.2462T>C (p.Leu821Pro) SNV Uncertain significance 866488 17:7917968-7917968 17:8014650-8014650 FND002 Fundus Dystrophy GUCY2D NM_000180.4(GUCY2D):c.343T>C (p.Ser115Pro) SNV Uncertain significance 866021 17:7906708-7906708 17:8003390-8003390 FND002 Fundus Dystrophy GUCY2D NM_000180.4(GUCY2D):c.964C>T (p.Leu322=) SNV Uncertain significance 866046 17:7907412-7907412 17:8004094-8004094 FND002 Fundus Dystrophy GUCY2D NM_000180.4(GUCY2D):c.1877C>G (p.Ser626Cys) SNV Uncertain significance 867013 17:7915589-7915589 17:8012271-8012271 FND002 Fundus Dystrophy GUCY2D NM_000180.4(GUCY2D):c.1964G>A (p.Arg655Lys) SNV Uncertain significance 867097 17:7915775-7915775 17:8012457-8012457 FND002 Fundus Dystrophy GUCY2D NM_000180.4(GUCY2D):c.2525T>C (p.Leu842Pro) SNV Uncertain significance 866650 17:7918031-7918031 17:8014713-8014713 FND002 Fundus Dystrophy PRPF8 NM_006445.4(PRPF8):c.5951A>G (p.Lys1984Arg) SNV Uncertain significance 866336 17:1558680-1558680 17:1655386-1655386 FND002 Fundus Dystrophy GUCY2D NM_000180.4(GUCY2D):c.2719G>A (p.Asp907Asn) SNV Uncertain significance 866193 17:7918319-7918319 17:8015001-8015001 FND002 Fundus Dystrophy GUCY2D NM_000180.4(GUCY2D):c.2860C>G (p.Leu954Val) SNV Uncertain significance 866522 17:7918736-7918736 17:8015418-8015418 FND002 Fundus Dystrophy CRX NM_000554.6(CRX):c.378A>C (p.Arg126Ser) SNV Uncertain significance 867106 19:48342702-48342702 19:47839445-47839445 FND002 Fundus Dystrophy CRX NM_000554.6(CRX):c.684_685delinsAA (p.Leu229Ile) indel Uncertain significance 866884 19:48343008-48343009 19:47839751-47839752 FND002 Fundus Dystrophy CRX NM_000554.6(CRX):c.873G>T (p.Gln291His) SNV Uncertain significance 866266 19:48343197-48343197 19:47839940-47839940 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.-6C>A SNV Uncertain significance 866039 19:54621653-54621653 19:54118273-54118273 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.550_552del (p.Leu184del) deletion Uncertain significance 866923 19:54627149-54627151 19:54123770-54123772 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.808C>G (p.His270Asp) SNV Uncertain significance 866979 19:54627988-54627988 19:54124609-54124609 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.821T>G (p.Ile274Ser) SNV Uncertain significance 866478 19:54628001-54628001 19:54124622-54124622 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.654C>A (p.Asn218Lys) SNV Uncertain significance 866815 19:54627254-54627254 19:54123875-54123875 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.736G>T (p.Ala246Ser) SNV Uncertain significance 866028 19:54627916-54627916 19:54124537-54124537 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.745A>T (p.Ile249Phe) SNV Uncertain significance 866444 19:54627925-54627925 19:54124546-54124546 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.1034C>T (p.Ala345Val) SNV Uncertain significance 866011 19:54631536-54631536 19:54128161-54128161 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.1129C>G (p.Arg377Gly) SNV Uncertain significance 866822 19:54631735-54631735 19:54128360-54128360 FND002 Fundus Dystrophy PRPF31 NM_015629.4(PRPF31):c.1451C>G (p.Ala484Gly) SNV Uncertain significance 866613 19:54634814-54634814 19:54131383-54131383 FND002 Fundus Dystrophy ARHGEF18 NM_015318.4(ARHGEF18):c.565G>A (p.Val189Ile) SNV Uncertain significance 866260 19:7509332-7509332 19:7444446-7444446 FND002 Fundus Dystrophy ARHGEF18 NM_015318.4(ARHGEF18):c.1251G>A (p.Met417Ile) SNV Uncertain significance 865820 19:7523505-7523505 19:7458619-7458619 FND002 Fundus Dystrophy ARHGEF18 NM_015318.4(ARHGEF18):c.2316C>G (p.His772Gln) SNV Uncertain significance 866261 19:7532444-7532444 19:7467558-7467558 FND002 Fundus Dystrophy ARHGEF18 NM_015318.4(ARHGEF18):c.2327_2377del (p.Arg776_Glu792del) deletion Uncertain significance 866782 19:7532447-7532497 19:7467561-7467611 FND002 Fundus Dystrophy PNPLA6 NM_006702.5(PNPLA6):c.11C>A (p.Pro4Gln) SNV Uncertain significance 866303 19:7600447-7600447 19:7535561-7535561 FND002 Fundus Dystrophy PNPLA6 NM_001166114.2(PNPLA6):c.1246A>G (p.Ile416Val) SNV Uncertain significance 866302 19:7606947-7606947 19:7542061-7542061 FND002 Fundus Dystrophy ABHD12 NM_001042472.3(ABHD12):c.259C>A (p.Pro87Thr) SNV Uncertain significance 866468 20:25319920-25319920 20:25339284-25339284 FND002 Fundus Dystrophy PRPF6 NM_012469.4(PRPF6):c.514C>T (p.Arg172Trp) SNV Uncertain significance 866579 20:62626344-62626344 20:63994991-63994991 FND002 Fundus Dystrophy PRPF6 NM_012469.4(PRPF6):c.541C>G (p.Pro181Ala) SNV Uncertain significance 866999 20:62626371-62626371 20:63995018-63995018 FND002 Fundus Dystrophy PRPF6 NM_012469.4(PRPF6):c.2313_2321dup (p.772_774KNP[3]) duplication Uncertain significance 865813 20:62659062-62659063 20:64027709-64027710 FND002 Fundus Dystrophy OFD1 NM_003611.3(OFD1):c.1684A>C (p.Lys562Gln) SNV Uncertain significance 865845 X:13778263-13778263 X:13760144-13760144 FND002 Fundus Dystrophy RS1 NM_000330.4(RS1):c.386A>T (p.Glu129Val) SNV Uncertain significance 866490 X:18662686-18662686 X:18644566-18644566 FND002 Fundus Dystrophy MKKS NM_170784.3(MKKS):c.947T>C (p.Ile316Thr) SNV Uncertain significance 866180 20:10393216-10393216 20:10412568-10412568 FND002 Fundus Dystrophy TIMP3 NM_000362.5(TIMP3):c.34G>C (p.Gly12Arg) SNV Uncertain significance 866542 22:33198021-33198021 22:32802035-32802035 FND002 Fundus Dystrophy TIMP3 NM_000362.5(TIMP3):c.128G>A (p.Arg43Gln) SNV Uncertain significance 865785 22:33245445-33245445 22:32849458-32849458 FND002 Fundus Dystrophy TIMP3 NM_000362.5(TIMP3):c.576C>A (p.Cys192Ter) SNV Uncertain significance 867159 22:33255304-33255304 22:32859317-32859317 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+1025G>T SNV Uncertain significance 866392 X:38145322-38145322 X:38286069-38286069 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+916G>T SNV Uncertain significance 867012 X:38145431-38145431 X:38286178-38286178 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+512A>G SNV Uncertain significance 866213 X:38145835-38145835 X:38286582-38286582 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1905+455_1905+457del deletion Uncertain significance 866448 X:38145890-38145892 X:38286637-38286639 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.1753G>A (p.Glu585Lys) SNV Uncertain significance 866825 X:38147114-38147114 X:38287861-38287861 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.785-3C>G SNV Uncertain significance 865766 1:216500999-216500999 1:216327657-216327657 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.6282+9G>A SNV Uncertain significance 866171 1:94467405-94467405 1:94001849-94001849 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.5714+19C>A SNV Uncertain significance 866197 1:94476337-94476337 1:94010781-94010781 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4539+2084C>T SNV Uncertain significance 866606 1:94492917-94492917 1:94027361-94027361 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4539+2000G>A SNV Uncertain significance 866128 1:94493001-94493001 1:94027445-94027445 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4353-4T>C SNV Uncertain significance 866429 1:94495191-94495191 1:94029635-94029635 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4352+15G>A SNV Uncertain significance 866364 1:94495969-94495969 1:94030413-94030413 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4352+5G>T SNV Uncertain significance 866570 1:94495979-94495979 1:94030423-94030423 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4129-17C>T SNV Uncertain significance 866545 1:94496693-94496693 1:94031137-94031137 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4128+16G>A SNV Uncertain significance 866983 1:94497318-94497318 1:94031762-94031762 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4128+11C>T SNV Uncertain significance 866605 1:94497323-94497323 1:94031767-94031767 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.4128+8T>C SNV Uncertain significance 866025 1:94497326-94497326 1:94031770-94031770 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3523-6T>C SNV Uncertain significance 866540 1:94505689-94505689 1:94040133-94040133 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.6806-3C>T SNV Uncertain significance 866416 1:216144121-216144121 1:215970779-215970779 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.8682-16C>G SNV Uncertain significance 866415 1:216040528-216040528 1:215867186-215867186 FND002 Fundus Dystrophy ABCA4 NM_000350.3(ABCA4):c.3329-11C>T SNV Uncertain significance 866886 1:94506969-94506969 1:94041413-94041413 FND002 Fundus Dystrophy PRPF3 NM_004698.4(PRPF3):c.1526_1526+5delinsTGGCACT indel Uncertain significance 866576 1:150316737-150316742 1:150344261-150344266 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.3316+5G>C SNV Uncertain significance 865756 1:216380610-216380610 1:216207268-216207268 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.3157+5G>A SNV Uncertain significance 865968 1:216390724-216390724 1:216217382-216217382 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.2993+3A>T SNV Uncertain significance 866517 1:216405292-216405292 1:216231950-216231950 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.1644+5G>C SNV Uncertain significance 865949 1:216495220-216495220 1:216321878-216321878 FND002 Fundus Dystrophy RP2 NM_006915.3(RP2):c.19A>C (p.Lys7Gln) SNV Uncertain significance 866701 X:46696554-46696554 X:46837119-46837119 FND002 Fundus Dystrophy NYX NM_001378477.1(NYX):c.724_725delinsGG (p.Leu242Gly) indel Uncertain significance 866117 X:41333430-41333431 X:41474177-41474178 FND002 Fundus Dystrophy NYX NM_001378477.1(NYX):c.239G>C (p.Arg80Pro) SNV Uncertain significance 867038 X:41332945-41332945 X:41473692-41473692 FND002 Fundus Dystrophy NYX NM_001378477.1(NYX):c.332G>C (p.Arg111Pro) SNV Uncertain significance 866725 X:41333038-41333038 X:41473785-41473785 FND002 Fundus Dystrophy NYX NM_001378477.1(NYX):c.587C>T (p.Ala196Val) SNV Uncertain significance 866219 X:41333293-41333293 X:41474040-41474040 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.200_205TAGGAT[1] (p.67_68LG[1]) short repeat Uncertain significance 866237 X:38182142-38182147 X:38322889-38322894 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.203G>T (p.Gly68Val) SNV Uncertain significance 865952 X:38182150-38182150 X:38322897-38322897 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.198G>C (p.Gln66His) SNV Uncertain significance 866109 X:38182155-38182155 X:38322902-38322902 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.827T>G (p.Leu276Arg) SNV Uncertain significance 866713 X:38163995-38163995 X:38304742-38304742 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.362T>G (p.Leu121Arg) SNV Uncertain significance 865974 X:38178189-38178189 X:38318936-38318936 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.335G>A (p.Gly112Asp) SNV Uncertain significance 865959 X:38178216-38178216 X:38318963-38318963 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.493G>C (p.Gly165Arg) SNV Uncertain significance 866306 X:38176695-38176695 X:38317442-38317442 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.484_486del (p.Phe162del) deletion Uncertain significance 865931 X:38176702-38176704 X:38317449-38317451 FND002 Fundus Dystrophy RPGR NM_000328.3(RPGR):c.443G>A (p.Gly148Glu) SNV Uncertain significance 866960 X:38178108-38178108 X:38318855-38318855 FND002 Fundus Dystrophy PAX2 NM_000278.5(PAX2):c.1021+232del deletion Uncertain significance 865942 10:102584736-102584736 10:100824979-100824979 FND002 Fundus Dystrophy TOPORS NM_005802.5(TOPORS):c.2552G>A (p.Arg851Lys) SNV Uncertain significance 865900 9:32541971-32541971 9:32541973-32541973 FND002 Fundus Dystrophy TOPORS NM_005802.5(TOPORS):c.1283C>T (p.Ser428Leu) SNV Uncertain significance 867224 9:32543240-32543240 9:32543242-32543242 FND002 Fundus Dystrophy TOPORS NM_005802.5(TOPORS):c.1135C>A (p.Pro379Thr) SNV Uncertain significance 866247 9:32543388-32543388 9:32543390-32543390 FND002 Fundus Dystrophy TOPORS NM_005802.5(TOPORS):c.79G>A (p.Gly27Ser) SNV Uncertain significance 866096 9:32550891-32550891 9:32550893-32550893 FND002 Fundus Dystrophy CEP78 NM_001330691.3(CEP78):c.62_64dup (p.Leu22_Cys23insHis) duplication Uncertain significance 866098 9:80851327-80851328 9:78236411-78236412 FND002 Fundus Dystrophy RBP3 NM_002900.3(RBP3):c.2570A>C (p.His857Pro) SNV Uncertain significance 866610 10:48388308-48388308 10:47351054-47351054 FND002 Fundus Dystrophy RBP3 NM_002900.3(RBP3):c.3452C>T (p.Ala1151Val) SNV Uncertain significance 866609 10:48382197-48382197 10:47357165-47357165 FND002 Fundus Dystrophy RBP3 NM_002900.3(RBP3):c.3637C>T (p.Pro1213Ser) SNV Uncertain significance 865982 10:48382012-48382012 10:47357350-47357350 FND002 Fundus Dystrophy HK1 NM_033500.2(HK1):c.761A>G (p.Asp254Gly) SNV Uncertain significance 866949 10:71129302-71129302 10:69369546-69369546 FND002 Fundus Dystrophy HK1 NM_033500.2(HK1):c.1046T>C (p.Val349Ala) SNV Uncertain significance 867069 10:71139668-71139668 10:69379912-69379912 FND002 Fundus Dystrophy HK1 NM_033500.2(HK1):c.2668G>A (p.Ala890Thr) SNV Uncertain significance 865767 10:71160841-71160841 10:69401085-69401085 FND002 Fundus Dystrophy KIF11 NM_004523.4(KIF11):c.2372C>G (p.Thr791Arg) SNV Uncertain significance 866875 10:94405224-94405224 10:92645467-92645467 FND002 Fundus Dystrophy CDHR1 NM_033100.4(CDHR1):c.1883A>G (p.Glu628Gly) SNV Uncertain significance 866601 10:85972947-85972947 10:84213191-84213191 FND002 Fundus Dystrophy CDHR1 NM_033100.4(CDHR1):c.1162G>A (p.Asp388Asn) SNV Uncertain significance 866599 10:85968128-85968128 10:84208372-84208372 FND002 Fundus Dystrophy CDHR1 NM_033100.4(CDHR1):c.1367C>A (p.Ala456Glu) SNV Uncertain significance 867148 10:85970803-85970803 10:84211047-84211047 FND002 Fundus Dystrophy CDHR1 NM_033100.4(CDHR1):c.808G>A (p.Ala270Thr) SNV Uncertain significance 866379 10:85964307-85964307 10:84204551-84204551 FND002 Fundus Dystrophy CDH23 NM_022124.6(CDH23):c.6334G>A (p.Ala2112Thr) SNV Uncertain significance 866746 10:73553019-73553019 10:71793262-71793262 FND002 Fundus Dystrophy CDH23 NM_022124.6(CDH23):c.6343C>T (p.Arg2115Cys) SNV Uncertain significance 866839 10:73553028-73553028 10:71793271-71793271 FND002 Fundus Dystrophy CDH23 NM_022124.6(CDH23):c.8497C>T (p.Arg2833Cys) SNV Uncertain significance 866653 10:73567461-73567461 10:71807704-71807704 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.35C>G (p.Ala12Gly) SNV Uncertain significance 865923 11:61719313-61719313 11:61951841-61951841 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.77G>A (p.Gly26Asp) SNV Uncertain significance 866484 11:61719355-61719355 11:61951883-61951883 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.97T>C (p.Tyr33His) SNV Uncertain significance 866513 11:61719375-61719375 11:61951903-61951903 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.97T>G (p.Tyr33Asp) SNV Uncertain significance 866640 11:61719375-61719375 11:61951903-61951903 FND002 Fundus Dystrophy C1QTNF5 NM_001278431.2(C1QTNF5):c.628G>C (p.Gly210Arg) SNV Uncertain significance 866790 11:119210145-119210145 11:119339435-119339435 FND002 Fundus Dystrophy C1QTNF5 NM_001278431.2(C1QTNF5):c.586A>G (p.Met196Val) SNV Uncertain significance 866088 11:119210187-119210187 11:119339477-119339477 FND002 Fundus Dystrophy C1QTNF5 NM_001278431.2(C1QTNF5):c.563C>T (p.Pro188Leu) SNV Uncertain significance 865827 11:119210210-119210210 11:119339500-119339500 FND002 Fundus Dystrophy C1QTNF5 NM_001278431.2(C1QTNF5):c.545T>C (p.Phe182Ser) SNV Uncertain significance 867128 11:119210228-119210228 11:119339518-119339518 FND002 Fundus Dystrophy PDE6C NM_006204.4(PDE6C):c.1756T>C (p.Tyr586His) SNV Uncertain significance 866134 10:95400695-95400695 10:93640938-93640938 FND002 Fundus Dystrophy PDE6C NM_006204.4(PDE6C):c.736T>C (p.Ser246Pro) SNV Uncertain significance 867144 10:95381701-95381701 10:93621944-93621944 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.530C>T (p.Pro177Leu) SNV Uncertain significance 865877 11:61724364-61724364 11:61956892-61956892 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.539T>C (p.Met180Thr) SNV Uncertain significance 866163 11:61724373-61724373 11:61956901-61956901 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.559T>G (p.Trp187Gly) SNV Uncertain significance 867216 11:61724393-61724393 11:61956921-61956921 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.815T>C (p.Val272Ala) SNV Uncertain significance 865929 11:61725718-61725718 11:61958246-61958246 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.1062C>G (p.Phe354Leu) SNV Uncertain significance 866930 11:61727477-61727477 11:61960005-61960005 FND002 Fundus Dystrophy BEST1 NM_004183.4(BEST1):c.1174C>T (p.Arg392Cys) SNV Uncertain significance 866480 11:61729800-61729800 11:61962328-61962328 FND002 Fundus Dystrophy ROM1 NM_000327.4(ROM1):c.725G>A (p.Arg242Gln) SNV Uncertain significance 865901 11:62381864-62381864 11:62614392-62614392 FND002 Fundus Dystrophy LRP5 NM_002335.4(LRP5):c.698T>A (p.Val233Glu) SNV Uncertain significance 866038 11:68131226-68131226 11:68363758-68363758 FND002 Fundus Dystrophy LRP5 NM_002335.4(LRP5):c.1304C>T (p.Thr435Met) SNV Uncertain significance 867078 11:68154072-68154072 11:68386604-68386604 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.4385C>A (p.Ala1462Asp) SNV Uncertain significance 867135 11:76908587-76908587 11:77197542-77197542 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.2288_2292delinsCA (p.Asn763_Phe764delinsThr) indel Uncertain significance 867004 11:76890096-76890100 11:77179050-77179054 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.2464G>C (p.Ala822Pro) SNV Uncertain significance 866670 11:76890877-76890877 11:77179831-77179831 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.3055C>T (p.Arg1019Trp) SNV Uncertain significance 866774 11:76893147-76893147 11:77182101-77182101 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.3795G>A (p.Met1265Ile) SNV Uncertain significance 866475 11:76901786-76901786 11:77190741-77190741 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.1240A>G (p.Ile414Val) SNV Uncertain significance 866893 11:76872058-76872058 11:77161012-77161012 FND002 Fundus Dystrophy C1QTNF5 NM_001278431.2(C1QTNF5):c.96C>G (p.Pro32=) SNV Uncertain significance 866783 11:119211012-119211012 11:119340302-119340302 FND002 Fundus Dystrophy MFRP NM_031433.4(MFRP):c.1235T>C (p.Leu412Pro) SNV Uncertain significance 867184 11:119213603-119213603 11:119342893-119342893 FND002 Fundus Dystrophy CAPN5 NM_004055.5(CAPN5):c.121_123del (p.Tyr41del) deletion Uncertain significance 866807 11:76796053-76796055 11:77085007-77085009 FND002 Fundus Dystrophy CAPN5 NM_004055.5(CAPN5):c.1444G>A (p.Glu482Lys) SNV Uncertain significance 866943 11:76831912-76831912 11:77120866-77120866 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.3282T>G (p.Asn1094Lys) SNV Uncertain significance 866856 12:88487574-88487574 12:88093797-88093797 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.7340A>C (p.Lys2447Thr) SNV Uncertain significance 866908 12:88443061-88443061 12:88049284-88049284 FND002 Fundus Dystrophy RDH5 NM_002905.5(RDH5):c.800G>A (p.Cys267Tyr) SNV Uncertain significance 866462 12:56118172-56118172 12:55724388-55724388 FND002 Fundus Dystrophy MYO7A NM_000260.4(MYO7A):c.5892C>G (p.Asp1964Glu) SNV Uncertain significance 866519 11:76919510-76919510 11:77208465-77208465 FND002 Fundus Dystrophy FZD4 NM_012193.4(FZD4):c.700A>G (p.Thr234Ala) SNV Uncertain significance 867117 11:86663098-86663098 11:86952056-86952056 FND002 Fundus Dystrophy CACNA2D4 NM_172364.5(CACNA2D4):c.2723C>T (p.Thr908Met) SNV Uncertain significance 866692 12:1910809-1910809 12:1801643-1801643 FND002 Fundus Dystrophy CACNA2D4 NM_172364.5(CACNA2D4):c.1883G>A (p.Arg628Gln) SNV Uncertain significance 866258 12:1969368-1969368 12:1860202-1860202 FND002 Fundus Dystrophy RDH5 NM_002905.5(RDH5):c.8T>C (p.Leu3Pro) SNV Uncertain significance 866015 12:56114976-56114976 12:55721192-55721192 FND002 Fundus Dystrophy RDH5 NM_002905.5(RDH5):c.44T>C (p.Leu15Pro) SNV Uncertain significance 866016 12:56115012-56115012 12:55721228-55721228 FND002 Fundus Dystrophy RDH5 NM_002905.5(RDH5):c.200A>C (p.Asp67Ala) SNV Uncertain significance 866017 12:56115168-56115168 12:55721384-55721384 FND002 Fundus Dystrophy NRL NM_001354768.3(NRL):c.377T>G (p.Val126Gly) SNV Uncertain significance 866883 14:24551681-24551681 14:24082472-24082472 FND002 Fundus Dystrophy NRL NM_001354768.3(NRL):c.73C>T (p.Arg25Trp) SNV Uncertain significance 866730 14:24551985-24551985 14:24082776-24082776 FND002 Fundus Dystrophy OTX2 NM_021728.4(OTX2):c.455G>A (p.Ser152Asn) SNV Uncertain significance 866052 14:57268892-57268892 14:56802174-56802174 FND002 Fundus Dystrophy OTX2 NM_021728.4(OTX2):c.53C>A (p.Thr18Asn) SNV Uncertain significance 866703 14:57272122-57272122 14:56805404-56805404 FND002 Fundus Dystrophy RDH12 NM_152443.3(RDH12):c.85G>A (p.Gly29Arg) SNV Uncertain significance 866752 14:68191206-68191206 14:67724489-67724489 FND002 Fundus Dystrophy RDH12 NM_152443.3(RDH12):c.216T>G (p.Asp72Glu) SNV Uncertain significance 866465 14:68191844-68191844 14:67725127-67725127 FND002 Fundus Dystrophy RPGRIP1 NM_020366.3(RPGRIP1):c.2794C>G (p.Pro932Ala) SNV Uncertain significance 866687 14:21795865-21795865 14:21327706-21327706 FND002 Fundus Dystrophy NRL NM_001354768.3(NRL):c.620G>A (p.Arg207His) SNV Uncertain significance 866708 14:24550539-24550539 14:24081330-24081330 FND002 Fundus Dystrophy RPGRIP1 NM_020366.3(RPGRIP1):c.2431C>T (p.Leu811Phe) SNV Uncertain significance 866312 14:21794053-21794053 14:21325894-21325894 FND002 Fundus Dystrophy RPGRIP1 NM_020366.3(RPGRIP1):c.1909C>G (p.Leu637Val) SNV Uncertain significance 867141 14:21792923-21792923 14:21324764-21324764 FND002 Fundus Dystrophy POC1B NM_172240.3(POC1B):c.835T>C (p.Ser279Pro) SNV Uncertain significance 865808 12:89861438-89861438 12:89467661-89467661 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.2667G>T (p.Leu889Phe) SNV Uncertain significance 866437 12:88500602-88500602 12:88106825-88106825 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro) SNV Uncertain significance 866922 12:88502912-88502912 12:88109135-88109135 FND002 Fundus Dystrophy CEP290 NM_025114.4(CEP290):c.7257A>G (p.Ser2419=) SNV Uncertain significance 866388 12:88443144-88443144 12:88049367-88049367 FND002 Fundus Dystrophy RDH12 NM_152443.3(RDH12):c.560A>G (p.Asp187Gly) SNV Uncertain significance 866454 14:68193809-68193809 14:67727092-67727092 FND002 Fundus Dystrophy TTC8 NM_144596.4(TTC8):c.355A>G (p.Ile119Val) SNV Uncertain significance 866453 14:89307406-89307406 14:88841062-88841062 FND002 Fundus Dystrophy FBLN5 NM_006329.3(FBLN5):c.1334A>T (p.Gln445Leu) SNV Uncertain significance 866695 14:92336581-92336581 14:91870237-91870237 FND002 Fundus Dystrophy TRPM1 NM_001252024.2(TRPM1):c.3187C>T (p.Arg1063Trp) SNV Uncertain significance 866089 15:31320641-31320641 15:31028438-31028438 FND002 Fundus Dystrophy TRPM1 NM_001252024.2(TRPM1):c.3089G>C (p.Trp1030Ser) SNV Uncertain significance 866007 15:31323224-31323224 15:31031021-31031021 FND002 Fundus Dystrophy RDH12 NM_152443.3(RDH12):c.895A>C (p.Thr299Pro) SNV Uncertain significance 867080 14:68200509-68200509 14:67733792-67733792 FND002 Fundus Dystrophy TTLL5 NM_015072.5(TTLL5):c.491C>T (p.Ala164Val) SNV Uncertain significance 867121 14:76156654-76156654 14:75690311-75690311 FND002 Fundus Dystrophy TTLL5 NM_015072.5(TTLL5):c.1099G>A (p.Val367Met) SNV Uncertain significance 867003 14:76198737-76198737 14:75732394-75732394 FND002 Fundus Dystrophy RP1L1 NM_178857.6(RP1L1):c.3592T>G (p.Ser1198Ala) SNV Uncertain significance 867007 8:10468016-10468016 8:10610506-10610506 FND002 Fundus Dystrophy RP1L1 NM_178857.6(RP1L1):c.3413_3414del (p.Lys1138fs) deletion Uncertain significance 866349 8:10468194-10468195 8:10610684-10610685 FND002 Fundus Dystrophy RP1L1 NM_178857.6(RP1L1):c.3217C>T (p.Arg1073Trp) SNV Uncertain significance 866102 8:10468391-10468391 8:10610881-10610881 FND002 Fundus Dystrophy IMPDH1 NM_000883.4(IMPDH1):c.634G>A (p.Val212Met) SNV Uncertain significance 866122 7:128040539-128040539 7:128400485-128400485 FND002 Fundus Dystrophy IMPDH1 NM_000883.4(IMPDH1):c.598A>G (p.Ile200Val) SNV Uncertain significance 866524 7:128040575-128040575 7:128400521-128400521 FND002 Fundus Dystrophy IMPDH1 NM_000883.4(IMPDH1):c.593G>T (p.Gly198Val) SNV Uncertain significance 866078 7:128040580-128040580 7:128400526-128400526 FND002 Fundus Dystrophy IMPDH1 NM_000883.4(IMPDH1):c.281G>T (p.Gly94Val) SNV Uncertain significance 866892 7:128045893-128045893 7:128405839-128405839 FND002 Fundus Dystrophy IMPDH1 NM_000883.4(IMPDH1):c.19C>T (p.Pro7Ser) SNV Uncertain significance 866094 7:128049937-128049937 7:128409883-128409883 FND002 Fundus Dystrophy KLHL7 NM_001031710.3(KLHL7):c.410T>C (p.Leu137Ser) SNV Uncertain significance 865975 7:23164759-23164759 7:23125140-23125140 FND002 Fundus Dystrophy KLHL7 NM_001031710.3(KLHL7):c.820C>G (p.Pro274Ala) SNV Uncertain significance 865758 7:23191712-23191712 7:23152093-23152093 FND002 Fundus Dystrophy BBS9 NM_198428.3(BBS9):c.433G>A (p.Gly145Ser) SNV Uncertain significance 866586 7:33217194-33217194 7:33177582-33177582 FND002 Fundus Dystrophy BBS9 NM_198428.3(BBS9):c.809G>T (p.Cys270Phe) SNV Uncertain significance 866588 7:33312730-33312730 7:33273118-33273118 FND002 Fundus Dystrophy RP1L1 NM_178857.6(RP1L1):c.6856G>C (p.Asp2286His) SNV Uncertain significance 867179 8:10464752-10464752 8:10607242-10607242 FND002 Fundus Dystrophy RP1L1 NM_178857.6(RP1L1):c.4663C>A (p.Gln1555Lys) SNV Uncertain significance 866214 8:10466945-10466945 8:10609435-10609435 FND002 Fundus Dystrophy RP1L1 NM_178857.6(RP1L1):c.4342G>A (p.Glu1448Lys) SNV Uncertain significance 866195 8:10467266-10467266 8:10609756-10609756 FND002 Fundus Dystrophy RP1L1 NM_178857.6(RP1L1):c.3980C>A (p.Thr1327Lys) SNV Uncertain significance 866832 8:10467628-10467628 8:10610118-10610118 FND002 Fundus Dystrophy RP1L1 NM_178857.6(RP1L1):c.3695T>G (p.Leu1232Arg) SNV Uncertain significance 867033 8:10467913-10467913 8:10610403-10610403 FND002 Fundus Dystrophy RP1L1 NM_178857.6(RP1L1):c.3642C>A (p.Ser1214Arg) SNV Uncertain significance 866154 8:10467966-10467966 8:10610456-10610456 FND002 Fundus Dystrophy IMPDH1 NM_000883.4(IMPDH1):c.1694G>A (p.Arg565Gln) SNV Uncertain significance 865962 7:128034510-128034510 7:128394456-128394456 FND002 Fundus Dystrophy IMPDH1 NM_000883.4(IMPDH1):c.984_986GCT[3] (p.Leu330dup) short repeat Uncertain significance 866141 7:128038552-128038553 7:128398498-128398499 FND002 Fundus Dystrophy IMPDH1 NM_000883.4(IMPDH1):c.947G>A (p.Arg316Gln) SNV Uncertain significance 866754 7:128038595-128038595 7:128398541-128398541 FND002 Fundus Dystrophy IMPDH1 NM_000883.4(IMPDH1):c.945C>G (p.Asn315Lys) SNV Uncertain significance 866652 7:128038597-128038597 7:128398543-128398543 FND002 Fundus Dystrophy IMPDH1 NM_000883.4(IMPDH1):c.943A>T (p.Asn315Tyr) SNV Uncertain significance 866656 7:128038599-128038599 7:128398545-128398545 FND002 Fundus Dystrophy IMPDH1 NM_000883.4(IMPDH1):c.939_940insTTC (p.Lys314_Asn315insPhe) insertion Uncertain significance 866594 7:128038602-128038603 7:128398548-128398549 FND002 Fundus Dystrophy IMPDH1 NM_000883.4(IMPDH1):c.862C>T (p.Arg288Cys) SNV Uncertain significance 866030 7:128040161-128040161 7:128400107-128400107 FND002 Fundus Dystrophy LCA5 NM_001122769.3(LCA5):c.647C>G (p.Pro216Arg) SNV Uncertain significance 865776 6:80223002-80223002 6:79513285-79513285 FND002 Fundus Dystrophy PRDM13 NM_021620.4(PRDM13):c.761A>C (p.Gln254Pro) SNV Uncertain significance 866342 6:100061272-100061272 6:99613396-99613396 FND002 Fundus Dystrophy PRDM13 NM_021620.4(PRDM13):c.1099C>G (p.Leu367Val) SNV Uncertain significance 867056 6:100061610-100061610 6:99613734-99613734 FND002 Fundus Dystrophy IMPG1 NM_001563.4(IMPG1):c.618C>T (p.Leu206=) SNV Uncertain significance 866734 6:76731881-76731881 6:76022164-76022164 FND002 Fundus Dystrophy IMPG1 NM_001563.4(IMPG1):c.496A>C (p.Arg166=) SNV Uncertain significance 866733 6:76744033-76744033 6:76034316-76034316 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.2641G>A (p.Glu881Lys) SNV Uncertain significance 866520 6:65622377-65622377 6:64912484-64912484 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.2545C>T (p.Arg849Cys) SNV Uncertain significance 866582 6:65622473-65622473 6:64912580-64912580 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.3071A>G (p.Asn1024Ser) SNV Uncertain significance 866446 6:65532637-65532637 6:64822744-64822744 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.5810T>G (p.Leu1937Trp) SNV Uncertain significance 866812 6:65149080-65149080 6:64439187-64439187 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.5116C>G (p.Gln1706Glu) SNV Uncertain significance 866557 6:65300644-65300644 6:64590751-64590751 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.4046G>A (p.Arg1349Gln) SNV Uncertain significance 866084 6:65301714-65301714 6:64591821-64591821 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.6874A>C (p.Asn2292His) SNV Uncertain significance 866556 6:64694457-64694457 6:63984564-63984564 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.7721A>C (p.Gln2574Pro) SNV Uncertain significance 867168 6:64498000-64498000 6:63788107-63788107 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.7568G>A (p.Gly2523Asp) SNV Uncertain significance 865881 6:64498961-64498961 6:63789068-63789068 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.491G>A (p.Arg164Gln) SNV Uncertain significance 867031 6:66204813-66204813 6:65494920-65494920 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.1766+2645G>A SNV Uncertain significance 866693 6:66042228-66042228 6:65332335-65332335 FND002 Fundus Dystrophy EYS NM_001142800.2(EYS):c.-453G>T SNV Uncertain significance 866963 6:66417033-66417033 6:65707140-65707140 FND002 Fundus Dystrophy RIMS1 NM_014989.5(RIMS1):c.164A>T (p.Lys55Met) SNV Uncertain significance 866276 6:72596890-72596890 6:71887187-71887187 FND002 Fundus Dystrophy RIMS1 NM_014989.5(RIMS1):c.1679-20601G>A SNV Uncertain significance 867001 6:72922875-72922875 6:72213172-72213172 FND002 Fundus Dystrophy RIMS1 NM_014989.5(RIMS1):c.1744T>G (p.Ser582Ala) SNV Uncertain significance 866248 6:72943541-72943541 6:72233838-72233838 FND002 Fundus Dystrophy RIMS1 NM_014989.5(RIMS1):c.1784G>A (p.Arg595Gln) SNV Uncertain significance 866508 6:72945358-72945358 6:72235655-72235655 FND002 Fundus Dystrophy RIMS1 NM_014989.5(RIMS1):c.2077A>G (p.Ile693Val) SNV Uncertain significance 867050 6:72952136-72952136 6:72242433-72242433 FND002 Fundus Dystrophy RIMS1 NM_014989.5(RIMS1):c.2370A>G (p.Arg790=) SNV Uncertain significance 866279 6:72960161-72960161 6:72250458-72250458 FND002 Fundus Dystrophy RIMS1 NM_014989.5(RIMS1):c.2553A>G (p.Ile851Met) SNV Uncertain significance 867181 6:72960926-72960926 6:72251223-72251223 FND002 Fundus Dystrophy RIMS1 NM_014989.5(RIMS1):c.2696A>G (p.Gln899Arg) SNV Uncertain significance 865773 6:72961069-72961069 6:72251366-72251366 FND002 Fundus Dystrophy RIMS1 NM_014989.5(RIMS1):c.4111C>T (p.Arg1371Cys) SNV Uncertain significance 867076 6:73023356-73023356 6:72313653-72313653 FND002 Fundus Dystrophy IMPG1 NM_001563.4(IMPG1):c.2391T>C (p.Asn797=) SNV Uncertain significance 866722 6:76631809-76631809 6:75922092-75922092 FND002 Fundus Dystrophy IMPG1 NM_001563.4(IMPG1):c.1972G>A (p.Glu658Lys) SNV Uncertain significance 866402 6:76657103-76657103 6:75947386-75947386 FND002 Fundus Dystrophy IMPG1 NM_001563.4(IMPG1):c.1350C>G (p.Phe450Leu) SNV Uncertain significance 866412 6:76660753-76660753 6:75951036-75951036 FND002 Fundus Dystrophy IMPG1 NM_001563.4(IMPG1):c.1016C>A (p.Thr339Asn) SNV Uncertain significance 866895 6:76715123-76715123 6:76005406-76005406 FND002 Fundus Dystrophy RP1L1 NM_178857.6(RP1L1):c.601G>A (p.Gly201Arg) SNV Uncertain significance 866377 8:10480111-10480111 8:10622601-10622601 FND002 Fundus Dystrophy RP1L1 NM_178857.6(RP1L1):c.424_426TCC[4] (p.Ser144dup) short repeat Uncertain significance 866221 8:10480279-10480280 8:10622769-10622770 FND002 Fundus Dystrophy RP1L1 NM_178857.6(RP1L1):c.332del (p.Lys111fs) deletion Uncertain significance 866442 8:10480380-10480380 8:10622870-10622870 FND002 Fundus Dystrophy RP1L1 NM_178857.6(RP1L1):c.211C>T (p.Arg71Cys) SNV Uncertain significance 866378 8:10480501-10480501 8:10622991-10622991 FND002 Fundus Dystrophy RP1L1 NM_178857.6(RP1L1):c.32C>G (p.Pro11Arg) SNV Uncertain significance 866287 8:10480680-10480680 8:10623170-10623170 FND002 Fundus Dystrophy HGSNAT NM_152419.3(HGSNAT):c.791A>G (p.Tyr264Cys) SNV Uncertain significance 866337 8:43027500-43027500 8:43172357-43172357 FND002 Fundus Dystrophy HGSNAT NM_152419.3(HGSNAT):c.1229_1237del (p.Leu410_Val412del) deletion Uncertain significance 867092 8:43046714-43046722 8:43191571-43191579 FND002 Fundus Dystrophy HGSNAT NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys) SNV Uncertain significance 866424 8:43047526-43047526 8:43192383-43192383 FND002 Fundus Dystrophy HGSNAT NM_152419.3(HGSNAT):c.1856G>A (p.Trp619Ter) SNV Uncertain significance 866356 8:43054660-43054660 8:43199517-43199517 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.164T>A (p.Val55Asp) SNV Uncertain significance 866984 8:55533690-55533690 8:54621130-54621130 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.314T>C (p.Leu105Pro) SNV Uncertain significance 867212 8:55533840-55533840 8:54621280-54621280 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.445A>C (p.Met149Leu) SNV Uncertain significance 866694 8:55533971-55533971 8:54621411-54621411 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.487G>T (p.Asp163Tyr) SNV Uncertain significance 866851 8:55534013-55534013 8:54621453-54621453 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.598G>C (p.Ala200Pro) SNV Uncertain significance 866531 8:55534124-55534124 8:54621564-54621564 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.836C>T (p.Ser279Phe) SNV Uncertain significance 866888 8:55537278-55537278 8:54624718-54624718 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.1185G>C (p.Glu395Asp) SNV Uncertain significance 866146 8:55537627-55537627 8:54625067-54625067 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.1333C>T (p.Arg445Cys) SNV Uncertain significance 866438 8:55537775-55537775 8:54625215-54625215 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.1412C>T (p.Ser471Phe) SNV Uncertain significance 867062 8:55537854-55537854 8:54625294-54625294 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.1435A>G (p.Met479Val) SNV Uncertain significance 867205 8:55537877-55537877 8:54625317-54625317 FND002 Fundus Dystrophy IMPG1 NM_001563.4(IMPG1):c.188T>C (p.Leu63Ser) SNV Uncertain significance 866161 6:76751723-76751723 6:76042006-76042006 FND002 Fundus Dystrophy RP1L1 NM_178857.6(RP1L1):c.2005C>A (p.His669Asn) SNV Uncertain significance 866831 8:10469603-10469603 8:10612093-10612093 FND002 Fundus Dystrophy RP1L1 NM_178857.6(RP1L1):c.1850G>T (p.Cys617Phe) SNV Uncertain significance 865873 8:10469758-10469758 8:10612248-10612248 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.2757G>T (p.Trp919Cys) SNV Uncertain significance 865783 8:55539199-55539199 8:54626639-54626639 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.2759T>G (p.Leu920Trp) SNV Uncertain significance 865784 8:55539201-55539201 8:54626641-54626641 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.2794A>G (p.Ile932Val) SNV Uncertain significance 866008 8:55539236-55539236 8:54626676-54626676 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.3142G>A (p.Glu1048Lys) SNV Uncertain significance 866723 8:55539584-55539584 8:54627024-54627024 FND002 Fundus Dystrophy INPP5E NM_019892.6(INPP5E):c.754T>C (p.Ser252Pro) SNV Uncertain significance 866330 9:139333118-139333118 9:136438666-136438666 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.4967T>G (p.Val1656Gly) SNV Uncertain significance 865811 8:55541409-55541409 8:54628849-54628849 FND002 Fundus Dystrophy CNGB3 NM_019098.4(CNGB3):c.1255G>A (p.Glu419Lys) SNV Uncertain significance 865973 8:87645045-87645045 8:86632817-86632817 FND002 Fundus Dystrophy KCNV2 NM_133497.4(KCNV2):c.357C>G (p.Pro119=) SNV Uncertain significance 866678 9:2718096-2718096 9:2718096-2718096 FND002 Fundus Dystrophy KCNV2 NM_133497.4(KCNV2):c.989T>C (p.Phe330Ser) SNV Uncertain significance 867120 9:2718728-2718728 9:2718728-2718728 FND002 Fundus Dystrophy KCNV2 NM_133497.4(KCNV2):c.1384_1386del (p.Asp462del) deletion Uncertain significance 867088 9:2729473-2729475 9:2729473-2729475 FND002 Fundus Dystrophy KCNV2 NM_133497.4(KCNV2):c.1388T>G (p.Met463Arg) SNV Uncertain significance 866391 9:2729477-2729477 9:2729477-2729477 FND002 Fundus Dystrophy TOPORS NM_005802.5(TOPORS):c.3068C>T (p.Ser1023Leu) SNV Uncertain significance 866852 9:32541455-32541455 9:32541457-32541457 FND002 Fundus Dystrophy KCNV2 NM_133497.4(KCNV2):c.931G>A (p.Gly311Ser) SNV Uncertain significance 866679 9:2718670-2718670 9:2718670-2718670 FND002 Fundus Dystrophy KCNV2 NM_133497.4(KCNV2):c.931G>C (p.Gly311Arg) SNV Uncertain significance 866032 9:2718670-2718670 9:2718670-2718670 FND002 Fundus Dystrophy CNGB3 NM_019098.4(CNGB3):c.129G>C (p.Gln43His) SNV Uncertain significance 865957 8:87755727-87755727 8:86743499-86743499 FND002 Fundus Dystrophy C8orf37 NM_177965.4(C8orf37):c.433_444del (p.Tyr145_Asp148del) deletion Uncertain significance 866348 8:96264442-96264453 8:95252214-95252225 FND002 Fundus Dystrophy PRPF4 NM_001244926.2(PRPF4):c.556C>G (p.Pro186Ala) SNV Uncertain significance 865751 9:116045487-116045487 9:113283207-113283207 FND002 Fundus Dystrophy PRPF4 NM_001244926.2(PRPF4):c.743C>T (p.Ala248Val) SNV Uncertain significance 866848 9:116046663-116046663 9:113284383-113284383 FND002 Fundus Dystrophy INPP5E NM_019892.6(INPP5E):c.1759G>A (p.Val587Met) SNV Uncertain significance 867111 9:139324772-139324772 9:136430320-136430320 FND002 Fundus Dystrophy INPP5E NM_019892.6(INPP5E):c.1672G>T (p.Val558Phe) SNV Uncertain significance 866732 9:139324859-139324859 9:136430407-136430407 FND002 Fundus Dystrophy INPP5E NM_019892.6(INPP5E):c.1508C>T (p.Ala503Val) SNV Uncertain significance 866270 9:139326317-139326317 9:136431865-136431865 FND002 Fundus Dystrophy INPP5E NM_019892.6(INPP5E):c.1505C>T (p.Pro502Leu) SNV Uncertain significance 866583 9:139326320-139326320 9:136431868-136431868 FND002 Fundus Dystrophy INPP5E NM_019892.6(INPP5E):c.1402C>T (p.Arg468Cys) SNV Uncertain significance 866269 9:139326423-139326423 9:136431971-136431971 FND002 Fundus Dystrophy INPP5E NM_019892.6(INPP5E):c.1337T>C (p.Leu446Pro) SNV Uncertain significance 866514 9:139326981-139326981 9:136432529-136432529 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.4946G>A (p.Gly1649Glu) SNV Uncertain significance 865991 8:55541388-55541388 8:54628828-54628828 FND002 Fundus Dystrophy RP1 NM_006269.2(RP1):c.3319C>G (p.Gln1107Glu) SNV Uncertain significance 866358 8:55539761-55539761 8:54627201-54627201 FND002 Fundus Dystrophy RP1L1 NM_178857.6(RP1L1):c.1025G>A (p.Arg342Lys) SNV Uncertain significance 866341 8:10470583-10470583 8:10613073-10613073 FND002 Fundus Dystrophy RP1L1 NM_178857.6(RP1L1):c.955G>A (p.Gly319Ser) SNV Uncertain significance 867190 8:10470653-10470653 8:10613143-10613143 FND002 Fundus Dystrophy LRAT NM_004744.5(LRAT):c.*2258_*2259insTGTTGTGCTGAGTTT insertion Likely benign 347869 rs372786858 4:155672544-155672545 4:154751392-154751393 FND002 Fundus Dystrophy OTX2 NM_021728.4(OTX2):c.*340del deletion Likely benign 313414 rs3215889 14:57268113-57268113 14:56801395-56801395 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.12505A>G (p.Thr4169Ala) SNV Likely benign 166435 rs113107803 1:215848748-215848748 1:215675406-215675406 FND002 Fundus Dystrophy PAX2 NM_000278.5(PAX2):c.932C>T (p.Ala311Val) SNV Likely benign 156301 rs78738655 10:102584417-102584417 10:100824660-100824660 FND002 Fundus Dystrophy USH2A NM_206933.3(USH2A):c.8320G>A (p.Ala2774Thr) SNV Likely benign 48597 rs111033533 1:216052344-216052344 1:215879002-215879002 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) SNV Likely benign 48481 rs146824138 1:216462627-216462627 1:216289285-216289285 FND002 Fundus Dystrophy OTX2 NM_021728.4(OTX2):c.*779G>A SNV Benign/Likely benign 313409 rs138197536 14:57267674-57267674 14:56800956-56800956 FND002 Fundus Dystrophy OTX2 NM_021728.4(OTX2):c.*966A>G SNV Benign/Likely benign 313407 rs57390094 14:57267487-57267487 14:56800769-56800769 FND002 Fundus Dystrophy OTX2 NM_021728.4(OTX2):c.97+12C>T SNV Benign/Likely benign 313422 rs28757218 14:57272066-57272066 14:56805348-56805348 FND002 Fundus Dystrophy LRAT NM_004744.5(LRAT):c.*1867C>T SNV Benign/Likely benign 347867 rs78441257 4:155672155-155672155 4:154751003-154751003 FND002 Fundus Dystrophy OTX2 NM_021728.4(OTX2):c.*10G>A SNV Benign/Likely benign 288866 rs171978 14:57268443-57268443 14:56801725-56801725 FND002 Fundus Dystrophy LRAT NM_004744.5(LRAT):c.*817A>G SNV Benign/Likely benign 347861 rs78274322 4:155671105-155671105 4:154749953-154749953 FND002 Fundus Dystrophy LRAT NM_004744.5(LRAT):c.*3618G>A SNV Benign/Likely benign 347885 rs17032002 4:155673906-155673906 4:154752754-154752754 FND002 Fundus Dystrophy USH2A NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) SNV Benign 166434 rs199605265 1:215848678-215848678 1:215675336-215675336 FND002 Fundus Dystrophy GBA NM_000157.4(GBA):c.1388+2T>C SNV Pathogenic 813335 1:155205470-155205470 1:155235679-155235679 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.1174C>T (p.Arg392Trp) SNV Pathogenic 813336 1:155206086-155206086 1:155236295-155236295 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.970C>T (p.Arg324Cys) SNV Pathogenic 813337 1:155207161-155207161 1:155237370-155237370 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.1448T>C (p.Leu483Pro) SNV Pathogenic,risk factor 4288 rs421016 1:155205043-155205043 1:155235252-155235252 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.222_224del (p.Thr75del) deletion Pathogenic 642539 1:155209760-155209762 1:155239969-155239971 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.1504C>T (p.Arg502Cys) SNV Pathogenic 4295 rs80356771 1:155204987-155204987 1:155235196-155235196 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.754T>A (p.Phe252Ile) SNV Pathogenic 4301 rs381737 1:155207932-155207932 1:155238141-155238141 GCH017 Gaucher Disease, Type Iii GBA NM_001005741.2(GBA):c.84dupG (p.Leu29Alafs*18) duplication Pathogenic 4302 rs387906315 1:155210451-155210452 1:155240660-155240661 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.1604G>A (p.Arg535His) SNV Pathogenic 4311 rs75822236 1:155204793-155204793 1:155235002-155235002 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.1174C>G (p.Arg392Gly) SNV Pathogenic 4323 rs121908308 1:155206086-155206086 1:155236295-155236295 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.1246G>A (p.Gly416Ser) SNV Pathogenic 4327 rs121908311 1:155205614-155205614 1:155235823-155235823 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.887G>A (p.Arg296Gln) SNV Pathogenic 4328 rs78973108 1:155207244-155207244 1:155237453-155237453 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.354G>C (p.Lys118Asn) SNV Pathogenic 4330 rs121908312 1:155209507-155209507 1:155239716-155239716 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.703T>C (p.Ser235Pro) SNV Pathogenic 21072 rs1064644 1:155207983-155207983 1:155238192-155238192 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.115+1G>A SNV Pathogenic 93445 rs104886460 1:155210420-155210420 1:155240629-155240629 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.508C>T (p.Arg170Cys) SNV Pathogenic 93453 rs398123530 1:155208388-155208388 1:155238597-155238597 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.625C>T (p.Arg209Cys) SNV Pathogenic 93455 rs398123532 1:155208061-155208061 1:155238270-155238270 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.681T>G (p.Asn227Lys) SNV Pathogenic 93458 rs381418 1:155208005-155208005 1:155238214-155238214 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.721G>A (p.Gly241Arg) SNV Pathogenic 93459 rs409652 1:155207965-155207965 1:155238174-155238174 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.667T>C (p.Trp223Arg) SNV Pathogenic/Likely pathogenic 93457 rs61748906 1:155208019-155208019 1:155238228-155238228 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.1171G>C (p.Val391Leu) SNV Pathogenic/Likely pathogenic 93446 rs398123527 1:155206089-155206089 1:155236298-155236298 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.1448T>G (p.Leu483Arg) SNV Pathogenic/Likely pathogenic 93449 rs421016 1:155205043-155205043 1:155235252-155235252 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.680A>G (p.Asn227Ser) SNV Pathogenic/Likely pathogenic 4314 rs364897 1:155208006-155208006 1:155238215-155238215 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.764T>A (p.Phe255Tyr) SNV Pathogenic/Likely pathogenic 4298 rs74500255 1:155207367-155207367 1:155237576-155237576 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.1342G>C (p.Asp448His) SNV Pathogenic/Likely pathogenic 4293 rs1064651 1:155205518-155205518 1:155235727-155235727 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) SNV Pathogenic/Likely pathogenic 4290 rs76763715 1:155205634-155205634 1:155235843-155235843 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.1297G>T (p.Val433Leu) SNV Pathogenic/Likely pathogenic 4292 rs80356769 1:155205563-155205563 1:155235772-155235772 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.1343A>T (p.Asp448Val) SNV Likely pathogenic 4294 rs77369218 1:155205517-155205517 1:155235726-155235726 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.946C>T (p.Arg316Cys) SNV Likely pathogenic 813338 1:155207185-155207185 1:155237394-155237394 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.929G>A (p.Ser310Asn) SNV Likely pathogenic 813339 1:155207202-155207202 1:155237411-155237411 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.913C>G (p.Pro305Ala) SNV Likely pathogenic 813340 1:155207218-155207218 1:155237427-155237427 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.509G>A (p.Arg170His) SNV Likely pathogenic 813341 1:155208387-155208387 1:155238596-155238596 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.637C>T (p.Leu213Phe) SNV Conflicting interpretations of pathogenicity 281587 rs374591570 1:155208049-155208049 1:155238258-155238258 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.1102C>T (p.Arg368Cys) SNV Conflicting interpretations of pathogenicity 420153 rs374306700 1:155206158-155206158 1:155236367-155236367 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.882T>G (p.His294Gln) SNV Conflicting interpretations of pathogenicity, other 242810 rs367968666 1:155207249-155207249 1:155237458-155237458 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.1505G>A (p.Arg502His) SNV Conflicting interpretations of pathogenicity 21070 rs80356772 1:155204986-155204986 1:155235195-155235195 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.835C>G (p.Leu279Val) SNV Uncertain significance 375274 rs1057519020 1:155207296-155207296 1:155237505-155237505 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.1316G>A (p.Ser439Asn) SNV Uncertain significance 694729 1:155205544-155205544 1:155235753-155235753 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.1497G>C (p.Val499=) SNV Benign/Likely benign 93451 rs1135675 1:155204994-155204994 1:155235203-155235203 GCH017 Gaucher Disease, Type Iii GBA NM_000157.4(GBA):c.1483G>C (p.Ala495Pro) SNV Benign 93450 rs368060 1:155205008-155205008 1:155235217-155235217 GCH017 Gaucher Disease, Type Iii TRNL1 NC_012920.1:m.3243A>G SNV Pathogenic 9589 rs199474657 MT:3243-3243 MT:3243-3243 GLC003 Glucose Intolerance NEU1 NM_000434.4(NEU1):c.679G>A (p.Gly227Arg) SNV Pathogenic 430342 rs769765227 6:31828335-31828335 6:31860558-31860558 GLY031 Glycoproteinosis NEU1 NM_000434.4(NEU1):c.114_115del (p.Leu40fs) deletion Pathogenic 435974 rs754405067 6:31830439-31830440 6:31862662-31862663 GLY031 Glycoproteinosis NEU1 NM_000434.4(NEU1):c.544A>G (p.Ser182Gly) SNV Pathogenic/Likely pathogenic 430337 rs398123392 6:31829036-31829036 6:31861259-31861259 GLY031 Glycoproteinosis TRNE NC_012920.1:m.14724G>A SNV Pathogenic 805947 MT:14724-14724 MT:14724-14724 GND004 Gonadal Dysgenesis ATP6 NC_012920.1:m.9049G>A SNV Likely pathogenic 693064 MT:9049-9049 MT:9049-9049 GND004 Gonadal Dysgenesis BCS1L NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly) SNV Pathogenic 6167 rs28937590 2:219525942-219525942 2:218661219-218661219 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) SNV Pathogenic/Likely pathogenic 6169 rs121908576 2:219525876-219525876 2:218661153-218661153 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu) SNV Pathogenic/Likely pathogenic 6164 rs121908572 2:219526006-219526006 2:218661283-218661283 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.556C>T (p.Arg186Ter) SNV Pathogenic/Likely pathogenic 371250 rs779331797 2:219526577-219526577 2:218661854-218661854 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.607dup (p.Arg203fs) duplication Pathogenic/Likely pathogenic 370128 rs1057516255 2:219526627-219526628 2:218661904-218661905 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.889+1G>T SNV Pathogenic/Likely pathogenic 370247 rs1057516346 2:219527403-219527403 2:218662680-218662680 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.973dup (p.Arg325fs) duplication Likely pathogenic 370478 rs1057516518 2:219527686-219527687 2:218662963-218662964 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.1244_1245del (p.Glu415fs) deletion Likely pathogenic 370811 rs1057516786 2:219528092-219528093 2:218663369-218663370 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.655+1G>A SNV Likely pathogenic 370831 rs1057516802 2:219526677-219526677 2:218661954-218661954 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.245C>A (p.Ser82Ter) SNV Likely pathogenic 371015 rs749196764 2:219525955-219525955 2:218661232-218661232 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.349C>T (p.Arg117Ter) SNV Likely pathogenic 370387 rs777735526 2:219526157-219526157 2:218661434-218661434 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.418del (p.Leu140fs) deletion Likely pathogenic 371616 rs1057517412 2:219526224-219526224 2:218661501-218661501 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.460+2T>C SNV Likely pathogenic 371035 rs1057516954 2:219526270-219526270 2:218661547-218661547 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.-50+388C>G SNV Likely pathogenic 801896 2:219524854-219524854 2:218660131-218660131 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.431G>A (p.Arg144Gln) SNV Likely pathogenic 56413 rs386833857 2:219526239-219526239 2:218661516-218661516 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.980T>C (p.Val327Ala) SNV Likely pathogenic 56414 rs386833858 2:219527696-219527696 2:218662973-218662973 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.372dup (p.Asp125fs) duplication Likely pathogenic 557160 rs1553596638 2:219526179-219526180 2:218661456-218661457 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.1007+2_1007+5del deletion Likely pathogenic 550864 rs1553597934 2:219527722-219527725 2:218662999-218663002 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.53del (p.Ala18fs) deletion Likely pathogenic 554718 rs1553595997 2:219525763-219525763 2:218661040-218661040 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.472del (p.Ala158fs) deletion Likely pathogenic 558346 rs1553596929 2:219526493-219526493 2:218661770-218661770 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.821del (p.Pro274fs) deletion Likely pathogenic 555982 rs760559534 2:219527331-219527331 2:218662608-218662608 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.1036C>T (p.Arg346Ter) SNV Likely pathogenic 554448 rs550497120 2:219527885-219527885 2:218663162-218663162 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.460+1G>A SNV Likely pathogenic 557129 rs1553596761 2:219526269-219526269 2:218661546-218661546 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.534del (p.Phe179fs) deletion Likely pathogenic 558347 rs1553596996 2:219526553-219526553 2:218661830-218661830 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.772del (p.Asp258fs) deletion Likely pathogenic 554756 rs1363475546 2:219527284-219527284 2:218662561-218662561 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.889+1G>A SNV Likely pathogenic 550817 rs1057516346 2:219527403-219527403 2:218662680-218662680 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.1127T>A (p.Leu376Ter) SNV Likely pathogenic 558216 rs1553598145 2:219527976-219527976 2:218663253-218663253 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys) SNV Conflicting interpretations of pathogenicity 554974 rs140812286 2:219525927-219525927 2:218661204-218661204 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.-50+405A>G SNV Conflicting interpretations of pathogenicity 553134 rs898301590 2:219524871-219524871 2:218660148-218660148 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile) SNV Conflicting interpretations of pathogenicity 666656 2:219527716-219527716 2:218662993-218662993 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys) SNV Conflicting interpretations of pathogenicity 6171 rs121908578 2:219526571-219526571 2:218661848-218661848 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys) SNV Conflicting interpretations of pathogenicity 6174 rs144885874 2:219526568-219526568 2:218661845-218661845 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.320+1G>T SNV Conflicting interpretations of pathogenicity 56412 rs386833856 2:219526031-219526031 2:218661308-218661308 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.-43G>A SNV Conflicting interpretations of pathogenicity 214155 rs145989550 2:219525668-219525668 2:218660945-218660945 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.126A>G (p.Ala42=) SNV Conflicting interpretations of pathogenicity 214156 rs144200704 2:219525836-219525836 2:218661113-218661113 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.258T>C (p.His86=) SNV Conflicting interpretations of pathogenicity 334357 rs886055627 2:219525968-219525968 2:218661245-218661245 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.-14G>A SNV Conflicting interpretations of pathogenicity 334355 rs367721351 2:219525697-219525697 2:218660974-218660974 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys) SNV Conflicting interpretations of pathogenicity 214160 rs377025174 2:219525915-219525915 2:218661192-218661192 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile) SNV Conflicting interpretations of pathogenicity 214159 rs148278887 2:219526634-219526634 2:218661911-218661911 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter) SNV Conflicting interpretations of pathogenicity 214162 rs201454788 2:219527384-219527384 2:218662661-218662661 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.703G>A (p.Gly235Arg) SNV Conflicting interpretations of pathogenicity 265046 rs368486097 2:219526967-219526967 2:218662244-218662244 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.201C>T (p.Leu67=) SNV Conflicting interpretations of pathogenicity 290322 rs142540289 2:219525911-219525911 2:218661188-218661188 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.768C>G (p.Leu256=) SNV Conflicting interpretations of pathogenicity 334359 rs781666793 2:219527281-219527281 2:218662558-218662558 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.171C>T (p.Asp57=) SNV Conflicting interpretations of pathogenicity 380986 rs756932413 2:219525881-219525881 2:218661158-218661158 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.771G>A (p.Thr257=) SNV Conflicting interpretations of pathogenicity 384871 rs148302981 2:219527284-219527284 2:218662561-218662561 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.822G>A (p.Pro274=) SNV Conflicting interpretations of pathogenicity 334360 rs112329020 2:219527335-219527335 2:218662612-218662612 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.-50+425T>C SNV Uncertain significance 334353 rs886055625 2:219524891-219524891 2:218660168-218660168 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.321-12G>A SNV Uncertain significance 334358 rs776363896 2:219526117-219526117 2:218661394-218661394 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.-53G>T SNV Uncertain significance 334352 rs886055624 2:219524463-219524463 2:218659740-218659740 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.-50+458T>G SNV Uncertain significance 334354 rs188224298 2:219524924-219524924 2:218660201-218660201 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.112C>G (p.Leu38Val) SNV Uncertain significance 334356 rs886055626 2:219525822-219525822 2:218661099-218661099 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.-85G>A SNV Uncertain significance 898620 2:219524431-219524431 2:218659708-218659708 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.566A>G (p.Asn189Ser) SNV Uncertain significance 895700 2:219526587-219526587 2:218661864-218661864 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.-49-539T>A SNV Uncertain significance 56411 rs386833855 2:219525123-219525123 2:218660400-218660400 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.413C>T (p.Thr138Met) SNV Uncertain significance 551829 rs775793638 2:219526221-219526221 2:218661498-218661498 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.889+2dup duplication Uncertain significance 554238 rs1553597661 2:219527403-219527404 2:218662680-218662681 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.134G>A (p.Arg45His) SNV Uncertain significance 554577 rs754414354 2:219525844-219525844 2:218661121-218661121 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.255_257del (p.Gln85del) deletion Uncertain significance 556141 rs1553596345 2:219525963-219525965 2:218661240-218661242 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.1048_1050del (p.Lys350del) deletion Uncertain significance 551946 rs906812769 2:219527896-219527898 2:218663173-218663175 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.-50+1G>T SNV Uncertain significance 554713 rs1553595158 2:219524467-219524467 2:218659744-218659744 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.1196_1198dup (p.Tyr399dup) duplication Uncertain significance 557895 rs1553598193 2:219528042-219528043 2:218663319-218663320 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.-50+1G>A SNV Uncertain significance 556251 rs1553595158 2:219524467-219524467 2:218659744-218659744 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.-50+2T>G SNV Uncertain significance 556020 rs1553595166 2:219524468-219524468 2:218659745-218659745 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.607_615del (p.Arg203_Val205del) deletion Uncertain significance 551244 rs1553597114 2:219526625-219526633 2:218661902-218661910 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.291_293del (p.Val98del) deletion Uncertain significance 554754 rs1293818477 2:219526000-219526002 2:218661277-218661279 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn) SNV Benign/Likely benign 136502 rs58447305 2:219526649-219526649 2:218661926-218661926 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.142A>G (p.Met48Val) SNV Benign/Likely benign 214157 rs755305281 2:219525852-219525852 2:218661129-218661129 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.996C>T (p.Asn332=) SNV Benign 136503 rs33946522 2:219527712-219527712 2:218662989-218662989 GRC001 Gracile Syndrome BCS1L NM_001079866.2(BCS1L):c.1017T>C (p.Pro339=) SNV Benign 136505 rs35843327 2:219527866-219527866 2:218663143-218663143 GRC001 Gracile Syndrome CYBB NM_000397.3(CYBB):c.80_83del (p.Val27fs) deletion Pathogenic 495863 rs1556464554 X:37641373-37641376 X:37782120-37782123 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.1702G>A (p.Glu568Lys) SNV Pathogenic 533556 rs1556473119 X:37670159-37670159 X:37810906-37810906 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.781C>T (p.Gln261Ter) SNV Pathogenic 533558 rs1556469197 X:37658314-37658314 X:37799061-37799061 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.1011G>A (p.Trp337Ter) SNV Pathogenic 573596 rs1569479943 X:37663243-37663243 X:37803990-37803990 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.1466_1467del (p.Asn489fs) deletion Pathogenic 574178 rs1569480333 X:37668824-37668825 X:37809571-37809572 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.1313dup (p.Ile439fs) duplication Pathogenic 646067 X:37664415-37664416 X:37805162-37805163 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.1320C>G (p.Tyr440Ter) SNV Pathogenic 659169 X:37665645-37665645 X:37806392-37806392 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NC_000023.11:g.(?_37780009)_(37783620_?)del deletion Pathogenic 660681 X:37639262-37642873 X:37780009-37783620 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.1326C>A (p.Tyr442Ter) SNV Pathogenic 803963 X:37665651-37665651 X:37806398-37806398 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NC_000023.11:g.(?_37780009)_(37782203_?)del deletion Pathogenic 830772 X:37639262-37641456 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NC_000023.11:g.(?_37780009)_(37810937_?)del deletion Pathogenic 832747 X:37639262-37670190 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NC_000023.11:g.(?_37780009)_(38421102_?)del deletion Pathogenic 833460 X:37639262-38280355 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.1244C>A (p.Pro415His) SNV Pathogenic 10920 rs137854585 X:37664351-37664351 X:37805098-37805098 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.1166G>C (p.Gly389Ala) SNV Pathogenic 10921 rs137854586 X:37664273-37664273 X:37805020-37805020 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.625C>T (p.His209Tyr) SNV Pathogenic 10922 rs137854587 X:37655345-37655345 X:37796092-37796092 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.217C>T (p.Arg73Ter) SNV Pathogenic 10923 rs137854588 X:37642818-37642818 X:37783565-37783565 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.731G>C (p.Cys244Ser) SNV Pathogenic 10924 rs137854589 X:37658264-37658264 X:37799011-37799011 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.466G>A (p.Ala156Thr) SNV Pathogenic 10925 rs137854590 X:37653046-37653046 X:37793793-37793793 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.302A>G (p.His101Arg) SNV Pathogenic 10926 rs137854591 X:37651277-37651277 X:37792024-37792024 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.911C>G (p.Pro304Arg) SNV Pathogenic 10927 rs137854596 X:37663143-37663143 X:37803890-37803890 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB CYBB, EX12DEL deletion Pathogenic 10928 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.676C>T (p.Arg226Ter) SNV Pathogenic 10929 rs137854592 X:37658209-37658209 X:37798956-37798956 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.252+5G>A SNV Pathogenic 10930 X:37642858-37642858 X:37783605-37783605 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.1499A>G (p.Asp500Gly) SNV Pathogenic 10931 rs137854593 X:37668857-37668857 X:37809604-37809604 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.301C>T (p.His101Tyr) SNV Pathogenic 10932 rs137854594 X:37651276-37651276 X:37792023-37792023 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.252G>A (p.Ala84=) SNV Pathogenic 10933 rs387906485 X:37642853-37642853 X:37783600-37783600 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB CYBB, IN5, L1 INS insertion Pathogenic 10934 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.907C>A (p.His303Asn) SNV Pathogenic 10936 rs137854595 X:37663139-37663139 X:37803886-37803886 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB CYBB, IVS5, G-T, +978 SNV Pathogenic 10937 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB CYBB, EX4, L1 INS insertion Pathogenic 10938 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.45+6T>C SNV Pathogenic 10939 rs1569478551 X:37639381-37639381 X:37780128-37780128 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.90_92delinsGGT (p.Tyr30_Arg31delinsTer) indel Pathogenic 10940 rs387906486 X:37641385-37641387 X:37782132-37782134 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.388C>T (p.Arg130Ter) SNV Pathogenic 862779 X:37652968-37652968 X:37793715-37793715 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.446del (p.Asn149fs) deletion Pathogenic 847891 X:37653023-37653023 X:37793770-37793770 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.902_905TCAC[1] (p.His303fs) short repeat Pathogenic 842892 X:37663134-37663137 X:37803881-37803884 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.1245del (p.Phe416fs) deletion Pathogenic 843650 X:37664350-37664350 X:37805097-37805097 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.1609T>C (p.Cys537Arg) SNV Pathogenic 68386 rs151344454 X:37670066-37670066 X:37810813-37810813 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.868C>T (p.Arg290Ter) SNV Pathogenic 265091 rs886039337 X:37660572-37660572 X:37801319-37801319 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.742dup (p.Ile248fs) duplication Pathogenic 279796 rs886041194 X:37658269-37658270 X:37799016-37799017 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.607G>T (p.Glu203Ter) SNV Pathogenic/Likely pathogenic 35974 rs193922449 X:37655327-37655327 X:37796074-37796074 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.1152-1G>A SNV Likely pathogenic 841765 X:37664258-37664258 X:37805005-37805005 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.483+5G>A SNV Likely pathogenic 856932 X:37653068-37653068 X:37793815-37793815 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.15del (p.Ala5_Val6insTer) deletion Likely pathogenic 35969 rs193922446 X:37639345-37639345 X:37780092-37780092 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.66C>A (p.Asn22Lys) SNV Likely pathogenic 208503 rs193922450 X:37641361-37641361 X:37782108-37782108 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.1140dup (p.Lys381fs) duplication Likely pathogenic 35967 rs193922445 X:37663370-37663371 X:37804117-37804118 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NC_000023.11:g.(?_37810771)_(37810937_?)del deletion Likely pathogenic 830416 X:37670024-37670190 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.58G>A (p.Gly20Arg) SNV Likely pathogenic 861365 X:37641353-37641353 X:37782100-37782100 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.1139G>A (p.Trp380Ter) SNV Likely pathogenic 830059 X:37663371-37663371 X:37804118-37804118 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.45+2del deletion Likely pathogenic 664743 X:37639377-37639377 X:37780124-37780124 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.1085C>T (p.Thr362Ile) SNV Likely pathogenic 632782 rs1569479953 X:37663317-37663317 X:37804064-37804064 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.1237dup (p.Val413fs) duplication Likely pathogenic 623130 rs1569480031 X:37664340-37664341 X:37805087-37805088 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.1315-1G>A SNV Likely pathogenic 533555 rs1556471620 X:37665639-37665639 X:37806386-37806386 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.37_45+2del deletion Likely pathogenic 533560 rs1556464116 X:37639366-37639376 X:37780113-37780123 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.969A>G (p.Gln323=) SNV Conflicting interpretations of pathogenicity 625929 rs144764222 X:37663201-37663201 X:37803948-37803948 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.170C>A (p.Ala57Glu) SNV Conflicting interpretations of pathogenicity 68391 rs151344481 X:37642771-37642771 X:37783518-37783518 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.389G>C (p.Arg130Pro) SNV Conflicting interpretations of pathogenicity 35972 rs193922448 X:37652969-37652969 X:37793716-37793716 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.1601T>A (p.Val534Asp) SNV Uncertain significance 35970 rs151344478 X:37670058-37670058 X:37810805-37810805 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.338-13C>T SNV Uncertain significance 35971 rs193922447 X:37652905-37652905 X:37793652-37793652 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.1286A>G (p.Asn429Ser) SNV Uncertain significance 863855 X:37664393-37664393 X:37805140-37805140 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.1469A>C (p.His490Pro) SNV Uncertain significance 859876 X:37668827-37668827 X:37809574-37809574 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.1496A>C (p.Lys499Thr) SNV Uncertain significance 858051 X:37668854-37668854 X:37809601-37809601 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.1072G>A (p.Val358Ile) SNV Uncertain significance 853858 X:37663304-37663304 X:37804051-37804051 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.1085C>A (p.Thr362Lys) SNV Uncertain significance 859985 X:37663317-37663317 X:37804064-37804064 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.997T>C (p.Ser333Pro) SNV Uncertain significance 68415 rs151344469 X:37663229-37663229 X:37803976-37803976 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.805A>G (p.Thr269Ala) SNV Uncertain significance 578743 rs1569479706 X:37660509-37660509 X:37801256-37801256 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.455A>G (p.Tyr152Cys) SNV Uncertain significance 574537 rs1569479293 X:37653035-37653035 X:37793782-37793782 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.649A>C (p.Ile217Leu) SNV Uncertain significance 582113 rs1556468392 X:37655369-37655369 X:37796116-37796116 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.1249G>A (p.Ala417Thr) SNV Uncertain significance 425486 rs782094658 X:37664356-37664356 X:37805103-37805103 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.1462-7C>A SNV Uncertain significance 533557 rs371707791 X:37668813-37668813 X:37809560-37809560 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.322A>G (p.Ile108Val) SNV Uncertain significance 660983 X:37651297-37651297 X:37792044-37792044 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.662T>C (p.Ile221Thr) SNV Uncertain significance 643505 X:37655382-37655382 X:37796129-37796129 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.946G>C (p.Gly316Arg) SNV Uncertain significance 655529 X:37663178-37663178 X:37803925-37803925 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.1579C>T (p.His527Tyr) SNV Uncertain significance 661683 X:37668937-37668937 X:37809684-37809684 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.1689del (p.Phe563fs) deletion Uncertain significance 646155 X:37670146-37670146 X:37810893-37810893 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NC_000023.11:g.(?_37780009)_(37810937_?)dup duplication Uncertain significance 832406 X:37639262-37670190 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.187A>C (p.Asn63His) SNV Uncertain significance 835972 X:37642788-37642788 X:37783535-37783535 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.948G>T (p.Gly316=) SNV Likely benign 740506 X:37663180-37663180 X:37803927-37803927 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.297C>A (p.Thr99=) SNV Likely benign 756771 X:37651272-37651272 X:37792019-37792019 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.1137G>A (p.Ala379=) SNV Likely benign 752130 X:37663369-37663369 X:37804116-37804116 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.1365A>C (p.Ala455=) SNV Likely benign 753390 X:37665690-37665690 X:37806437-37806437 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.1369C>T (p.Leu457=) SNV Likely benign 766329 X:37665694-37665694 X:37806441-37806441 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.562T>C (p.Leu188=) SNV Likely benign 795013 X:37655282-37655282 X:37796029-37796029 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.1314+7C>G SNV Likely benign 793998 X:37664428-37664428 X:37805175-37805175 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.66C>T (p.Asn22=) SNV Likely benign 35976 rs193922450 X:37641361-37641361 X:37782108-37782108 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.1090G>C (p.Gly364Arg) SNV Benign/Likely benign 68372 rs141756032 X:37663322-37663322 X:37804069-37804069 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.1551T>A (p.Asp517Glu) SNV Benign/Likely benign 68385 rs151344452 X:37668909-37668909 X:37809656-37809656 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.46-7T>C SNV Benign/Likely benign 35973 rs182039020 X:37641334-37641334 X:37782081-37782081 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.654C>A (p.Gly218=) SNV Benign/Likely benign 35975 rs35080474 X:37655374-37655374 X:37796121-37796121 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.1158G>A (p.Ala386=) SNV Benign 756010 X:37664265-37664265 X:37805012-37805012 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.1300C>T (p.Leu434=) SNV Benign 752677 X:37664407-37664407 X:37805154-37805154 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.855G>A (p.Leu285=) SNV Benign 761350 X:37660559-37660559 X:37801306-37801306 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.1314+19C>T SNV Benign 35968 rs34834015 X:37664440-37664440 X:37805187-37805187 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.6G>C (p.Gly2=) SNV Benign 788249 X:37639336-37639336 X:37780083-37780083 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.1032C>G (p.Ser344=) SNV Benign 716689 X:37663264-37663264 X:37804011-37804011 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.1689C>T (p.Phe563=) SNV Benign 710493 X:37670146-37670146 X:37810893-37810893 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.30C>T (p.Leu10=) SNV Benign 726829 X:37639360-37639360 X:37780107-37780107 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.1203T>C (p.Tyr401=) SNV Benign 733145 X:37664310-37664310 X:37805057-37805057 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.4(CYBB):c.1414G>A (p.Gly472Ser) SNV Benign 732210 X:37665739-37665739 X:37806486-37806486 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.686G>A (p.Arg229His) SNV Benign 533561 rs139670417 X:37658219-37658219 X:37798966-37798966 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.1159G>A (p.Val387Ile) SNV Benign 533559 rs145620748 X:37664266-37664266 X:37805013-37805013 GRN051 Granulomatous Disease, Chronic, X-Linked CYBB NM_000397.3(CYBB):c.1002G>A (p.Lys334=) SNV Benign 464971 rs2228117 X:37663234-37663234 X:37803981-37803981 GRN051 Granulomatous Disease, Chronic, X-Linked ATP1A3 NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) SNV Pathogenic 37108 rs387907281 19:42474436-42474436 19:41970284-41970284 HMP005 Hemiplegia ATP1A3 NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) SNV Pathogenic 37110 rs398122887 19:42471896-42471896 19:41967744-41967744 HMP005 Hemiplegia ATP1A3 NM_152296.5(ATP1A3):c.958G>C (p.Ala320Pro) SNV Likely pathogenic 523558 rs879255368 19:42489105-42489105 19:41984953-41984953 HMP005 Hemiplegia MYH6 NM_002471.4(MYH6):c.3195G>C (p.Gln1065His) SNV Conflicting interpretations of pathogenicity 14149 rs267606904 14:23862177-23862177 14:23392968-23392968 HMP005 Hemiplegia DSP NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) SNV Conflicting interpretations of pathogenicity 44926 rs142885240 6:7581641-7581641 6:7581408-7581408 HMP005 Hemiplegia MYH6 NM_002471.3(MYH6):c.4594C>T (p.Arg1532Cys) SNV Conflicting interpretations of pathogenicity 239175 rs201827489 14:23856794-23856794 14:23387585-23387585 HMP005 Hemiplegia SCN5A NM_000335.5(SCN5A):c.892G>A (p.Gly298Ser) SNV Uncertain significance 9387 rs137854608 3:38651267-38651267 3:38609776-38609776 HMP005 Hemiplegia HFE NM_000410.3(HFE):c.892G>T (p.Glu298Ter) SNV Pathogenic 407073 rs749553271 6:26093188-26093188 6:26092960-26092960 HMC039 Hemochromatosis, Type 1 HFE NM_139003.3(HFE):c.340+415_340+416del deletion Pathogenic 407079 rs765804978 6:26091747-26091748 6:26091519-26091520 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.253del (p.Leu85fs) deletion Pathogenic 461198 rs1426704853 7:100238632-100238632 7:100641009-100641009 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1398del (p.Arg468fs) deletion Pathogenic 461197 rs773050231 7:100225922-100225922 7:100628299-100628299 HMC039 Hemochromatosis, Type 1 HFE NM_139011.3(HFE):c.77-289del deletion Pathogenic 530393 rs1554154042 6:26093056-26093056 6:26092828-26092828 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1870C>T (p.Gln624Ter) SNV Pathogenic 582071 rs1220336558 7:100225012-100225012 7:100627389-100627389 HMC039 Hemochromatosis, Type 1 TFR2 NC_000007.14:g.(?_100640680)_(100641515_?)del deletion Pathogenic 583971 7:100238303-100239138 7:100640680-100641515 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1746del (p.Val583fs) deletion Pathogenic 581375 rs1562838535 7:100225221-100225221 7:100627598-100627598 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1409G>T (p.Ser470Ile) SNV Pathogenic 577309 rs772104483 7:100225911-100225911 7:100628288-100628288 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.401_402dup (p.Leu135fs) duplication Pathogenic 652249 7:100238379-100238380 7:100640756-100640757 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.2038dup (p.Asp680fs) duplication Pathogenic 854136 7:100224483-100224484 7:100626860-100626861 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.2025C>G (p.Tyr675Ter) SNV Pathogenic 839335 7:100224497-100224497 7:100626874-100626874 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1811dup (p.Tyr604Ter) duplication Pathogenic 857035 7:100225070-100225071 7:100627447-100627448 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1629del (p.Gln544fs) deletion Pathogenic 834979 7:100225420-100225420 7:100627797-100627797 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1163del (p.Pro388fs) deletion Pathogenic 850883 7:100228619-100228619 7:100630996-100630996 HMC039 Hemochromatosis, Type 1 SLC40A1 NM_014585.6(SLC40A1):c.430A>G (p.Asn144Asp) SNV Pathogenic 801843 2:190436525-190436525 2:189571799-189571799 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.2101C>T (p.Arg701Ter) SNV Pathogenic 802342 7:100224421-100224421 7:100626798-100626798 HMC039 Hemochromatosis, Type 1 TFR2 NC_000007.14:g.(?_100640676)_(100641519_?)del deletion Pathogenic 831039 7:100238299-100239142 HMC039 Hemochromatosis, Type 1 HFE NM_139003.3(HFE):c.340+250A>C SNV Pathogenic 17 rs28934595 6:26091582-26091582 6:26091354-26091354 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.989G>T (p.Arg330Met) SNV Pathogenic 18 rs111033558 6:26093443-26093443 6:26093215-26093215 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.848A>C (p.Gln283Pro) SNV Pathogenic 19 rs111033563 6:26093144-26093144 6:26092916-26092916 HMC039 Hemochromatosis, Type 1 HJV NM_213653.3(HJV):c.959G>T (p.Gly320Val) SNV Pathogenic 2365 rs74315323 1:145416614-145416614 1:146018399-146018399 HMC039 Hemochromatosis, Type 1 HJV NM_145277.5(HJV):c.624C>A (p.Cys208Ter) SNV Pathogenic 2371 rs121434374 1:145416618-145416618 1:146018395-146018395 HMC039 Hemochromatosis, Type 1 HFE NM_139007.3(HFE):c.77-236T>C SNV Pathogenic 12 rs28934596 6:26091306-26091306 6:26091078-26091078 HMC039 Hemochromatosis, Type 1 HFE NM_139007.3(HFE):c.77-273G>C SNV Pathogenic 13 rs28934597 6:26091269-26091269 6:26091041-26091041 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.502G>T (p.Glu168Ter) SNV Pathogenic 88946 rs146519482 6:26091703-26091703 6:26091475-26091475 HMC039 Hemochromatosis, Type 1 HAMP NM_021175.4(HAMP):c.216C>A (p.Cys72Ter) SNV Pathogenic 188077 rs763369315 19:35775906-35775906 19:35285003-35285003 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.506G>A (p.Trp169Ter) SNV Pathogenic 208985 rs797045145 6:26091707-26091707 6:26091479-26091479 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.2033G>C (p.Arg678Pro) SNV Likely pathogenic 188153 rs786204108 7:100224489-100224489 7:100626866-100626866 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.2343G>A (p.Trp781Ter) SNV Likely pathogenic 859038 7:100218543-100218543 7:100620920-100620920 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1270+1G>C SNV Likely pathogenic 845642 7:100228511-100228511 7:100630888-100630888 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.341-1G>A SNV Likely pathogenic 845767 6:26091541-26091541 6:26091313-26091313 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.77-2_78delinsTGGAGTC indel Likely pathogenic 633265 rs1561939338 6:26091067-26091070 6:26090839-26090842 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.614+1G>C SNV Likely pathogenic 657099 7:100231038-100231038 7:100633415-100633415 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1606-2A>G SNV Likely pathogenic 570407 rs750609759 7:100225445-100225445 7:100627822-100627822 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1127C>A (p.Ala376Asp) SNV Conflicting interpretations of pathogenicity 461196 rs41303495 7:100228655-100228655 7:100631032-100631032 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1097G>A (p.Arg366His) SNV Conflicting interpretations of pathogenicity 530395 rs184812195 7:100229438-100229438 7:100631815-100631815 HMC039 Hemochromatosis, Type 1 HAMP NM_021175.4(HAMP):c.150+7G>A SNV Conflicting interpretations of pathogenicity 414002 rs201587159 19:35775758-35775758 19:35284855-35284855 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.884T>C (p.Val295Ala) SNV Conflicting interpretations of pathogenicity 461195 rs143175221 6:26093180-26093180 6:26092952-26092952 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.21G>A (p.Pro7=) SNV Conflicting interpretations of pathogenicity 414267 rs114758821 6:26087689-26087689 6:26087461-26087461 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1767+7C>T SNV Conflicting interpretations of pathogenicity 415943 rs41295912 7:100225193-100225193 7:100627570-100627570 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.2278G>A (p.Gly760Arg) SNV Conflicting interpretations of pathogenicity 695413 7:100218608-100218608 7:100620985-100620985 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1920C>T (p.Pro640=) SNV Conflicting interpretations of pathogenicity 697146 7:100224962-100224962 7:100627339-100627339 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1620C>T (p.Asn540=) SNV Conflicting interpretations of pathogenicity 695828 7:100225429-100225429 7:100627806-100627806 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.2014C>T (p.Gln672Ter) SNV Conflicting interpretations of pathogenicity 632495 rs1051249273 7:100224508-100224508 7:100626885-100626885 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.303C>T (p.Tyr101=) SNV Conflicting interpretations of pathogenicity 695178 7:100238479-100238479 7:100640856-100640856 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.727-9T>A SNV Conflicting interpretations of pathogenicity 695305 7:100230755-100230755 7:100633132-100633132 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.473+8T>A SNV Conflicting interpretations of pathogenicity 695306 7:100238301-100238301 7:100640678-100640678 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.906G>A (p.Ala302=) SNV Conflicting interpretations of pathogenicity 701342 7:100229765-100229765 7:100632142-100632142 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) SNV Conflicting interpretations of pathogenicity, other 9 rs1800562 6:26093141-26093141 6:26092913-26092913 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.187C>G (p.His63Asp) SNV Conflicting interpretations of pathogenicity, other 10 rs1799945 6:26091179-26091179 6:26090951-26090951 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.224C>T (p.Ala75Val) SNV Conflicting interpretations of pathogenicity 21373 rs41302357 7:100238661-100238661 7:100641038-100641038 HMC039 Hemochromatosis, Type 1 HAMP NM_021175.4(HAMP):c.212G>A (p.Gly71Asp) SNV Conflicting interpretations of pathogenicity 4286 rs104894696 19:35775902-35775902 19:35284999-35284999 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1364G>A (p.Arg455Gln) SNV Conflicting interpretations of pathogenicity 5383 rs41303501 7:100226902-100226902 7:100629279-100629279 HMC039 Hemochromatosis, Type 1 HAMP NM_021175.4(HAMP):c.92C>T (p.Thr31Met) SNV Conflicting interpretations of pathogenicity 216876 rs146776859 19:35775693-35775693 19:35284790-35284790 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1995+9G>C SNV Conflicting interpretations of pathogenicity 221011 rs41295921 7:100224878-100224878 7:100627255-100627255 HMC039 Hemochromatosis, Type 1 HAMP NM_021175.4(HAMP):c.252G>A (p.Thr84=) SNV Conflicting interpretations of pathogenicity 219770 rs150121265 19:35775942-35775942 19:35285039-35285039 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.1026C>T (p.Tyr342=) SNV Conflicting interpretations of pathogenicity 237780 rs35201683 6:26094433-26094433 6:26094205-26094205 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1473G>A (p.Glu491=) SNV Conflicting interpretations of pathogenicity 239513 rs139178017 7:100225847-100225847 7:100628224-100628224 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.68G>A (p.Arg23His) SNV Conflicting interpretations of pathogenicity 356194 rs148161858 6:26087736-26087736 6:26087508-26087508 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1504G>A (p.Val502Ile) SNV Conflicting interpretations of pathogenicity 358289 rs150618729 7:100225729-100225729 7:100628106-100628106 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.829G>A (p.Glu277Lys) SNV Conflicting interpretations of pathogenicity 356196 rs140080192 6:26093125-26093125 6:26092897-26092897 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.2367G>A (p.Ala789=) SNV Conflicting interpretations of pathogenicity 358283 rs374766778 7:100218519-100218519 7:100620896-100620896 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1682+9G>T SNV Conflicting interpretations of pathogenicity 358287 rs41295906 7:100225358-100225358 7:100627735-100627735 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.2172A>G (p.Pro724=) SNV Conflicting interpretations of pathogenicity 358286 rs141140309 7:100218714-100218714 7:100621091-100621091 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.726+9C>T SNV Conflicting interpretations of pathogenicity 358295 rs372020405 7:100230843-100230843 7:100633220-100633220 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.*301C>A SNV Uncertain significance 356199 rs373610457 6:26094755-26094755 6:26094527-26094527 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.707C>T (p.Thr236Ile) SNV Uncertain significance 356195 rs557062229 6:26093003-26093003 6:26092775-26092775 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.*296A>T SNV Uncertain significance 356198 rs62625350 6:26094750-26094750 6:26094522-26094522 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.*801T>C SNV Uncertain significance 356205 rs62625356 6:26095255-26095255 6:26095027-26095027 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.*871C>T SNV Uncertain significance 356206 rs62625357 6:26095325-26095325 6:26095097-26095097 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.*417C>T SNV Uncertain significance 356200 rs118079331 6:26094871-26094871 6:26094643-26094643 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.*517A>G SNV Uncertain significance 356201 rs886061283 6:26094971-26094971 6:26094743-26094743 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.*988G>A SNV Uncertain significance 356208 rs143278243 6:26095442-26095442 6:26095214-26095214 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.*991C>T SNV Uncertain significance 356209 rs148307737 6:26095445-26095445 6:26095217-26095217 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.479C>T (p.Thr160Ile) SNV Uncertain significance 358299 rs746602701 7:100231174-100231174 7:100633551-100633551 HMC039 Hemochromatosis, Type 1 SLC40A1 NM_014585.5(SLC40A1):c.-318_-310dupCGGCGGCGG short repeat Uncertain significance 333181 rs3833570 2:190445495-190445496 2:189580769-189580770 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.*155C>T SNV Uncertain significance 356197 rs192228238 6:26094609-26094609 6:26094381-26094381 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.*578T>C SNV Uncertain significance 356202 rs539558655 6:26095032-26095032 6:26094804-26094804 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.*625C>T SNV Uncertain significance 356203 rs538372302 6:26095079-26095079 6:26094851-26094851 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.*746G>T SNV Uncertain significance 356204 rs62625355 6:26095200-26095200 6:26094972-26094972 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.*957T>C SNV Uncertain significance 356207 rs886061284 6:26095411-26095411 6:26095183-26095183 HMC039 Hemochromatosis, Type 1 HAMP NM_021175.4(HAMP):c.175C>G (p.Arg59Gly) SNV Uncertain significance 241375 rs779021719 19:35775865-35775865 19:35284962-35284962 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.2269G>A (p.Gly757Arg) SNV Uncertain significance 239514 rs774907552 7:100218617-100218617 7:100620994-100620994 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.840C>G (p.Phe280Leu) SNV Uncertain significance 287086 rs151198873 7:100230633-100230633 7:100633010-100633010 HMC039 Hemochromatosis, Type 1 SLC40A1 NM_014585.5(SLC40A1):c.*420_*421del deletion Uncertain significance 333157 rs761349130 2:190426183-190426184 2:189561457-189561458 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.200G>T (p.Arg67Leu) SNV Uncertain significance 222650 rs139523708 6:26091192-26091192 6:26090964-26090964 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.502G>C (p.Glu168Gln) SNV Uncertain significance 222651 rs146519482 6:26091703-26091703 6:26091475-26091475 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.665A>T (p.Glu222Val) SNV Uncertain significance 220212 rs763919775 7:100230913-100230913 7:100633290-100633290 HMC039 Hemochromatosis, Type 1 HAMP NM_021175.4(HAMP):c.150+6C>T SNV Uncertain significance 219838 rs375386964 19:35775757-35775757 19:35284854-35284854 HMC039 Hemochromatosis, Type 1 SLC40A1 NM_014585.6(SLC40A1):c.695C>A (p.Ala232Asp) SNV Uncertain significance 801842 2:190430145-190430145 2:189565419-189565419 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.2246G>A (p.Arg749Gln) SNV Uncertain significance 219806 rs369355407 7:100218640-100218640 7:100621017-100621017 HMC039 Hemochromatosis, Type 1 HAMP NM_021175.4(HAMP):c.218G>A (p.Cys73Tyr) SNV Uncertain significance 216732 rs863224779 19:35775908-35775908 19:35285005-35285005 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.18G>C (p.Arg6Ser) SNV Uncertain significance 216425 rs149342416 6:26087686-26087686 6:26087458-26087458 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1403G>A (p.Arg468His) SNV Uncertain significance 21365 rs80338885 7:100225917-100225917 7:100628294-100628294 HMC039 Hemochromatosis, Type 1 HFE NM_139007.3(HFE):c.77-375G>A SNV Uncertain significance 16 rs111033557 6:26091167-26091167 6:26090939-26090939 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.829G>T (p.Val277Leu) SNV Uncertain significance 188294 rs754813237 7:100230644-100230644 7:100633021-100633021 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.193A>T (p.Ser65Cys) SNV Uncertain significance 11 rs1800730 6:26091185-26091185 6:26090957-26090957 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.-96G>C SNV Uncertain significance 906710 6:26087573-26087573 6:26087345-26087345 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.-7T>C SNV Uncertain significance 906712 6:26087662-26087662 6:26087434-26087434 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.40C>G (p.Leu14Val) SNV Uncertain significance 907724 6:26087708-26087708 6:26087480-26087480 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.670C>T (p.Arg224Trp) SNV Uncertain significance 907725 6:26092966-26092966 6:26092738-26092738 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.*61C>T SNV Uncertain significance 904396 6:26094515-26094515 6:26094287-26094287 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.*120C>T SNV Uncertain significance 904397 6:26094574-26094574 6:26094346-26094346 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.*198C>T SNV Uncertain significance 904398 6:26094652-26094652 6:26094424-26094424 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.*199G>A SNV Uncertain significance 904399 6:26094653-26094653 6:26094425-26094425 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.*281C>T SNV Uncertain significance 905190 6:26094735-26094735 6:26094507-26094507 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.*403T>C SNV Uncertain significance 905191 6:26094857-26094857 6:26094629-26094629 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.*426T>C SNV Uncertain significance 905192 6:26094880-26094880 6:26094652-26094652 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.*459C>T SNV Uncertain significance 905193 6:26094913-26094913 6:26094685-26094685 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.*603C>T SNV Uncertain significance 906791 6:26095057-26095057 6:26094829-26094829 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.*744G>C SNV Uncertain significance 906792 6:26095198-26095198 6:26094970-26094970 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.*838T>C SNV Uncertain significance 906793 6:26095292-26095292 6:26095064-26095064 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.*918A>G SNV Uncertain significance 907776 6:26095372-26095372 6:26095144-26095144 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.1006+14A>G SNV Uncertain significance 904395 6:26093474-26093474 6:26093246-26093246 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.616+6G>A SNV Uncertain significance 530398 rs202027115 6:26091823-26091823 6:26091595-26091595 HMC039 Hemochromatosis, Type 1 HAMP NM_021175.4(HAMP):c.155T>C (p.Met52Thr) SNV Uncertain significance 641643 19:35775845-35775845 19:35284942-35284942 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.2002G>A (p.Gly668Arg) SNV Uncertain significance 652902 7:100224520-100224520 7:100626897-100626897 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1876G>A (p.Ala626Thr) SNV Uncertain significance 639261 7:100225006-100225006 7:100627383-100627383 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1861G>C (p.Ala621Pro) SNV Uncertain significance 652029 7:100225021-100225021 7:100627398-100627398 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1640A>T (p.Tyr547Phe) SNV Uncertain significance 648893 7:100225409-100225409 7:100627786-100627786 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1300G>A (p.Asp434Asn) SNV Uncertain significance 663127 7:100226966-100226966 7:100629343-100629343 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1771G>C (p.Asp591His) SNV Uncertain significance 410077 rs1060502723 7:100225111-100225111 7:100627488-100627488 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1528G>A (p.Ala510Thr) SNV Uncertain significance 410076 rs200053955 7:100225705-100225705 7:100628082-100628082 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.2036G>A (p.Gly679Glu) SNV Uncertain significance 410078 rs1060502724 7:100224486-100224486 7:100626863-100626863 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.50C>T (p.Thr17Ile) SNV Uncertain significance 461193 rs143662783 6:26087718-26087718 6:26087490-26087490 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.389A>G (p.Asn130Ser) SNV Uncertain significance 461191 rs201885016 6:26091590-26091590 6:26091362-26091362 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.1010G>T (p.Gly337Val) SNV Uncertain significance 461190 rs751707198 6:26094417-26094417 6:26094189-26094189 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.766G>A (p.Val256Ile) SNV Uncertain significance 461194 rs202068193 6:26093062-26093062 6:26092834-26092834 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1129C>T (p.Pro377Ser) SNV Uncertain significance 530394 rs778433259 7:100228653-100228653 7:100631030-100631030 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1118G>A (p.Gly373Asp) SNV Uncertain significance 576868 rs202221581 7:100228664-100228664 7:100631041-100631041 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.676C>T (p.Arg226Trp) SNV Uncertain significance 632481 rs781516027 6:26092972-26092972 6:26092744-26092744 HMC039 Hemochromatosis, Type 1 TFR2 NC_000007.13:g.(?_100218474)_(100227001_?)dup duplication Uncertain significance 584337 7:100218474-100227001 7:100620851-100629378 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.622C>A (p.Pro208Thr) SNV Uncertain significance 573282 rs866376221 6:26092918-26092918 6:26092690-26092690 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.2111G>T (p.Arg704Leu) SNV Uncertain significance 578418 rs1562837528 7:100224411-100224411 7:100626788-100626788 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.915C>G (p.Ser305=) SNV Likely benign 530397 rs555372856 7:100229756-100229756 7:100632133-100632133 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.474-6G>T SNV Likely benign 461199 rs780713293 7:100231185-100231185 7:100633562-100633562 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.2289C>T (p.Ser763=) SNV Likely benign 530399 rs374915672 7:100218597-100218597 7:100620974-100620974 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1149C>T (p.Ser383=) SNV Likely benign 530396 rs757050571 7:100228633-100228633 7:100631010-100631010 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.396C>T (p.Thr132=) SNV Likely benign 461192 rs369790080 6:26091597-26091597 6:26091369-26091369 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.590A>G (p.Tyr197Cys) SNV Likely benign 415945 rs187119131 7:100231063-100231063 7:100633440-100633440 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.2389A>G (p.Ile797Val) SNV Likely benign 415944 rs41296645 7:100218497-100218497 7:100620874-100620874 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.374A>C (p.Glu125Ala) SNV Likely benign 697013 7:100238408-100238408 7:100640785-100640785 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.330G>A (p.Ala110=) SNV Likely benign 696682 7:100238452-100238452 7:100640829-100640829 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1812T>C (p.Tyr604=) SNV Likely benign 696246 7:100225070-100225070 7:100627447-100627447 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1762A>T (p.Met588Leu) SNV Likely benign 696030 7:100225205-100225205 7:100627582-100627582 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.2226C>T (p.Gly742=) SNV Likely benign 695742 7:100218660-100218660 7:100621037-100621037 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.2346G>A (p.Thr782=) SNV Likely benign 695830 7:100218540-100218540 7:100620917-100620917 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.287-5G>A SNV Likely benign 696292 7:100238500-100238500 7:100640877-100640877 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.2163C>T (p.Tyr721=) SNV Likely benign 702052 7:100218723-100218723 7:100621100-100621100 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.2091G>A (p.Glu697=) SNV Likely benign 698307 7:100224431-100224431 7:100626808-100626808 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1179C>T (p.Pro393=) SNV Likely benign 700889 7:100228603-100228603 7:100630980-100630980 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.614+8C>A SNV Likely benign 696938 7:100231031-100231031 7:100633408-100633408 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.2136+9C>A SNV Likely benign 698356 7:100224377-100224377 7:100626754-100626754 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1996-4C>T SNV Likely benign 700957 7:100224530-100224530 7:100626907-100626907 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1767+7C>G SNV Likely benign 699682 7:100225193-100225193 7:100627570-100627570 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.727-6C>T SNV Likely benign 700923 7:100230752-100230752 7:100633129-100633129 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.867G>C (p.Leu289=) SNV Likely benign 705157 6:26093163-26093163 6:26092935-26092935 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.177T>C (p.Pro59=) SNV Likely benign 703402 7:100238708-100238708 7:100641085-100641085 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.2400C>T (p.Asn800=) SNV Likely benign 755472 7:100218486-100218486 7:100620863-100620863 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.705C>T (p.Tyr235=) SNV Likely benign 760422 7:100230873-100230873 7:100633250-100633250 HMC039 Hemochromatosis, Type 1 HAMP NM_021175.4(HAMP):c.151-10C>T SNV Likely benign 784735 19:35775831-35775831 19:35284928-35284928 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1062C>T (p.Ile354=) SNV Likely benign 799601 7:100229473-100229473 7:100631850-100631850 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.417C>T (p.Asp139=) SNV Likely benign 799913 7:100238365-100238365 7:100640742-100640742 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.2136+10C>T SNV Likely benign 799997 7:100224376-100224376 7:100626753-100626753 HMC039 Hemochromatosis, Type 1 HAMP NM_021175.4(HAMP):c.54C>T (p.Leu18=) SNV Likely benign 215916 rs145846674 19:35773534-35773534 19:35282631-35282631 HMC039 Hemochromatosis, Type 1 SLC40A1 NM_014585.5(SLC40A1):c.271+10_271+12del short repeat Likely benign 333173 rs768786843 2:190439875-190439877 2:189575149-189575151 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1249A>G (p.Ile417Val) SNV Likely benign 358292 rs141101651 7:100228533-100228533 7:100630910-100630910 HMC039 Hemochromatosis, Type 1 SLC40A1 NM_014585.5(SLC40A1):c.*735dup duplication Likely benign 333155 rs565741596 2:190425868-190425869 2:189561142-189561143 HMC039 Hemochromatosis, Type 1 SLC40A1 NM_014585.5(SLC40A1):c.-354G>T SNV Likely benign 369321 rs571127353 2:190445540-190445540 2:189580814-189580814 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.447G>A (p.Gly149=) SNV Benign/Likely benign 358300 rs41302366 7:100238335-100238335 7:100640712-100640712 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.2085G>C (p.Ser695=) SNV Benign/Likely benign 220387 rs150303632 7:100224437-100224437 7:100626814-100626814 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.189T>C (p.His63=) SNV Benign/Likely benign 219411 rs147426902 6:26091181-26091181 6:26090953-26090953 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.2255G>A (p.Arg752His) SNV Benign/Likely benign 221188 rs41295942 7:100218631-100218631 7:100621008-100621008 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.340+4T>C SNV Benign/Likely benign 129225 rs2071303 6:26091336-26091336 6:26091108-26091108 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.714C>G (p.Ile238Met) SNV Benign 21378 rs34242818 7:100230864-100230864 7:100633241-100633241 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1770C>T (p.Asp590=) SNV Benign 21368 rs35704760 7:100225112-100225112 7:100627489-100627489 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1851C>T (p.Ala617=) SNV Benign 21369 rs2075674 7:100225031-100225031 7:100627408-100627408 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.135G>A (p.Ala45=) SNV Benign 215505 rs141968146 7:100238750-100238750 7:100641127-100641127 HMC039 Hemochromatosis, Type 1 HFE NM_000410.3(HFE):c.-48C>G SNV Benign 906711 6:26087621-26087621 6:26087393-26087393 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.225G>A (p.Ala75=) SNV Benign 698441 7:100238660-100238660 7:100641037-100641037 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.2137-5C>T SNV Benign 696273 7:100218754-100218754 7:100621131-100621131 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1682+9G>C SNV Benign 696152 7:100225358-100225358 7:100627735-100627735 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1941G>T (p.Gly647=) SNV Benign 530400 rs111760099 7:100224941-100224941 7:100627318-100627318 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.849+6T>A SNV Benign 358294 rs41303468 7:100230618-100230618 7:100632995-100632995 HMC039 Hemochromatosis, Type 1 SLC40A1 NM_014585.5(SLC40A1):c.-315_-310dupCGGCGG short repeat Benign 333180 rs3833570 2:190445495-190445496 2:189580769-189580770 HMC039 Hemochromatosis, Type 1 TFR2 NM_003227.4(TFR2):c.1449C>T (p.Ser483=) SNV Benign 258986 rs41295899 7:100225871-100225871 7:100628248-100628248 HMC039 Hemochromatosis, Type 1 SLC40A1 NM_014585.5(SLC40A1):c.-312_-310dupCGG short repeat Benign 333179 rs3833570 2:190445495-190445496 2:189580769-189580770 HMC039 Hemochromatosis, Type 1 SPAST NM_014946.3(SPAST):c.1133T>A (p.Leu378Gln) SNV Pathogenic 424653 rs1553316816 2:32352051-32352051 2:32126982-32126982 HRD010 Hereditary Spastic Paraplegia SPG7 NM_003119.4(SPG7):c.1053dup (p.Gly352fs) duplication Pathogenic 411675 rs760818649 16:89598370-89598371 16:89531962-89531963 HRD010 Hereditary Spastic Paraplegia KY NM_178554.6(KY):c.51_52insTATCGACATGTGCTGTATCTATCGACAT (p.Val18fs) insertion Pathogenic 402246 rs1085307110 3:134369751-134369752 3:134650909-134650910 HRD010 Hereditary Spastic Paraplegia KIF5A NM_004984.4(KIF5A):c.610C>T (p.Arg204Trp) SNV Pathogenic 424651 rs1555177629 12:57961297-57961297 12:57567514-57567514 HRD010 Hereditary Spastic Paraplegia CYP7B1 NM_004820.5(CYP7B1):c.914dup (p.Met305fs) duplication Pathogenic 424649 rs1554524697 8:65527725-65527726 8:64615168-64615169 HRD010 Hereditary Spastic Paraplegia ZFYVE26 NM_015346.4(ZFYVE26):c.6296dup (p.Asn2100fs) duplication Pathogenic 424650 rs1555394376 14:68228992-68228993 14:67762275-67762276 HRD010 Hereditary Spastic Paraplegia SPG11 NM_025137.3(SPG11):c.(2244+1_2245-1)_(2620+1_2621-1)del deletion Pathogenic 424655 HRD010 Hereditary Spastic Paraplegia SPG11 NM_025137.4(SPG11):c.3711dup (p.Tyr1238fs) duplication Pathogenic 466523 rs750663981 15:44891009-44891010 15:44598811-44598812 HRD010 Hereditary Spastic Paraplegia SPG7 NM_003119.4(SPG7):c.771_772TG[1] (p.Val258fs) short repeat Pathogenic 504920 rs768136171 16:89595899-89595900 16:89529489-89529490 HRD010 Hereditary Spastic Paraplegia SPG11 NM_025137.4(SPG11):c.733_734del (p.Met245fs) deletion Pathogenic 1112 rs312262720 15:44949428-44949429 15:44657230-44657231 HRD010 Hereditary Spastic Paraplegia NIPA1 NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg) SNV Pathogenic 2523 rs104894490 15:23060816-23060816 15:22812252-22812252 HRD010 Hereditary Spastic Paraplegia CYP7B1 NM_004820.5(CYP7B1):c.825T>A (p.Tyr275Ter) SNV Pathogenic 6105 rs121908613 8:65528273-65528273 8:64615716-64615716 HRD010 Hereditary Spastic Paraplegia GBA2 NM_020944.3(GBA2):c.1888C>T (p.Arg630Trp) SNV Pathogenic/Likely pathogenic 41485 rs398123012 9:35738808-35738808 9:35738811-35738811 HRD010 Hereditary Spastic Paraplegia GBA2 NM_020944.3(GBA2):c.2618G>A (p.Arg873His) SNV Pathogenic/Likely pathogenic 41490 rs398123015 9:35737332-35737332 9:35737335-35737335 HRD010 Hereditary Spastic Paraplegia KIF1A NM_004321.7(KIF1A):c.206C>T (p.Ser69Leu) SNV Pathogenic/Likely pathogenic 188057 rs786200949 2:241727625-241727625 2:240788208-240788208 HRD010 Hereditary Spastic Paraplegia C19orf12 NM_001256047.1(C19orf12):c.124G>A (p.Gly42Arg) SNV Pathogenic/Likely pathogenic 183298 rs200133991 19:30199197-30199197 19:29708290-29708290 HRD010 Hereditary Spastic Paraplegia SPG7 NM_003119.4(SPG7):c.1447C>T (p.Gln483Ter) SNV Pathogenic/Likely pathogenic 390378 rs562890289 16:89611178-89611178 16:89544770-89544770 HRD010 Hereditary Spastic Paraplegia SPG7 NM_003119.4(SPG7):c.376G>C (p.Glu126Gln) SNV Pathogenic/Likely pathogenic 424654 rs912983346 16:89579445-89579445 16:89513037-89513037 HRD010 Hereditary Spastic Paraplegia SPG7 NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) deletion Pathogenic/Likely pathogenic 411680 rs768823392 16:89613065-89613073 16:89546657-89546665 HRD010 Hereditary Spastic Paraplegia ERLIN2 NM_007175.8(ERLIN2):c.899A>T (p.Asp300Val) SNV Likely pathogenic 424656 rs763958615 8:37611512-37611512 8:37753994-37753994 HRD010 Hereditary Spastic Paraplegia REEP1 NM_001371279.1(REEP1):c.58G>C (p.Ala20Pro) SNV Likely pathogenic 424660 rs1266102026 2:86509340-86509340 2:86282217-86282217 HRD010 Hereditary Spastic Paraplegia KIF5A NM_004984.4(KIF5A):c.833C>T (p.Pro278Leu) SNV Likely pathogenic 424658 rs1555177824 12:57963052-57963052 12:57569269-57569269 HRD010 Hereditary Spastic Paraplegia KIF5A NM_004984.4(KIF5A):c.868G>C (p.Asp290His) SNV Likely pathogenic 424659 rs1555177831 12:57963087-57963087 12:57569304-57569304 HRD010 Hereditary Spastic Paraplegia DDHD2 NM_015214.2(DDHD2):c.1249_1891del deletion Likely pathogenic 183317 HRD010 Hereditary Spastic Paraplegia PLEKHG5 NM_020631.6(PLEKHG5):c.773C>T (p.Pro258Leu) SNV Likely pathogenic 827645 1:6533333-6533333 1:6473273-6473273 HRD010 Hereditary Spastic Paraplegia SPG7 NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) SNV Conflicting interpretations of pathogenicity 42016 rs61755320 16:89613145-89613145 16:89546737-89546737 HRD010 Hereditary Spastic Paraplegia SPG11 NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg) SNV Conflicting interpretations of pathogenicity 130365 rs76389165 15:44890903-44890903 15:44598705-44598705 HRD010 Hereditary Spastic Paraplegia CYP7B1 NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) SNV Conflicting interpretations of pathogenicity 6107 rs116171274 8:65509264-65509264 8:64596707-64596707 HRD010 Hereditary Spastic Paraplegia KIF5A NM_004984.4(KIF5A):c.839G>A (p.Arg280His) SNV Conflicting interpretations of pathogenicity 37130 rs387907288 12:57963058-57963058 12:57569275-57569275 HRD010 Hereditary Spastic Paraplegia SACS NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter) SNV Conflicting interpretations of pathogenicity 371545 rs761089024 13:23912386-23912386 13:23338247-23338247 HRD010 Hereditary Spastic Paraplegia NIPA1 NM_144599.5(NIPA1):c.24_26GGC[10] (p.Ala15_Ala16dup) short repeat Conflicting interpretations of pathogenicity 193496 rs531550505 15:23086364-23086365 15:22786677-22786678 HRD010 Hereditary Spastic Paraplegia SACS NM_014363.6(SACS):c.13717A>C (p.Asn4573His) SNV Conflicting interpretations of pathogenicity 193707 rs34382952 13:23904298-23904298 13:23330159-23330159 HRD010 Hereditary Spastic Paraplegia KIF1C NM_006612.6(KIF1C):c.2734C>T (p.Arg912Trp) SNV Conflicting interpretations of pathogenicity 209167 rs202232792 17:4926868-4926868 17:5023573-5023573 HRD010 Hereditary Spastic Paraplegia SH3TC2 NM_024577.3(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe) indel Conflicting interpretations of pathogenicity 216737 rs863224780 5:148407892-148407893 5:149028329-149028330 HRD010 Hereditary Spastic Paraplegia BICD2 NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg) SNV Conflicting interpretations of pathogenicity 235235 rs61754130 9:95491490-95491490 9:92729208-92729208 HRD010 Hereditary Spastic Paraplegia SACS NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) SNV Conflicting interpretations of pathogenicity 282385 rs61729954 13:23929378-23929378 13:23355239-23355239 HRD010 Hereditary Spastic Paraplegia ALS2 NM_020919.4(ALS2):c.3206G>A (p.Gly1069Glu) SNV Conflicting interpretations of pathogenicity 333592 rs200706696 2:202591249-202591249 2:201726526-201726526 HRD010 Hereditary Spastic Paraplegia SETX NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu) SNV Conflicting interpretations of pathogenicity 424692 rs148604312 9:135203159-135203159 9:132327772-132327772 HRD010 Hereditary Spastic Paraplegia SETX NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) SNV Conflicting interpretations of pathogenicity 424687 rs145097270 9:135203756-135203756 9:132328369-132328369 HRD010 Hereditary Spastic Paraplegia KIF1A NM_004321.7(KIF1A):c.31C>T (p.Arg11Trp) SNV Conflicting interpretations of pathogenicity 424652 rs548204329 2:241737139-241737139 2:240797722-240797722 HRD010 Hereditary Spastic Paraplegia KIF1C NM_006612.6(KIF1C):c.1111G>A (p.Ala371Thr) SNV Conflicting interpretations of pathogenicity 424675 rs142056835 17:4908241-4908241 17:5004946-5004946 HRD010 Hereditary Spastic Paraplegia KIF1C NM_006612.6(KIF1C):c.2299G>A (p.Gly767Arg) SNV Conflicting interpretations of pathogenicity 424674 rs118037269 17:4925675-4925675 17:5022380-5022380 HRD010 Hereditary Spastic Paraplegia MAG NM_002361.4(MAG):c.452C>T (p.Ala151Val) SNV Conflicting interpretations of pathogenicity 424686 rs144553163 19:35790493-35790493 19:35299590-35299590 HRD010 Hereditary Spastic Paraplegia MAG NM_002361.4(MAG):c.1117A>C (p.Ser373Arg) SNV Uncertain significance 424677 rs142375870 19:35793497-35793497 19:35302594-35302594 HRD010 Hereditary Spastic Paraplegia MAG NM_002361.4(MAG):c.1646C>T (p.Ser549Leu) SNV Uncertain significance 424680 rs767886169 19:35802850-35802850 19:35311947-35311947 HRD010 Hereditary Spastic Paraplegia SLC16A2 NM_006517.5(SLC16A2):c.377C>A (p.Ser126Tyr) SNV Uncertain significance 424685 rs1555979601 X:73641849-73641849 X:74422014-74422014 HRD010 Hereditary Spastic Paraplegia KIF1C NM_006612.6(KIF1C):c.2591G>A (p.Arg864His) SNV Uncertain significance 424676 rs146628704 17:4925967-4925967 17:5022672-5022672 HRD010 Hereditary Spastic Paraplegia SPG7 NM_003119.4(SPG7):c.1442C>T (p.Thr481Met) SNV Uncertain significance 424694 rs376713807 16:89611173-89611173 16:89544765-89544765 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.1084A>G (p.Ile362Val) SNV Uncertain significance 458311 rs768800460 15:50769562-50769562 15:50477365-50477365 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.2443A>G (p.Asn815Asp) SNV Uncertain significance 528041 rs1555392171 15:50785106-50785106 15:50492909-50492909 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.397C>T (p.Arg133Trp) SNV Uncertain significance 528042 rs202135045 15:50751258-50751258 15:50459061-50459061 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.823C>T (p.Arg275Trp) SNV Uncertain significance 528040 rs752682936 15:50763966-50763966 15:50471769-50471769 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.335+7A>G SNV Uncertain significance 569358 rs761711198 15:50741689-50741689 15:50449492-50449492 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.2320C>G (p.Pro774Ala) SNV Uncertain significance 577918 rs371064052 15:50784983-50784983 15:50492786-50492786 HRD010 Hereditary Spastic Paraplegia USP8 NC_000015.9:g.(?_50789266)_(50791305_?)dup duplication Uncertain significance 584095 15:50789266-50791305 15:50497069-50499108 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.865G>A (p.Val289Ile) SNV Uncertain significance 570786 rs143070181 15:50769061-50769061 15:50476864-50476864 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.1460A>G (p.Gln487Arg) SNV Uncertain significance 644754 15:50773919-50773919 15:50481722-50481722 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.1531G>C (p.Glu511Gln) SNV Uncertain significance 652116 15:50773990-50773990 15:50481793-50481793 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.2246A>G (p.Tyr749Cys) SNV Uncertain significance 658247 15:50784909-50784909 15:50492712-50492712 HRD010 Hereditary Spastic Paraplegia ZFR NM_016107.5(ZFR):c.2072A>C (p.His691Pro) SNV Uncertain significance 694656 5:32390451-32390451 5:32390345-32390345 HRD010 Hereditary Spastic Paraplegia ALS2 NM_020919.4(ALS2):c.3746T>C (p.Phe1249Ser) SNV Uncertain significance 412225 rs551822626 2:202582890-202582890 2:201718167-201718167 HRD010 Hereditary Spastic Paraplegia AMPD2 NM_001368809.2(AMPD2):c.488G>C (p.Arg163Pro) SNV Uncertain significance 424663 rs138175138 1:110169006-110169006 1:109626384-109626384 HRD010 Hereditary Spastic Paraplegia AMPD2 NM_001368809.2(AMPD2):c.1180G>A (p.Val394Met) SNV Uncertain significance 424691 rs374249741 1:110170804-110170804 1:109628182-109628182 HRD010 Hereditary Spastic Paraplegia AP4B1 NM_001253852.3(AP4B1):c.1114+29G>C SNV Uncertain significance 424678 rs1391634567 1:114442497-114442497 1:113899875-113899875 HRD010 Hereditary Spastic Paraplegia HSPD1 NM_002156.5(HSPD1):c.551A>G (p.Asn184Ser) SNV Uncertain significance 424666 rs67967266 2:198359436-198359436 2:197494712-197494712 HRD010 Hereditary Spastic Paraplegia WDR48 NM_020839.4(WDR48):c.280T>G (p.Ser94Ala) SNV Uncertain significance 424665 rs148407227 3:39108050-39108050 3:39066559-39066559 HRD010 Hereditary Spastic Paraplegia CCT5 NM_012073.5(CCT5):c.487G>A (p.Glu163Lys) SNV Uncertain significance 424664 rs552008894 5:10256222-10256222 5:10256110-10256110 HRD010 Hereditary Spastic Paraplegia ARSI NM_001012301.4(ARSI):c.1456C>T (p.Arg486Cys) SNV Uncertain significance 424689 rs139095592 5:149677031-149677031 5:150297468-150297468 HRD010 Hereditary Spastic Paraplegia ARSI NM_001012301.4(ARSI):c.1114G>A (p.Asp372Asn) SNV Uncertain significance 424672 rs150211860 5:149677373-149677373 5:150297810-150297810 HRD010 Hereditary Spastic Paraplegia AP4M1 NM_004722.4(AP4M1):c.607-2A>G SNV Uncertain significance 424662 rs755533568 7:99702495-99702495 7:100104872-100104872 HRD010 Hereditary Spastic Paraplegia AP5Z1 NM_014855.3(AP5Z1):c.272G>A (p.Arg91Gln) SNV Uncertain significance 424695 rs750211507 7:4821291-4821291 7:4781660-4781660 HRD010 Hereditary Spastic Paraplegia AP5Z1 NM_014855.3(AP5Z1):c.838A>C (p.Thr280Pro) SNV Uncertain significance 424671 rs554060393 7:4824586-4824586 7:4784955-4784955 HRD010 Hereditary Spastic Paraplegia AP5Z1 NM_014855.3(AP5Z1):c.1111G>A (p.Ala371Thr) SNV Uncertain significance 424670 rs376671338 7:4825294-4825294 7:4785663-4785663 HRD010 Hereditary Spastic Paraplegia AP5Z1 NM_014855.3(AP5Z1):c.2014G>A (p.Glu672Lys) SNV Uncertain significance 424693 rs145463842 7:4830379-4830379 7:4790748-4790748 HRD010 Hereditary Spastic Paraplegia AP5Z1 NM_014855.3(AP5Z1):c.2053C>T (p.Arg685Cys) SNV Uncertain significance 424688 rs367867460 7:4830418-4830418 7:4790787-4790787 HRD010 Hereditary Spastic Paraplegia BICD2 NM_001003800.2(BICD2):c.761A>G (p.Lys254Arg) SNV Uncertain significance 424684 rs1367809298 9:95482883-95482883 9:92720601-92720601 HRD010 Hereditary Spastic Paraplegia BSCL2 NM_032667.6(BSCL2):c.703G>A (p.Ala235Thr) SNV Uncertain significance 424673 rs141377075 11:62458862-62458862 11:62691390-62691390 HRD010 Hereditary Spastic Paraplegia BSCL2 NM_032667.6(BSCL2):c.617G>T (p.Arg206Leu) SNV Uncertain significance 424667 rs763884653 11:62459902-62459902 11:62692430-62692430 HRD010 Hereditary Spastic Paraplegia FLRT1 NM_014067.4(MACROD1):c.517+33381C>T SNV Uncertain significance 424679 rs752014510 11:63885330-63885330 11:64117858-64117858 HRD010 Hereditary Spastic Paraplegia AP5B1 NM_138368.5(AP5B1):c.2089T>C (p.Phe697Leu) SNV Uncertain significance 424669 rs1555023306 11:65545875-65545875 11:65778404-65778404 HRD010 Hereditary Spastic Paraplegia AP5B1 NM_138368.5(AP5B1):c.1791G>C (p.Gln597His) SNV Uncertain significance 424683 rs375914619 11:65546173-65546173 11:65778702-65778702 HRD010 Hereditary Spastic Paraplegia AP5B1 NM_138368.5(AP5B1):c.1201C>T (p.Leu401Phe) SNV Uncertain significance 424668 rs201041158 11:65546763-65546763 11:65779292-65779292 HRD010 Hereditary Spastic Paraplegia MARS1 NM_004990.4(MARS1):c.-18C>T SNV Uncertain significance 424681 rs201535531 12:57881856-57881856 12:57488073-57488073 HRD010 Hereditary Spastic Paraplegia KIF5A NM_004984.4(KIF5A):c.572G>A (p.Arg191His) SNV Uncertain significance 424697 rs1488871976 12:57960979-57960979 12:57567196-57567196 HRD010 Hereditary Spastic Paraplegia ZFYVE26 NM_015346.4(ZFYVE26):c.2183G>A (p.Arg728Gln) SNV Uncertain significance 424690 rs770927853 14:68264796-68264796 14:67798079-67798079 HRD010 Hereditary Spastic Paraplegia SPG11 NM_025137.4(SPG11):c.2486T>G (p.Val829Gly) SNV Uncertain significance 424696 rs1555455561 15:44914091-44914091 15:44621893-44621893 HRD010 Hereditary Spastic Paraplegia SETX NM_015046.7(SETX):c.4711G>A (p.Val1571Met) SNV Uncertain significance 424661 rs745970760 9:135202274-135202274 9:132326887-132326887 HRD010 Hereditary Spastic Paraplegia GAD1 NM_000817.3(GAD1):c.1252G>T (p.Val418Phe) SNV Uncertain significance 332237 rs143058194 2:171709291-171709291 2:170852781-170852781 HRD010 Hereditary Spastic Paraplegia SACS NM_014363.6(SACS):c.1640C>T (p.Pro547Leu) SNV Uncertain significance 311560 rs140507581 13:23929111-23929111 13:23354972-23354972 HRD010 Hereditary Spastic Paraplegia SPG7 NM_003119.4(SPG7):c.1933T>A (p.Ser645Thr) SNV Uncertain significance 215194 rs2099104 16:89619540-89619540 16:89553132-89553132 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.1129A>G (p.Ile377Val) SNV Uncertain significance 862796 15:50769607-50769607 15:50477410-50477410 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.634G>A (p.Asp212Asn) SNV Likely benign 705722 15:50757336-50757336 15:50465139-50465139 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.1872C>T (p.Asp624=) SNV Likely benign 702195 15:50776540-50776540 15:50484343-50484343 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.2331T>C (p.Thr777=) SNV Likely benign 704112 15:50784994-50784994 15:50492797-50492797 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.541+9G>A SNV Likely benign 705825 15:50754528-50754528 15:50462331-50462331 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.2896-9T>C SNV Likely benign 704486 15:50789277-50789277 15:50497080-50497080 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.36C>T (p.Tyr12=) SNV Likely benign 789411 15:50731306-50731306 15:50439109-50439109 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.564A>G (p.Leu188=) SNV Likely benign 723343 15:50757266-50757266 15:50465069-50465069 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.297C>A (p.Val99=) SNV Likely benign 705055 15:50741644-50741644 15:50449447-50449447 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.2658+5_2658+8dup duplication Likely benign 458315 rs535741597 15:50786479-50786480 15:50494282-50494283 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.3033G>A (p.Leu1011=) SNV Benign 458316 rs11857513 15:50789423-50789423 15:50497226-50497226 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.1448G>A (p.Arg483Gln) SNV Benign 458313 rs115970610 15:50773907-50773907 15:50481710-50481710 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.802T>A (p.Leu268Ile) SNV Benign 458317 rs61751062 15:50763945-50763945 15:50471748-50471748 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.1328A>G (p.Asp443Gly) SNV Benign 458312 rs3743044 15:50773787-50773787 15:50481590-50481590 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.1857T>C (p.Phe619=) SNV Benign 458314 rs10220843 15:50776525-50776525 15:50484328-50484328 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.1042G>A (p.Ala348Thr) SNV Benign 458310 rs61733869 15:50769520-50769520 15:50477323-50477323 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.400C>T (p.Leu134=) SNV Benign 704630 15:50751261-50751261 15:50459064-50459064 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.1296A>G (p.Gln432=) SNV Benign 528045 rs3131561 15:50773755-50773755 15:50481558-50481558 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.2511G>A (p.Leu837=) SNV Benign 528044 rs79646551 15:50786330-50786330 15:50494133-50494133 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.1162A>G (p.Lys388Glu) SNV Benign 528046 rs150568948 15:50769640-50769640 15:50477443-50477443 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.583A>G (p.Lys195Glu) SNV Benign 528043 rs147742292 15:50757285-50757285 15:50465088-50465088 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.1516A>C (p.Lys506Gln) SNV Benign 702871 15:50773975-50773975 15:50481778-50481778 HRD010 Hereditary Spastic Paraplegia USP8 NM_005154.5(USP8):c.1675C>T (p.His559Tyr) SNV Benign 704832 15:50774134-50774134 15:50481937-50481937 HRD010 Hereditary Spastic Paraplegia SACS NM_014363.6(SACS):c.1634G>T (p.Trp545Leu) SNV no interpretation for the single variant 424698 rs1555254281 13:23929117-23929117 13:23354978-23354978 HRD010 Hereditary Spastic Paraplegia HSD17B10 NM_001037811.2(HSD17B10):c.388C>T (p.Arg130Cys) SNV Pathogenic 11442 rs28935475 X:53459034-53459034 X:53432086-53432086 HSD004 Hsd10 Mitochondrial Disease HSD17B10 NM_001037811.2(HSD17B10):c.364C>G (p.Leu122Val) SNV Pathogenic 11443 rs28935476 X:53459058-53459058 X:53432110-53432110 HSD004 Hsd10 Mitochondrial Disease HSD17B10 NM_001037811.2(HSD17B10):c.713A>G (p.Asn238Ser) SNV Pathogenic 11444 rs122461163 X:53458398-53458398 X:53431450-53431450 HSD004 Hsd10 Mitochondrial Disease HSD17B10 NM_001037811.2(HSD17B10):c.568+6C>A SNV Pathogenic 11445 rs122462164 X:53458767-53458767 X:53431819-53431819 HSD004 Hsd10 Mitochondrial Disease HSD17B10 NM_001037811.2(HSD17B10):c.718G>C (p.Glu240Gln) SNV Pathogenic 11446 rs62626305 X:53458393-53458393 X:53431445-53431445 HSD004 Hsd10 Mitochondrial Disease HSD17B10 NM_001037811.2(HSD17B10):c.257A>G (p.Asp86Gly) SNV Pathogenic 144033 rs587777651 X:53459295-53459295 X:53432347-53432347 HSD004 Hsd10 Mitochondrial Disease HSD17B10 NM_001037811.2(HSD17B10):c.607A>G (p.Lys203Glu) SNV Pathogenic 280839 rs886041974 X:53458504-53458504 X:53431556-53431556 HSD004 Hsd10 Mitochondrial Disease HSD17B10 NM_004493.3(HSD17B10):c.517G>C (p.Gly173Arg) SNV Likely pathogenic 813313 X:53458824-53458824 X:53431876-53431876 HSD004 Hsd10 Mitochondrial Disease HSD17B10 NM_004493.3(HSD17B10):c.592C>A (p.Pro198Thr) SNV Likely pathogenic 254239 rs886037927 X:53458749-53458749 X:53431801-53431801 HSD004 Hsd10 Mitochondrial Disease HSD17B10 NM_001037811.2(HSD17B10):c.218C>G (p.Thr73Arg) SNV Uncertain significance 203377 rs794729644 X:53459334-53459334 X:53432386-53432386 HSD004 Hsd10 Mitochondrial Disease HSD17B10 NM_001037811.2(HSD17B10):c.259G>A (p.Val87Ile) SNV Uncertain significance 435470 rs371014686 X:53459293-53459293 X:53432345-53432345 HSD004 Hsd10 Mitochondrial Disease HSD17B10 NM_001037811.2(HSD17B10):c.253G>A (p.Val85Met) SNV Uncertain significance 587599 rs1211736877 X:53459299-53459299 X:53432351-53432351 HSD004 Hsd10 Mitochondrial Disease HSD17B10 NM_001037811.2(HSD17B10):c.194T>C (p.Val65Ala) SNV Uncertain significance 95101 rs104886492 X:53459358-53459358 X:53432410-53432410 HSD004 Hsd10 Mitochondrial Disease HTT NC_000004.11:g.3076606GCA[36_39] NT expansion other 812582 rs71180116 HNT016 Huntington Disease HTT NC_000004.11:g.3076606GCA[27_35] NT expansion other 812592 rs71180116 HNT016 Huntington Disease HTT NC_000004.11:g.3076606GCA[(40_?)] NT expansion Pathogenic 409 rs71180116 4:3076604-3076660 4:3074935-3074936 HNT016 Huntington Disease HTT NM_002111.7(HTT):c.52CAG(36_39) NT expansion Pathogenic 31916 rs71180116 4:3076604-3076604 4:3074877-3074877 HNT016 Huntington Disease HTT NM_002111.6(HTT):c.52CAG(27_35) (p.Gln18_Gln38delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) NT expansion Pathogenic 31915 rs71180116 4:3076604-3076604 4:3074877-3074877 HNT016 Huntington Disease HTT NM_002111.6(HTT):c.52_54(?_25) NT expansion Benign 21303 rs71180116 4:3076604-3076606 4:3074877-3074879 HNT016 Huntington Disease HTT NC_000004.11:g.3076606GCA[(?_26)] NT expansion Benign 812591 rs71180116 4:3076606-3076606 HNT016 Huntington Disease POGZ NM_015100.4(POGZ):c.2771del (p.Pro924fs) deletion Pathogenic 523510 rs1553212868 1:151378740-151378740 1:151406264-151406264 HYP748 Hypertelorism TFAP2A NM_001032280.3(TFAP2A):c.1019_1020del (p.Lys340fs) deletion Pathogenic 523459 rs1554110735 6:10398926-10398927 6:10398693-10398694 HYP748 Hypertelorism EFNB1 GRCh37/hg19 Xq13.1(chrX:68058460-68059931) copy number loss Pathogenic 523309 X:68058460-68059931 HYP748 Hypertelorism SCN1A NM_001165963.4(SCN1A):c.3327dup (p.Ser1110fs) duplication Pathogenic 599005 rs1559193213 2:166892659-166892660 2:166036149-166036150 HYP748 Hypertelorism MYH10 NM_001256012.2(MYH10):c.4505G>C (p.Arg1502Pro) SNV Pathogenic 625873 17:8395781-8395781 17:8492463-8492463 HYP748 Hypertelorism ATP6 NC_012920.1:m.8993T>G SNV Pathogenic 9641 rs199476133 MT:8993-8993 MT:8993-8993 HYP748 Hypertelorism RET NM_020975.6(RET):c.2753T>C (p.Met918Thr) SNV Pathogenic 13919 rs74799832 10:43617416-43617416 10:43121968-43121968 HYP748 Hypertelorism COL1A1 NM_000088.3(COL1A1):c.1777G>A (p.Gly593Ser) SNV Pathogenic 17326 rs66527965 17:48270399-48270399 17:50193038-50193038 HYP748 Hypertelorism NSD1 NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter) SNV Pathogenic 159315 rs587784105 5:176662864-176662864 5:177235863-177235863 HYP748 Hypertelorism MED13L t(12;19)(q24.21;q12) Translocation Pathogenic 218934 HYP748 Hypertelorism ANKRD11 NM_013275.6(ANKRD11):c.5317G>T (p.Glu1773Ter) SNV Pathogenic 242882 rs1114167291 16:89347633-89347633 16:89281225-89281225 HYP748 Hypertelorism NSD1 NM_022455.4(NSD1):c.6050G>A (p.Arg2017Gln) SNV Pathogenic/Likely pathogenic 159398 rs587784177 5:176710828-176710828 5:177283827-177283827 HYP748 Hypertelorism ELN NM_000501.4(ELN):c.1150+1G>A SNV Pathogenic/Likely pathogenic 163391 rs727503030 7:73469100-73469100 7:74054770-74054770 HYP748 Hypertelorism FGFR2 NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys) SNV Pathogenic/Likely pathogenic 13271 rs121918494 10:123276877-123276877 10:121517363-121517363 HYP748 Hypertelorism PAX6 NM_019040.5(ELP4):c.*6411T>A SNV Pathogenic/Likely pathogenic 3474 rs121907922 11:31811483-31811483 11:31789935-31789935 HYP748 Hypertelorism PIK3CA NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) SNV Pathogenic/Likely pathogenic 376498 rs1057519942 3:178921548-178921548 3:179203760-179203760 HYP748 Hypertelorism COL11A1 NM_001854.4(COL11A1):c.4048_4065del (p.Ser1350_Pro1355del) deletion Likely pathogenic 523552 rs1553200431 1:103377736-103377753 1:102912180-102912197 HYP748 Hypertelorism RPS6KA3 NM_004586.3(RPS6KA3):c.533C>G (p.Ala178Gly) SNV Likely pathogenic 374121 rs1057518914 X:20211665-20211665 X:20193547-20193547 HYP748 Hypertelorism FGF14 NM_004115.3(FGF14):c.486dup (p.Arg163fs) duplication Likely pathogenic 598976 rs1566823361 13:102379082-102379083 13:101726732-101726733 HYP748 Hypertelorism KAT6B NM_012330.4(KAT6B):c.5213C>T (p.Thr1738Ile) SNV Likely pathogenic 523500 rs1554846212 10:76789795-76789795 10:75030037-75030037 HYP748 Hypertelorism SLC12A6 NM_001365088.1(SLC12A6):c.752dup (p.Ser252fs) duplication Likely pathogenic 523557 rs1555380716 15:34547586-34547587 15:34255385-34255386 HYP748 Hypertelorism MLLT1 NM_005934.4(MLLT1):c.1418G>A (p.Arg473Gln) SNV Likely pathogenic 242890 rs749203329 19:6213798-6213798 19:6213787-6213787 HYP748 Hypertelorism RIT1 NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) SNV Conflicting interpretations of pathogenicity 224122 rs869312687 1:155880486-155880486 1:155910695-155910695 HYP748 Hypertelorism PIGL NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) SNV Conflicting interpretations of pathogenicity 30544 rs145303331 17:16220000-16220000 17:16316686-16316686 HYP748 Hypertelorism MID1 NM_000381.4(MID1):c.1765A>G (p.Asn589Asp) SNV Uncertain significance 523364 rs1556001939 X:10417647-10417647 X:10449607-10449607 HYP748 Hypertelorism COL5A1 NM_001278074.1(COL5A1):c.3760C>T (p.Pro1254Ser) SNV Uncertain significance 523325 rs1554805125 9:137704466-137704466 9:134812620-134812620 HYP748 Hypertelorism TFAP2B NM_003221.4(TFAP2B):c.830C>G (p.Ser277Trp) SNV Uncertain significance 374174 rs1057518947 6:50805696-50805696 6:50837983-50837983 HYP748 Hypertelorism PIGL NM_004278.4(PIGL):c.176C>A (p.Pro59His) SNV Uncertain significance 374175 rs1057518948 17:16120716-16120716 17:16217402-16217402 HYP748 Hypertelorism TRNI m.4291T>C SNV Pathogenic 9607 rs121434471 MT:4291-4291 MT:4291-4291 HYP800 Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial VCP NM_007126.5(VCP):c.463C>T (p.Arg155Cys) SNV Pathogenic/Likely pathogenic 8469 rs121909330 9:35065361-35065361 9:35065364-35065364 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.2406T>C (p.Asp802=) SNV Conflicting interpretations of pathogenicity 194756 rs145508640 9:35057129-35057129 9:35057132-35057132 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.1584C>T (p.Ala528=) SNV Conflicting interpretations of pathogenicity 283215 rs147623367 9:35060421-35060421 9:35060424-35060424 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.426G>A (p.Ala142=) SNV Conflicting interpretations of pathogenicity 464109 rs577812326 9:35066691-35066691 9:35066694-35066694 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.478G>C (p.Ala160Pro) SNV Conflicting interpretations of pathogenicity 532761 rs1554668805 9:35065346-35065346 9:35065349-35065349 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.1327A>C (p.Asn443His) SNV Uncertain significance 532760 rs770514866 9:35061044-35061044 9:35061047-35061047 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.811+2_811+3inv inversion Uncertain significance 464111 rs1554668584 9:35062972-35062973 9:35062975-35062976 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.1194+3G>A SNV Uncertain significance 565903 rs183223259 9:35061571-35061571 9:35061574-35061574 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.284G>C (p.Arg95Pro) SNV Uncertain significance 595911 rs758169026 9:35067906-35067906 9:35067909-35067909 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.512G>T (p.Ser171Ile) SNV Uncertain significance 640109 9:35065312-35065312 9:35065315-35065315 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.954C>T (p.Gly318=) SNV Uncertain significance 287400 rs377316335 9:35062127-35062127 9:35062130-35062130 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.2345G>C (p.Gly782Ala) SNV Uncertain significance 835129 9:35057190-35057190 9:35057193-35057193 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.2228C>T (p.Ala743Val) SNV Uncertain significance 837640 9:35057460-35057460 9:35057463-35057463 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.1996G>A (p.Val666Ile) SNV Uncertain significance 847962 9:35059498-35059498 9:35059501-35059501 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.995T>C (p.Met332Thr) SNV Uncertain significance 846874 9:35062086-35062086 9:35062089-35062089 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.648A>G (p.Ile216Met) SNV Uncertain significance 836876 9:35064211-35064211 9:35064214-35064214 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.446-4_446-3delinsAT indel Uncertain significance 842949 9:35065381-35065382 9:35065384-35065385 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.624C>T (p.Gly208=) SNV Likely benign 753125 9:35064235-35064235 9:35064238-35064238 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.1696-4A>G SNV Likely benign 790949 9:35059802-35059802 9:35059805-35059805 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.924C>T (p.Ala308=) SNV Likely benign 767613 9:35062235-35062235 9:35062238-35062238 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.2052A>G (p.Gly684=) SNV Likely benign 709727 9:35059169-35059169 9:35059172-35059172 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.1887T>C (p.Ile629=) SNV Likely benign 733166 9:35059607-35059607 9:35059610-35059610 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.2316-4A>G SNV Likely benign 532767 rs755625059 9:35057223-35057223 9:35057226-35057226 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.1202A>G (p.Asn401Ser) SNV Likely benign 464105 rs148329626 9:35061169-35061169 9:35061172-35061172 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.2161-6C>T SNV Likely benign 532766 rs199513619 9:35057533-35057533 9:35057536-35057536 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.1704A>G (p.Gln568=) SNV Benign/Likely benign 260125 rs142577424 9:35059790-35059790 9:35059793-35059793 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.1082-18_1082-8dup duplication Benign 260119 rs11272867 9:35061693-35061694 9:35061696-35061697 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.79A>G (p.Ile27Val) SNV Benign 284302 rs140913250 9:35068298-35068298 9:35068301-35068301 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.18-5T>C SNV Benign 366721 rs114256093 9:35068364-35068364 9:35068367-35068367 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.1092C>T (p.Asp364=) SNV Benign 366718 rs61752947 9:35061676-35061676 9:35061679-35061679 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.927C>T (p.Ile309=) SNV Benign 366719 rs34097935 9:35062232-35062232 9:35062235-35062235 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.2214A>G (p.Glu738=) SNV Benign 194645 rs374391034 9:35057474-35057474 9:35057477-35057477 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.1082-9G>T SNV Benign 464103 rs12349922 9:35061695-35061695 9:35061698-35061698 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.2160+8T>G SNV Benign 742604 9:35059053-35059053 9:35059056-35059056 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia VCP NM_007126.5(VCP):c.832T>C (p.Leu278=) SNV Benign 706186 9:35062327-35062327 9:35062330-35062330 INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia TRNF m.608A>G SNV Pathogenic 30006 rs387906735 MT:608-608 MT:608-608 INT067 Interstitial Nephritis CLMP NM_024769.4(CLMP):c.230del (p.Glu77fs) deletion Pathogenic 50383 rs587776964 11:122955378-122955378 11:123084670-123084670 INT072 Intestinal Pseudo-Obstruction CLMP NM_024769.4(CLMP):c.821G>A (p.Arg274Gln) SNV Pathogenic 50384 rs587776965 11:122945410-122945410 11:123074702-123074702 INT072 Intestinal Pseudo-Obstruction CLMP NM_024769.4(CLMP):c.664C>T (p.Arg222Ter) SNV Pathogenic 50385 rs587776966 11:122953808-122953808 11:123083100-123083100 INT072 Intestinal Pseudo-Obstruction CLMP NM_024769.4(CLMP):c.371T>A (p.Val124Asp) SNV Pathogenic 50386 rs587776967 11:122955237-122955237 11:123084529-123084529 INT072 Intestinal Pseudo-Obstruction ACTG2 NM_001615.4(ACTG2):c.442C>A (p.Arg148Ser) SNV Pathogenic 132797 rs587777383 2:74136257-74136257 2:73909130-73909130 INT072 Intestinal Pseudo-Obstruction ACTG2 NM_001615.4(ACTG2):c.119G>A (p.Arg40His) SNV Pathogenic 132802 rs587777386 2:74128557-74128557 2:73901430-73901430 INT072 Intestinal Pseudo-Obstruction ACTG2 NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys) SNV Pathogenic 132803 rs587777387 2:74141962-74141962 2:73914835-73914835 INT072 Intestinal Pseudo-Obstruction ACTG2 NM_001615.4(ACTG2):c.770G>A (p.Arg257His) SNV Pathogenic 208792 rs797044959 2:74141963-74141963 2:73914836-73914836 INT072 Intestinal Pseudo-Obstruction ACTG2 NM_001615.4(ACTG2):c.113G>A (p.Arg38His) SNV Pathogenic 217521 rs869312168 2:74128551-74128551 2:73901424-73901424 INT072 Intestinal Pseudo-Obstruction CLMP NM_024769.4(CLMP):c.508C>T (p.Arg170Ter) SNV Pathogenic 224071 rs765907815 11:122954436-122954436 11:123083728-123083728 INT072 Intestinal Pseudo-Obstruction MYH11 NM_002474.3(MYH11):c.5787-4707del deletion Uncertain significance 627645 rs747392139 16:15802687-15802687 16:15708830-15708830 INT072 Intestinal Pseudo-Obstruction TMEM70 NM_017866.6(TMEM70):c.117_118dup (p.Ser40fs) duplication Pathogenic 203989 rs796052056 8:74888632-74888633 8:73976397-73976398 ISL082 Isolated Atp Synthase Deficiency KMT2D NM_003482.3(KMT2D):c.13207_13208del (p.Asn4403fs) deletion Pathogenic 430815 rs1555187577 12:49425280-49425281 12:49031497-49031498 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12304C>T (p.Gln4102Ter) SNV Pathogenic 430816 rs1555188129 12:49426184-49426184 12:49032401-49032401 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12661C>T (p.Gln4221Ter) SNV Pathogenic 397538 rs1060499669 12:49425827-49425827 12:49032044-49032044 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5852del (p.Pro1951fs) deletion Pathogenic 403721 rs1060499724 12:49436359-49436359 12:49042576-49042576 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.10810C>T (p.Gln3604Ter) SNV Pathogenic 417814 rs1060499552 12:49427678-49427678 12:49033895-49033895 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.9602dup (p.Ser3202fs) duplication Pathogenic 424021 rs1555190375 12:49431536-49431537 12:49037753-49037754 KBK002 Kabuki Syndrome 1 KMT2A NM_005933.4(KMT2A):c.5794-1G>A SNV Pathogenic 430819 rs1555044700 11:118369084-118369084 11:118498369-118498369 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14843C>G (p.Ser4948Ter) SNV Pathogenic 433190 rs940178682 12:49420906-49420906 12:49027123-49027123 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11515C>T (p.Gln3839Ter) SNV Pathogenic 433189 rs1555188653 12:49426973-49426973 12:49033190-49033190 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5269C>T (p.Arg1757Ter) SNV Pathogenic 435669 rs1555194045 12:49437701-49437701 12:49043918-49043918 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4209C>A (p.Cys1403Ter) SNV Pathogenic 435670 rs1555195441 12:49441775-49441775 12:49047992-49047992 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.603_604dup (p.Gly202fs) duplication Pathogenic 435671 rs1555198491 12:49447829-49447830 12:49054046-49054047 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8059C>T (p.Arg2687Ter) SNV Pathogenic 449562 rs1555191598 12:49433388-49433388 12:49039605-49039605 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14358_14359CA[1] (p.Thr4787fs) short repeat Pathogenic 463008 rs1555186436 12:49422632-49422633 12:49028849-49028850 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14688C>A (p.Tyr4896Ter) SNV Pathogenic 463010 rs1555186079 12:49421061-49421061 12:49027278-49027278 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.13833_13837dup (p.Lys4613fs) duplication Pathogenic 463007 rs1555187105 12:49424385-49424386 12:49030602-49030603 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12019C>T (p.Gln4007Ter) SNV Pathogenic 463003 rs188017299 12:49426469-49426469 12:49032686-49032686 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8207_8210dup (p.Pro2738fs) duplication Pathogenic 463022 rs1555191521 12:49433236-49433237 12:49039453-49039454 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4812dup (p.Met1605fs) duplication Pathogenic 463017 rs1555194510 12:49438677-49438678 12:49044894-49044895 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.1345_1346del (p.Leu449fs) deletion Pathogenic 463006 rs1555197682 12:49446120-49446121 12:49052337-49052338 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12985C>T (p.Gln4329Ter) SNV Pathogenic 463004 rs1555187758 12:49425503-49425503 12:49031720-49031720 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.9703_9704del (p.Lys3235fs) deletion Pathogenic 463025 rs1555190324 12:49431435-49431436 12:49037652-49037653 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6264del (p.Lys2089fs) deletion Pathogenic 463019 rs1555192996 12:49435289-49435289 12:49041506-49041506 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6673dup (p.Glu2225fs) duplication Pathogenic 463020 rs1555192667 12:49434879-49434880 12:49041096-49041097 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4204C>T (p.Gln1402Ter) SNV Pathogenic 463015 rs1555195442 12:49441780-49441780 12:49047997-49047997 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.16052G>A (p.Arg5351Gln) SNV Pathogenic 463012 rs1555185217 12:49418361-49418361 12:49024578-49024578 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11755C>T (p.Gln3919Ter) SNV Pathogenic 463002 rs1555188501 12:49426733-49426733 12:49032950-49032950 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11093dup (p.Phe3699fs) duplication Pathogenic 488541 rs35493001 12:49427394-49427395 12:49033611-49033612 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6295C>T (p.Arg2099Ter) SNV Pathogenic 521015 rs1452715535 12:49435258-49435258 12:49041475-49041475 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.13818C>G (p.Tyr4606Ter) SNV Pathogenic 523017 rs1555187117 12:49424405-49424405 12:49030622-49030622 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15641G>C (p.Arg5214Pro) SNV Pathogenic 523665 rs398123729 12:49420108-49420108 12:49026325-49026325 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8311C>T (p.Arg2771Ter) SNV Pathogenic 503723 rs1251778848 12:49433060-49433060 12:49039277-49039277 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14700del (p.Leu4901fs) deletion Pathogenic 531885 rs1555186066 12:49421049-49421049 12:49027266-49027266 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11812C>T (p.Gln3938Ter) SNV Pathogenic 531890 rs1350605713 12:49426676-49426676 12:49032893-49032893 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6594del (p.Tyr2199fs) deletion Pathogenic 531891 rs1555192751 12:49434959-49434959 12:49041176-49041176 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2533del (p.Arg845fs) deletion Pathogenic 531886 rs767415197 12:49444933-49444933 12:49051150-49051150 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.16437del (p.Asn5480fs) deletion Pathogenic 547510 rs1555184635 12:49415910-49415910 12:49022127-49022127 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14878C>T (p.Arg4960Ter) SNV Pathogenic 547499 rs1555185969 12:49420871-49420871 12:49027088-49027088 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15640C>T (p.Arg5214Cys) SNV Pathogenic 547505 rs398123728 12:49420109-49420109 12:49026326-49026326 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7933C>T (p.Arg2645Ter) SNV Pathogenic 547450 rs1555191740 12:49433620-49433620 12:49039837-49039837 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4379del (p.Pro1460fs) deletion Pathogenic 547420 rs1240601136 12:49440431-49440431 12:49046648-49046648 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.1301del (p.Leu434fs) deletion Pathogenic 547402 rs1555197738 12:49446165-49446165 12:49052382-49052382 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14069_14075+1del deletion Pathogenic 559648 rs1555186619 12:49423183-49423190 12:49029400-49029407 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15902_15903del (p.Val5301fs) deletion Pathogenic 561046 rs1565756561 12:49418611-49418612 12:49024828-49024829 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.13361del (p.Pro4454fs) deletion Pathogenic 580374 rs1565771606 12:49425127-49425127 12:49031344-49031344 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3704del (p.Gly1235fs) deletion Pathogenic 573747 rs1364500207 12:49443667-49443667 12:49049884-49049884 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8478_8488del (p.Thr2827fs) deletion Pathogenic 577069 rs1565789522 12:49432651-49432661 12:49038868-49038878 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11881C>T (p.Gln3961Ter) SNV Pathogenic 581886 rs1565776616 12:49426607-49426607 12:49032824-49032824 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.10570C>T (p.Gln3524Ter) SNV Pathogenic 579500 rs1565780936 12:49428020-49428020 12:49034237-49034237 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5263C>T (p.Gln1755Ter) SNV Pathogenic 581592 rs1565802369 12:49437707-49437707 12:49043924-49043924 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3903del (p.Lys1301fs) deletion Pathogenic 569278 rs1565812092 12:49443468-49443468 12:49049685-49049685 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3315_3325CCCCAGCCCTG[1] (p.Ala1109fs) short repeat Pathogenic 582622 rs1565813691 12:49444035-49444045 12:49050252-49050262 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2317dup (p.Gln773fs) duplication Pathogenic 570717 rs1565817210 12:49445148-49445149 12:49051365-49051366 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.945del (p.Ser314_Trp315insTer) deletion Pathogenic 620017 rs1565822457 12:49446999-49446999 12:49053216-49053216 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12878_12893del (p.Pro4293fs) deletion Pathogenic 619211 rs1565773113 12:49425595-49425610 12:49031812-49031827 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14568G>A (p.Trp4856Ter) SNV Pathogenic 620058 rs1565763192 12:49421661-49421661 12:49027878-49027878 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.1029_1030CT[2] (p.Leu345fs) short repeat Pathogenic 635198 12:49446774-49446777 12:49052991-49052994 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.9964C>T (p.Gln3322Ter) SNV Pathogenic 635527 12:49431175-49431175 12:49037392-49037392 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.595_604del (p.Thr199fs) deletion Pathogenic 635515 12:49447830-49447839 12:49054047-49054056 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2579del (p.Leu860fs) deletion Pathogenic 637044 12:49444887-49444887 12:49051104-49051104 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8229+1G>A SNV Pathogenic 637040 12:49433217-49433217 12:49039434-49039434 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14753del (p.Pro4918fs) deletion Pathogenic 692044 12:49420996-49420996 12:49027213-49027213 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6010C>T (p.Gln2004Ter) SNV Pathogenic 692015 12:49435971-49435971 12:49042188-49042188 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3968dup (p.Gly1323_Arg1324insTer) duplication Pathogenic 692057 12:49442939-49442940 12:49049156-49049157 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15834del (p.Asp5279fs) deletion Pathogenic 694684 12:49418680-49418680 12:49024897-49024897 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.9223dup (p.Ser3075fs) duplication Pathogenic 694724 12:49431915-49431916 12:49038132-49038133 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5869G>T (p.Glu1957Ter) SNV Pathogenic 694715 12:49436112-49436112 12:49042329-49042329 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5278A>T (p.Lys1760Ter) SNV Pathogenic 694711 12:49437692-49437692 12:49043909-49043909 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.14976del (p.Leu4993fs) deletion Pathogenic 802847 12:49420773-49420773 12:49026990-49026990 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.10777del (p.Ala3593fs) deletion Pathogenic 802851 12:49427711-49427711 12:49033928-49033928 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.8230-1G>A SNV Pathogenic 802852 12:49433142-49433142 12:49039359-49039359 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.7021C>T (p.Gln2341Ter) SNV Pathogenic 802854 12:49434532-49434532 12:49040749-49040749 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.176+1G>A SNV Pathogenic 802855 12:49448682-49448682 12:49054899-49054899 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3788C>G (p.Ser1263Ter) SNV Pathogenic 645513 12:49443583-49443583 12:49049800-49049800 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4400del (p.Gly1467fs) deletion Pathogenic 649906 12:49440410-49440410 12:49046627-49046627 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4525_4528del (p.Ile1509fs) deletion Pathogenic 652440 12:49440098-49440101 12:49046315-49046318 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5199_5206dup (p.Pro1736fs) duplication Pathogenic 647911 12:49437763-49437764 12:49043980-49043981 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6114G>A (p.Trp2038Ter) SNV Pathogenic 659178 12:49435769-49435769 12:49041986-49041986 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6496C>T (p.Gln2166Ter) SNV Pathogenic 642660 12:49435057-49435057 12:49041274-49041274 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6508del (p.Gln2170fs) deletion Pathogenic 644609 12:49435045-49435045 12:49041262-49041262 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6705_6706AC[3] (p.Gln2237fs) short repeat Pathogenic 644536 12:49434844-49434845 12:49041061-49041062 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6991dup (p.Leu2331fs) duplication Pathogenic 653354 12:49434561-49434562 12:49040778-49040779 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7183_7214delinsACT (p.Cys2395fs) indel Pathogenic 664096 12:49434339-49434370 12:49040556-49040587 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8044C>T (p.Gln2682Ter) SNV Pathogenic 658825 12:49433509-49433509 12:49039726-49039726 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8200C>T (p.Arg2734Ter) SNV Pathogenic 653606 12:49433247-49433247 12:49039464-49039464 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8953A>T (p.Lys2985Ter) SNV Pathogenic 658862 12:49432186-49432186 12:49038403-49038403 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.9947del (p.Gly3316fs) deletion Pathogenic 643374 12:49431192-49431192 12:49037409-49037409 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.10704_10705AG[3] (p.Gln3570fs) short repeat Pathogenic 650671 12:49427882-49427883 12:49034099-49034100 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11968C>T (p.Gln3990Ter) SNV Pathogenic 649558 12:49426520-49426520 12:49032737-49032737 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11971C>T (p.Gln3991Ter) SNV Pathogenic 646335 12:49426517-49426517 12:49032734-49032734 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.3292del (p.Met1098fs) deletion Pathogenic 813317 12:49444079-49444079 12:49050296-49050296 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.1468_1471del (p.Glu490fs) deletion Pathogenic 649945 12:49445995-49445998 12:49052212-49052215 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.1529C>G (p.Ser510Ter) SNV Pathogenic 661208 12:49445937-49445937 12:49052154-49052154 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.1825del (p.Ser609fs) deletion Pathogenic 651533 12:49445641-49445641 12:49051858-49051858 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12715C>T (p.Gln4239Ter) SNV Pathogenic 652230 12:49425773-49425773 12:49031990-49031990 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12807_12810ACAG[1] (p.Thr4271fs) short repeat Pathogenic 649491 12:49425674-49425677 12:49031891-49031894 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.13895dup (p.Ser4633fs) duplication Pathogenic 664811 12:49424166-49424167 12:49030383-49030384 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14823_14825delinsTGTT (p.Leu4941fs) indel Pathogenic 643443 12:49420924-49420926 12:49027141-49027143 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15050dup (p.Thr5018fs) duplication Pathogenic 661403 12:49420698-49420699 12:49026915-49026916 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8366+1G>T SNV Pathogenic 634818 rs1057518149 12:49433004-49433004 12:49039221-49039221 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.713del (p.Leu238fs) deletion Pathogenic 642765 12:49447385-49447385 12:49053602-49053602 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.166C>T (p.Gln56Ter) SNV Pathogenic 829800 12:49448693-49448693 12:49054910-49054910 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.16441_16442TG[2] (p.Val5482fs) short repeat Pathogenic 836929 12:49415901-49415902 12:49022118-49022119 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.15289C>T (p.Arg5097Ter) SNV Pathogenic 851272 12:49420460-49420460 12:49026677-49026677 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.15185G>A (p.Cys5062Tyr) SNV Pathogenic 840772 12:49420564-49420564 12:49026781-49026781 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.15171G>A (p.Trp5057Ter) SNV Pathogenic 844389 12:49420578-49420578 12:49026795-49026795 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.11769del (p.Gln3923fs) deletion Pathogenic 856284 12:49426719-49426719 12:49032936-49032936 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.9136G>T (p.Glu3046Ter) SNV Pathogenic 860101 12:49432003-49432003 12:49038220-49038220 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.1762_1763del (p.Ser588fs) deletion Pathogenic 843792 12:49445703-49445704 12:49051920-49051921 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.1748del (p.Pro583fs) deletion Pathogenic 848635 12:49445718-49445718 12:49051935-49051935 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.544_548del (p.Ile182fs) deletion Pathogenic 853584 12:49447886-49447890 12:49054103-49054107 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.6293_6296ACCG[3] (p.Ala2101fs) short repeat Pathogenic 842599 12:49435252-49435253 12:49041469-49041470 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.5149C>T (p.Gln1717Ter) SNV Pathogenic 860555 12:49438022-49438022 12:49044239-49044239 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.13579A>T (p.Lys4527Ter) SNV Pathogenic 7537 rs267607240 12:49424768-49424768 12:49030985-49030985 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.16360C>T (p.Arg5454Ter) SNV Pathogenic 7538 rs267607239 12:49416115-49416115 12:49022332-49022332 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14710C>T (p.Arg4904Ter) SNV Pathogenic 94176 rs398123721 12:49421039-49421039 12:49027256-49027256 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5908_5915del (p.Asp1970fs) deletion Pathogenic 94232 rs398123751 12:49436066-49436073 12:49042283-49042290 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6595del (p.Tyr2199fs) deletion Pathogenic 94239 rs398123753 12:49434958-49434958 12:49041175-49041175 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.16438_16441del (p.Asn5480fs) deletion Pathogenic 158744 rs587783703 12:49415906-49415909 12:49022123-49022126 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15943C>T (p.Gln5315Ter) SNV Pathogenic 158740 rs587783699 12:49418470-49418470 12:49024687-49024687 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15844C>T (p.Arg5282Ter) SNV Pathogenic 158739 rs587783698 12:49418670-49418670 12:49024887-49024887 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15791G>A (p.Trp5264Ter) SNV Pathogenic 158738 rs587783697 12:49418723-49418723 12:49024940-49024940 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.13606C>T (p.Arg4536Ter) SNV Pathogenic 158731 rs587783692 12:49424741-49424741 12:49030958-49030958 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.13518del (p.Ser4507fs) deletion Pathogenic 158730 rs587783691 12:49424970-49424970 12:49031187-49031187 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.13450C>T (p.Arg4484Ter) SNV Pathogenic 158729 rs587783690 12:49425038-49425038 12:49031255-49031255 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12962C>A (p.Ser4321Ter) SNV Pathogenic 158726 rs587783688 12:49425526-49425526 12:49031743-49031743 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12954_12955GA[1] (p.Arg4319fs) short repeat Pathogenic 158725 rs587783687 12:49425531-49425532 12:49031748-49031749 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15195G>A (p.Trp5065Ter) SNV Pathogenic 158735 rs587783696 12:49420554-49420554 12:49026771-49026771 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12592C>T (p.Arg4198Ter) SNV Pathogenic 158722 rs587783685 12:49425896-49425896 12:49032113-49032113 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11386del (p.Gln3796fs) deletion Pathogenic 158717 rs587783683 12:49427102-49427102 12:49033319-49033319 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11263C>T (p.Gln3755Ter) SNV Pathogenic 158715 rs587783681 12:49427225-49427225 12:49033442-49033442 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6670_6674del (p.Gly2224fs) deletion Pathogenic 158778 rs587783725 12:49434879-49434883 12:49041096-49041100 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4739del (p.Pro1580fs) deletion Pathogenic 158771 rs587783719 12:49439705-49439705 12:49045922-49045922 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6126C>A (p.Cys2042Ter) SNV Pathogenic 158776 rs556669370 12:49435757-49435757 12:49041974-49041974 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6086del (p.Pro2029fs) deletion Pathogenic 158775 rs587783723 12:49435895-49435895 12:49042112-49042112 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4221del (p.Cys1408fs) deletion Pathogenic 158767 rs587783715 12:49441763-49441763 12:49047980-49047980 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3695del (p.Pro1232fs) deletion Pathogenic 158760 rs587783713 12:49443676-49443676 12:49049893-49049893 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3553C>T (p.Gln1185Ter) SNV Pathogenic 158759 rs587783712 12:49443818-49443818 12:49050035-49050035 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3121C>T (p.Gln1041Ter) SNV Pathogenic 158758 rs587783711 12:49444250-49444250 12:49050467-49050467 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.1813G>T (p.Glu605Ter) SNV Pathogenic 158746 rs587783705 12:49445653-49445653 12:49051870-49051870 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15256C>T (p.Arg5086Ter) SNV Pathogenic 167218 rs727503979 12:49420493-49420493 12:49026710-49026710 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3754C>T (p.Arg1252Ter) SNV Pathogenic 167228 rs727503987 12:49443617-49443617 12:49049834-49049834 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8488C>T (p.Arg2830Ter) SNV Pathogenic 167222 rs727503983 12:49432651-49432651 12:49038868-49038868 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4237-2A>C SNV Pathogenic 208484 rs797045001 12:49440575-49440575 12:49046792-49046792 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15079C>T (p.Arg5027Ter) SNV Pathogenic 211319 rs797045659 12:49420670-49420670 12:49026887-49026887 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11845C>T (p.Gln3949Ter) SNV Pathogenic 211317 rs797045658 12:49426643-49426643 12:49032860-49032860 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.9540del (p.Glu3181fs) deletion Pathogenic 211334 rs797045672 12:49431599-49431599 12:49037816-49037816 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8445_8475dup (p.Ala2826fs) duplication Pathogenic 211333 rs797045671 12:49432663-49432664 12:49038880-49038881 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6172del (p.Ala2058fs) deletion Pathogenic 211331 rs797045669 12:49435711-49435711 12:49041928-49041928 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6171dup (p.Ala2058fs) duplication Pathogenic 211330 rs797045668 12:49435711-49435712 12:49041928-49041929 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4981dup (p.Glu1661fs) duplication Pathogenic 211329 rs797045667 12:49438287-49438288 12:49044504-49044505 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3591del (p.Thr1198fs) deletion Pathogenic 211325 rs797045663 12:49443780-49443780 12:49049997-49049997 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3585dup (p.Pro1196fs) duplication Pathogenic 211324 rs797045662 12:49443785-49443786 12:49050002-49050003 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2954_2955insT (p.Pro986fs) insertion Pathogenic 211321 rs797045660 12:49444416-49444417 12:49050633-49050634 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.836dup (p.Cys279fs) duplication Pathogenic 211332 rs797045670 12:49447261-49447262 12:49053478-49053479 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.303del (p.Ser102fs) deletion Pathogenic 211323 rs797045661 12:49448408-49448408 12:49054625-49054625 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11275C>T (p.Gln3759Ter) SNV Pathogenic 216954 rs863224890 12:49427213-49427213 12:49033430-49033430 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.400+1G>C SNV Pathogenic 158763 rs587783714 12:49448310-49448310 12:49054527-49054527 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.256G>T (p.Glu86Ter) SNV Pathogenic 158755 rs587783708 12:49448455-49448455 12:49054672-49054672 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.13884del (p.Thr4629fs) deletion Pathogenic 267267 rs886040960 12:49424178-49424178 12:49030395-49030395 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11770C>T (p.Gln3924Ter) SNV Pathogenic 279603 rs886041106 12:49426718-49426718 12:49032935-49032935 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14075+1G>A SNV Pathogenic 369674 rs1057516039 12:49423183-49423183 12:49029400-49029400 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12844C>T (p.Arg4282Ter) SNV Pathogenic 372805 rs1057517992 12:49425644-49425644 12:49031861-49031861 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7411C>T (p.Arg2471Ter) SNV Pathogenic 373723 rs1057518571 12:49434142-49434142 12:49040359-49040359 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11471_11474ACAG[1] (p.Gln3826fs) short repeat Pathogenic 375267 rs1057519067 12:49427010-49427013 12:49033227-49033230 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.466G>T (p.Glu156Ter) SNV Pathogenic 375574 rs1057519422 12:49448134-49448134 12:49054351-49054351 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2994del (p.Pro998_Met999insTer) deletion Pathogenic 375634 rs1057519595 12:49444377-49444377 12:49050594-49050594 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.16501C>T (p.Arg5501Ter) SNV Pathogenic/Likely pathogenic 280126 rs886041398 12:49415846-49415846 12:49022063-49022063 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15143G>A (p.Arg5048His) SNV Pathogenic/Likely pathogenic 280132 rs886041404 12:49420606-49420606 12:49026823-49026823 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.13996_13997del (p.Arg4666fs) deletion Pathogenic/Likely pathogenic 158732 rs587783693 12:49424065-49424066 12:49030282-49030283 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15461G>A (p.Arg5154Gln) SNV Pathogenic/Likely pathogenic 286834 rs886043497 12:49420288-49420288 12:49026505-49026505 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5120_5121AC[2] (p.Arg1709fs) short repeat Pathogenic/Likely pathogenic 286876 rs886043506 12:49438046-49438047 12:49044263-49044264 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.1329_1332del (p.Pro444fs) deletion Pathogenic/Likely pathogenic 158728 rs587783689 12:49446134-49446137 12:49052351-49052354 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8743C>T (p.Arg2915Ter) SNV Pathogenic/Likely pathogenic 158790 rs587783729 12:49432396-49432396 12:49038613-49038613 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8171_8175del (p.Pro2724fs) deletion Pathogenic/Likely pathogenic 158788 rs587783728 12:49433272-49433276 12:49039489-49039493 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8053C>T (p.Arg2685Ter) SNV Pathogenic/Likely pathogenic 158787 rs587783727 12:49433394-49433394 12:49039611-49039611 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11290C>T (p.Gln3764Ter) SNV Pathogenic/Likely pathogenic 158716 rs587783682 12:49427198-49427198 12:49033415-49033415 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15061C>T (p.Arg5021Ter) SNV Pathogenic/Likely pathogenic 158734 rs587783695 12:49420688-49420688 12:49026905-49026905 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12896del (p.Gly4299fs) deletion Pathogenic/Likely pathogenic 158724 rs587783686 12:49425592-49425592 12:49031809-49031809 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4135_4136del (p.Met1379fs) deletion Pathogenic/Likely pathogenic 94216 rs398123744 12:49441848-49441849 12:49048065-49048066 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15641G>A (p.Arg5214His) SNV Pathogenic/Likely pathogenic 94185 rs398123729 12:49420108-49420108 12:49026325-49026325 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15536G>A (p.Arg5179His) SNV Pathogenic/Likely pathogenic 7536 rs267607237 12:49420213-49420213 12:49026430-49026430 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11692C>T (p.Gln3898Ter) SNV Pathogenic/Likely pathogenic 94151 rs398123708 12:49426796-49426796 12:49033013-49033013 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.1940del (p.Pro647fs) deletion Pathogenic/Likely pathogenic 547404 rs770315135 12:49445526-49445526 12:49051743-49051743 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5627_5630del (p.Asp1876fs) deletion Pathogenic/Likely pathogenic 547432 rs1555193738 12:49436873-49436876 12:49043090-49043093 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8401C>T (p.Arg2801Ter) SNV Pathogenic/Likely pathogenic 547454 rs1555191203 12:49432738-49432738 12:49038955-49038955 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.10999C>T (p.Gln3667Ter) SNV Pathogenic/Likely pathogenic 547470 rs1555189038 12:49427489-49427489 12:49033706-49033706 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.16342C>T (p.Arg5448Ter) SNV Pathogenic/Likely pathogenic 531888 rs1422752351 12:49416133-49416133 12:49022350-49022350 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11422del (p.Ala3808fs) deletion Pathogenic/Likely pathogenic 531881 rs1555188704 12:49427066-49427066 12:49033283-49033283 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11743C>T (p.Gln3915Ter) SNV Pathogenic/Likely pathogenic 531880 rs1555188518 12:49426745-49426745 12:49032962-49032962 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14713C>T (p.Gln4905Ter) SNV Pathogenic/Likely pathogenic 504375 rs1555186053 12:49421036-49421036 12:49027253-49027253 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.1143del (p.Thr382fs) deletion Pathogenic/Likely pathogenic 422962 rs1064796125 12:49446462-49446462 12:49052679-49052679 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12268C>T (p.Gln4090Ter) SNV Pathogenic/Likely pathogenic 430810 rs1555188155 12:49426220-49426220 12:49032437-49032437 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11800C>T (p.Gln3934Ter) SNV Likely pathogenic 430817 rs1555188469 12:49426688-49426688 12:49032905-49032905 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14515+1G>T SNV Likely pathogenic 430809 rs1555186232 12:49421791-49421791 12:49028008-49028008 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15920_15921insT (p.Leu5308fs) insertion Likely pathogenic 430814 rs1555185301 12:49418593-49418594 12:49024810-49024811 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.840-2A>G SNV Likely pathogenic 463023 rs1555198201 12:49447106-49447106 12:49053323-49053323 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.125C>T (p.Ser42Phe) SNV Likely pathogenic 438838 rs1555198886 12:49448734-49448734 12:49054951-49054951 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4237-2A>G SNV Likely pathogenic 463016 rs797045001 12:49440575-49440575 12:49046792-49046792 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.9306del (p.Ala3103fs) deletion Likely pathogenic 488440 rs1555190635 12:49431833-49431833 12:49038050-49038050 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.13378_13379insCA (p.His4460fs) insertion Likely pathogenic 488540 rs1555187452 12:49425109-49425110 12:49031326-49031327 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15921+1G>A SNV Likely pathogenic 463011 rs1555185299 12:49418592-49418592 12:49024809-49024809 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4222T>G (p.Cys1408Gly) SNV Likely pathogenic 531883 rs1555195432 12:49441762-49441762 12:49047979-49047979 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.16338+2T>C SNV Likely pathogenic 531882 rs1555184777 12:49416371-49416371 12:49022588-49022588 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.16338+1G>T SNV Likely pathogenic 547509 rs1555184782 12:49416372-49416372 12:49022589-49022589 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.16470del (p.Glu5491fs) deletion Likely pathogenic 547511 rs1555184624 12:49415877-49415877 12:49022094-49022094 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14833delinsAA (p.Pro4945fs) indel Likely pathogenic 547498 rs1555185978 12:49420916-49420916 12:49027133-49027133 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14722del (p.Ala4908fs) deletion Likely pathogenic 547497 rs1555186044 12:49421027-49421027 12:49027244-49027244 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14669_14672del (p.Thr4890fs) deletion Likely pathogenic 547496 rs1555186087 12:49421077-49421080 12:49027294-49027297 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14515+1G>A SNV Likely pathogenic 547495 rs1555186232 12:49421791-49421791 12:49028008-49028008 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14469del (p.Ala4824fs) deletion Likely pathogenic 547494 rs1555186257 12:49421838-49421838 12:49028055-49028055 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14189G>A (p.Trp4730Ter) SNV Likely pathogenic 547493 rs1555186527 12:49422906-49422906 12:49029123-49029123 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14053_14054CA[1] (p.His4685fs) short repeat Likely pathogenic 547492 rs1555186627 12:49423203-49423204 12:49029420-49029421 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14000-3C>G SNV Likely pathogenic 547491 rs1355372507 12:49423262-49423262 12:49029479-49029479 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.16125del (p.Tyr5376fs) deletion Likely pathogenic 547507 rs1555184893 12:49416586-49416586 12:49022803-49022803 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15731_15732del (p.Lys5244fs) deletion Likely pathogenic 547506 rs1555185610 12:49420017-49420018 12:49026234-49026235 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.13367C>G (p.Ser4456Ter) SNV Likely pathogenic 547489 rs1555187461 12:49425121-49425121 12:49031338-49031338 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.13346del (p.Leu4449fs) deletion Likely pathogenic 547488 rs1555187485 12:49425142-49425142 12:49031359-49031359 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.13213C>T (p.Gln4405Ter) SNV Likely pathogenic 547487 rs1555187575 12:49425275-49425275 12:49031492-49031492 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.13026_13027dup (p.Thr4343fs) duplication Likely pathogenic 547486 rs1555187741 12:49425460-49425461 12:49031677-49031678 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12808C>T (p.Gln4270Ter) SNV Likely pathogenic 547485 rs1555187869 12:49425680-49425680 12:49031897-49031897 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15583C>T (p.Gln5195Ter) SNV Likely pathogenic 547503 rs1555185699 12:49420166-49420166 12:49026383-49026383 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15286C>T (p.Gln5096Ter) SNV Likely pathogenic 547500 rs1555185817 12:49420463-49420463 12:49026680-49026680 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12546dup (p.Gln4183fs) duplication Likely pathogenic 547482 rs1555188026 12:49425941-49425942 12:49032158-49032159 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12469C>T (p.Gln4157Ter) SNV Likely pathogenic 547481 rs1555188080 12:49426019-49426019 12:49032236-49032236 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11848C>T (p.Gln3950Ter) SNV Likely pathogenic 547480 rs1555188430 12:49426640-49426640 12:49032857-49032857 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11739del (p.Gln3913fs) deletion Likely pathogenic 547478 rs1555188520 12:49426749-49426749 12:49032966-49032966 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11710C>T (p.Gln3904Ter) SNV Likely pathogenic 547477 rs1555188537 12:49426778-49426778 12:49032995-49032995 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11633_11634AG[1] (p.Leu3880fs) short repeat Likely pathogenic 547476 rs1555188561 12:49426852-49426853 12:49033069-49033070 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.10653dup (p.Ala3552fs) duplication Likely pathogenic 547469 rs763440821 12:49427936-49427937 12:49034153-49034154 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.10440+2T>G SNV Likely pathogenic 547466 rs1555189421 12:49428363-49428363 12:49034580-49034580 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.10378C>T (p.Gln3460Ter) SNV Likely pathogenic 547465 rs1555189450 12:49428427-49428427 12:49034644-49034644 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.10090C>T (p.Gln3364Ter) SNV Likely pathogenic 547464 rs1210590639 12:49431049-49431049 12:49037266-49037266 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.9595del (p.Ser3199fs) deletion Likely pathogenic 547463 rs1555190391 12:49431544-49431544 12:49037761-49037761 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.9417del (p.Lys3140fs) deletion Likely pathogenic 547461 rs1555190550 12:49431722-49431722 12:49037939-49037939 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8952del (p.Lys2985fs) deletion Likely pathogenic 547460 rs1555190806 12:49432187-49432187 12:49038404-49038404 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8859_8861delinsCA (p.Lys2953fs) indel Likely pathogenic 547459 rs1555190907 12:49432278-49432280 12:49038495-49038497 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11470_11471CA[1] (p.His3824fs) short repeat Likely pathogenic 547473 rs1555188670 12:49427015-49427016 12:49033232-49033233 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11456del (p.Gly3819fs) deletion Likely pathogenic 547472 rs1555188687 12:49427032-49427032 12:49033249-49033249 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8516C>G (p.Ser2839Ter) SNV Likely pathogenic 547457 rs1555191147 12:49432623-49432623 12:49038840-49038840 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8474_8477dup (p.Thr2827fs) duplication Likely pathogenic 547456 rs1555191177 12:49432661-49432662 12:49038878-49038879 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8350_8351del (p.Met2784fs) deletion Likely pathogenic 547453 rs1555191324 12:49433020-49433021 12:49039237-49039238 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7479dup (p.Phe2494fs) duplication Likely pathogenic 547447 rs1555192051 12:49434073-49434074 12:49040290-49040291 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7426G>T (p.Glu2476Ter) SNV Likely pathogenic 547445 rs1555192113 12:49434127-49434127 12:49040344-49040344 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6992del (p.Leu2331fs) deletion Likely pathogenic 547440 rs1555192437 12:49434561-49434561 12:49040778-49040778 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6966dup (p.Thr2323fs) duplication Likely pathogenic 547439 rs1555192451 12:49434586-49434587 12:49040803-49040804 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6955dup (p.Leu2319fs) duplication Likely pathogenic 547438 rs1555192457 12:49434597-49434598 12:49040814-49040815 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6844del (p.Arg2282fs) deletion Likely pathogenic 547437 rs1555192531 12:49434709-49434709 12:49040926-49040926 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7287_7290TCTG[1] (p.Ser2431fs) short repeat Likely pathogenic 547443 rs1555192210 12:49434259-49434262 12:49040476-49040479 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7282del (p.Arg2428fs) deletion Likely pathogenic 547442 rs1555192218 12:49434271-49434271 12:49040488-49040488 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6594dup (p.Tyr2199fs) duplication Likely pathogenic 547435 rs1555192751 12:49434958-49434959 12:49041175-49041176 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5597del (p.Pro1866fs) deletion Likely pathogenic 547431 rs1555193755 12:49436906-49436906 12:49043123-49043123 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5467G>T (p.Gly1823Ter) SNV Likely pathogenic 547430 rs1555193912 12:49437418-49437418 12:49043635-49043635 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8025_8026AG[1] (p.Glu2676fs) short repeat Likely pathogenic 547451 rs1555191665 12:49433525-49433526 12:49039742-49039743 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5135_5136del (p.Lys1712fs) deletion Likely pathogenic 547428 rs1555194236 12:49438035-49438036 12:49044252-49044253 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5058dup (p.Arg1687fs) duplication Likely pathogenic 547427 rs1555194303 12:49438210-49438211 12:49044427-49044428 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4131G>A (p.Gln1377=) SNV Likely pathogenic 547418 rs764942 12:49442442-49442442 12:49048659-49048659 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4130A>C (p.Gln1377Pro) SNV Likely pathogenic 547417 rs1555195573 12:49442443-49442443 12:49048660-49048660 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4762G>T (p.Glu1588Ter) SNV Likely pathogenic 547425 rs1290729871 12:49438728-49438728 12:49044945-49044945 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4710del (p.Glu1571fs) deletion Likely pathogenic 547423 rs1555194822 12:49439734-49439734 12:49045951-49045951 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2819C>G (p.Ser940Ter) SNV Likely pathogenic 547411 rs1555196590 12:49444552-49444552 12:49050769-49050769 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4395dup (p.Lys1466fs) duplication Likely pathogenic 547421 rs1555195118 12:49440414-49440415 12:49046631-49046632 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2110_2113delinsTC (p.Asp704fs) indel Likely pathogenic 547405 rs1555197101 12:49445353-49445356 12:49051570-49051573 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3789_3790del (p.Leu1264fs) deletion Likely pathogenic 547415 rs1555196016 12:49443581-49443582 12:49049798-49049799 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3649dup (p.Ser1217fs) duplication Likely pathogenic 547414 rs1555196084 12:49443721-49443722 12:49049938-49049939 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3019_3020del (p.Ser1007fs) deletion Likely pathogenic 547413 rs1555196459 12:49444351-49444352 12:49050568-49050569 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2578_2579del (p.Leu860fs) deletion Likely pathogenic 547409 rs1555196742 12:49444887-49444888 12:49051104-49051105 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2546C>A (p.Ser849Ter) SNV Likely pathogenic 547408 rs370492566 12:49444920-49444920 12:49051137-49051137 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2263dup (p.Arg755fs) duplication Likely pathogenic 547407 rs1555196984 12:49445202-49445203 12:49051419-49051420 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4359C>G (p.His1453Gln) SNV Likely pathogenic 565471 rs767737749 12:49440451-49440451 12:49046668-49046668 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.49+1del deletion Likely pathogenic 576532 rs1565826250 12:49449058-49449058 12:49055275-49055275 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.10502T>G (p.Val3501Gly) SNV Likely pathogenic 579770 rs1565781216 12:49428198-49428198 12:49034415-49034415 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.16019G>A (p.Arg5340Gln) SNV Likely pathogenic 562047 rs1565756106 12:49418394-49418394 12:49024611-49024611 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2515G>T (p.Glu839Ter) SNV Likely pathogenic 565306 rs781145102 12:49444951-49444951 12:49051168-49051168 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.838A>G (p.Arg280Gly) SNV Likely pathogenic 547400 rs1555198244 12:49447260-49447260 12:49053477-49053477 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.702del (p.Pro235fs) deletion Likely pathogenic 547399 rs1555198318 12:49447396-49447396 12:49053613-49053613 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.472_473TG[1] (p.Cys158fs) short repeat Likely pathogenic 547398 rs1555198590 12:49448125-49448126 12:49054342-49054343 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.423G>A (p.Trp141Ter) SNV Likely pathogenic 547396 rs1555198640 12:49448177-49448177 12:49054394-49054394 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.50-1G>T SNV Likely pathogenic 547394 rs1555198921 12:49448810-49448810 12:49055027-49055027 KBK002 Kabuki Syndrome 1 KDM6A NM_001291421.1(KDM6A):c.-571del deletion Likely pathogenic 547392 rs1555957146 X:44732859-44732859 X:44873613-44873613 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.15157_15162GACCTG[3] (p.5053_5054DL[3]) short repeat Likely pathogenic 807441 12:49420580-49420581 12:49026797-49026798 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5868-1G>A SNV Likely pathogenic 652223 12:49436114-49436114 12:49042331-49042331 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14076-2A>C SNV Likely pathogenic 660941 12:49423021-49423021 12:49029238-49029238 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5319+1G>A SNV Likely pathogenic 657231 12:49437650-49437650 12:49043867-49043867 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15089G>A (p.Arg5030His) SNV Likely pathogenic 689727 12:49420660-49420660 12:49026877-49026877 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4262G>A (p.Gly1421Asp) SNV Likely pathogenic 619995 rs1565807707 12:49440548-49440548 12:49046765-49046765 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.1395dup (p.Arg466fs) duplication Likely pathogenic 625276 rs1565820584 12:49446070-49446071 12:49052287-49052288 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.4981del (p.Glu1661fs) deletion Likely pathogenic 870472 12:49438288-49438288 12:49044505-49044505 KBK002 Kabuki Syndrome 1 KMT2D NC_000012.12:g.49025253_49030915del deletion Likely pathogenic 862877 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.15629A>G (p.Tyr5210Cys) SNV Likely pathogenic 864037 12:49420120-49420120 12:49026337-49026337 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4214A>G (p.His1405Arg) SNV Likely pathogenic 598764 rs1565809463 12:49441770-49441770 12:49047987-49047987 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5166del (p.Ser1722fs) deletion Likely pathogenic 135631 rs367537992 12:49438005-49438005 12:49044222-49044222 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.16413G>T (p.Arg5471Ser) SNV Likely pathogenic 158743 rs587783702 12:49415934-49415934 12:49022151-49022151 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.16411A>T (p.Arg5471Trp) SNV Likely pathogenic 158741 rs587783700 12:49416064-49416064 12:49022281-49022281 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7481dup (p.Ala2496fs) duplication Likely pathogenic 183374 rs35584294 12:49434071-49434072 12:49040288-49040289 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11796_11813del (p.Gln3934_Gln3939del) deletion Likely pathogenic 183376 rs759803583 12:49426675-49426692 12:49032892-49032909 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.9961C>T (p.Arg3321Ter) SNV Likely pathogenic 183371 rs793888512 12:49431178-49431178 12:49037395-49037395 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.16413-1G>C SNV Likely pathogenic 183375 rs793888515 12:49415935-49415935 12:49022152-49022152 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15235_15238del (p.Asn5079fs) deletion Likely pathogenic 183373 rs793888514 12:49420511-49420514 12:49026728-49026731 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14732C>T (p.Pro4911Leu) SNV Likely pathogenic 183377 rs183347186 12:49421017-49421017 12:49027234-49027234 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14659G>T (p.Glu4887Ter) SNV Likely pathogenic 183372 rs793888513 12:49421090-49421090 12:49027307-49027307 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12688C>T (p.Gln4230Ter) SNV Likely pathogenic 183370 rs793888511 12:49425800-49425800 12:49032017-49032017 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2389C>G (p.Leu797Val) SNV Likely pathogenic 374296 rs1057518680 12:49445077-49445077 12:49051294-49051294 KBK002 Kabuki Syndrome 1 DNMT3B NM_006892.4(DNMT3B):c.1211A>G (p.Tyr404Cys) SNV Conflicting interpretations of pathogenicity 338163 rs143462810 20:31383299-31383299 20:32795493-32795493 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8068C>T (p.Leu2690=) SNV Conflicting interpretations of pathogenicity 309042 rs370846697 12:49433379-49433379 12:49039596-49039596 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.10741-7A>G SNV Conflicting interpretations of pathogenicity 309033 rs550510739 12:49427754-49427754 12:49033971-49033971 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7656T>C (p.Pro2552=) SNV Conflicting interpretations of pathogenicity 309044 rs774043426 12:49433897-49433897 12:49040114-49040114 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7122C>T (p.Tyr2374=) SNV Conflicting interpretations of pathogenicity 309047 rs765895211 12:49434431-49434431 12:49040648-49040648 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3813A>T (p.Leu1271=) SNV Conflicting interpretations of pathogenicity 285554 rs201794205 12:49443558-49443558 12:49049775-49049775 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14202C>T (p.Asp4734=) SNV Conflicting interpretations of pathogenicity 309008 rs200979074 12:49422893-49422893 12:49029110-49029110 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14161C>T (p.Arg4721Cys) SNV Conflicting interpretations of pathogenicity 309009 rs777064703 12:49422934-49422934 12:49029151-49029151 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4163G>T (p.Arg1388Leu) SNV Conflicting interpretations of pathogenicity 309065 rs202217665 12:49441821-49441821 12:49048038-49048038 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14436C>T (p.Pro4812=) SNV Conflicting interpretations of pathogenicity 309005 rs369799687 12:49421871-49421871 12:49028088-49028088 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12524C>A (p.Pro4175Gln) SNV Conflicting interpretations of pathogenicity 309022 rs200315963 12:49425964-49425964 12:49032181-49032181 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4865G>C (p.Gly1622Ala) SNV Conflicting interpretations of pathogenicity 309061 rs377457393 12:49438625-49438625 12:49044842-49044842 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2283_2309del (p.Ala765_Gln773del) deletion Conflicting interpretations of pathogenicity 193658 rs375538882 12:49445157-49445183 12:49051374-49051400 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6235-6C>G SNV Conflicting interpretations of pathogenicity 196683 rs373858319 12:49435324-49435324 12:49041541-49041541 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7301C>A (p.Ala2434Asp) SNV Conflicting interpretations of pathogenicity 196689 rs201114196 12:49434252-49434252 12:49040469-49040469 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7046C>T (p.Pro2349Leu) SNV Conflicting interpretations of pathogenicity 196690 rs201581582 12:49434507-49434507 12:49040724-49040724 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8047-7dup duplication Conflicting interpretations of pathogenicity 196782 rs200754433 12:49433406-49433407 12:49039623-49039624 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.10233C>T (p.Asp3411=) SNV Conflicting interpretations of pathogenicity 196955 rs148688181 12:49428717-49428717 12:49034934-49034934 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15230T>C (p.Leu5077Pro) SNV Conflicting interpretations of pathogenicity 197589 rs398123726 12:49420519-49420519 12:49026736-49026736 KBK002 Kabuki Syndrome 1 ZBTB24 NM_014797.2(ZBTB24):c.146G>A (p.Arg49Gln) SNV Conflicting interpretations of pathogenicity 252685 rs147441359 6:109803084-109803084 6:109481881-109481881 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.16522-4T>G SNV Conflicting interpretations of pathogenicity 288966 rs779139301 12:49415659-49415659 12:49021876-49021876 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14643+12G>A SNV Conflicting interpretations of pathogenicity 289695 rs186670730 12:49421574-49421574 12:49027791-49027791 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5526T>C (p.Asp1842=) SNV Conflicting interpretations of pathogenicity 290039 rs137955659 12:49437153-49437153 12:49043370-49043370 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.1725A>T (p.Pro575=) SNV Conflicting interpretations of pathogenicity 259055 rs371243627 12:49445741-49445741 12:49051958-49051958 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5181C>T (p.Pro1727=) SNV Conflicting interpretations of pathogenicity 282013 rs201686029 12:49437990-49437990 12:49044207-49044207 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7109G>C (p.Arg2370Pro) SNV Conflicting interpretations of pathogenicity 283811 rs373234419 12:49434444-49434444 12:49040661-49040661 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.16480_16482ATC[3] (p.Ile5497del) short repeat Conflicting interpretations of pathogenicity 158745 rs587783704 12:49415856-49415858 12:49022073-49022075 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14080G>C (p.Glu4694Gln) SNV Conflicting interpretations of pathogenicity 134726 rs587778483 12:49423015-49423015 12:49029232-49029232 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15671G>A (p.Arg5224His) SNV Conflicting interpretations of pathogenicity 134730 rs3782356 12:49420078-49420078 12:49026295-49026295 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15797G>A (p.Arg5266His) SNV Conflicting interpretations of pathogenicity 134731 rs201481646 12:49418717-49418717 12:49024934-49024934 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11886A>G (p.Gln3962=) SNV Conflicting interpretations of pathogenicity 158720 rs180784366 12:49426602-49426602 12:49032819-49032819 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7198C>G (p.Pro2400Ala) SNV Conflicting interpretations of pathogenicity 158784 rs35111108 12:49434355-49434355 12:49040572-49040572 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11043G>A (p.Gln3681=) SNV Conflicting interpretations of pathogenicity 158714 rs371444130 12:49427445-49427445 12:49033662-49033662 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7170G>A (p.Pro2390=) SNV Conflicting interpretations of pathogenicity 158782 rs3741625 12:49434383-49434383 12:49040600-49040600 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6807C>T (p.Ser2269=) SNV Conflicting interpretations of pathogenicity 158780 rs73302197 12:49434746-49434746 12:49040963-49040963 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6733C>G (p.Leu2245Val) SNV Conflicting interpretations of pathogenicity 158779 rs201931833 12:49434820-49434820 12:49041037-49041037 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4421G>A (p.Cys1474Tyr) SNV Conflicting interpretations of pathogenicity 158770 rs587783718 12:49440205-49440205 12:49046422-49046422 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4123C>T (p.Leu1375=) SNV Conflicting interpretations of pathogenicity 158765 rs1368572 12:49442450-49442450 12:49048667-49048667 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.1378C>A (p.Pro460Thr) SNV Conflicting interpretations of pathogenicity 167232 rs201089405 12:49446088-49446088 12:49052305-49052305 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6456C>T (p.Gly2152=) SNV Conflicting interpretations of pathogenicity 167225 rs727503985 12:49435097-49435097 12:49041314-49041314 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2232A>C (p.Ser744=) SNV Conflicting interpretations of pathogenicity 158752 rs200155807 12:49445234-49445234 12:49051451-49051451 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11723_11728AGCAAC[1] (p.Gln3910_Gln3911del) short repeat Conflicting interpretations of pathogenicity 94152 rs398123709 12:49426754-49426759 12:49032971-49032976 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.1187C>G (p.Pro396Arg) SNV Conflicting interpretations of pathogenicity 94153 rs377452989 12:49446418-49446418 12:49052635-49052635 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.16295G>A (p.Arg5432Gln) SNV Conflicting interpretations of pathogenicity 94191 rs398123734 12:49416416-49416416 12:49022633-49022633 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15142C>T (p.Arg5048Cys) SNV Conflicting interpretations of pathogenicity 94180 rs398123724 12:49420607-49420607 12:49026824-49026824 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12712C>T (p.Arg4238Cys) SNV Conflicting interpretations of pathogenicity 94160 rs398123714 12:49425776-49425776 12:49031993-49031993 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.13671+5dup duplication Conflicting interpretations of pathogenicity 94168 rs147210845 12:49424665-49424666 12:49030882-49030883 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.477T>G (p.Gly159=) SNV Conflicting interpretations of pathogenicity 94220 rs398123747 12:49448123-49448123 12:49054340-49054340 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.1797G>A (p.Leu599=) SNV Conflicting interpretations of pathogenicity 94194 rs113282510 12:49445669-49445669 12:49051886-49051886 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.1940C>A (p.Pro647Gln) SNV Conflicting interpretations of pathogenicity 94196 rs200088180 12:49445526-49445526 12:49051743-49051743 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2214C>T (p.Ser738=) SNV Conflicting interpretations of pathogenicity 94198 rs201219613 12:49445252-49445252 12:49051469-49051469 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2992C>A (p.Pro998Thr) SNV Conflicting interpretations of pathogenicity 94209 rs143711798 12:49444379-49444379 12:49050596-49050596 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6354C>T (p.Pro2118=) SNV Conflicting interpretations of pathogenicity 94236 rs377392943 12:49435199-49435199 12:49041416-49041416 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6435G>A (p.Pro2145=) SNV Conflicting interpretations of pathogenicity 94237 rs374077422 12:49435118-49435118 12:49041335-49041335 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6573G>A (p.Thr2191=) SNV Conflicting interpretations of pathogenicity 94238 rs202085637 12:49434980-49434980 12:49041197-49041197 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6752C>T (p.Ser2251Leu) SNV Conflicting interpretations of pathogenicity 94242 rs189199944 12:49434801-49434801 12:49041018-49041018 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7035G>A (p.Leu2345=) SNV Conflicting interpretations of pathogenicity 94244 rs398123756 12:49434518-49434518 12:49040735-49040735 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8774C>T (p.Ala2925Val) SNV Conflicting interpretations of pathogenicity 94260 rs199547661 12:49432365-49432365 12:49038582-49038582 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6811C>T (p.Pro2271Ser) SNV Conflicting interpretations of pathogenicity 134689 rs199802471 12:49434742-49434742 12:49040959-49040959 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7705G>A (p.Gly2569Ser) SNV Conflicting interpretations of pathogenicity 134697 rs201507971 12:49433848-49433848 12:49040065-49040065 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.9662C>A (p.Thr3221Asn) SNV Conflicting interpretations of pathogenicity 134707 rs200601717 12:49431477-49431477 12:49037694-49037694 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.10993C>G (p.Pro3665Ala) SNV Conflicting interpretations of pathogenicity 134711 rs112170602 12:49427495-49427495 12:49033712-49033712 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12485G>A (p.Arg4162Gln) SNV Conflicting interpretations of pathogenicity 715093 12:49426003-49426003 12:49032220-49032220 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5645-3C>T SNV Conflicting interpretations of pathogenicity 547433 rs544332856 12:49436664-49436664 12:49042881-49042881 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15565G>A (p.Gly5189Arg) SNV Conflicting interpretations of pathogenicity 547502 rs1555185701 12:49420184-49420184 12:49026401-49026401 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.13531-10T>C SNV Conflicting interpretations of pathogenicity 547490 rs769029919 12:49424826-49424826 12:49031043-49031043 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11738_11740AGC[8] (p.Gln3919dup) short repeat Conflicting interpretations of pathogenicity 497547 rs1555188499 12:49426729-49426730 12:49032946-49032947 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12634C>T (p.Arg4212Trp) SNV Conflicting interpretations of pathogenicity 445387 rs760279999 12:49425854-49425854 12:49032071-49032071 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15088C>T (p.Arg5030Cys) SNV Conflicting interpretations of pathogenicity 445885 rs1555185875 12:49420661-49420661 12:49026878-49026878 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7998C>A (p.Asp2666Glu) SNV Conflicting interpretations of pathogenicity 447672 rs1258008817 12:49433555-49433555 12:49039772-49039772 KBK002 Kabuki Syndrome 1 KMT2A NM_001197104.1(KMT2A):c.3019G>T (p.Gly1007Cys) SNV Conflicting interpretations of pathogenicity 430818 rs940325244 11:118344893-118344893 11:118474178-118474178 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11568_11570GCA[6] (p.Gln3863dup) short repeat Conflicting interpretations of pathogenicity 430812 rs748986705 12:49426905-49426906 12:49033122-49033123 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.185C>T (p.Pro62Leu) SNV Uncertain significance 430813 rs371342351 12:49448526-49448526 12:49054743-49054743 KBK002 Kabuki Syndrome 1 KMT2B NM_014727.2(KMT2B):c.7060G>A (p.Glu2354Lys) SNV Uncertain significance 430821 rs190929421 19:36224674-36224674 19:35733773-35733773 KBK002 Kabuki Syndrome 1 HCFC1 NM_005334.3(HCFC1):c.4086C>T (p.Thr1362=) SNV Uncertain significance 430820 rs1388599232 X:153219764-153219764 X:153954313-153954313 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.13715A>G (p.Asn4572Ser) SNV Uncertain significance 430811 rs777292389 12:49424508-49424508 12:49030725-49030725 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.9436G>A (p.Ala3146Thr) SNV Uncertain significance 463024 rs1555190522 12:49431703-49431703 12:49037920-49037920 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11278G>A (p.Gly3760Ser) SNV Uncertain significance 445703 rs373071174 12:49427210-49427210 12:49033427-49033427 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7571C>T (p.Thr2524Met) SNV Uncertain significance 499552 rs760263014 12:49433982-49433982 12:49040199-49040199 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.376C>G (p.Pro126Ala) SNV Uncertain significance 502301 rs1311872208 12:49448335-49448335 12:49054552-49054552 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14644-3C>G SNV Uncertain significance 463009 rs1555186093 12:49421108-49421108 12:49027325-49027325 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.175A>G (p.Ser59Gly) SNV Uncertain significance 463013 rs1555198862 12:49448684-49448684 12:49054901-49054901 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6042G>T (p.Gln2014His) SNV Uncertain significance 463018 rs1161895683 12:49435939-49435939 12:49042156-49042156 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15080G>A (p.Arg5027Gln) SNV Uncertain significance 521617 rs774403945 12:49420669-49420669 12:49026886-49026886 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11815C>G (p.Gln3939Glu) SNV Uncertain significance 523668 rs1326092141 12:49426673-49426673 12:49032890-49032890 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.839+3A>G SNV Uncertain significance 531889 rs1555198242 12:49447256-49447256 12:49053473-49053473 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.10774A>G (p.Met3592Val) SNV Uncertain significance 531884 rs372758101 12:49427714-49427714 12:49033931-49033931 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.16211C>G (p.Ser5404Cys) SNV Uncertain significance 547508 rs1555184837 12:49416500-49416500 12:49022717-49022717 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6518C>T (p.Ser2173Leu) SNV Uncertain significance 531879 rs765654409 12:49435035-49435035 12:49041252-49041252 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12478C>G (p.Leu4160Val) SNV Uncertain significance 531887 rs1437975816 12:49426010-49426010 12:49032227-49032227 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15499A>G (p.Ser5167Gly) SNV Uncertain significance 547501 rs752976776 12:49420250-49420250 12:49026467-49026467 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12566G>C (p.Gly4189Ala) SNV Uncertain significance 547483 rs532360713 12:49425922-49425922 12:49032139-49032139 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11599C>A (p.Gln3867Lys) SNV Uncertain significance 547475 rs1200655258 12:49426889-49426889 12:49033106-49033106 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15589G>A (p.Ala5197Thr) SNV Uncertain significance 547504 rs1555185696 12:49420160-49420160 12:49026377-49026377 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6608C>T (p.Thr2203Met) SNV Uncertain significance 547436 rs770692765 12:49434945-49434945 12:49041162-49041162 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7366C>T (p.Arg2456Cys) SNV Uncertain significance 547444 rs754060706 12:49434187-49434187 12:49040404-49040404 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8137G>A (p.Ala2713Thr) SNV Uncertain significance 547452 rs748969707 12:49433310-49433310 12:49039527-49039527 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8405C>T (p.Ala2802Val) SNV Uncertain significance 547455 rs1239905273 12:49432734-49432734 12:49038951-49038951 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8579G>A (p.Arg2860His) SNV Uncertain significance 547458 rs377747403 12:49432560-49432560 12:49038777-49038777 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.10522C>T (p.Arg3508Trp) SNV Uncertain significance 547468 rs777638253 12:49428068-49428068 12:49034285-49034285 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.10467G>T (p.Gln3489His) SNV Uncertain significance 547467 rs535351117 12:49428233-49428233 12:49034450-49034450 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4766G>A (p.Gly1589Asp) SNV Uncertain significance 547426 rs1555194524 12:49438724-49438724 12:49044941-49044941 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4569C>G (p.Cys1523Trp) SNV Uncertain significance 547422 rs1555194993 12:49440057-49440057 12:49046274-49046274 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3982C>T (p.Arg1328Trp) SNV Uncertain significance 547416 rs754797404 12:49442926-49442926 12:49049143-49049143 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4160G>T (p.Gly1387Val) SNV Uncertain significance 547419 rs1555195461 12:49441824-49441824 12:49048041-49048041 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2992C>T (p.Pro998Ser) SNV Uncertain significance 547412 rs143711798 12:49444379-49444379 12:49050596-49050596 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.1939C>A (p.Pro647Thr) SNV Uncertain significance 547403 rs200106242 12:49445527-49445527 12:49051744-49051744 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.941C>G (p.Ser314Cys) SNV Uncertain significance 547401 rs1043654062 12:49447003-49447003 12:49053220-49053220 KBK002 Kabuki Syndrome 1 KDM6A NM_021140.3(KDM6A):c.2743T>C (p.Leu915=) SNV Uncertain significance 547393 rs374328447 X:44935982-44935982 X:45076737-45076737 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.176+15G>A SNV Uncertain significance 547395 rs1415205254 12:49448668-49448668 12:49054885-49054885 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.432A>G (p.Ala144=) SNV Uncertain significance 547397 rs1555198633 12:49448168-49448168 12:49054385-49054385 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8506C>T (p.Arg2836Cys) SNV Uncertain significance 561047 rs1346754879 12:49432633-49432633 12:49038850-49038850 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.9822_9824GCA[5] (p.Gln3282dup) short repeat Uncertain significance 572330 rs768814728 12:49431306-49431308 12:49037522-49037523 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7967T>C (p.Leu2656Ser) SNV Uncertain significance 570778 rs1014845953 12:49433586-49433586 12:49039803-49039803 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7169C>T (p.Pro2390Leu) SNV Uncertain significance 576336 rs866926540 12:49434384-49434384 12:49040601-49040601 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11408G>C (p.Gly3803Ala) SNV Uncertain significance 575673 rs912279409 12:49427080-49427080 12:49033297-49033297 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.307C>T (p.Pro103Ser) SNV Uncertain significance 575200 rs976882824 12:49448404-49448404 12:49054621-49054621 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11681T>C (p.Met3894Thr) SNV Uncertain significance 581343 rs1443728446 12:49426807-49426807 12:49033024-49033024 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.9266T>C (p.Val3089Ala) SNV Uncertain significance 581773 rs1565787643 12:49431873-49431873 12:49038090-49038090 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4151_4152delinsAA (p.Gly1384Glu) indel Uncertain significance 571405 rs1565809602 12:49441832-49441833 12:49048049-49048050 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.624A>G (p.Lys208=) SNV Uncertain significance 577100 rs1565823783 12:49447810-49447810 12:49054027-49054027 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7649C>A (p.Pro2550His) SNV Uncertain significance 566460 rs368698254 12:49433904-49433904 12:49040121-49040121 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.1844C>G (p.Ser615Cys) SNV Uncertain significance 568232 rs1565819202 12:49445622-49445622 12:49051839-49051839 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11180G>A (p.Arg3727His) SNV Uncertain significance 597355 rs777628634 12:49427308-49427308 12:49033525-49033525 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.14893G>A (p.Ala4965Thr) SNV Uncertain significance 802848 12:49420856-49420856 12:49027073-49027073 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.14529G>T (p.Lys4843Asn) SNV Uncertain significance 802849 12:49421700-49421700 12:49027917-49027917 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.12889T>C (p.Ser4297Pro) SNV Uncertain significance 812061 12:49425599-49425599 12:49031816-49031816 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.12038G>A (p.Gly4013Glu) SNV Uncertain significance 811154 12:49426450-49426450 12:49032667-49032667 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12339A>G (p.Gly4113=) SNV Uncertain significance 651941 12:49426149-49426149 12:49032366-49032366 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12626C>T (p.Pro4209Leu) SNV Uncertain significance 649010 12:49425862-49425862 12:49032079-49032079 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15341A>C (p.His5114Pro) SNV Uncertain significance 625968 rs1565759674 12:49420408-49420408 12:49026625-49026625 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11849A>G (p.Gln3950Arg) SNV Uncertain significance 625969 rs751367935 12:49426639-49426639 12:49032856-49032856 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7328G>T (p.Arg2443Leu) SNV Uncertain significance 625970 rs780776865 12:49434225-49434225 12:49040442-49040442 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7001G>A (p.Arg2334Gln) SNV Uncertain significance 625971 rs757300574 12:49434552-49434552 12:49040769-49040769 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6902C>T (p.Pro2301Leu) SNV Uncertain significance 626128 rs1565794840 12:49434651-49434651 12:49040868-49040868 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5267G>A (p.Arg1756Gln) SNV Uncertain significance 625967 rs908795312 12:49437703-49437703 12:49043920-49043920 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.1408C>T (p.Pro470Ser) SNV Uncertain significance 626129 rs761594079 12:49446058-49446058 12:49052275-49052275 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.9002A>G (p.Lys3001Arg) SNV Uncertain significance 634588 rs371231725 12:49432137-49432137 12:49038354-49038354 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11717_11752del (p.3900_3905LQQQQQ[1]) deletion Uncertain significance 638512 12:49426736-49426771 12:49032953-49032988 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.1893_1919del (p.Asp632_Glu640del) deletion Uncertain significance 638391 12:49445547-49445573 12:49051764-49051790 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7490C>T (p.Ala2497Val) SNV Uncertain significance 134692 rs376603595 12:49434063-49434063 12:49040280-49040280 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6284G>A (p.Arg2095His) SNV Uncertain significance 134693 rs374216845 12:49435269-49435269 12:49041486-49041486 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2186C>T (p.Pro729Leu) SNV Uncertain significance 134665 rs587778452 12:49445280-49445280 12:49051497-49051497 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3392C>T (p.Pro1131Leu) SNV Uncertain significance 134672 rs201623566 12:49443979-49443979 12:49050196-49050196 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.305G>A (p.Ser102Asn) SNV Uncertain significance 134685 rs368471915 12:49448406-49448406 12:49054623-49054623 KBK002 Kabuki Syndrome 1 KDM6A NM_021140.3(KDM6A):c.660A>T (p.Lys220Asn) SNV Uncertain significance 134601 rs587778423 X:44910959-44910959 X:45051714-45051714 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5319+3G>A SNV Uncertain significance 94227 rs372897046 12:49437648-49437648 12:49043865-49043865 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3688C>T (p.Pro1230Ser) SNV Uncertain significance 646185 12:49443683-49443683 12:49049900-49049900 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11150A>C (p.Gln3717Pro) SNV Uncertain significance 94147 rs398123705 12:49427338-49427338 12:49033555-49033555 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.16391C>T (p.Thr5464Met) SNV Uncertain significance 7539 rs267607238 12:49416084-49416084 12:49022301-49022301 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.14382+5G>A SNV Uncertain significance 849564 12:49422606-49422606 12:49028823-49028823 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.12637C>T (p.His4213Tyr) SNV Uncertain significance 870384 12:49425851-49425851 12:49032068-49032068 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.14057A>C (p.Asn4686Thr) SNV Uncertain significance 873526 12:49423202-49423202 12:49029419-49029419 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.4903C>T (p.Leu1635Phe) SNV Uncertain significance 841816 12:49438587-49438587 12:49044804-49044804 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.7852C>T (p.Pro2618Ser) SNV Uncertain significance 835334 12:49433701-49433701 12:49039918-49039918 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.7367G>A (p.Arg2456His) SNV Uncertain significance 859411 12:49434186-49434186 12:49040403-49040403 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.7157G>A (p.Arg2386Gln) SNV Uncertain significance 863075 12:49434396-49434396 12:49040613-49040613 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.6553C>A (p.Leu2185Met) SNV Uncertain significance 862099 12:49435000-49435000 12:49041217-49041217 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.9970G>C (p.Gly3324Arg) SNV Uncertain significance 855273 12:49431169-49431169 12:49037386-49037386 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.9596G>A (p.Ser3199Asn) SNV Uncertain significance 856236 12:49431543-49431543 12:49037760-49037760 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.9564G>A (p.Thr3188=) SNV Uncertain significance 847969 12:49431575-49431575 12:49037792-49037792 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.9328C>T (p.Arg3110Cys) SNV Uncertain significance 860293 12:49431811-49431811 12:49038028-49038028 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.793C>T (p.Arg265Cys) SNV Uncertain significance 811153 12:49447305-49447305 12:49053522-49053522 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.10640G>A (p.Arg3547His) SNV Uncertain significance 827983 12:49427950-49427950 12:49034167-49034167 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.13487C>T (p.Ala4496Val) SNV Uncertain significance 856639 12:49425001-49425001 12:49031218-49031218 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.13138C>A (p.Pro4380Thr) SNV Uncertain significance 852881 12:49425350-49425350 12:49031567-49031567 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.1467G>A (p.Leu489=) SNV Uncertain significance 649947 12:49445999-49445999 12:49052216-49052216 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2078C>A (p.Pro693His) SNV Uncertain significance 158750 rs76663644 12:49445388-49445388 12:49051605-49051605 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2657C>T (p.Pro886Leu) SNV Uncertain significance 158756 rs587783709 12:49444809-49444809 12:49051026-49051026 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4083G>C (p.Gln1361His) SNV Uncertain significance 158764 rs764941 12:49442490-49442490 12:49048707-49048707 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3803A>C (p.Asp1268Ala) SNV Uncertain significance 158761 rs74643880 12:49443568-49443568 12:49049785-49049785 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.968G>A (p.Cys323Tyr) SNV Uncertain significance 158792 rs78617409 12:49446842-49446842 12:49053059-49053059 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4418+5G>A SNV Uncertain significance 158769 rs587783717 12:49440387-49440387 12:49046604-49046604 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4343G>A (p.Cys1448Tyr) SNV Uncertain significance 158768 rs587783716 12:49440467-49440467 12:49046684-49046684 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4131G>C (p.Gln1377His) SNV Uncertain significance 158766 rs764942 12:49442442-49442442 12:49048659-49048659 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6640G>A (p.Ala2214Thr) SNV Uncertain significance 158777 rs587783724 12:49434913-49434913 12:49041130-49041130 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6844C>T (p.Arg2282Trp) SNV Uncertain significance 158781 rs587783726 12:49434709-49434709 12:49040926-49040926 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8360A>C (p.Asn2787Thr) SNV Uncertain significance 158789 rs78415116 12:49433011-49433011 12:49039228-49039228 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.10444C>T (p.Arg3482Trp) SNV Uncertain significance 158713 rs201127814 12:49428256-49428256 12:49034473-49034473 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.10312G>A (p.Val3438Met) SNV Uncertain significance 158712 rs35087111 12:49428638-49428638 12:49034855-49034855 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11563G>C (p.Ala3855Pro) SNV Uncertain significance 158718 rs77538244 12:49426925-49426925 12:49033142-49033142 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14840C>A (p.Pro4947His) SNV Uncertain significance 158733 rs587783694 12:49420909-49420909 12:49027126-49027126 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12270G>A (p.Gln4090=) SNV Uncertain significance 158721 rs370665309 12:49426218-49426218 12:49032435-49032435 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.16412+13G>A SNV Uncertain significance 158742 rs587783701 12:49416050-49416050 12:49022267-49022267 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12768C>T (p.Leu4256=) SNV Uncertain significance 158723 rs71464946 12:49425720-49425720 12:49031937-49031937 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15361G>T (p.Ala5121Ser) SNV Uncertain significance 158737 rs79330925 12:49420388-49420388 12:49026605-49026605 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15245T>G (p.Val5082Gly) SNV Uncertain significance 158736 rs75031009 12:49420504-49420504 12:49026721-49026721 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14984C>G (p.Thr4995Ser) SNV Uncertain significance 281653 rs886042207 12:49420765-49420765 12:49026982-49026982 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*1982del deletion Uncertain significance 308975 rs879897260 12:49413581-49413581 12:49019798-49019798 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*1505T>G SNV Uncertain significance 308981 rs886049462 12:49414058-49414058 12:49020275-49020275 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*108G>C SNV Uncertain significance 308996 rs886049470 12:49415455-49415455 12:49021672-49021672 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15694A>G (p.Ile5232Val) SNV Uncertain significance 309000 rs199593058 12:49420055-49420055 12:49026272-49026272 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.13630G>A (p.Gly4544Arg) SNV Uncertain significance 309012 rs778793714 12:49424717-49424717 12:49030934-49030934 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12945A>C (p.Gln4315His) SNV Uncertain significance 309017 rs886049474 12:49425543-49425543 12:49031760-49031760 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12803G>A (p.Gly4268Glu) SNV Uncertain significance 309018 rs368301050 12:49425685-49425685 12:49031902-49031902 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12682C>G (p.Gln4228Glu) SNV Uncertain significance 309021 rs745466012 12:49425806-49425806 12:49032023-49032023 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11195A>G (p.Gln3732Arg) SNV Uncertain significance 309030 rs886049477 12:49427293-49427293 12:49033510-49033510 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11178A>G (p.Gln3726=) SNV Uncertain significance 309031 rs753715045 12:49427310-49427310 12:49033527-49033527 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11162_11167TGCAGC[3] (p.3721_3722LQ[3]) short repeat Uncertain significance 309032 rs771711980 12:49427314-49427315 12:49033531-49033532 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7109G>A (p.Arg2370His) SNV Uncertain significance 167224 rs373234419 12:49434444-49434444 12:49040661-49040661 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2533C>T (p.Arg845Trp) SNV Uncertain significance 211320 rs746841307 12:49444933-49444933 12:49051150-49051150 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4584-10T>C SNV Uncertain significance 309063 rs755136735 12:49439967-49439967 12:49046184-49046184 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4571G>A (p.Arg1524His) SNV Uncertain significance 309064 rs886049483 12:49440055-49440055 12:49046272-49046272 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3352C>T (p.Leu1118=) SNV Uncertain significance 309071 rs765867951 12:49444019-49444019 12:49050236-49050236 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3161C>T (p.Pro1054Leu) SNV Uncertain significance 309075 rs758697574 12:49444210-49444210 12:49050427-49050427 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3156C>T (p.Pro1052=) SNV Uncertain significance 309076 rs770342892 12:49444215-49444215 12:49050432-49050432 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2420C>A (p.Ser807Tyr) SNV Uncertain significance 309081 rs757089451 12:49445046-49445046 12:49051263-49051263 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12691C>T (p.Leu4231=) SNV Uncertain significance 309020 rs760205474 12:49425797-49425797 12:49032014-49032014 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14207C>T (p.Ala4736Val) SNV Uncertain significance 309006 rs886049472 12:49422888-49422888 12:49029105-49029105 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14203C>T (p.Arg4735Trp) SNV Uncertain significance 309007 rs751383638 12:49422892-49422892 12:49029109-49029109 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2995A>G (p.Met999Val) SNV Uncertain significance 309077 rs368584537 12:49444376-49444376 12:49050593-49050593 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2671T>G (p.Leu891Val) SNV Uncertain significance 309080 rs886049485 12:49444795-49444795 12:49051012-49051012 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2406G>A (p.Glu802=) SNV Uncertain significance 309082 rs781090162 12:49445060-49445060 12:49051277-49051277 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3471C>T (p.Pro1157=) SNV Uncertain significance 309069 rs770863450 12:49443900-49443900 12:49050117-49050117 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*1982T>A SNV Uncertain significance 308976 rs886049459 12:49413581-49413581 12:49019798-49019798 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*1043del deletion Uncertain significance 308983 rs886049464 12:49414520-49414520 12:49020737-49020737 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*207C>T SNV Uncertain significance 308993 rs546353502 12:49415356-49415356 12:49021573-49021573 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*204C>G SNV Uncertain significance 308994 rs886049468 12:49415359-49415359 12:49021576-49021576 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*127C>G SNV Uncertain significance 308995 rs886049469 12:49415436-49415436 12:49021653-49021653 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.16566G>A (p.Lys5522=) SNV Uncertain significance 308998 rs757316408 12:49415611-49415611 12:49021828-49021828 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*296del deletion Uncertain significance 308992 rs745739172 12:49415267-49415267 12:49021484-49021484 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*69G>T SNV Uncertain significance 308997 rs886049471 12:49415494-49415494 12:49021711-49021711 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7060C>T (p.Pro2354Ser) SNV Uncertain significance 309048 rs369458206 12:49434493-49434493 12:49040710-49040710 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6868G>A (p.Glu2290Lys) SNV Uncertain significance 309050 rs886049480 12:49434685-49434685 12:49040902-49040902 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.13457A>G (p.Glu4486Gly) SNV Uncertain significance 309013 rs886049473 12:49425031-49425031 12:49031248-49031248 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11671G>A (p.Ala3891Thr) SNV Uncertain significance 309026 rs886049476 12:49426817-49426817 12:49033034-49033034 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.9958G>A (p.Ala3320Thr) SNV Uncertain significance 309036 rs763426078 12:49431181-49431181 12:49037398-49037398 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.9709G>A (p.Glu3237Lys) SNV Uncertain significance 309037 rs886049479 12:49431430-49431430 12:49037647-49037647 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.13871C>T (p.Ser4624Leu) SNV Uncertain significance 285849 rs886043233 12:49424191-49424191 12:49030408-49030408 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2737G>A (p.Glu913Lys) SNV Uncertain significance 309079 rs199724002 12:49444729-49444729 12:49050946-49050946 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.9959C>T (p.Ala3320Val) SNV Uncertain significance 309035 rs886049478 12:49431180-49431180 12:49037397-49037397 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6585C>T (p.Thr2195=) SNV Uncertain significance 309052 rs760993744 12:49434968-49434968 12:49041185-49041185 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5251_5253AAG[2] (p.Lys1753del) short repeat Uncertain significance 309059 rs886049482 12:49437711-49437713 12:49043928-49043930 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5231G>A (p.Ser1744Asn) SNV Uncertain significance 309060 rs377119237 12:49437739-49437739 12:49043956-49043956 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4000T>G (p.Ser1334Ala) SNV Uncertain significance 309066 rs750081274 12:49442908-49442908 12:49049125-49049125 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.188T>C (p.Val63Ala) SNV Uncertain significance 309092 rs886049488 12:49448523-49448523 12:49054740-49054740 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*1693G>A SNV Uncertain significance 308978 rs886049461 12:49413870-49413870 12:49020087-49020087 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*1529G>C SNV Uncertain significance 308980 rs765434154 12:49414034-49414034 12:49020251-49020251 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*1322A>G SNV Uncertain significance 308982 rs886049463 12:49414241-49414241 12:49020458-49020458 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*1026G>T SNV Uncertain significance 308985 rs886049465 12:49414537-49414537 12:49020754-49020754 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8901C>G (p.Pro2967=) SNV Uncertain significance 309038 rs767675707 12:49432238-49432238 12:49038455-49038455 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8230-14C>T SNV Uncertain significance 309040 rs755201719 12:49433155-49433155 12:49039372-49039372 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5648T>C (p.Leu1883Pro) SNV Uncertain significance 309056 rs370219057 12:49436658-49436658 12:49042875-49042875 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5594C>T (p.Thr1865Ile) SNV Uncertain significance 309057 rs886049481 12:49436909-49436909 12:49043126-49043126 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3976C>T (p.Arg1326Trp) SNV Uncertain significance 309067 rs886049484 12:49442932-49442932 12:49049149-49049149 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3298G>C (p.Asp1100His) SNV Uncertain significance 309072 rs745673119 12:49444073-49444073 12:49050290-49050290 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15686G>A (p.Arg5229His) SNV Uncertain significance 309001 rs201628357 12:49420063-49420063 12:49026280-49026280 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.13633G>T (p.Val4545Phe) SNV Uncertain significance 309011 rs753655111 12:49424714-49424714 12:49030931-49030931 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.13386C>T (p.Leu4462=) SNV Uncertain significance 309014 rs759673318 12:49425102-49425102 12:49031319-49031319 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.13071G>C (p.Arg4357Ser) SNV Uncertain significance 309016 rs533214351 12:49425417-49425417 12:49031634-49031634 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12780A>G (p.Gln4260=) SNV Uncertain significance 309019 rs555842651 12:49425708-49425708 12:49031925-49031925 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11945G>C (p.Arg3982Pro) SNV Uncertain significance 309024 rs760983900 12:49426543-49426543 12:49032760-49032760 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11850_11852GCA[1] (p.Gln3954del) short repeat Uncertain significance 309025 rs886049475 12:49426633-49426635 12:49032850-49032852 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7970C>T (p.Ala2657Val) SNV Uncertain significance 309043 rs200913080 12:49433583-49433583 12:49039800-49039800 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7202G>A (p.Arg2401His) SNV Uncertain significance 309046 rs375115132 12:49434351-49434351 12:49040568-49040568 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7036G>A (p.Gly2346Ser) SNV Uncertain significance 309049 rs761219768 12:49434517-49434517 12:49040734-49040734 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.1446A>G (p.Ala482=) SNV Uncertain significance 309085 rs781413067 12:49446020-49446020 12:49052237-49052237 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.1076G>A (p.Arg359His) SNV Uncertain significance 309088 rs779668384 12:49446734-49446734 12:49052951-49052951 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.695G>C (p.Cys232Ser) SNV Uncertain significance 309089 rs886049486 12:49447403-49447403 12:49053620-49053620 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.295C>T (p.Pro99Ser) SNV Uncertain significance 309091 rs886049487 12:49448416-49448416 12:49054633-49054633 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*455A>C SNV Uncertain significance 308989 rs886049466 12:49415108-49415108 12:49021325-49021325 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*2549G>A SNV Uncertain significance 308968 rs886049458 12:49413014-49413014 12:49019231-49019231 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*2387C>T SNV Uncertain significance 308969 rs553627354 12:49413176-49413176 12:49019393-49019393 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*1694A>T SNV Uncertain significance 308977 rs886049460 12:49413869-49413869 12:49020086-49020086 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8156G>C (p.Ser2719Thr) SNV Uncertain significance 309041 rs199913341 12:49433291-49433291 12:49039508-49039508 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6416C>T (p.Ala2139Val) SNV Uncertain significance 309054 rs754730634 12:49435137-49435137 12:49041354-49041354 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*298C>T SNV Uncertain significance 308991 rs886049467 12:49415265-49415265 12:49021482-49021482 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7249T>G (p.Ser2417Ala) SNV Uncertain significance 369942 rs1057516188 12:49434304-49434304 12:49040521-49040521 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2798-8C>G SNV Uncertain significance 309078 rs867926537 12:49444581-49444581 12:49050798-49050798 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2220G>T (p.Gly740=) SNV Uncertain significance 309083 rs368986210 12:49445246-49445246 12:49051463-49051463 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.682C>G (p.Arg228Gly) SNV Likely benign 309090 rs201994402 12:49447416-49447416 12:49053633-49053633 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15786C>T (p.Ala5262=) SNV Likely benign 308999 rs531361015 12:49418728-49418728 12:49024945-49024945 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*463dup duplication Likely benign 308987 rs201717312 12:49415099-49415100 12:49021316-49021317 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*2642C>T SNV Likely benign 308967 rs139469030 12:49412921-49412921 12:49019138-49019138 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.13259G>A (p.Arg4420Gln) SNV Likely benign 309015 rs375999143 12:49425229-49425229 12:49031446-49031446 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3181G>T (p.Val1061Leu) SNV Likely benign 309073 rs200450910 12:49444190-49444190 12:49050407-49050407 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5492A>T (p.Asp1831Val) SNV Likely benign 309058 rs367762013 12:49437187-49437187 12:49043404-49043404 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*362C>T SNV Likely benign 308990 rs532505729 12:49415201-49415201 12:49021418-49021418 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*2804A>G SNV Likely benign 308965 rs552111682 12:49412759-49412759 12:49018976-49018976 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*2146C>A SNV Likely benign 308972 rs559450337 12:49413417-49413417 12:49019634-49019634 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*2044C>A SNV Likely benign 308974 rs190063096 12:49413519-49413519 12:49019736-49019736 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4389C>T (p.Thr1463=) SNV Likely benign 286281 rs372775501 12:49440421-49440421 12:49046638-49046638 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8813C>T (p.Pro2938Leu) SNV Likely benign 309039 rs142395705 12:49432326-49432326 12:49038543-49038543 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7607T>C (p.Phe2536Ser) SNV Likely benign 309045 rs199628497 12:49433946-49433946 12:49040163-49040163 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6437C>T (p.Pro2146Leu) SNV Likely benign 309053 rs563981206 12:49435116-49435116 12:49041333-49041333 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4694C>T (p.Ala1565Val) SNV Likely benign 309062 rs200119692 12:49439750-49439750 12:49045967-49045967 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15085A>C (p.Met5029Leu) SNV Likely benign 309003 rs540734063 12:49420664-49420664 12:49026881-49026881 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*1041G>T SNV Likely benign 308984 rs563489548 12:49414522-49414522 12:49020739-49020739 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*815C>T SNV Likely benign 308986 rs192035980 12:49414748-49414748 12:49020965-49020965 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*456C>G SNV Likely benign 308988 rs564266476 12:49415107-49415107 12:49021324-49021324 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3180G>T (p.Lys1060Asn) SNV Likely benign 309074 rs201568916 12:49444191-49444191 12:49050408-49050408 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.1259-13G>A SNV Likely benign 309086 rs373466438 12:49446220-49446220 12:49052437-49052437 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*2645T>C SNV Likely benign 308966 rs185652670 12:49412918-49412918 12:49019135-49019135 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14075+11G>C SNV Likely benign 309010 rs770360649 12:49423173-49423173 12:49029390-49029390 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11313C>A (p.Pro3771=) SNV Likely benign 309029 rs200639395 12:49427175-49427175 12:49033392-49033392 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.1258+3G>A SNV Likely benign 235738 rs368687683 12:49446344-49446344 12:49052561-49052561 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15120C>T (p.Asp5040=) SNV Likely benign 309002 rs143955226 12:49420629-49420629 12:49026846-49026846 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14883C>T (p.Pro4961=) SNV Likely benign 309004 rs770276955 12:49420866-49420866 12:49027083-49027083 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*2077G>A SNV Likely benign 308973 rs7975791 12:49413486-49413486 12:49019703-49019703 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*2354G>T SNV Likely benign 308970 rs537330938 12:49413209-49413209 12:49019426-49019426 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6765G>A (p.Leu2255=) SNV Likely benign 266122 rs886037915 12:49434788-49434788 12:49041005-49041005 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2206C>T (p.Pro736Ser) SNV Likely benign 283183 rs552543556 12:49445260-49445260 12:49051477-49051477 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7478G>A (p.Gly2493Glu) SNV Likely benign 281267 rs833819 12:49434075-49434075 12:49040292-49040292 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.9034C>T (p.Leu3012=) SNV Likely benign 259063 rs752355105 12:49432105-49432105 12:49038322-49038322 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2506C>A (p.Gln836Lys) SNV Likely benign 158754 rs200192746 12:49444960-49444960 12:49051177-49051177 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12006A>G (p.Pro4002=) SNV Likely benign 703316 12:49426482-49426482 12:49032699-49032699 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15019C>T (p.Arg5007Trp) SNV Likely benign 706633 12:49420730-49420730 12:49026947-49026947 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.6524A>G (p.Asp2175Gly) SNV Likely benign 833814 12:49435029-49435029 12:49041246-49041246 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.11723_11728AGCAAC[3] (p.Gln3910_Gln3911dup) short repeat Likely benign 833766 12:49426753-49426754 12:49032970-49032971 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2726C>T (p.Ser909Phe) SNV Likely benign 656882 12:49444740-49444740 12:49050957-49050957 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15090T>G (p.Arg5030=) SNV Likely benign 94178 rs373414243 12:49420659-49420659 12:49026876-49026876 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7954A>C (p.Met2652Leu) SNV Likely benign 94253 rs147706410 12:49433599-49433599 12:49039816-49039816 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2546C>T (p.Ser849Leu) SNV Likely benign 134667 rs370492566 12:49444920-49444920 12:49051137-49051137 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6643T>A (p.Ser2215Thr) SNV Likely benign 134700 rs200080744 12:49434910-49434910 12:49041127-49041127 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12935C>T (p.Ser4312Phe) SNV Likely benign 631483 rs1565772915 12:49425553-49425553 12:49031770-49031770 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.16249C>T (p.Leu5417=) SNV Likely benign 767200 12:49416462-49416462 12:49022679-49022679 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.13506A>G (p.Leu4502=) SNV Likely benign 778728 12:49424982-49424982 12:49031199-49031199 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6998C>T (p.Pro2333Leu) SNV Likely benign 767597 12:49434555-49434555 12:49040772-49040772 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4542C>T (p.Tyr1514=) SNV Likely benign 774087 12:49440084-49440084 12:49046301-49046301 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4525A>G (p.Ile1509Val) SNV Likely benign 774105 12:49440101-49440101 12:49046318-49046318 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.879G>A (p.Thr293=) SNV Likely benign 772435 12:49447065-49447065 12:49053282-49053282 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.8046+4del deletion Likely benign 802853 12:49433503-49433503 12:49039720-49039720 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.9165T>C (p.Pro3055=) SNV Likely benign 735972 12:49431974-49431974 12:49038191-49038191 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15528C>T (p.His5176=) SNV Likely benign 759604 12:49420221-49420221 12:49026438-49026438 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5868-10T>C SNV Likely benign 753798 12:49436123-49436123 12:49042340-49042340 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.14140A>T (p.Ile4714Phe) SNV Likely benign 802850 12:49422955-49422955 12:49029172-49029172 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.9459G>C (p.Gly3153=) SNV Likely benign 719102 12:49431680-49431680 12:49037897-49037897 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.16449C>T (p.Ala5483=) SNV Likely benign 723772 12:49415898-49415898 12:49022115-49022115 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12944A>G (p.Gln4315Arg) SNV Likely benign 733373 12:49425544-49425544 12:49031761-49031761 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3765C>T (p.Gly1255=) SNV Likely benign 733727 12:49443606-49443606 12:49049823-49049823 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8162G>A (p.Gly2721Asp) SNV Likely benign 583125 rs758773506 12:49433285-49433285 12:49039502-49039502 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2771C>T (p.Ser924Phe) SNV Likely benign 547410 rs768627183 12:49444695-49444695 12:49050912-49050912 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2209C>T (p.Arg737Trp) SNV Likely benign 547406 rs539274614 12:49445257-49445257 12:49051474-49051474 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5189-13G>A SNV Likely benign 547429 rs375365635 12:49437794-49437794 12:49044011-49044011 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.9439G>A (p.Ala3147Thr) SNV Likely benign 547462 rs1555190514 12:49431700-49431700 12:49037917-49037917 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11044C>G (p.Gln3682Glu) SNV Likely benign 547471 rs1223171002 12:49427444-49427444 12:49033661-49033661 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7589C>T (p.Thr2530Ile) SNV Likely benign 547449 rs773982820 12:49433964-49433964 12:49040181-49040181 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7451T>C (p.Leu2484Pro) SNV Likely benign 547446 rs1555192083 12:49434102-49434102 12:49040319-49040319 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5752C>T (p.Arg1918Cys) SNV Likely benign 547434 rs747722455 12:49436554-49436554 12:49042771-49042771 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7136C>T (p.Ala2379Val) SNV Likely benign 547441 rs200842315 12:49434417-49434417 12:49040634-49040634 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12697C>T (p.Gln4233Ter) SNV Likely benign 547484 rs1555187930 12:49425791-49425791 12:49032008-49032008 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.10599T>C (p.Gly3533=) SNV Likely benign 531893 rs751946037 12:49427991-49427991 12:49034208-49034208 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8904G>A (p.Pro2968=) SNV Likely benign 531892 rs767700267 12:49432235-49432235 12:49038452-49038452 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12705G>A (p.Gln4235=) SNV Likely benign 531894 rs905791071 12:49425783-49425783 12:49032000-49032000 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.13095T>C (p.Leu4365=) SNV Likely benign 514748 rs767751775 12:49425393-49425393 12:49031610-49031610 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11916G>A (p.Gln3972=) SNV Likely benign 435662 rs371224852 12:49426572-49426572 12:49032789-49032789 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.9343C>T (p.Leu3115Phe) SNV Benign/Likely benign 134706 rs587778471 12:49431796-49431796 12:49038013-49038013 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11610G>A (p.Met3870Ile) SNV Benign/Likely benign 134717 rs73302195 12:49426878-49426878 12:49033095-49033095 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6836G>A (p.Gly2279Glu) SNV Benign/Likely benign 134695 rs200578414 12:49434717-49434717 12:49040934-49040934 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2838G>A (p.Ala946=) SNV Benign/Likely benign 94207 rs376753331 12:49444533-49444533 12:49050750-49050750 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7670C>T (p.Pro2557Leu) SNV Benign/Likely benign 94250 rs189888707 12:49433883-49433883 12:49040100-49040100 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8091C>T (p.Arg2697=) SNV Benign/Likely benign 94257 rs116686402 12:49433356-49433356 12:49039573-49039573 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3572C>T (p.Pro1191Leu) SNV Benign/Likely benign 134673 rs112236653 12:49443799-49443799 12:49050016-49050016 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8046+11A>G SNV Benign/Likely benign 94254 rs145186737 12:49433496-49433496 12:49039713-49039713 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8047-15C>T SNV Benign/Likely benign 94255 rs202244933 12:49433415-49433415 12:49039632-49039632 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2250_2276del (p.746_754RPEEPHLSP[1]) deletion Benign/Likely benign 134661 rs587778449 12:49445190-49445216 12:49051407-49051433 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2074C>A (p.Pro692Thr) SNV Benign/Likely benign 134664 rs202076833 12:49445392-49445392 12:49051609-49051609 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6629C>T (p.Pro2210Leu) SNV Benign/Likely benign 94240 rs201190869 12:49434924-49434924 12:49041141-49041141 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11141G>A (p.Arg3714Lys) SNV Benign/Likely benign 94145 rs186696516 12:49427347-49427347 12:49033564-49033564 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15978T>G (p.Leu5326=) SNV Benign/Likely benign 94189 rs55776396 12:49418435-49418435 12:49024652-49024652 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12913G>A (p.Val4305Ile) SNV Benign/Likely benign 94162 rs199895011 12:49425575-49425575 12:49031792-49031792 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.13045C>G (p.Pro4349Ala) SNV Benign/Likely benign 94165 rs181733689 12:49425443-49425443 12:49031660-49031660 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.13644C>T (p.Ser4548=) SNV Benign/Likely benign 94167 rs201119371 12:49424703-49424703 12:49030920-49030920 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5868-8C>T SNV Benign/Likely benign 94231 rs75783546 12:49436121-49436121 12:49042338-49042338 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5976G>A (p.Glu1992=) SNV Benign/Likely benign 94233 rs77794669 12:49436005-49436005 12:49042222-49042222 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5016T>C (p.Pro1672=) SNV Benign/Likely benign 94222 rs114731584 12:49438253-49438253 12:49044470-49044470 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5217C>T (p.Gly1739=) SNV Benign/Likely benign 94226 rs111924728 12:49437753-49437753 12:49043970-49043970 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4020+13C>G SNV Benign/Likely benign 94213 rs184377216 12:49442875-49442875 12:49049092-49049092 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.248G>A (p.Arg83Gln) SNV Benign/Likely benign 94203 rs55865069 12:49448463-49448463 12:49054680-49054680 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2156C>T (p.Pro719Leu) SNV Benign/Likely benign 94197 rs185660524 12:49445310-49445310 12:49051527-49051527 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.10045A>G (p.Met3349Val) SNV Benign/Likely benign 94134 rs80149580 12:49431094-49431094 12:49037311-49037311 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.10192A>G (p.Met3398Val) SNV Benign/Likely benign 94135 rs75937132 12:49430947-49430947 12:49037164-49037164 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.10256A>G (p.Asp3419Gly) SNV Benign/Likely benign 94136 rs146044282 12:49428694-49428694 12:49034911-49034911 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.10671A>G (p.Pro3557=) SNV Benign/Likely benign 94138 rs61942218 12:49427919-49427919 12:49034136-49034136 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.1120C>A (p.Pro374Thr) SNV Benign/Likely benign 94149 rs202013880 12:49446485-49446485 12:49052702-49052702 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.11202_11204GCA[8] (p.Gln3745dup) short repeat Benign/Likely benign 94150 rs398123707 12:49427265-49427266 12:49033482-49033483 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12028T>C (p.Ser4010Pro) SNV Benign/Likely benign 94154 rs80132640 12:49426460-49426460 12:49032677-49032677 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2052T>A (p.Pro684=) SNV Benign/Likely benign 158748 rs200116899 12:49445414-49445414 12:49051631-49051631 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.1938C>G (p.Pro646=) SNV Benign/Likely benign 158747 rs147212187 12:49445528-49445528 12:49051745-49051745 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5952C>A (p.Pro1984=) SNV Benign/Likely benign 158773 rs587783721 12:49436029-49436029 12:49042246-49042246 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.9726C>T (p.Ala3242=) SNV Benign/Likely benign 158793 rs183688784 12:49431413-49431413 12:49037630-49037630 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7188T>C (p.Cys2396=) SNV Benign/Likely benign 158783 rs111305262 12:49434365-49434365 12:49040582-49040582 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5220C>T (p.Ala1740=) SNV Benign/Likely benign 259060 rs200369026 12:49437750-49437750 12:49043967-49043967 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4089C>T (p.Thr1363=) SNV Benign/Likely benign 259058 rs369601017 12:49442484-49442484 12:49048701-49048701 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3819C>T (p.Cys1273=) SNV Benign/Likely benign 259057 rs373373098 12:49443552-49443552 12:49049769-49049769 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4401C>T (p.Gly1467=) SNV Benign/Likely benign 281493 rs192659833 12:49440409-49440409 12:49046626-49046626 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2088_2114del (p.Thr698_Pro706del) deletion Benign/Likely benign 285393 rs780334086 12:49445352-49445378 12:49051569-49051595 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.10179G>A (p.Pro3393=) SNV Benign/Likely benign 309034 rs368612015 12:49430960-49430960 12:49037177-49037177 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12084C>T (p.Thr4028=) SNV Benign/Likely benign 309023 rs553360102 12:49426404-49426404 12:49032621-49032621 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15540G>C (p.Val5180=) SNV Benign/Likely benign 259054 rs149393179 12:49420209-49420209 12:49026426-49026426 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.16599G>A (p.Arg5533=) SNV Benign/Likely benign 197965 rs199798179 12:49415578-49415578 12:49021795-49021795 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.9765T>C (p.His3255=) SNV Benign/Likely benign 211335 rs146213252 12:49431374-49431374 12:49037591-49037591 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2798-7del deletion Benign/Likely benign 193865 rs112620957 12:49444580-49444580 12:49050797-49050797 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6180C>T (p.Tyr2060=) SNV Benign/Likely benign 196174 rs186577948 12:49435703-49435703 12:49041920-49041920 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11670C>T (p.Ser3890=) SNV Benign/Likely benign 309027 rs376471354 12:49426818-49426818 12:49033035-49033035 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.11380C>T (p.Pro3794Ser) SNV Benign/Likely benign 309028 rs113997424 12:49427108-49427108 12:49033325-49033325 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.1965C>A (p.Pro655=) SNV Benign/Likely benign 309084 rs200939188 12:49445501-49445501 12:49051718-49051718 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3737C>T (p.Thr1246Met) SNV Benign/Likely benign 309068 rs112921115 12:49443634-49443634 12:49049851-49049851 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.1155C>T (p.Pro385=) SNV Benign/Likely benign 309087 rs545791832 12:49446450-49446450 12:49052667-49052667 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3408G>A (p.Glu1136=) SNV Benign/Likely benign 309070 rs372234918 12:49443963-49443963 12:49050180-49050180 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.5874C>T (p.Arg1958=) SNV Benign/Likely benign 309055 rs182887940 12:49436107-49436107 12:49042324-49042324 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6704G>A (p.Arg2235Lys) SNV Benign/Likely benign 309051 rs551403860 12:49434849-49434849 12:49041066-49041066 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*2208T>C SNV Benign 308971 rs77945935 12:49413355-49413355 12:49019572-49019572 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.*1540A>G SNV Benign 308979 rs12315734 12:49414023-49414023 12:49020240-49020240 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.1115T>A (p.Phe372Tyr) SNV Benign 134734 rs367758673 12:49446490-49446490 12:49052707-49052707 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.12510A>G (p.Pro4170=) SNV Benign 94158 rs3741622 12:49425978-49425978 12:49032195-49032195 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.10836G>A (p.Gln3612=) SNV Benign 94142 rs3782357 12:49427652-49427652 12:49033869-49033869 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.5549G>A (p.Gly1850Asp) SNV Benign 915427 12:49436954-49436954 12:49043171-49043171 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.1365A>G (p.Glu455=) SNV Benign 702594 12:49446101-49446101 12:49052318-49052318 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3373C>T (p.Leu1125=) SNV Benign 706678 12:49443998-49443998 12:49050215-49050215 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6621G>A (p.Ala2207=) SNV Benign 702339 12:49434932-49434932 12:49041149-49041149 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.7499C>T (p.Ala2500Val) SNV Benign 833974 12:49434054-49434054 12:49040271-49040271 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.2756C>T (p.Pro919Leu) SNV Benign 833941 12:49444710-49444710 12:49050927-49050927 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.250C>T (p.Arg84Cys) SNV Benign 833921 12:49448461-49448461 12:49054678-49054678 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.79A>G (p.Ser27Gly) SNV Benign 833819 12:49448780-49448780 12:49054997-49054997 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.15555C>T (p.Phe5185=) SNV Benign 706924 12:49420194-49420194 12:49026411-49026411 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2438C>T (p.Pro813Leu) SNV Benign 94202 rs75226229 12:49445028-49445028 12:49051245-49051245 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.2826C>T (p.Ile942=) SNV Benign 94206 rs2241726 12:49444545-49444545 12:49050762-49050762 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4021-15CT[2] short repeat Benign 94214 rs55776244 12:49442562-49442563 12:49048779-49048780 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4143G>A (p.Val1381=) SNV Benign 94217 rs398123745 12:49441841-49441841 12:49048058-49048058 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.13689C>T (p.Pro4563=) SNV Benign 94169 rs11168830 12:49424534-49424534 12:49030751-49030751 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.14238G>A (p.Arg4746=) SNV Benign 94172 rs75340924 12:49422857-49422857 12:49029074-49029074 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.1426G>A (p.Ala476Thr) SNV Benign 94174 rs1064210 12:49446040-49446040 12:49052257-49052257 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.16412+16del deletion Benign 94193 rs34546217 12:49416047-49416047 12:49022264-49022264 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7144C>T (p.Pro2382Ser) SNV Benign 94247 rs3741626 12:49434409-49434409 12:49040626-49040626 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.7479G>T (p.Gly2493=) SNV Benign 94248 rs10747559 12:49434074-49434074 12:49040291-49040291 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.8064G>A (p.Glu2688=) SNV Benign 94256 rs148457961 12:49433383-49433383 12:49039600-49039600 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.13102A>G (p.Thr4368Ala) SNV Benign 463005 rs189357192 12:49425386-49425386 12:49031603-49031603 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.6076A>G (p.Ile2026Val) SNV Benign 500446 rs190995850 12:49435905-49435905 12:49042122-49042122 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4724T>C (p.Met1575Thr) SNV Benign 547424 rs1555194803 12:49439720-49439720 12:49045937-49045937 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.3606C>T (p.Ser1202=) SNV Benign 727295 12:49443765-49443765 12:49049982-49049982 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.6235-32C>A SNV Benign 810978 12:49435350-49435350 12:49041567-49041567 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.4(KMT2D):c.4020+27A>G SNV Benign 811679 12:49442861-49442861 12:49049078-49049078 KBK002 Kabuki Syndrome 1 KMT2D NM_003482.3(KMT2D):c.4395C>T (p.Pro1465=) SNV Benign 698105 12:49440415-49440415 12:49046632-49046632 KBK002 Kabuki Syndrome 1 FGFR1 deletion Pathogenic 635961 8:38320755-38328265 KLL001 Kallmann Syndrome CHD7 NM_017780.4(CHD7):c.3222C>T (p.Ser1074=) SNV Conflicting interpretations of pathogenicity 363458 rs199675568 8:61736419-61736419 8:60823860-60823860 KLL001 Kallmann Syndrome CHD7 NM_017780.4(CHD7):c.*1663_*1664AG[1] short repeat Uncertain significance 363509 rs761460675 8:61780154-61780155 8:60867595-60867596 KLL001 Kallmann Syndrome CHD7 NM_017780.4(CHD7):c.-466delinsGGCGGCAGCG indel Uncertain significance 363425 rs886063026 8:61591350-61591350 8:60678791-60678791 KLL001 Kallmann Syndrome CHD7 NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCG indel Uncertain significance 363428 rs886063026 8:61591350-61591350 8:60678791-60678791 KLL001 Kallmann Syndrome CHD7 NM_017780.4(CHD7):c.-490_-488GGC[9] short repeat Uncertain significance 363419 rs886063023 8:61591323-61591324 8:60678764-60678765 KLL001 Kallmann Syndrome CHD7 NM_017780.4(CHD7):c.-466delinsGGCGGCGGCG indel Uncertain significance 363426 rs886063026 8:61591350-61591350 8:60678791-60678791 KLL001 Kallmann Syndrome CHD7 NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCAGCG indel Uncertain significance 363427 rs886063026 8:61591350-61591350 8:60678791-60678791 KLL001 Kallmann Syndrome CHD7 NM_017780.4(CHD7):c.6321C>T (p.His2107=) SNV Uncertain significance 363472 rs778800676 8:61765605-61765605 8:60853046-60853046 KLL001 Kallmann Syndrome CHD7 NM_017780.4(CHD7):c.8960_8962del (p.Gly2987del) deletion Uncertain significance 363488 rs771806027 8:61778454-61778456 8:60865895-60865897 KLL001 Kallmann Syndrome CHD7 NM_017780.4(CHD7):c.4811G>C (p.Ser1604Thr) SNV Uncertain significance 363462 rs367722051 8:61754572-61754572 8:60842013-60842013 KLL001 Kallmann Syndrome CHD7 NM_017780.4(CHD7):c.-466_-461del deletion Uncertain significance 363422 rs886063025 8:61591345-61591350 8:60678786-60678791 KLL001 Kallmann Syndrome CHD7 NM_017780.4(CHD7):c.-465_-463GCG[8] short repeat Uncertain significance 363432 rs71245513 8:61591350-61591351 8:60678791-60678792 KLL001 Kallmann Syndrome CHD7 NM_017780.4(CHD7):c.892A>G (p.Thr298Ala) SNV Uncertain significance 363444 rs886063033 8:61654883-61654883 8:60742324-60742324 KLL001 Kallmann Syndrome CHD7 NM_017780.4(CHD7):c.*338del deletion Uncertain significance 363494 rs886063045 8:61778830-61778830 8:60866271-60866271 KLL001 Kallmann Syndrome CHD7 NM_017780.4(CHD7):c.-490_-488GGC[10] short repeat Uncertain significance 363418 rs886063023 8:61591323-61591324 8:60678764-60678765 KLL001 Kallmann Syndrome CHD7 NM_017780.4(CHD7):c.-467_-466insGGCAGC insertion Uncertain significance 363424 rs1554568913 8:61591347-61591348 8:60678788-60678789 KLL001 Kallmann Syndrome CHD7 NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCG indel Uncertain significance 363429 rs886063026 8:61591350-61591350 8:60678791-60678791 KLL001 Kallmann Syndrome CHD7 NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCG indel Uncertain significance 363430 rs886063026 8:61591350-61591350 8:60678791-60678791 KLL001 Kallmann Syndrome CHD7 NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCGGCG indel Uncertain significance 363431 rs886063026 8:61591350-61591350 8:60678791-60678791 KLL001 Kallmann Syndrome SRA1 NM_001035235.3(SRA1):c.377G>A (p.Arg126His) SNV Uncertain significance 638187 rs1306465994 5:139931580-139931580 5:140551995-140551995 KLL001 Kallmann Syndrome CHD7 NM_017780.4(CHD7):c.*1644A>G SNV Uncertain significance 363508 rs886063053 8:61780136-61780136 8:60867577-60867577 KLL001 Kallmann Syndrome CHD7 NM_017780.3(CHD7):c.*2104T>A SNV Likely benign 369612 rs16926520 8:61780596-61780596 8:60868037-60868037 KLL001 Kallmann Syndrome FGFR1 NM_015850.4(FGFR1):c.*2104del deletion Likely benign 362858 rs201364530 8:38269042-38269042 8:38411524-38411524 KLL001 Kallmann Syndrome CHD7 NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) duplication Benign/Likely benign 95776 rs377139749 8:61693942-61693943 8:60781383-60781384 KLL001 Kallmann Syndrome CHD7 NM_017780.4(CHD7):c.*127del deletion Benign 363491 rs11322994 8:61778610-61778610 8:60866051-60866051 KLL001 Kallmann Syndrome TRNY m.5888delT deletion Pathogenic 9551 rs118203892 MT:5885-5885 MT:5885-5885 KRN002 Kearns-Sayre Syndrome TRNY m.5877C>T SNV Pathogenic 9552 rs118203893 MT:5877-5877 MT:5877-5877 KRN002 Kearns-Sayre Syndrome TRNL1 m.3249G>A SNV Pathogenic 9599 rs199474667 MT:3249-3249 MT:3249-3249 KRN002 Kearns-Sayre Syndrome ND6 NC_012920.1:m.14563C>T SNV Uncertain significance 370059 rs1057516069 MT:14563-14563 MT:14563-14563 KRN002 Kearns-Sayre Syndrome CYTB NC_012920.1:m.14854C>T SNV Uncertain significance 370061 rs1057516071 MT:14854-14854 MT:14854-14854 KRN002 Kearns-Sayre Syndrome TRNS1 NC_012920.1:m.7445A>G SNV Pathogenic 9563 rs199474818 MT:7445-7445 MT:7445-7445 KRT058 Keratoderma, Palmoplantar, with Deafness GJB2 NM_004004.6(GJB2):c.101T>C (p.Met34Thr) SNV Pathogenic 17000 rs35887622 13:20763620-20763620 13:20189481-20189481 KRT058 Keratoderma, Palmoplantar, with Deafness GJB2 NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) SNV Pathogenic 17001 rs80338944 13:20763490-20763490 13:20189351-20189351 KRT058 Keratoderma, Palmoplantar, with Deafness GJB2 NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) SNV Pathogenic 17002 rs104894396 13:20763650-20763650 13:20189511-20189511 KRT058 Keratoderma, Palmoplantar, with Deafness GJB2 NM_004004.6(GJB2):c.35del (p.Gly12fs) deletion Pathogenic 17004 rs80338939 13:20763686-20763686 13:20189547-20189547 KRT058 Keratoderma, Palmoplantar, with Deafness GJB2 NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) SNV Pathogenic 17005 rs104894398 13:20763582-20763582 13:20189443-20189443 KRT058 Keratoderma, Palmoplantar, with Deafness GJB2 NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) SNV Pathogenic 17009 rs80338948 13:20763294-20763294 13:20189155-20189155 KRT058 Keratoderma, Palmoplantar, with Deafness GJB2 NM_004004.6(GJB2):c.167del (p.Leu56fs) deletion Pathogenic 17010 rs80338942 13:20763554-20763554 13:20189415-20189415 KRT058 Keratoderma, Palmoplantar, with Deafness GJB2 NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) SNV Pathogenic 17027 rs28931593 13:20763497-20763497 13:20189358-20189358 KRT058 Keratoderma, Palmoplantar, with Deafness GJB2 NM_004004.6(GJB2):c.176G>C (p.Gly59Ala) SNV Pathogenic 17015 rs104894404 13:20763545-20763545 13:20189406-20189406 KRT058 Keratoderma, Palmoplantar, with Deafness GJB2 NM_004004.6(GJB2):c.109G>A (p.Val37Ile) SNV Pathogenic 17023 rs72474224 13:20763612-20763612 13:20189473-20189473 KRT058 Keratoderma, Palmoplantar, with Deafness GJB2 NM_004004.6(GJB2):c.-23+1G>A SNV Pathogenic 17029 rs80338940 13:20766921-20766921 13:20192782-20192782 KRT058 Keratoderma, Palmoplantar, with Deafness GJB2 NM_004004.6(GJB2):c.218A>G (p.His73Arg) SNV Pathogenic 17037 rs121912968 13:20763503-20763503 13:20189364-20189364 KRT058 Keratoderma, Palmoplantar, with Deafness GJB2 NM_004004.6(GJB2):c.1A>G (p.Met1Val) SNV Pathogenic 44729 rs111033293 13:20763720-20763720 13:20189581-20189581 KRT058 Keratoderma, Palmoplantar, with Deafness GJB2 NM_004004.6(GJB2):c.175G>C (p.Gly59Arg) SNV Pathogenic 496215 rs104894410 13:20763546-20763546 13:20189407-20189407 KRT058 Keratoderma, Palmoplantar, with Deafness GJB2 NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) SNV Pathogenic 44763 rs111033294 13:20763104-20763104 13:20188965-20188965 KRT058 Keratoderma, Palmoplantar, with Deafness GJB2 NM_004004.6(GJB2):c.66G>T (p.Lys22Asn) SNV Pathogenic 242831 rs879253741 13:20763655-20763655 13:20189516-20189516 KRT058 Keratoderma, Palmoplantar, with Deafness GJB2 NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) SNV Pathogenic 265481 rs774518779 13:20763215-20763215 13:20189076-20189076 KRT058 Keratoderma, Palmoplantar, with Deafness GJB2 NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) SNV Pathogenic/Likely pathogenic 163514 rs727503066 13:20763342-20763342 13:20189203-20189203 KRT058 Keratoderma, Palmoplantar, with Deafness GJB2 NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) SNV Pathogenic/Likely pathogenic 188830 rs104894413 13:20763590-20763590 13:20189451-20189451 KRT058 Keratoderma, Palmoplantar, with Deafness GJB2 NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) SNV Pathogenic/Likely pathogenic 550195 rs371024165 13:20763627-20763627 13:20189488-20189488 KRT058 Keratoderma, Palmoplantar, with Deafness GJB2 NM_004004.6(GJB2):c.283G>A (p.Val95Met) SNV Pathogenic/Likely pathogenic 44735 rs111033299 13:20763438-20763438 13:20189299-20189299 KRT058 Keratoderma, Palmoplantar, with Deafness GJB2 NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) SNV Likely pathogenic 44740 rs104894408 13:20763687-20763687 13:20189548-20189548 KRT058 Keratoderma, Palmoplantar, with Deafness GJB2 NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) SNV Conflicting interpretations of pathogenicity 44749 rs76434661 13:20763305-20763305 13:20189166-20189166 KRT058 Keratoderma, Palmoplantar, with Deafness GJB2 NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) SNV Conflicting interpretations of pathogenicity 17016 rs80338945 13:20763452-20763452 13:20189313-20189313 KRT058 Keratoderma, Palmoplantar, with Deafness GJB2 NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) SNV Conflicting interpretations of pathogenicity 17007 rs80338950 13:20763170-20763170 13:20189031-20189031 KRT058 Keratoderma, Palmoplantar, with Deafness GJB2 NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) SNV Uncertain significance 44764 rs375599392 13:20763058-20763058 13:20188919-20188919 KRT058 Keratoderma, Palmoplantar, with Deafness GJB2 NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) SNV Uncertain significance 44765 rs111033194 13:20763051-20763051 13:20188912-20188912 KRT058 Keratoderma, Palmoplantar, with Deafness GJB2 NM_004004.6(GJB2):c.188T>C (p.Val63Ala) SNV Uncertain significance 177751 rs727504309 13:20763533-20763533 13:20189394-20189394 KRT058 Keratoderma, Palmoplantar, with Deafness LCT NM_002299.4(LCT):c.4170T>A (p.Tyr1390Ter) SNV Pathogenic 6586 rs121908936 2:136564701-136564701 2:135807131-135807131 LCT013 Lactase Deficiency, Congenital LCT LCT, 4-BP DEL, NT4998 deletion Pathogenic 6587 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.804G>C (p.Gln268His) SNV Pathogenic 6588 rs121908937 2:136587163-136587163 2:135829593-135829593 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.1692_1696del (p.Val565fs) deletion Likely pathogenic 56387 rs386833832 2:136574922-136574926 2:135817352-135817356 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.4087G>A (p.Gly1363Ser) SNV Likely pathogenic 56388 rs386833833 2:136564784-136564784 2:135807214-135807214 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.4419C>G (p.Tyr1473Ter) SNV Likely pathogenic 56389 rs386833834 2:136562382-136562382 2:135804812-135804812 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.4834G>T (p.Glu1612Ter) SNV Likely pathogenic 56390 rs386833835 2:136558209-136558209 2:135800639-135800639 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.4998_5001del (p.Ser1666fs) deletion Likely pathogenic 56391 rs386833836 2:136552321-136552324 2:135794751-135794754 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.5387del (p.Asp1796fs) deletion Likely pathogenic 56392 rs386833837 2:136547317-136547317 2:135789747-135789747 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.649_650CT[2] (p.Ser218fs) short repeat Likely pathogenic 56393 rs386833838 2:136590747-136590748 2:135833177-135833178 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.4347T>C (p.Phe1449=) SNV Conflicting interpretations of pathogenicity 331175 rs17699796 2:136562454-136562454 2:135804884-135804884 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.4173+6_4173+8del short repeat Conflicting interpretations of pathogenicity 331178 rs375300532 2:136564690-136564692 2:135807120-135807122 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.2763G>A (p.Ala921=) SNV Conflicting interpretations of pathogenicity 331193 rs116951780 2:136567154-136567154 2:135809584-135809584 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.*325G>C SNV Conflicting interpretations of pathogenicity 331156 rs62170085 2:136545569-136545569 2:135787999-135787999 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.4576C>T (p.Leu1526=) SNV Conflicting interpretations of pathogenicity 331173 rs140074771 2:136561587-136561587 2:135804017-135804017 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.1113G>A (p.Arg371=) SNV Conflicting interpretations of pathogenicity 729578 2:136575505-136575505 2:135817935-135817935 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.4026G>A (p.Thr1342=) SNV Conflicting interpretations of pathogenicity 331180 rs150640616 2:136564845-136564845 2:135807275-135807275 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.2760C>T (p.Gly920=) SNV Conflicting interpretations of pathogenicity 331194 rs200579267 2:136567157-136567157 2:135809587-135809587 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.2457C>T (p.His819=) SNV Uncertain significance 331196 rs149425549 2:136567460-136567460 2:135809890-135809890 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.1396G>T (p.Gly466Trp) SNV Uncertain significance 331203 rs377102890 2:136575222-136575222 2:135817652-135817652 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.4122C>T (p.Tyr1374=) SNV Uncertain significance 331179 rs557321611 2:136564749-136564749 2:135807179-135807179 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.319G>A (p.Glu107Lys) SNV Uncertain significance 331212 rs761296720 2:136594421-136594421 2:135836851-135836851 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.54G>C (p.Trp18Cys) SNV Uncertain significance 331214 rs886054870 2:136594686-136594686 2:135837116-135837116 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.3759G>A (p.Thr1253=) SNV Uncertain significance 331183 rs764860323 2:136566158-136566158 2:135808588-135808588 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.3599C>T (p.Thr1200Met) SNV Uncertain significance 331184 rs148317168 2:136566318-136566318 2:135808748-135808748 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.3341A>G (p.Gln1114Arg) SNV Uncertain significance 331188 rs148838160 2:136566576-136566576 2:135809006-135809006 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.1780C>G (p.Gln594Glu) SNV Uncertain significance 331199 rs886054867 2:136570454-136570454 2:135812884-135812884 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.2177G>A (p.Arg726His) SNV Uncertain significance 331197 rs886054866 2:136570057-136570057 2:135812487-135812487 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.1902C>T (p.Pro634=) SNV Uncertain significance 331198 rs202014246 2:136570332-136570332 2:135812762-135812762 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.4646A>G (p.Tyr1549Cys) SNV Uncertain significance 331171 rs147495948 2:136561517-136561517 2:135803947-135803947 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.*251G>A SNV Uncertain significance 331157 rs886054860 2:136545643-136545643 2:135788073-135788073 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.*10A>C SNV Uncertain significance 331160 rs200994158 2:136545884-136545884 2:135788314-135788314 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.5771T>C (p.Val1924Ala) SNV Uncertain significance 331161 rs886054861 2:136545907-136545907 2:135788337-135788337 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.5656G>A (p.Val1886Ile) SNV Uncertain significance 331163 rs376732886 2:136546022-136546022 2:135788452-135788452 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.5493C>T (p.Tyr1831=) SNV Uncertain significance 331166 rs369410973 2:136547211-136547211 2:135789641-135789641 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.4239A>G (p.Pro1413=) SNV Uncertain significance 331177 rs752925060 2:136562562-136562562 2:135804992-135804992 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.3986C>T (p.Thr1329Met) SNV Uncertain significance 331181 rs555708380 2:136564885-136564885 2:135807315-135807315 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.3595G>A (p.Ala1199Thr) SNV Uncertain significance 331185 rs886054863 2:136566322-136566322 2:135808752-135808752 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.3532C>T (p.Leu1178=) SNV Uncertain significance 331186 rs886054864 2:136566385-136566385 2:135808815-135808815 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.3390G>A (p.Glu1130=) SNV Uncertain significance 331187 rs886054865 2:136566527-136566527 2:135808957-135808957 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.*275A>G SNV Uncertain significance 894022 2:136545619-136545619 2:135788049-135788049 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.*239C>T SNV Uncertain significance 894023 2:136545655-136545655 2:135788085-135788085 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.4760G>A (p.Arg1587His) SNV Uncertain significance 631827 rs146614143 2:136558283-136558283 2:135800713-135800713 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.1539G>A (p.Glu513=) SNV Uncertain significance 893076 2:136575079-136575079 2:135817509-135817509 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.1116G>A (p.Ala372=) SNV Uncertain significance 893077 2:136575502-136575502 2:135817932-135817932 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.1004C>G (p.Thr335Ser) SNV Uncertain significance 893283 2:136575614-136575614 2:135818044-135818044 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.840C>T (p.Asn280=) SNV Uncertain significance 893284 2:136581538-136581538 2:135823968-135823968 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.725C>T (p.Thr242Met) SNV Uncertain significance 893285 2:136587242-136587242 2:135829672-135829672 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.677T>C (p.Ile226Thr) SNV Uncertain significance 893286 2:136590724-136590724 2:135833154-135833154 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.280G>A (p.Ala94Thr) SNV Uncertain significance 894134 2:136594460-136594460 2:135836890-135836890 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.122A>C (p.His41Pro) SNV Uncertain significance 894534 2:136594618-136594618 2:135837048-135837048 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.89C>T (p.Ser30Phe) SNV Uncertain significance 894535 2:136594651-136594651 2:135837081-135837081 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.30T>C (p.Ile10=) SNV Uncertain significance 894536 2:136594710-136594710 2:135837140-135837140 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.21A>G (p.Val7=) SNV Uncertain significance 894537 2:136594719-136594719 2:135837149-135837149 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.5563+7T>C SNV Uncertain significance 894423 2:136547134-136547134 2:135789564-135789564 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.5335+5G>A SNV Uncertain significance 892985 2:136548223-136548223 2:135790653-135790653 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.*193C>T SNV Uncertain significance 894025 2:136545701-136545701 2:135788131-135788131 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.5655C>T (p.Tyr1885=) SNV Uncertain significance 894422 2:136546023-136546023 2:135788453-135788453 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.5391T>C (p.Asn1797=) SNV Uncertain significance 892984 2:136547313-136547313 2:135789743-135789743 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.4776C>T (p.Gly1592=) SNV Uncertain significance 892987 2:136558267-136558267 2:135800697-135800697 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.4761C>T (p.Arg1587=) SNV Uncertain significance 893213 2:136558282-136558282 2:135800712-135800712 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.4714A>T (p.Ile1572Leu) SNV Uncertain significance 893214 2:136558329-136558329 2:135800759-135800759 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.4447G>T (p.Ala1483Ser) SNV Uncertain significance 894060 2:136562354-136562354 2:135804784-135804784 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.4404G>A (p.Ala1468=) SNV Uncertain significance 894061 2:136562397-136562397 2:135804827-135804827 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.4362T>G (p.Ser1454=) SNV Uncertain significance 894062 2:136562439-136562439 2:135804869-135804869 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.4224G>A (p.Thr1408=) SNV Uncertain significance 894063 2:136562577-136562577 2:135805007-135805007 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.3804C>A (p.Pro1268=) SNV Uncertain significance 894462 2:136566113-136566113 2:135808543-135808543 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.3666C>A (p.Asn1222Lys) SNV Uncertain significance 894463 2:136566251-136566251 2:135808681-135808681 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.3655C>G (p.Pro1219Ala) SNV Uncertain significance 893033 2:136566262-136566262 2:135808692-135808692 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.3483C>T (p.Asn1161=) SNV Uncertain significance 893034 2:136566434-136566434 2:135808864-135808864 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.3450C>T (p.Ser1150=) SNV Uncertain significance 893035 2:136566467-136566467 2:135808897-135808897 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.2983C>T (p.His995Tyr) SNV Uncertain significance 893249 2:136566934-136566934 2:135809364-135809364 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.2969G>T (p.Ser990Ile) SNV Uncertain significance 893250 2:136566948-136566948 2:135809378-135809378 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.2898C>A (p.Leu966=) SNV Uncertain significance 893251 2:136567019-136567019 2:135809449-135809449 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.2819G>A (p.Gly940Glu) SNV Uncertain significance 894102 2:136567098-136567098 2:135809528-135809528 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.2718C>T (p.Asp906=) SNV Uncertain significance 894103 2:136567199-136567199 2:135809629-135809629 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.2618C>T (p.Pro873Leu) SNV Uncertain significance 894104 2:136567299-136567299 2:135809729-135809729 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.2349C>T (p.Leu783=) SNV Uncertain significance 894105 2:136569885-136569885 2:135812315-135812315 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.2310A>C (p.Leu770Phe) SNV Uncertain significance 894496 2:136569924-136569924 2:135812354-135812354 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.2293C>A (p.Leu765Ile) SNV Uncertain significance 894497 2:136569941-136569941 2:135812371-135812371 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.1931C>T (p.Thr644Ile) SNV Uncertain significance 894498 2:136570303-136570303 2:135812733-135812733 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.4434T>C (p.Asp1478=) SNV Uncertain significance 331174 rs778761405 2:136562367-136562367 2:135804797-135804797 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.3848C>T (p.Thr1283Met) SNV Uncertain significance 331182 rs147755711 2:136566069-136566069 2:135808499-135808499 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.1045G>A (p.Glu349Lys) SNV Uncertain significance 331205 rs886054868 2:136575573-136575573 2:135818003-135818003 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.621C>T (p.His207=) SNV Uncertain significance 331209 rs369174474 2:136594119-136594119 2:135836549-135836549 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.*230T>C SNV Uncertain significance 331158 rs749324196 2:136545664-136545664 2:135788094-135788094 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.643G>A (p.Gly215Arg) SNV Uncertain significance 331208 rs886054869 2:136590758-136590758 2:135833188-135833188 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.1461G>A (p.Ala487=) SNV Uncertain significance 331201 rs146206234 2:136575157-136575157 2:135817587-135817587 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.4695C>T (p.Tyr1565=) SNV Uncertain significance 331170 rs886054862 2:136558348-136558348 2:135800778-135800778 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.3286G>A (p.Ala1096Thr) SNV Uncertain significance 331189 rs146467199 2:136566631-136566631 2:135809061-135809061 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.3285C>T (p.His1095=) SNV Uncertain significance 331190 rs372534937 2:136566632-136566632 2:135809062-135809062 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.3006G>A (p.Arg1002=) SNV Uncertain significance 331191 rs114815229 2:136566911-136566911 2:135809341-135809341 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.2883C>T (p.Ala961=) SNV Uncertain significance 331192 rs140994860 2:136567034-136567034 2:135809464-135809464 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.4664-10A>G SNV Uncertain significance 893215 2:136558389-136558389 2:135800819-135800819 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.4173+5G>A SNV Uncertain significance 894461 2:136564693-136564693 2:135807123-135807123 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.5529C>T (p.Pro1843=) SNV Uncertain significance 331165 rs761696901 2:136547175-136547175 2:135789605-135789605 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.4922T>C (p.Val1641Ala) SNV Uncertain significance 331167 rs557029000 2:136555653-136555653 2:135798083-135798083 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.*442_*443GT[1] short repeat Likely benign 331154 rs140433552 2:136545449-136545450 2:135787879-135787880 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.1617C>T (p.Thr539=) SNV Likely benign 894499 2:136575001-136575001 2:135817431-135817431 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.4866+12C>T SNV Likely benign 892986 2:136558165-136558165 2:135800595-135800595 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.*235C>T SNV Likely benign 894024 2:136545659-136545659 2:135788089-135788089 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.1650C>G (p.Gly550=) SNV Likely benign 331200 rs35093754 2:136574968-136574968 2:135817398-135817398 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.*429A>C SNV Likely benign 331155 rs77631953 2:136545465-136545465 2:135787895-135787895 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.729C>G (p.Val243=) SNV Likely benign 331206 rs3816088 2:136587238-136587238 2:135829668-135829668 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.318C>T (p.Asp106=) SNV Benign/Likely benign 331213 rs34307240 2:136594422-136594422 2:135836852-135836852 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.454G>A (p.Ala152Thr) SNV Benign/Likely benign 331211 rs114525655 2:136594286-136594286 2:135836716-135836716 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.3597G>A (p.Ala1199=) SNV Benign/Likely benign 720552 2:136566320-136566320 2:135808750-135808750 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.4777G>A (p.Val1593Met) SNV Benign/Likely benign 331169 rs35891837 2:136558266-136558266 2:135800696-135800696 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.5768C>A (p.Pro1923Gln) SNV Benign/Likely benign 331162 rs114828879 2:136545910-136545910 2:135788340-135788340 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.2714A>G (p.Asp905Gly) SNV Benign/Likely benign 331195 rs115690016 2:136567203-136567203 2:135809633-135809633 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.5568T>C (p.Ala1856=) SNV Benign 331164 rs2278544 2:136546110-136546110 2:135788540-135788540 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.4916A>G (p.Asn1639Ser) SNV Benign 331168 rs2322659 2:136555659-136555659 2:135798089-135798089 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.582C>T (p.Thr194=) SNV Benign 331210 rs2236783 2:136594158-136594158 2:135836588-135836588 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.4606C>T (p.Leu1536=) SNV Benign 331172 rs2304371 2:136561557-136561557 2:135803987-135803987 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.655G>A (p.Val219Ile) SNV Benign 331207 rs3754689 2:136590746-136590746 2:135833176-135833176 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.*50G>C SNV Benign 331159 rs1042712 2:136545844-136545844 2:135788274-135788274 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.1318G>A (p.Val440Ile) SNV Benign 708529 2:136575300-136575300 2:135817730-135817730 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.301A>G (p.Ser101Gly) SNV Benign 708530 2:136594439-136594439 2:135836869-135836869 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.1419C>A (p.Gly473=) SNV Benign 331202 rs6719488 2:136575199-136575199 2:135817629-135817629 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.4329C>T (p.Gly1443=) SNV Benign 331176 rs3739022 2:136562472-136562472 2:135804902-135804902 LCT013 Lactase Deficiency, Congenital LCT NM_002299.4(LCT):c.1084A>G (p.Ile362Val) SNV Benign 331204 rs4954449 2:136575534-136575534 2:135817964-135817964 LCT013 Lactase Deficiency, Congenital CHAT NM_020549.4(CHAT):c.2081C>G (p.Ser694Cys) SNV Pathogenic 523529 rs201439531 10:50872926-50872926 10:49664880-49664880 LCT001 Lactic Acidosis KARS1 NM_001130089.1(KARS1):c.1438del (p.Leu480fs) deletion Pathogenic 560389 rs1567498374 16:75664391-75664391 16:75630493-75630493 LCT001 Lactic Acidosis UQCRFS1 NM_006003.3(UQCRFS1):c.215-1G>C SNV Pathogenic 619297 rs1568344751 19:29699066-29699066 19:29208159-29208159 LCT001 Lactic Acidosis UQCRFS1 NM_006003.3(UQCRFS1):c.610C>T (p.Arg204Ter) SNV Pathogenic 619499 rs1242465339 19:29698670-29698670 19:29207763-29207763 LCT001 Lactic Acidosis UQCRFS1 NM_006003.3(UQCRFS1):c.41T>A (p.Val14Asp) SNV Pathogenic 619501 rs1568346416 19:29703985-29703985 19:29213078-29213078 LCT001 Lactic Acidosis NGLY1 NM_018297.4(NGLY1):c.758G>T (p.Cys253Phe) SNV Likely pathogenic 812762 3:25781191-25781191 3:25739700-25739700 LCT001 Lactic Acidosis CHAT NM_020549.4(CHAT):c.1061C>T (p.Thr354Met) SNV Conflicting interpretations of pathogenicity 523528 rs769234940 10:50835781-50835781 10:49627735-49627735 LCT001 Lactic Acidosis ND6 NC_012920.1:m.14484T>C SNV Pathogenic 9688 rs199476104 MT:14484-14484 MT:14484-14484 LBR030 Leber Optic Atrophy ND6 m.14459G>A SNV Pathogenic 9689 rs199476105 MT:14459-14459 MT:14459-14459 LBR030 Leber Optic Atrophy ND6 m.14596A>T SNV Pathogenic 9690 rs387906424 MT:14596-14596 MT:14596-14596 LBR030 Leber Optic Atrophy ND6 m.14495A>G SNV Pathogenic 9691 rs199476106 MT:14495-14495 MT:14495-14495 LBR030 Leber Optic Atrophy ND6 m.14482C>A SNV Pathogenic 9693 rs199476108 MT:14482-14482 MT:14482-14482 LBR030 Leber Optic Atrophy ND5 m.13730G>A SNV Pathogenic 9697 rs387906425 MT:13730-13730 MT:13730-13730 LBR030 Leber Optic Atrophy ND5 m.13045A>C SNV Pathogenic 9700 rs267606895 MT:13045-13045 MT:13045-13045 LBR030 Leber Optic Atrophy ND5 m.13042G>A SNV Pathogenic 9703 rs267606898 MT:13042-13042 MT:13042-13042 LBR030 Leber Optic Atrophy ND5 m.12848C>T SNV Pathogenic 9704 rs267606899 MT:12848-12848 MT:12848-12848 LBR030 Leber Optic Atrophy ND4L m.10663T>C SNV Pathogenic 9707 rs1556423844 MT:10663-10663 MT:10663-10663 LBR030 Leber Optic Atrophy ND4 NC_012920.1:m.11778G>A SNV Pathogenic 9708 rs199476112 MT:11778-11778 MT:11778-11778 LBR030 Leber Optic Atrophy ND4 m.11777C>A SNV Pathogenic 9711 rs28384199 MT:11777-11777 MT:11777-11777 LBR030 Leber Optic Atrophy ND2 m.5244G>A SNV Pathogenic 9717 rs199476115 MT:5244-5244 MT:5244-5244 LBR030 Leber Optic Atrophy ND1 NC_012920.1:m.3460G>A SNV Pathogenic 9722 rs199476118 MT:3460-3460 MT:3460-3460 LBR030 Leber Optic Atrophy ND1 m.4160T>C SNV Pathogenic 9723 rs199476119 MT:4160-4160 MT:4160-4160 LBR030 Leber Optic Atrophy ND1 m.3697G>A SNV Pathogenic 9733 rs199476122 MT:3697-3697 MT:3697-3697 LBR030 Leber Optic Atrophy ND1 m.3733G>A SNV Pathogenic 9736 rs199476125 MT:3733-3733 MT:3733-3733 LBR030 Leber Optic Atrophy ND6 m.14482C>G SNV Pathogenic 65513 rs199476108 MT:14482-14482 MT:14482-14482 LBR030 Leber Optic Atrophy ND6 m.14568C>T SNV Pathogenic 65515 rs397515506 MT:14568-14568 MT:14568-14568 LBR030 Leber Optic Atrophy ND1 m.3700G>A SNV Pathogenic 65519 rs397515508 MT:3700-3700 MT:3700-3700 LBR030 Leber Optic Atrophy ND1 m.3376G>A SNV Pathogenic 65921 rs397515612 MT:3376-3376 MT:3376-3376 LBR030 Leber Optic Atrophy ND1 m.4171C>A SNV Likely pathogenic 9732 rs28616230 MT:4171-4171 MT:4171-4171 LBR030 Leber Optic Atrophy ND1 m.3635G>A SNV Likely pathogenic 65518 rs397515507 MT:3635-3635 MT:3635-3635 LBR030 Leber Optic Atrophy ND5 NC_012920.1:m.13051G>A SNV Likely pathogenic 430689 rs1131692063 MT:13051-13051 MT:13051-13051 LBR030 Leber Optic Atrophy NDUFS2 NM_004550.4(NDUFS2):c.268G>A (p.Ala90Thr) SNV Likely pathogenic 522715 rs1553249704 1:161176262-161176262 1:161206472-161206472 LBR030 Leber Optic Atrophy COX3 m.9804G>A SNV Conflicting interpretations of pathogenicity 9652 rs200613617 MT:9804-9804 MT:9804-9804 LBR030 Leber Optic Atrophy ND5 m.12811T>C SNV Conflicting interpretations of pathogenicity 65510 rs199974018 MT:12811-12811 MT:12811-12811 LBR030 Leber Optic Atrophy ND1 m.3394T>C SNV Conflicting interpretations of pathogenicity 9725 rs41460449 MT:3394-3394 MT:3394-3394 LBR030 Leber Optic Atrophy ND6 m.14498T>C SNV Uncertain significance 65514 rs869025186 MT:14498-14498 MT:14498-14498 LBR030 Leber Optic Atrophy ND4 NC_012920.1:m.11360A>G SNV Uncertain significance 523304 rs878928689 MT:11360-11360 MT:11360-11360 LBR030 Leber Optic Atrophy ATP6 NC_012920.1:m.8686T>C SNV Uncertain significance 585120 rs1569484231 MT:8686-8686 MT:8686-8686 LBR030 Leber Optic Atrophy ND6 m.14279G>A SNV Uncertain significance 65516 rs869025187 MT:14279-14279 MT:14279-14279 LBR030 Leber Optic Atrophy CYTB NC_012920.1(MT-CYB):m.15437G>A SNV Uncertain significance 235525 rs878853058 MT:15437-15437 MT:15437-15437 LBR030 Leber Optic Atrophy TRNL1 NC_012920.1:m.3275C>T SNV Benign 370045 rs1057516057 MT:3275-3275 MT:3275-3275 LBR030 Leber Optic Atrophy ND1 m.4025C>T SNV Benign 65520 rs397515509 MT:4025-4025 MT:4025-4025 LBR030 Leber Optic Atrophy CYTB m.14831G>A SNV Benign 65517 rs199795644 MT:14831-14831 MT:14831-14831 LBR030 Leber Optic Atrophy ND6 NC_012920.1(MT-ND6):m.14502T>C SNV Benign 690281 MT:14502-14502 MT:14502-14502 LBR030 Leber Optic Atrophy ATP6 m.9101T>C SNV Benign 9643 rs199476134 MT:9101-9101 MT:9101-9101 LBR030 Leber Optic Atrophy COX3 m.9438G>A SNV Benign 9651 rs267606611 MT:9438-9438 MT:9438-9438 LBR030 Leber Optic Atrophy COX1 NC_012920.1:m.7444G>A SNV Benign 9663 rs199474822 MT:7444-7444 MT:7444-7444 LBR030 Leber Optic Atrophy TRNS1 NC_012920.1:m.7444G>A SNV Benign 9663 rs199474822 MT:7444-7444 MT:7444-7444 LBR030 Leber Optic Atrophy CYTB m.15257G>A SNV Benign 9674 rs41518645 MT:15257-15257 MT:15257-15257 LBR030 Leber Optic Atrophy CYTB m.15812G>A SNV Benign 9675 rs200336777 MT:15812-15812 MT:15812-15812 LBR030 Leber Optic Atrophy ND4 m.11696G>A SNV Benign 9710 rs200873900 MT:11696-11696 MT:11696-11696 LBR030 Leber Optic Atrophy ND5 m.13708G>A SNV Benign 9696 rs28359178 MT:13708-13708 MT:13708-13708 LBR030 Leber Optic Atrophy ND5 m.13637A>G SNV Benign 65511 rs200855215 MT:13637-13637 MT:13637-13637 LBR030 Leber Optic Atrophy ND6 m.14325T>C SNV Benign 65512 rs397515505 MT:14325-14325 MT:14325-14325 LBR030 Leber Optic Atrophy ND5 m.12338T>C SNV Benign 29999 rs201863060 MT:12338-12338 MT:12338-12338 LBR030 Leber Optic Atrophy ND3 m.10237T>C SNV Benign 65508 rs1556423787 MT:10237-10237 MT:10237-10237 LBR030 Leber Optic Atrophy ND4 m.11253T>C SNV Benign 65509 rs200145866 MT:11253-11253 MT:11253-11253 LBR030 Leber Optic Atrophy ND1 m.4136A>G SNV Benign 9727 rs199476121 MT:4136-4136 MT:4136-4136 LBR030 Leber Optic Atrophy ND1 m.4216T>C SNV Benign 9724 rs1599988 MT:4216-4216 MT:4216-4216 LBR030 Leber Optic Atrophy ND2 m.4640C>A SNV Benign 9718 rs387906426 MT:4640-4640 MT:4640-4640 LBR030 Leber Optic Atrophy ND2 m.4917A>G SNV Benign 9716 rs28357980 MT:4917-4917 MT:4917-4917 LBR030 Leber Optic Atrophy ND6 m.14459G>A SNV Pathogenic 9689 rs199476105 MT:14459-14459 MT:14459-14459 LBR031 Leber Optic Atrophy and Dystonia ND6 m.14596A>T SNV Pathogenic 9690 rs387906424 MT:14596-14596 MT:14596-14596 LBR031 Leber Optic Atrophy and Dystonia ND3 m.10197G>A SNV Pathogenic 9715 rs267606891 MT:10197-10197 MT:10197-10197 LBR031 Leber Optic Atrophy and Dystonia ND1 m.3697G>A SNV Pathogenic 9733 rs199476122 MT:3697-3697 MT:3697-3697 LBR031 Leber Optic Atrophy and Dystonia ND4 m.11696G>A SNV Benign 9710 rs200873900 MT:11696-11696 MT:11696-11696 LBR031 Leber Optic Atrophy and Dystonia RPE65 NM_000329.3(RPE65):c.1101A>G (p.Arg367=) SNV Pathogenic 427868 rs1553152989 1:68903897-68903897 1:68438214-68438214 LBR036 Leber Plus Disease PDE6A NM_000440.3(PDE6A):c.2027+5G>T SNV Pathogenic 427858 rs794727166 5:149264037-149264037 5:149884474-149884474 LBR036 Leber Plus Disease AHI1 NM_001134831.2(AHI1):c.1912+5G>T SNV Pathogenic 427859 rs1554347012 6:135763715-135763715 6:135442577-135442577 LBR036 Leber Plus Disease CEP290 NM_025114.4(CEP290):c.1910-11T>G SNV Pathogenic 427860 rs1555220638 12:88508350-88508350 12:88114573-88114573 LBR036 Leber Plus Disease CEP290 NM_025114.4(CEP290):c.1623+5G>A SNV Pathogenic 427865 rs1555222073 12:88512415-88512415 12:88118638-88118638 LBR036 Leber Plus Disease RPGRIP1 NM_020366.3(RPGRIP1):c.564A>G (p.Glu188=) SNV Pathogenic 427869 rs574462207 14:21770720-21770720 14:21302561-21302561 LBR036 Leber Plus Disease SPATA7 NM_018418.5(SPATA7):c.19G>A (p.Val7Ile) SNV Pathogenic 427873 rs371609982 14:88852181-88852181 14:88385837-88385837 LBR036 Leber Plus Disease SPATA7 NM_018418.5(SPATA7):c.1215G>T (p.Glu405Asp) SNV Pathogenic 427862 rs768028061 14:88903941-88903941 14:88437597-88437597 LBR036 Leber Plus Disease CRB1 NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg) SNV Pathogenic 427863 rs62645747 1:197398744-197398744 1:197429614-197429614 LBR036 Leber Plus Disease RP2 NM_006915.3(RP2):c.102+3A>C SNV Pathogenic 427871 rs1556313557 X:46696640-46696640 X:46837205-46837205 LBR036 Leber Plus Disease RPGRIP1 NM_020366.3(RPGRIP1):c.2941C>T (p.Arg981Ter) SNV Pathogenic 438163 rs780667159 14:21796628-21796628 14:21328469-21328469 LBR036 Leber Plus Disease CEP290 NM_025114.4(CEP290):c.180+1G>A SNV Pathogenic 461777 rs758593134 12:88534732-88534732 12:88140955-88140955 LBR036 Leber Plus Disease USH2A NM_206933.3(USH2A):c.4957C>T (p.Arg1653Ter) SNV Pathogenic 488733 rs754768875 1:216260091-216260091 1:216086749-216086749 LBR036 Leber Plus Disease LCA5 NM_001122769.3(LCA5):c.1676C>A (p.Ser559Ter) SNV Pathogenic 438152 rs766143193 6:80197139-80197139 6:79487422-79487422 LBR036 Leber Plus Disease LCA5 NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter) SNV Pathogenic 438153 rs866395428 6:80203350-80203350 6:79493633-79493633 LBR036 Leber Plus Disease RPE65 NM_000329.3(RPE65):c.361dup (p.Ser121fs) duplication Pathogenic 559521 rs121918844 1:68910347-68910348 1:68444664-68444665 LBR036 Leber Plus Disease RP2 NM_006915.3(RP2):c.486_490del (p.Gly163fs) deletion Pathogenic 560495 rs1569531639 X:46713292-46713296 X:46853857-46853861 LBR036 Leber Plus Disease RPGRIP1 NM_020366.3(RPGRIP1):c.2440C>T (p.Arg814Ter) SNV Pathogenic 585296 rs759940113 14:21794062-21794062 14:21325903-21325903 LBR036 Leber Plus Disease CRB1 NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) SNV Pathogenic 635155 rs150412614 1:197396685-197396685 1:197427555-197427555 LBR036 Leber Plus Disease NR2E3 NM_014249.4(NR2E3):c.1171_1172del (p.Phe391fs) deletion Pathogenic 560470 rs574936510 15:72109960-72109961 15:71817619-71817620 LBR036 Leber Plus Disease GUCY2D NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln) SNV Pathogenic 560463 rs750889782 17:7917237-7917237 17:8013919-8013919 LBR036 Leber Plus Disease AIPL1 NM_014336.5(AIPL1):c.815G>C (p.Arg272Pro) SNV Pathogenic 635995 17:6329120-6329120 17:6425800-6425800 LBR036 Leber Plus Disease CEP290 NM_025114.4(CEP290):c.5587-1G>C SNV Pathogenic 636006 12:88471122-88471122 12:88077345-88077345 LBR036 Leber Plus Disease CRB1 NM_201253.3(CRB1):c.2680_2684del (p.Asn894fs) deletion Pathogenic 812301 1:197398580-197398584 1:197429450-197429454 LBR036 Leber Plus Disease RPE65 NM_000329.3(RPE65):c.227A>C (p.His76Pro) SNV Pathogenic 812408 1:68912411-68912411 1:68446728-68446728 LBR036 Leber Plus Disease TULP1 NM_003322.6(TULP1):c.1349G>A (p.Trp450Ter) SNV Pathogenic 812438 6:35467904-35467904 6:35500127-35500127 LBR036 Leber Plus Disease TULP1 NM_003322.6(TULP1):c.832_833insTCCC (p.Glu278fs) insertion Pathogenic 812441 6:35473946-35473947 6:35506169-35506170 LBR036 Leber Plus Disease TULP1 NM_003322.6(TULP1):c.781_782insCTCC (p.Lys261fs) insertion Pathogenic 812442 6:35477026-35477027 6:35509249-35509250 LBR036 Leber Plus Disease TULP1 NM_003322.6(TULP1):c.528_529insT (p.Lys177Ter) insertion Pathogenic 812443 6:35477676-35477677 6:35509899-35509900 LBR036 Leber Plus Disease LCA5 NM_001122769.3(LCA5):c.1171A>T (p.Lys391Ter) SNV Pathogenic 812346 6:80198861-80198861 6:79489144-79489144 LBR036 Leber Plus Disease GRM6 NM_000843.3(GRM6):c.(1354+1_1355-1)_(2436+1_2437-1)del deletion Pathogenic 636145 LBR036 Leber Plus Disease LCA5 NM_001122769.3(LCA5):c.238C>T (p.Arg80Ter) SNV Pathogenic 662038 6:80223411-80223411 6:79513694-79513694 LBR036 Leber Plus Disease CEP290 NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter) SNV Pathogenic 812264 12:88465625-88465625 12:88071848-88071848 LBR036 Leber Plus Disease AIPL1 NM_014336.5(AIPL1):c.215G>A (p.Trp72Ter) SNV Pathogenic 812218 17:6337300-6337300 17:6433980-6433980 LBR036 Leber Plus Disease AIPL1 NM_014336.5(AIPL1):c.211G>T (p.Val71Phe) SNV Pathogenic 812219 17:6337304-6337304 17:6433984-6433984 LBR036 Leber Plus Disease GUCY2D NM_000180.4(GUCY2D):c.1992T>G (p.His664Gln) SNV Pathogenic 812326 17:7915803-7915803 17:8012485-8012485 LBR036 Leber Plus Disease CRB1 NM_201253.3(CRB1):c.4005+1G>A SNV Pathogenic 812303 1:197411423-197411423 1:197442293-197442293 LBR036 Leber Plus Disease TULP1 NM_003322.6(TULP1):c.1495+2dup duplication Pathogenic 812437 6:35467755-35467756 6:35499978-35499979 LBR036 Leber Plus Disease CFAP410 NM_004928.3(CFAP410):c.643-2A>G SNV Pathogenic 812235 21:45750211-45750211 21:44330328-44330328 LBR036 Leber Plus Disease LCA5 NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) SNV Pathogenic 968 rs121918165 6:80203353-80203353 6:79493636-79493636 LBR036 Leber Plus Disease CEP290 NM_025114.4(CEP290):c.21G>T (p.Trp7Cys) SNV Pathogenic 1335 rs62635288 12:88535064-88535064 12:88141287-88141287 LBR036 Leber Plus Disease IQCB1 NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) deletion Pathogenic 1831 rs750962965 3:121527825-121527826 3:121808978-121808979 LBR036 Leber Plus Disease RDH12 NM_152443.3(RDH12):c.164C>T (p.Thr55Met) SNV Pathogenic 805928 14:68191285-68191285 14:67724568-67724568 LBR036 Leber Plus Disease CRB1 NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr) SNV Pathogenic 812296 1:197297936-197297936 1:197328806-197328806 LBR036 Leber Plus Disease RPGRIP1 NM_020366.3(RPGRIP1):c.194G>A (p.Trp65Ter) SNV Pathogenic 4983 rs137853124 14:21762944-21762944 14:21294785-21294785 LBR036 Leber Plus Disease AIPL1 NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) SNV Pathogenic 5565 rs62637014 17:6329101-6329101 17:6425781-6425781 LBR036 Leber Plus Disease CRB1 NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg) SNV Pathogenic 5739 rs62636275 1:197404300-197404300 1:197435170-197435170 LBR036 Leber Plus Disease CRB1 NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs) deletion Pathogenic 5740 rs281865175 1:197446905-197446914 1:197477775-197477784 LBR036 Leber Plus Disease GRM6 NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter) SNV Pathogenic 5840 rs62638214 5:178413394-178413394 5:178986393-178986393 LBR036 Leber Plus Disease RGS9 NM_003835.4(RGS9):c.895T>C (p.Trp299Arg) SNV Pathogenic 5862 rs121908449 17:63193278-63193278 17:65197160-65197160 LBR036 Leber Plus Disease PEX1 NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) SNV Pathogenic 7516 rs61750420 7:92130876-92130876 7:92501562-92501562 LBR036 Leber Plus Disease RPE65 NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) SNV Pathogenic 13115 rs61752871 1:68910541-68910541 1:68444858-68444858 LBR036 Leber Plus Disease CDHR1 NM_033100.4(CDHR1):c.524dup (p.Asn176fs) duplication Pathogenic 18416 rs781781440 10:85960441-85960442 10:84200685-84200686 LBR036 Leber Plus Disease IQCB1 NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter) SNV Pathogenic 30779 rs387907009 3:121509013-121509013 3:121790166-121790166 LBR036 Leber Plus Disease NMNAT1 NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) SNV Pathogenic 37134 rs150726175 1:10042688-10042688 1:9982630-9982630 LBR036 Leber Plus Disease CEP290 NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) SNV Pathogenic 56733 rs386834152 12:88508265-88508265 12:88114488-88114488 LBR036 Leber Plus Disease RPGRIP1 NM_020366.3(RPGRIP1):c.2775G>A (p.Trp925Ter) SNV Pathogenic 95949 rs398124354 14:21795846-21795846 14:21327687-21327687 LBR036 Leber Plus Disease RPGRIP1 NM_020366.3(RPGRIP1):c.1107del (p.Glu370fs) deletion Pathogenic 99809 rs61751266 14:21780617-21780617 14:21312458-21312458 LBR036 Leber Plus Disease CEP290 NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter) SNV Pathogenic 99856 rs62640574 12:88477665-88477665 12:88083888-88083888 LBR036 Leber Plus Disease CRB1 NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr) SNV Pathogenic 99866 rs62645754 1:197326120-197326120 1:197356990-197356990 LBR036 Leber Plus Disease CRB1 NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr) SNV Pathogenic 99883 rs62636271 1:197397010-197397010 1:197427880-197427880 LBR036 Leber Plus Disease CRB1 NM_201253.3(CRB1):c.613_619del (p.Ile205fs) deletion Pathogenic 99913 rs62645752 1:197298091-197298097 1:197328961-197328967 LBR036 Leber Plus Disease CRB1 NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter) SNV Pathogenic 143167 rs114342808 1:197390534-197390534 1:197421404-197421404 LBR036 Leber Plus Disease GUCY2D NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) SNV Pathogenic 98563 rs61750168 17:7917236-7917236 17:8013918-8013918 LBR036 Leber Plus Disease GUCY2D NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) deletion Pathogenic 98602 rs61749670 17:7906752-7906752 17:8003434-8003434 LBR036 Leber Plus Disease RPE65 NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) deletion Pathogenic 98860 rs62642583 1:68910501-68910520 1:68444818-68444837 LBR036 Leber Plus Disease RPE65 NM_000329.3(RPE65):c.95-2A>T SNV Pathogenic 98899 rs61751279 1:68912545-68912545 1:68446862-68446862 LBR036 Leber Plus Disease ABCA4 NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) SNV Pathogenic 99114 rs61749423 1:94526212-94526212 1:94060656-94060656 LBR036 Leber Plus Disease CLUAP1 NM_015041.3(CLUAP1):c.817C>T (p.Leu273Phe) SNV Pathogenic 224333 rs751218423 16:3573261-3573261 16:3523261-3523261 LBR036 Leber Plus Disease IQCB1 NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter) SNV Pathogenic 285623 rs201405662 3:121547366-121547366 3:121828519-121828519 LBR036 Leber Plus Disease CEP290 NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) SNV Pathogenic 217626 rs539400286 12:88479860-88479860 12:88086083-88086083 LBR036 Leber Plus Disease CEP290 NM_025114.4(CEP290):c.1666del (p.Ile556fs) deletion Pathogenic 217622 rs727503855 12:88512305-88512305 12:88118528-88118528 LBR036 Leber Plus Disease CNGB3 NM_019098.4(CNGB3):c.819_826del (p.Arg274fs) deletion Pathogenic 374027 rs775796581 8:87679179-87679186 8:86666951-86666958 LBR036 Leber Plus Disease CNGB3 NM_019098.4(CNGB3):c.991-3T>G SNV Pathogenic/Likely pathogenic 188827 rs773372519 8:87656917-87656917 8:86644689-86644689 LBR036 Leber Plus Disease ABCA4 NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) SNV Pathogenic/Likely pathogenic 99330 rs61751404 1:94486896-94486896 1:94021340-94021340 LBR036 Leber Plus Disease RDH12 NM_152443.3(RDH12):c.524C>T (p.Ser175Leu) SNV Pathogenic/Likely pathogenic 559527 rs116733939 14:68193773-68193773 14:67727056-67727056 LBR036 Leber Plus Disease RPGRIP1 NM_020366.3(RPGRIP1):c.1116del (p.Lys372fs) deletion Likely pathogenic 438160 rs776880045 14:21780627-21780627 14:21312468-21312468 LBR036 Leber Plus Disease RPE65 NM_000329.3(RPE65):c.718G>T (p.Val240Phe) SNV Likely pathogenic 559520 rs192907397 1:68905251-68905251 1:68439568-68439568 LBR036 Leber Plus Disease TULP1 NM_003322.6(TULP1):c.855dup (p.Val286fs) duplication Likely pathogenic 505327 rs1554125752 6:35473923-35473924 6:35506146-35506147 LBR036 Leber Plus Disease RPGRIP1 NM_020366.3(RPGRIP1):c.3120G>A (p.Trp1040Ter) SNV Likely pathogenic 438164 rs1555303320 14:21798428-21798428 14:21330269-21330269 LBR036 Leber Plus Disease GUCY2D NM_000180.4(GUCY2D):c.3098_3099insCGTGCTCT (p.Gly1034fs) insertion Likely pathogenic 437980 rs1555635925 17:7919299-7919300 17:8015981-8015982 LBR036 Leber Plus Disease RPGRIP1 deletion Likely pathogenic 438255 14:21784106-21791536 14:21315947-21323377 LBR036 Leber Plus Disease RPE65 NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser) SNV Likely pathogenic 427864 rs1420672586 1:68896965-68896965 1:68431282-68431282 LBR036 Leber Plus Disease CRB1 NM_201253.3(CRB1):c.2220dup (p.Met741fs) duplication Likely pathogenic 438074 rs1553261468 1:197396673-197396674 1:197427543-197427544 LBR036 Leber Plus Disease NMNAT1 NM_022787.4(NMNAT1):c.155G>T (p.Gly52Val) SNV Likely pathogenic 438132 rs768528387 1:10035689-10035689 1:9975631-9975631 LBR036 Leber Plus Disease NMNAT1 NM_022787.4(NMNAT1):c.485C>A (p.Ser162Tyr) SNV Likely pathogenic 438133 rs1553128102 1:10042404-10042404 1:9982346-9982346 LBR036 Leber Plus Disease NMNAT1 NM_022787.4(NMNAT1):c.661dup (p.Ile221fs) duplication Likely pathogenic 438134 rs775978677 1:10042579-10042580 1:9982521-9982522 LBR036 Leber Plus Disease NMNAT1 NM_022787.4(NMNAT1):c.736G>C (p.Glu246Gln) SNV Likely pathogenic 438135 rs747653875 1:10042655-10042655 1:9982597-9982597 LBR036 Leber Plus Disease IQCB1 NM_001023570.4(IQCB1):c.260T>G (p.Leu87Ter) SNV Likely pathogenic 438040 rs1553722736 3:121547320-121547320 3:121828473-121828473 LBR036 Leber Plus Disease RP2 NM_006915.3(RP2):c.102G>A (p.Lys34=) SNV Likely pathogenic 427872 rs1556313552 X:46696637-46696637 X:46837202-46837202 LBR036 Leber Plus Disease GUCY2D NM_000180.4(GUCY2D):c.2129C>T (p.Ala710Val) SNV Likely pathogenic 812327 17:7916436-7916436 17:8013118-8013118 LBR036 Leber Plus Disease LRAT NM_004744.5(LRAT):c.40G>T (p.Glu14Ter) SNV Likely pathogenic 667379 4:155665518-155665518 4:154744366-154744366 LBR036 Leber Plus Disease INPP5E NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln) SNV Likely pathogenic 812336 9:139324200-139324200 9:136429748-136429748 LBR036 Leber Plus Disease GUCY2D NM_000180.4(GUCY2D):c.1433_1442dup (p.Phe482fs) duplication Likely pathogenic 636034 17:7910425-7910426 17:8007107-8007108 LBR036 Leber Plus Disease GUCY2D NM_000180.4(GUCY2D):c.2234del (p.Pro745fs) deletion Likely pathogenic 636035 17:7916538-7916538 17:8013220-8013220 LBR036 Leber Plus Disease CEP290 NM_025114.4(CEP290):c.6871C>T (p.Gln2291Ter) SNV Likely pathogenic 636007 12:88449442-88449442 12:88055665-88055665 LBR036 Leber Plus Disease AIPL1 NM_014336.4:c.(?_-1)_(276+1_277-1)del deletion Likely pathogenic 636136 LBR036 Leber Plus Disease CRB1 NM_201253.3(CRB1):c.1733T>A (p.Val578Glu) SNV Likely pathogenic 812298 1:197390691-197390691 1:197421561-197421561 LBR036 Leber Plus Disease KCNJ13 NM_002242.4(KCNJ13):c.458C>T (p.Thr153Ile) SNV Likely pathogenic 216947 rs863224884 2:233635615-233635615 2:232770905-232770905 LBR036 Leber Plus Disease CRX NM_000554.6(CRX):c.648del (p.Ser216fs) deletion Likely pathogenic 224738 rs869312175 19:48342972-48342972 19:47839715-47839715 LBR036 Leber Plus Disease NDUFAF5 NM_024120.5(NDUFAF5):c.290G>A (p.Gly97Asp) SNV Likely pathogenic 374217 rs1555830705 20:13769261-13769261 20:13788615-13788615 LBR036 Leber Plus Disease RPGRIP1 NM_020366.3(RPGRIP1):c.3339+5G>A SNV Likely pathogenic 372988 rs1057518122 14:21802869-21802869 14:21334710-21334710 LBR036 Leber Plus Disease SLC38A8 NM_001080442.2(SLC38A8):c.388+5G>A SNV Likely pathogenic 383962 rs760391436 16:84070302-84070302 16:84036697-84036697 LBR036 Leber Plus Disease LRAT NM_004744.5(LRAT):c.*2529C>T SNV Conflicting interpretations of pathogenicity 347877 rs185391295 4:155672817-155672817 4:154751665-154751665 LBR036 Leber Plus Disease LRAT NM_004744.5(LRAT):c.*98C>T SNV Conflicting interpretations of pathogenicity 347852 rs529360609 4:155670386-155670386 4:154749234-154749234 LBR036 Leber Plus Disease TULP1 NM_003322.6(TULP1):c.1341G>A (p.Leu447=) SNV Conflicting interpretations of pathogenicity 356466 rs61734562 6:35467912-35467912 6:35500135-35500135 LBR036 Leber Plus Disease NPHP1 NM_000272.3(NPHP1):c.625-3dup duplication Conflicting interpretations of pathogenicity 156395 rs200118387 2:110922740-110922740 2:110165157-110165158 LBR036 Leber Plus Disease CEP290 NM_025114.4(CEP290):c.2484-18GTTTT[4] short repeat Conflicting interpretations of pathogenicity 220050 rs745522483 12:88500878-88500879 12:88107101-88107102 LBR036 Leber Plus Disease RPE65 NM_000329.3(RPE65):c.1243+10T>C SNV Conflicting interpretations of pathogenicity 298019 rs548537552 1:68897144-68897144 1:68431461-68431461 LBR036 Leber Plus Disease CNGB3 NM_019098.4(CNGB3):c.1148del (p.Thr383fs) deletion Conflicting interpretations of pathogenicity 5225 rs397515360 8:87656009-87656009 8:86643781-86643781 LBR036 Leber Plus Disease CRB1 NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter) SNV Conflicting interpretations of pathogenicity 438069 rs369775002 1:197390141-197390141 1:197421011-197421011 LBR036 Leber Plus Disease RPE65 NM_000329.3(RPE65):c.419G>A (p.Gly140Glu) SNV Conflicting interpretations of pathogenicity 467827 rs1191496583 1:68910290-68910290 1:68444607-68444607 LBR036 Leber Plus Disease RPE65 NM_000329.3(RPE65):c.242G>T (p.Arg81Ile) SNV Conflicting interpretations of pathogenicity 559523 rs1429137932 1:68912396-68912396 1:68446713-68446713 LBR036 Leber Plus Disease ADAMTS18 NM_199355.4(ADAMTS18):c.3463C>T (p.Arg1155Trp) SNV Uncertain significance 559528 rs143681049 16:77323248-77323248 16:77289351-77289351 LBR036 Leber Plus Disease ADAMTS18 NM_199355.4(ADAMTS18):c.3419G>T (p.Gly1140Val) SNV Uncertain significance 559529 rs1567453873 16:77323292-77323292 16:77289395-77289395 LBR036 Leber Plus Disease RPGRIP1 NM_020366.3(RPGRIP1):c.1611G>A (p.Gln537=) SNV Uncertain significance 425034 rs1064797181 14:21789561-21789561 14:21321402-21321402 LBR036 Leber Plus Disease USH2A NM_206933.3(USH2A):c.7061G>A (p.Arg2354His) SNV Uncertain significance 552369 rs201386640 1:216138718-216138718 1:215965376-215965376 LBR036 Leber Plus Disease USH2A NM_206933.3(USH2A):c.14473C>T (p.His4825Tyr) SNV Uncertain significance 559524 rs1158010100 1:215821979-215821979 1:215648637-215648637 LBR036 Leber Plus Disease USH2A NM_007123.5(USH2A):c.2135del (p.Asn711_Ser712insTer) deletion Uncertain significance 559525 rs1238314101 1:216424277-216424277 1:216250935-216250935 LBR036 Leber Plus Disease USH2A NM_206933.3(USH2A):c.1961T>C (p.Leu654Pro) SNV Uncertain significance 559526 rs1321779316 1:216462632-216462632 1:216289290-216289290 LBR036 Leber Plus Disease IMPDH1 NM_000883.4(IMPDH1):c.978G>C (p.Gln326His) SNV Uncertain significance 636176 7:128038564-128038564 7:128398510-128398510 LBR036 Leber Plus Disease AIPL1 NM_014336.5(AIPL1):c.730_732GAG[1] (p.Glu245del) short repeat Uncertain significance 636148 17:6329984-6329986 17:6426664-6426666 LBR036 Leber Plus Disease PRPF31 NM_015629.4(PRPF31):c.1336T>C (p.Ser446Pro) SNV Uncertain significance 636188 19:54632707-54632707 19:54129332-54129332 LBR036 Leber Plus Disease AIPL1 NM_014336.5(AIPL1):c.465G>T (p.Gln155His) SNV Uncertain significance 635994 17:6331638-6331638 17:6428318-6428318 LBR036 Leber Plus Disease PANK2 NM_153638.3(PANK2):c.1283G>A (p.Cys428Tyr) SNV Uncertain significance 560474 rs1012947103 20:3893152-3893152 20:3912505-3912505 LBR036 Leber Plus Disease CRB1 NM_201253.3(CRB1):c.4154A>G (p.Glu1385Gly) SNV Uncertain significance 636018 1:197446942-197446942 1:197477812-197477812 LBR036 Leber Plus Disease GUCY2D NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn) SNV Uncertain significance 803314 17:7912827-7912827 17:8009509-8009509 LBR036 Leber Plus Disease GUCA1B NM_002098.6(GUCA1B):c.103G>A (p.Gly35Ser) SNV Uncertain significance 156397 rs587783025 6:42162456-42162456 6:42194718-42194718 LBR036 Leber Plus Disease NPHP4 NM_015102.5(NPHP4):c.2360T>A (p.Val787Glu) SNV Uncertain significance 156398 rs587783026 1:5947471-5947471 1:5887411-5887411 LBR036 Leber Plus Disease NPHP4 NM_015102.5(NPHP4):c.2198G>A (p.Gly733Asp) SNV Uncertain significance 156399 rs587783027 1:5951034-5951034 1:5890974-5890974 LBR036 Leber Plus Disease USH2A NM_206933.3(USH2A):c.14243C>T (p.Ser4748Phe) SNV Uncertain significance 143175 rs527236126 1:215824034-215824034 1:215650692-215650692 LBR036 Leber Plus Disease RBP1 NM_002899.5(RBP1):c.387_400del (p.Lys131fs) deletion Uncertain significance 156390 rs587783020 3:139257661-139257674 3:139538819-139538832 LBR036 Leber Plus Disease RIMS1 NM_014989.5(RIMS1):c.3139del (p.Thr1047fs) deletion Uncertain significance 156391 rs587783021 6:72974697-72974697 6:72264994-72264994 LBR036 Leber Plus Disease NPHP3 NM_153240.5(NPHP3):c.1735A>C (p.Thr579Pro) SNV Uncertain significance 156392 rs587783022 3:132419186-132419186 3:132700342-132700342 LBR036 Leber Plus Disease USH2A NM_206933.3(USH2A):c.2414G>C (p.Gly805Ala) SNV Uncertain significance 156393 rs587783023 1:216420322-216420322 1:216246980-216246980 LBR036 Leber Plus Disease LRP5 NM_002335.4(LRP5):c.1697G>A (p.Arg566His) SNV Uncertain significance 156394 rs587783024 11:68171063-68171063 11:68403595-68403595 LBR036 Leber Plus Disease RPE65 NM_000329.3(RPE65):c.*735del deletion Uncertain significance 298012 rs577675068 1:68894724-68894724 1:68429041-68429041 LBR036 Leber Plus Disease KCNJ13 NM_002242.4(KCNJ13):c.*1742dup duplication Uncertain significance 335035 rs746052279 2:233631158-233631159 2:232766448-232766449 LBR036 Leber Plus Disease KCNJ13 NM_002242.4(KCNJ13):c.*1482_*1484del deletion Uncertain significance 335037 rs774385692 2:233631417-233631419 2:232766707-232766709 LBR036 Leber Plus Disease KCNJ13 NM_002242.4(KCNJ13):c.*179_*180CT[1] short repeat Uncertain significance 335048 rs758195599 2:233632719-233632720 2:232768009-232768010 LBR036 Leber Plus Disease LRAT NM_004744.5(LRAT):c.205C>T (p.Arg69Cys) SNV Uncertain significance 347848 rs775838916 4:155665683-155665683 4:154744531-154744531 LBR036 Leber Plus Disease LRAT NM_004744.5(LRAT):c.258G>A (p.Gly86=) SNV Uncertain significance 347850 rs768389044 4:155665736-155665736 4:154744584-154744584 LBR036 Leber Plus Disease LRAT NM_004744.5(LRAT):c.403G>T (p.Ala135Ser) SNV Uncertain significance 347851 rs139819099 4:155665881-155665881 4:154744729-154744729 LBR036 Leber Plus Disease LRAT NM_004744.5(LRAT):c.*298_*301del deletion Uncertain significance 347854 rs886059162 4:155670583-155670586 4:154749431-154749434 LBR036 Leber Plus Disease RD3 NM_001164688.1(RD3):c.-336_-335AC[21] short repeat Uncertain significance 295276 rs34485370 1:211665391-211665392 1:211492049-211492050 LBR036 Leber Plus Disease RD3 NM_001164688.1(RD3):c.-336_-335AC[19] short repeat Uncertain significance 295274 rs34485370 1:211665391-211665396 1:211492049-211492054 LBR036 Leber Plus Disease RD3 NM_183059.2(RD3):c.*1583del deletion Uncertain significance 295233 rs775682217 1:211650795-211650795 1:211477453-211477453 LBR036 Leber Plus Disease RD3 NM_183059.2(RD3):c.*1582del deletion Uncertain significance 295235 rs879756831 1:211650796-211650796 1:211477454-211477454 LBR036 Leber Plus Disease RD3 NM_183059.2(RD3):c.*1582dup duplication Uncertain significance 295234 rs879756831 1:211650795-211650796 1:211477453-211477454 LBR036 Leber Plus Disease RD3 NM_001164688.1(RD3):c.-166_-165GA[1] short repeat Uncertain significance 295264 rs886045903 1:211665261-211665262 1:211491919-211491920 LBR036 Leber Plus Disease RD3 NM_183059.2(RD3):c.-295_-294del deletion Uncertain significance 295268 rs1553282313 1:211665389-211665390 1:211492047-211492048 LBR036 Leber Plus Disease RD3 NM_183059.2(RD3):c.-296_-295dup duplication Uncertain significance 295269 rs1491560139 1:211665389-211665390 1:211492047-211492048 LBR036 Leber Plus Disease RD3 NM_001164688.1(RD3):c.-336_-335AC[23] short repeat Uncertain significance 295271 rs34485370 1:211665390-211665391 1:211492048-211492049 LBR036 Leber Plus Disease RD3 NM_001164688.1(RD3):c.-336_-335AC[20] short repeat Uncertain significance 295273 rs34485370 1:211665391-211665394 1:211492049-211492052 LBR036 Leber Plus Disease RD3 NM_001164688.1(RD3):c.-336_-335AC[24] short repeat Uncertain significance 295272 rs34485370 1:211665390-211665391 1:211492048-211492049 LBR036 Leber Plus Disease RD3 NM_001164688.1(RD3):c.-336_-335AC[16] short repeat Uncertain significance 295275 rs34485370 1:211665391-211665402 1:211492049-211492060 LBR036 Leber Plus Disease RD3 NM_183059.2(RD3):c.-307_-297delinsC indel Uncertain significance 295278 rs886045911 1:211665392-211665402 1:211492050-211492060 LBR036 Leber Plus Disease RD3 NM_183059.2(RD3):c.-340_-339del deletion Uncertain significance 295284 rs886045915 1:211665434-211665435 1:211492092-211492093 LBR036 Leber Plus Disease RD3 NM_183059.2(RD3):c.*1305del deletion Uncertain significance 295241 rs886045896 1:211651073-211651073 1:211477731-211477731 LBR036 Leber Plus Disease CRB1 NM_201253.3(CRB1):c.1172-15T>A SNV Uncertain significance 294669 rs375141011 1:197390115-197390115 1:197420985-197420985 LBR036 Leber Plus Disease RD3 NM_183059.2(RD3):c.-305_-297delinsC indel Uncertain significance 295277 rs886045910 1:211665392-211665400 1:211492050-211492058 LBR036 Leber Plus Disease RD3 NM_183059.2(RD3):c.-343_-340del deletion Uncertain significance 295285 rs886045916 1:211665435-211665438 1:211492093-211492096 LBR036 Leber Plus Disease DTHD1 NM_001170700.3(DTHD1):c.256T>C (p.Cys86Arg) SNV Uncertain significance 242990 rs886037840 4:36283636-36283636 4:36282014-36282014 LBR036 Leber Plus Disease LCA5 NM_001122769.3(LCA5):c.-251G>A SNV Uncertain significance 358112 rs886061793 6:80246941-80246941 6:79537224-79537224 LBR036 Leber Plus Disease LRAT NM_004744.5(LRAT):c.*2741_*2743dup duplication Uncertain significance 347880 rs528370871 4:155673028-155673029 4:154751876-154751877 LBR036 Leber Plus Disease LRAT NM_004744.5(LRAT):c.*3264G>A SNV Uncertain significance 347882 rs115053323 4:155673552-155673552 4:154752400-154752400 LBR036 Leber Plus Disease LRAT NM_004744.5(LRAT):c.*2418G>A SNV Uncertain significance 347872 rs886059170 4:155672706-155672706 4:154751554-154751554 LBR036 Leber Plus Disease LRAT NM_004744.5(LRAT):c.*2463T>C SNV Uncertain significance 347874 rs530211304 4:155672751-155672751 4:154751599-154751599 LBR036 Leber Plus Disease LRAT NM_004744.5(LRAT):c.*2477_*2479del deletion Uncertain significance 347876 rs769393659 4:155672763-155672765 4:154751611-154751613 LBR036 Leber Plus Disease LRAT NM_004744.5(LRAT):c.*3729del deletion Uncertain significance 347888 rs886059177 4:155674010-155674010 4:154752858-154752858 LBR036 Leber Plus Disease LRAT NM_004744.5(LRAT):c.*3819T>C SNV Uncertain significance 347890 rs191600425 4:155674107-155674107 4:154752955-154752955 LBR036 Leber Plus Disease LCA5 NM_001122769.3(LCA5):c.*22dup duplication Uncertain significance 358087 rs767286706 6:80196698-80196699 6:79486981-79486982 LBR036 Leber Plus Disease LCA5 NM_001122769.3(LCA5):c.*35del deletion Uncertain significance 358086 rs747368961 6:80196686-80196686 6:79486969-79486969 LBR036 Leber Plus Disease CEP290 NM_025114.4(CEP290):c.442-22_442-21dup duplication Uncertain significance 310630 rs199511358 12:88525005-88525006 12:88131228-88131229 LBR036 Leber Plus Disease CEP290 NM_001009894.3(C12orf29):c.*618_*621TATT[1] short repeat Uncertain significance 310583 rs886049876 12:88442815-88442818 12:88049038-88049041 LBR036 Leber Plus Disease CEP290 NM_025114.4(CEP290):c.7209+11_7209+14del deletion Uncertain significance 310587 rs750259100 12:88444117-88444120 12:88050340-88050343 LBR036 Leber Plus Disease CEP290 NM_025114.4(CEP290):c.442-11del deletion Uncertain significance 310631 rs199511358 12:88525006-88525006 12:88131229-88131229 LBR036 Leber Plus Disease CEP290 NM_025114.4(CEP290):c.442-22dup duplication Uncertain significance 310629 rs199511358 12:88525005-88525006 12:88131228-88131229 LBR036 Leber Plus Disease RPGRIP1 NM_020366.3(RPGRIP1):c.3748+17dup duplication Uncertain significance 312801 rs578107768 14:21816469-21816470 14:21348310-21348311 LBR036 Leber Plus Disease AIPL1 NM_014336.5(AIPL1):c.*1398G>A SNV Uncertain significance 324576 rs886053259 17:6327382-6327382 17:6424062-6424062 LBR036 Leber Plus Disease AIPL1 NM_014336.5(AIPL1):c.*730dup duplication Uncertain significance 324593 rs559951043 17:6328049-6328050 17:6424729-6424730 LBR036 Leber Plus Disease AIPL1 NM_014336.5(AIPL1):c.*151_*152dup duplication Uncertain significance 324602 rs77115868 17:6328627-6328628 17:6425307-6425308 LBR036 Leber Plus Disease AIPL1 NM_014336.4(AIPL1):c.-52G>T SNV Uncertain significance 324625 rs377376064 17:6338476-6338476 17:6435156-6435156 LBR036 Leber Plus Disease CEP290 NM_025114.4(CEP290):c.5227-14del deletion Uncertain significance 310596 rs747878752 12:88473020-88473020 12:88079243-88079243 LBR036 Leber Plus Disease LRAT NM_004744.5(LRAT):c.*2625A>G SNV Uncertain significance 347878 rs77071498 4:155672913-155672913 4:154751761-154751761 LBR036 Leber Plus Disease LRAT NM_004744.5(LRAT):c.*3459dup duplication Uncertain significance 347884 rs369562633 4:155673737-155673738 4:154752585-154752586 LBR036 Leber Plus Disease LRAT NM_004744.5(LRAT):c.*3712G>C SNV Uncertain significance 347887 rs144961748 4:155674000-155674000 4:154752848-154752848 LBR036 Leber Plus Disease LRAT NM_004744.5(LRAT):c.-115C>G SNV Uncertain significance 347845 rs886059159 4:155665261-155665261 4:154744109-154744109 LBR036 Leber Plus Disease LRAT NM_004744.5(LRAT):c.*313del deletion Uncertain significance 347855 rs146990234 4:155670593-155670593 4:154749441-154749441 LBR036 Leber Plus Disease LRAT NM_004744.5(LRAT):c.*2453C>A SNV Uncertain significance 347873 rs886059171 4:155672741-155672741 4:154751589-154751589 LBR036 Leber Plus Disease LRAT NM_004744.5(LRAT):c.*2467C>G SNV Uncertain significance 347875 rs886059172 4:155672755-155672755 4:154751603-154751603 LBR036 Leber Plus Disease LRAT NM_004744.5(LRAT):c.*3435A>C SNV Uncertain significance 347883 rs886059176 4:155673723-155673723 4:154752571-154752571 LBR036 Leber Plus Disease CRB1 NM_201253.3(CRB1):c.*331_*337dup duplication Uncertain significance 294694 rs886045790 1:197447336-197447337 1:197478206-197478207 LBR036 Leber Plus Disease LRAT NM_004744.5(LRAT):c.*3T>G SNV Uncertain significance 167259 rs200942685 4:155670291-155670291 4:154749139-154749139 LBR036 Leber Plus Disease LRAT NM_004744.5(LRAT):c.*1585T>G SNV Uncertain significance 347866 rs886059168 4:155671873-155671873 4:154750721-154750721 LBR036 Leber Plus Disease LRAT NM_004744.5(LRAT):c.-2+7A>C SNV Uncertain significance 347847 rs886059161 4:155665381-155665381 4:154744229-154744229 LBR036 Leber Plus Disease LRAT NM_004744.5(LRAT):c.*549T>C SNV Uncertain significance 347857 rs886059165 4:155670837-155670837 4:154749685-154749685 LBR036 Leber Plus Disease LRAT NM_004744.5(LRAT):c.*640T>C SNV Uncertain significance 347859 rs574458445 4:155670928-155670928 4:154749776-154749776 LBR036 Leber Plus Disease NDUFAF5 NM_024120.5(NDUFAF5):c.1029dup (p.Ser344fs) duplication Uncertain significance 374218 rs778575439 20:13797841-13797842 20:13817195-13817196 LBR036 Leber Plus Disease CRX NM_000554.6(CRX):c.*754_*756dup duplication Uncertain significance 329720 rs60558029 19:48343960-48343961 19:47840703-47840704 LBR036 Leber Plus Disease CEP290 NM_025114.4(CEP290):c.3309+2_3309+3dup duplication Uncertain significance 310608 rs886049881 12:88487542-88487543 12:88093765-88093766 LBR036 Leber Plus Disease AIPL1 NM_014336.5(AIPL1):c.*887_*891CAAAA[2] short repeat Uncertain significance 324589 rs375369909 17:6327879-6327883 17:6424559-6424563 LBR036 Leber Plus Disease AIPL1 NM_014336.5(AIPL1):c.*153_*155del deletion Uncertain significance 324599 rs886053262 17:6328625-6328627 17:6425305-6425307 LBR036 Leber Plus Disease AIPL1 NM_014336.5(AIPL1):c.*153del deletion Uncertain significance 324601 rs886053264 17:6328627-6328627 17:6425307-6425307 LBR036 Leber Plus Disease AIPL1 NM_014336.5(AIPL1):c.*150_*151insCAA insertion Uncertain significance 324604 rs200523461 17:6328629-6328630 17:6425309-6425310 LBR036 Leber Plus Disease AIPL1 NM_014336.4(AIPL1):c.-21A>G SNV Uncertain significance 324624 rs373772674 17:6338445-6338445 17:6435125-6435125 LBR036 Leber Plus Disease CRX NM_000554.6(CRX):c.*1621_*1623dup duplication Uncertain significance 329743 rs59559801 19:48344828-48344829 19:47841571-47841572 LBR036 Leber Plus Disease AIPL1 NM_014336.5(AIPL1):c.*153_*154del deletion Uncertain significance 324600 rs886053263 17:6328626-6328627 17:6425306-6425307 LBR036 Leber Plus Disease AIPL1 NM_014336.4(AIPL1):c.-73A>G SNV Uncertain significance 324626 rs751249166 17:6338497-6338497 17:6435177-6435177 LBR036 Leber Plus Disease CRX NM_000554.6(CRX):c.*435del deletion Uncertain significance 329710 rs886054551 19:48343649-48343649 19:47840392-47840392 LBR036 Leber Plus Disease CRX NM_000554.6(CRX):c.*756dup duplication Uncertain significance 329719 rs60558029 19:48343960-48343961 19:47840703-47840704 LBR036 Leber Plus Disease CRX NM_000554.6(CRX):c.*1654dup duplication Likely benign 329744 rs138321430 19:48344874-48344875 19:47841617-47841618 LBR036 Leber Plus Disease AIPL1 NM_014336.5(AIPL1):c.*151_*152del deletion Likely benign 324603 rs77115868 17:6328628-6328629 17:6425308-6425309 LBR036 Leber Plus Disease AIPL1 NM_014336.4(AIPL1):c.-106C>A SNV Likely benign 369221 rs7211442 17:6338530-6338530 17:6435210-6435210 LBR036 Leber Plus Disease AIPL1 NM_014336.4(AIPL1):c.-107C>G SNV Likely benign 369222 rs149098937 17:6338531-6338531 17:6435211-6435211 LBR036 Leber Plus Disease IMPDH1 NR_148338.1(LOC107986845):n.884G>A SNV Likely benign 369577 rs183121204 7:128032328-128032328 7:128392274-128392274 LBR036 Leber Plus Disease LRAT NM_004744.5(LRAT):c.*2258_*2259insTGTTGTGCTGAGTTT insertion Likely benign 347869 rs372786858 4:155672544-155672545 4:154751392-154751393 LBR036 Leber Plus Disease RD3 NM_183059.2(RD3):c.*1307_*1308insCT insertion Likely benign 295240 rs142577368 1:211651070-211651071 1:211477728-211477729 LBR036 Leber Plus Disease TULP1 NM_003322.6(TULP1):c.*273del deletion Likely benign 356463 rs112061946 6:35465831-35465831 6:35498054-35498054 LBR036 Leber Plus Disease CEP290 NM_025114.4(CEP290):c.*19_*22del deletion Likely benign 261823 rs142288119 12:88442939-88442942 12:88049162-88049165 LBR036 Leber Plus Disease KCNJ13 NM_002242.4(KCNJ13):c.-72_-71delCT short repeat Likely benign 335058 rs5839447 2:233641209-233641210 2:232776499-232776500 LBR036 Leber Plus Disease LRAT NM_004744.5(LRAT):c.*1338T>G SNV Benign/Likely benign 347865 rs12507608 4:155671626-155671626 4:154750474-154750474 LBR036 Leber Plus Disease USH2A NM_206933.4(USH2A):c.4758+3A>G SNV Benign/Likely benign 156396 rs117798425 1:216270422-216270422 1:216097080-216097080 LBR036 Leber Plus Disease CRB1 NM_201253.3(CRB1):c.4005+4AGC[3] short repeat Benign/Likely benign 294691 rs550852869 1:197411425-197411426 1:197442295-197442296 LBR036 Leber Plus Disease LRAT NM_004744.5(LRAT):c.342G>A (p.Glu114=) SNV Benign/Likely benign 99788 rs17031981 4:155665820-155665820 4:154744668-154744668 LBR036 Leber Plus Disease LRAT NM_004744.5(LRAT):c.*2670G>T SNV Benign/Likely benign 347879 rs17032000 4:155672958-155672958 4:154751806-154751806 LBR036 Leber Plus Disease LRAT NM_004744.5(LRAT):c.*3618G>A SNV Benign/Likely benign 347885 rs17032002 4:155673906-155673906 4:154752754-154752754 LBR036 Leber Plus Disease CRX NM_000554.5(CRX):c.-116T>C SNV Benign 329690 rs10418215 19:48325187-48325187 19:47821930-47821930 LBR036 Leber Plus Disease CRX NM_000554.6(CRX):c.*1900del deletion Benign 329748 rs796977583 19:48345115-48345115 19:47841858-47841858 LBR036 Leber Plus Disease CRX NM_000554.6(CRX):c.*308_*310AAG[2] short repeat Benign 329706 rs398059782 19:48343532-48343534 19:47840275-47840277 LBR036 Leber Plus Disease CEP290 NM_025114.4(CEP290):c.6522+5dup duplication Benign 166828 rs11405846 12:88454594-88454595 12:88060817-88060818 LBR036 Leber Plus Disease CEP290 NM_025114.4(CEP290):c.853-12_853-11insG insertion Benign 166839 rs71082425 12:88522823-88522824 12:88129046-88129047 LBR036 Leber Plus Disease FSCN2 NM_012418.4(FSCN2):c.72del (p.Thr25fs) deletion Benign 2945 rs376633374 17:79495629-79495629 17:81528603-81528603 LBR036 Leber Plus Disease CEP290 NM_025114.4(CEP290):c.3574-9del deletion Benign 96170 rs10717563 12:88483273-88483273 12:88089496-88089496 LBR036 Leber Plus Disease RD3 NM_183059.2(RD3):c.-204_-203insC insertion Benign 295267 rs11463656 1:211665298-211665299 1:211491956-211491957 LBR036 Leber Plus Disease TTN NM_001267550.2(TTN):c.20836+1G>A SNV Pathogenic 523428 rs1553915256 2:179590094-179590094 2:178725367-178725367 LFT003 Left Ventricular Noncompaction TTN NM_001267550.2(TTN):c.47961del (p.Gly15988fs) deletion Pathogenic 523430 rs1553707780 2:179481655-179481655 2:178616928-178616928 LFT003 Left Ventricular Noncompaction NKX2-5 NM_004387.4(NKX2-5):c.711C>A (p.Tyr237Ter) SNV Pathogenic 523473 rs1554093433 5:172659836-172659836 5:173232833-173232833 LFT003 Left Ventricular Noncompaction MYH7 NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) SNV Pathogenic 132925 rs606231324 14:23897714-23897714 14:23428505-23428505 LFT003 Left Ventricular Noncompaction MYBPC3 NM_000256.3(MYBPC3):c.3190+5G>A SNV Pathogenic 155808 rs587782958 11:47355103-47355103 11:47333552-47333552 LFT003 Left Ventricular Noncompaction MYBPC3 NM_000256.3(MYBPC3):c.1038_1042dup (p.Met348fs) duplication Pathogenic 177698 rs730880336 11:47367806-47367810 11:47346254-47346255 LFT003 Left Ventricular Noncompaction MIPEP NM_005932.4(MIPEP):c.1804G>T (p.Glu602Ter) SNV Pathogenic 208631 rs114638163 13:24380133-24380133 13:23805994-23805994 LFT003 Left Ventricular Noncompaction PCOTH GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1 copy number loss Pathogenic 208634 13:23519916-24941516 LFT003 Left Ventricular Noncompaction SACS GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1 copy number loss Pathogenic 208634 13:23519916-24941516 LFT003 Left Ventricular Noncompaction SGCG GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1 copy number loss Pathogenic 208634 13:23519916-24941516 LFT003 Left Ventricular Noncompaction SPATA13 GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1 copy number loss Pathogenic 208634 13:23519916-24941516 LFT003 Left Ventricular Noncompaction TNFRSF19 GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1 copy number loss Pathogenic 208634 13:23519916-24941516 LFT003 Left Ventricular Noncompaction C1QTNF9 GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1 copy number loss Pathogenic 208634 13:23519916-24941516 LFT003 Left Ventricular Noncompaction C1QTNF9B GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1 copy number loss Pathogenic 208634 13:23519916-24941516 LFT003 Left Ventricular Noncompaction MIPEP GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1 copy number loss Pathogenic 208634 13:23519916-24941516 LFT003 Left Ventricular Noncompaction MYH7 NM_000257.4(MYH7):c.842G>C (p.Arg281Thr) SNV Pathogenic/Likely pathogenic 181327 rs730880856 14:23900163-23900163 14:23430954-23430954 LFT003 Left Ventricular Noncompaction MYBPC3 NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs) deletion Pathogenic/Likely pathogenic 164021 rs727503166 11:47353661-47353661 11:47332110-47332110 LFT003 Left Ventricular Noncompaction MYH7 NM_000257.4(MYH7):c.732+1G>A SNV Pathogenic/Likely pathogenic 14127 rs730880850 14:23900793-23900793 14:23431584-23431584 LFT003 Left Ventricular Noncompaction LMNA NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) SNV Pathogenic/Likely pathogenic 36473 rs386134243 1:156105758-156105758 1:156135967-156135967 LFT003 Left Ventricular Noncompaction MYH7 NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) SNV Likely pathogenic 42822 rs397516089 14:23899016-23899016 14:23429807-23429807 LFT003 Left Ventricular Noncompaction MYH7 NM_000257.4(MYH7):c.1000-1G>A SNV Likely pathogenic 637005 14:23899123-23899123 14:23429914-23429914 LFT003 Left Ventricular Noncompaction SCN5A NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) SNV risk factor 9393 rs7626962 3:38620907-38620907 3:38579416-38579416 LFT003 Left Ventricular Noncompaction ACTC1 NM_005159.5(ACTC1):c.866T>C (p.Ile289Thr) SNV Likely pathogenic 177886 rs727504379 15:35083439-35083439 15:34791238-34791238 LFT003 Left Ventricular Noncompaction VCL NM_014000.3(VCL):c.3115C>T (p.Gln1039Ter) SNV Likely pathogenic 166556 rs727503741 10:75874107-75874107 10:74114349-74114349 LFT003 Left Ventricular Noncompaction MYH7 NM_000257.4(MYH7):c.3748C>T (p.Arg1250Trp) SNV Likely pathogenic 164299 rs727503249 14:23888797-23888797 14:23419588-23419588 LFT003 Left Ventricular Noncompaction MYH7 NM_000257.4(MYH7):c.1157A>G (p.Tyr386Cys) SNV Likely pathogenic 164378 rs727503269 14:23898538-23898538 14:23429329-23429329 LFT003 Left Ventricular Noncompaction MYH7 NM_000257.4(MYH7):c.3658_3660del (p.Glu1220del) deletion Likely pathogenic 42968 rs397516190 14:23889120-23889122 14:23419911-23419913 LFT003 Left Ventricular Noncompaction ACTC1 NM_005159.5(ACTC1):c.806T>C (p.Ile269Thr) SNV Likely pathogenic 45190 rs397517071 15:35084293-35084293 15:34792092-34792092 LFT003 Left Ventricular Noncompaction DTNA NM_001390.4(DTNA):c.177A>G (p.Ile59Met) SNV Likely pathogenic 374197 rs1057518968 18:32374029-32374029 18:34794065-34794065 LFT003 Left Ventricular Noncompaction TGFB3 NM_003239.4(TGFB3):c.293C>T (p.Ser98Leu) SNV Conflicting interpretations of pathogenicity 192131 rs142047577 14:76446944-76446944 14:75980601-75980601 LFT003 Left Ventricular Noncompaction LMNA NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg) SNV Conflicting interpretations of pathogenicity 48045 rs201583907 1:156106982-156106982 1:156137191-156137191 LFT003 Left Ventricular Noncompaction RYR2 NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) SNV Conflicting interpretations of pathogenicity 165128 rs571985775 1:237949299-237949299 1:237785999-237785999 LFT003 Left Ventricular Noncompaction BAG3 NM_004281.4(BAG3):c.653G>A (p.Arg218Gln) SNV Conflicting interpretations of pathogenicity 179009 rs201638005 10:121431912-121431912 10:119672400-119672400 LFT003 Left Ventricular Noncompaction MYBPC3 NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) SNV Conflicting interpretations of pathogenicity 177902 rs573916965 11:47367848-47367848 11:47346297-47346297 LFT003 Left Ventricular Noncompaction MYBPC3 NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr) SNV Conflicting interpretations of pathogenicity 42711 rs370890951 11:47354463-47354463 11:47332912-47332912 LFT003 Left Ventricular Noncompaction JUP NM_002230.4(JUP):c.1507G>A (p.Gly503Ser) SNV Conflicting interpretations of pathogenicity 468745 rs376051686 17:39915113-39915113 17:41758861-41758861 LFT003 Left Ventricular Noncompaction TTN NM_001267550.2(TTN):c.92151T>C (p.Tyr30717=) SNV Conflicting interpretations of pathogenicity 511503 rs182422055 2:179414298-179414298 2:178549571-178549571 LFT003 Left Ventricular Noncompaction ANKRD1 NM_014391.2(ANKRD1):c.806G>A (p.Arg269Gln) SNV Uncertain significance 520516 rs367609929 10:92675343-92675343 10:90915586-90915586 LFT003 Left Ventricular Noncompaction RYR2 NM_001035.3(RYR2):c.13412G>C (p.Gly4471Ala) SNV Uncertain significance 488158 rs1553325274 1:237951371-237951371 1:237788071-237788071 LFT003 Left Ventricular Noncompaction PKP2 NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn) SNV Uncertain significance 403313 rs200947767 12:32949098-32949098 12:32796164-32796164 LFT003 Left Ventricular Noncompaction TAZ NM_000116.5(TAZ):c.680dup (p.Tyr227Ter) duplication Uncertain significance 446166 rs1557194203 X:153648583-153648584 X:154420244-154420245 LFT003 Left Ventricular Noncompaction MYH6 NM_002471.3(MYH6):c.3413G>A (p.Arg1138His) SNV Uncertain significance 470523 rs745801044 14:23859585-23859585 14:23390376-23390376 LFT003 Left Ventricular Noncompaction MYH7 NM_000257.4(MYH7):c.732+2T>G SNV Uncertain significance 454395 rs1555338658 14:23900792-23900792 14:23431583-23431583 LFT003 Left Ventricular Noncompaction DSP NM_004415.4(DSP):c.2894T>C (p.Leu965Pro) SNV Uncertain significance 642389 6:7578028-7578028 6:7577795-7577795 LFT003 Left Ventricular Noncompaction PKP2 NM_001005242.3(PKP2):c.1878C>A (p.Asn626Lys) SNV Uncertain significance 684846 12:32974425-32974425 12:32821491-32821491 LFT003 Left Ventricular Noncompaction MYH7 NM_000257.4(MYH7):c.803T>G (p.Leu268Arg) SNV Uncertain significance 684854 14:23900202-23900202 14:23430993-23430993 LFT003 Left Ventricular Noncompaction TPM1 NM_001018005.2(TPM1):c.797A>G (p.Lys266Arg) SNV Uncertain significance 178148 rs371934474 15:63356287-63356287 15:63064088-63064088 LFT003 Left Ventricular Noncompaction MYH6 NM_002471.4(MYH6):c.3383G>A (p.Arg1128His) SNV Uncertain significance 44482 rs376002621 14:23859615-23859615 14:23390406-23390406 LFT003 Left Ventricular Noncompaction MIPEP NM_005932.4(MIPEP):c.1745T>G (p.Leu582Arg) SNV Uncertain significance 208628 rs1057518739 13:24380192-24380192 13:23806053-23806053 LFT003 Left Ventricular Noncompaction MIPEP NM_005932.4(MIPEP):c.212T>A (p.Leu71Gln) SNV Uncertain significance 208629 rs1057518740 13:24460623-24460623 13:23886484-23886484 LFT003 Left Ventricular Noncompaction MIPEP NM_005932.4(MIPEP):c.916C>T (p.Leu306Phe) SNV Uncertain significance 208630 rs143912947 13:24443458-24443458 13:23869319-23869319 LFT003 Left Ventricular Noncompaction MIPEP NM_005932.4(MIPEP):c.1027A>G (p.Lys343Glu) SNV Uncertain significance 208632 rs1057518741 13:24436467-24436467 13:23862328-23862328 LFT003 Left Ventricular Noncompaction MIPEP NM_005932.4(MIPEP):c.1534C>G (p.His512Asp) SNV Uncertain significance 208633 rs779598020 13:24411700-24411700 13:23837561-23837561 LFT003 Left Ventricular Noncompaction JUP NM_002230.4(JUP):c.2105G>A (p.Arg702His) SNV Uncertain significance 178849 rs200690479 17:39912129-39912129 17:41755877-41755877 LFT003 Left Ventricular Noncompaction PCOTH GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1 copy number loss Likely benign 443112 13:23519916-24941516 LFT003 Left Ventricular Noncompaction SACS GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1 copy number loss Likely benign 443112 13:23519916-24941516 LFT003 Left Ventricular Noncompaction SGCG GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1 copy number loss Likely benign 443112 13:23519916-24941516 LFT003 Left Ventricular Noncompaction SPATA13 GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1 copy number loss Likely benign 443112 13:23519916-24941516 LFT003 Left Ventricular Noncompaction TNFRSF19 GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1 copy number loss Likely benign 443112 13:23519916-24941516 LFT003 Left Ventricular Noncompaction C1QTNF9 GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1 copy number loss Likely benign 443112 13:23519916-24941516 LFT003 Left Ventricular Noncompaction C1QTNF9B GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1 copy number loss Likely benign 443112 13:23519916-24941516 LFT003 Left Ventricular Noncompaction MIPEP GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1 copy number loss Likely benign 443112 13:23519916-24941516 LFT003 Left Ventricular Noncompaction HCN4 NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg) SNV Benign/Likely benign 137542 rs148398509 15:73615786-73615786 15:73323445-73323445 LFT003 Left Ventricular Noncompaction MYH7 NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) SNV Benign 42941 rs145532615 14:23892910-23892910 14:23423701-23423701 LFT003 Left Ventricular Noncompaction SURF1 NM_003172.4(SURF1):c.688C>T (p.Arg230Ter) SNV Pathogenic 280010 rs782623477 9:136219364-136219364 9:133352509-133352509 LGH007 Leigh Syndrome MRPS34 NM_023936.1(MRPS34):c.321+1G>T SNV Pathogenic 430586 rs1161932777 16:1822799-1822799 16:1772798-1772798 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.32_38dup (p.Leu16fs) duplication Pathogenic 456665 rs1410388157 9:136223291-136223292 9:133356415-133356416 LGH007 Leigh Syndrome NDUFS4 NM_002495.4(NDUFS4):c.178-2A>G SNV Pathogenic 488559 rs1554059248 5:52942061-52942061 5:53646231-53646231 LGH007 Leigh Syndrome NDUFS4 NM_002495.4(NDUFS4):c.470_471del (p.Lys156_Ser157insTer) deletion Pathogenic 488560 rs1554062427 5:52978993-52978994 5:53683163-53683164 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.752-1G>C SNV Pathogenic 488613 rs1391748504 9:136218998-136218998 9:133352143-133352143 LGH007 Leigh Syndrome NDUFS4 NM_002495.4(NDUFS4):c.99-1G>A SNV Pathogenic 496165 rs376281345 5:52899281-52899281 5:53603451-53603451 LGH007 Leigh Syndrome NDUFAF2 NM_174889.5(NDUFAF2):c.221G>A (p.Trp74Ter) SNV Pathogenic 496555 rs772294726 5:60394822-60394822 5:61098995-61098995 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.772C>T (p.Pro258Ser) SNV Pathogenic 520388 rs1053850536 9:136218977-136218977 9:133352122-133352122 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.465_466del (p.Thr156fs) deletion Pathogenic 520391 rs1564349176 9:136220653-136220654 9:133353798-133353799 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.833+1G>A SNV Pathogenic 599351 rs782609482 9:136218915-136218915 9:133352060-133352060 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.281dup (p.Leu94fs) duplication Pathogenic 643552 9:136221555-136221556 9:133354700-133354701 LGH007 Leigh Syndrome ATP6 NC_012920.1(MT-ATP6):m.9035T>C SNV Pathogenic 690280 MT:9035-9035 MT:9035-9035 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5001dup duplication Pathogenic 692533 MT:4997-4998 MT:4997-4998 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9032T>C SNV Pathogenic 693061 MT:9032-9032 MT:9032-9032 LGH007 Leigh Syndrome FASTKD2 NM_001136193.2(FASTKD2):c.810_820dup (p.Ser274fs) duplication Pathogenic 800307 2:207634845-207634846 2:206770121-206770122 LGH007 Leigh Syndrome FASTKD2 NM_001136193.2(FASTKD2):c.868C>T (p.Arg290Ter) SNV Pathogenic 800308 2:207634905-207634905 2:206770181-206770181 LGH007 Leigh Syndrome FASTKD2 NM_001136193.2(FASTKD2):c.1861del (p.Ser621fs) deletion Pathogenic 800306 2:207653588-207653588 2:206788864-206788864 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.236G>A (p.Trp79Ter) SNV Pathogenic 802529 9:136221683-136221683 9:133354828-133354828 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.11_27dup (p.Gly10fs) duplication Pathogenic 802530 9:136223302-136223303 9:133356426-133356427 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.1207dup (p.Asp403fs) duplication Pathogenic 802694 11:67379629-67379630 11:67612158-67612159 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.555_556del (p.Lys186fs) deletion Pathogenic 847821 9:136219581-136219582 9:133352726-133352727 LGH007 Leigh Syndrome BCS1L NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly) SNV Pathogenic 6167 rs28937590 2:219525942-219525942 2:218661219-218661219 LGH007 Leigh Syndrome BCS1L NM_001079866.2(BCS1L):c.548G>A (p.Arg183His) SNV Pathogenic 6170 rs121908577 2:219526569-219526569 2:218661846-218661846 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.649C>T (p.Arg217Trp) SNV Pathogenic 6175 rs28939711 10:101483814-101483814 10:99724057-99724057 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.1007A>T (p.Asp336Val) SNV Pathogenic 7525 rs104894557 17:14110205-14110205 17:14206888-14206888 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.1007A>G (p.Asp336Gly) SNV Pathogenic 7526 rs104894557 17:14110205-14110205 17:14206888-14206888 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.2T>C (p.Met1Thr) SNV Pathogenic 7527 rs387906383 17:13972924-13972924 17:14069607-14069607 LGH007 Leigh Syndrome TRNW m.5537_5538insT insertion Pathogenic 9555 rs199474672 MT:5537-5538 MT:5537-5538 LGH007 Leigh Syndrome TRNK m.8344A>G SNV Pathogenic 9579 rs118192098 MT:8344-8344 MT:8344-8344 LGH007 Leigh Syndrome TRNK m.8363G>A SNV Pathogenic 9581 rs118192100 MT:8363-8363 MT:8363-8363 LGH007 Leigh Syndrome TRNL1 NC_012920.1:m.3243A>G SNV Pathogenic 9589 rs199474657 MT:3243-3243 MT:3243-3243 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8993T>G SNV Pathogenic 9641 rs199476133 MT:8993-8993 MT:8993-8993 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8993T>C SNV Pathogenic 9642 rs199476133 MT:8993-8993 MT:8993-8993 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9176T>C SNV Pathogenic 9644 rs199476135 MT:9176-9176 MT:9176-9176 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9185T>C SNV Pathogenic 9647 rs199476138 MT:9185-9185 MT:9185-9185 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9176T>G SNV Pathogenic 9650 rs199476135 MT:9176-9176 MT:9176-9176 LGH007 Leigh Syndrome COX3 m.9537dupC duplication Pathogenic 9656 rs267606614 MT:9531-9532 MT:9531-9532 LGH007 Leigh Syndrome CYTB m.15242G>A SNV Pathogenic 9680 rs207459999 MT:15242-15242 MT:15242-15242 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14484T>C SNV Pathogenic 9688 rs199476104 MT:14484-14484 MT:14484-14484 LGH007 Leigh Syndrome ND6 m.14459G>A SNV Pathogenic 9689 rs199476105 MT:14459-14459 MT:14459-14459 LGH007 Leigh Syndrome ND6 m.14487T>C SNV Pathogenic 9694 rs199476109 MT:14487-14487 MT:14487-14487 LGH007 Leigh Syndrome ND5 m.13045A>C SNV Pathogenic 9700 rs267606895 MT:13045-13045 MT:13045-13045 LGH007 Leigh Syndrome ND5 m.13084A>T SNV Pathogenic 9701 rs267606896 MT:13084-13084 MT:13084-13084 LGH007 Leigh Syndrome ND5 m.13513G>A SNV Pathogenic 9702 rs267606897 MT:13513-13513 MT:13513-13513 LGH007 Leigh Syndrome ND5 m.13042G>A SNV Pathogenic 9703 rs267606898 MT:13042-13042 MT:13042-13042 LGH007 Leigh Syndrome ND3 m.10158T>C SNV Pathogenic 9714 rs199476117 MT:10158-10158 MT:10158-10158 LGH007 Leigh Syndrome ND3 m.10197G>A SNV Pathogenic 9715 rs267606891 MT:10197-10197 MT:10197-10197 LGH007 Leigh Syndrome ND4 m.11777C>A SNV Pathogenic 9711 rs28384199 MT:11777-11777 MT:11777-11777 LGH007 Leigh Syndrome ND3 m.10191T>C SNV Pathogenic 9712 rs267606890 MT:10191-10191 MT:10191-10191 LGH007 Leigh Syndrome ND2 m.4681T>C SNV Pathogenic 9721 rs267606889 MT:4681-4681 MT:4681-4681 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3460G>A SNV Pathogenic 9722 rs199476118 MT:3460-3460 MT:3460-3460 LGH007 Leigh Syndrome ND1 m.3946G>A SNV Pathogenic 9734 rs199476123 MT:3946-3946 MT:3946-3946 LGH007 Leigh Syndrome SURF1 SURF1, 765C-T SNV Pathogenic 12757 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.323+2T>C SNV Pathogenic 12758 9:136221512-136221512 9:133354657-133354657 LGH007 Leigh Syndrome SURF1 SURF1, 2-BP DEL, 855CT deletion Pathogenic 12760 LGH007 Leigh Syndrome SURF1 SURF1, 1-BP INS, 882T insertion Pathogenic 12761 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.751C>T (p.Gln251Ter) SNV Pathogenic 12762 rs121918657 9:136219301-136219301 9:133352446-133352446 LGH007 Leigh Syndrome SURF1 SURF1, 1-BP INS, 868T insertion Pathogenic 12763 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.515+2T>G SNV Pathogenic 12764 9:136220602-136220602 9:133353747-133353747 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.550_551del (p.Arg184fs) deletion Pathogenic 12765 9:136219586-136219587 9:133352731-133352732 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.820T>G (p.Tyr274Asp) SNV Pathogenic 12766 rs121918658 9:136218929-136218929 9:133352074-133352074 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.371G>A (p.Gly124Glu) SNV Pathogenic 12768 rs28933402 9:136220748-136220748 9:133353893-133353893 LGH007 Leigh Syndrome SURF1 SURF1, 4-BP INS, 572CCCT insertion Pathogenic 12769 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.841_842CT[2] (p.Ser282fs) short repeat Pathogenic 12770 rs782316919 9:136218825-136218826 9:133351970-133351971 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.679T>C (p.Trp227Arg) SNV Pathogenic 29897 rs398122806 9:136219373-136219373 9:133352518-133352518 LGH007 Leigh Syndrome MTFMT NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) SNV Pathogenic 39827 rs201431517 15:65313871-65313871 15:65021533-65021533 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9191T>C SNV Pathogenic 40153 rs1556423632 MT:9191-9191 MT:9191-9191 LGH007 Leigh Syndrome NDUFS4 NM_002495.4(NDUFS4):c.462del (p.Lys154fs) deletion Pathogenic 40257 rs587776949 5:52978982-52978982 5:53683152-53683152 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13514A>G SNV Pathogenic 155889 rs587776440 MT:13514-13514 MT:13514-13514 LGH007 Leigh Syndrome TRNV NC_012920.1:m.1644G>T SNV Pathogenic 155890 rs587776441 MT:1644-1644 MT:1644-1644 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8839G>C SNV Pathogenic 155892 rs1556423547 MT:8839-8839 MT:8839-8839 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3481G>A SNV Pathogenic 155880 rs587776433 MT:3481-3481 MT:3481-3481 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3890G>A SNV Pathogenic 155881 rs587776434 MT:3890-3890 MT:3890-3890 LGH007 Leigh Syndrome TRNW NC_012920.1:m.5523T>G SNV Pathogenic 155882 rs587776435 MT:5523-5523 MT:5523-5523 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8989G>C SNV Pathogenic 155893 rs587776444 MT:8989-8989 MT:8989-8989 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10134C>A SNV Pathogenic 156375 rs587780529 MT:10134-10134 MT:10134-10134 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9478T>C SNV Pathogenic 155885 rs587776437 MT:9478-9478 MT:9478-9478 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10254G>A SNV Pathogenic 155887 rs587776438 MT:10254-10254 MT:10254-10254 LGH007 Leigh Syndrome ECHS1 NM_004092.4(ECHS1):c.5C>T (p.Ala2Val) SNV Pathogenic 156434 rs587776498 10:135186833-135186833 10:133373329-133373329 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.790_791AG[1] (p.Arg264fs) short repeat Pathogenic 215238 rs782490558 9:136218956-136218957 9:133352101-133352102 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.574C>T (p.Arg192Trp) SNV Pathogenic 215235 rs782190413 9:136219563-136219563 9:133352708-133352708 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) indel Pathogenic 215237 rs863224228 9:136221516-136221525 9:133354661-133354670 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del) deletion Pathogenic 215241 rs863224229 9:136223317-136223340 9:133356441-133356464 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.756_757CA[1] (p.Thr253fs) short repeat Pathogenic/Likely pathogenic 372717 rs782349178 9:136218990-136218991 9:133352135-133352136 LGH007 Leigh Syndrome ECHS1 NM_004092.4(ECHS1):c.2T>G (p.Met1Arg) SNV Pathogenic/Likely pathogenic 156433 rs587776497 10:135186836-135186836 10:133373332-133373332 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.586C>T (p.Gln196Ter) SNV Pathogenic/Likely pathogenic 243077 rs147816470 9:136219551-136219551 9:133352696-133352696 LGH007 Leigh Syndrome BCS1L NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) SNV Pathogenic/Likely pathogenic 6169 rs121908576 2:219525876-219525876 2:218661153-218661153 LGH007 Leigh Syndrome NDUFAF2 NM_174889.5(NDUFAF2):c.139C>T (p.Arg47Ter) SNV Pathogenic/Likely pathogenic 1594 rs137852863 5:60368963-60368963 5:61073136-61073136 LGH007 Leigh Syndrome BCS1L NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu) SNV Pathogenic/Likely pathogenic 6164 rs121908572 2:219526006-219526006 2:218661283-218661283 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.631_632del (p.Glu211fs) deletion Pathogenic/Likely pathogenic 496203 rs1554768333 9:136219420-136219421 9:133352565-133352566 LGH007 Leigh Syndrome SURF1 NM_003172.3(SURF1):c.754_755delAG (p.Ser252Hisfs) short repeat Likely pathogenic 365526 rs782007828 9:136218994-136218995 9:133352139-133352140 LGH007 Leigh Syndrome NDUFS8 NM_002496.4(NDUFS8):c.441G>C (p.Met147Ile) SNV Likely pathogenic 488561 rs1267554976 11:67803788-67803788 11:68036321-68036321 LGH007 Leigh Syndrome MRPS34 NM_023936.2(MRPS34):c.37G>A (p.Glu13Lys) SNV Likely pathogenic 430585 rs1131692037 16:1823084-1823084 16:1773083-1773083 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.759dup (p.Val254fs) duplication Likely pathogenic 456666 rs1554768246 9:136218989-136218990 9:133352134-133352135 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.504C>A (p.Cys168Ter) SNV Likely pathogenic 635073 rs1564349087 9:136220615-136220615 9:133353760-133353760 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.794_795dup (p.Thr266fs) duplication Likely pathogenic 638325 9:136218953-136218954 9:133352098-133352099 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11621_11622del deletion Likely pathogenic 693373 MT:11620-11621 MT:11620-11621 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13063G>A SNV Likely pathogenic 693513 MT:13063-13063 MT:13063-13063 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4611del deletion Likely pathogenic 692466 MT:4605-4605 MT:4605-4605 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6526T>C SNV Likely pathogenic 692657 MT:6526-6526 MT:6526-6526 LGH007 Leigh Syndrome NDUFS8 NM_002496.4(NDUFS8):c.236C>T (p.Pro79Leu) SNV Likely pathogenic 7511 rs28939679 11:67800614-67800614 11:68033147-68033147 LGH007 Leigh Syndrome ND6 m.14453G>A SNV Likely pathogenic 9692 rs199476107 MT:14453-14453 MT:14453-14453 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8851T>C SNV Likely pathogenic 9645 rs199476136 MT:8851-8851 MT:8851-8851 LGH007 Leigh Syndrome TRNV m.1624C>T SNV Likely pathogenic 9549 rs199476144 MT:1624-1624 MT:1624-1624 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.1030T>C (p.Ser344Pro) SNV Likely pathogenic 40258 rs397514662 10:101476176-101476176 10:99716419-99716419 LGH007 Leigh Syndrome ND5 m.12706T>C SNV Likely pathogenic 9698 rs267606893 MT:12706-12706 MT:12706-12706 LGH007 Leigh Syndrome NDUFS8 NM_002496.4(NDUFS8):c.343A>G (p.Lys115Glu) SNV Likely pathogenic 216970 rs764276946 11:67800721-67800721 11:68033254-68033254 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.106+1G>C SNV Likely pathogenic 217008 rs863224926 9:136223123-136223123 9:133356268-133356268 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.518T>G (p.Met173Arg) SNV Likely pathogenic 801859 2:207012288-207012288 2:206147564-206147564 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.1129G>T (p.Glu377Ter) SNV Likely pathogenic 802693 11:67379416-67379416 11:67611945-67611945 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.1393-7_1393-3del deletion Likely pathogenic 801855 2:206997832-206997836 2:206133108-206133112 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.1256G>A (p.Arg419Gln) SNV Likely pathogenic 801856 2:207006671-207006671 2:206141947-206141947 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9049G>A SNV Likely pathogenic 693064 MT:9049-9049 MT:9049-9049 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9134A>G SNV Likely pathogenic 693105 MT:9134-9134 MT:9134-9134 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8783G>A SNV Likely pathogenic 692983 MT:8783-8783 MT:8783-8783 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*470G>A SNV Conflicting interpretations of pathogenicity 358578 rs111619940 7:107560174-107560174 7:107919729-107919729 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.211G>C (p.Val71Leu) SNV Conflicting interpretations of pathogenicity 365530 rs147993882 9:136221708-136221708 9:133354853-133354853 LGH007 Leigh Syndrome NDUFS8 NM_002496.4(NDUFS8):c.299C>T (p.Ala100Val) SNV Conflicting interpretations of pathogenicity 305767 rs748754134 11:67800677-67800677 11:68033210-68033210 LGH007 Leigh Syndrome NDUFS3 NM_004551.3(NDUFS3):c.783T>C (p.Pro261=) SNV Conflicting interpretations of pathogenicity 304999 rs117981655 11:47606021-47606021 11:47584469-47584469 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.366G>A (p.Pro122=) SNV Conflicting interpretations of pathogenicity 305744 rs140445386 11:67376962-67376962 11:67609491-67609491 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.819C>T (p.Thr273=) SNV Conflicting interpretations of pathogenicity 305749 rs150859374 11:67378584-67378584 11:67611113-67611113 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.843T>C (p.His281=) SNV Conflicting interpretations of pathogenicity 305750 rs766555879 11:67378608-67378608 11:67611137-67611137 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.1075C>T (p.Arg359Cys) SNV Conflicting interpretations of pathogenicity 305753 rs142499054 11:67379035-67379035 11:67611564-67611564 LGH007 Leigh Syndrome NDUFS8 NM_002496.4(NDUFS8):c.459C>T (p.Cys153=) SNV Conflicting interpretations of pathogenicity 305768 rs149201273 11:67803806-67803806 11:68036339-68036339 LGH007 Leigh Syndrome NDUFS8 NM_002496.4(NDUFS8):c.502-10C>T SNV Conflicting interpretations of pathogenicity 305771 rs369961682 11:67803919-67803919 11:68036452-68036452 LGH007 Leigh Syndrome NDUFS8 NM_002496.4(NDUFS8):c.597C>T (p.Ile199=) SNV Conflicting interpretations of pathogenicity 305772 rs1804688 11:67804024-67804024 11:68036557-68036557 LGH007 Leigh Syndrome NDUFS8 NM_002496.4(NDUFS8):c.*40A>G SNV Conflicting interpretations of pathogenicity 305776 rs61329983 11:67804100-67804100 11:68036633-68036633 LGH007 Leigh Syndrome TCIRG1 NM_002496.4(NDUFS8):c.*40A>G SNV Conflicting interpretations of pathogenicity 305776 rs61329983 11:67804100-67804100 11:68036633-68036633 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.582+14A>G SNV Conflicting interpretations of pathogenicity 298416 rs79410539 10:101486711-101486711 10:99726954-99726954 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.1309-9C>T SNV Conflicting interpretations of pathogenicity 305756 rs374581520 11:67379834-67379834 11:67612363-67612363 LGH007 Leigh Syndrome NDUFS8 NM_002496.4(NDUFS8):c.502-13C>T SNV Conflicting interpretations of pathogenicity 305770 rs199793417 11:67803916-67803916 11:68036449-68036449 LGH007 Leigh Syndrome NDUFS3 NM_004551.3(NDUFS3):c.91T>C (p.Leu31=) SNV Conflicting interpretations of pathogenicity 304993 rs770306617 11:47600844-47600844 11:47579292-47579292 LGH007 Leigh Syndrome BCS1L NM_001079866.2(BCS1L):c.201C>T (p.Leu67=) SNV Conflicting interpretations of pathogenicity 290322 rs142540289 2:219525911-219525911 2:218661188-218661188 LGH007 Leigh Syndrome BCS1L NM_001079866.2(BCS1L):c.258T>C (p.His86=) SNV Conflicting interpretations of pathogenicity 334357 rs886055627 2:219525968-219525968 2:218661245-218661245 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.549T>C (p.Cys183=) SNV Conflicting interpretations of pathogenicity 335202 rs149783296 2:240954276-240954276 2:240014859-240014859 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*647C>T SNV Conflicting interpretations of pathogenicity 335188 rs116254382 2:240899888-240899888 2:239960471-239960471 LGH007 Leigh Syndrome BCS1L NM_001079866.2(BCS1L):c.-14G>A SNV Conflicting interpretations of pathogenicity 334355 rs367721351 2:219525697-219525697 2:218660974-218660974 LGH007 Leigh Syndrome BCS1L NM_001079866.2(BCS1L):c.768C>G (p.Leu256=) SNV Conflicting interpretations of pathogenicity 334359 rs781666793 2:219527281-219527281 2:218662558-218662558 LGH007 Leigh Syndrome BCS1L NM_001079866.2(BCS1L):c.822G>A (p.Pro274=) SNV Conflicting interpretations of pathogenicity 334360 rs112329020 2:219527335-219527335 2:218662612-218662612 LGH007 Leigh Syndrome LRPPRC NM_133259.4(LRPPRC):c.1156-13dup duplication Conflicting interpretations of pathogenicity 336169 rs747766605 2:44201046-44201047 2:43973907-43973908 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.723C>T (p.Asp241=) SNV Conflicting interpretations of pathogenicity 353203 rs146653693 5:228401-228401 5:228286-228286 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1909-12_1909-11del short repeat Conflicting interpretations of pathogenicity 353206 rs372662724 5:256435-256436 5:256320-256321 LGH007 Leigh Syndrome NDUFS4 NM_002495.4(NDUFS4):c.351-11_351-8del deletion Conflicting interpretations of pathogenicity 353890 rs375549253 5:52954367-52954370 5:53658537-53658540 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*1736T>C SNV Conflicting interpretations of pathogenicity 358591 rs190655078 7:107561440-107561440 7:107920995-107920995 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.-1C>T SNV Conflicting interpretations of pathogenicity 353200 rs560932680 5:218470-218470 5:218355-218355 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1580G>A (p.Arg527His) SNV Conflicting interpretations of pathogenicity 353205 rs766352407 5:251135-251135 5:251020-251020 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.*133G>C SNV Conflicting interpretations of pathogenicity 353208 rs193112615 5:256668-256668 5:256553-256553 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14598T>C SNV Conflicting interpretations of pathogenicity 374080 rs1057518882 MT:14598-14598 MT:14598-14598 LGH007 Leigh Syndrome ATP6 NC_012920.1(MT-ATP6):m.9091A>G SNV Conflicting interpretations of pathogenicity 376876 rs1057520079 MT:9091-9091 MT:9091-9091 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.155+12C>T SNV Conflicting interpretations of pathogenicity 380989 rs199963966 11:67375961-67375961 11:67608490-67608490 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.831C>T (p.Asn277=) SNV Conflicting interpretations of pathogenicity 380653 rs139299777 11:67378596-67378596 11:67611125-67611125 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.1269G>A (p.Thr423=) SNV Conflicting interpretations of pathogenicity 388880 rs147719815 11:67379697-67379697 11:67612226-67612226 LGH007 Leigh Syndrome NDUFS8 NM_002496.4(NDUFS8):c.255G>A (p.Pro85=) SNV Conflicting interpretations of pathogenicity 378258 rs144125742 11:67800633-67800633 11:68033166-68033166 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.93C>A (p.Asp31Glu) SNV Conflicting interpretations of pathogenicity 377746 rs141481210 17:13977689-13977689 17:14074372-14074372 LGH007 Leigh Syndrome CYTB NC_012920.1(MT-CYB):m.15848A>G SNV Conflicting interpretations of pathogenicity 377369 rs1057520206 MT:15848-15848 MT:15848-15848 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.611T>C (p.Met204Thr) SNV Conflicting interpretations of pathogenicity 378251 rs148544177 2:207011753-207011753 2:206147029-206147029 LGH007 Leigh Syndrome BCS1L NM_001079866.2(BCS1L):c.171C>T (p.Asp57=) SNV Conflicting interpretations of pathogenicity 380986 rs756932413 2:219525881-219525881 2:218661158-218661158 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.1062C>T (p.Leu354=) SNV Conflicting interpretations of pathogenicity 378252 rs112026097 2:207007481-207007481 2:206142757-206142757 LGH007 Leigh Syndrome BCS1L NM_001079866.2(BCS1L):c.771G>A (p.Thr257=) SNV Conflicting interpretations of pathogenicity 384871 rs148302981 2:219527284-219527284 2:218662561-218662561 LGH007 Leigh Syndrome NDUFS4 NM_002495.4(NDUFS4):c.150A>G (p.Thr50=) SNV Conflicting interpretations of pathogenicity 385428 rs142368721 5:52899333-52899333 5:53603503-53603503 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.321A>G (p.Ala107=) SNV Conflicting interpretations of pathogenicity 382483 rs138398782 7:107543976-107543976 7:107903531-107903531 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.895+13G>A SNV Conflicting interpretations of pathogenicity 390626 rs201461936 5:231128-231128 5:231013-231013 LGH007 Leigh Syndrome ND1 NC_012920.1(MT-ND1):m.4132G>A SNV Conflicting interpretations of pathogenicity 377340 rs1057520201 MT:4132-4132 MT:4132-4132 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.205C>T (p.Leu69=) SNV Conflicting interpretations of pathogenicity 305740 rs199543483 11:67376072-67376072 11:67608601-67608601 LGH007 Leigh Syndrome NDUFS7 NM_024407.5(NDUFS7):c.270C>T (p.Ala90=) SNV Conflicting interpretations of pathogenicity 328337 rs375120743 19:1390911-1390911 19:1390912-1390912 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*646C>G SNV Conflicting interpretations of pathogenicity 321832 rs7214082 17:14111176-14111176 17:14207859-14207859 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.624+4A>G SNV Conflicting interpretations of pathogenicity 321815 rs199668725 17:14005563-14005563 17:14102246-14102246 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.909C>T (p.Ala303=) SNV Conflicting interpretations of pathogenicity 321816 rs370260574 17:14095519-14095519 17:14192202-14192202 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.-24G>A SNV Conflicting interpretations of pathogenicity 321809 rs201257809 17:13972899-13972899 17:14069582-14069582 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.-7A>C SNV Conflicting interpretations of pathogenicity 371942 rs751633537 5:218464-218464 5:218349-218349 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln) SNV Conflicting interpretations of pathogenicity 371975 rs199844384 5:233751-233751 5:233636-233636 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7724A>T SNV Conflicting interpretations of pathogenicity 692767 MT:7724-7724 MT:7724-7724 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7746A>G SNV Conflicting interpretations of pathogenicity 692768 MT:7746-7746 MT:7746-7746 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys) SNV Conflicting interpretations of pathogenicity 802692 11:67378531-67378531 11:67611060-67611060 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.375G>A (p.Glu125=) SNV Conflicting interpretations of pathogenicity 751771 7:107545440-107545440 7:107904995-107904995 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1177G>A (p.Val393Met) SNV Conflicting interpretations of pathogenicity 818500 5:235371-235371 5:235256-235256 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.321C>T (p.Ala107=) SNV Conflicting interpretations of pathogenicity 704468 9:136221516-136221516 9:133354661-133354661 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1977A>G (p.Pro659=) SNV Conflicting interpretations of pathogenicity 715129 5:256517-256517 5:256402-256402 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.597C>T (p.Arg199=) SNV Conflicting interpretations of pathogenicity 724429 11:67377938-67377938 11:67610467-67610467 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.579G>T (p.Leu193=) SNV Conflicting interpretations of pathogenicity 731415 17:10595265-10595265 17:10691948-10691948 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.260C>T (p.Thr87Ile) SNV Conflicting interpretations of pathogenicity 725217 17:13980134-13980134 17:14076817-14076817 LGH007 Leigh Syndrome NDUFS4 NM_002495.4(NDUFS4):c.360C>G (p.Pro120=) SNV Conflicting interpretations of pathogenicity 736038 5:52954390-52954390 5:53658560-53658560 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.432G>T (p.Val144=) SNV Conflicting interpretations of pathogenicity 748271 11:67377028-67377028 11:67609557-67609557 LGH007 Leigh Syndrome NDUFS8 NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr) SNV Conflicting interpretations of pathogenicity 746925 11:67799637-67799637 11:68032170-68032170 LGH007 Leigh Syndrome NDUFV1 NC_000011.10:g.67606931T>C SNV Conflicting interpretations of pathogenicity 877316 11:67374402-67374402 11:67606931-67606931 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.164G>A (p.Arg55Lys) SNV Conflicting interpretations of pathogenicity 214255 rs777532861 10:101489418-101489418 10:99729661-99729661 LGH007 Leigh Syndrome FOXRED1 NM_017547.4(FOXRED1):c.1171T>G (p.Leu391Val) SNV Conflicting interpretations of pathogenicity 214451 rs138061928 11:126147035-126147035 11:126277140-126277140 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.830C>T (p.Thr277Met) SNV Conflicting interpretations of pathogenicity 222817 rs367721665 5:231050-231050 5:230935-230935 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.133G>A (p.Ala45Thr) SNV Conflicting interpretations of pathogenicity 224947 rs140736646 5:223666-223666 5:223551-223551 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1368G>A (p.Ser456=) SNV Conflicting interpretations of pathogenicity 224948 rs149875171 5:236650-236650 5:236535-236535 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.17G>A (p.Gly6Asp) SNV Conflicting interpretations of pathogenicity 224952 rs187964306 5:218487-218487 5:218372-218372 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.822C>T (p.Gly274=) SNV Conflicting interpretations of pathogenicity 224953 rs34771391 5:231042-231042 5:230927-230927 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1305G>T (p.Leu435=) SNV Conflicting interpretations of pathogenicity 224954 rs35964044 5:236587-236587 5:236472-236472 LGH007 Leigh Syndrome NDUFS7 NM_024407.5(NDUFS7):c.*16C>T SNV Conflicting interpretations of pathogenicity 214826 rs573586959 19:1395503-1395503 19:1395504-1395504 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1413C>T (p.Ile471=) SNV Conflicting interpretations of pathogenicity 224956 rs34779890 5:236695-236695 5:236580-236580 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.409C>T (p.Arg137Trp) SNV Conflicting interpretations of pathogenicity 215233 rs373551988 9:136220710-136220710 9:133353855-133353855 LGH007 Leigh Syndrome NDUFS8 NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys) SNV Conflicting interpretations of pathogenicity 214836 rs150278938 11:67799622-67799622 11:68032155-68032155 LGH007 Leigh Syndrome NDUFS8 NM_002496.4(NDUFS8):c.64C>T (p.Pro22Ser) SNV Conflicting interpretations of pathogenicity 214835 rs369602258 11:67799758-67799758 11:68032291-68032291 LGH007 Leigh Syndrome NDUFS3 NM_004551.3(NDUFS3):c.79C>T (p.Pro27Ser) SNV Conflicting interpretations of pathogenicity 214803 rs368907187 11:47600832-47600832 11:47579280-47579280 LGH007 Leigh Syndrome NDUFS3 NM_004551.3(NDUFS3):c.123C>T (p.Ala41=) SNV Conflicting interpretations of pathogenicity 214804 rs141187412 11:47600876-47600876 11:47579324-47579324 LGH007 Leigh Syndrome NDUFS3 NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu) SNV Conflicting interpretations of pathogenicity 214802 rs148331180 11:47603733-47603733 11:47582181-47582181 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.-45T>G SNV Conflicting interpretations of pathogenicity 214846 rs373940385 11:67374431-67374431 11:67606960-67606960 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.150C>T (p.Asp50=) SNV Conflicting interpretations of pathogenicity 214842 rs11540012 11:67375944-67375944 11:67608473-67608473 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.700+12C>T SNV Conflicting interpretations of pathogenicity 214843 rs200417926 11:67378053-67378053 11:67610582-67610582 LGH007 Leigh Syndrome IARS2 NM_018060.4(IARS2):c.1821G>A (p.Trp607Ter) SNV Conflicting interpretations of pathogenicity 156551 rs373436822 1:220300169-220300169 1:220126827-220126827 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) SNV Conflicting interpretations of pathogenicity 160358 rs200397144 5:251542-251542 5:251427-251427 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.763A>C (p.Met255Leu) SNV Conflicting interpretations of pathogenicity 203680 rs533405046 7:107556029-107556029 7:107915584-107915584 LGH007 Leigh Syndrome BCS1L NM_001079866.2(BCS1L):c.-43G>A SNV Conflicting interpretations of pathogenicity 214155 rs145989550 2:219525668-219525668 2:218660945-218660945 LGH007 Leigh Syndrome BCS1L NM_001079866.2(BCS1L):c.126A>G (p.Ala42=) SNV Conflicting interpretations of pathogenicity 214156 rs144200704 2:219525836-219525836 2:218661113-218661113 LGH007 Leigh Syndrome BCS1L NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile) SNV Conflicting interpretations of pathogenicity 214159 rs148278887 2:219526634-219526634 2:218661911-218661911 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.1000-3C>G SNV Conflicting interpretations of pathogenicity 214705 rs199648872 2:240900606-240900606 2:239961189-239961189 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.745A>G (p.Asn249Asp) SNV Conflicting interpretations of pathogenicity 215226 rs587669420 9:136219307-136219307 9:133352452-133352452 LGH007 Leigh Syndrome NDUFAF2 NM_174889.5(NDUFAF2):c.131A>C (p.Gln44Pro) SNV Conflicting interpretations of pathogenicity 214740 rs775605330 5:60368955-60368955 5:61073128-61073128 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.813_818dup (p.His271_Leu272dup) duplication Conflicting interpretations of pathogenicity 215239 rs782488388 9:136218930-136218931 9:133352075-133352076 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14597A>G SNV Conflicting interpretations of pathogenicity 209173 rs797045055 MT:14597-14597 MT:14597-14597 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.404T>C (p.Leu135Ser) SNV Conflicting interpretations of pathogenicity 214708 rs140776586 2:240960670-240960670 2:240021253-240021253 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.-38T>G SNV Conflicting interpretations of pathogenicity 214699 rs374970309 2:240964756-240964756 2:240025339-240025339 LGH007 Leigh Syndrome LRPPRC NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr) SNV Conflicting interpretations of pathogenicity 214614 rs200686732 2:44223080-44223080 2:43995941-43995941 LGH007 Leigh Syndrome NDUFS4 NM_002495.4(NDUFS4):c.-6A>T SNV Conflicting interpretations of pathogenicity 214809 rs73754255 5:52856487-52856487 5:53560657-53560657 LGH007 Leigh Syndrome NDUFS4 NM_002495.4(NDUFS4):c.10G>C (p.Val4Leu) SNV Conflicting interpretations of pathogenicity 214810 rs185711494 5:52856502-52856502 5:53560672-53560672 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) SNV Conflicting interpretations of pathogenicity 142601 rs142441643 5:223624-223624 5:223509-223509 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.72+15G>T SNV Conflicting interpretations of pathogenicity 138504 rs187400726 11:67374562-67374562 11:67607091-67607091 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.604G>C (p.Asp202His) SNV Conflicting interpretations of pathogenicity 139375 rs72619327 9:136219448-136219448 9:133352593-133352593 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.54+10G>A SNV Conflicting interpretations of pathogenicity 139379 rs587598397 9:136223266-136223266 9:133356390-133356390 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.969C>T (p.Gly323=) SNV Conflicting interpretations of pathogenicity 141242 rs142849100 5:233665-233665 5:233550-233550 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.682C>T (p.Arg228Cys) SNV Conflicting interpretations of pathogenicity 137010 rs114521946 17:14063251-14063251 17:14159934-14159934 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.-23G>T SNV Conflicting interpretations of pathogenicity 137011 rs2231678 10:101491829-101491829 10:99732072-99732072 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.988-8C>A SNV Conflicting interpretations of pathogenicity 137013 rs542092025 10:101476226-101476226 10:99716469-99716469 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.543A>T (p.Ile181=) SNV Conflicting interpretations of pathogenicity 137095 rs61749952 7:107545910-107545910 7:107905465-107905465 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.548-9A>G SNV Conflicting interpretations of pathogenicity 138436 rs147876332 2:240954286-240954286 2:240014869-240014869 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.421-7A>G SNV Conflicting interpretations of pathogenicity 138474 rs192949406 2:207012392-207012392 2:206147668-206147668 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) SNV Conflicting interpretations of pathogenicity 138479 rs78042826 2:207003310-207003310 2:206138586-206138586 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=) SNV Conflicting interpretations of pathogenicity 138480 rs2230892 2:207003230-207003230 2:206138506-206138506 LGH007 Leigh Syndrome NDUFS3 NM_004551.3(NDUFS3):c.591T>C (p.Pro197=) SNV Conflicting interpretations of pathogenicity 138490 rs77113494 11:47603984-47603984 11:47582432-47582432 LGH007 Leigh Syndrome NDUFS3 NM_004551.3(NDUFS3):c.628-7C>T SNV Conflicting interpretations of pathogenicity 138491 rs11039306 11:47605859-47605859 11:47584307-47584307 LGH007 Leigh Syndrome NDUFS4 NM_002495.4(NDUFS4):c.102G>A (p.Ser34=) SNV Conflicting interpretations of pathogenicity 138492 rs138941073 5:52899285-52899285 5:53603455-53603455 LGH007 Leigh Syndrome NDUFS7 NM_024407.5(NDUFS7):c.153C>T (p.Ala51=) SNV Conflicting interpretations of pathogenicity 138497 rs140236960 19:1388862-1388862 19:1388863-1388863 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.16C>G (p.Leu6Val) SNV Conflicting interpretations of pathogenicity 139078 rs61753148 17:10600809-10600809 17:10697492-10697492 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly) SNV Conflicting interpretations of pathogenicity 252908 rs372480044 5:256459-256459 5:256344-256344 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.549C>T (p.Gly183=) SNV Conflicting interpretations of pathogenicity 252909 rs61733344 5:226090-226090 5:225975-225975 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.991G>A (p.Ala331Thr) SNV Conflicting interpretations of pathogenicity 252912 rs200526913 5:233687-233687 5:233572-233572 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu) SNV Conflicting interpretations of pathogenicity 231183 rs377632619 5:256513-256513 5:256398-256398 LGH007 Leigh Syndrome ATP6 NC_012920.1(MT-ATP6):m.8704A>G SNV Conflicting interpretations of pathogenicity 235260 rs878852994 MT:8704-8704 MT:8704-8704 LGH007 Leigh Syndrome ATP6 NC_012920.1(MT-ATP6):m.8803A>T SNV Conflicting interpretations of pathogenicity 235370 rs878853020 MT:8803-8803 MT:8803-8803 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9152T>C SNV Conflicting interpretations of pathogenicity 235698 rs878853096 MT:9152-9152 MT:9152-9152 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.441C>T (p.Pro147=) SNV Conflicting interpretations of pathogenicity 239664 rs201453889 5:225662-225662 5:225547-225547 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.442G>A (p.Ala148Thr) SNV Conflicting interpretations of pathogenicity 239668 rs375576259 5:225663-225663 5:225548-225548 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.777C>T (p.Tyr259=) SNV Conflicting interpretations of pathogenicity 239683 rs140243793 5:230997-230997 5:230882-230882 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln) SNV Conflicting interpretations of pathogenicity 239655 rs376391115 5:251216-251216 5:251101-251101 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly) SNV Conflicting interpretations of pathogenicity 239660 rs191412461 5:256519-256519 5:256404-256404 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1002G>A (p.Ala334=) SNV Conflicting interpretations of pathogenicity 252904 rs144252500 5:233698-233698 5:233583-233583 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1623G>A (p.Lys541=) SNV Conflicting interpretations of pathogenicity 252905 rs35502109 5:251178-251178 5:251063-251063 LGH007 Leigh Syndrome ND1 m.3394T>C SNV Conflicting interpretations of pathogenicity 9725 rs41460449 MT:3394-3394 MT:3394-3394 LGH007 Leigh Syndrome ND5 m.12811T>C SNV Conflicting interpretations of pathogenicity 65510 rs199974018 MT:12811-12811 MT:12811-12811 LGH007 Leigh Syndrome FOXRED1 NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) duplication Conflicting interpretations of pathogenicity 95754 rs398124308 11:126144895-126144896 11:126275000-126275001 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.929-7C>T SNV Conflicting interpretations of pathogenicity 136999 rs62052075 17:14110120-14110120 17:14206803-14206803 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.981C>T (p.Asn327=) SNV Conflicting interpretations of pathogenicity 137000 rs146175179 17:14110179-14110179 17:14206862-14206862 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.1096G>T (p.Val366Leu) SNV Conflicting interpretations of pathogenicity 137002 rs111541535 17:14110294-14110294 17:14206977-14206977 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.302C>T (p.Pro101Leu) SNV Conflicting interpretations of pathogenicity 137008 rs145948285 17:13980176-13980176 17:14076859-14076859 LGH007 Leigh Syndrome COX3 m.9804G>A SNV Conflicting interpretations of pathogenicity 9652 rs200613617 MT:9804-9804 MT:9804-9804 LGH007 Leigh Syndrome BCS1L NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys) SNV Conflicting interpretations of pathogenicity 6171 rs121908578 2:219526571-219526571 2:218661848-218661848 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp) SNV Conflicting interpretations of pathogenicity 8742 rs9809219 5:251215-251215 5:251100-251100 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*428C>T SNV Conflicting interpretations of pathogenicity 898689 2:240900107-240900107 2:239960690-239960690 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*1640A>G SNV Conflicting interpretations of pathogenicity 911751 7:107561344-107561344 7:107920899-107920899 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*1876G>A SNV Conflicting interpretations of pathogenicity 909641 7:107561580-107561580 7:107921135-107921135 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*1267A>G SNV Conflicting interpretations of pathogenicity 888725 17:14111797-14111797 17:14208480-14208480 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*1383G>A SNV Conflicting interpretations of pathogenicity 890428 17:14111913-14111913 17:14208596-14208596 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*904C>G SNV Conflicting interpretations of pathogenicity 890935 17:14111434-14111434 17:14208117-14208117 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*1079G>A SNV Conflicting interpretations of pathogenicity 888723 17:14111609-14111609 17:14208292-14208292 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.*426T>G SNV Conflicting interpretations of pathogenicity 896190 2:206988483-206988483 2:206123759-206123759 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.*341A>G SNV Conflicting interpretations of pathogenicity 897792 2:206988568-206988568 2:206123844-206123844 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.-76G>A SNV Conflicting interpretations of pathogenicity 898014 2:207024136-207024136 2:206159412-206159412 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.-64T>C SNV Conflicting interpretations of pathogenicity 896385 2:207024124-207024124 2:206159400-206159400 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*2133A>G SNV Conflicting interpretations of pathogenicity 896838 2:240898402-240898402 2:239958985-239958985 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1930C>G SNV Conflicting interpretations of pathogenicity 898493 2:240898605-240898605 2:239959188-239959188 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1453G>A SNV Conflicting interpretations of pathogenicity 897411 2:240899082-240899082 2:239959665-239959665 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*183C>T SNV Conflicting interpretations of pathogenicity 895993 2:240900352-240900352 2:239960935-239960935 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*679A>G SNV Conflicting interpretations of pathogenicity 897056 2:240899856-240899856 2:239960439-239960439 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.*249T>C SNV Conflicting interpretations of pathogenicity 905347 5:256784-256784 5:256669-256669 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6951G>A SNV Conflicting interpretations of pathogenicity 692687 MT:6951-6951 MT:6951-6951 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1781G>A (p.Arg594Lys) SNV Conflicting interpretations of pathogenicity 649093 5:251570-251570 5:251455-251455 LGH007 Leigh Syndrome BCS1L NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile) SNV Conflicting interpretations of pathogenicity 666656 2:219527716-219527716 2:218662993-218662993 LGH007 Leigh Syndrome ND4L NC_012920.1(MT-ND4L):m.10644G>A SNV Conflicting interpretations of pathogenicity 618217 rs1569484385 MT:10644-10644 MT:10644-10644 LGH007 Leigh Syndrome ND4 NC_012920.1(MT-ND4):m.10931T>C SNV Conflicting interpretations of pathogenicity 618728 rs1569484408 MT:10931-10931 MT:10931-10931 LGH007 Leigh Syndrome ND5 NC_012920.1(MT-ND5):m.13528A>G SNV Conflicting interpretations of pathogenicity 618218 rs55882959 MT:13528-13528 MT:13528-13528 LGH007 Leigh Syndrome ND6 NC_012920.1(MT-ND6):m.14633A>G SNV Conflicting interpretations of pathogenicity 618219 rs1569484667 MT:14633-14633 MT:14633-14633 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.808_814dup (p.Leu272fs) duplication Conflicting interpretations of pathogenicity 548531 rs1554768224 9:136218934-136218935 9:133352079-133352080 LGH007 Leigh Syndrome CYTB NC_012920.1(MT-CYB):m.15467A>G SNV Conflicting interpretations of pathogenicity 618216 rs1569484723 MT:15467-15467 MT:15467-15467 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8553C>T SNV Conflicting interpretations of pathogenicity 618720 rs1569484219 MT:8553-8553 MT:8553-8553 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8553C>T SNV Conflicting interpretations of pathogenicity 618720 rs1569484219 MT:8553-8553 MT:8553-8553 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1188G>A (p.Thr396=) SNV Conflicting interpretations of pathogenicity 472306 rs778667374 5:235382-235382 5:235267-235267 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.-2A>T SNV Conflicting interpretations of pathogenicity 486359 rs763680697 5:218469-218469 5:218354-218354 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.1291C>T (p.Arg431Trp) SNV Conflicting interpretations of pathogenicity 445971 rs113058506 17:14110489-14110489 17:14207172-14207172 LGH007 Leigh Syndrome COX2 NC_012920.1(MT-CO2):m.7637G>A SNV Conflicting interpretations of pathogenicity 439912 rs1556423314 MT:7637-7637 MT:7637-7637 LGH007 Leigh Syndrome NDUFS7 NM_024407.5(NDUFS7):c.138G>A (p.Leu46=) SNV Conflicting interpretations of pathogenicity 389475 rs147710123 19:1388847-1388847 19:1388848-1388848 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1527G>A (p.Ser509=) SNV Conflicting interpretations of pathogenicity 417252 rs746453879 5:240567-240567 5:240452-240452 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1014G>A (p.Ala338=) SNV Conflicting interpretations of pathogenicity 417246 rs201341132 5:233710-233710 5:233595-233595 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1725G>A (p.Ala575=) SNV Conflicting interpretations of pathogenicity 417229 rs758252610 5:251514-251514 5:251399-251399 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.5C>T (p.Ser2Leu) SNV Conflicting interpretations of pathogenicity 412386 rs780064103 5:218475-218475 5:218360-218360 LGH007 Leigh Syndrome NDUFAF2 NM_174889.5(NDUFAF2):c.451G>A (p.Gly151Ser) SNV Conflicting interpretations of pathogenicity 493411 rs9885480 5:60448723-60448723 5:61152896-61152896 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.532A>T (p.Asn178Tyr) SNV Conflicting interpretations of pathogenicity 520389 rs587753385 9:136219605-136219605 9:133352750-133352750 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.452C>G (p.Ser151Ter) SNV Conflicting interpretations of pathogenicity 496238 rs149718203 10:101486855-101486855 10:99727098-99727098 LGH007 Leigh Syndrome NDUFS3 NM_004551.3(NDUFS3):c.747G>A (p.Pro249=) SNV Conflicting interpretations of pathogenicity 514270 rs3740654 11:47605985-47605985 11:47584433-47584433 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.411G>A (p.Gly137=) SNV Conflicting interpretations of pathogenicity 511280 rs371690301 17:10596232-10596232 17:10692915-10692915 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.558C>T (p.Ala186=) SNV Conflicting interpretations of pathogenicity 539705 rs199618059 5:226099-226099 5:225984-225984 LGH007 Leigh Syndrome NDUFAF6 NM_152416.4(NDUFAF6):c.719G>T (p.Gly240Val) SNV Conflicting interpretations of pathogenicity 523019 rs762620949 8:96060689-96060689 8:95048461-95048461 LGH007 Leigh Syndrome ND4 NC_012920.1:m.12013A>G SNV Uncertain significance 370056 rs1057516067 MT:12013-12013 MT:12013-12013 LGH007 Leigh Syndrome ND4 NC_012920.1:m.12018C>G SNV Uncertain significance 370057 rs1057516068 MT:12018-12018 MT:12018-12018 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15060G>A SNV Uncertain significance 370062 rs1057516072 MT:15060-15060 MT:15060-15060 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15246G>A SNV Uncertain significance 370065 rs1057516075 MT:15246-15246 MT:15246-15246 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9166T>C SNV Uncertain significance 370051 rs1057516063 MT:9166-9166 MT:9166-9166 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.192G>A (p.Leu64=) SNV Uncertain significance 321813 rs569444237 17:13980066-13980066 17:14076749-14076749 LGH007 Leigh Syndrome NDUFS7 NM_024407.5(NDUFS7):c.322G>A (p.Val108Met) SNV Uncertain significance 328338 rs368174338 19:1390963-1390963 19:1390964-1390964 LGH007 Leigh Syndrome NDUFS7 NM_024407.5(NDUFS7):c.21T>C (p.Pro7=) SNV Uncertain significance 328336 rs201222388 19:1387814-1387814 19:1387815-1387815 LGH007 Leigh Syndrome NDUFS7 NM_024407.5(NDUFS7):c.*3_*5CCG[4] short repeat Uncertain significance 328341 rs3065757 19:1395488-1395493 19:1395489-1395494 LGH007 Leigh Syndrome NDUFS7 NM_024407.5(NDUFS7):c.*3_*5CCG[5] short repeat Uncertain significance 328340 rs3065757 19:1395488-1395490 19:1395489-1395491 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*152T>A SNV Uncertain significance 321821 rs886052602 17:14110682-14110682 17:14207365-14207365 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*535C>A SNV Uncertain significance 321827 rs886052604 17:14111065-14111065 17:14207748-14207748 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*564dup duplication Uncertain significance 321828 rs886052605 17:14111093-14111094 17:14207776-14207777 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*591_*592del deletion Uncertain significance 321829 rs886052606 17:14111121-14111122 17:14207804-14207805 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*628C>G SNV Uncertain significance 321830 rs886052607 17:14111158-14111158 17:14207841-14207841 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*823C>T SNV Uncertain significance 321835 rs886052609 17:14111353-14111353 17:14208036-14208036 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.*601del deletion Uncertain significance 321781 rs886052591 17:10583835-10583835 17:10680518-10680518 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.*594A>G SNV Uncertain significance 321782 rs183020275 17:10583842-10583842 17:10680525-10680525 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.*403A>G SNV Uncertain significance 321783 rs886052592 17:10584033-10584033 17:10680716-10680716 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.*349C>G SNV Uncertain significance 321784 rs151279533 17:10584087-10584087 17:10680770-10680770 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.*285C>T SNV Uncertain significance 321787 rs886052593 17:10584151-10584151 17:10680834-10680834 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.673G>A (p.Val225Ile) SNV Uncertain significance 321793 rs886052595 17:10590142-10590142 17:10686825-10686825 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.304T>G (p.Phe102Val) SNV Uncertain significance 321795 rs539094737 17:10599118-10599118 17:10695801-10695801 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.273G>A (p.Gly91=) SNV Uncertain significance 321796 rs886052596 17:10600552-10600552 17:10697235-10697235 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*13G>A SNV Uncertain significance 321818 rs371047487 17:14110543-14110543 17:14207226-14207226 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*150_*152del deletion Uncertain significance 321820 rs200239586 17:14110669-14110671 17:14207352-14207354 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.*127A>G SNV Uncertain significance 321789 rs779082082 17:10584309-10584309 17:10680992-10680992 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.*61A>C SNV Uncertain significance 321790 rs886052594 17:10584375-10584375 17:10681058-10681058 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.689C>T (p.Thr230Met) SNV Uncertain significance 321792 rs141066877 17:10590126-10590126 17:10686809-10686809 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.15C>T (p.Val5=) SNV Uncertain significance 321799 rs780334801 17:10600810-10600810 17:10697493-10697493 LGH007 Leigh Syndrome SCO1 NM_004589.3(SCO1):c.-52delA deletion Uncertain significance 321801 rs566330071 17:10600876-10600876 17:10697559-10697559 LGH007 Leigh Syndrome NDUFS8 NM_002496.4(NDUFS8):c.200-14C>T SNV Uncertain significance 305766 rs373128833 11:67800564-67800564 11:68033097-68033097 LGH007 Leigh Syndrome NDUFS8 NM_002496.4(NDUFS8):c.598G>A (p.Ala200Thr) SNV Uncertain significance 305773 rs578145610 11:67804025-67804025 11:68036558-68036558 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.123G>A (p.Arg41=) SNV Uncertain significance 321811 rs886052599 17:13977719-13977719 17:14074402-14074402 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.173G>A (p.Arg58His) SNV Uncertain significance 321812 rs772223730 17:13977769-13977769 17:14074452-14074452 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*739A>G SNV Uncertain significance 321833 rs886052608 17:14111269-14111269 17:14207952-14207952 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*1367G>A SNV Uncertain significance 321842 rs555512140 17:14111897-14111897 17:14208580-14208580 LGH007 Leigh Syndrome NDUFS7 NM_024407.5(NDUFS7):c.*8G>A SNV Uncertain significance 328342 rs756081375 19:1395495-1395495 19:1395496-1395496 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.-40G>A SNV Uncertain significance 321807 rs376921957 17:13972883-13972883 17:14069566-14069566 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.-29C>A SNV Uncertain significance 321808 rs373184679 17:13972894-13972894 17:14069577-14069577 LGH007 Leigh Syndrome NDUFS7 NM_024407.5(NDUFS7):c.561C>A (p.Ala187=) SNV Uncertain significance 328339 rs144570086 19:1395406-1395406 19:1395407-1395407 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.640G>A (p.Ala214Thr) SNV Uncertain significance 321794 rs145764824 17:10595204-10595204 17:10691887-10691887 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.259C>T (p.Pro87Ser) SNV Uncertain significance 321797 rs757958481 17:10600566-10600566 17:10697249-10697249 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.-90G>T SNV Uncertain significance 321805 rs886052598 17:13972833-13972833 17:14069516-14069516 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.333G>T (p.Lys111Asn) SNV Uncertain significance 305743 rs886048588 11:67376929-67376929 11:67609458-67609458 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.530A>G (p.Tyr177Cys) SNV Uncertain significance 305746 rs551603121 11:67377871-67377871 11:67610400-67610400 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.1188G>A (p.Met396Ile) SNV Uncertain significance 305755 rs142050639 11:67379616-67379616 11:67612145-67612145 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.1353G>T (p.Gln451His) SNV Uncertain significance 305757 rs768582587 11:67379887-67379887 11:67612416-67612416 LGH007 Leigh Syndrome NDUFS8 NM_002496.4(NDUFS8):c.133G>A (p.Glu45Lys) SNV Uncertain significance 305763 rs764943259 11:67800413-67800413 11:68032946-68032946 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.1027T>C (p.Cys343Arg) SNV Uncertain significance 377357 rs200818252 17:14110225-14110225 17:14206908-14206908 LGH007 Leigh Syndrome NDUFS4 NM_002495.4(NDUFS4):c.178-4G>C SNV Uncertain significance 353889 rs200384843 5:52942059-52942059 5:53646229-53646229 LGH007 Leigh Syndrome NDUFAF2 NM_174889.4(NDUFAF2):c.-110A>C SNV Uncertain significance 354026 rs886060723 5:60240973-60240973 5:60945146-60945146 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.*75A>G SNV Uncertain significance 353207 rs886060517 5:256610-256610 5:256495-256495 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.269T>C (p.Val90Ala) SNV Uncertain significance 353202 rs886060514 5:224593-224593 5:224478-224478 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.*189C>T SNV Uncertain significance 353209 rs185107377 5:256724-256724 5:256609-256609 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*1877A>G SNV Uncertain significance 358594 rs182010485 7:107561581-107561581 7:107921136-107921136 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*1088A>G SNV Uncertain significance 358585 rs886061912 7:107560792-107560792 7:107920347-107920347 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*1092C>T SNV Uncertain significance 358586 rs546777301 7:107560796-107560796 7:107920351-107920351 LGH007 Leigh Syndrome SDHA NM_001294332.1(SDHA):c.-63G>A SNV Uncertain significance 353199 rs886060513 5:218408-218408 5:218293-218293 LGH007 Leigh Syndrome NDUFAF2 NM_174889.5(NDUFAF2):c.414T>A (p.Phe138Leu) SNV Uncertain significance 354036 rs770172045 5:60448686-60448686 5:61152859-61152859 LGH007 Leigh Syndrome NDUFAF2 NM_174889.5(NDUFAF2):c.422A>T (p.Glu141Val) SNV Uncertain significance 354037 rs749677218 5:60448694-60448694 5:61152867-61152867 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.267+15del deletion Uncertain significance 358567 rs886061906 7:107542850-107542850 7:107902405-107902405 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.1228A>C (p.Lys410Gln) SNV Uncertain significance 358570 rs886061907 7:107557899-107557899 7:107917454-107917454 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1092C>T (p.Val364=) SNV Uncertain significance 353204 rs886060515 5:235286-235286 5:235171-235171 LGH007 Leigh Syndrome LRPPRC NM_133259.4(LRPPRC):c.*1387_*1390dup duplication Uncertain significance 336124 rs886056048 2:44114348-44114349 2:43887209-43887210 LGH007 Leigh Syndrome NDUFAF2 NM_174889.4(NDUFAF2):c.-66G>C SNV Uncertain significance 354029 rs376045901 5:60241017-60241017 5:60945190-60945190 LGH007 Leigh Syndrome NDUFAF2 NM_174889.5(NDUFAF2):c.-23_-22GC[3] short repeat Uncertain significance 354031 rs886060725 5:60241059-60241060 5:60945232-60945233 LGH007 Leigh Syndrome NDUFAF2 NM_174889.5(NDUFAF2):c.98A>G (p.Tyr33Cys) SNV Uncertain significance 354033 rs779872068 5:60241180-60241180 5:60945353-60945353 LGH007 Leigh Syndrome LRPPRC NM_133259.4(LRPPRC):c.*1449_*1456dup duplication Uncertain significance 336121 rs57494476 2:44114282-44114283 2:43887143-43887144 LGH007 Leigh Syndrome LRPPRC NM_133259.4(LRPPRC):c.*1445_*1456dup duplication Uncertain significance 336122 rs57494476 2:44114282-44114283 2:43887143-43887144 LGH007 Leigh Syndrome LRPPRC NM_133259.4(LRPPRC):c.1677+7C>T SNV Uncertain significance 336160 rs374995996 2:44177705-44177705 2:43950566-43950566 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1884G>C SNV Uncertain significance 335178 rs886055820 2:240898651-240898651 2:239959234-239959234 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*3098A>T SNV Uncertain significance 335159 rs886055813 2:240897437-240897437 2:239958020-239958020 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*2397A>G SNV Uncertain significance 335167 rs886055816 2:240898138-240898138 2:239958721-239958721 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1915G>A SNV Uncertain significance 335176 rs144590599 2:240898620-240898620 2:239959203-239959203 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*2997G>A SNV Uncertain significance 335162 rs886055814 2:240897538-240897538 2:239958121-239958121 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*2149C>T SNV Uncertain significance 335171 rs570872300 2:240898386-240898386 2:239958969-239958969 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*2042A>C SNV Uncertain significance 335173 rs886055818 2:240898493-240898493 2:239959076-239959076 LGH007 Leigh Syndrome BCS1L NM_001079866.2(BCS1L):c.-50+425T>C SNV Uncertain significance 334353 rs886055625 2:219524891-219524891 2:218660168-218660168 LGH007 Leigh Syndrome BCS1L NM_001079866.2(BCS1L):c.112C>G (p.Leu38Val) SNV Uncertain significance 334356 rs886055626 2:219525822-219525822 2:218661099-218661099 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1214C>T SNV Uncertain significance 335181 rs546735567 2:240899321-240899321 2:239959904-239959904 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1212T>C SNV Uncertain significance 335182 rs886055821 2:240899323-240899323 2:239959906-239959906 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.1120A>G (p.Thr374Ala) SNV Uncertain significance 333784 rs765436915 2:207007423-207007423 2:206142699-206142699 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.*846dup duplication Uncertain significance 333764 rs58253838 2:206988062-206988063 2:206123338-206123339 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*489A>G SNV Uncertain significance 335191 rs886055824 2:240900046-240900046 2:239960629-239960629 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*389C>T SNV Uncertain significance 335196 rs539829771 2:240900146-240900146 2:239960729-239960729 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*361A>G SNV Uncertain significance 335197 rs778261754 2:240900174-240900174 2:239960757-239960757 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.270G>A (p.Gly90=) SNV Uncertain significance 335203 rs770747594 2:240960804-240960804 2:240021387-240021387 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.-36C>T SNV Uncertain significance 335204 rs886055826 2:240964754-240964754 2:240025337-240025337 LGH007 Leigh Syndrome NDUFA10 NM_001322019.1(NDUFA10):c.-93G>T SNV Uncertain significance 335207 rs577432343 2:240964811-240964811 2:240025394-240025394 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*3408T>C SNV Uncertain significance 335153 rs886055810 2:240897127-240897127 2:239957710-239957710 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*105G>A SNV Uncertain significance 335199 rs886055825 2:240900430-240900430 2:239961013-239961013 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.865C>T (p.Arg289Cys) SNV Uncertain significance 335200 rs762669820 2:240944652-240944652 2:240005235-240005235 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.749+11C>T SNV Uncertain significance 335201 rs200760509 2:240951023-240951023 2:240011606-240011606 LGH007 Leigh Syndrome NDUFA10 NM_001322019.1(NDUFA10):c.-92C>T SNV Uncertain significance 335206 rs559797625 2:240964810-240964810 2:240025393-240025393 LGH007 Leigh Syndrome LRPPRC NM_133259.4(LRPPRC):c.*2048dup duplication Uncertain significance 336102 rs546907287 2:44113690-44113691 2:43886551-43886552 LGH007 Leigh Syndrome LRPPRC NM_133259.4(LRPPRC):c.*1435del deletion Uncertain significance 336123 rs886056047 2:44114304-44114304 2:43887165-43887165 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*3141C>T SNV Uncertain significance 335157 rs144864637 2:240897394-240897394 2:239957977-239957977 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*3113G>A SNV Uncertain significance 335158 rs886055812 2:240897422-240897422 2:239958005-239958005 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*2685C>A SNV Uncertain significance 335163 rs114807372 2:240897850-240897850 2:239958433-239958433 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*2297T>G SNV Uncertain significance 335169 rs773090030 2:240898238-240898238 2:239958821-239958821 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1129G>A SNV Uncertain significance 335184 rs886055822 2:240899406-240899406 2:239959989-239959989 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1011A>G SNV Uncertain significance 335185 rs575477219 2:240899524-240899524 2:239960107-239960107 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*925C>G SNV Uncertain significance 335186 rs149563558 2:240899610-240899610 2:239960193-239960193 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*740C>T SNV Uncertain significance 335187 rs886055823 2:240899795-240899795 2:239960378-239960378 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.*866A>C SNV Uncertain significance 333763 rs749790811 2:206988043-206988043 2:206123319-206123319 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.*756A>T SNV Uncertain significance 333766 rs755460274 2:206988153-206988153 2:206123429-206123429 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.*504G>A SNV Uncertain significance 333770 rs548641207 2:206988405-206988405 2:206123681-206123681 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.*27C>T SNV Uncertain significance 333779 rs369746514 2:206988882-206988882 2:206124158-206124158 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.2006A>G (p.Asn669Ser) SNV Uncertain significance 333780 rs142716964 2:206991447-206991447 2:206126723-206126723 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile) SNV Uncertain significance 333781 rs137889316 2:206997706-206997706 2:206132982-206132982 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.1393-7del deletion Uncertain significance 333782 rs760292289 2:206997836-206997836 2:206133112-206133112 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.1363A>G (p.Ile455Val) SNV Uncertain significance 333783 rs758095913 2:207003238-207003238 2:206138514-206138514 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.396C>A (p.Asp132Glu) SNV Uncertain significance 333785 rs757139275 2:207012501-207012501 2:206147777-206147777 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.364G>A (p.Ala122Thr) SNV Uncertain significance 333786 rs886055502 2:207012533-207012533 2:206147809-206147809 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.262-15del deletion Uncertain significance 333788 rs34184317 2:207013835-207013835 2:206149111-206149111 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.262-25dup duplication Uncertain significance 333787 rs34184317 2:207013834-207013835 2:206149110-206149111 LGH007 Leigh Syndrome NDUFA10 NM_001322019.1(NDUFA10):c.-87A>C SNV Uncertain significance 335205 rs886055827 2:240964805-240964805 2:240025388-240025388 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*3557G>A SNV Uncertain significance 335151 rs149933652 2:240896978-240896978 2:239957561-239957561 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*3205G>A SNV Uncertain significance 335155 rs886055811 2:240897330-240897330 2:239957913-239957913 LGH007 Leigh Syndrome BCS1L NM_001079866.2(BCS1L):c.-53G>T SNV Uncertain significance 334352 rs886055624 2:219524463-219524463 2:218659740-218659740 LGH007 Leigh Syndrome BCS1L NM_001079866.2(BCS1L):c.-50+458T>G SNV Uncertain significance 334354 rs188224298 2:219524924-219524924 2:218660201-218660201 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*3067C>T SNV Uncertain significance 335161 rs564992184 2:240897468-240897468 2:239958051-239958051 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*2649G>A SNV Uncertain significance 335164 rs886055815 2:240897886-240897886 2:239958469-239958469 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*2192T>A SNV Uncertain significance 335170 rs886055817 2:240898343-240898343 2:239958926-239958926 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*2111G>A SNV Uncertain significance 335172 rs752139055 2:240898424-240898424 2:239959007-239959007 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1894_*1914delinsGGG indel Uncertain significance 335177 rs886055819 2:240898621-240898641 2:239959204-239959224 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1262C>T SNV Uncertain significance 335179 rs759194775 2:240899273-240899273 2:239959856-239959856 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*546G>A SNV Uncertain significance 335190 rs192485848 2:240899989-240899989 2:239960572-239960572 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*412A>G SNV Uncertain significance 335194 rs546052985 2:240900123-240900123 2:239960706-239960706 LGH007 Leigh Syndrome NDUFS3 NM_004551.3(NDUFS3):c.204C>G (p.Ile68Met) SNV Uncertain significance 291319 rs886044765 11:47602147-47602147 11:47580595-47580595 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.*966A>G SNV Uncertain significance 333762 rs755776989 2:206987943-206987943 2:206123219-206123219 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.*93dup duplication Uncertain significance 333778 rs200446477 2:206988815-206988816 2:206124091-206124092 LGH007 Leigh Syndrome BCS1L NM_001079866.2(BCS1L):c.321-12G>A SNV Uncertain significance 334358 rs776363896 2:219526117-219526117 2:218661394-218661394 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.*561T>C SNV Uncertain significance 333769 rs146538309 2:206988348-206988348 2:206123624-206123624 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.*438C>T SNV Uncertain significance 333772 rs561980718 2:206988471-206988471 2:206123747-206123747 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.*641A>G SNV Uncertain significance 333768 rs886055501 2:206988268-206988268 2:206123544-206123544 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.*151T>C SNV Uncertain significance 333777 rs533179154 2:206988758-206988758 2:206124034-206124034 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.154-10_154-9del deletion Uncertain significance 333789 rs568965659 2:207014658-207014659 2:206149934-206149935 LGH007 Leigh Syndrome NDUFS3 NM_004551.3(NDUFS3):c.753T>G (p.Ser251Arg) SNV Uncertain significance 304998 rs752314902 11:47605991-47605991 11:47584439-47584439 LGH007 Leigh Syndrome NDUFS8 NM_002496.4(NDUFS8):c.199+5G>A SNV Uncertain significance 305764 rs373522607 11:67800484-67800484 11:68033017-68033017 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.414G>T (p.Leu138=) SNV Uncertain significance 305745 rs148461900 11:67377010-67377010 11:67609539-67609539 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.904A>G (p.Lys302Glu) SNV Uncertain significance 305751 rs573896386 11:67378669-67378669 11:67611198-67611198 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.1017C>T (p.Phe339=) SNV Uncertain significance 305752 rs371426372 11:67378977-67378977 11:67611506-67611506 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.1079C>T (p.Ser360Leu) SNV Uncertain significance 305754 rs372208500 11:67379039-67379039 11:67611568-67611568 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.64T>A (p.Trp22Arg) SNV Uncertain significance 321810 rs540737897 17:13977660-13977660 17:14074343-14074343 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.543G>A (p.Pro181=) SNV Uncertain significance 321814 rs371273328 17:14005478-14005478 17:14102161-14102161 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*408G>A SNV Uncertain significance 321825 rs886052603 17:14110938-14110938 17:14207621-14207621 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*1459del deletion Uncertain significance 321844 rs574015313 17:14111989-14111989 17:14208672-14208672 LGH007 Leigh Syndrome COX15 NM_020354.5(ENTPD7):c.*4579G>A SNV Uncertain significance 298368 rs886046595 10:101469019-101469019 10:99709262-99709262 LGH007 Leigh Syndrome COX15 NM_020354.5(ENTPD7):c.*4914T>C SNV Uncertain significance 298370 rs76530337 10:101469354-101469354 10:99709597-99709597 LGH007 Leigh Syndrome COX15 NM_020354.5(ENTPD7):c.*5002G>C SNV Uncertain significance 298372 rs886046597 10:101469442-101469442 10:99709685-99709685 LGH007 Leigh Syndrome COX15 NM_020354.5(ENTPD7):c.*5401T>C SNV Uncertain significance 298376 rs769776249 10:101469841-101469841 10:99710084-99710084 LGH007 Leigh Syndrome COX15 NM_020354.5(ENTPD7):c.*5989T>C SNV Uncertain significance 298382 rs188328622 10:101470429-101470429 10:99710672-99710672 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*3247T>C SNV Uncertain significance 298388 rs74775778 10:101471097-101471097 10:99711340-99711340 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*2898A>G SNV Uncertain significance 298389 rs886046601 10:101471446-101471446 10:99711689-99711689 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*2668C>G SNV Uncertain significance 298393 rs886046603 10:101471676-101471676 10:99711919-99711919 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*1850G>T SNV Uncertain significance 298401 rs755134012 10:101472494-101472494 10:99712737-99712737 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*1474C>T SNV Uncertain significance 298407 rs886046608 10:101472870-101472870 10:99713113-99713113 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*1361C>T SNV Uncertain significance 298409 rs886046610 10:101472983-101472983 10:99713226-99713226 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.1029C>A (p.Leu343=) SNV Uncertain significance 298413 rs757725009 10:101476177-101476177 10:99716420-99716420 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.988-3C>T SNV Uncertain significance 298414 rs745556177 10:101476221-101476221 10:99716464-99716464 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.717G>T (p.Trp239Cys) SNV Uncertain significance 298415 rs886046611 10:101483746-101483746 10:99723989-99723989 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.255T>C (p.Ile85=) SNV Uncertain significance 298418 rs147881961 10:101489327-101489327 10:99729570-99729570 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.161G>A (p.Gly54Glu) SNV Uncertain significance 298419 rs781108007 10:101489421-101489421 10:99729664-99729664 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.-71T>C SNV Uncertain significance 298423 rs886046612 10:101491877-101491877 10:99732120-99732120 LGH007 Leigh Syndrome NDUFS3 NM_004551.3(NDUFS3):c.657G>A (p.Val219=) SNV Uncertain significance 304997 rs377323760 11:47605895-47605895 11:47584343-47584343 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.868A>G (p.Ile290Val) SNV Uncertain significance 321791 rs139771078 17:10584474-10584474 17:10681157-10681157 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.224C>T (p.Pro75Leu) SNV Uncertain significance 321798 rs370147170 17:10600601-10600601 17:10697284-10697284 LGH007 Leigh Syndrome SCO1 NM_004589.3(SCO1):c.-49C>T SNV Uncertain significance 321800 rs778522503 17:10600873-10600873 17:10697556-10697556 LGH007 Leigh Syndrome COX10 NM_001303.3(COX10):c.-170C>G SNV Uncertain significance 321802 rs886052597 17:13972753-13972753 17:14069436-14069436 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.406G>C (p.Asp136His) SNV Uncertain significance 298417 rs766429756 10:101486901-101486901 10:99727144-99727144 LGH007 Leigh Syndrome COX15 NM_004376.6(COX15):c.-114A>G SNV Uncertain significance 298425 rs539821050 10:101491920-101491920 10:99732163-99732163 LGH007 Leigh Syndrome COX15 NM_015960.3(CUTC):c.61+242G>T SNV Uncertain significance 298435 rs886046616 10:101492408-101492408 10:99732651-99732651 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*2060C>T SNV Uncertain significance 298399 rs886046606 10:101472284-101472284 10:99712527-99712527 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*1793G>A SNV Uncertain significance 298402 rs574149332 10:101472551-101472551 10:99712794-99712794 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*1776T>A SNV Uncertain significance 298403 rs145963002 10:101472568-101472568 10:99712811-99712811 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*1309T>C SNV Uncertain significance 298410 rs556850599 10:101473035-101473035 10:99713278-99713278 LGH007 Leigh Syndrome COX15 NM_020354.5(ENTPD7):c.*4339C>T SNV Uncertain significance 298366 rs764641759 10:101468779-101468779 10:99709022-99709022 LGH007 Leigh Syndrome COX15 NM_020354.5(ENTPD7):c.*5645C>A SNV Uncertain significance 298379 rs1000984 10:101470085-101470085 10:99710328-99710328 LGH007 Leigh Syndrome COX15 NM_020354.5(ENTPD7):c.*5889A>G SNV Uncertain significance 298380 rs11190252 10:101470329-101470329 10:99710572-99710572 LGH007 Leigh Syndrome COX15 NM_020354.5(ENTPD7):c.*5890C>T SNV Uncertain significance 298381 rs886046599 10:101470330-101470330 10:99710573-99710573 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.-26A>G SNV Uncertain significance 298422 rs2231677 10:101491832-101491832 10:99732075-99732075 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.*14C>T SNV Uncertain significance 305759 rs886048590 11:67379943-67379943 11:67612472-67612472 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.563G>A (p.Gly188Asp) SNV Uncertain significance 305747 rs142982022 11:67377904-67377904 11:67610433-67610433 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.-34T>A SNV Uncertain significance 305739 rs886048586 11:67374442-67374442 11:67606971-67606971 LGH007 Leigh Syndrome COX15 NM_020354.5(ENTPD7):c.*5521G>A SNV Uncertain significance 298378 rs886046598 10:101469961-101469961 10:99710204-99710204 LGH007 Leigh Syndrome NDUFS3 NM_004551.3(NDUFS3):c.381+5G>T SNV Uncertain significance 304995 rs886048392 11:47602541-47602541 11:47580989-47580989 LGH007 Leigh Syndrome NDUFS3 NM_004551.3(NDUFS3):c.381+6T>C SNV Uncertain significance 304996 rs377579231 11:47602542-47602542 11:47580990-47580990 LGH007 Leigh Syndrome NDUFS8 NM_002496.4(NDUFS8):c.501+12C>G SNV Uncertain significance 305769 rs372004236 11:67803860-67803860 11:68036393-68036393 LGH007 Leigh Syndrome NDUFS8 NM_002496.4(NDUFS8):c.*26T>G SNV Uncertain significance 305775 rs886048592 11:67804086-67804086 11:68036619-68036619 LGH007 Leigh Syndrome NDUFS8 NM_002496.4(NDUFS8):c.*44C>T SNV Uncertain significance 305777 rs201815115 11:67804104-67804104 11:68036637-68036637 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.366C>T (p.Val122=) SNV Uncertain significance 365528 rs886063630 9:136220753-136220753 9:133353898-133353898 LGH007 Leigh Syndrome COX15 NM_020354.5(ENTPD7):c.*4296T>C SNV Uncertain significance 298365 rs74152722 10:101468736-101468736 10:99708979-99708979 LGH007 Leigh Syndrome COX15 NM_020354.5(ENTPD7):c.*4976C>T SNV Uncertain significance 298371 rs886046596 10:101469416-101469416 10:99709659-99709659 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*2193A>T SNV Uncertain significance 298398 rs557527426 10:101472151-101472151 10:99712394-99712394 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*1851G>T SNV Uncertain significance 298400 rs754063121 10:101472493-101472493 10:99712736-99712736 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*1716G>A SNV Uncertain significance 298404 rs186244558 10:101472628-101472628 10:99712871-99712871 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*1594C>G SNV Uncertain significance 298406 rs886046607 10:101472750-101472750 10:99712993-99712993 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.131G>A (p.Ser44Asn) SNV Uncertain significance 298420 rs141506146 10:101489451-101489451 10:99729694-99729694 LGH007 Leigh Syndrome COX15 NM_015960.3(CUTC):c.-68G>A SNV Uncertain significance 298427 rs886046613 10:101492038-101492038 10:99732281-99732281 LGH007 Leigh Syndrome COX15 NM_015960.3(CUTC):c.61+46G>C SNV Uncertain significance 298431 rs11595470 10:101492212-101492212 10:99732455-99732455 LGH007 Leigh Syndrome COX15 NM_015960.3(CUTC):c.61+112A>G SNV Uncertain significance 298433 rs550813748 10:101492278-101492278 10:99732521-99732521 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*2857A>G SNV Uncertain significance 298390 rs576268362 10:101471487-101471487 10:99711730-99711730 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*2701A>G SNV Uncertain significance 298392 rs886046602 10:101471643-101471643 10:99711886-99711886 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*2490T>C SNV Uncertain significance 298395 rs886046604 10:101471854-101471854 10:99712097-99712097 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*2459G>T SNV Uncertain significance 298396 rs886046605 10:101471885-101471885 10:99712128-99712128 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*2282G>A SNV Uncertain significance 298397 rs762075313 10:101472062-101472062 10:99712305-99712305 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*1122C>G SNV Uncertain significance 298412 rs142892403 10:101473222-101473222 10:99713465-99713465 LGH007 Leigh Syndrome COX15 NM_004376.6(COX15):c.-84G>A SNV Uncertain significance 298424 rs574143521 10:101491890-101491890 10:99732133-99732133 LGH007 Leigh Syndrome COX15 NM_004376.6(COX15):c.-133T>C SNV Uncertain significance 298426 rs566424487 10:101491939-101491939 10:99732182-99732182 LGH007 Leigh Syndrome COX15 NM_015960.3(CUTC):c.8G>C (p.Arg3Thr) SNV Uncertain significance 298428 rs886046614 10:101492113-101492113 10:99732356-99732356 LGH007 Leigh Syndrome COX15 NM_015960.3(CUTC):c.39G>A (p.Ala13=) SNV Uncertain significance 298429 rs751586131 10:101492144-101492144 10:99732387-99732387 LGH007 Leigh Syndrome NDUFS3 NM_004551.2(NDUFS3):c.-41T>C SNV Uncertain significance 304991 rs750965789 11:47600603-47600603 11:47579051-47579051 LGH007 Leigh Syndrome NDUFS3 NM_004551.2(NDUFS3):c.-30C>T SNV Uncertain significance 304992 rs375483884 11:47600614-47600614 11:47579062-47579062 LGH007 Leigh Syndrome NDUFS3 NM_004551.3(NDUFS3):c.190T>C (p.Tyr64His) SNV Uncertain significance 304994 rs886048391 11:47602133-47602133 11:47580581-47580581 LGH007 Leigh Syndrome NDUFV1 NM_007103.3(NDUFV1):c.-111T>C SNV Uncertain significance 305737 rs563140258 11:67374365-67374365 11:67606894-67606894 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.218C>T (p.Pro73Leu) SNV Uncertain significance 305741 rs886048587 11:67376085-67376085 11:67608614-67608614 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.326+12G>A SNV Uncertain significance 305742 rs184136353 11:67376205-67376205 11:67608734-67608734 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.606G>A (p.Gly202=) SNV Uncertain significance 305748 rs886048589 11:67377947-67377947 11:67610476-67610476 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.1378C>T (p.Arg460Trp) SNV Uncertain significance 305758 rs372047256 11:67379912-67379912 11:67612441-67612441 LGH007 Leigh Syndrome NDUFS8 NM_002496.3(NDUFS8):c.-98G>A SNV Uncertain significance 305761 rs886048591 11:67798103-67798103 11:68030636-68030636 LGH007 Leigh Syndrome NDUFS8 NM_002496.3(NDUFS8):c.-76C>T SNV Uncertain significance 305762 rs544094420 11:67798125-67798125 11:68030658-68030658 LGH007 Leigh Syndrome COX15 NM_020354.5(ENTPD7):c.*4290C>G SNV Uncertain significance 298363 rs886046594 10:101468730-101468730 10:99708973-99708973 LGH007 Leigh Syndrome COX15 NM_020354.5(ENTPD7):c.*4621A>C SNV Uncertain significance 298369 rs56206689 10:101469061-101469061 10:99709304-99709304 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.643C>G (p.Pro215Ala) SNV Uncertain significance 365527 rs147165855 9:136219409-136219409 9:133352554-133352554 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.352A>T (p.Arg118Trp) SNV Uncertain significance 365529 rs201492662 9:136220767-136220767 9:133353912-133353912 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*3670G>A SNV Uncertain significance 298384 rs886046600 10:101470674-101470674 10:99710917-99710917 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.-8G>T SNV Uncertain significance 358563 rs372155330 7:107531688-107531688 7:107891243-107891243 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.1465-7C>G SNV Uncertain significance 358571 rs886061908 7:107559632-107559632 7:107919187-107919187 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*167T>C SNV Uncertain significance 358574 rs886061909 7:107559871-107559871 7:107919426-107919426 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*355A>G SNV Uncertain significance 358577 rs886061910 7:107560059-107560059 7:107919614-107919614 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.74A>C (p.Gln25Pro) SNV Uncertain significance 358564 rs61749951 7:107533679-107533679 7:107893234-107893234 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.860G>A (p.Gly287Glu) SNV Uncertain significance 358569 rs202125745 7:107556126-107556126 7:107915681-107915681 LGH007 Leigh Syndrome NDUFAF2 NM_174889.4(NDUFAF2):c.-63G>T SNV Uncertain significance 354030 rs886060724 5:60241020-60241020 5:60945193-60945193 LGH007 Leigh Syndrome ERCC8 NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu) SNV Uncertain significance 354032 rs886060726 5:60241100-60241100 5:60945273-60945273 LGH007 Leigh Syndrome NDUFAF2 NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu) SNV Uncertain significance 354032 rs886060726 5:60241100-60241100 5:60945273-60945273 LGH007 Leigh Syndrome NDUFAF2 NM_174889.5(NDUFAF2):c.128-14C>G SNV Uncertain significance 354034 rs537327206 5:60368938-60368938 5:61073111-61073111 LGH007 Leigh Syndrome NDUFS4 NM_002495.4(NDUFS4):c.-22C>A SNV Uncertain significance 353888 rs144843461 5:52856471-52856471 5:53560641-53560641 LGH007 Leigh Syndrome NDUFS4 NM_002495.4(NDUFS4):c.*79A>G SNV Uncertain significance 353893 rs886060699 5:52979130-52979130 5:53683300-53683300 LGH007 Leigh Syndrome NDUFAF2 NM_174889.5(NDUFAF2):c.196G>C (p.Asp66His) SNV Uncertain significance 354035 rs769579395 5:60369020-60369020 5:61073193-61073193 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.116C>T (p.Pro39Leu) SNV Uncertain significance 358565 rs766396602 7:107533721-107533721 7:107893276-107893276 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.117G>A (p.Pro39=) SNV Uncertain significance 358566 rs751621846 7:107533722-107533722 7:107893277-107893277 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.677T>C (p.Val226Ala) SNV Uncertain significance 358568 rs750449027 7:107546806-107546806 7:107906361-107906361 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.1503G>A (p.Ala501=) SNV Uncertain significance 358572 rs766286119 7:107559677-107559677 7:107919232-107919232 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*225C>T SNV Uncertain significance 358576 rs553824101 7:107559929-107559929 7:107919484-107919484 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*498T>G SNV Uncertain significance 358580 rs886061911 7:107560202-107560202 7:107919757-107919757 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*1307C>T SNV Uncertain significance 358587 rs568807016 7:107561011-107561011 7:107920566-107920566 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*1724C>G SNV Uncertain significance 358590 rs886061913 7:107561428-107561428 7:107920983-107920983 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*1791_*1794del deletion Uncertain significance 358592 rs760145994 7:107561495-107561498 7:107921050-107921053 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*1857A>C SNV Uncertain significance 358593 rs774099916 7:107561561-107561561 7:107921116-107921116 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11360A>G SNV Uncertain significance 523304 rs878928689 MT:11360-11360 MT:11360-11360 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.736A>G (p.Ile246Val) SNV Uncertain significance 526792 rs782480169 9:136219316-136219316 9:133352461-133352461 LGH007 Leigh Syndrome TIMMDC1 NM_016589.4(TIMMDC1):c.673C>T (p.Arg225Ter) SNV Uncertain significance 548447 rs149481081 3:119236128-119236128 3:119517281-119517281 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.893C>G (p.Pro298Arg) SNV Uncertain significance 526791 rs201822068 9:136218778-136218778 9:133351923-133351923 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.752-4dup duplication Uncertain significance 526790 rs1159512660 9:136219000-136219001 9:133352145-133352146 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.324-10_324-9insAGA insertion Uncertain significance 526794 rs1299986010 9:136220804-136220805 9:133353949-133353950 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.808G>A (p.Glu270Lys) SNV Uncertain significance 526789 rs781924765 9:136218941-136218941 9:133352086-133352086 LGH007 Leigh Syndrome NDUFS4 NM_002495.4(NDUFS4):c.512_514dup (p.Val172_Ser173insGly) duplication Uncertain significance 557691 rs1425486695 5:52979034-52979035 5:53683204-53683205 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.185T>G (p.Leu62Arg) SNV Uncertain significance 580531 rs782125974 9:136221734-136221734 9:133354879-133354879 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys) SNV Uncertain significance 578770 rs182055219 5:233598-233598 5:233483-233483 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1727T>C (p.Leu576Pro) SNV Uncertain significance 577878 rs1318046349 5:251516-251516 5:251401-251401 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.55C>G (p.Arg19Gly) SNV Uncertain significance 578582 rs144038427 7:107533660-107533660 7:107893215-107893215 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5505A>G SNV Uncertain significance 585066 rs1569484003 MT:5505-5505 MT:5505-5505 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8686T>C SNV Uncertain significance 585120 rs1569484231 MT:8686-8686 MT:8686-8686 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1794+105dup duplication Uncertain significance 587409 rs1561011159 5:251684-251685 5:251569-251570 LGH007 Leigh Syndrome NDUFS4 NM_002495.4(NDUFS4):c.355G>C (p.Asp119His) SNV Uncertain significance 587577 rs747359752 5:52954385-52954385 5:53658555-53658555 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.809_826dup (p.Glu270_Ile275dup) duplication Uncertain significance 520390 rs782161777 9:136218922-136218923 9:133352067-133352068 LGH007 Leigh Syndrome NDUFS3 NM_004551.3(NDUFS3):c.149G>A (p.Arg50Gln) SNV Uncertain significance 522043 rs1555198759 11:47602092-47602092 11:47580540-47580540 LGH007 Leigh Syndrome NDUFS8 NM_002496.4(NDUFS8):c.484G>A (p.Val162Met) SNV Uncertain significance 522728 rs1277027467 11:67803831-67803831 11:68036364-68036364 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.897del (p.Val300fs) deletion Uncertain significance 496204 rs782010013 9:136218774-136218774 9:133351919-133351919 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.812C>G (p.Thr271Ser) SNV Uncertain significance 412341 rs765611464 5:231032-231032 5:230917-230917 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1462G>A (p.Ala488Thr) SNV Uncertain significance 412393 rs369100772 5:240502-240502 5:240387-240387 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.613T>C (p.Tyr205His) SNV Uncertain significance 412329 rs61754481 5:226154-226154 5:226039-226039 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.955A>C (p.Ile319Leu) SNV Uncertain significance 412364 rs377509915 5:233651-233651 5:233536-233536 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.685G>A (p.Gly229Arg) SNV Uncertain significance 441034 rs41495051 5:228363-228363 5:228248-228248 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.5C>A (p.Ala2Glu) SNV Uncertain significance 440960 rs147487151 17:10600820-10600820 17:10697503-10697503 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7041G>A SNV Uncertain significance 440983 rs1556423220 MT:7041-7041 MT:7041-7041 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8651T>C SNV Uncertain significance 441129 rs1556423512 MT:8651-8651 MT:8651-8651 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.1061G>A (p.Arg354Gln) SNV Uncertain significance 444401 rs745492359 17:14110259-14110259 17:14206942-14206942 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.311C>T (p.Pro104Leu) SNV Uncertain significance 449007 rs202207627 17:13980185-13980185 17:14076868-14076868 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1150T>G (p.Ser384Ala) SNV Uncertain significance 472302 rs776888362 5:235344-235344 5:235229-235229 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.994C>T (p.Pro332Ser) SNV Uncertain significance 472424 rs373509391 5:233690-233690 5:233575-233575 LGH007 Leigh Syndrome FOXRED1 NM_017547.4(FOXRED1):c.754C>T (p.Arg252Cys) SNV Uncertain significance 445528 rs146661281 11:126145709-126145709 11:126275814-126275814 LGH007 Leigh Syndrome ATP8 NC_012920.1(MT-ATP8):m.8382C>T SNV Uncertain significance 445618 rs1556423437 MT:8382-8382 MT:8382-8382 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.445G>A (p.Ala149Thr) SNV Uncertain significance 486367 rs575617625 5:225666-225666 5:225551-225551 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.448G>A (p.Val150Met) SNV Uncertain significance 486371 rs542980860 5:225669-225669 5:225554-225554 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.118A>T (p.Arg40Trp) SNV Uncertain significance 456663 rs781831910 9:136221801-136221801 9:133354946-133354946 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.784C>T (p.Arg262Ter) SNV Uncertain significance 631620 rs774366079 10:101480792-101480792 10:99721035-99721035 LGH007 Leigh Syndrome FOXRED1 NM_017547.4(FOXRED1):c.568C>T (p.Pro190Ser) SNV Uncertain significance 548593 rs1555065162 11:126144853-126144853 11:126274958-126274958 LGH007 Leigh Syndrome CYTB NC_012920.1(MT-CYB):m.14969T>C SNV Uncertain significance 618215 rs1569484685 MT:14969-14969 MT:14969-14969 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.823A>C (p.Ile275Leu) SNV Uncertain significance 644994 9:136218926-136218926 9:133352071-133352071 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10110A>G SNV Uncertain significance 693262 MT:10110-10110 MT:10110-10110 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10111T>C SNV Uncertain significance 693263 MT:10111-10111 MT:10111-10111 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10146T>C SNV Uncertain significance 693266 MT:10146-10146 MT:10146-10146 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10158T>A SNV Uncertain significance 693267 MT:10158-10158 MT:10158-10158 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10159C>A SNV Uncertain significance 693268 MT:10159-10159 MT:10159-10159 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10225T>C SNV Uncertain significance 693273 MT:10225-10225 MT:10225-10225 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10236A>G SNV Uncertain significance 693274 MT:10236-10236 MT:10236-10236 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10266G>A SNV Uncertain significance 693275 MT:10266-10266 MT:10266-10266 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10269C>A SNV Uncertain significance 693276 MT:10269-10269 MT:10269-10269 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10326T>C SNV Uncertain significance 693280 MT:10326-10326 MT:10326-10326 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10329T>C SNV Uncertain significance 693281 MT:10329-10329 MT:10329-10329 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10348T>C SNV Uncertain significance 693283 MT:10348-10348 MT:10348-10348 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10353G>A SNV Uncertain significance 693284 MT:10353-10353 MT:10353-10353 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10399C>T SNV Uncertain significance 693289 MT:10399-10399 MT:10399-10399 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10401G>A SNV Uncertain significance 693290 MT:10401-10401 MT:10401-10401 LGH007 Leigh Syndrome ND4L NC_012920.1:m.10489A>G SNV Uncertain significance 693291 MT:10489-10489 MT:10489-10489 LGH007 Leigh Syndrome ND4L NC_012920.1:m.10492T>C SNV Uncertain significance 693292 MT:10492-10492 MT:10492-10492 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10366C>T SNV Uncertain significance 693286 MT:10366-10366 MT:10366-10366 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10371G>A SNV Uncertain significance 693287 MT:10371-10371 MT:10371-10371 LGH007 Leigh Syndrome ND4L NC_012920.1:m.10522G>A SNV Uncertain significance 693295 MT:10522-10522 MT:10522-10522 LGH007 Leigh Syndrome ND4L NC_012920.1:m.10524A>G SNV Uncertain significance 693296 MT:10524-10524 MT:10524-10524 LGH007 Leigh Syndrome ND4L NC_012920.1:m.10579T>C SNV Uncertain significance 693298 MT:10579-10579 MT:10579-10579 LGH007 Leigh Syndrome ND4L NC_012920.1:m.10600C>T SNV Uncertain significance 693300 MT:10600-10600 MT:10600-10600 LGH007 Leigh Syndrome ND4L NC_012920.1:m.10602A>G SNV Uncertain significance 693301 MT:10602-10602 MT:10602-10602 LGH007 Leigh Syndrome ND4L NC_012920.1:m.10620A>G SNV Uncertain significance 693303 MT:10620-10620 MT:10620-10620 LGH007 Leigh Syndrome ND4L NC_012920.1:m.10630T>C SNV Uncertain significance 693304 MT:10630-10630 MT:10630-10630 LGH007 Leigh Syndrome ND4L NC_012920.1:m.10677G>A SNV Uncertain significance 693309 MT:10677-10677 MT:10677-10677 LGH007 Leigh Syndrome ND4L NC_012920.1:m.10686G>A SNV Uncertain significance 693311 MT:10686-10686 MT:10686-10686 LGH007 Leigh Syndrome ND4L NC_012920.1:m.10749A>G SNV Uncertain significance 693313 MT:10749-10749 MT:10749-10749 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11634G>A SNV Uncertain significance 693374 MT:11634-11634 MT:11634-11634 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11711G>A SNV Uncertain significance 693377 MT:11711-11711 MT:11711-11711 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11733T>C SNV Uncertain significance 693378 MT:11733-11733 MT:11733-11733 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11781T>C SNV Uncertain significance 693379 MT:11781-11781 MT:11781-11781 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11792T>G SNV Uncertain significance 693380 MT:11792-11792 MT:11792-11792 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11825G>A SNV Uncertain significance 693382 MT:11825-11825 MT:11825-11825 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11906G>A SNV Uncertain significance 693383 MT:11906-11906 MT:11906-11906 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11913C>T SNV Uncertain significance 693384 MT:11913-11913 MT:11913-11913 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11931T>C SNV Uncertain significance 693387 MT:11931-11931 MT:11931-11931 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11223T>C SNV Uncertain significance 693353 MT:11223-11223 MT:11223-11223 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11232T>C SNV Uncertain significance 693354 MT:11232-11232 MT:11232-11232 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11246G>A SNV Uncertain significance 693355 MT:11246-11246 MT:11246-11246 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11289T>C SNV Uncertain significance 693359 MT:11289-11289 MT:11289-11289 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11301T>C SNV Uncertain significance 693360 MT:11301-11301 MT:11301-11301 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11363G>A SNV Uncertain significance 693364 MT:11363-11363 MT:11363-11363 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11393C>T SNV Uncertain significance 693365 MT:11393-11393 MT:11393-11393 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11498A>G SNV Uncertain significance 693368 MT:11498-11498 MT:11498-11498 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11577G>A SNV Uncertain significance 693369 MT:11577-11577 MT:11577-11577 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11583T>C SNV Uncertain significance 693371 MT:11583-11583 MT:11583-11583 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11615A>G SNV Uncertain significance 693372 MT:11615-11615 MT:11615-11615 LGH007 Leigh Syndrome ND4 NC_012920.1:m.10776T>C SNV Uncertain significance 693316 MT:10776-10776 MT:10776-10776 LGH007 Leigh Syndrome ND4 NC_012920.1:m.10785T>C SNV Uncertain significance 693317 MT:10785-10785 MT:10785-10785 LGH007 Leigh Syndrome ND4 NC_012920.1:m.10791T>C SNV Uncertain significance 693318 MT:10791-10791 MT:10791-10791 LGH007 Leigh Syndrome ND4 NC_012920.1:m.10857T>C SNV Uncertain significance 693320 MT:10857-10857 MT:10857-10857 LGH007 Leigh Syndrome ND4 NC_012920.1:m.10863G>A SNV Uncertain significance 693321 MT:10863-10863 MT:10863-10863 LGH007 Leigh Syndrome ND4 NC_012920.1:m.10911G>A SNV Uncertain significance 693325 MT:10911-10911 MT:10911-10911 LGH007 Leigh Syndrome ND4 NC_012920.1:m.10913T>C SNV Uncertain significance 693326 MT:10913-10913 MT:10913-10913 LGH007 Leigh Syndrome ND4 NC_012920.1:m.10915T>G SNV Uncertain significance 693328 MT:10915-10915 MT:10915-10915 LGH007 Leigh Syndrome ND4 NC_012920.1:m.10922A>G SNV Uncertain significance 693330 MT:10922-10922 MT:10922-10922 LGH007 Leigh Syndrome ND4 NC_012920.1:m.10932C>T SNV Uncertain significance 693331 MT:10932-10932 MT:10932-10932 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11004G>A SNV Uncertain significance 693332 MT:11004-11004 MT:11004-11004 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11013C>A SNV Uncertain significance 693333 MT:11013-11013 MT:11013-11013 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11043A>G SNV Uncertain significance 693337 MT:11043-11043 MT:11043-11043 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11069A>G SNV Uncertain significance 693339 MT:11069-11069 MT:11069-11069 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11090A>G SNV Uncertain significance 693341 MT:11090-11090 MT:11090-11090 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11111T>C SNV Uncertain significance 693342 MT:11111-11111 MT:11111-11111 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11120T>C SNV Uncertain significance 693343 MT:11120-11120 MT:11120-11120 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11139T>C SNV Uncertain significance 693345 MT:11139-11139 MT:11139-11139 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11144A>T SNV Uncertain significance 693346 MT:11144-11144 MT:11144-11144 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11157T>C SNV Uncertain significance 693349 MT:11157-11157 MT:11157-11157 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11978T>A SNV Uncertain significance 693393 MT:11978-11978 MT:11978-11978 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11981C>T SNV Uncertain significance 693394 MT:11981-11981 MT:11981-11981 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11990T>C SNV Uncertain significance 693395 MT:11990-11990 MT:11990-11990 LGH007 Leigh Syndrome ND4 NC_012920.1:m.12011T>G SNV Uncertain significance 693396 MT:12011-12011 MT:12011-12011 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11964T>G SNV Uncertain significance 693391 MT:11964-11964 MT:11964-11964 LGH007 Leigh Syndrome ND4 NC_012920.1:m.12031C>A SNV Uncertain significance 693403 MT:12031-12031 MT:12031-12031 LGH007 Leigh Syndrome ND4 NC_012920.1:m.12040A>T SNV Uncertain significance 693405 MT:12040-12040 MT:12040-12040 LGH007 Leigh Syndrome ND4 NC_012920.1:m.12054G>A SNV Uncertain significance 693406 MT:12054-12054 MT:12054-12054 LGH007 Leigh Syndrome ND4 NC_012920.1:m.12117T>C SNV Uncertain significance 693413 MT:12117-12117 MT:12117-12117 LGH007 Leigh Syndrome ND4 NC_012920.1:m.12122A>G SNV Uncertain significance 693414 MT:12122-12122 MT:12122-12122 LGH007 Leigh Syndrome ND4 NC_012920.1:m.12128T>C SNV Uncertain significance 693416 MT:12128-12128 MT:12128-12128 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12344T>C SNV Uncertain significance 693421 MT:12344-12344 MT:12344-12344 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12349A>G SNV Uncertain significance 693422 MT:12349-12349 MT:12349-12349 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12382A>G SNV Uncertain significance 693429 MT:12382-12382 MT:12382-12382 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12383T>C SNV Uncertain significance 693430 MT:12383-12383 MT:12383-12383 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12386C>T SNV Uncertain significance 693431 MT:12386-12386 MT:12386-12386 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12389C>T SNV Uncertain significance 693432 MT:12389-12389 MT:12389-12389 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12410A>G SNV Uncertain significance 693437 MT:12410-12410 MT:12410-12410 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12426C>A SNV Uncertain significance 693441 MT:12426-12426 MT:12426-12426 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12448T>A SNV Uncertain significance 693444 MT:12448-12448 MT:12448-12448 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12448T>C SNV Uncertain significance 693445 MT:12448-12448 MT:12448-12448 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12457G>A SNV Uncertain significance 693448 MT:12457-12457 MT:12457-12457 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12458C>T SNV Uncertain significance 693449 MT:12458-12458 MT:12458-12458 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12479T>C SNV Uncertain significance 693450 MT:12479-12479 MT:12479-12479 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12481T>C SNV Uncertain significance 693451 MT:12481-12481 MT:12481-12481 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12501G>C SNV Uncertain significance 693454 MT:12501-12501 MT:12501-12501 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12509A>G SNV Uncertain significance 693455 MT:12509-12509 MT:12509-12509 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12544A>G SNV Uncertain significance 693460 MT:12544-12544 MT:12544-12544 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12545C>T SNV Uncertain significance 693461 MT:12545-12545 MT:12545-12545 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12556A>G SNV Uncertain significance 693462 MT:12556-12556 MT:12556-12556 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12560A>G SNV Uncertain significance 693464 MT:12560-12560 MT:12560-12560 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12561G>C SNV Uncertain significance 693465 MT:12561-12561 MT:12561-12561 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12587A>G SNV Uncertain significance 693466 MT:12587-12587 MT:12587-12587 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12520A>G SNV Uncertain significance 693457 MT:12520-12520 MT:12520-12520 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12601T>C SNV Uncertain significance 693468 MT:12601-12601 MT:12601-12601 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12613G>T SNV Uncertain significance 693469 MT:12613-12613 MT:12613-12613 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13064T>C SNV Uncertain significance 693514 MT:13064-13064 MT:13064-13064 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13073T>A SNV Uncertain significance 693515 MT:13073-13073 MT:13073-13073 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13097T>C SNV Uncertain significance 693517 MT:13097-13097 MT:13097-13097 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13099G>A SNV Uncertain significance 693518 MT:13099-13099 MT:13099-13099 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12994G>A SNV Uncertain significance 693509 MT:12994-12994 MT:12994-12994 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12997G>A SNV Uncertain significance 693510 MT:12997-12997 MT:12997-12997 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13027C>A SNV Uncertain significance 693511 MT:13027-13027 MT:13027-13027 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13106T>C SNV Uncertain significance 693520 MT:13106-13106 MT:13106-13106 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13112T>C SNV Uncertain significance 693521 MT:13112-13112 MT:13112-13112 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13154T>C SNV Uncertain significance 693529 MT:13154-13154 MT:13154-13154 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13159A>G SNV Uncertain significance 693530 MT:13159-13159 MT:13159-13159 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13162C>A SNV Uncertain significance 693531 MT:13162-13162 MT:13162-13162 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13147C>T SNV Uncertain significance 693526 MT:13147-13147 MT:13147-13147 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13151T>C SNV Uncertain significance 693527 MT:13151-13151 MT:13151-13151 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13198G>A SNV Uncertain significance 693534 MT:13198-13198 MT:13198-13198 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13204G>C SNV Uncertain significance 693536 MT:13204-13204 MT:13204-13204 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13240G>A SNV Uncertain significance 693538 MT:13240-13240 MT:13240-13240 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13246T>C SNV Uncertain significance 693539 MT:13246-13246 MT:13246-13246 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13328C>A SNV Uncertain significance 693545 MT:13328-13328 MT:13328-13328 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13336T>C SNV Uncertain significance 693546 MT:13336-13336 MT:13336-13336 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13369T>C SNV Uncertain significance 693547 MT:13369-13369 MT:13369-13369 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13375A>G SNV Uncertain significance 693548 MT:13375-13375 MT:13375-13375 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13376T>C SNV Uncertain significance 693549 MT:13376-13376 MT:13376-13376 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13388A>G SNV Uncertain significance 693550 MT:13388-13388 MT:13388-13388 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13391A>G SNV Uncertain significance 693551 MT:13391-13391 MT:13391-13391 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13406G>A SNV Uncertain significance 693552 MT:13406-13406 MT:13406-13406 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13415G>A SNV Uncertain significance 693553 MT:13415-13415 MT:13415-13415 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13436C>A SNV Uncertain significance 693554 MT:13436-13436 MT:13436-13436 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13438C>A SNV Uncertain significance 693555 MT:13438-13438 MT:13438-13438 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13463G>A SNV Uncertain significance 693556 MT:13463-13463 MT:13463-13463 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12631T>C SNV Uncertain significance 693471 MT:12631-12631 MT:12631-12631 LGH007 Leigh Syndrome ND5 NC_012920.1(MT-ND5):m.12673A>G SNV Uncertain significance 693475 MT:12673-12673 MT:12673-12673 LGH007 Leigh Syndrome ND5 NC_012920.1(MT-ND5):m.12713T>C SNV Uncertain significance 693477 MT:12713-12713 MT:12713-12713 LGH007 Leigh Syndrome ND5 NC_012920.1(MT-ND5):m.12743A>G SNV Uncertain significance 693480 MT:12743-12743 MT:12743-12743 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12775G>A SNV Uncertain significance 693482 MT:12775-12775 MT:12775-12775 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12797T>C SNV Uncertain significance 693483 MT:12797-12797 MT:12797-12797 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12799A>G SNV Uncertain significance 693484 MT:12799-12799 MT:12799-12799 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12814G>A SNV Uncertain significance 693485 MT:12814-12814 MT:12814-12814 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12835G>A SNV Uncertain significance 693487 MT:12835-12835 MT:12835-12835 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12836C>T SNV Uncertain significance 693488 MT:12836-12836 MT:12836-12836 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12842T>C SNV Uncertain significance 693489 MT:12842-12842 MT:12842-12842 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12851T>C SNV Uncertain significance 693491 MT:12851-12851 MT:12851-12851 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12865A>G SNV Uncertain significance 693493 MT:12865-12865 MT:12865-12865 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12868G>A SNV Uncertain significance 693494 MT:12868-12868 MT:12868-12868 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12905T>C SNV Uncertain significance 693498 MT:12905-12905 MT:12905-12905 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12941C>T SNV Uncertain significance 693503 MT:12941-12941 MT:12941-12941 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13478C>T SNV Uncertain significance 693562 MT:13478-13478 MT:13478-13478 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13484T>C SNV Uncertain significance 693563 MT:13484-13484 MT:13484-13484 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13495A>G SNV Uncertain significance 693564 MT:13495-13495 MT:13495-13495 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13507T>C SNV Uncertain significance 693565 MT:13507-13507 MT:13507-13507 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13522A>C SNV Uncertain significance 693567 MT:13522-13522 MT:13522-13522 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13522A>G SNV Uncertain significance 693566 MT:13522-13522 MT:13522-13522 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13524C>A SNV Uncertain significance 693568 MT:13524-13524 MT:13524-13524 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13279G>A SNV Uncertain significance 693541 MT:13279-13279 MT:13279-13279 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13288G>A SNV Uncertain significance 693543 MT:13288-13288 MT:13288-13288 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13468C>A SNV Uncertain significance 693559 MT:13468-13468 MT:13468-13468 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13471G>A SNV Uncertain significance 693560 MT:13471-13471 MT:13471-13471 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13552G>A SNV Uncertain significance 693571 MT:13552-13552 MT:13552-13552 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13568T>C SNV Uncertain significance 693573 MT:13568-13568 MT:13568-13568 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13583C>T SNV Uncertain significance 693576 MT:13583-13583 MT:13583-13583 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13612A>T SNV Uncertain significance 693579 MT:13612-13612 MT:13612-13612 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13616T>C SNV Uncertain significance 693581 MT:13616-13616 MT:13616-13616 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13645T>A SNV Uncertain significance 693583 MT:13645-13645 MT:13645-13645 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13651A>C SNV Uncertain significance 693585 MT:13651-13651 MT:13651-13651 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13651A>T SNV Uncertain significance 693587 MT:13651-13651 MT:13651-13651 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13664T>C SNV Uncertain significance 693589 MT:13664-13664 MT:13664-13664 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13712C>T SNV Uncertain significance 693594 MT:13712-13712 MT:13712-13712 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13726G>A SNV Uncertain significance 693595 MT:13726-13726 MT:13726-13726 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13760C>T SNV Uncertain significance 693601 MT:13760-13760 MT:13760-13760 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13835C>T SNV Uncertain significance 693620 MT:13835-13835 MT:13835-13835 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13885C>A SNV Uncertain significance 693626 MT:13885-13885 MT:13885-13885 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13919T>C SNV Uncertain significance 693633 MT:13919-13919 MT:13919-13919 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13946T>C SNV Uncertain significance 693640 MT:13946-13946 MT:13946-13946 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13913T>C SNV Uncertain significance 693631 MT:13913-13913 MT:13913-13913 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13974A>T SNV Uncertain significance 693646 MT:13974-13974 MT:13974-13974 LGH007 Leigh Syndrome ND5 NC_012920.1:m.14020T>G SNV Uncertain significance 693649 MT:14020-14020 MT:14020-14020 LGH007 Leigh Syndrome ND5 NC_012920.1:m.14050T>C SNV Uncertain significance 693656 MT:14050-14050 MT:14050-14050 LGH007 Leigh Syndrome ND5 NC_012920.1:m.14051C>T SNV Uncertain significance 693657 MT:14051-14051 MT:14051-14051 LGH007 Leigh Syndrome ND5 NC_012920.1:m.14053A>C SNV Uncertain significance 693659 MT:14053-14053 MT:14053-14053 LGH007 Leigh Syndrome ND5 NC_012920.1:m.14042A>T SNV Uncertain significance 693654 MT:14042-14042 MT:14042-14042 LGH007 Leigh Syndrome ND5 NC_012920.1:m.14091A>T SNV Uncertain significance 693665 MT:14091-14091 MT:14091-14091 LGH007 Leigh Syndrome ND5 NC_012920.1:m.14112C>A SNV Uncertain significance 693667 MT:14112-14112 MT:14112-14112 LGH007 Leigh Syndrome ND5 NC_012920.1:m.14113T>C SNV Uncertain significance 693668 MT:14113-14113 MT:14113-14113 LGH007 Leigh Syndrome ND5 NC_012920.1:m.14138T>C SNV Uncertain significance 693672 MT:14138-14138 MT:14138-14138 LGH007 Leigh Syndrome ND5 NC_012920.1:m.14140A>G SNV Uncertain significance 693673 MT:14140-14140 MT:14140-14140 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14154T>G SNV Uncertain significance 693679 MT:14154-14154 MT:14154-14154 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14180T>G SNV Uncertain significance 693683 MT:14180-14180 MT:14180-14180 LGH007 Leigh Syndrome ND5 NC_012920.1:m.14143A>G SNV Uncertain significance 693676 MT:14143-14143 MT:14143-14143 LGH007 Leigh Syndrome ND5 NC_012920.1:m.14144C>T SNV Uncertain significance 693677 MT:14144-14144 MT:14144-14144 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14199T>C SNV Uncertain significance 693689 MT:14199-14199 MT:14199-14199 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14210A>G SNV Uncertain significance 693691 MT:14210-14210 MT:14210-14210 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14225C>T SNV Uncertain significance 693693 MT:14225-14225 MT:14225-14225 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14231T>C SNV Uncertain significance 693695 MT:14231-14231 MT:14231-14231 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14234T>C SNV Uncertain significance 693696 MT:14234-14234 MT:14234-14234 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14297A>G SNV Uncertain significance 693704 MT:14297-14297 MT:14297-14297 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14301T>C SNV Uncertain significance 693705 MT:14301-14301 MT:14301-14301 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14307T>C SNV Uncertain significance 693706 MT:14307-14307 MT:14307-14307 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14276C>T SNV Uncertain significance 693701 MT:14276-14276 MT:14276-14276 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14328C>T SNV Uncertain significance 693710 MT:14328-14328 MT:14328-14328 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14339A>G SNV Uncertain significance 693712 MT:14339-14339 MT:14339-14339 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14375A>C SNV Uncertain significance 693716 MT:14375-14375 MT:14375-14375 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14382T>G SNV Uncertain significance 693717 MT:14382-14382 MT:14382-14382 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14423G>A SNV Uncertain significance 693722 MT:14423-14423 MT:14423-14423 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14466T>C SNV Uncertain significance 693727 MT:14466-14466 MT:14466-14466 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14468T>C SNV Uncertain significance 693728 MT:14468-14468 MT:14468-14468 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14484T>G SNV Uncertain significance 693729 MT:14484-14484 MT:14484-14484 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14444T>C SNV Uncertain significance 693724 MT:14444-14444 MT:14444-14444 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14523T>C SNV Uncertain significance 693731 MT:14523-14523 MT:14523-14523 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14544G>T SNV Uncertain significance 693733 MT:14544-14544 MT:14544-14544 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14573A>G SNV Uncertain significance 693739 MT:14573-14573 MT:14573-14573 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14576A>G SNV Uncertain significance 693741 MT:14576-14576 MT:14576-14576 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14601G>A SNV Uncertain significance 693745 MT:14601-14601 MT:14601-14601 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14615G>A SNV Uncertain significance 693746 MT:14615-14615 MT:14615-14615 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14619A>G SNV Uncertain significance 693747 MT:14619-14619 MT:14619-14619 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14627A>G SNV Uncertain significance 693748 MT:14627-14627 MT:14627-14627 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14660A>G SNV Uncertain significance 693750 MT:14660-14660 MT:14660-14660 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14667A>G SNV Uncertain significance 693751 MT:14667-14667 MT:14667-14667 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14670T>C SNV Uncertain significance 693752 MT:14670-14670 MT:14670-14670 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14748T>C SNV Uncertain significance 693753 MT:14748-14748 MT:14748-14748 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14760G>A SNV Uncertain significance 693758 MT:14760-14760 MT:14760-14760 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14765A>T SNV Uncertain significance 693759 MT:14765-14765 MT:14765-14765 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14768A>G SNV Uncertain significance 693760 MT:14768-14768 MT:14768-14768 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14778T>C SNV Uncertain significance 693762 MT:14778-14778 MT:14778-14778 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14786A>G SNV Uncertain significance 693763 MT:14786-14786 MT:14786-14786 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14792C>T SNV Uncertain significance 693765 MT:14792-14792 MT:14792-14792 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14795T>C SNV Uncertain significance 693767 MT:14795-14795 MT:14795-14795 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14804G>A SNV Uncertain significance 693769 MT:14804-14804 MT:14804-14804 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14813A>T SNV Uncertain significance 693770 MT:14813-14813 MT:14813-14813 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14825A>G SNV Uncertain significance 693771 MT:14825-14825 MT:14825-14825 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14826T>C SNV Uncertain significance 693772 MT:14826-14826 MT:14826-14826 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14831G>C SNV Uncertain significance 693773 MT:14831-14831 MT:14831-14831 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14858G>A SNV Uncertain significance 693777 MT:14858-14858 MT:14858-14858 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14838G>A SNV Uncertain significance 693775 MT:14838-14838 MT:14838-14838 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14873C>T SNV Uncertain significance 693782 MT:14873-14873 MT:14873-14873 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6972G>C SNV Uncertain significance 692688 MT:6972-6972 MT:6972-6972 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6978G>A SNV Uncertain significance 692689 MT:6978-6978 MT:6978-6978 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6987T>G SNV Uncertain significance 692690 MT:6987-6987 MT:6987-6987 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7015A>G SNV Uncertain significance 692691 MT:7015-7015 MT:7015-7015 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7020G>A SNV Uncertain significance 692692 MT:7020-7020 MT:7020-7020 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7032T>C SNV Uncertain significance 692693 MT:7032-7032 MT:7032-7032 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6855G>A SNV Uncertain significance 692676 MT:6855-6855 MT:6855-6855 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6856T>C SNV Uncertain significance 692677 MT:6856-6856 MT:6856-6856 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6868G>A SNV Uncertain significance 692678 MT:6868-6868 MT:6868-6868 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6876G>A SNV Uncertain significance 692679 MT:6876-6876 MT:6876-6876 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6897A>G SNV Uncertain significance 692681 MT:6897-6897 MT:6897-6897 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6909G>A SNV Uncertain significance 692682 MT:6909-6909 MT:6909-6909 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6912G>A SNV Uncertain significance 692683 MT:6912-6912 MT:6912-6912 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6916T>C SNV Uncertain significance 692685 MT:6916-6916 MT:6916-6916 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6924G>A SNV Uncertain significance 692686 MT:6924-6924 MT:6924-6924 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7053G>A SNV Uncertain significance 692695 MT:7053-7053 MT:7053-7053 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7077G>A SNV Uncertain significance 692696 MT:7077-7077 MT:7077-7077 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7084T>C SNV Uncertain significance 692699 MT:7084-7084 MT:7084-7084 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7125A>G SNV Uncertain significance 692701 MT:7125-7125 MT:7125-7125 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7146_7147inv inversion Uncertain significance 692705 MT:7146-7147 MT:7146-7147 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7147C>T SNV Uncertain significance 692706 MT:7147-7147 MT:7147-7147 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7153T>C SNV Uncertain significance 692709 MT:7153-7153 MT:7153-7153 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7155T>C SNV Uncertain significance 692710 MT:7155-7155 MT:7155-7155 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7138T>C SNV Uncertain significance 692703 MT:7138-7138 MT:7138-7138 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7168A>G SNV Uncertain significance 692714 MT:7168-7168 MT:7168-7168 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7187A>T SNV Uncertain significance 692715 MT:7187-7187 MT:7187-7187 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7233C>T SNV Uncertain significance 692718 MT:7233-7233 MT:7233-7233 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7249C>T SNV Uncertain significance 692720 MT:7249-7249 MT:7249-7249 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7279T>C SNV Uncertain significance 692727 MT:7279-7279 MT:7279-7279 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7284T>G SNV Uncertain significance 692728 MT:7284-7284 MT:7284-7284 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7290A>G SNV Uncertain significance 692729 MT:7290-7290 MT:7290-7290 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7272G>A SNV Uncertain significance 692725 MT:7272-7272 MT:7272-7272 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7300T>C SNV Uncertain significance 692731 MT:7300-7300 MT:7300-7300 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7332G>A SNV Uncertain significance 692733 MT:7332-7332 MT:7332-7332 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7347G>A SNV Uncertain significance 692734 MT:7347-7347 MT:7347-7347 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7357T>C SNV Uncertain significance 692736 MT:7357-7357 MT:7357-7357 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7362G>A SNV Uncertain significance 692737 MT:7362-7362 MT:7362-7362 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7365C>A SNV Uncertain significance 692739 MT:7365-7365 MT:7365-7365 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7374A>G SNV Uncertain significance 692740 MT:7374-7374 MT:7374-7374 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7408A>G SNV Uncertain significance 692742 MT:7408-7408 MT:7408-7408 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7440T>C SNV Uncertain significance 692746 MT:7440-7440 MT:7440-7440 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7440T>G SNV Uncertain significance 692747 MT:7440-7440 MT:7440-7440 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6550A>G SNV Uncertain significance 692659 MT:6550-6550 MT:6550-6550 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6564G>A SNV Uncertain significance 692660 MT:6564-6564 MT:6564-6564 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6642A>G SNV Uncertain significance 692662 MT:6642-6642 MT:6642-6642 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6664T>C SNV Uncertain significance 692664 MT:6664-6664 MT:6664-6664 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6709G>A SNV Uncertain significance 692666 MT:6709-6709 MT:6709-6709 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6712A>T SNV Uncertain significance 692667 MT:6712-6712 MT:6712-6712 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6714A>G SNV Uncertain significance 692668 MT:6714-6714 MT:6714-6714 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6747T>C SNV Uncertain significance 692670 MT:6747-6747 MT:6747-6747 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6748T>C SNV Uncertain significance 692671 MT:6748-6748 MT:6748-6748 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6756T>C SNV Uncertain significance 692672 MT:6756-6756 MT:6756-6756 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6781T>C SNV Uncertain significance 692673 MT:6781-6781 MT:6781-6781 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6844T>C SNV Uncertain significance 692674 MT:6844-6844 MT:6844-6844 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6286T>C SNV Uncertain significance 692636 MT:6286-6286 MT:6286-6286 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6289A>G SNV Uncertain significance 692637 MT:6289-6289 MT:6289-6289 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6307A>G SNV Uncertain significance 692638 MT:6307-6307 MT:6307-6307 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6324G>A SNV Uncertain significance 692639 MT:6324-6324 MT:6324-6324 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6393T>C SNV Uncertain significance 692647 MT:6393-6393 MT:6393-6393 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6420C>A SNV Uncertain significance 692648 MT:6420-6420 MT:6420-6420 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6481T>C SNV Uncertain significance 692652 MT:6481-6481 MT:6481-6481 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6504G>A SNV Uncertain significance 692653 MT:6504-6504 MT:6504-6504 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6505T>C SNV Uncertain significance 692654 MT:6505-6505 MT:6505-6505 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6358T>C SNV Uncertain significance 692643 MT:6358-6358 MT:6358-6358 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6520T>C SNV Uncertain significance 692656 MT:6520-6520 MT:6520-6520 LGH007 Leigh Syndrome COX1 NC_012920.1:m.5961C>A SNV Uncertain significance 692602 MT:5961-5961 MT:5961-5961 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6012A>G SNV Uncertain significance 692606 MT:6012-6012 MT:6012-6012 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6037G>A SNV Uncertain significance 692608 MT:6037-6037 MT:6037-6037 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6048G>A SNV Uncertain significance 692610 MT:6048-6048 MT:6048-6048 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6060A>C SNV Uncertain significance 692612 MT:6060-6060 MT:6060-6060 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6061T>C SNV Uncertain significance 692614 MT:6061-6061 MT:6061-6061 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6072A>G SNV Uncertain significance 692615 MT:6072-6072 MT:6072-6072 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6075G>A SNV Uncertain significance 692616 MT:6075-6075 MT:6075-6075 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6081G>T SNV Uncertain significance 692618 MT:6081-6081 MT:6081-6081 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6093G>A SNV Uncertain significance 692619 MT:6093-6093 MT:6093-6093 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6109T>C SNV Uncertain significance 692620 MT:6109-6109 MT:6109-6109 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6121T>C SNV Uncertain significance 692621 MT:6121-6121 MT:6121-6121 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6174G>A SNV Uncertain significance 692626 MT:6174-6174 MT:6174-6174 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6132G>A SNV Uncertain significance 692623 MT:6132-6132 MT:6132-6132 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6258G>A SNV Uncertain significance 692632 MT:6258-6258 MT:6258-6258 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6273A>G SNV Uncertain significance 692634 MT:6273-6273 MT:6273-6273 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4632G>A SNV Uncertain significance 692469 MT:4632-4632 MT:4632-4632 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4638A>G SNV Uncertain significance 692470 MT:4638-4638 MT:4638-4638 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4659G>T SNV Uncertain significance 692474 MT:4659-4659 MT:4659-4659 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4665G>A SNV Uncertain significance 692475 MT:4665-4665 MT:4665-4665 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4676C>A SNV Uncertain significance 692477 MT:4676-4676 MT:4676-4676 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4680C>A SNV Uncertain significance 692478 MT:4680-4680 MT:4680-4680 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4690T>C SNV Uncertain significance 692480 MT:4690-4690 MT:4690-4690 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4717A>T SNV Uncertain significance 692486 MT:4717-4717 MT:4717-4717 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4494A>G SNV Uncertain significance 692449 MT:4494-4494 MT:4494-4494 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4495T>C SNV Uncertain significance 692450 MT:4495-4495 MT:4495-4495 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4497T>C SNV Uncertain significance 692451 MT:4497-4497 MT:4497-4497 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4503A>T SNV Uncertain significance 692454 MT:4503-4503 MT:4503-4503 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4509T>C SNV Uncertain significance 692456 MT:4509-4509 MT:4509-4509 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4548T>C SNV Uncertain significance 692460 MT:4548-4548 MT:4548-4548 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4554A>G SNV Uncertain significance 692461 MT:4554-4554 MT:4554-4554 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4513C>T SNV Uncertain significance 692458 MT:4513-4513 MT:4513-4513 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4579T>C SNV Uncertain significance 692464 MT:4579-4579 MT:4579-4579 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4745A>T SNV Uncertain significance 692494 MT:4745-4745 MT:4745-4745 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4746T>C SNV Uncertain significance 692495 MT:4746-4746 MT:4746-4746 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4749T>C SNV Uncertain significance 692496 MT:4749-4749 MT:4749-4749 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4759T>C SNV Uncertain significance 692497 MT:4759-4759 MT:4759-4759 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4768_4769delinsCG indel Uncertain significance 692503 MT:4768-4769 MT:4768-4769 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4770G>A SNV Uncertain significance 692504 MT:4770-4770 MT:4770-4770 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4776G>A SNV Uncertain significance 692505 MT:4776-4776 MT:4776-4776 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4788G>A SNV Uncertain significance 692506 MT:4788-4788 MT:4788-4788 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4789G>A SNV Uncertain significance 692507 MT:4789-4789 MT:4789-4789 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4764A>G SNV Uncertain significance 692500 MT:4764-4764 MT:4764-4764 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4765T>C SNV Uncertain significance 692501 MT:4765-4765 MT:4765-4765 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4894T>C SNV Uncertain significance 692514 MT:4894-4894 MT:4894-4894 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4902A>G SNV Uncertain significance 692515 MT:4902-4902 MT:4902-4902 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4923A>T SNV Uncertain significance 692518 MT:4923-4923 MT:4923-4923 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4929C>T SNV Uncertain significance 692521 MT:4929-4929 MT:4929-4929 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4935A>C SNV Uncertain significance 692522 MT:4935-4935 MT:4935-4935 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4935A>G SNV Uncertain significance 692523 MT:4935-4935 MT:4935-4935 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5010T>C SNV Uncertain significance 692534 MT:5010-5010 MT:5010-5010 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5038T>C SNV Uncertain significance 692535 MT:5038-5038 MT:5038-5038 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4948T>C SNV Uncertain significance 692526 MT:4948-4948 MT:4948-4948 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4953A>G SNV Uncertain significance 692527 MT:4953-4953 MT:4953-4953 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4954T>C SNV Uncertain significance 692528 MT:4954-4954 MT:4954-4954 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5047T>C SNV Uncertain significance 692537 MT:5047-5047 MT:5047-5047 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4974G>A SNV Uncertain significance 692532 MT:4974-4974 MT:4974-4974 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5080A>G SNV Uncertain significance 692543 MT:5080-5080 MT:5080-5080 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5094A>G SNV Uncertain significance 692545 MT:5094-5094 MT:5094-5094 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5265A>G SNV Uncertain significance 692561 MT:5265-5265 MT:5265-5265 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5266T>C SNV Uncertain significance 692562 MT:5266-5266 MT:5266-5266 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5190A>G SNV Uncertain significance 692553 MT:5190-5190 MT:5190-5190 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5289A>G SNV Uncertain significance 692566 MT:5289-5289 MT:5289-5289 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5295C>A SNV Uncertain significance 692569 MT:5295-5295 MT:5295-5295 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5296T>C SNV Uncertain significance 692570 MT:5296-5296 MT:5296-5296 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5310A>G SNV Uncertain significance 692574 MT:5310-5310 MT:5310-5310 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5311T>C SNV Uncertain significance 692575 MT:5311-5311 MT:5311-5311 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5301A>C SNV Uncertain significance 692573 MT:5301-5301 MT:5301-5301 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5320C>G SNV Uncertain significance 692579 MT:5320-5320 MT:5320-5320 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5325A>G SNV Uncertain significance 692581 MT:5325-5325 MT:5325-5325 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5444C>A SNV Uncertain significance 692588 MT:5444-5444 MT:5444-5444 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5451A>G SNV Uncertain significance 692589 MT:5451-5451 MT:5451-5451 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5496A>G SNV Uncertain significance 692597 MT:5496-5496 MT:5496-5496 LGH007 Leigh Syndrome COX1 NC_012920.1:m.5907T>C SNV Uncertain significance 692598 MT:5907-5907 MT:5907-5907 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14888G>A SNV Uncertain significance 693786 MT:14888-14888 MT:14888-14888 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14895T>C SNV Uncertain significance 693787 MT:14895-14895 MT:14895-14895 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14900G>A SNV Uncertain significance 693788 MT:14900-14900 MT:14900-14900 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14921G>A SNV Uncertain significance 693789 MT:14921-14921 MT:14921-14921 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14924T>C SNV Uncertain significance 693790 MT:14924-14924 MT:14924-14924 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14880T>C SNV Uncertain significance 693784 MT:14880-14880 MT:14880-14880 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14945G>A SNV Uncertain significance 693792 MT:14945-14945 MT:14945-14945 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14952T>C SNV Uncertain significance 693793 MT:14952-14952 MT:14952-14952 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14958G>A SNV Uncertain significance 693795 MT:14958-14958 MT:14958-14958 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14960G>A SNV Uncertain significance 693796 MT:14960-14960 MT:14960-14960 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14963G>A SNV Uncertain significance 693797 MT:14963-14963 MT:14963-14963 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14973G>A SNV Uncertain significance 693799 MT:14973-14973 MT:14973-14973 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14976G>A SNV Uncertain significance 693800 MT:14976-14976 MT:14976-14976 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14980C>A SNV Uncertain significance 693803 MT:14980-14980 MT:14980-14980 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14982T>C SNV Uncertain significance 693804 MT:14982-14982 MT:14982-14982 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15003G>A SNV Uncertain significance 693808 MT:15003-15003 MT:15003-15003 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15011A>G SNV Uncertain significance 693809 MT:15011-15011 MT:15011-15011 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15016C>A SNV Uncertain significance 693811 MT:15016-15016 MT:15016-15016 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15048G>C SNV Uncertain significance 693816 MT:15048-15048 MT:15048-15048 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15059G>A SNV Uncertain significance 693817 MT:15059-15059 MT:15059-15059 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15062T>C SNV Uncertain significance 693818 MT:15062-15062 MT:15062-15062 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15033T>C SNV Uncertain significance 693813 MT:15033-15033 MT:15033-15033 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15045G>A SNV Uncertain significance 693814 MT:15045-15045 MT:15045-15045 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15078A>G SNV Uncertain significance 693821 MT:15078-15078 MT:15078-15078 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15100C>A SNV Uncertain significance 693825 MT:15100-15100 MT:15100-15100 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15117T>C SNV Uncertain significance 693828 MT:15117-15117 MT:15117-15117 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15138A>G SNV Uncertain significance 693831 MT:15138-15138 MT:15138-15138 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15141T>C SNV Uncertain significance 693832 MT:15141-15141 MT:15141-15141 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15152G>A SNV Uncertain significance 693833 MT:15152-15152 MT:15152-15152 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15153G>A SNV Uncertain significance 693834 MT:15153-15153 MT:15153-15153 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15159T>C SNV Uncertain significance 693835 MT:15159-15159 MT:15159-15159 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15191T>A SNV Uncertain significance 693837 MT:15191-15191 MT:15191-15191 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15200G>A SNV Uncertain significance 693838 MT:15200-15200 MT:15200-15200 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15222A>G SNV Uncertain significance 693845 MT:15222-15222 MT:15222-15222 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15228T>C SNV Uncertain significance 693846 MT:15228-15228 MT:15228-15228 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15233T>C SNV Uncertain significance 693847 MT:15233-15233 MT:15233-15233 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15233T>G SNV Uncertain significance 693848 MT:15233-15233 MT:15233-15233 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15237T>G SNV Uncertain significance 693850 MT:15237-15237 MT:15237-15237 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15238C>A SNV Uncertain significance 693851 MT:15238-15238 MT:15238-15238 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15243G>A SNV Uncertain significance 693852 MT:15243-15243 MT:15243-15243 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15245G>A SNV Uncertain significance 693853 MT:15245-15245 MT:15245-15245 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15257_15258delinsAG indel Uncertain significance 693854 MT:15257-15258 MT:15257-15258 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15266A>G SNV Uncertain significance 693857 MT:15266-15266 MT:15266-15266 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15273C>A SNV Uncertain significance 693859 MT:15273-15273 MT:15273-15273 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15294T>C SNV Uncertain significance 693860 MT:15294-15294 MT:15294-15294 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15309T>C SNV Uncertain significance 693862 MT:15309-15309 MT:15309-15309 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15326_15327inv inversion Uncertain significance 693867 MT:15326-15327 MT:15326-15327 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15327C>T SNV Uncertain significance 693868 MT:15327-15327 MT:15327-15327 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15336T>A SNV Uncertain significance 693869 MT:15336-15336 MT:15336-15336 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15357G>A SNV Uncertain significance 693871 MT:15357-15357 MT:15357-15357 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15404T>C SNV Uncertain significance 693879 MT:15404-15404 MT:15404-15404 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15413T>C SNV Uncertain significance 693880 MT:15413-15413 MT:15413-15413 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15414A>T SNV Uncertain significance 693881 MT:15414-15414 MT:15414-15414 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15428G>A SNV Uncertain significance 693882 MT:15428-15428 MT:15428-15428 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15452_15453delinsAC indel Uncertain significance 693886 MT:15452-15453 MT:15452-15453 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15462T>C SNV Uncertain significance 693887 MT:15462-15462 MT:15462-15462 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15465T>C SNV Uncertain significance 693888 MT:15465-15465 MT:15465-15465 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15468C>T SNV Uncertain significance 693889 MT:15468-15468 MT:15468-15468 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15483C>T SNV Uncertain significance 693891 MT:15483-15483 MT:15483-15483 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15488G>A SNV Uncertain significance 693892 MT:15488-15488 MT:15488-15488 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15500G>A SNV Uncertain significance 693893 MT:15500-15500 MT:15500-15500 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15501A>G SNV Uncertain significance 693894 MT:15501-15501 MT:15501-15501 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15519T>A SNV Uncertain significance 693897 MT:15519-15519 MT:15519-15519 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15534A>G SNV Uncertain significance 693904 MT:15534-15534 MT:15534-15534 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15542C>T SNV Uncertain significance 693905 MT:15542-15542 MT:15542-15542 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15557G>A SNV Uncertain significance 693906 MT:15557-15557 MT:15557-15557 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15567T>C SNV Uncertain significance 693907 MT:15567-15567 MT:15567-15567 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15575G>A SNV Uncertain significance 693908 MT:15575-15575 MT:15575-15575 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15581A>G SNV Uncertain significance 693909 MT:15581-15581 MT:15581-15581 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15584A>G SNV Uncertain significance 693910 MT:15584-15584 MT:15584-15584 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15522C>G SNV Uncertain significance 693899 MT:15522-15522 MT:15522-15522 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15525A>G SNV Uncertain significance 693901 MT:15525-15525 MT:15525-15525 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15531T>C SNV Uncertain significance 693902 MT:15531-15531 MT:15531-15531 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15617G>C SNV Uncertain significance 693914 MT:15617-15617 MT:15617-15617 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15623G>A SNV Uncertain significance 693916 MT:15623-15623 MT:15623-15623 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15638A>G SNV Uncertain significance 693917 MT:15638-15638 MT:15638-15638 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15639T>C SNV Uncertain significance 693918 MT:15639-15639 MT:15639-15639 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15642T>C SNV Uncertain significance 693919 MT:15642-15642 MT:15642-15642 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15612G>A SNV Uncertain significance 693912 MT:15612-15612 MT:15612-15612 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15614G>A SNV Uncertain significance 693913 MT:15614-15614 MT:15614-15614 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15653A>G SNV Uncertain significance 693923 MT:15653-15653 MT:15653-15653 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15653A>T SNV Uncertain significance 693924 MT:15653-15653 MT:15653-15653 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15686A>G SNV Uncertain significance 693932 MT:15686-15686 MT:15686-15686 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15690T>C SNV Uncertain significance 693933 MT:15690-15690 MT:15690-15690 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15708G>C SNV Uncertain significance 693936 MT:15708-15708 MT:15708-15708 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15737G>A SNV Uncertain significance 693942 MT:15737-15737 MT:15737-15737 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15740C>T SNV Uncertain significance 693943 MT:15740-15740 MT:15740-15740 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15743C>T SNV Uncertain significance 693944 MT:15743-15743 MT:15743-15743 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15770C>T SNV Uncertain significance 693946 MT:15770-15770 MT:15770-15770 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15785T>C SNV Uncertain significance 693952 MT:15785-15785 MT:15785-15785 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15793C>A SNV Uncertain significance 693955 MT:15793-15793 MT:15793-15793 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15831T>C SNV Uncertain significance 693962 MT:15831-15831 MT:15831-15831 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15834T>C SNV Uncertain significance 693963 MT:15834-15834 MT:15834-15834 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15843T>C SNV Uncertain significance 693964 MT:15843-15843 MT:15843-15843 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15852T>G SNV Uncertain significance 693968 MT:15852-15852 MT:15852-15852 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3307A>T SNV Uncertain significance 692328 MT:3307-3307 MT:3307-3307 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3308delinsAC indel Uncertain significance 692329 MT:3308-3308 MT:3308-3308 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3310C>T SNV Uncertain significance 692330 MT:3310-3310 MT:3310-3310 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3313A>G SNV Uncertain significance 692331 MT:3313-3313 MT:3313-3313 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3316G>C SNV Uncertain significance 692332 MT:3316-3316 MT:3316-3316 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3320A>G SNV Uncertain significance 692334 MT:3320-3320 MT:3320-3320 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3328C>T SNV Uncertain significance 692335 MT:3328-3328 MT:3328-3328 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3357G>C SNV Uncertain significance 692343 MT:3357-3357 MT:3357-3357 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3358G>A SNV Uncertain significance 692344 MT:3358-3358 MT:3358-3358 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3395A>C SNV Uncertain significance 692349 MT:3395-3395 MT:3395-3395 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15873T>C SNV Uncertain significance 693971 MT:15873-15873 MT:15873-15873 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15882G>A SNV Uncertain significance 693972 MT:15882-15882 MT:15882-15882 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3419A>G SNV Uncertain significance 692353 MT:3419-3419 MT:3419-3419 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3427G>A SNV Uncertain significance 692355 MT:3427-3427 MT:3427-3427 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3488T>C SNV Uncertain significance 692357 MT:3488-3488 MT:3488-3488 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3508A>G SNV Uncertain significance 692362 MT:3508-3508 MT:3508-3508 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3509T>C SNV Uncertain significance 692363 MT:3509-3509 MT:3509-3509 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3526G>A SNV Uncertain significance 692367 MT:3526-3526 MT:3526-3526 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3569C>T SNV Uncertain significance 692372 MT:3569-3569 MT:3569-3569 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3607G>A SNV Uncertain significance 692377 MT:3607-3607 MT:3607-3607 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3622C>A SNV Uncertain significance 692378 MT:3622-3622 MT:3622-3622 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3652A>G SNV Uncertain significance 692383 MT:3652-3652 MT:3652-3652 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3653T>C SNV Uncertain significance 692384 MT:3653-3653 MT:3653-3653 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3661T>G SNV Uncertain significance 692385 MT:3661-3661 MT:3661-3661 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3670G>A SNV Uncertain significance 692386 MT:3670-3670 MT:3670-3670 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3701C>T SNV Uncertain significance 692387 MT:3701-3701 MT:3701-3701 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3709G>A SNV Uncertain significance 692388 MT:3709-3709 MT:3709-3709 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3710C>T SNV Uncertain significance 692389 MT:3710-3710 MT:3710-3710 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3712G>A SNV Uncertain significance 692390 MT:3712-3712 MT:3712-3712 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3713T>C SNV Uncertain significance 692391 MT:3713-3713 MT:3713-3713 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3715G>A SNV Uncertain significance 692392 MT:3715-3715 MT:3715-3715 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3749T>C SNV Uncertain significance 692396 MT:3749-3749 MT:3749-3749 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3751A>G SNV Uncertain significance 692397 MT:3751-3751 MT:3751-3751 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3764C>T SNV Uncertain significance 692398 MT:3764-3764 MT:3764-3764 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3772A>G SNV Uncertain significance 692399 MT:3772-3772 MT:3772-3772 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3775A>T SNV Uncertain significance 692400 MT:3775-3775 MT:3775-3775 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3793T>C SNV Uncertain significance 692401 MT:3793-3793 MT:3793-3793 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3910G>A SNV Uncertain significance 692407 MT:3910-3910 MT:3910-3910 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3937T>C SNV Uncertain significance 692408 MT:3937-3937 MT:3937-3937 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3496G>A SNV Uncertain significance 692359 MT:3496-3496 MT:3496-3496 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3643G>A SNV Uncertain significance 692381 MT:3643-3643 MT:3643-3643 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3887A>G SNV Uncertain significance 692405 MT:3887-3887 MT:3887-3887 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4055T>C SNV Uncertain significance 692417 MT:4055-4055 MT:4055-4055 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4082T>C SNV Uncertain significance 692420 MT:4082-4082 MT:4082-4082 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4094C>T SNV Uncertain significance 692423 MT:4094-4094 MT:4094-4094 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4105A>G SNV Uncertain significance 692424 MT:4105-4105 MT:4105-4105 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4148G>A SNV Uncertain significance 692428 MT:4148-4148 MT:4148-4148 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4153G>A SNV Uncertain significance 692429 MT:4153-4153 MT:4153-4153 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4165C>G SNV Uncertain significance 692430 MT:4165-4165 MT:4165-4165 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4180A>G SNV Uncertain significance 692432 MT:4180-4180 MT:4180-4180 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4193T>C SNV Uncertain significance 692433 MT:4193-4193 MT:4193-4193 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4211T>C SNV Uncertain significance 692435 MT:4211-4211 MT:4211-4211 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4238T>C SNV Uncertain significance 692441 MT:4238-4238 MT:4238-4238 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4247T>C SNV Uncertain significance 692443 MT:4247-4247 MT:4247-4247 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4258A>G SNV Uncertain significance 692444 MT:4258-4258 MT:4258-4258 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4480T>C SNV Uncertain significance 692445 MT:4480-4480 MT:4480-4480 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4482G>A SNV Uncertain significance 692446 MT:4482-4482 MT:4482-4482 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4488C>T SNV Uncertain significance 692447 MT:4488-4488 MT:4488-4488 LGH007 Leigh Syndrome NDUFS4 NM_002495.4(NDUFS4):c.5C>A (p.Ala2Glu) SNV Uncertain significance 905818 5:52856497-52856497 5:53560667-53560667 LGH007 Leigh Syndrome NDUFS4 NM_002495.4(NDUFS4):c.9G>T (p.Ala3=) SNV Uncertain significance 905819 5:52856501-52856501 5:53560671-53560671 LGH007 Leigh Syndrome NDUFS4 NM_002495.4(NDUFS4):c.77C>T (p.Ser26Phe) SNV Uncertain significance 906327 5:52856569-52856569 5:53560739-53560739 LGH007 Leigh Syndrome NDUFS4 NM_002495.4(NDUFS4):c.107G>A (p.Arg36Lys) SNV Uncertain significance 907333 5:52899290-52899290 5:53603460-53603460 LGH007 Leigh Syndrome NDUFS4 NM_002495.4(NDUFS4):c.*88T>A SNV Uncertain significance 905876 5:52979139-52979139 5:53683309-53683309 LGH007 Leigh Syndrome NDUFAF2 NM_174889.5(NDUFAF2):c.100T>C (p.Tyr34His) SNV Uncertain significance 906819 5:60241182-60241182 5:60945355-60945355 LGH007 Leigh Syndrome NDUFAF2 NM_174889.5(NDUFAF2):c.136A>G (p.Ile46Val) SNV Uncertain significance 907813 5:60368960-60368960 5:61073133-61073133 LGH007 Leigh Syndrome NDUFAF2 NM_174889.5(NDUFAF2):c.423A>G (p.Glu141=) SNV Uncertain significance 904500 5:60448695-60448695 5:61152868-61152868 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.896-11G>T SNV Uncertain significance 907705 5:233581-233581 5:233466-233466 LGH007 Leigh Syndrome NDUFS4 NM_002495.4(NDUFS4):c.350+6T>C SNV Uncertain significance 903998 5:52942241-52942241 5:53646411-53646411 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.-10C>T SNV Uncertain significance 909173 7:107531686-107531686 7:107891241-107891241 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.30C>A (p.Ser10=) SNV Uncertain significance 911148 7:107531725-107531725 7:107891280-107891280 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.226C>T (p.Leu76Phe) SNV Uncertain significance 909237 7:107542797-107542797 7:107902352-107902352 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.520A>G (p.Ile174Val) SNV Uncertain significance 908459 7:107545887-107545887 7:107905442-107905442 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.1313T>C (p.Met438Thr) SNV Uncertain significance 911498 7:107558445-107558445 7:107918000-107918000 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*374G>T SNV Uncertain significance 908599 7:107560078-107560078 7:107919633-107919633 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*394A>G SNV Uncertain significance 908600 7:107560098-107560098 7:107919653-107919653 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*632G>A SNV Uncertain significance 897057 2:240899903-240899903 2:239960486-239960486 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*548G>C SNV Uncertain significance 897538 2:240899987-240899987 2:239960570-239960570 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*445C>G SNV Uncertain significance 898687 2:240900090-240900090 2:239960673-239960673 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*435A>G SNV Uncertain significance 898688 2:240900100-240900100 2:239960683-239960683 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.261+6T>C SNV Uncertain significance 899079 2:207014536-207014536 2:206149812-206149812 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.749+5G>A SNV Uncertain significance 895780 2:240951029-240951029 2:240011612-240011612 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.460+5A>G SNV Uncertain significance 897653 2:240960609-240960609 2:240021192-240021192 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.403G>A (p.Asp135Asn) SNV Uncertain significance 904234 5:225624-225624 5:225509-225509 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1969G>C (p.Val657Leu) SNV Uncertain significance 905279 5:256509-256509 5:256394-256394 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.*102G>A SNV Uncertain significance 904553 5:256637-256637 5:256522-256522 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.*179G>A SNV Uncertain significance 904554 5:256714-256714 5:256599-256599 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1206G>A SNV Uncertain significance 896984 2:240899329-240899329 2:239959912-239959912 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1198G>A SNV Uncertain significance 896985 2:240899337-240899337 2:239959920-239959920 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1161C>T SNV Uncertain significance 897469 2:240899374-240899374 2:239959957-239959957 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1124C>T SNV Uncertain significance 897470 2:240899411-240899411 2:239959994-239959994 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1057T>G SNV Uncertain significance 897471 2:240899478-240899478 2:239960061-239960061 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1047T>C SNV Uncertain significance 898627 2:240899488-240899488 2:239960071-239960071 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*861C>G SNV Uncertain significance 898628 2:240899674-240899674 2:239960257-239960257 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*857G>C SNV Uncertain significance 895640 2:240899678-240899678 2:239960261-239960261 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*804T>C SNV Uncertain significance 895641 2:240899731-240899731 2:239960314-239960314 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*765C>T SNV Uncertain significance 895642 2:240899770-240899770 2:239960353-239960353 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*732T>G SNV Uncertain significance 897055 2:240899803-240899803 2:239960386-239960386 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.1010G>A (p.Arg337His) SNV Uncertain significance 897590 2:240900593-240900593 2:239961176-239961176 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.994A>G (p.Arg332Gly) SNV Uncertain significance 897591 2:240929496-240929496 2:239990079-239990079 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.985C>T (p.His329Tyr) SNV Uncertain significance 898749 2:240929505-240929505 2:239990088-239990088 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.925A>G (p.Ser309Gly) SNV Uncertain significance 898750 2:240929565-240929565 2:239990148-239990148 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.630C>T (p.Pro210=) SNV Uncertain significance 895781 2:240954195-240954195 2:240014778-240014778 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.558C>T (p.His186=) SNV Uncertain significance 895782 2:240954267-240954267 2:240014850-240014850 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.529G>A (p.Gly177Arg) SNV Uncertain significance 896063 2:240957988-240957988 2:240018571-240018571 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.484T>C (p.Ser162Pro) SNV Uncertain significance 896064 2:240958033-240958033 2:240018616-240018616 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.363G>A (p.Pro121=) SNV Uncertain significance 897654 2:240960711-240960711 2:240021294-240021294 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.354C>T (p.Tyr118=) SNV Uncertain significance 897655 2:240960720-240960720 2:240021303-240021303 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.110G>T (p.Arg37Leu) SNV Uncertain significance 898818 2:240961723-240961723 2:240022306-240022306 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.63C>G (p.Gly21=) SNV Uncertain significance 895858 2:240964656-240964656 2:240025239-240025239 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.41C>G (p.Ser14Cys) SNV Uncertain significance 895859 2:240964678-240964678 2:240025261-240025261 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.29C>T (p.Ala10Val) SNV Uncertain significance 895860 2:240964690-240964690 2:240025273-240025273 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.-34C>T SNV Uncertain significance 896135 2:240964752-240964752 2:240025335-240025335 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1391C>T SNV Uncertain significance 898572 2:240899144-240899144 2:239959727-239959727 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1303C>T SNV Uncertain significance 898574 2:240899232-240899232 2:239959815-239959815 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1245G>A SNV Uncertain significance 895577 2:240899290-240899290 2:239959873-239959873 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1709T>C SNV Uncertain significance 896903 2:240898826-240898826 2:239959409-239959409 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1702G>A SNV Uncertain significance 896904 2:240898833-240898833 2:239959416-239959416 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1665C>A SNV Uncertain significance 896905 2:240898870-240898870 2:239959453-239959453 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1594G>A SNV Uncertain significance 896906 2:240898941-240898941 2:239959524-239959524 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1586A>G SNV Uncertain significance 897408 2:240898949-240898949 2:239959532-239959532 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1486C>T SNV Uncertain significance 897409 2:240899049-240899049 2:239959632-239959632 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1482C>G SNV Uncertain significance 897410 2:240899053-240899053 2:239959636-239959636 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1927G>C SNV Uncertain significance 898494 2:240898608-240898608 2:239959191-239959191 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1879G>A SNV Uncertain significance 895503 2:240898656-240898656 2:239959239-239959239 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*2079A>G SNV Uncertain significance 896839 2:240898456-240898456 2:239959039-239959039 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*2046T>C SNV Uncertain significance 896840 2:240898489-240898489 2:239959072-239959072 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*2009G>C SNV Uncertain significance 897335 2:240898526-240898526 2:239959109-239959109 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1992C>T SNV Uncertain significance 897336 2:240898543-240898543 2:239959126-239959126 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1943A>G SNV Uncertain significance 898492 2:240898592-240898592 2:239959175-239959175 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.-73C>A SNV Uncertain significance 896386 2:207024133-207024133 2:206159409-206159409 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.-75A>G SNV Uncertain significance 896387 2:207024135-207024135 2:206159411-206159411 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.*459A>G SNV Uncertain significance 896189 2:206988450-206988450 2:206123726-206123726 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*2136T>C SNV Uncertain significance 895441 2:240898399-240898399 2:239958982-239958982 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*2455C>G SNV Uncertain significance 897253 2:240898080-240898080 2:239958663-239958663 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*2382C>A SNV Uncertain significance 897254 2:240898153-240898153 2:239958736-239958736 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*2350G>A SNV Uncertain significance 898429 2:240898185-240898185 2:239958768-239958768 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*2242T>C SNV Uncertain significance 898430 2:240898293-240898293 2:239958876-239958876 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.-101G>A SNV Uncertain significance 898015 2:207024161-207024161 2:206159437-206159437 LGH007 Leigh Syndrome NDUFS1 NC_000002.12:g.206159485A>C SNV Uncertain significance 898016 2:207024209-207024209 2:206159485-206159485 LGH007 Leigh Syndrome BCS1L NM_001079866.2(BCS1L):c.-85G>A SNV Uncertain significance 898620 2:219524431-219524431 2:218659708-218659708 LGH007 Leigh Syndrome BCS1L NM_001079866.2(BCS1L):c.566A>G (p.Asn189Ser) SNV Uncertain significance 895700 2:219526587-219526587 2:218661864-218661864 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*3724G>A SNV Uncertain significance 896660 2:240896811-240896811 2:239957394-239957394 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*3711A>G SNV Uncertain significance 896661 2:240896824-240896824 2:239957407-239957407 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*3490G>C SNV Uncertain significance 897121 2:240897045-240897045 2:239957628-239957628 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*3456T>G SNV Uncertain significance 897122 2:240897079-240897079 2:239957662-239957662 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*3409G>A SNV Uncertain significance 898284 2:240897126-240897126 2:239957709-239957709 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*3403A>G SNV Uncertain significance 895289 2:240897132-240897132 2:239957715-239957715 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*3347C>T SNV Uncertain significance 895290 2:240897188-240897188 2:239957771-239957771 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*3301C>T SNV Uncertain significance 895291 2:240897234-240897234 2:239957817-239957817 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*3175T>G SNV Uncertain significance 896710 2:240897360-240897360 2:239957943-239957943 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*3143C>T SNV Uncertain significance 896711 2:240897392-240897392 2:239957975-239957975 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*3095A>G SNV Uncertain significance 897183 2:240897440-240897440 2:239958023-239958023 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*3052G>A SNV Uncertain significance 898349 2:240897483-240897483 2:239958066-239958066 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*3009T>C SNV Uncertain significance 898350 2:240897526-240897526 2:239958109-239958109 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*2900G>A SNV Uncertain significance 895371 2:240897635-240897635 2:239958218-239958218 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*2838C>A SNV Uncertain significance 895372 2:240897697-240897697 2:239958280-239958280 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*2659A>C SNV Uncertain significance 896774 2:240897876-240897876 2:239958459-239958459 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*2648C>T SNV Uncertain significance 896775 2:240897887-240897887 2:239958470-239958470 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.*130A>C SNV Uncertain significance 898933 2:206988779-206988779 2:206124055-206124055 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*1148G>A SNV Uncertain significance 888724 17:14111678-14111678 17:14208361-14208361 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*1002C>T SNV Uncertain significance 892165 17:14111532-14111532 17:14208215-14208215 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*1032T>A SNV Uncertain significance 892166 17:14111562-14111562 17:14208245-14208245 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.1969G>A (p.Asp657Asn) SNV Uncertain significance 894804 2:206991484-206991484 2:206126760-206126760 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.1748T>C (p.Ile583Thr) SNV Uncertain significance 894805 2:206992657-206992657 2:206127933-206127933 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.1612C>T (p.Arg538Trp) SNV Uncertain significance 896255 2:206994908-206994908 2:206130184-206130184 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.1525G>T (p.Asp509Tyr) SNV Uncertain significance 896256 2:206997697-206997697 2:206132973-206132973 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.1291C>T (p.Leu431Phe) SNV Uncertain significance 897861 2:207003310-207003310 2:206138586-206138586 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.986T>C (p.Met329Thr) SNV Uncertain significance 894879 2:207008743-207008743 2:206144019-206144019 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.768G>A (p.Ala256=) SNV Uncertain significance 894880 2:207009720-207009720 2:206144996-206144996 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.361T>C (p.Leu121=) SNV Uncertain significance 897942 2:207012536-207012536 2:206147812-206147812 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.337A>G (p.Arg113Gly) SNV Uncertain significance 897943 2:207013745-207013745 2:206149021-206149021 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.70A>G (p.Thr24Ala) SNV Uncertain significance 899080 2:207017226-207017226 2:206152502-206152502 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.63T>C (p.Val21=) SNV Uncertain significance 899081 2:207017233-207017233 2:206152509-206152509 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.32T>A (p.Val11Glu) SNV Uncertain significance 894948 2:207018371-207018371 2:206153647-206153647 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.-31A>G SNV Uncertain significance 894949 2:207024091-207024091 2:206159367-206159367 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.-38T>G SNV Uncertain significance 894950 2:207024098-207024098 2:206159374-206159374 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.-61G>C SNV Uncertain significance 896384 2:207024121-207024121 2:206159397-206159397 LGH007 Leigh Syndrome NDUFS7 NM_024407.5(NDUFS7):c.5C>T (p.Ala2Val) SNV Uncertain significance 891489 19:1383930-1383930 19:1383931-1383931 LGH007 Leigh Syndrome NDUFS7 NM_024407.5(NDUFS7):c.45T>G (p.Leu15=) SNV Uncertain significance 891739 19:1387838-1387838 19:1387839-1387839 LGH007 Leigh Syndrome NDUFS7 NM_024407.5(NDUFS7):c.158C>T (p.Ala53Val) SNV Uncertain significance 889310 19:1388867-1388867 19:1388868-1388868 LGH007 Leigh Syndrome NDUFS7 NM_024407.5(NDUFS7):c.525C>T (p.Pro175=) SNV Uncertain significance 889995 19:1393310-1393310 19:1393311-1393311 LGH007 Leigh Syndrome NDUFS7 NM_024407.5(NDUFS7):c.*94G>A SNV Uncertain significance 891813 19:1395581-1395581 19:1395582-1395582 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.771+3G>C SNV Uncertain significance 891884 17:10590041-10590041 17:10686724-10686724 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.44-3T>C SNV Uncertain significance 890219 17:13977637-13977637 17:14074320-14074320 LGH007 Leigh Syndrome NDUFS7 NM_024407.5(NDUFS7):c.455+13C>T SNV Uncertain significance 889993 19:1391177-1391177 19:1391178-1391178 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.*1077A>T SNV Uncertain significance 897717 2:206987832-206987832 2:206123108-206123108 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.*938C>T SNV Uncertain significance 897718 2:206987971-206987971 2:206123247-206123247 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.*864G>A SNV Uncertain significance 898873 2:206988045-206988045 2:206123321-206123321 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.439C>T (p.Arg147Trp) SNV Uncertain significance 847261 9:136220680-136220680 9:133353825-133353825 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.251G>C (p.Arg84Pro) SNV Uncertain significance 864330 9:136221586-136221586 9:133354731-133354731 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*2620C>T SNV Uncertain significance 879243 10:101471724-101471724 10:99711967-99711967 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*2595C>T SNV Uncertain significance 879244 10:101471749-101471749 10:99711992-99711992 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*2594T>G SNV Uncertain significance 879245 10:101471750-101471750 10:99711993-99711993 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*2301G>C SNV Uncertain significance 880430 10:101472043-101472043 10:99712286-99712286 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*2301G>A SNV Uncertain significance 880431 10:101472043-101472043 10:99712286-99712286 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*2167A>G SNV Uncertain significance 880432 10:101472177-101472177 10:99712420-99712420 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*1957A>C SNV Uncertain significance 880433 10:101472387-101472387 10:99712630-99712630 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.*47G>A SNV Uncertain significance 912546 9:136218721-136218721 9:133351866-133351866 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.*93C>T SNV Uncertain significance 912545 9:136218675-136218675 9:133351820-133351820 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.836A>G (p.Tyr279Cys) SNV Uncertain significance 912547 9:136218835-136218835 9:133351980-133351980 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.801G>A (p.Leu267=) SNV Uncertain significance 912548 9:136218948-136218948 9:133352093-133352093 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.706G>A (p.Ala236Thr) SNV Uncertain significance 913647 9:136219346-136219346 9:133352491-133352491 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.629C>T (p.Thr210Ile) SNV Uncertain significance 913648 9:136219423-136219423 9:133352568-133352568 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.507C>T (p.Thr169=) SNV Uncertain significance 914051 9:136220612-136220612 9:133353757-133353757 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.437C>T (p.Ala146Val) SNV Uncertain significance 914052 9:136220682-136220682 9:133353827-133353827 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.328A>G (p.Met110Val) SNV Uncertain significance 914559 9:136220791-136220791 9:133353936-133353936 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.226T>C (p.Leu76=) SNV Uncertain significance 914560 9:136221693-136221693 9:133354838-133354838 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*372C>T SNV Uncertain significance 895992 2:240900163-240900163 2:239960746-239960746 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*739G>A SNV Uncertain significance 911618 7:107560443-107560443 7:107919998-107919998 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*845G>A SNV Uncertain significance 908667 7:107560549-107560549 7:107920104-107920104 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*898C>T SNV Uncertain significance 908669 7:107560602-107560602 7:107920157-107920157 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*1027T>G SNV Uncertain significance 910454 7:107560731-107560731 7:107920286-107920286 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*1145A>T SNV Uncertain significance 908727 7:107560849-107560849 7:107920404-107920404 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*1231A>G SNV Uncertain significance 908728 7:107560935-107560935 7:107920490-107920490 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*1401G>T SNV Uncertain significance 909585 7:107561105-107561105 7:107920660-107920660 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*1422C>T SNV Uncertain significance 909586 7:107561126-107561126 7:107920681-107920681 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*1505C>T SNV Uncertain significance 910509 7:107561209-107561209 7:107920764-107920764 LGH007 Leigh Syndrome CYTB m.14985G>A SNV Uncertain significance 9676 rs207459995 MT:14985-14985 MT:14985-14985 LGH007 Leigh Syndrome CYTB m.15498G>A SNV Uncertain significance 9684 rs207460003 MT:15498-15498 MT:15498-15498 LGH007 Leigh Syndrome CYTB m.14849T>C SNV Uncertain significance 9685 rs207460004 MT:14849-14849 MT:14849-14849 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.106+15C>G SNV Uncertain significance 912593 9:136223109-136223109 9:133356254-133356254 LGH007 Leigh Syndrome COX1 m.6264G>A SNV Uncertain significance 9667 rs267606882 MT:6264-6264 MT:6264-6264 LGH007 Leigh Syndrome ND6 m.14498T>C SNV Uncertain significance 65514 rs869025186 MT:14498-14498 MT:14498-14498 LGH007 Leigh Syndrome ND6 m.14279G>A SNV Uncertain significance 65516 rs869025187 MT:14279-14279 MT:14279-14279 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.155C>T (p.Ser52Phe) SNV Uncertain significance 252906 rs377470390 5:224479-224479 5:224364-224364 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.694C>T (p.Arg232Cys) SNV Uncertain significance 239680 rs878854635 5:228372-228372 5:228257-228257 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.739A>G (p.Ile247Val) SNV Uncertain significance 232828 rs571292356 5:228417-228417 5:228302-228302 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8540T>C SNV Uncertain significance 235227 rs878852987 MT:8540-8540 MT:8540-8540 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8540T>C SNV Uncertain significance 235227 rs878852987 MT:8540-8540 MT:8540-8540 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.350A>C (p.Tyr117Ser) SNV Uncertain significance 235744 rs145615218 9:136220769-136220769 9:133353914-133353914 LGH007 Leigh Syndrome COX1 NC_012920.1(MT-CO1):m.6120A>G SNV Uncertain significance 235378 rs878853023 MT:6120-6120 MT:6120-6120 LGH007 Leigh Syndrome CYTB NC_012920.1(MT-CYB):m.15437G>A SNV Uncertain significance 235525 rs878853058 MT:15437-15437 MT:15437-15437 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.92G>A (p.Arg31Gln) SNV Uncertain significance 239687 rs752532780 5:223625-223625 5:223510-223510 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.512G>A (p.Arg171His) SNV Uncertain significance 141875 rs587782076 5:226053-226053 5:225938-225938 LGH007 Leigh Syndrome TRNW NC_012920.1:m.5559A>G SNV Uncertain significance 155884 rs1556423008 MT:5559-5559 MT:5559-5559 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3928G>C SNV Uncertain significance 155891 rs587776442 MT:3928-3928 MT:3928-3928 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15453T>C SNV Uncertain significance 143889 rs527236184 MT:15453-15453 MT:15453-15453 LGH007 Leigh Syndrome NDUFS4 NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro) SNV Uncertain significance 214817 rs149323691 5:52856505-52856505 5:53560675-53560675 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.1600G>A (p.Val534Met) SNV Uncertain significance 214774 rs201806038 2:206994920-206994920 2:206130196-206130196 LGH007 Leigh Syndrome NDUFAF6 NM_152416.4(NDUFAF6):c.371T>C (p.Ile124Thr) SNV Uncertain significance 214212 rs201732170 8:96047755-96047755 8:95035527-95035527 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.788G>A (p.Arg263His) SNV Uncertain significance 203681 rs145670503 7:107556054-107556054 7:107915609-107915609 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.100A>G (p.Thr34Ala) SNV Uncertain significance 203672 rs138002793 7:107533705-107533705 7:107893260-107893260 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.800G>A (p.Arg267Lys) SNV Uncertain significance 214857 rs141400889 11:67378565-67378565 11:67611094-67611094 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.1102G>A (p.Ala368Thr) SNV Uncertain significance 214860 rs376958800 11:67379389-67379389 11:67611918-67611918 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.787A>G (p.Ile263Val) SNV Uncertain significance 215123 rs111708860 17:10584555-10584555 17:10681238-10681238 LGH007 Leigh Syndrome NDUFS7 NM_024407.5(NDUFS7):c.613C>G (p.Arg205Gly) SNV Uncertain significance 214830 rs775856806 19:1395458-1395458 19:1395459-1395459 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.322G>A (p.Asp108Asn) SNV Uncertain significance 215231 rs863224226 9:136221515-136221515 9:133354660-133354660 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.929C>G (p.Pro310Arg) SNV Uncertain significance 214263 rs138293000 10:101478161-101478161 10:99718404-99718404 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.704T>C (p.Ile235Thr) SNV Uncertain significance 221076 rs144513891 5:228382-228382 5:228267-228267 LGH007 Leigh Syndrome FOXRED1 NM_017547.4(FOXRED1):c.1190C>G (p.Ala397Gly) SNV Uncertain significance 214452 rs201727988 11:126147054-126147054 11:126277159-126277159 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.-61A>G SNV Uncertain significance 877317 11:67374415-67374415 11:67606944-67606944 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.101C>T (p.Ser34Leu) SNV Uncertain significance 878347 11:67375895-67375895 11:67608424-67608424 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.446T>C (p.Met149Thr) SNV Uncertain significance 880156 11:67377042-67377042 11:67609571-67609571 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.929G>T (p.Gly310Val) SNV Uncertain significance 880211 11:67378889-67378889 11:67611418-67611418 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.1217C>T (p.Pro406Leu) SNV Uncertain significance 877426 11:67379645-67379645 11:67612174-67612174 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.1233C>T (p.Ser411=) SNV Uncertain significance 877427 11:67379661-67379661 11:67612190-67612190 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.1355G>A (p.Arg452Gln) SNV Uncertain significance 879040 11:67379889-67379889 11:67612418-67612418 LGH007 Leigh Syndrome NDUFS8 NM_002496.4(NDUFS8):c.5G>A (p.Arg2His) SNV Uncertain significance 877478 11:67799623-67799623 11:68032156-68032156 LGH007 Leigh Syndrome COX15 NM_020354.5(ENTPD7):c.*5079T>C SNV Uncertain significance 879191 10:101469519-101469519 10:99709762-99709762 LGH007 Leigh Syndrome COX15 NM_020354.5(ENTPD7):c.*4519C>T SNV Uncertain significance 878591 10:101468959-101468959 10:99709202-99709202 LGH007 Leigh Syndrome COX15 NM_020354.5(ENTPD7):c.*4550G>T SNV Uncertain significance 878592 10:101468990-101468990 10:99709233-99709233 LGH007 Leigh Syndrome COX15 NM_020354.5(ENTPD7):c.*4789T>C SNV Uncertain significance 878593 10:101469229-101469229 10:99709472-99709472 LGH007 Leigh Syndrome COX15 NM_020354.5(ENTPD7):c.*4931G>T SNV Uncertain significance 879190 10:101469371-101469371 10:99709614-99709614 LGH007 Leigh Syndrome COX15 NM_020354.5(ENTPD7):c.*5113T>C SNV Uncertain significance 879192 10:101469553-101469553 10:99709796-99709796 LGH007 Leigh Syndrome COX15 NM_020354.5(ENTPD7):c.*5167G>A SNV Uncertain significance 880391 10:101469607-101469607 10:99709850-99709850 LGH007 Leigh Syndrome COX15 NM_020354.5(ENTPD7):c.*5261C>G SNV Uncertain significance 880392 10:101469701-101469701 10:99709944-99709944 LGH007 Leigh Syndrome COX15 NM_020354.5(ENTPD7):c.*5320C>G SNV Uncertain significance 880393 10:101469760-101469760 10:99710003-99710003 LGH007 Leigh Syndrome COX15 NM_020354.5(ENTPD7):c.*5520C>T SNV Uncertain significance 880394 10:101469960-101469960 10:99710203-99710203 LGH007 Leigh Syndrome COX15 NM_020354.5(ENTPD7):c.*6030G>A SNV Uncertain significance 877633 10:101470470-101470470 10:99710713-99710713 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*3638C>T SNV Uncertain significance 877634 10:101470706-101470706 10:99710949-99710949 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*3362T>C SNV Uncertain significance 878643 10:101470982-101470982 10:99711225-99711225 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*2959G>C SNV Uncertain significance 878644 10:101471385-101471385 10:99711628-99711628 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*2850A>G SNV Uncertain significance 878645 10:101471494-101471494 10:99711737-99711737 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*2839G>T SNV Uncertain significance 878646 10:101471505-101471505 10:99711748-99711748 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*2745T>G SNV Uncertain significance 879242 10:101471599-101471599 10:99711842-99711842 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.832+9C>T SNV Uncertain significance 880477 10:101480735-101480735 10:99720978-99720978 LGH007 Leigh Syndrome NDUFV1 NC_000011.10:g.67606846G>T SNV Uncertain significance 880116 11:67374317-67374317 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.1308+7A>T SNV Uncertain significance 878453 11:67379743-67379743 11:67612272-67612272 LGH007 Leigh Syndrome NDUFS8 NM_002496.4(NDUFS8):c.269C>T (p.Pro90Leu) SNV Uncertain significance 882092 11:67800647-67800647 11:68033180-68033180 LGH007 Leigh Syndrome NDUFS8 NM_002496.4(NDUFS8):c.574G>A (p.Gly192Arg) SNV Uncertain significance 884038 11:67804001-67804001 11:68036534-68036534 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.*731A>G SNV Uncertain significance 891558 17:10583705-10583705 17:10680388-10680388 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.*526T>C SNV Uncertain significance 891822 17:10583910-10583910 17:10680593-10680593 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.*326C>T SNV Uncertain significance 889379 17:10584110-10584110 17:10680793-10680793 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*1591C>T SNV Uncertain significance 878693 10:101472753-101472753 10:99712996-99712996 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*1590A>C SNV Uncertain significance 878694 10:101472754-101472754 10:99712997-99712997 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*1362G>A SNV Uncertain significance 878695 10:101472982-101472982 10:99713225-99713225 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*1349A>C SNV Uncertain significance 878696 10:101472995-101472995 10:99713238-99713238 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*1242A>G SNV Uncertain significance 878697 10:101473102-101473102 10:99713345-99713345 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.841G>A (p.Val281Met) SNV Uncertain significance 880476 10:101478249-101478249 10:99718492-99718492 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.665G>A (p.Arg222His) SNV Uncertain significance 880478 10:101483798-101483798 10:99724041-99724041 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.495G>T (p.Leu165=) SNV Uncertain significance 880479 10:101486812-101486812 10:99727055-99727055 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.293C>T (p.Ser98Leu) SNV Uncertain significance 877711 10:101487300-101487300 10:99727543-99727543 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.84A>G (p.Arg28=) SNV Uncertain significance 877712 10:101491723-101491723 10:99731966-99731966 LGH007 Leigh Syndrome COX15 NC_000010.11:g.99732191T>G SNV Uncertain significance 878752 10:101491948-101491948 10:99732191-99732191 LGH007 Leigh Syndrome COX15 NC_000010.11:g.99732198C>A SNV Uncertain significance 878753 10:101491955-101491955 10:99732198-99732198 LGH007 Leigh Syndrome COX15 NM_015960.3(CUTC):c.-50C>G SNV Uncertain significance 879339 10:101492056-101492056 10:99732299-99732299 LGH007 Leigh Syndrome COX15 NM_015960.3(CUTC):c.-35A>C SNV Uncertain significance 879340 10:101492071-101492071 10:99732314-99732314 LGH007 Leigh Syndrome COX15 NM_015960.3(CUTC):c.61+226G>A SNV Uncertain significance 879698 10:101492392-101492392 10:99732635-99732635 LGH007 Leigh Syndrome COX15 NM_015960.3(CUTC):c.61+230C>T SNV Uncertain significance 879699 10:101492396-101492396 10:99732639-99732639 LGH007 Leigh Syndrome NDUFS3 NM_004551.3(NDUFS3):c.-15C>G SNV Uncertain significance 877751 11:47600629-47600629 11:47579077-47579077 LGH007 Leigh Syndrome NDUFS3 NM_004551.3(NDUFS3):c.34C>T (p.Arg12Cys) SNV Uncertain significance 877752 11:47600677-47600677 11:47579125-47579125 LGH007 Leigh Syndrome NDUFS3 NM_004551.3(NDUFS3):c.425G>A (p.Arg142His) SNV Uncertain significance 879372 11:47603683-47603683 11:47582131-47582131 LGH007 Leigh Syndrome NDUFS3 NM_004551.3(NDUFS3):c.737G>A (p.Arg246His) SNV Uncertain significance 879752 11:47605975-47605975 11:47584423-47584423 LGH007 Leigh Syndrome NDUFS3 NM_004551.3(NDUFS3):c.*32G>A SNV Uncertain significance 877791 11:47606065-47606065 11:47584513-47584513 LGH007 Leigh Syndrome NDUFS3 NM_004551.3(NDUFS3):c.*39C>T SNV Uncertain significance 878835 11:47606072-47606072 11:47584520-47584520 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.*81A>G SNV Uncertain significance 890644 17:10584355-10584355 17:10681038-10681038 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.*80A>G SNV Uncertain significance 890645 17:10584356-10584356 17:10681039-10681039 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.798G>C (p.Leu266Phe) SNV Uncertain significance 891883 17:10584544-10584544 17:10681227-10681227 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.724A>C (p.Arg242=) SNV Uncertain significance 891885 17:10590091-10590091 17:10686774-10686774 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.433C>T (p.His145Tyr) SNV Uncertain significance 890113 17:10596210-10596210 17:10692893-10692893 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.393C>T (p.Ile131=) SNV Uncertain significance 890114 17:10596250-10596250 17:10692933-10692933 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.153G>T (p.Ala51=) SNV Uncertain significance 889501 17:10600672-10600672 17:10697355-10697355 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.140G>A (p.Arg47Gln) SNV Uncertain significance 889502 17:10600685-10600685 17:10697368-10697368 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.33T>C (p.Val11=) SNV Uncertain significance 889503 17:10600792-10600792 17:10697475-10697475 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.29G>T (p.Arg10Leu) SNV Uncertain significance 889504 17:10600796-10600796 17:10697479-10697479 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.16C>T (p.Leu6=) SNV Uncertain significance 890167 17:10600809-10600809 17:10697492-10697492 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.2T>C (p.Met1Thr) SNV Uncertain significance 890748 17:10600823-10600823 17:10697506-10697506 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.-89G>C SNV Uncertain significance 891985 17:13972834-13972834 17:14069517-14069517 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.-89G>T SNV Uncertain significance 889563 17:13972834-13972834 17:14069517-14069517 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.736C>T (p.Pro246Ser) SNV Uncertain significance 890834 17:14095346-14095346 17:14192029-14192029 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.870G>A (p.Val290=) SNV Uncertain significance 890835 17:14095480-14095480 17:14192163-14192163 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.1169C>T (p.Ala390Val) SNV Uncertain significance 888614 17:14110367-14110367 17:14207050-14207050 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.1305C>T (p.Gly435=) SNV Uncertain significance 888615 17:14110503-14110503 17:14207186-14207186 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*144T>C SNV Uncertain significance 890315 17:14110674-14110674 17:14207357-14207357 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*305A>G SNV Uncertain significance 890316 17:14110835-14110835 17:14207518-14207518 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*485G>A SNV Uncertain significance 892116 17:14111015-14111015 17:14207698-14207698 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*539C>A SNV Uncertain significance 892117 17:14111069-14111069 17:14207752-14207752 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*628C>T SNV Uncertain significance 888669 17:14111158-14111158 17:14207841-14207841 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*653G>A SNV Uncertain significance 888670 17:14111183-14111183 17:14207866-14207866 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*720G>A SNV Uncertain significance 890373 17:14111250-14111250 17:14207933-14207933 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*859G>T SNV Uncertain significance 890933 17:14111389-14111389 17:14208072-14208072 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*894G>T SNV Uncertain significance 890934 17:14111424-14111424 17:14208107-14208107 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9981T>G SNV Uncertain significance 693256 MT:9981-9981 MT:9981-9981 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9984G>A SNV Uncertain significance 693257 MT:9984-9984 MT:9984-9984 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9987T>C SNV Uncertain significance 693258 MT:9987-9987 MT:9987-9987 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9911C>A SNV Uncertain significance 693247 MT:9911-9911 MT:9911-9911 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9939G>A SNV Uncertain significance 693250 MT:9939-9939 MT:9939-9939 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9966G>C SNV Uncertain significance 693253 MT:9966-9966 MT:9966-9966 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9967T>C SNV Uncertain significance 693254 MT:9967-9967 MT:9967-9967 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.583C>T (p.Arg195Trp) SNV Uncertain significance 855207 5:226124-226124 5:226009-226009 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.804G>C (p.Arg268Ser) SNV Uncertain significance 854292 9:136218945-136218945 9:133352090-133352090 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.591T>A (p.Ile197=) SNV Uncertain significance 856179 9:136219461-136219461 9:133352606-133352606 LGH007 Leigh Syndrome NDUFA12 NM_018838.5(NDUFA12):c.121dup (p.Glu41fs) duplication Uncertain significance 813938 12:95396562-95396563 12:95002786-95002787 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.1235C>T (p.Pro412Leu) SNV Uncertain significance 801857 2:207006692-207006692 2:206141968-206141968 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.689C>A (p.Ala230Asp) SNV Uncertain significance 801858 2:207011675-207011675 2:206146951-206146951 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9685T>C SNV Uncertain significance 693206 MT:9685-9685 MT:9685-9685 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9699A>G SNV Uncertain significance 693207 MT:9699-9699 MT:9699-9699 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9700T>C SNV Uncertain significance 693208 MT:9700-9700 MT:9700-9700 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9705A>G SNV Uncertain significance 693209 MT:9705-9705 MT:9705-9705 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9706T>C SNV Uncertain significance 693210 MT:9706-9706 MT:9706-9706 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9751T>G SNV Uncertain significance 693216 MT:9751-9751 MT:9751-9751 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9752C>A SNV Uncertain significance 693217 MT:9752-9752 MT:9752-9752 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9753G>A SNV Uncertain significance 693218 MT:9753-9753 MT:9753-9753 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9753G>C SNV Uncertain significance 693219 MT:9753-9753 MT:9753-9753 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9765A>G SNV Uncertain significance 693223 MT:9765-9765 MT:9765-9765 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9769T>C SNV Uncertain significance 693224 MT:9769-9769 MT:9769-9769 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9802T>C SNV Uncertain significance 693228 MT:9802-9802 MT:9802-9802 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9804G>C SNV Uncertain significance 693229 MT:9804-9804 MT:9804-9804 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9804G>T SNV Uncertain significance 693230 MT:9804-9804 MT:9804-9804 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9813T>C SNV Uncertain significance 693231 MT:9813-9813 MT:9813-9813 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9819G>A SNV Uncertain significance 693232 MT:9819-9819 MT:9819-9819 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9820G>A SNV Uncertain significance 693233 MT:9820-9820 MT:9820-9820 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9822C>T SNV Uncertain significance 693234 MT:9822-9822 MT:9822-9822 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9828G>A SNV Uncertain significance 693235 MT:9828-9828 MT:9828-9828 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9837G>A SNV Uncertain significance 693236 MT:9837-9837 MT:9837-9837 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9838G>A SNV Uncertain significance 693237 MT:9838-9838 MT:9838-9838 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9786G>A SNV Uncertain significance 693226 MT:9786-9786 MT:9786-9786 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9844C>T SNV Uncertain significance 693239 MT:9844-9844 MT:9844-9844 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9868G>A SNV Uncertain significance 693244 MT:9868-9868 MT:9868-9868 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9140C>T SNV Uncertain significance 693108 MT:9140-9140 MT:9140-9140 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9104T>C SNV Uncertain significance 693094 MT:9104-9104 MT:9104-9104 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9106A>G SNV Uncertain significance 693095 MT:9106-9106 MT:9106-9106 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9122T>G SNV Uncertain significance 693099 MT:9122-9122 MT:9122-9122 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9125C>T SNV Uncertain significance 693100 MT:9125-9125 MT:9125-9125 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9167T>C SNV Uncertain significance 693114 MT:9167-9167 MT:9167-9167 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9169A>G SNV Uncertain significance 693115 MT:9169-9169 MT:9169-9169 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9170C>T SNV Uncertain significance 693116 MT:9170-9170 MT:9170-9170 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9179T>C SNV Uncertain significance 693117 MT:9179-9179 MT:9179-9179 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9160T>C SNV Uncertain significance 693112 MT:9160-9160 MT:9160-9160 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9188A>G SNV Uncertain significance 693120 MT:9188-9188 MT:9188-9188 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9194A>G SNV Uncertain significance 693121 MT:9194-9194 MT:9194-9194 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9202A>G SNV Uncertain significance 693123 MT:9202-9202 MT:9202-9202 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9205T>C SNV Uncertain significance 693124 MT:9205-9205 MT:9205-9205 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9133G>A SNV Uncertain significance 693104 MT:9133-9133 MT:9133-9133 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9217A>G SNV Uncertain significance 693128 MT:9217-9217 MT:9217-9217 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9219T>G SNV Uncertain significance 693129 MT:9219-9219 MT:9219-9219 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9047T>C SNV Uncertain significance 693063 MT:9047-9047 MT:9047-9047 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9058A>C SNV Uncertain significance 693070 MT:9058-9058 MT:9058-9058 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9070T>C SNV Uncertain significance 693073 MT:9070-9070 MT:9070-9070 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9073A>C SNV Uncertain significance 693076 MT:9073-9073 MT:9073-9073 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9082C>T SNV Uncertain significance 693080 MT:9082-9082 MT:9082-9082 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9085C>A SNV Uncertain significance 693082 MT:9085-9085 MT:9085-9085 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9086C>T SNV Uncertain significance 693083 MT:9086-9086 MT:9086-9086 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9099C>A SNV Uncertain significance 693090 MT:9099-9099 MT:9099-9099 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9247G>A SNV Uncertain significance 693131 MT:9247-9247 MT:9247-9247 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9261A>G SNV Uncertain significance 693132 MT:9261-9261 MT:9261-9261 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9265G>A SNV Uncertain significance 693133 MT:9265-9265 MT:9265-9265 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9267G>A SNV Uncertain significance 693134 MT:9267-9267 MT:9267-9267 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9294G>A SNV Uncertain significance 693140 MT:9294-9294 MT:9294-9294 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9304T>C SNV Uncertain significance 693143 MT:9304-9304 MT:9304-9304 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9309T>C SNV Uncertain significance 693144 MT:9309-9309 MT:9309-9309 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9319A>G SNV Uncertain significance 693146 MT:9319-9319 MT:9319-9319 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9327A>C SNV Uncertain significance 693149 MT:9327-9327 MT:9327-9327 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9331T>C SNV Uncertain significance 693151 MT:9331-9331 MT:9331-9331 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9342G>A SNV Uncertain significance 693154 MT:9342-9342 MT:9342-9342 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9357A>G SNV Uncertain significance 693156 MT:9357-9357 MT:9357-9357 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9367T>C SNV Uncertain significance 693157 MT:9367-9367 MT:9367-9367 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9387G>A SNV Uncertain significance 693158 MT:9387-9387 MT:9387-9387 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9390A>G SNV Uncertain significance 693159 MT:9390-9390 MT:9390-9390 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9405T>C SNV Uncertain significance 693161 MT:9405-9405 MT:9405-9405 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9439G>A SNV Uncertain significance 693162 MT:9439-9439 MT:9439-9439 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9445G>A SNV Uncertain significance 693163 MT:9445-9445 MT:9445-9445 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9456A>C SNV Uncertain significance 693166 MT:9456-9456 MT:9456-9456 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9477G>C SNV Uncertain significance 693170 MT:9477-9477 MT:9477-9477 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9478T>G SNV Uncertain significance 693171 MT:9478-9478 MT:9478-9478 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9480T>C SNV Uncertain significance 693172 MT:9480-9480 MT:9480-9480 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9481T>C SNV Uncertain significance 693173 MT:9481-9481 MT:9481-9481 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9484T>C SNV Uncertain significance 693174 MT:9484-9484 MT:9484-9484 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9508T>A SNV Uncertain significance 693178 MT:9508-9508 MT:9508-9508 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9549C>T SNV Uncertain significance 693181 MT:9549-9549 MT:9549-9549 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9564G>A SNV Uncertain significance 693182 MT:9564-9564 MT:9564-9564 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9577T>C SNV Uncertain significance 693184 MT:9577-9577 MT:9577-9577 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9580A>C SNV Uncertain significance 693185 MT:9580-9580 MT:9580-9580 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9582C>T SNV Uncertain significance 693186 MT:9582-9582 MT:9582-9582 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9588G>A SNV Uncertain significance 693187 MT:9588-9588 MT:9588-9588 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9631T>C SNV Uncertain significance 693194 MT:9631-9631 MT:9631-9631 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9636A>G SNV Uncertain significance 693196 MT:9636-9636 MT:9636-9636 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9637T>C SNV Uncertain significance 693197 MT:9637-9637 MT:9637-9637 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9652A>G SNV Uncertain significance 693198 MT:9652-9652 MT:9652-9652 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9654A>G SNV Uncertain significance 693199 MT:9654-9654 MT:9654-9654 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7751T>G SNV Uncertain significance 692769 MT:7751-7751 MT:7751-7751 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7686T>C SNV Uncertain significance 692760 MT:7686-7686 MT:7686-7686 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7806T>C SNV Uncertain significance 692780 MT:7806-7806 MT:7806-7806 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7811A>G SNV Uncertain significance 692782 MT:7811-7811 MT:7811-7811 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7814G>A SNV Uncertain significance 692783 MT:7814-7814 MT:7814-7814 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7608G>A SNV Uncertain significance 692750 MT:7608-7608 MT:7608-7608 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7628C>A SNV Uncertain significance 692751 MT:7628-7628 MT:7628-7628 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7632T>C SNV Uncertain significance 692752 MT:7632-7632 MT:7632-7632 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7431T>C SNV Uncertain significance 692744 MT:7431-7431 MT:7431-7431 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7650C>T SNV Uncertain significance 692754 MT:7650-7650 MT:7650-7650 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7664G>T SNV Uncertain significance 692755 MT:7664-7664 MT:7664-7664 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7698T>C SNV Uncertain significance 692763 MT:7698-7698 MT:7698-7698 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7706G>A SNV Uncertain significance 692764 MT:7706-7706 MT:7706-7706 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7713T>C SNV Uncertain significance 692765 MT:7713-7713 MT:7713-7713 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7718A>G SNV Uncertain significance 692766 MT:7718-7718 MT:7718-7718 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7868C>T SNV Uncertain significance 692791 MT:7868-7868 MT:7868-7868 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7874A>G SNV Uncertain significance 692792 MT:7874-7874 MT:7874-7874 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7898T>C SNV Uncertain significance 692793 MT:7898-7898 MT:7898-7898 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7904A>G SNV Uncertain significance 692794 MT:7904-7904 MT:7904-7904 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7919G>A SNV Uncertain significance 692795 MT:7919-7919 MT:7919-7919 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7922T>C SNV Uncertain significance 692796 MT:7922-7922 MT:7922-7922 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7925G>A SNV Uncertain significance 692797 MT:7925-7925 MT:7925-7925 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7926G>A SNV Uncertain significance 692798 MT:7926-7926 MT:7926-7926 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7844A>T SNV Uncertain significance 692786 MT:7844-7844 MT:7844-7844 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7833T>C SNV Uncertain significance 692785 MT:7833-7833 MT:7833-7833 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7943T>C SNV Uncertain significance 692801 MT:7943-7943 MT:7943-7943 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7962T>C SNV Uncertain significance 692802 MT:7962-7962 MT:7962-7962 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7976G>A SNV Uncertain significance 692804 MT:7976-7976 MT:7976-7976 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7980A>G SNV Uncertain significance 692805 MT:7980-7980 MT:7980-7980 LGH007 Leigh Syndrome COX2 NC_012920.1:m.8001A>G SNV Uncertain significance 692806 MT:8001-8001 MT:8001-8001 LGH007 Leigh Syndrome COX2 NC_012920.1:m.8010T>C SNV Uncertain significance 692807 MT:8010-8010 MT:8010-8010 LGH007 Leigh Syndrome COX2 NC_012920.1:m.8012G>A SNV Uncertain significance 692808 MT:8012-8012 MT:8012-8012 LGH007 Leigh Syndrome COX2 NC_012920.1:m.8030C>T SNV Uncertain significance 692813 MT:8030-8030 MT:8030-8030 LGH007 Leigh Syndrome COX2 NC_012920.1:m.8033A>G SNV Uncertain significance 692814 MT:8033-8033 MT:8033-8033 LGH007 Leigh Syndrome COX2 NC_012920.1:m.8060G>A SNV Uncertain significance 692815 MT:8060-8060 MT:8060-8060 LGH007 Leigh Syndrome COX2 NC_012920.1:m.8069T>C SNV Uncertain significance 692816 MT:8069-8069 MT:8069-8069 LGH007 Leigh Syndrome COX2 NC_012920.1:m.8135T>C SNV Uncertain significance 692822 MT:8135-8135 MT:8135-8135 LGH007 Leigh Syndrome COX2 NC_012920.1:m.8141G>A SNV Uncertain significance 692823 MT:8141-8141 MT:8141-8141 LGH007 Leigh Syndrome COX2 NC_012920.1:m.8187G>A SNV Uncertain significance 692824 MT:8187-8187 MT:8187-8187 LGH007 Leigh Syndrome COX2 NC_012920.1:m.8210A>G SNV Uncertain significance 692825 MT:8210-8210 MT:8210-8210 LGH007 Leigh Syndrome COX2 NC_012920.1:m.8225A>G SNV Uncertain significance 692826 MT:8225-8225 MT:8225-8225 LGH007 Leigh Syndrome COX2 NC_012920.1:m.8238T>C SNV Uncertain significance 692828 MT:8238-8238 MT:8238-8238 LGH007 Leigh Syndrome COX2 NC_012920.1:m.8252C>T SNV Uncertain significance 692829 MT:8252-8252 MT:8252-8252 LGH007 Leigh Syndrome COX2 NC_012920.1:m.8265T>C SNV Uncertain significance 692832 MT:8265-8265 MT:8265-8265 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8369C>T SNV Uncertain significance 692833 MT:8369-8369 MT:8369-8369 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8373A>G SNV Uncertain significance 692834 MT:8373-8373 MT:8373-8373 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8373A>T SNV Uncertain significance 692835 MT:8373-8373 MT:8373-8373 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8379A>G SNV Uncertain significance 692836 MT:8379-8379 MT:8379-8379 LGH007 Leigh Syndrome COX2 NC_012920.1:m.8079T>C SNV Uncertain significance 692819 MT:8079-8079 MT:8079-8079 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8381A>T SNV Uncertain significance 692838 MT:8381-8381 MT:8381-8381 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8394C>T SNV Uncertain significance 692841 MT:8394-8394 MT:8394-8394 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8397C>G SNV Uncertain significance 692843 MT:8397-8397 MT:8397-8397 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8411A>C SNV Uncertain significance 692847 MT:8411-8411 MT:8411-8411 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8411A>G SNV Uncertain significance 692848 MT:8411-8411 MT:8411-8411 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8412T>C SNV Uncertain significance 692849 MT:8412-8412 MT:8412-8412 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8415T>C SNV Uncertain significance 692851 MT:8415-8415 MT:8415-8415 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8403T>C SNV Uncertain significance 692845 MT:8403-8403 MT:8403-8403 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8430T>C SNV Uncertain significance 692855 MT:8430-8430 MT:8430-8430 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8435A>T SNV Uncertain significance 692857 MT:8435-8435 MT:8435-8435 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8466A>G SNV Uncertain significance 692866 MT:8466-8466 MT:8466-8466 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8469T>C SNV Uncertain significance 692867 MT:8469-8469 MT:8469-8469 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8474C>T SNV Uncertain significance 692870 MT:8474-8474 MT:8474-8474 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8480C>T SNV Uncertain significance 692873 MT:8480-8480 MT:8480-8480 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8481C>T SNV Uncertain significance 692874 MT:8481-8481 MT:8481-8481 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8502A>T SNV Uncertain significance 692879 MT:8502-8502 MT:8502-8502 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8514C>T SNV Uncertain significance 692883 MT:8514-8514 MT:8514-8514 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8550A>G SNV Uncertain significance 692896 MT:8550-8550 MT:8550-8550 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8550A>G SNV Uncertain significance 692896 MT:8550-8550 MT:8550-8550 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8785C>G SNV Uncertain significance 692985 MT:8785-8785 MT:8785-8785 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8785C>T SNV Uncertain significance 692984 MT:8785-8785 MT:8785-8785 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8789T>C SNV Uncertain significance 692986 MT:8789-8789 MT:8789-8789 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8761A>C SNV Uncertain significance 692976 MT:8761-8761 MT:8761-8761 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8728T>C SNV Uncertain significance 692967 MT:8728-8728 MT:8728-8728 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8731T>A SNV Uncertain significance 692968 MT:8731-8731 MT:8731-8731 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8735T>C SNV Uncertain significance 692969 MT:8735-8735 MT:8735-8735 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8737A>G SNV Uncertain significance 692970 MT:8737-8737 MT:8737-8737 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8744T>C SNV Uncertain significance 692971 MT:8744-8744 MT:8744-8744 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8746T>C SNV Uncertain significance 692972 MT:8746-8746 MT:8746-8746 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8697G>T SNV Uncertain significance 692952 MT:8697-8697 MT:8697-8697 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8699T>C SNV Uncertain significance 692953 MT:8699-8699 MT:8699-8699 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8700A>T SNV Uncertain significance 692954 MT:8700-8700 MT:8700-8700 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8714C>T SNV Uncertain significance 692960 MT:8714-8714 MT:8714-8714 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8720G>A SNV Uncertain significance 692963 MT:8720-8720 MT:8720-8720 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8720G>C SNV Uncertain significance 692962 MT:8720-8720 MT:8720-8720 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8722C>T SNV Uncertain significance 692964 MT:8722-8722 MT:8722-8722 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8568C>A SNV Uncertain significance 692906 MT:8568-8568 MT:8568-8568 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8568C>A SNV Uncertain significance 692906 MT:8568-8568 MT:8568-8568 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8576T>C SNV Uncertain significance 692909 MT:8576-8576 MT:8576-8576 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8591T>C SNV Uncertain significance 692915 MT:8591-8591 MT:8591-8591 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8593A>G SNV Uncertain significance 692916 MT:8593-8593 MT:8593-8593 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8605C>T SNV Uncertain significance 692922 MT:8605-8605 MT:8605-8605 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8609C>T SNV Uncertain significance 692923 MT:8609-8609 MT:8609-8609 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8612T>C SNV Uncertain significance 692924 MT:8612-8612 MT:8612-8612 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8615T>C SNV Uncertain significance 692925 MT:8615-8615 MT:8615-8615 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8599C>A SNV Uncertain significance 692919 MT:8599-8599 MT:8599-8599 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8623A>C SNV Uncertain significance 692928 MT:8623-8623 MT:8623-8623 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8623A>T SNV Uncertain significance 692930 MT:8623-8623 MT:8623-8623 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8641A>G SNV Uncertain significance 692937 MT:8641-8641 MT:8641-8641 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8642A>C SNV Uncertain significance 692939 MT:8642-8642 MT:8642-8642 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8782G>A SNV Uncertain significance 692982 MT:8782-8782 MT:8782-8782 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8800T>G SNV Uncertain significance 692988 MT:8800-8800 MT:8800-8800 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8812A>T SNV Uncertain significance 692991 MT:8812-8812 MT:8812-8812 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8821T>C SNV Uncertain significance 692992 MT:8821-8821 MT:8821-8821 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8824A>G SNV Uncertain significance 692993 MT:8824-8824 MT:8824-8824 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8825T>C SNV Uncertain significance 692994 MT:8825-8825 MT:8825-8825 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8840C>T SNV Uncertain significance 692997 MT:8840-8840 MT:8840-8840 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8844C>A SNV Uncertain significance 693001 MT:8844-8844 MT:8844-8844 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8863G>A SNV Uncertain significance 693005 MT:8863-8863 MT:8863-8863 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8868T>A SNV Uncertain significance 693008 MT:8868-8868 MT:8868-8868 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8873G>C SNV Uncertain significance 693011 MT:8873-8873 MT:8873-8873 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8879G>A SNV Uncertain significance 693013 MT:8879-8879 MT:8879-8879 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8920G>A SNV Uncertain significance 693022 MT:8920-8920 MT:8920-8920 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8921G>A SNV Uncertain significance 693023 MT:8921-8921 MT:8921-8921 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8933C>T SNV Uncertain significance 693026 MT:8933-8933 MT:8933-8933 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8935C>T SNV Uncertain significance 693027 MT:8935-8935 MT:8935-8935 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8936T>C SNV Uncertain significance 693028 MT:8936-8936 MT:8936-8936 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8906A>C SNV Uncertain significance 693019 MT:8906-8906 MT:8906-8906 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8941C>T SNV Uncertain significance 693031 MT:8941-8941 MT:8941-8941 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8951T>C SNV Uncertain significance 693033 MT:8951-8951 MT:8951-8951 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8953A>G SNV Uncertain significance 693034 MT:8953-8953 MT:8953-8953 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8954T>C SNV Uncertain significance 693035 MT:8954-8954 MT:8954-8954 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8959G>A SNV Uncertain significance 693036 MT:8959-8959 MT:8959-8959 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8972T>C SNV Uncertain significance 693039 MT:8972-8972 MT:8972-8972 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9005T>C SNV Uncertain significance 693050 MT:9005-9005 MT:9005-9005 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9014A>G SNV Uncertain significance 693054 MT:9014-9014 MT:9014-9014 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9019A>G SNV Uncertain significance 693056 MT:9019-9019 MT:9019-9019 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9026G>A SNV Uncertain significance 693058 MT:9026-9026 MT:9026-9026 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9028C>T SNV Uncertain significance 693059 MT:9028-9028 MT:9028-9028 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9029A>G SNV Uncertain significance 693060 MT:9029-9029 MT:9029-9029 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*1693G>A SNV Likely benign 298405 rs74981084 10:101472651-101472651 10:99712894-99712894 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*1197T>C SNV Likely benign 298411 rs149696723 10:101473147-101473147 10:99713390-99713390 LGH007 Leigh Syndrome COX15 NM_020354.5(ENTPD7):c.*5070A>G SNV Likely benign 298373 rs73345141 10:101469510-101469510 10:99709753-99709753 LGH007 Leigh Syndrome COX15 NM_020354.5(ENTPD7):c.*6091A>C SNV Likely benign 298383 rs80332976 10:101470531-101470531 10:99710774-99710774 LGH007 Leigh Syndrome COX15 NM_020354.5(ENTPD7):c.*4513G>A SNV Likely benign 298367 rs138423739 10:101468953-101468953 10:99709196-99709196 LGH007 Leigh Syndrome COX15 NM_020354.5(ENTPD7):c.*4258A>G SNV Likely benign 298362 rs10490941 10:101468698-101468698 10:99708941-99708941 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.929-9_929-7dup duplication Likely benign 321817 rs144296730 17:14110115-14110116 17:14206798-14206799 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.*256C>T SNV Likely benign 333775 rs10198830 2:206988653-206988653 2:206123929-206123929 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.*846del deletion Likely benign 333765 rs58253838 2:206988063-206988063 2:206123339-206123339 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1923_*1924insA insertion Likely benign 335175 rs138899326 2:240898611-240898612 2:239959194-239959195 LGH007 Leigh Syndrome SDHA NM_001294332.1(SDHA):c.-84dup duplication Likely benign 353198 rs35805262 5:218381-218382 5:218266-218267 LGH007 Leigh Syndrome NDUFS4 NM_002495.4(NDUFS4):c.424+19dup duplication Likely benign 353891 rs140172554 5:52954468-52954469 5:53658638-53658639 LGH007 Leigh Syndrome SDHA NM_001294332.1(SDHA):c.-115T>C SNV Likely benign 353197 rs2303741 5:218356-218356 5:218241-218241 LGH007 Leigh Syndrome COX2 NC_012920.1:m.8084A>G SNV Likely benign 373996 rs1057518824 MT:8084-8084 MT:8084-8084 LGH007 Leigh Syndrome GAMT NM_000156.6(GAMT):c.*276C>T SNV Likely benign 328344 rs266810 19:1397082-1397082 19:1397083-1397083 LGH007 Leigh Syndrome NDUFS7 NM_000156.6(GAMT):c.*276C>T SNV Likely benign 328344 rs266810 19:1397082-1397082 19:1397083-1397083 LGH007 Leigh Syndrome GAMT NM_000156.6(GAMT):c.*311C>G SNV Likely benign 328343 rs266811 19:1397047-1397047 19:1397048-1397048 LGH007 Leigh Syndrome NDUFS7 NM_000156.6(GAMT):c.*311C>G SNV Likely benign 328343 rs266811 19:1397047-1397047 19:1397048-1397048 LGH007 Leigh Syndrome GAMT NM_000156.6(GAMT):c.*151T>C SNV Likely benign 328345 rs659460 19:1397207-1397207 19:1397208-1397208 LGH007 Leigh Syndrome NDUFS7 NM_000156.6(GAMT):c.*151T>C SNV Likely benign 328345 rs659460 19:1397207-1397207 19:1397208-1397208 LGH007 Leigh Syndrome SCO1 NM_004589.3(SCO1):c.-71G>T SNV Likely benign 369144 rs2520169 17:10600895-10600895 17:10697578-10697578 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9016A>G SNV Likely benign 693055 MT:9016-9016 MT:9016-9016 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9007A>T SNV Likely benign 693052 MT:9007-9007 MT:9007-9007 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9010G>A SNV Likely benign 693053 MT:9010-9010 MT:9010-9010 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8939T>C SNV Likely benign 693030 MT:8939-8939 MT:8939-8939 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8966T>C SNV Likely benign 693038 MT:8966-8966 MT:8966-8966 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8981A>G SNV Likely benign 693043 MT:8981-8981 MT:8981-8981 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8986A>G SNV Likely benign 693044 MT:8986-8986 MT:8986-8986 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8987T>C SNV Likely benign 693045 MT:8987-8987 MT:8987-8987 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8989G>A SNV Likely benign 693046 MT:8989-8989 MT:8989-8989 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8974C>G SNV Likely benign 693040 MT:8974-8974 MT:8974-8974 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8975T>C SNV Likely benign 693041 MT:8975-8975 MT:8975-8975 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8944A>G SNV Likely benign 693032 MT:8944-8944 MT:8944-8944 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8908T>C SNV Likely benign 693020 MT:8908-8908 MT:8908-8908 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8923A>G SNV Likely benign 693024 MT:8923-8923 MT:8923-8923 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8930C>T SNV Likely benign 693025 MT:8930-8930 MT:8930-8930 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8888T>C SNV Likely benign 693015 MT:8888-8888 MT:8888-8888 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8895T>A SNV Likely benign 693016 MT:8895-8895 MT:8895-8895 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8842A>C SNV Likely benign 692998 MT:8842-8842 MT:8842-8842 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8803A>G SNV Likely benign 692989 MT:8803-8803 MT:8803-8803 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7941A>G SNV Likely benign 692800 MT:7941-7941 MT:7941-7941 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8635C>T SNV Likely benign 692934 MT:8635-8635 MT:8635-8635 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8638A>G SNV Likely benign 692935 MT:8638-8638 MT:8638-8638 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8648G>A SNV Likely benign 692940 MT:8648-8648 MT:8648-8648 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8656A>G SNV Likely benign 692943 MT:8656-8656 MT:8656-8656 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8657C>T SNV Likely benign 692944 MT:8657-8657 MT:8657-8657 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8624C>T SNV Likely benign 692931 MT:8624-8624 MT:8624-8624 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8626T>C SNV Likely benign 692932 MT:8626-8626 MT:8626-8626 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8623A>G SNV Likely benign 692929 MT:8623-8623 MT:8623-8623 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8617A>G SNV Likely benign 692926 MT:8617-8617 MT:8617-8617 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8596A>G SNV Likely benign 692917 MT:8596-8596 MT:8596-8596 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8597T>C SNV Likely benign 692918 MT:8597-8597 MT:8597-8597 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8554A>G SNV Likely benign 692899 MT:8554-8554 MT:8554-8554 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8554A>G SNV Likely benign 692899 MT:8554-8554 MT:8554-8554 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8666A>G SNV Likely benign 692946 MT:8666-8666 MT:8666-8666 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8711A>G SNV Likely benign 692958 MT:8711-8711 MT:8711-8711 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8713A>G SNV Likely benign 692959 MT:8713-8713 MT:8713-8713 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8679A>C SNV Likely benign 692948 MT:8679-8679 MT:8679-8679 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8750T>C SNV Likely benign 692973 MT:8750-8750 MT:8750-8750 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8765C>T SNV Likely benign 692979 MT:8765-8765 MT:8765-8765 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8767A>G SNV Likely benign 692980 MT:8767-8767 MT:8767-8767 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8551T>C SNV Likely benign 692897 MT:8551-8551 MT:8551-8551 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8551T>C SNV Likely benign 692897 MT:8551-8551 MT:8551-8551 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8547T>C SNV Likely benign 692894 MT:8547-8547 MT:8547-8547 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8547T>C SNV Likely benign 692894 MT:8547-8547 MT:8547-8547 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8557G>C SNV Likely benign 692901 MT:8557-8557 MT:8557-8557 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8557G>C SNV Likely benign 692901 MT:8557-8557 MT:8557-8557 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8516T>C SNV Likely benign 692884 MT:8516-8516 MT:8516-8516 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8520A>G SNV Likely benign 692885 MT:8520-8520 MT:8520-8520 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8530A>G SNV Likely benign 692887 MT:8530-8530 MT:8530-8530 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8530A>G SNV Likely benign 692887 MT:8530-8530 MT:8530-8530 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8531A>G SNV Likely benign 692888 MT:8531-8531 MT:8531-8531 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8531A>G SNV Likely benign 692888 MT:8531-8531 MT:8531-8531 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8533G>A SNV Likely benign 692889 MT:8533-8533 MT:8533-8533 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8533G>A SNV Likely benign 692889 MT:8533-8533 MT:8533-8533 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8507A>G SNV Likely benign 692881 MT:8507-8507 MT:8507-8507 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8489A>G SNV Likely benign 692875 MT:8489-8489 MT:8489-8489 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8461C>A SNV Likely benign 692863 MT:8461-8461 MT:8461-8461 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8471C>T SNV Likely benign 692868 MT:8471-8471 MT:8471-8471 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8453A>G SNV Likely benign 692860 MT:8453-8453 MT:8453-8453 LGH007 Leigh Syndrome COX2 NC_012920.1:m.8084A>T SNV Likely benign 692820 MT:8084-8084 MT:8084-8084 LGH007 Leigh Syndrome COX2 NC_012920.1:m.8256T>C SNV Likely benign 692830 MT:8256-8256 MT:8256-8256 LGH007 Leigh Syndrome COX2 NC_012920.1:m.8258T>C SNV Likely benign 692831 MT:8258-8258 MT:8258-8258 LGH007 Leigh Syndrome COX2 NC_012920.1:m.8075G>A SNV Likely benign 692817 MT:8075-8075 MT:8075-8075 LGH007 Leigh Syndrome COX2 NC_012920.1:m.8078G>A SNV Likely benign 692818 MT:8078-8078 MT:8078-8078 LGH007 Leigh Syndrome COX2 NC_012920.1:m.8021A>G SNV Likely benign 692809 MT:8021-8021 MT:8021-8021 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7674T>C SNV Likely benign 692758 MT:7674-7674 MT:7674-7674 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7432A>T SNV Likely benign 692745 MT:7432-7432 MT:7432-7432 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7649A>G SNV Likely benign 692753 MT:7649-7649 MT:7649-7649 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7808C>T SNV Likely benign 692781 MT:7808-7808 MT:7808-7808 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7784A>G SNV Likely benign 692775 MT:7784-7784 MT:7784-7784 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7785T>C SNV Likely benign 692776 MT:7785-7785 MT:7785-7785 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7796A>G SNV Likely benign 692777 MT:7796-7796 MT:7796-7796 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7797T>C SNV Likely benign 692778 MT:7797-7797 MT:7797-7797 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7761A>G SNV Likely benign 692772 MT:7761-7761 MT:7761-7761 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7772A>G SNV Likely benign 692773 MT:7772-7772 MT:7772-7772 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9660A>G SNV Likely benign 693200 MT:9660-9660 MT:9660-9660 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9663G>A SNV Likely benign 693201 MT:9663-9663 MT:9663-9663 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9633T>C SNV Likely benign 693195 MT:9633-9633 MT:9633-9633 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9301C>T SNV Likely benign 693142 MT:9301-9301 MT:9301-9301 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9630G>A SNV Likely benign 693193 MT:9630-9630 MT:9630-9630 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9592T>C SNV Likely benign 693189 MT:9592-9592 MT:9592-9592 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9571C>T SNV Likely benign 693183 MT:9571-9571 MT:9571-9571 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9525G>A SNV Likely benign 693179 MT:9525-9525 MT:9525-9525 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9489G>A SNV Likely benign 693175 MT:9489-9489 MT:9489-9489 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9490C>T SNV Likely benign 693176 MT:9490-9490 MT:9490-9490 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9456A>G SNV Likely benign 693165 MT:9456-9456 MT:9456-9456 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9327A>G SNV Likely benign 693150 MT:9327-9327 MT:9327-9327 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9270C>T SNV Likely benign 693135 MT:9270-9270 MT:9270-9270 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9276G>A SNV Likely benign 693136 MT:9276-9276 MT:9276-9276 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9285A>G SNV Likely benign 693137 MT:9285-9285 MT:9285-9285 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9286T>C SNV Likely benign 693138 MT:9286-9286 MT:9286-9286 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9095T>C SNV Likely benign 693086 MT:9095-9095 MT:9095-9095 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9079A>G SNV Likely benign 693078 MT:9079-9079 MT:9079-9079 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8999T>C SNV Likely benign 693049 MT:8999-8999 MT:8999-8999 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9038T>C SNV Likely benign 693062 MT:9038-9038 MT:9038-9038 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9234A>G SNV Likely benign 693130 MT:9234-9234 MT:9234-9234 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9214A>G SNV Likely benign 693127 MT:9214-9214 MT:9214-9214 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9071C>T SNV Likely benign 693075 MT:9071-9071 MT:9071-9071 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9130C>A SNV Likely benign 693103 MT:9130-9130 MT:9130-9130 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9856T>C SNV Likely benign 693242 MT:9856-9856 MT:9856-9856 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9862T>A SNV Likely benign 693243 MT:9862-9862 MT:9862-9862 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9843A>G SNV Likely benign 693238 MT:9843-9843 MT:9843-9843 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9739C>T SNV Likely benign 693214 MT:9739-9739 MT:9739-9739 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9751T>C SNV Likely benign 693215 MT:9751-9751 MT:9751-9751 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9754A>G SNV Likely benign 693220 MT:9754-9754 MT:9754-9754 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9717C>T SNV Likely benign 693211 MT:9717-9717 MT:9717-9717 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9727C>T SNV Likely benign 693212 MT:9727-9727 MT:9727-9727 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.855A>G (p.Thr285=) SNV Likely benign 761945 9:136218816-136218816 9:133351961-133351961 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9972A>G SNV Likely benign 693255 MT:9972-9972 MT:9972-9972 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9759C>T SNV Likely benign 693222 MT:9759-9759 MT:9759-9759 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9922C>T SNV Likely benign 693249 MT:9922-9922 MT:9922-9922 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.167G>A (p.Gly56Glu) SNV Likely benign 739626 17:10600658-10600658 17:10697341-10697341 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.*270T>A SNV Likely benign 890068 17:10584166-10584166 17:10680849-10680849 LGH007 Leigh Syndrome IARS2 NM_018060.4(IARS2):c.2122G>A (p.Glu708Lys) SNV Likely benign 156552 rs143722284 1:220311332-220311332 1:220137990-220137990 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15098A>G SNV Likely benign 143875 rs527236172 MT:15098-15098 MT:15098-15098 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15459C>T SNV Likely benign 143891 rs527236186 MT:15459-15459 MT:15459-15459 LGH007 Leigh Syndrome ND1 m.3308T>G SNV Likely benign 9729 rs28358582 MT:3308-3308 MT:3308-3308 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*1876A>G SNV Likely benign 877675 10:101472468-101472468 10:99712711-99712711 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4243A>G SNV Likely benign 692442 MT:4243-4243 MT:4243-4243 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4226T>C SNV Likely benign 692437 MT:4226-4226 MT:4226-4226 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4231A>G SNV Likely benign 692438 MT:4231-4231 MT:4231-4231 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4205T>C SNV Likely benign 692434 MT:4205-4205 MT:4205-4205 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4084G>A SNV Likely benign 692421 MT:4084-4084 MT:4084-4084 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4058C>T SNV Likely benign 692418 MT:4058-4058 MT:4058-4058 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4029C>A SNV Likely benign 692415 MT:4029-4029 MT:4029-4029 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3644T>C SNV Likely benign 692382 MT:3644-3644 MT:3644-3644 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3943A>G SNV Likely benign 692409 MT:3943-3943 MT:3943-3943 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3808A>G SNV Likely benign 692402 MT:3808-3808 MT:3808-3808 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3628A>T SNV Likely benign 692379 MT:3628-3628 MT:3628-3628 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3640G>A SNV Likely benign 692380 MT:3640-3640 MT:3640-3640 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3533C>T SNV Likely benign 692368 MT:3533-3533 MT:3533-3533 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3535T>A SNV Likely benign 692369 MT:3535-3535 MT:3535-3535 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3492A>C SNV Likely benign 692358 MT:3492-3492 MT:3492-3492 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3395A>G SNV Likely benign 692350 MT:3395-3395 MT:3395-3395 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3368T>C SNV Likely benign 692345 MT:3368-3368 MT:3368-3368 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3385A>G SNV Likely benign 692347 MT:3385-3385 MT:3385-3385 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3340C>T SNV Likely benign 692339 MT:3340-3340 MT:3340-3340 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3344T>C SNV Likely benign 692340 MT:3344-3344 MT:3344-3344 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15828C>T SNV Likely benign 693961 MT:15828-15828 MT:15828-15828 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15860A>T SNV Likely benign 693969 MT:15860-15860 MT:15860-15860 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15779T>C SNV Likely benign 693951 MT:15779-15779 MT:15779-15779 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15791A>G SNV Likely benign 693954 MT:15791-15791 MT:15791-15791 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15813T>G SNV Likely benign 693958 MT:15813-15813 MT:15813-15813 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15774T>C SNV Likely benign 693948 MT:15774-15774 MT:15774-15774 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15776A>G SNV Likely benign 693949 MT:15776-15776 MT:15776-15776 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15732C>T SNV Likely benign 693939 MT:15732-15732 MT:15732-15732 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15664C>A SNV Likely benign 693929 MT:15664-15664 MT:15664-15664 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15654T>C SNV Likely benign 693925 MT:15654-15654 MT:15654-15654 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15657T>C SNV Likely benign 693926 MT:15657-15657 MT:15657-15657 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15650G>A SNV Likely benign 693921 MT:15650-15650 MT:15650-15650 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15533A>G SNV Likely benign 693903 MT:15533-15533 MT:15533-15533 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15450T>C SNV Likely benign 693885 MT:15450-15450 MT:15450-15450 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15521G>A SNV Likely benign 693898 MT:15521-15521 MT:15521-15521 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15434C>T SNV Likely benign 693883 MT:15434-15434 MT:15434-15434 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15377A>G SNV Likely benign 693872 MT:15377-15377 MT:15377-15377 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15380A>G SNV Likely benign 693873 MT:15380-15380 MT:15380-15380 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15381C>T SNV Likely benign 693874 MT:15381-15381 MT:15381-15381 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15312T>C SNV Likely benign 693864 MT:15312-15312 MT:15312-15312 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15212A>G SNV Likely benign 693841 MT:15212-15212 MT:15212-15212 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15213T>C SNV Likely benign 693842 MT:15213-15213 MT:15213-15213 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14871T>C SNV Likely benign 693781 MT:14871-14871 MT:14871-14871 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15122A>G SNV Likely benign 693830 MT:15122-15122 MT:15122-15122 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15090T>C SNV Likely benign 693823 MT:15090-15090 MT:15090-15090 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15099T>C SNV Likely benign 693824 MT:15099-15099 MT:15099-15099 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15024G>C SNV Likely benign 693812 MT:15024-15024 MT:15024-15024 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14996G>A SNV Likely benign 693806 MT:14996-14996 MT:14996-14996 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14954A>G SNV Likely benign 693794 MT:14954-14954 MT:14954-14954 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5484A>G SNV Likely benign 692594 MT:5484-5484 MT:5484-5484 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5319A>T SNV Likely benign 692578 MT:5319-5319 MT:5319-5319 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5494T>G SNV Likely benign 692596 MT:5494-5494 MT:5494-5494 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5452C>T SNV Likely benign 692590 MT:5452-5452 MT:5452-5452 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5325A>T SNV Likely benign 692582 MT:5325-5325 MT:5325-5325 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5331C>G SNV Likely benign 692584 MT:5331-5331 MT:5331-5331 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5320C>T SNV Likely benign 692580 MT:5320-5320 MT:5320-5320 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5316G>A SNV Likely benign 692576 MT:5316-5316 MT:5316-5316 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5298A>G SNV Likely benign 692571 MT:5298-5298 MT:5298-5298 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5295C>T SNV Likely benign 692568 MT:5295-5295 MT:5295-5295 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5293G>A SNV Likely benign 692567 MT:5293-5293 MT:5293-5293 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5191C>T SNV Likely benign 692554 MT:5191-5191 MT:5191-5191 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5268A>G SNV Likely benign 692563 MT:5268-5268 MT:5268-5268 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5273A>T SNV Likely benign 692564 MT:5273-5273 MT:5273-5273 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5205T>C SNV Likely benign 692556 MT:5205-5205 MT:5205-5205 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5095T>C SNV Likely benign 692546 MT:5095-5095 MT:5095-5095 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5127A>G SNV Likely benign 692547 MT:5127-5127 MT:5127-5127 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5128A>G SNV Likely benign 692548 MT:5128-5128 MT:5128-5128 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5149C>T SNV Likely benign 692549 MT:5149-5149 MT:5149-5149 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5166A>G SNV Likely benign 692550 MT:5166-5166 MT:5166-5166 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5086C>T SNV Likely benign 692544 MT:5086-5086 MT:5086-5086 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4944A>G SNV Likely benign 692525 MT:4944-4944 MT:4944-4944 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5067A>G SNV Likely benign 692538 MT:5067-5067 MT:5067-5067 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5069A>T SNV Likely benign 692539 MT:5069-5069 MT:5069-5069 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5073A>G SNV Likely benign 692540 MT:5073-5073 MT:5073-5073 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4234A>G SNV Likely benign 692440 MT:4234-4234 MT:4234-4234 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4924G>C SNV Likely benign 692519 MT:4924-4924 MT:4924-4924 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4908C>T SNV Likely benign 692516 MT:4908-4908 MT:4908-4908 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4911T>G SNV Likely benign 692517 MT:4911-4911 MT:4911-4911 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4842A>G SNV Likely benign 692512 MT:4842-4842 MT:4842-4842 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4812G>A SNV Likely benign 692509 MT:4812-4812 MT:4812-4812 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4812G>C SNV Likely benign 692508 MT:4812-4812 MT:4812-4812 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4762T>C SNV Likely benign 692498 MT:4762-4762 MT:4762-4762 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4763C>A SNV Likely benign 692499 MT:4763-4763 MT:4763-4763 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4725A>C SNV Likely benign 692489 MT:4725-4725 MT:4725-4725 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4725A>T SNV Likely benign 692488 MT:4725-4725 MT:4725-4725 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4728A>G SNV Likely benign 692490 MT:4728-4728 MT:4728-4728 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4531C>T SNV Likely benign 692459 MT:4531-4531 MT:4531-4531 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4500T>C SNV Likely benign 692452 MT:4500-4500 MT:4500-4500 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4702A>G SNV Likely benign 692483 MT:4702-4702 MT:4702-4702 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4689A>G SNV Likely benign 692479 MT:4689-4689 MT:4689-4689 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4654C>T SNV Likely benign 692472 MT:4654-4654 MT:4654-4654 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4612T>C SNV Likely benign 692467 MT:4612-4612 MT:4612-4612 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6252A>G SNV Likely benign 692630 MT:6252-6252 MT:6252-6252 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6126A>G SNV Likely benign 692622 MT:6126-6126 MT:6126-6126 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6081G>A SNV Likely benign 692617 MT:6081-6081 MT:6081-6081 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6060A>G SNV Likely benign 692613 MT:6060-6060 MT:6060-6060 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6052A>G SNV Likely benign 692611 MT:6052-6052 MT:6052-6052 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6367T>C SNV Likely benign 692646 MT:6367-6367 MT:6367-6367 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6510G>A SNV Likely benign 692655 MT:6510-6510 MT:6510-6510 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6445C>T SNV Likely benign 692649 MT:6445-6445 MT:6445-6445 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6339A>G SNV Likely benign 692640 MT:6339-6339 MT:6339-6339 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6681T>C SNV Likely benign 692665 MT:6681-6681 MT:6681-6681 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7363A>G SNV Likely benign 692738 MT:7363-7363 MT:7363-7363 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7191T>C SNV Likely benign 692716 MT:7191-7191 MT:7191-7191 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7083A>G SNV Likely benign 692698 MT:7083-7083 MT:7083-7083 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7159T>C SNV Likely benign 692713 MT:7159-7159 MT:7159-7159 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7158A>C SNV Likely benign 692712 MT:7158-7158 MT:7158-7158 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7149A>G SNV Likely benign 692707 MT:7149-7149 MT:7149-7149 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7129A>G SNV Likely benign 692702 MT:7129-7129 MT:7129-7129 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7051T>C SNV Likely benign 692694 MT:7051-7051 MT:7051-7051 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14879A>T SNV Likely benign 693783 MT:14879-14879 MT:14879-14879 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14841A>G SNV Likely benign 693776 MT:14841-14841 MT:14841-14841 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14832C>T SNV Likely benign 693774 MT:14832-14832 MT:14832-14832 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14750A>T SNV Likely benign 693755 MT:14750-14750 MT:14750-14750 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14577T>G SNV Likely benign 693742 MT:14577-14577 MT:14577-14577 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14564A>G SNV Likely benign 693737 MT:14564-14564 MT:14564-14564 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14529C>T SNV Likely benign 693732 MT:14529-14529 MT:14529-14529 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14462G>A SNV Likely benign 693725 MT:14462-14462 MT:14462-14462 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13907A>G SNV Likely benign 693630 MT:13907-13907 MT:13907-13907 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14420C>T SNV Likely benign 693721 MT:14420-14420 MT:14420-14420 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14340C>T SNV Likely benign 693713 MT:14340-14340 MT:14340-14340 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14348T>C SNV Likely benign 693714 MT:14348-14348 MT:14348-14348 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14357A>G SNV Likely benign 693715 MT:14357-14357 MT:14357-14357 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14334C>T SNV Likely benign 693711 MT:14334-14334 MT:14334-14334 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14280A>C SNV Likely benign 693703 MT:14280-14280 MT:14280-14280 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14153T>C SNV Likely benign 693678 MT:14153-14153 MT:14153-14153 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14181A>G SNV Likely benign 693685 MT:14181-14181 MT:14181-14181 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14189A>G SNV Likely benign 693686 MT:14189-14189 MT:14189-14189 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14193A>G SNV Likely benign 693687 MT:14193-14193 MT:14193-14193 LGH007 Leigh Syndrome ND5 NC_012920.1:m.14142C>A SNV Likely benign 693674 MT:14142-14142 MT:14142-14142 LGH007 Leigh Syndrome ND5 NC_012920.1:m.14047A>G SNV Likely benign 693655 MT:14047-14047 MT:14047-14047 LGH007 Leigh Syndrome ND5 NC_012920.1:m.14060T>C SNV Likely benign 693661 MT:14060-14060 MT:14060-14060 LGH007 Leigh Syndrome ND5 NC_012920.1:m.14062A>G SNV Likely benign 693662 MT:14062-14062 MT:14062-14062 LGH007 Leigh Syndrome ND5 NC_012920.1:m.14029A>G SNV Likely benign 693650 MT:14029-14029 MT:14029-14029 LGH007 Leigh Syndrome ND5 NC_012920.1:m.14035T>G SNV Likely benign 693651 MT:14035-14035 MT:14035-14035 LGH007 Leigh Syndrome ND5 NC_012920.1:m.14040G>C SNV Likely benign 693652 MT:14040-14040 MT:14040-14040 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13919T>A SNV Likely benign 693632 MT:13919-13919 MT:13919-13919 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13888T>C SNV Likely benign 693628 MT:13888-13888 MT:13888-13888 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13879T>A SNV Likely benign 693624 MT:13879-13879 MT:13879-13879 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13790A>G SNV Likely benign 693611 MT:13790-13790 MT:13790-13790 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13801A>G SNV Likely benign 693612 MT:13801-13801 MT:13801-13801 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13816A>G SNV Likely benign 693616 MT:13816-13816 MT:13816-13816 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13762T>A SNV Likely benign 693602 MT:13762-13762 MT:13762-13762 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13763C>T SNV Likely benign 693604 MT:13763-13763 MT:13763-13763 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13768T>A SNV Likely benign 693605 MT:13768-13768 MT:13768-13768 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13770C>A SNV Likely benign 693607 MT:13770-13770 MT:13770-13770 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13676A>G SNV Likely benign 693590 MT:13676-13676 MT:13676-13676 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13681A>T SNV Likely benign 693592 MT:13681-13681 MT:13681-13681 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13661A>G SNV Likely benign 693588 MT:13661-13661 MT:13661-13661 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13649C>T SNV Likely benign 693584 MT:13649-13649 MT:13649-13649 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13615A>G SNV Likely benign 693580 MT:13615-13615 MT:13615-13615 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13543T>C SNV Likely benign 693570 MT:13543-13543 MT:13543-13543 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13606A>G SNV Likely benign 693578 MT:13606-13606 MT:13606-13606 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13576A>G SNV Likely benign 693574 MT:13576-13576 MT:13576-13576 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13579G>A SNV Likely benign 693575 MT:13579-13579 MT:13579-13579 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13285A>G SNV Likely benign 693542 MT:13285-13285 MT:13285-13285 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12906C>A SNV Likely benign 693499 MT:12906-12906 MT:12906-12906 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11930A>G SNV Likely benign 693386 MT:11930-11930 MT:11930-11930 LGH007 Leigh Syndrome ND5 NC_012920.1(MT-ND5):m.12730G>A SNV Likely benign 693479 MT:12730-12730 MT:12730-12730 LGH007 Leigh Syndrome ND5 NC_012920.1(MT-ND5):m.12674A>G SNV Likely benign 693476 MT:12674-12674 MT:12674-12674 LGH007 Leigh Syndrome ND5 NC_012920.1(MT-ND5):m.12661A>T SNV Likely benign 693473 MT:12661-12661 MT:12661-12661 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13466G>A SNV Likely benign 693557 MT:13466-13466 MT:13466-13466 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13225G>A SNV Likely benign 693537 MT:13225-13225 MT:13225-13225 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13153A>G SNV Likely benign 693528 MT:13153-13153 MT:13153-13153 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12890C>T SNV Likely benign 693496 MT:12890-12890 MT:12890-12890 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12622G>A SNV Likely benign 693470 MT:12622-12622 MT:12622-12622 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12512A>T SNV Likely benign 693456 MT:12512-12512 MT:12512-12512 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12481T>A SNV Likely benign 693452 MT:12481-12481 MT:12481-12481 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12451A>G SNV Likely benign 693446 MT:12451-12451 MT:12451-12451 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12436C>T SNV Likely benign 693442 MT:12436-12436 MT:12436-12436 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12437A>G SNV Likely benign 693443 MT:12437-12437 MT:12437-12437 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12424A>G SNV Likely benign 693438 MT:12424-12424 MT:12424-12424 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12367A>G SNV Likely benign 693427 MT:12367-12367 MT:12367-12367 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12401C>T SNV Likely benign 693434 MT:12401-12401 MT:12401-12401 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12352A>G SNV Likely benign 693423 MT:12352-12352 MT:12352-12352 LGH007 Leigh Syndrome ND4 NC_012920.1:m.12134T>C SNV Likely benign 693417 MT:12134-12134 MT:12134-12134 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12340A>G SNV Likely benign 693419 MT:12340-12340 MT:12340-12340 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12341C>T SNV Likely benign 693420 MT:12341-12341 MT:12341-12341 LGH007 Leigh Syndrome ND4 NC_012920.1:m.12033A>G SNV Likely benign 693404 MT:12033-12033 MT:12033-12033 LGH007 Leigh Syndrome ND4 NC_012920.1:m.12074A>C SNV Likely benign 693408 MT:12074-12074 MT:12074-12074 LGH007 Leigh Syndrome ND4 NC_012920.1:m.12014C>T SNV Likely benign 693398 MT:12014-12014 MT:12014-12014 LGH007 Leigh Syndrome ND4 NC_012920.1:m.12017A>G SNV Likely benign 693399 MT:12017-12017 MT:12017-12017 LGH007 Leigh Syndrome ND4 NC_012920.1:m.12011T>C SNV Likely benign 693397 MT:12011-12011 MT:12011-12011 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11129A>G SNV Likely benign 693344 MT:11129-11129 MT:11129-11129 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11582A>G SNV Likely benign 693370 MT:11582-11582 MT:11582-11582 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11039C>T SNV Likely benign 693336 MT:11039-11039 MT:11039-11039 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11268C>T SNV Likely benign 693358 MT:11268-11268 MT:11268-11268 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11318T>C SNV Likely benign 693361 MT:11318-11318 MT:11318-11318 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11946C>T SNV Likely benign 693388 MT:11946-11946 MT:11946-11946 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11957A>G SNV Likely benign 693389 MT:11957-11957 MT:11957-11957 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11807A>G SNV Likely benign 693381 MT:11807-11807 MT:11807-11807 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11453G>A SNV Likely benign 693367 MT:11453-11453 MT:11453-11453 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11708A>G SNV Likely benign 693376 MT:11708-11708 MT:11708-11708 LGH007 Leigh Syndrome ND4L NC_012920.1:m.10507C>T SNV Likely benign 693294 MT:10507-10507 MT:10507-10507 LGH007 Leigh Syndrome ND4 NC_012920.1:m.10775G>A SNV Likely benign 693315 MT:10775-10775 MT:10775-10775 LGH007 Leigh Syndrome ND4L NC_012920.1:m.10680G>A SNV Likely benign 693310 MT:10680-10680 MT:10680-10680 LGH007 Leigh Syndrome ND4L NC_012920.1:m.10635G>A SNV Likely benign 693305 MT:10635-10635 MT:10635-10635 LGH007 Leigh Syndrome ND4L NC_012920.1:m.10639A>G SNV Likely benign 693306 MT:10639-10639 MT:10639-10639 LGH007 Leigh Syndrome ND4L NC_012920.1:m.10599G>A SNV Likely benign 693299 MT:10599-10599 MT:10599-10599 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10398A>T SNV Likely benign 693288 MT:10398-10398 MT:10398-10398 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10083A>G SNV Likely benign 693259 MT:10083-10083 MT:10083-10083 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10098G>T SNV Likely benign 693261 MT:10098-10098 MT:10098-10098 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.900G>C (p.Val300=) SNV Likely benign 506789 rs781873188 9:136218771-136218771 9:133351916-133351916 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10326T>A SNV Likely benign 693279 MT:10326-10326 MT:10326-10326 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10188A>G SNV Likely benign 693269 MT:10188-10188 MT:10188-10188 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10192C>A SNV Likely benign 693270 MT:10192-10192 MT:10192-10192 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10113A>G SNV Likely benign 693264 MT:10113-10113 MT:10113-10113 LGH007 Leigh Syndrome ND4 NC_012920.1(MT-ND4):m.10887A>G SNV Likely benign 684482 MT:10887-10887 MT:10887-10887 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.675G>T (p.Pro225=) SNV Likely benign 667521 17:14063244-14063244 17:14159927-14159927 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.303G>A (p.Glu101=) SNV Likely benign 456664 rs1554768670 9:136221534-136221534 9:133354679-133354679 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.879C>T (p.Phe293=) SNV Likely benign 456667 rs145088629 9:136218792-136218792 9:133351937-133351937 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9157G>A SNV Likely benign 441146 rs1556423625 MT:9157-9157 MT:9157-9157 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.54+9_54+22del deletion Likely benign 420446 rs782659731 9:136223254-136223267 9:133356378-133356391 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.687T>C (p.Tyr229=) SNV Likely benign 526796 rs373154583 9:136219365-136219365 9:133352510-133352510 LGH007 Leigh Syndrome GAMT NM_000156.6(GAMT):c.*146A>C SNV Benign/Likely benign 328346 rs659455 19:1397212-1397212 19:1397213-1397213 LGH007 Leigh Syndrome NDUFS7 NM_000156.6(GAMT):c.*146A>C SNV Benign/Likely benign 328346 rs659455 19:1397212-1397212 19:1397213-1397213 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*1324C>T SNV Benign/Likely benign 321841 rs75636595 17:14111854-14111854 17:14208537-14208537 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.*310C>T SNV Benign/Likely benign 321786 rs2662957 17:10584126-10584126 17:10680809-10680809 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.*272T>C SNV Benign/Likely benign 321788 rs2662956 17:10584164-10584164 17:10680847-10680847 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.-63C>T SNV Benign/Likely benign 321806 rs77877576 17:13972860-13972860 17:14069543-14069543 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*438G>C SNV Benign/Likely benign 321826 rs75823746 17:14110968-14110968 17:14207651-14207651 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*974C>A SNV Benign/Likely benign 321837 rs2071245 17:14111504-14111504 17:14208187-14208187 LGH007 Leigh Syndrome COX3 NC_012920.1(MT-CO3):m.9966G>A SNV Benign/Likely benign 377020 rs200809063 MT:9966-9966 MT:9966-9966 LGH007 Leigh Syndrome CYTB NC_012920.1(MT-CYB):m.15777G>A SNV Benign/Likely benign 377195 rs879182710 MT:15777-15777 MT:15777-15777 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.883C>T (p.Arg295Cys) SNV Benign/Likely benign 379683 rs147312193 9:136218788-136218788 9:133351933-133351933 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.163T>C (p.Tyr55His) SNV Benign/Likely benign 353201 rs142926807 5:224487-224487 5:224372-224372 LGH007 Leigh Syndrome ERCC8 NM_174889.4(NDUFAF2):c.-91C>T SNV Benign/Likely benign 354028 rs4647036 5:60240992-60240992 5:60945165-60945165 LGH007 Leigh Syndrome NDUFAF2 NM_174889.4(NDUFAF2):c.-91C>T SNV Benign/Likely benign 354028 rs4647036 5:60240992-60240992 5:60945165-60945165 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*407C>T SNV Benign/Likely benign 335195 rs74614612 2:240900128-240900128 2:239960711-239960711 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.*158T>C SNV Benign/Likely benign 333776 rs3770989 2:206988751-206988751 2:206124027-206124027 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*3075T>G SNV Benign/Likely benign 335160 rs7588974 2:240897460-240897460 2:239958043-239958043 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.*399G>A SNV Benign/Likely benign 333773 rs77000728 2:206988510-206988510 2:206123786-206123786 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.-4A>G SNV Benign/Likely benign 259243 rs377134185 5:218467-218467 5:218352-218352 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1908+15C>T SNV Benign/Likely benign 259245 rs34504623 5:254636-254636 5:254521-254521 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*3349G>A SNV Benign/Likely benign 335154 rs77216981 2:240897186-240897186 2:239957769-239957769 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*2495C>T SNV Benign/Likely benign 335166 rs78395168 2:240898040-240898040 2:239958623-239958623 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*1101C>T SNV Benign/Likely benign 321840 rs75165393 17:14111631-14111631 17:14208314-14208314 LGH007 Leigh Syndrome COX10 NM_001303.3(COX10):c.-109G>A SNV Benign/Likely benign 321804 rs28680987 17:13972814-13972814 17:14069497-14069497 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.*79C>T SNV Benign/Likely benign 305760 rs76839099 11:67380008-67380008 11:67612537-67612537 LGH007 Leigh Syndrome NDUFS8 NM_002496.4(NDUFS8):c.*14C>T SNV Benign/Likely benign 305774 rs1051806 11:67804074-67804074 11:68036607-68036607 LGH007 Leigh Syndrome TCIRG1 NM_002496.4(NDUFS8):c.*14C>T SNV Benign/Likely benign 305774 rs1051806 11:67804074-67804074 11:68036607-68036607 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.507C>T (p.Gly169=) SNV Benign/Likely benign 510967 rs144351432 7:107545874-107545874 7:107905429-107905429 LGH007 Leigh Syndrome ND5 NC_012920.1(MT-ND5):m.12346C>T SNV Benign/Likely benign 445363 rs200279497 MT:12346-12346 MT:12346-12346 LGH007 Leigh Syndrome CYTB NC_012920.1(MT-CYB):m.15071T>C SNV Benign/Likely benign 445709 rs199999794 MT:15071-15071 MT:15071-15071 LGH007 Leigh Syndrome ND5 NC_012920.1(MT-ND5):m.14002A>G SNV Benign/Likely benign 445967 rs386829198 MT:14002-14002 MT:14002-14002 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.*574T>G SNV Benign/Likely benign 895906 2:206988335-206988335 2:206123611-206123611 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.*53T>G SNV Benign/Likely benign 898934 2:206988856-206988856 2:206124132-206124132 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*2511C>T SNV Benign/Likely benign 897252 2:240898024-240898024 2:239958607-239958607 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*3544C>T SNV Benign/Likely benign 897120 2:240896991-240896991 2:239957574-239957574 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*2202C>T SNV Benign/Likely benign 895440 2:240898333-240898333 2:239958916-239958916 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1878C>T SNV Benign/Likely benign 895504 2:240898657-240898657 2:239959240-239959240 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1217A>G SNV Benign/Likely benign 895578 2:240899318-240899318 2:239959901-239959901 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1382C>T SNV Benign/Likely benign 898573 2:240899153-240899153 2:239959736-239959736 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.1393-7T>A SNV Benign/Likely benign 897860 2:206997836-206997836 2:206133112-206133112 LGH007 Leigh Syndrome ND1 m.3308T>C SNV Benign/Likely benign 9728 rs28358582 MT:3308-3308 MT:3308-3308 LGH007 Leigh Syndrome GAMT NM_000156.6(GAMT):c.626C>T (p.Thr209Met) SNV Benign/Likely benign 21068 rs17851582 19:1397443-1397443 19:1397444-1397444 LGH007 Leigh Syndrome NDUFS7 NM_000156.6(GAMT):c.626C>T (p.Thr209Met) SNV Benign/Likely benign 21068 rs17851582 19:1397443-1397443 19:1397444-1397444 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.83C>T (p.Thr28Ile) SNV Benign/Likely benign 137004 rs16948978 17:13977679-13977679 17:14074362-14074362 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.33C>T (p.Arg11=) SNV Benign/Likely benign 137005 rs8076787 17:13972955-13972955 17:14069638-14069638 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.1038G>A (p.Ser346=) SNV Benign/Likely benign 137001 rs2230355 17:14110236-14110236 17:14206919-14206919 LGH007 Leigh Syndrome BCS1L NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn) SNV Benign/Likely benign 136502 rs58447305 2:219526649-219526649 2:218661926-218661926 LGH007 Leigh Syndrome GAMT NM_000156.6(GAMT):c.571-6G>A SNV Benign/Likely benign 129130 rs2074899 19:1397504-1397504 19:1397505-1397505 LGH007 Leigh Syndrome NDUFS7 NM_000156.6(GAMT):c.571-6G>A SNV Benign/Likely benign 129130 rs2074899 19:1397504-1397504 19:1397505-1397505 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1664-8G>A SNV Benign/Likely benign 130275 rs199790689 5:251445-251445 5:251330-251330 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1680G>A (p.Thr560=) SNV Benign/Likely benign 130276 rs1139449 5:251469-251469 5:251354-251354 LGH007 Leigh Syndrome CYTB m.15497G>A SNV Benign/Likely benign 9687 rs199951903 MT:15497-15497 MT:15497-15497 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*887T>C SNV Benign/Likely benign 908668 7:107560591-107560591 7:107920146-107920146 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*474T>C SNV Benign/Likely benign 909455 7:107560178-107560178 7:107919733-107919733 LGH007 Leigh Syndrome NDUFAF2 NM_174889.5(NDUFAF2):c.462T>C (p.Phe154=) SNV Benign/Likely benign 138457 rs77878573 5:60448734-60448734 5:61152907-61152907 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1776T>C (p.His592=) SNV Benign/Likely benign 141824 rs1126538 5:251565-251565 5:251450-251450 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.297A>G (p.Ala99=) SNV Benign/Likely benign 139077 rs11538237 17:10599125-10599125 17:10695808-10695808 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.280T>C (p.Leu94=) SNV Benign/Likely benign 139373 rs28615629 9:136221557-136221557 9:133354702-133354702 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.573C>G (p.Thr191=) SNV Benign/Likely benign 139374 rs28715079 9:136219564-136219564 9:133352709-133352709 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.594A>G (p.Pro198=) SNV Benign/Likely benign 139079 rs2271228 17:10595250-10595250 17:10691933-10691933 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.172C>T (p.Pro58Ser) SNV Benign/Likely benign 139080 rs1802083 17:10600653-10600653 17:10697336-10697336 LGH007 Leigh Syndrome NDUFS8 NM_002496.4(NDUFS8):c.-45A>C SNV Benign/Likely benign 138499 rs4147776 11:67798156-67798156 11:68030689-68030689 LGH007 Leigh Syndrome GAMT NM_024407.5(NDUFS7):c.*13C>A SNV Benign/Likely benign 138494 rs11551663 19:1395500-1395500 19:1395501-1395501 LGH007 Leigh Syndrome NDUFS7 NM_024407.5(NDUFS7):c.*13C>A SNV Benign/Likely benign 138494 rs11551663 19:1395500-1395500 19:1395501-1395501 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.123C>T (p.Val41=) SNV Benign/Likely benign 138482 rs2230888 2:207017173-207017173 2:206152449-206152449 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.551+14C>A SNV Benign/Likely benign 138475 rs10206644 2:207012241-207012241 2:206147517-206147517 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.975C>T (p.Arg325=) SNV Benign/Likely benign 138476 rs2230890 2:207008754-207008754 2:206144030-206144030 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys) SNV Benign/Likely benign 138437 rs35462421 2:240951071-240951071 2:240011654-240011654 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.34G>A (p.Ala12Thr) SNV Benign/Likely benign 137103 rs75077312 7:107531729-107531729 7:107891284-107891284 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.414T>C (p.Asp138=) SNV Benign/Likely benign 138473 rs11548670 2:207012483-207012483 2:206147759-206147759 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.290A>G (p.Tyr97Cys) SNV Benign/Likely benign 137007 rs16948986 17:13980164-13980164 17:14076847-14076847 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.439-7T>C SNV Benign/Likely benign 137094 rs10263341 7:107545799-107545799 7:107905354-107905354 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.1422A>C (p.Gly474=) SNV Benign/Likely benign 137101 rs34453495 7:107559502-107559502 7:107919057-107919057 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.548G>A (p.Arg183His) SNV Benign/Likely benign 137016 rs35483721 10:101486759-101486759 10:99727002-99727002 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.1000-5del deletion Benign/Likely benign 214702 rs138479490 2:240900608-240900608 2:239961191-239961191 LGH007 Leigh Syndrome NDUFAF2 NM_174889.5(NDUFAF2):c.300A>T (p.Ile100=) SNV Benign/Likely benign 214737 rs191388646 5:60448572-60448572 5:61152745-61152745 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.543C>T (p.Phe181=) SNV Benign/Likely benign 215225 rs62637580 9:136219594-136219594 9:133352739-133352739 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.194A>G (p.Asn65Ser) SNV Benign/Likely benign 214697 rs35715497 2:240961639-240961639 2:240022222-240022222 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.550G>A (p.Gly184Arg) SNV Benign/Likely benign 221062 rs148246073 5:226091-226091 5:225976-225976 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1886A>T (p.Tyr629Phe) SNV Benign/Likely benign 224949 rs6960 5:254599-254599 5:254484-254484 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.113A>T (p.Asp38Val) SNV Benign/Likely benign 224957 rs34635677 5:223646-223646 5:223531-223531 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1911C>T (p.Val637=) SNV Benign/Likely benign 224955 rs11557098 5:256451-256451 5:256336-256336 LGH007 Leigh Syndrome COX3 NC_012920.1(MT-CO3):m.9861T>C SNV Benign/Likely benign 235537 rs878853060 MT:9861-9861 MT:9861-9861 LGH007 Leigh Syndrome ATP6 NC_012920.1(MT-ATP6):m.8616G>T SNV Benign/Likely benign 235626 rs41427749 MT:8616-8616 MT:8616-8616 LGH007 Leigh Syndrome ND3 NC_012920.1(MT-ND3):m.10084T>C SNV Benign/Likely benign 235627 rs41487950 MT:10084-10084 MT:10084-10084 LGH007 Leigh Syndrome ND1 NC_012920.1(MT-ND1):m.3796A>T SNV Benign/Likely benign 235654 rs28357970 MT:3796-3796 MT:3796-3796 LGH007 Leigh Syndrome ATP8 NC_012920.1(MT-ATP8):m.8519G>A SNV Benign/Likely benign 235671 rs878853091 MT:8519-8519 MT:8519-8519 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8527A>G SNV Benign/Likely benign 235294 rs878853003 MT:8527-8527 MT:8527-8527 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8527A>G SNV Benign/Likely benign 235294 rs878853003 MT:8527-8527 MT:8527-8527 LGH007 Leigh Syndrome ND1 NC_012920.1(MT-ND1):m.4219G>A SNV Benign/Likely benign 235315 rs878853008 MT:4219-4219 MT:4219-4219 LGH007 Leigh Syndrome ATP6 NC_012920.1(MT-ATP6):m.8932C>T SNV Benign/Likely benign 235343 rs878853013 MT:8932-8932 MT:8932-8932 LGH007 Leigh Syndrome ND3 NC_012920.1(MT-ND3):m.10321T>C SNV Benign/Likely benign 235782 rs193302928 MT:10321-10321 MT:10321-10321 LGH007 Leigh Syndrome ND5 NC_012920.1(MT-ND5):m.14000T>A SNV Benign/Likely benign 235700 rs28359185 MT:14000-14000 MT:14000-14000 LGH007 Leigh Syndrome COX1 NC_012920.1(MT-CO1):m.6261G>A SNV Benign/Likely benign 235718 rs201262114 MT:6261-6261 MT:6261-6261 LGH007 Leigh Syndrome ND6 NC_012920.1(MT-ND6):m.14393A>G SNV Benign/Likely benign 235743 rs878853104 MT:14393-14393 MT:14393-14393 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1974G>C (p.Pro658=) SNV Benign/Likely benign 252907 rs1042446 5:256514-256514 5:256399-256399 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.664C>T (p.Arg222Cys) SNV Benign/Likely benign 724901 10:101483799-101483799 10:99724042-99724042 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*2649G>A SNV Benign 298394 rs1128642 10:101471695-101471695 10:99711938-99711938 LGH007 Leigh Syndrome COX15 NM_020354.5(ENTPD7):c.*5165G>A SNV Benign 298375 rs2300983 10:101469605-101469605 10:99709848-99709848 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.-66G>A SNV Benign 305738 rs73490568 11:67374410-67374410 11:67606939-67606939 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*297G>A SNV Benign 321822 rs8076247 17:14110827-14110827 17:14207510-14207510 LGH007 Leigh Syndrome COX15 NM_015960.3(CUTC):c.61+237T>G SNV Benign 298434 rs2281636 10:101492403-101492403 10:99732646-99732646 LGH007 Leigh Syndrome COX15 NM_015960.3(CUTC):c.61+75G>A SNV Benign 298432 rs2231675 10:101492241-101492241 10:99732484-99732484 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*648G>A SNV Benign 358581 rs57801571 7:107560352-107560352 7:107919907-107919907 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*978T>C SNV Benign 358584 rs2158835 7:107560682-107560682 7:107920237-107920237 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*28G>T SNV Benign 358573 rs17154615 7:107559732-107559732 7:107919287-107919287 LGH007 Leigh Syndrome NDUFS4 NM_002495.4(NDUFS4):c.*46G>A SNV Benign 353892 rs567 5:52979097-52979097 5:53683267-53683267 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*207G>A SNV Benign 358575 rs4564 7:107559911-107559911 7:107919466-107919466 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*855C>T SNV Benign 358582 rs116055514 7:107560559-107560559 7:107920114-107920114 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*3417T>C SNV Benign 298387 rs10883407 10:101470927-101470927 10:99711170-99711170 LGH007 Leigh Syndrome COX15 NM_020354.5(ENTPD7):c.*5463T>G SNV Benign 298377 rs1056844 10:101469903-101469903 10:99710146-99710146 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1229C>G SNV Benign 335180 rs55998047 2:240899306-240899306 2:239959889-239959889 LGH007 Leigh Syndrome LRPPRC NM_133259.3(LRPPRC):c.-45G>A SNV Benign 336181 rs11124961 2:44223131-44223131 2:43995992-43995992 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.*457T>A SNV Benign 333771 rs4147728 2:206988452-206988452 2:206123728-206123728 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.771-11A>G SNV Benign 259248 rs2288461 5:230980-230980 5:230865-230865 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.5C>G (p.Ala2Gly) SNV Benign 290734 rs11541494 2:240964714-240964714 2:240025297-240025297 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.*733A>G SNV Benign 333767 rs6707707 2:206988176-206988176 2:206123452-206123452 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.-47C>G SNV Benign 333790 rs4147707 2:207024107-207024107 2:206159383-206159383 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.*336G>T SNV Benign 333774 rs1044120 2:206988573-206988573 2:206123849-206123849 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*308C>T SNV Benign 335198 rs8369 2:240900227-240900227 2:239960810-239960810 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*3450G>A SNV Benign 335152 rs7573892 2:240897085-240897085 2:239957668-239957668 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*3204C>T SNV Benign 335156 rs34277046 2:240897331-240897331 2:239957914-239957914 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1189C>T SNV Benign 335183 rs66534347 2:240899346-240899346 2:239959929-239959929 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*438C>T SNV Benign 335192 rs13396556 2:240900097-240900097 2:239960680-239960680 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*414G>A SNV Benign 335193 rs13424612 2:240900121-240900121 2:239960704-239960704 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*1957G>A SNV Benign 335174 rs4854069 2:240898578-240898578 2:239959161-239959161 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*2602C>T SNV Benign 335165 rs58261980 2:240897933-240897933 2:239958516-239958516 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*2309G>A SNV Benign 335168 rs1132778 2:240898226-240898226 2:239958809-239958809 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*631C>T SNV Benign 335189 rs10933622 2:240899904-240899904 2:239960487-239960487 LGH007 Leigh Syndrome ERCC8 NM_174889.4(NDUFAF2):c.-97A>G SNV Benign 354027 rs158922 5:60240986-60240986 5:60945159-60945159 LGH007 Leigh Syndrome NDUFAF2 NM_174889.4(NDUFAF2):c.-97A>G SNV Benign 354027 rs158922 5:60240986-60240986 5:60945159-60945159 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*487C>T SNV Benign 358579 rs4518 7:107560191-107560191 7:107919746-107919746 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*947G>T SNV Benign 358583 rs7777259 7:107560651-107560651 7:107920206-107920206 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*1451T>C SNV Benign 358588 rs2108223 7:107561155-107561155 7:107920710-107920710 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*1688G>A SNV Benign 358589 rs8440 7:107561392-107561392 7:107920947-107920947 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*1078C>T SNV Benign 321839 rs13183 17:14111608-14111608 17:14208291-14208291 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.*722C>G SNV Benign 321780 rs7512 17:10583714-10583714 17:10680397-10680397 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*757T>C SNV Benign 321834 rs1802618 17:14111287-14111287 17:14207970-14207970 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*831_*832CT[1] short repeat Benign 321836 rs397763766 17:14111361-14111362 17:14208044-14208045 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*151_*152del deletion Benign 321819 rs200239586 17:14110669-14110670 17:14207352-14207353 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*371A>G SNV Benign 321824 rs11078234 17:14110901-14110901 17:14207584-14207584 LGH007 Leigh Syndrome COX10 NM_001303.3(COX10):c.-112G>A SNV Benign 321803 rs6502330 17:13972811-13972811 17:14069494-14069494 LGH007 Leigh Syndrome NDUFS8 NM_002496.4(NDUFS8):c.199+15T>G SNV Benign 305765 rs3115545 11:67800494-67800494 11:68033027-68033027 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*322T>C SNV Benign 321823 rs11078233 17:14110852-14110852 17:14207535-14207535 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*646C>A SNV Benign 321831 rs7214082 17:14111176-14111176 17:14207859-14207859 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*1385C>T SNV Benign 321843 rs1050223 17:14111915-14111915 17:14208598-14208598 LGH007 Leigh Syndrome DLD NM_002291.3(LAMB1):c.5225-7C>T SNV Benign 369575 rs3213673 7:107564539-107564539 7:107924094-107924094 LGH007 Leigh Syndrome LAMB1 NM_002291.3(LAMB1):c.5225-7C>T SNV Benign 369575 rs3213673 7:107564539-107564539 7:107924094-107924094 LGH007 Leigh Syndrome SCO1 NM_004589.4(SCO1):c.*320= SNV Benign 321785 rs2040570 17:10584116-10584116 17:10680799-10680799 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.*1076T>C SNV Benign 321838 rs1050216 17:14111606-14111606 17:14208289-14208289 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9921G>A SNV Benign 693248 MT:9921-9921 MT:9921-9921 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9948G>A SNV Benign 693251 MT:9948-9948 MT:9948-9948 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9957T>C SNV Benign 693252 MT:9957-9957 MT:9957-9957 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9738G>A SNV Benign 693213 MT:9738-9738 MT:9738-9738 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9756T>G SNV Benign 693221 MT:9756-9756 MT:9756-9756 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9777G>A SNV Benign 693225 MT:9777-9777 MT:9777-9777 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9903T>C SNV Benign 693245 MT:9903-9903 MT:9903-9903 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9909T>C SNV Benign 693246 MT:9909-9909 MT:9909-9909 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9852A>G SNV Benign 693240 MT:9852-9852 MT:9852-9852 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9855A>G SNV Benign 693241 MT:9855-9855 MT:9855-9855 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9801G>A SNV Benign 693227 MT:9801-9801 MT:9801-9801 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9137T>C SNV Benign 693106 MT:9137-9137 MT:9137-9137 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9139G>A SNV Benign 693107 MT:9139-9139 MT:9139-9139 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9142G>A SNV Benign 693109 MT:9142-9142 MT:9142-9142 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9145G>A SNV Benign 693110 MT:9145-9145 MT:9145-9145 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9151A>G SNV Benign 693111 MT:9151-9151 MT:9151-9151 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9127A>G SNV Benign 693101 MT:9127-9127 MT:9127-9127 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9128T>C SNV Benign 693102 MT:9128-9128 MT:9128-9128 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9110T>C SNV Benign 693096 MT:9110-9110 MT:9110-9110 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9115A>G SNV Benign 693097 MT:9115-9115 MT:9115-9115 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9116T>C SNV Benign 693098 MT:9116-9116 MT:9116-9116 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9210A>G SNV Benign 693125 MT:9210-9210 MT:9210-9210 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9211C>T SNV Benign 693126 MT:9211-9211 MT:9211-9211 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9196G>A SNV Benign 693122 MT:9196-9196 MT:9196-9196 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9163G>A SNV Benign 693113 MT:9163-9163 MT:9163-9163 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9181A>G SNV Benign 693118 MT:9181-9181 MT:9181-9181 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9182G>A SNV Benign 693119 MT:9182-9182 MT:9182-9182 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9052A>G SNV Benign 693065 MT:9052-9052 MT:9052-9052 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9053G>A SNV Benign 693066 MT:9053-9053 MT:9053-9053 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9055G>A SNV Benign 693067 MT:9055-9055 MT:9055-9055 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9056C>T SNV Benign 693068 MT:9056-9056 MT:9056-9056 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9077T>C SNV Benign 693077 MT:9077-9077 MT:9077-9077 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9070T>G SNV Benign 693074 MT:9070-9070 MT:9070-9070 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9058A>G SNV Benign 693069 MT:9058-9058 MT:9058-9058 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9064G>A SNV Benign 693071 MT:9064-9064 MT:9064-9064 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9067A>G SNV Benign 693072 MT:9067-9067 MT:9067-9067 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9080A>G SNV Benign 693079 MT:9080-9080 MT:9080-9080 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9083T>C SNV Benign 693081 MT:9083-9083 MT:9083-9083 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9088T>C SNV Benign 693084 MT:9088-9088 MT:9088-9088 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9094C>T SNV Benign 693085 MT:9094-9094 MT:9094-9094 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9097A>G SNV Benign 693087 MT:9097-9097 MT:9097-9097 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9098T>C SNV Benign 693088 MT:9098-9098 MT:9098-9098 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9098T>G SNV Benign 693089 MT:9098-9098 MT:9098-9098 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9100A>G SNV Benign 693091 MT:9100-9100 MT:9100-9100 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9101T>G SNV Benign 693092 MT:9101-9101 MT:9101-9101 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9103T>C SNV Benign 693093 MT:9103-9103 MT:9103-9103 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9288A>G SNV Benign 693139 MT:9288-9288 MT:9288-9288 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9324A>G SNV Benign 693147 MT:9324-9324 MT:9324-9324 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9325T>C SNV Benign 693148 MT:9325-9325 MT:9325-9325 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9316T>C SNV Benign 693145 MT:9316-9316 MT:9316-9316 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9300G>A SNV Benign 693141 MT:9300-9300 MT:9300-9300 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9468A>G SNV Benign 693167 MT:9468-9468 MT:9468-9468 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9469C>T SNV Benign 693168 MT:9469-9469 MT:9469-9469 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9477G>A SNV Benign 693169 MT:9477-9477 MT:9477-9477 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9448A>G SNV Benign 693164 MT:9448-9448 MT:9448-9448 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9391C>T SNV Benign 693160 MT:9391-9391 MT:9391-9391 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9355A>G SNV Benign 693155 MT:9355-9355 MT:9355-9355 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9336A>G SNV Benign 693152 MT:9336-9336 MT:9336-9336 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9337T>C SNV Benign 693153 MT:9337-9337 MT:9337-9337 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9495T>C SNV Benign 693177 MT:9495-9495 MT:9495-9495 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9531A>G SNV Benign 693180 MT:9531-9531 MT:9531-9531 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9591G>A SNV Benign 693188 MT:9591-9591 MT:9591-9591 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9604A>G SNV Benign 693190 MT:9604-9604 MT:9604-9604 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9612G>A SNV Benign 693191 MT:9612-9612 MT:9612-9612 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9621G>A SNV Benign 693192 MT:9621-9621 MT:9621-9621 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9664A>G SNV Benign 693202 MT:9664-9664 MT:9664-9664 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9667A>G SNV Benign 693203 MT:9667-9667 MT:9667-9667 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9670A>G SNV Benign 693204 MT:9670-9670 MT:9670-9670 LGH007 Leigh Syndrome COX3 NC_012920.1:m.9682T>C SNV Benign 693205 MT:9682-9682 MT:9682-9682 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7775G>A SNV Benign 692774 MT:7775-7775 MT:7775-7775 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7691T>C SNV Benign 692761 MT:7691-7691 MT:7691-7691 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7697G>A SNV Benign 692762 MT:7697-7697 MT:7697-7697 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7754G>A SNV Benign 692770 MT:7754-7754 MT:7754-7754 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7757G>A SNV Benign 692771 MT:7757-7757 MT:7757-7757 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7805G>A SNV Benign 692779 MT:7805-7805 MT:7805-7805 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7830G>A SNV Benign 692784 MT:7830-7830 MT:7830-7830 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7664G>A SNV Benign 692756 MT:7664-7664 MT:7664-7664 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7679T>C SNV Benign 692759 MT:7679-7679 MT:7679-7679 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7673A>G SNV Benign 692757 MT:7673-7673 MT:7673-7673 LGH007 Leigh Syndrome COX2 NC_012920.1:m.8022T>C SNV Benign 692810 MT:8022-8022 MT:8022-8022 LGH007 Leigh Syndrome COX2 NC_012920.1:m.8026A>T SNV Benign 692811 MT:8026-8026 MT:8026-8026 LGH007 Leigh Syndrome COX2 NC_012920.1:m.8027G>A SNV Benign 692812 MT:8027-8027 MT:8027-8027 LGH007 Leigh Syndrome COX2 NC_012920.1:m.8237A>G SNV Benign 692827 MT:8237-8237 MT:8237-8237 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7964T>C SNV Benign 692803 MT:7964-7964 MT:7964-7964 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7844A>G SNV Benign 692787 MT:7844-7844 MT:7844-7844 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7853G>A SNV Benign 692788 MT:7853-7853 MT:7853-7853 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7854T>C SNV Benign 692789 MT:7854-7854 MT:7854-7854 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7859G>A SNV Benign 692790 MT:7859-7859 MT:7859-7859 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7934A>G SNV Benign 692799 MT:7934-7934 MT:7934-7934 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8381A>G SNV Benign 692837 MT:8381-8381 MT:8381-8381 LGH007 Leigh Syndrome COX2 NC_012920.1:m.8108A>G SNV Benign 692821 MT:8108-8108 MT:8108-8108 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8387G>A SNV Benign 692839 MT:8387-8387 MT:8387-8387 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8388T>C SNV Benign 692840 MT:8388-8388 MT:8388-8388 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8400T>C SNV Benign 692844 MT:8400-8400 MT:8400-8400 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8396A>G SNV Benign 692842 MT:8396-8396 MT:8396-8396 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8454A>G SNV Benign 692861 MT:8454-8454 MT:8454-8454 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8460A>G SNV Benign 692862 MT:8460-8460 MT:8460-8460 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8448T>C SNV Benign 692859 MT:8448-8448 MT:8448-8448 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8433T>C SNV Benign 692856 MT:8433-8433 MT:8433-8433 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8435A>G SNV Benign 692858 MT:8435-8435 MT:8435-8435 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8406C>T SNV Benign 692846 MT:8406-8406 MT:8406-8406 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8417C>T SNV Benign 692852 MT:8417-8417 MT:8417-8417 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8426T>C SNV Benign 692853 MT:8426-8426 MT:8426-8426 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8429C>T SNV Benign 692854 MT:8429-8429 MT:8429-8429 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8414C>T SNV Benign 692850 MT:8414-8414 MT:8414-8414 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8472C>T SNV Benign 692869 MT:8472-8472 MT:8472-8472 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8462T>C SNV Benign 692864 MT:8462-8462 MT:8462-8462 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8463A>G SNV Benign 692865 MT:8463-8463 MT:8463-8463 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8477T>C SNV Benign 692871 MT:8477-8477 MT:8477-8477 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8478C>T SNV Benign 692872 MT:8478-8478 MT:8478-8478 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8490T>C SNV Benign 692876 MT:8490-8490 MT:8490-8490 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8496T>C SNV Benign 692877 MT:8496-8496 MT:8496-8496 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8502A>G SNV Benign 692878 MT:8502-8502 MT:8502-8502 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8508A>G SNV Benign 692882 MT:8508-8508 MT:8508-8508 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8504T>C SNV Benign 692880 MT:8504-8504 MT:8504-8504 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8537A>G SNV Benign 692890 MT:8537-8537 MT:8537-8537 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8537A>G SNV Benign 692890 MT:8537-8537 MT:8537-8537 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8541G>A SNV Benign 692891 MT:8541-8541 MT:8541-8541 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8541G>A SNV Benign 692891 MT:8541-8541 MT:8541-8541 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8542T>C SNV Benign 692892 MT:8542-8542 MT:8542-8542 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8542T>C SNV Benign 692892 MT:8542-8542 MT:8542-8542 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8545G>A SNV Benign 692893 MT:8545-8545 MT:8545-8545 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8545G>A SNV Benign 692893 MT:8545-8545 MT:8545-8545 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8522C>T SNV Benign 692886 MT:8522-8522 MT:8522-8522 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8562C>T SNV Benign 692902 MT:8562-8562 MT:8562-8562 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8562C>T SNV Benign 692902 MT:8562-8562 MT:8562-8562 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8563A>G SNV Benign 692903 MT:8563-8563 MT:8563-8563 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8563A>G SNV Benign 692903 MT:8563-8563 MT:8563-8563 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8566A>G SNV Benign 692904 MT:8566-8566 MT:8566-8566 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8566A>G SNV Benign 692904 MT:8566-8566 MT:8566-8566 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8567T>C SNV Benign 692905 MT:8567-8567 MT:8567-8567 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8567T>C SNV Benign 692905 MT:8567-8567 MT:8567-8567 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8548T>C SNV Benign 692895 MT:8548-8548 MT:8548-8548 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8548T>C SNV Benign 692895 MT:8548-8548 MT:8548-8548 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8552T>C SNV Benign 692898 MT:8552-8552 MT:8552-8552 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8552T>C SNV Benign 692898 MT:8552-8552 MT:8552-8552 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8768C>T SNV Benign 692981 MT:8768-8768 MT:8768-8768 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8762T>C SNV Benign 692977 MT:8762-8762 MT:8762-8762 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8764G>A SNV Benign 692978 MT:8764-8764 MT:8764-8764 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8794C>T SNV Benign 692987 MT:8794-8794 MT:8794-8794 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8752A>G SNV Benign 692974 MT:8752-8752 MT:8752-8752 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8756T>C SNV Benign 692975 MT:8756-8756 MT:8756-8756 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8681T>C SNV Benign 692949 MT:8681-8681 MT:8681-8681 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8683A>G SNV Benign 692950 MT:8683-8683 MT:8683-8683 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8684C>T SNV Benign 692951 MT:8684-8684 MT:8684-8684 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8701A>G SNV Benign 692955 MT:8701-8701 MT:8701-8701 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8702C>T SNV Benign 692956 MT:8702-8702 MT:8702-8702 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8705T>C SNV Benign 692957 MT:8705-8705 MT:8705-8705 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8668T>C SNV Benign 692947 MT:8668-8668 MT:8668-8668 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8723G>A SNV Benign 692965 MT:8723-8723 MT:8723-8723 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8725A>G SNV Benign 692966 MT:8725-8725 MT:8725-8725 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8557G>A SNV Benign 692900 MT:8557-8557 MT:8557-8557 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8557G>A SNV Benign 692900 MT:8557-8557 MT:8557-8557 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8572G>A SNV Benign 692907 MT:8572-8572 MT:8572-8572 LGH007 Leigh Syndrome ATP8 NC_012920.1:m.8572G>A SNV Benign 692907 MT:8572-8572 MT:8572-8572 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8573G>A SNV Benign 692908 MT:8573-8573 MT:8573-8573 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8578C>T SNV Benign 692910 MT:8578-8578 MT:8578-8578 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8581G>A SNV Benign 692911 MT:8581-8581 MT:8581-8581 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8582C>T SNV Benign 692912 MT:8582-8582 MT:8582-8582 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8584G>A SNV Benign 692913 MT:8584-8584 MT:8584-8584 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8588T>C SNV Benign 692914 MT:8588-8588 MT:8588-8588 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8618T>C SNV Benign 692927 MT:8618-8618 MT:8618-8618 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8602T>C SNV Benign 692920 MT:8602-8602 MT:8602-8602 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8603T>C SNV Benign 692921 MT:8603-8603 MT:8603-8603 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8632T>C SNV Benign 692933 MT:8632-8632 MT:8632-8632 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8659A>G SNV Benign 692945 MT:8659-8659 MT:8659-8659 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8653A>G SNV Benign 692941 MT:8653-8653 MT:8653-8653 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8654T>C SNV Benign 692942 MT:8654-8654 MT:8654-8654 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8639T>C SNV Benign 692936 MT:8639-8639 MT:8639-8639 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8642A>G SNV Benign 692938 MT:8642-8642 MT:8642-8642 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8812A>G SNV Benign 692990 MT:8812-8812 MT:8812-8812 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8836A>G SNV Benign 692995 MT:8836-8836 MT:8836-8836 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8839G>A SNV Benign 692996 MT:8839-8839 MT:8839-8839 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8842A>G SNV Benign 692999 MT:8842-8842 MT:8842-8842 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8843T>C SNV Benign 693000 MT:8843-8843 MT:8843-8843 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8854G>A SNV Benign 693002 MT:8854-8854 MT:8854-8854 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8857G>A SNV Benign 693003 MT:8857-8857 MT:8857-8857 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8860A>G SNV Benign 693004 MT:8860-8860 MT:8860-8860 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8896G>A SNV Benign 693017 MT:8896-8896 MT:8896-8896 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8897C>T SNV Benign 693018 MT:8897-8897 MT:8897-8897 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8887A>G SNV Benign 693014 MT:8887-8887 MT:8887-8887 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8875T>C SNV Benign 693012 MT:8875-8875 MT:8875-8875 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8869A>G SNV Benign 693009 MT:8869-8869 MT:8869-8869 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8870T>C SNV Benign 693010 MT:8870-8870 MT:8870-8870 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8864T>C SNV Benign 693006 MT:8864-8864 MT:8864-8864 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8866A>G SNV Benign 693007 MT:8866-8866 MT:8866-8866 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8910C>A SNV Benign 693021 MT:8910-8910 MT:8910-8910 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8938A>G SNV Benign 693029 MT:8938-8938 MT:8938-8938 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8978T>C SNV Benign 693042 MT:8978-8978 MT:8978-8978 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8962A>G SNV Benign 693037 MT:8962-8962 MT:8962-8962 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8998G>A SNV Benign 693048 MT:8998-8998 MT:8998-8998 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9007A>G SNV Benign 693051 MT:9007-9007 MT:9007-9007 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9025G>A SNV Benign 693057 MT:9025-9025 MT:9025-9025 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5302T>C SNV Benign 235811 rs878853115 MT:5302-5302 MT:5302-5302 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12535C>T SNV Benign 235010 rs876661356 MT:12535-12535 MT:12535-12535 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3548T>C SNV Benign 235006 rs876661353 MT:3548-3548 MT:3548-3548 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4135T>C SNV Benign 235009 rs876661355 MT:4135-4135 MT:4135-4135 LGH007 Leigh Syndrome CYTB NC_012920.1(MT-CYB):m.15746A>G SNV Benign 235623 rs386829260 MT:15746-15746 MT:15746-15746 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15884G>C SNV Benign 252455 rs527236195 MT:15884-15884 MT:15884-15884 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3505A>G SNV Benign 252456 rs28358585 MT:3505-3505 MT:3505-3505 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11984T>C SNV Benign 155888 rs200911567 MT:11984-11984 MT:11984-11984 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.249T>C (p.Val83=) SNV Benign 137092 rs2228664 7:107542820-107542820 7:107902375-107902375 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.684+7G>A SNV Benign 137096 rs75123588 7:107546820-107546820 7:107906375-107906375 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.685-14T>A SNV Benign 137097 rs80111449 7:107555937-107555937 7:107915492-107915492 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.777A>G (p.Lys259=) SNV Benign 137098 rs1065762 7:107556043-107556043 7:107915598-107915598 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.1351C>T (p.Leu451=) SNV Benign 137100 rs1803921 7:107558483-107558483 7:107918038-107918038 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*18A>T SNV Benign 137102 rs8721 7:107559722-107559722 7:107919277-107919277 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.24G>A (p.Leu8=) SNV Benign 138440 rs113012830 2:240964695-240964695 2:240025278-240025278 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.549C>G (p.Gly183=) SNV Benign 138501 rs10896187 11:67377890-67377890 11:67610419-67610419 LGH007 Leigh Syndrome NDUFV1 NM_007103.4(NDUFV1):c.1056T>C (p.Ala352=) SNV Benign 138502 rs11227859 11:67379016-67379016 11:67611545-67611545 LGH007 Leigh Syndrome NDUFS7 NM_024407.5(NDUFS7):c.408+10G>T SNV Benign 138498 rs2074896 19:1391059-1391059 19:1391060-1391060 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.167C>G (p.Ala56Gly) SNV Benign 139372 rs116779216 9:136221752-136221752 9:133354897-133354897 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.751+6T>C SNV Benign 139376 rs41296099 9:136219295-136219295 9:133352440-133352440 LGH007 Leigh Syndrome SURF1 NM_003172.3(SURF1):c.-37C>T SNV Benign 139377 rs523304 9:136223366-136223366 9:133356490-133356490 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.54+9C>G SNV Benign 139378 rs587675928 9:136223267-136223267 9:133356391-133356391 LGH007 Leigh Syndrome CYTB m.14766C>T SNV Benign 140587 rs193302980 MT:14766-14766 MT:14766-14766 LGH007 Leigh Syndrome CYTB m.15287T>C SNV Benign 140590 rs527236044 MT:15287-15287 MT:15287-15287 LGH007 Leigh Syndrome CYTB m.15326A>G SNV Benign 140592 rs2853508 MT:15326-15326 MT:15326-15326 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15758A>G SNV Benign 143898 rs527236193 MT:15758-15758 MT:15758-15758 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15884G>A SNV Benign 143900 rs527236195 MT:15884-15884 MT:15884-15884 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15431G>A SNV Benign 143924 rs193302993 MT:15431-15431 MT:15431-15431 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15452C>A SNV Benign 143925 rs193302994 MT:15452-15452 MT:15452-15452 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15314G>A SNV Benign 143879 rs527236176 MT:15314-15314 MT:15314-15314 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15323G>A SNV Benign 143880 rs527236177 MT:15323-15323 MT:15323-15323 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15458T>C SNV Benign 143890 rs527236185 MT:15458-15458 MT:15458-15458 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.*396C>G SNV Benign 895707 2:240900139-240900139 2:239960722-239960722 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*1074C>G SNV Benign 910455 7:107560778-107560778 7:107920333-107920333 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.*118T>C SNV Benign 912544 9:136218650-136218650 9:133351795-133351795 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*1300A>G SNV Benign 908729 7:107561004-107561004 7:107920559-107920559 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7444G>A SNV Benign 9663 rs199474822 MT:7444-7444 MT:7444-7444 LGH007 Leigh Syndrome TRNS1 NC_012920.1:m.7444G>A SNV Benign 9663 rs199474822 MT:7444-7444 MT:7444-7444 LGH007 Leigh Syndrome COX1 m.6480G>A SNV Benign 9666 rs199476128 MT:6480-6480 MT:6480-6480 LGH007 Leigh Syndrome ND6 m.14319T>C SNV Benign 9695 rs199476110 MT:14319-14319 MT:14319-14319 LGH007 Leigh Syndrome ND5 m.13708G>A SNV Benign 9696 rs28359178 MT:13708-13708 MT:13708-13708 LGH007 Leigh Syndrome ND5 m.12397A>G SNV Benign 9705 rs1556424100 MT:12397-12397 MT:12397-12397 LGH007 Leigh Syndrome ND4 m.11084A>G SNV Benign 9709 rs199476113 MT:11084-11084 MT:11084-11084 LGH007 Leigh Syndrome ND4 m.11696G>A SNV Benign 9710 rs200873900 MT:11696-11696 MT:11696-11696 LGH007 Leigh Syndrome COX1 m.6489C>A SNV Benign 9670 rs28461189 MT:6489-6489 MT:6489-6489 LGH007 Leigh Syndrome CYTB m.15257G>A SNV Benign 9674 rs41518645 MT:15257-15257 MT:15257-15257 LGH007 Leigh Syndrome CYTB m.15812G>A SNV Benign 9675 rs200336777 MT:15812-15812 MT:15812-15812 LGH007 Leigh Syndrome COX3 m.9438G>A SNV Benign 9651 rs267606611 MT:9438-9438 MT:9438-9438 LGH007 Leigh Syndrome ATP6 m.9101T>C SNV Benign 9643 rs199476134 MT:9101-9101 MT:9101-9101 LGH007 Leigh Syndrome ATP8 m.8393C>T SNV Benign 9638 rs1556423442 MT:8393-8393 MT:8393-8393 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1752A>G (p.Ala584=) SNV Benign 130277 rs13070 5:251541-251541 5:251426-251426 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1932G>A (p.Val644=) SNV Benign 130278 rs6961 5:256472-256472 5:256357-256357 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1969G>A (p.Val657Ile) SNV Benign 130279 rs6962 5:256509-256509 5:256394-256394 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.309A>G (p.Ala103=) SNV Benign 130280 rs1139424 5:224633-224633 5:224518-224518 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.619A>C (p.Arg207=) SNV Benign 130281 rs6555055 5:226160-226160 5:226045-226045 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.684T>C (p.Asn228=) SNV Benign 130282 rs2115272 5:228362-228362 5:228247-228247 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.891T>C (p.Pro297=) SNV Benign 130283 rs1126417 5:231111-231111 5:230996-230996 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.105A>G (p.Lys35=) SNV Benign 129685 rs2083411 2:240961728-240961728 2:240022311-240022311 LGH007 Leigh Syndrome NDUFA10 NM_004544.4(NDUFA10):c.771A>G (p.Gln257=) SNV Benign 129686 rs13848 2:240946766-240946766 2:240007349-240007349 LGH007 Leigh Syndrome ERCC8 NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) SNV Benign 129691 rs158921 5:60241142-60241142 5:60945315-60945315 LGH007 Leigh Syndrome NDUFAF2 NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) SNV Benign 129691 rs158921 5:60241142-60241142 5:60945315-60945315 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=) SNV Benign 129695 rs1801318 2:207006676-207006676 2:206141952-206141952 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.966G>T (p.Ala322=) SNV Benign 129696 rs1127566 2:207008763-207008763 2:206144039-206144039 LGH007 Leigh Syndrome NDUFS4 NM_002495.4(NDUFS4):c.12G>C (p.Val4=) SNV Benign 129699 rs2279516 5:52856504-52856504 5:53560674-53560674 LGH007 Leigh Syndrome NDUFS4 NM_002495.4(NDUFS4):c.198A>C (p.Gly66=) SNV Benign 129700 rs31304 5:52942083-52942083 5:53646253-53646253 LGH007 Leigh Syndrome NDUFS4 NM_002495.4(NDUFS4):c.312A>G (p.Arg104=) SNV Benign 129701 rs31303 5:52942197-52942197 5:53646367-53646367 LGH007 Leigh Syndrome NDUFS7 NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu) SNV Benign 129702 rs1142530 19:1388538-1388538 19:1388539-1388539 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1038C>G (p.Ser346=) SNV Benign 130273 rs1041949 5:233734-233734 5:233619-233619 LGH007 Leigh Syndrome SDHA NM_004168.4(SDHA):c.1170C>T (p.Phe390=) SNV Benign 130274 rs35277230 5:235364-235364 5:235249-235249 LGH007 Leigh Syndrome BCS1L NM_001079866.2(BCS1L):c.996C>T (p.Asn332=) SNV Benign 136503 rs33946522 2:219527712-219527712 2:218662989-218662989 LGH007 Leigh Syndrome BCS1L NM_001079866.2(BCS1L):c.1017T>C (p.Pro339=) SNV Benign 136505 rs35843327 2:219527866-219527866 2:218663143-218663143 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.699A>G (p.Pro233=) SNV Benign 136995 rs2230354 17:14095309-14095309 17:14191992-14191992 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.928+12G>A SNV Benign 136998 rs200573622 17:14095550-14095550 17:14192233-14192233 LGH007 Leigh Syndrome COX15 NM_078470.6(COX15):c.*1126T>C SNV Benign 128836 rs2231687 10:101473218-101473218 10:99713461-99713461 LGH007 Leigh Syndrome ND5 m.13637A>G SNV Benign 65511 rs200855215 MT:13637-13637 MT:13637-13637 LGH007 Leigh Syndrome ND6 m.14325T>C SNV Benign 65512 rs397515505 MT:14325-14325 MT:14325-14325 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.504G>A (p.Leu168=) SNV Benign 137003 rs2159132 17:14005439-14005439 17:14102122-14102122 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.184A>T (p.Thr62Ser) SNV Benign 137006 rs2230351 17:13980058-13980058 17:14076741-14076741 LGH007 Leigh Syndrome COX10 NM_001303.4(COX10):c.476G>A (p.Arg159Gln) SNV Benign 137009 rs2072279 17:13980350-13980350 17:14077033-14077033 LGH007 Leigh Syndrome ND1 m.4216T>C SNV Benign 9724 rs1599988 MT:4216-4216 MT:4216-4216 LGH007 Leigh Syndrome ND3 m.10398A>G SNV Benign 9713 rs2853826 MT:10398-10398 MT:10398-10398 LGH007 Leigh Syndrome ND2 m.4917A>G SNV Benign 9716 rs28357980 MT:4917-4917 MT:4917-4917 LGH007 Leigh Syndrome ND2 m.4640C>A SNV Benign 9718 rs387906426 MT:4640-4640 MT:4640-4640 LGH007 Leigh Syndrome ND1 m.3397A>G SNV Benign 9726 rs199476120 MT:3397-3397 MT:3397-3397 LGH007 Leigh Syndrome ND1 m.4136A>G SNV Benign 9727 rs199476121 MT:4136-4136 MT:4136-4136 LGH007 Leigh Syndrome ND1 m.3796A>G SNV Benign 9730 rs28357970 MT:3796-3796 MT:3796-3796 LGH007 Leigh Syndrome ND1 m.3388C>A SNV Benign 29998 rs387906730 MT:3388-3388 MT:3388-3388 LGH007 Leigh Syndrome ND5 m.12338T>C SNV Benign 29999 rs201863060 MT:12338-12338 MT:12338-12338 LGH007 Leigh Syndrome CYTB m.14831G>A SNV Benign 65517 rs199795644 MT:14831-14831 MT:14831-14831 LGH007 Leigh Syndrome ND1 m.4025C>T SNV Benign 65520 rs397515509 MT:4025-4025 MT:4025-4025 LGH007 Leigh Syndrome ND3 m.10237T>C SNV Benign 65508 rs1556423787 MT:10237-10237 MT:10237-10237 LGH007 Leigh Syndrome ND4 m.11253T>C SNV Benign 65509 rs200145866 MT:11253-11253 MT:11253-11253 LGH007 Leigh Syndrome DLD NM_000108.5(DLD):c.*470G>T SNV Benign 909454 7:107560174-107560174 7:107919729-107919729 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.9041A>G SNV Benign 440988 rs879244322 MT:9041-9041 MT:9041-9041 LGH007 Leigh Syndrome ATP6 NC_012920.1:m.8950G>A SNV Benign 590268 rs1556423574 MT:8950-8950 MT:8950-8950 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.154-126TAGA[8] short repeat Benign 676087 2:207014747-207014748 2:206150023-206150024 LGH007 Leigh Syndrome NDUFS1 NM_005006.7(NDUFS1):c.154-126TAGA[9] short repeat Benign 675863 2:207014747-207014748 2:206150023-206150024 LGH007 Leigh Syndrome ND6 NC_012920.1(MT-ND6):m.14502T>C SNV Benign 690281 MT:14502-14502 MT:14502-14502 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10086A>G SNV Benign 693260 MT:10086-10086 MT:10086-10086 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10143G>A SNV Benign 693265 MT:10143-10143 MT:10143-10143 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10192C>T SNV Benign 693271 MT:10192-10192 MT:10192-10192 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10203G>A SNV Benign 693272 MT:10203-10203 MT:10203-10203 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10320G>A SNV Benign 693277 MT:10320-10320 MT:10320-10320 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10324T>C SNV Benign 693278 MT:10324-10324 MT:10324-10324 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10365G>A SNV Benign 693285 MT:10365-10365 MT:10365-10365 LGH007 Leigh Syndrome ND3 NC_012920.1:m.10345T>C SNV Benign 693282 MT:10345-10345 MT:10345-10345 LGH007 Leigh Syndrome ND4L NC_012920.1:m.10530G>A SNV Benign 693297 MT:10530-10530 MT:10530-10530 LGH007 Leigh Syndrome ND4L NC_012920.1:m.10506A>G SNV Benign 693293 MT:10506-10506 MT:10506-10506 LGH007 Leigh Syndrome ND4L NC_012920.1:m.10609T>C SNV Benign 693302 MT:10609-10609 MT:10609-10609 LGH007 Leigh Syndrome ND4L NC_012920.1:m.10653G>A SNV Benign 693307 MT:10653-10653 MT:10653-10653 LGH007 Leigh Syndrome ND4L NC_012920.1:m.10654C>T SNV Benign 693308 MT:10654-10654 MT:10654-10654 LGH007 Leigh Syndrome ND4L NC_012920.1:m.10704G>A SNV Benign 693312 MT:10704-10704 MT:10704-10704 LGH007 Leigh Syndrome ND4L NC_012920.1:m.10750A>G SNV Benign 693314 MT:10750-10750 MT:10750-10750 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11654A>G SNV Benign 693375 MT:11654-11654 MT:11654-11654 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11963G>A SNV Benign 693390 MT:11963-11963 MT:11963-11963 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11928A>G SNV Benign 693385 MT:11928-11928 MT:11928-11928 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11337A>G SNV Benign 693362 MT:11337-11337 MT:11337-11337 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11361T>C SNV Benign 693363 MT:11361-11361 MT:11361-11361 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11252A>G SNV Benign 693356 MT:11252-11252 MT:11252-11252 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11255T>C SNV Benign 693357 MT:11255-11255 MT:11255-11255 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11447G>A SNV Benign 693366 MT:11447-11447 MT:11447-11447 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11087T>C SNV Benign 693340 MT:11087-11087 MT:11087-11087 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11061C>T SNV Benign 693338 MT:11061-11061 MT:11061-11061 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11172A>G SNV Benign 693350 MT:11172-11172 MT:11172-11172 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11177C>T SNV Benign 693351 MT:11177-11177 MT:11177-11177 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11204T>C SNV Benign 693352 MT:11204-11204 MT:11204-11204 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11150G>A SNV Benign 693347 MT:11150-11150 MT:11150-11150 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11151C>T SNV Benign 693348 MT:11151-11151 MT:11151-11151 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11016G>A SNV Benign 693334 MT:11016-11016 MT:11016-11016 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11025T>C SNV Benign 693335 MT:11025-11025 MT:11025-11025 LGH007 Leigh Syndrome ND4 NC_012920.1:m.10920C>T SNV Benign 693329 MT:10920-10920 MT:10920-10920 LGH007 Leigh Syndrome ND4 NC_012920.1:m.10914G>A SNV Benign 693327 MT:10914-10914 MT:10914-10914 LGH007 Leigh Syndrome ND4 NC_012920.1:m.10895A>G SNV Benign 693322 MT:10895-10895 MT:10895-10895 LGH007 Leigh Syndrome ND4 NC_012920.1:m.10899A>G SNV Benign 693323 MT:10899-10899 MT:10899-10899 LGH007 Leigh Syndrome ND4 NC_012920.1:m.10907T>C SNV Benign 693324 MT:10907-10907 MT:10907-10907 LGH007 Leigh Syndrome ND4 NC_012920.1:m.10845C>T SNV Benign 693319 MT:10845-10845 MT:10845-10845 LGH007 Leigh Syndrome ND4 NC_012920.1:m.12020C>T SNV Benign 693400 MT:12020-12020 MT:12020-12020 LGH007 Leigh Syndrome ND4 NC_012920.1:m.12026A>G SNV Benign 693401 MT:12026-12026 MT:12026-12026 LGH007 Leigh Syndrome ND4 NC_012920.1:m.12030A>G SNV Benign 693402 MT:12030-12030 MT:12030-12030 LGH007 Leigh Syndrome ND4 NC_012920.1:m.12083T>G SNV Benign 693409 MT:12083-12083 MT:12083-12083 LGH007 Leigh Syndrome ND4 NC_012920.1:m.12084C>T SNV Benign 693410 MT:12084-12084 MT:12084-12084 LGH007 Leigh Syndrome ND4 NC_012920.1:m.12092C>A SNV Benign 693411 MT:12092-12092 MT:12092-12092 LGH007 Leigh Syndrome ND4 NC_012920.1:m.12092C>T SNV Benign 693412 MT:12092-12092 MT:12092-12092 LGH007 Leigh Syndrome ND4 NC_012920.1:m.11969G>A SNV Benign 693392 MT:11969-11969 MT:11969-11969 LGH007 Leigh Syndrome ND4 NC_012920.1:m.12135C>A SNV Benign 693418 MT:12135-12135 MT:12135-12135 LGH007 Leigh Syndrome ND4 NC_012920.1:m.12123C>T SNV Benign 693415 MT:12123-12123 MT:12123-12123 LGH007 Leigh Syndrome ND4 NC_012920.1:m.12063C>T SNV Benign 693407 MT:12063-12063 MT:12063-12063 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12358A>G SNV Benign 693424 MT:12358-12358 MT:12358-12358 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12361A>G SNV Benign 693425 MT:12361-12361 MT:12361-12361 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12362C>T SNV Benign 693426 MT:12362-12362 MT:12362-12362 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12400A>G SNV Benign 693433 MT:12400-12400 MT:12400-12400 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12403C>T SNV Benign 693435 MT:12403-12403 MT:12403-12403 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12406G>A SNV Benign 693436 MT:12406-12406 MT:12406-12406 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12373A>G SNV Benign 693428 MT:12373-12373 MT:12373-12373 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12425A>G SNV Benign 693439 MT:12425-12425 MT:12425-12425 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12454G>A SNV Benign 693447 MT:12454-12454 MT:12454-12454 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12490A>G SNV Benign 693453 MT:12490-12490 MT:12490-12490 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12557C>T SNV Benign 693463 MT:12557-12557 MT:12557-12557 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12530A>G SNV Benign 693458 MT:12530-12530 MT:12530-12530 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12542C>T SNV Benign 693459 MT:12542-12542 MT:12542-12542 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12599T>C SNV Benign 693467 MT:12599-12599 MT:12599-12599 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12904A>G SNV Benign 693497 MT:12904-12904 MT:12904-12904 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13105A>G SNV Benign 693519 MT:13105-13105 MT:13105-13105 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13183A>G SNV Benign 693532 MT:13183-13183 MT:13183-13183 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13184T>C SNV Benign 693533 MT:13184-13184 MT:13184-13184 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13117A>G SNV Benign 693522 MT:13117-13117 MT:13117-13117 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13129C>T SNV Benign 693523 MT:13129-13129 MT:13129-13129 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13135G>A SNV Benign 693524 MT:13135-13135 MT:13135-13135 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13145G>A SNV Benign 693525 MT:13145-13145 MT:13145-13145 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13204G>A SNV Benign 693535 MT:13204-13204 MT:13204-13204 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13276A>G SNV Benign 693540 MT:13276-13276 MT:13276-13276 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13466G>C SNV Benign 693558 MT:13466-13466 MT:13466-13466 LGH007 Leigh Syndrome ND5 NC_012920.1(MT-ND5):m.12662A>G SNV Benign 693474 MT:12662-12662 MT:12662-12662 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12634A>G SNV Benign 693472 MT:12634-12634 MT:12634-12634 LGH007 Leigh Syndrome ND5 NC_012920.1(MT-ND5):m.12715A>G SNV Benign 693478 MT:12715-12715 MT:12715-12715 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12757T>C SNV Benign 693481 MT:12757-12757 MT:12757-12757 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12820G>A SNV Benign 693486 MT:12820-12820 MT:12820-12820 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12923G>T SNV Benign 693500 MT:12923-12923 MT:12923-12923 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12937A>G SNV Benign 693501 MT:12937-12937 MT:12937-12937 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12940G>A SNV Benign 693502 MT:12940-12940 MT:12940-12940 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12950A>C SNV Benign 693505 MT:12950-12950 MT:12950-12950 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12950A>G SNV Benign 693504 MT:12950-12950 MT:12950-12950 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12952G>A SNV Benign 693506 MT:12952-12952 MT:12952-12952 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12961A>G SNV Benign 693507 MT:12961-12961 MT:12961-12961 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12967A>G SNV Benign 693508 MT:12967-12967 MT:12967-12967 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12880T>C SNV Benign 693495 MT:12880-12880 MT:12880-12880 LGH007 Leigh Syndrome ND5 NC_012920.1:m.12850A>G SNV Benign 693490 MT:12850-12850 MT:12850-12850 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13327A>G SNV Benign 693544 MT:13327-13327 MT:13327-13327 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13565C>T SNV Benign 693572 MT:13565-13565 MT:13565-13565 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13477G>A SNV Benign 693561 MT:13477-13477 MT:13477-13477 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13535A>G SNV Benign 693569 MT:13535-13535 MT:13535-13535 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13594A>G SNV Benign 693577 MT:13594-13594 MT:13594-13594 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13630A>G SNV Benign 693582 MT:13630-13630 MT:13630-13630 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13651A>G SNV Benign 693586 MT:13651-13651 MT:13651-13651 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13711G>A SNV Benign 693593 MT:13711-13711 MT:13711-13711 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13681A>G SNV Benign 693591 MT:13681-13681 MT:13681-13681 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13741A>G SNV Benign 693596 MT:13741-13741 MT:13741-13741 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13748A>G SNV Benign 693597 MT:13748-13748 MT:13748-13748 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13753T>C SNV Benign 693598 MT:13753-13753 MT:13753-13753 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13754C>T SNV Benign 693599 MT:13754-13754 MT:13754-13754 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13759G>A SNV Benign 693600 MT:13759-13759 MT:13759-13759 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13780A>G SNV Benign 693608 MT:13780-13780 MT:13780-13780 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13781T>C SNV Benign 693609 MT:13781-13781 MT:13781-13781 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13789T>C SNV Benign 693610 MT:13789-13789 MT:13789-13789 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13768T>C SNV Benign 693606 MT:13768-13768 MT:13768-13768 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13762T>G SNV Benign 693603 MT:13762-13762 MT:13762-13762 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13819T>C SNV Benign 693617 MT:13819-13819 MT:13819-13819 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13820T>C SNV Benign 693618 MT:13820-13820 MT:13820-13820 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13834A>G SNV Benign 693619 MT:13834-13834 MT:13834-13834 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13802C>T SNV Benign 693613 MT:13802-13802 MT:13802-13802 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13810G>A SNV Benign 693614 MT:13810-13810 MT:13810-13810 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13813G>A SNV Benign 693615 MT:13813-13813 MT:13813-13813 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13879T>C SNV Benign 693623 MT:13879-13879 MT:13879-13879 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13880C>A SNV Benign 693625 MT:13880-13880 MT:13880-13880 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13862A>G SNV Benign 693621 MT:13862-13862 MT:13862-13862 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13874T>C SNV Benign 693622 MT:13874-13874 MT:13874-13874 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13889G>A SNV Benign 693629 MT:13889-13889 MT:13889-13889 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13886T>C SNV Benign 693627 MT:13886-13886 MT:13886-13886 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13981C>T SNV Benign 693647 MT:13981-13981 MT:13981-13981 LGH007 Leigh Syndrome ND5 NC_012920.1:m.14003C>T SNV Benign 693648 MT:14003-14003 MT:14003-14003 LGH007 Leigh Syndrome ND5 NC_012920.1:m.14041C>T SNV Benign 693653 MT:14041-14041 MT:14041-14041 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13948C>T SNV Benign 693641 MT:13948-13948 MT:13948-13948 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13958G>C SNV Benign 693642 MT:13958-13958 MT:13958-13958 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13966A>G SNV Benign 693643 MT:13966-13966 MT:13966-13966 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13967C>T SNV Benign 693644 MT:13967-13967 MT:13967-13967 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13973A>T SNV Benign 693645 MT:13973-13973 MT:13973-13973 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13924C>T SNV Benign 693634 MT:13924-13924 MT:13924-13924 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13928G>A SNV Benign 693636 MT:13928-13928 MT:13928-13928 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13928G>C SNV Benign 693635 MT:13928-13928 MT:13928-13928 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13933A>G SNV Benign 693637 MT:13933-13933 MT:13933-13933 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13934C>T SNV Benign 693638 MT:13934-13934 MT:13934-13934 LGH007 Leigh Syndrome ND5 NC_012920.1:m.13943C>T SNV Benign 693639 MT:13943-13943 MT:13943-13943 LGH007 Leigh Syndrome ND5 NC_012920.1:m.14063T>C SNV Benign 693663 MT:14063-14063 MT:14063-14063 LGH007 Leigh Syndrome ND5 NC_012920.1:m.14071A>G SNV Benign 693664 MT:14071-14071 MT:14071-14071 LGH007 Leigh Syndrome ND5 NC_012920.1:m.14053A>G SNV Benign 693658 MT:14053-14053 MT:14053-14053 LGH007 Leigh Syndrome ND5 NC_012920.1:m.14059A>G SNV Benign 693660 MT:14059-14059 MT:14059-14059 LGH007 Leigh Syndrome ND5 NC_012920.1:m.14110T>C SNV Benign 693666 MT:14110-14110 MT:14110-14110 LGH007 Leigh Syndrome ND5 NC_012920.1:m.14122A>G SNV Benign 693669 MT:14122-14122 MT:14122-14122 LGH007 Leigh Syndrome ND5 NC_012920.1:m.14128A>G SNV Benign 693670 MT:14128-14128 MT:14128-14128 LGH007 Leigh Syndrome ND5 NC_012920.1:m.14129C>T SNV Benign 693671 MT:14129-14129 MT:14129-14129 LGH007 Leigh Syndrome ND5 NC_012920.1:m.14142C>G SNV Benign 693675 MT:14142-14142 MT:14142-14142 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14162G>A SNV Benign 693680 MT:14162-14162 MT:14162-14162 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14163C>T SNV Benign 693681 MT:14163-14163 MT:14163-14163 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14178T>C SNV Benign 693682 MT:14178-14178 MT:14178-14178 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14180T>C SNV Benign 693684 MT:14180-14180 MT:14180-14180 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14198G>A SNV Benign 693688 MT:14198-14198 MT:14198-14198 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14207G>A SNV Benign 693690 MT:14207-14207 MT:14207-14207 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14280A>G SNV Benign 693702 MT:14280-14280 MT:14280-14280 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14312A>G SNV Benign 693707 MT:14312-14312 MT:14312-14312 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14315C>T SNV Benign 693708 MT:14315-14315 MT:14315-14315 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14318T>C SNV Benign 693709 MT:14318-14318 MT:14318-14318 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14249G>A SNV Benign 693697 MT:14249-14249 MT:14249-14249 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14256T>C SNV Benign 693698 MT:14256-14256 MT:14256-14256 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14258G>A SNV Benign 693699 MT:14258-14258 MT:14258-14258 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14259G>A SNV Benign 693700 MT:14259-14259 MT:14259-14259 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14226G>A SNV Benign 693694 MT:14226-14226 MT:14226-14226 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14211C>T SNV Benign 693692 MT:14211-14211 MT:14211-14211 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14384G>A SNV Benign 693718 MT:14384-14384 MT:14384-14384 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14405A>G SNV Benign 693719 MT:14405-14405 MT:14405-14405 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14417A>G SNV Benign 693720 MT:14417-14417 MT:14417-14417 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14433C>T SNV Benign 693723 MT:14433-14433 MT:14433-14433 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14514T>C SNV Benign 693730 MT:14514-14514 MT:14514-14514 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14552A>G SNV Benign 693734 MT:14552-14552 MT:14552-14552 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14553C>T SNV Benign 693735 MT:14553-14553 MT:14553-14553 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14562C>T SNV Benign 693736 MT:14562-14562 MT:14562-14562 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14571T>A SNV Benign 693738 MT:14571-14571 MT:14571-14571 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14574C>T SNV Benign 693740 MT:14574-14574 MT:14574-14574 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14582A>G SNV Benign 693744 MT:14582-14582 MT:14582-14582 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14577T>C SNV Benign 693743 MT:14577-14577 MT:14577-14577 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14751C>T SNV Benign 693756 MT:14751-14751 MT:14751-14751 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14757T>C SNV Benign 693757 MT:14757-14757 MT:14757-14757 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14790A>G SNV Benign 693764 MT:14790-14790 MT:14790-14790 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14769A>G SNV Benign 693761 MT:14769-14769 MT:14769-14769 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14750A>G SNV Benign 693754 MT:14750-14750 MT:14750-14750 LGH007 Leigh Syndrome ND6 NC_012920.1:m.14634T>C SNV Benign 693749 MT:14634-14634 MT:14634-14634 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14798T>C SNV Benign 693768 MT:14798-14798 MT:14798-14798 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14793A>G SNV Benign 693766 MT:14793-14793 MT:14793-14793 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14861G>A SNV Benign 693778 MT:14861-14861 MT:14861-14861 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14862C>T SNV Benign 693779 MT:14862-14862 MT:14862-14862 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14870A>G SNV Benign 693780 MT:14870-14870 MT:14870-14870 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6915G>A SNV Benign 692684 MT:6915-6915 MT:6915-6915 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6891A>G SNV Benign 692680 MT:6891-6891 MT:6891-6891 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7119G>A SNV Benign 692700 MT:7119-7119 MT:7119-7119 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7080T>C SNV Benign 692697 MT:7080-7080 MT:7080-7080 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7150T>C SNV Benign 692708 MT:7150-7150 MT:7150-7150 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7158A>G SNV Benign 692711 MT:7158-7158 MT:7158-7158 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7146A>G SNV Benign 692704 MT:7146-7146 MT:7146-7146 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7245A>G SNV Benign 692719 MT:7245-7245 MT:7245-7245 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7299A>G SNV Benign 692730 MT:7299-7299 MT:7299-7299 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7257A>G SNV Benign 692721 MT:7257-7257 MT:7257-7257 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7258T>C SNV Benign 692722 MT:7258-7258 MT:7258-7258 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7269G>A SNV Benign 692723 MT:7269-7269 MT:7269-7269 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7270T>C SNV Benign 692724 MT:7270-7270 MT:7270-7270 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7356G>A SNV Benign 692735 MT:7356-7356 MT:7356-7356 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7309T>C SNV Benign 692732 MT:7309-7309 MT:7309-7309 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7278T>C SNV Benign 692726 MT:7278-7278 MT:7278-7278 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7598G>A SNV Benign 692748 MT:7598-7598 MT:7598-7598 LGH007 Leigh Syndrome COX2 NC_012920.1:m.7604G>A SNV Benign 692749 MT:7604-7604 MT:7604-7604 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7419G>A SNV Benign 692743 MT:7419-7419 MT:7419-7419 LGH007 Leigh Syndrome COX1 NC_012920.1:m.7389T>C SNV Benign 692741 MT:7389-7389 MT:7389-7389 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6663A>G SNV Benign 692663 MT:6663-6663 MT:6663-6663 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6570G>T SNV Benign 692661 MT:6570-6570 MT:6570-6570 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6546C>T SNV Benign 692658 MT:6546-6546 MT:6546-6546 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6852G>A SNV Benign 692675 MT:6852-6852 MT:6852-6852 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6723G>A SNV Benign 692669 MT:6723-6723 MT:6723-6723 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6340C>T SNV Benign 692641 MT:6340-6340 MT:6340-6340 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6345T>C SNV Benign 692642 MT:6345-6345 MT:6345-6345 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6456G>A SNV Benign 692650 MT:6456-6456 MT:6456-6456 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6465G>A SNV Benign 692651 MT:6465-6465 MT:6465-6465 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6366G>A SNV Benign 692644 MT:6366-6366 MT:6366-6366 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6366G>C SNV Benign 692645 MT:6366-6366 MT:6366-6366 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6040A>G SNV Benign 692609 MT:6040-6040 MT:6040-6040 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6018G>A SNV Benign 692607 MT:6018-6018 MT:6018-6018 LGH007 Leigh Syndrome COX1 NC_012920.1:m.5973G>A SNV Benign 692603 MT:5973-5973 MT:5973-5973 LGH007 Leigh Syndrome COX1 NC_012920.1:m.5979G>A SNV Benign 692604 MT:5979-5979 MT:5979-5979 LGH007 Leigh Syndrome COX1 NC_012920.1:m.5985G>A SNV Benign 692605 MT:5985-5985 MT:5985-5985 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6228C>T SNV Benign 692627 MT:6228-6228 MT:6228-6228 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6237C>A SNV Benign 692628 MT:6237-6237 MT:6237-6237 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6249G>A SNV Benign 692629 MT:6249-6249 MT:6249-6249 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6253T>C SNV Benign 692631 MT:6253-6253 MT:6253-6253 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6150G>A SNV Benign 692625 MT:6150-6150 MT:6150-6150 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6285G>A SNV Benign 692635 MT:6285-6285 MT:6285-6285 LGH007 Leigh Syndrome COX1 NC_012920.1:m.6267G>A SNV Benign 692633 MT:6267-6267 MT:6267-6267 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4615A>G SNV Benign 692468 MT:4615-4615 MT:4615-4615 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4639T>C SNV Benign 692471 MT:4639-4639 MT:4639-4639 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4659G>A SNV Benign 692473 MT:4659-4659 MT:4659-4659 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4674A>G SNV Benign 692476 MT:4674-4674 MT:4674-4674 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4695T>C SNV Benign 692481 MT:4695-4695 MT:4695-4695 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4696T>C SNV Benign 692482 MT:4696-4696 MT:4696-4696 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4705T>C SNV Benign 692484 MT:4705-4705 MT:4705-4705 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4707C>T SNV Benign 692485 MT:4707-4707 MT:4707-4707 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4722A>G SNV Benign 692487 MT:4722-4722 MT:4722-4722 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4501C>T SNV Benign 692453 MT:4501-4501 MT:4501-4501 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4512G>A SNV Benign 692457 MT:4512-4512 MT:4512-4512 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4506A>G SNV Benign 692455 MT:4506-4506 MT:4506-4506 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4596G>A SNV Benign 692465 MT:4596-4596 MT:4596-4596 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4560G>A SNV Benign 692462 MT:4560-4560 MT:4560-4560 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4561T>C SNV Benign 692463 MT:4561-4561 MT:4561-4561 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4732A>G SNV Benign 692491 MT:4732-4732 MT:4732-4732 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4734A>G SNV Benign 692492 MT:4734-4734 MT:4734-4734 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4735C>A SNV Benign 692493 MT:4735-4735 MT:4735-4735 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4824A>G SNV Benign 692510 MT:4824-4824 MT:4824-4824 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4833A>G SNV Benign 692511 MT:4833-4833 MT:4833-4833 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4843C>T SNV Benign 692513 MT:4843-4843 MT:4843-4843 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4767A>G SNV Benign 692502 MT:4767-4767 MT:4767-4767 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4924G>A SNV Benign 692520 MT:4924-4924 MT:4924-4924 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4936C>T SNV Benign 692524 MT:4936-4936 MT:4936-4936 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5074T>C SNV Benign 692541 MT:5074-5074 MT:5074-5074 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5076C>T SNV Benign 692542 MT:5076-5076 MT:5076-5076 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4959G>A SNV Benign 692529 MT:4959-4959 MT:4959-4959 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4960C>T SNV Benign 692530 MT:4960-4960 MT:4960-4960 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4965A>G SNV Benign 692531 MT:4965-4965 MT:4965-4965 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5046G>A SNV Benign 692536 MT:5046-5046 MT:5046-5046 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5178C>A SNV Benign 692551 MT:5178-5178 MT:5178-5178 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5186A>T SNV Benign 692552 MT:5186-5186 MT:5186-5186 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5206C>T SNV Benign 692557 MT:5206-5206 MT:5206-5206 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5211C>T SNV Benign 692558 MT:5211-5211 MT:5211-5211 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5262G>A SNV Benign 692559 MT:5262-5262 MT:5262-5262 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5263C>T SNV Benign 692560 MT:5263-5263 MT:5263-5263 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5277T>C SNV Benign 692565 MT:5277-5277 MT:5277-5277 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5194C>T SNV Benign 692555 MT:5194-5194 MT:5194-5194 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5319A>G SNV Benign 692577 MT:5319-5319 MT:5319-5319 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5301A>G SNV Benign 692572 MT:5301-5301 MT:5301-5301 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5437C>T SNV Benign 692586 MT:5437-5437 MT:5437-5437 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5442T>C SNV Benign 692587 MT:5442-5442 MT:5442-5442 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5331C>A SNV Benign 692583 MT:5331-5331 MT:5331-5331 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5460G>A SNV Benign 692591 MT:5460-5460 MT:5460-5460 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5463C>T SNV Benign 692592 MT:5463-5463 MT:5463-5463 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5466A>G SNV Benign 692593 MT:5466-5466 MT:5466-5466 LGH007 Leigh Syndrome ND2 NC_012920.1:m.5493T>C SNV Benign 692595 MT:5493-5493 MT:5493-5493 LGH007 Leigh Syndrome COX1 NC_012920.1:m.5910G>A SNV Benign 692599 MT:5910-5910 MT:5910-5910 LGH007 Leigh Syndrome COX1 NC_012920.1:m.5911C>T SNV Benign 692600 MT:5911-5911 MT:5911-5911 LGH007 Leigh Syndrome COX1 NC_012920.1:m.5913G>A SNV Benign 692601 MT:5913-5913 MT:5913-5913 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14883C>T SNV Benign 693785 MT:14883-14883 MT:14883-14883 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14927A>G SNV Benign 693791 MT:14927-14927 MT:14927-14927 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14978A>G SNV Benign 693801 MT:14978-14978 MT:14978-14978 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14979T>C SNV Benign 693802 MT:14979-14979 MT:14979-14979 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14970A>G SNV Benign 693798 MT:14970-14970 MT:14970-14970 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15002G>A SNV Benign 693807 MT:15002-15002 MT:15002-15002 LGH007 Leigh Syndrome CYTB NC_012920.1:m.14990C>T SNV Benign 693805 MT:14990-14990 MT:14990-14990 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15014T>C SNV Benign 693810 MT:15014-15014 MT:15014-15014 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15080A>G SNV Benign 693822 MT:15080-15080 MT:15080-15080 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15047G>A SNV Benign 693815 MT:15047-15047 MT:15047-15047 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15074T>C SNV Benign 693819 MT:15074-15074 MT:15074-15074 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15077G>A SNV Benign 693820 MT:15077-15077 MT:15077-15077 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15110G>A SNV Benign 693826 MT:15110-15110 MT:15110-15110 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15113A>G SNV Benign 693827 MT:15113-15113 MT:15113-15113 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15119G>A SNV Benign 693829 MT:15119-15119 MT:15119-15119 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15203A>G SNV Benign 693839 MT:15203-15203 MT:15203-15203 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15204T>C SNV Benign 693840 MT:15204-15204 MT:15204-15204 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15164T>C SNV Benign 693836 MT:15164-15164 MT:15164-15164 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15218A>G SNV Benign 693843 MT:15218-15218 MT:15218-15218 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15221G>A SNV Benign 693844 MT:15221-15221 MT:15221-15221 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15236A>G SNV Benign 693849 MT:15236-15236 MT:15236-15236 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15300T>C SNV Benign 693861 MT:15300-15300 MT:15300-15300 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15272A>G SNV Benign 693858 MT:15272-15272 MT:15272-15272 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15261G>A SNV Benign 693855 MT:15261-15261 MT:15261-15261 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15263C>T SNV Benign 693856 MT:15263-15263 MT:15263-15263 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15315C>T SNV Benign 693865 MT:15315-15315 MT:15315-15315 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15317G>A SNV Benign 693866 MT:15317-15317 MT:15317-15317 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15311A>G SNV Benign 693863 MT:15311-15311 MT:15311-15311 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15341T>C SNV Benign 693870 MT:15341-15341 MT:15341-15341 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15383T>C SNV Benign 693875 MT:15383-15383 MT:15383-15383 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15386C>T SNV Benign 693876 MT:15386-15386 MT:15386-15386 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15401A>G SNV Benign 693877 MT:15401-15401 MT:15401-15401 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15402C>T SNV Benign 693878 MT:15402-15402 MT:15402-15402 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15449T>C SNV Benign 693884 MT:15449-15449 MT:15449-15449 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15479T>C SNV Benign 693890 MT:15479-15479 MT:15479-15479 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15519T>C SNV Benign 693896 MT:15519-15519 MT:15519-15519 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15512T>C SNV Benign 693895 MT:15512-15512 MT:15512-15512 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15524A>G SNV Benign 693900 MT:15524-15524 MT:15524-15524 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15644A>G SNV Benign 693920 MT:15644-15644 MT:15644-15644 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15596G>A SNV Benign 693911 MT:15596-15596 MT:15596-15596 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15651C>T SNV Benign 693922 MT:15651-15651 MT:15651-15651 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15617G>A SNV Benign 693915 MT:15617-15617 MT:15617-15617 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15662A>G SNV Benign 693927 MT:15662-15662 MT:15662-15662 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15663T>C SNV Benign 693928 MT:15663-15663 MT:15663-15663 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15672T>C SNV Benign 693930 MT:15672-15672 MT:15672-15672 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15674T>C SNV Benign 693931 MT:15674-15674 MT:15674-15674 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15725C>T SNV Benign 693937 MT:15725-15725 MT:15725-15725 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15731G>A SNV Benign 693938 MT:15731-15731 MT:15731-15731 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15692A>G SNV Benign 693934 MT:15692-15692 MT:15692-15692 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15693T>C SNV Benign 693935 MT:15693-15693 MT:15693-15693 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15734G>A SNV Benign 693940 MT:15734-15734 MT:15734-15734 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15735C>T SNV Benign 693941 MT:15735-15735 MT:15735-15735 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15773G>A SNV Benign 693947 MT:15773-15773 MT:15773-15773 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15747T>C SNV Benign 693945 MT:15747-15747 MT:15747-15747 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15777G>C SNV Benign 693950 MT:15777-15777 MT:15777-15777 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15789C>T SNV Benign 693953 MT:15789-15789 MT:15789-15789 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15803G>A SNV Benign 693956 MT:15803-15803 MT:15803-15803 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15804T>C SNV Benign 693957 MT:15804-15804 MT:15804-15804 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15813T>C SNV Benign 693959 MT:15813-15813 MT:15813-15813 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15824A>G SNV Benign 693960 MT:15824-15824 MT:15824-15824 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15849C>T SNV Benign 693965 MT:15849-15849 MT:15849-15849 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15851A>G SNV Benign 693966 MT:15851-15851 MT:15851-15851 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15852T>C SNV Benign 693967 MT:15852-15852 MT:15852-15852 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15860A>G SNV Benign 693970 MT:15860-15860 MT:15860-15860 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3316G>A SNV Benign 692333 MT:3316-3316 MT:3316-3316 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3349A>G SNV Benign 692341 MT:3349-3349 MT:3349-3349 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3350T>C SNV Benign 692342 MT:3350-3350 MT:3350-3350 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3335T>C SNV Benign 692336 MT:3335-3335 MT:3335-3335 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3337G>A SNV Benign 692337 MT:3337-3337 MT:3337-3337 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3338T>C SNV Benign 692338 MT:3338-3338 MT:3338-3338 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3391G>A SNV Benign 692348 MT:3391-3391 MT:3391-3391 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3398T>C SNV Benign 692351 MT:3398-3398 MT:3398-3398 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3399A>T SNV Benign 692352 MT:3399-3399 MT:3399-3399 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3434A>G SNV Benign 692356 MT:3434-3434 MT:3434-3434 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3421G>A SNV Benign 692354 MT:3421-3421 MT:3421-3421 LGH007 Leigh Syndrome CYTB NC_012920.1:m.15885C>T SNV Benign 693973 MT:15885-15885 MT:15885-15885 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3547A>G SNV Benign 692370 MT:3547-3547 MT:3547-3547 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3565A>G SNV Benign 692371 MT:3565-3565 MT:3565-3565 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3511A>G SNV Benign 692364 MT:3511-3511 MT:3511-3511 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3520A>G SNV Benign 692365 MT:3520-3520 MT:3520-3520 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3523A>G SNV Benign 692366 MT:3523-3523 MT:3523-3523 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3571C>T SNV Benign 692373 MT:3571-3571 MT:3571-3571 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3592G>A SNV Benign 692375 MT:3592-3592 MT:3592-3592 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3593T>C SNV Benign 692376 MT:3593-3593 MT:3593-3593 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3736G>A SNV Benign 692393 MT:3736-3736 MT:3736-3736 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3745G>A SNV Benign 692394 MT:3745-3745 MT:3745-3745 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3746C>T SNV Benign 692395 MT:3746-3746 MT:3746-3746 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3865A>G SNV Benign 692403 MT:3865-3865 MT:3865-3865 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3866T>C SNV Benign 692404 MT:3866-3866 MT:3866-3866 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3992C>T SNV Benign 692410 MT:3992-3992 MT:3992-3992 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4012A>G SNV Benign 692411 MT:4012-4012 MT:4012-4012 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4013C>T SNV Benign 692412 MT:4013-4013 MT:4013-4013 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4021A>G SNV Benign 692413 MT:4021-4021 MT:4021-4021 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4024A>G SNV Benign 692414 MT:4024-4024 MT:4024-4024 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3497C>T SNV Benign 692360 MT:3497-3497 MT:3497-3497 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4048G>A SNV Benign 692416 MT:4048-4048 MT:4048-4048 LGH007 Leigh Syndrome ND1 NC_012920.1:m.3892A>G SNV Benign 692406 MT:3892-3892 MT:3892-3892 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4079A>G SNV Benign 692419 MT:4079-4079 MT:4079-4079 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4093A>G SNV Benign 692422 MT:4093-4093 MT:4093-4093 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4123A>G SNV Benign 692425 MT:4123-4123 MT:4123-4123 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4129A>G SNV Benign 692426 MT:4129-4129 MT:4129-4129 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4225A>G SNV Benign 692436 MT:4225-4225 MT:4225-4225 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4172T>A SNV Benign 692431 MT:4172-4172 MT:4172-4172 LGH007 Leigh Syndrome ND1 NC_012920.1:m.4232T>C SNV Benign 692439 MT:4232-4232 MT:4232-4232 LGH007 Leigh Syndrome ND2 NC_012920.1:m.4491G>A SNV Benign 692448 MT:4491-4491 MT:4491-4491 LGH007 Leigh Syndrome SURF1 NM_003172.4(SURF1):c.588+1G>A SNV not provided 548703 rs1219762677 9:136219548-136219548 9:133352693-133352693 LGH007 Leigh Syndrome GYG2 GRCh37/hg19 Xp22.33(chrX:2746025-2799731)x1 copy number loss not provided 441077 X:2746025-2799731 LGH007 Leigh Syndrome GABRG2 NM_198903.2(GABRG2):c.406C>T (p.Arg136Ter) SNV Pathogenic 205540 5:161524722-161524722 5:162097716-162097716 LNN001 Lennox-Gastaut Syndrome SCN1A NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln) SNV Pathogenic/Likely pathogenic 68557 rs121917995 2:166848878-166848878 2:165992368-165992368 LNN001 Lennox-Gastaut Syndrome POLG NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) SNV Conflicting interpretations of pathogenicity 206596 rs145843073 15:89870429-89870429 15:89327198-89327198 LNN001 Lennox-Gastaut Syndrome ZEB2 NM_014795.4(ZEB2):c.3267A>C (p.Glu1089Asp) SNV Uncertain significance 534635 rs1553960775 2:145147396-145147396 2:144389829-144389829 LNN001 Lennox-Gastaut Syndrome GATM NM_001482.3(GATM):c.367G>A (p.Ala123Thr) SNV Uncertain significance 560642 rs1566840902 15:45661641-45661641 15:45369443-45369443 LNN001 Lennox-Gastaut Syndrome MAPK10 MAPK10, EX10-14DEL deletion Uncertain significance 6746 LNN001 Lennox-Gastaut Syndrome EIF2B5 NM_003907.3(EIF2B5):c.943C>T (p.Arg315Cys) SNV Pathogenic 598970 rs113994063 3:183858305-183858305 3:184140517-184140517 LKD001 Leukodystrophy DEGS1 NM_003676.4(DEGS1):c.764A>G (p.Asn255Ser) SNV Pathogenic 625852 rs768180196 1:224377960-224377960 1:224190258-224190258 LKD001 Leukodystrophy TMEM63A NM_014698.3(TMEM63A):c.503G>A (p.Gly168Glu) SNV Pathogenic 689459 1:226055599-226055599 1:225867899-225867899 LKD001 Leukodystrophy TMEM63A NM_014698.3(TMEM63A):c.1385T>A (p.Ile462Asn) SNV Pathogenic 689460 1:226044710-226044710 1:225857010-225857010 LKD001 Leukodystrophy TMEM63A NM_014698.3(TMEM63A):c.1699G>A (p.Gly567Ser) SNV Pathogenic 689461 1:226041428-226041428 1:225853727-225853727 LKD001 Leukodystrophy ARSA NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) SNV Pathogenic/Likely pathogenic 3080 rs74315475 22:51064461-51064461 22:50626033-50626033 LKD001 Leukodystrophy GALC NM_000153.4(GALC):c.850G>A (p.Gly284Ser) SNV Pathogenic/Likely pathogenic 374024 rs377274761 14:88434737-88434737 14:87968393-87968393 LKD001 Leukodystrophy ALMS1 NM_015120.4(ALMS1):c.1735del (p.Arg579fs) deletion Pathogenic/Likely pathogenic 374506 rs777476179 2:73675386-73675386 2:73448259-73448259 LKD001 Leukodystrophy GALC NM_000153.4(GALC):c.196G>A (p.Ala66Thr) SNV Likely pathogenic 374023 rs1057518843 14:88454867-88454867 14:87988523-87988523 LKD001 Leukodystrophy AIFM1 NM_004208.4(AIFM1):c.1646C>T (p.Ala549Val) SNV Likely pathogenic 373913 rs761953453 X:129264069-129264069 X:130130094-130130094 LKD001 Leukodystrophy RNF216 NM_207111.4(RNF216):c.2061G>A (p.Lys687=) SNV Likely pathogenic 183356 rs730882248 7:5751392-5751392 7:5711761-5711761 LKD001 Leukodystrophy MEN1 NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser) SNV Conflicting interpretations of pathogenicity 200987 rs745404679 11:64572021-64572021 11:64804549-64804549 LKD001 Leukodystrophy KARS1 NM_005548.2(KARS1):c.1493C>T (p.Ala498Val) SNV Conflicting interpretations of pathogenicity 694746 16:75663371-75663371 16:75629473-75629473 LKD001 Leukodystrophy SLC9A6 NM_001042537.1(SLC9A6):c.1346C>A (p.Ala449Glu) SNV Uncertain significance 523398 rs1556619324 X:135098913-135098913 X:136016754-136016754 LKD001 Leukodystrophy PHACTR1 GRCh37/hg19 6p24.1-23(chr6:12536624-13968949) copy number gain Uncertain significance 523282 6:12536624-13968949 LKD001 Leukodystrophy RANBP9 GRCh37/hg19 6p24.1-23(chr6:12536624-13968949) copy number gain Uncertain significance 523282 6:12536624-13968949 LKD001 Leukodystrophy RNF182 GRCh37/hg19 6p24.1-23(chr6:12536624-13968949) copy number gain Uncertain significance 523282 6:12536624-13968949 LKD001 Leukodystrophy SIRT5 GRCh37/hg19 6p24.1-23(chr6:12536624-13968949) copy number gain Uncertain significance 523282 6:12536624-13968949 LKD001 Leukodystrophy TBC1D7 GRCh37/hg19 6p24.1-23(chr6:12536624-13968949) copy number gain Uncertain significance 523282 6:12536624-13968949 LKD001 Leukodystrophy GFOD1 GRCh37/hg19 6p24.1-23(chr6:12536624-13968949) copy number gain Uncertain significance 523282 6:12536624-13968949 LKD001 Leukodystrophy MCUR1 GRCh37/hg19 6p24.1-23(chr6:12536624-13968949) copy number gain Uncertain significance 523282 6:12536624-13968949 LKD001 Leukodystrophy NOL7 GRCh37/hg19 6p24.1-23(chr6:12536624-13968949) copy number gain Uncertain significance 523282 6:12536624-13968949 LKD001 Leukodystrophy HSPD1 NM_002156.5(HSPD1):c.86A>G (p.Asp29Gly) SNV Pathogenic 17558 rs72466451 2:198363487-198363487 2:197498763-197498763 LKD008 Leukodystrophy, Hypomyelinating, 4 POLR3A NM_007055.4(POLR3A):c.2471A>C (p.His824Pro) SNV Likely pathogenic 590969 rs1564617866 10:79760741-79760741 10:78000983-78000983 LKD008 Leukodystrophy, Hypomyelinating, 4 DARS2 NM_018122.5(DARS2):c.1196del (p.Ile399fs) deletion Pathogenic 801580 1:173819469-173819469 1:173850331-173850331 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.228-21_228-20delinsC indel Pathogenic 1057 rs1553201258 1:173797450-173797451 1:173828312-173828313 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.1876C>G (p.Leu626Val) SNV Pathogenic 1058 rs121918205 1:173826781-173826781 1:173857643-173857643 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.787C>T (p.Arg263Ter) SNV Pathogenic 1059 rs121918206 1:173807344-173807344 1:173838206-173838206 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.788G>A (p.Arg263Gln) SNV Pathogenic 1060 rs121918207 1:173807345-173807345 1:173838207-173838207 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.455G>T (p.Cys152Phe) SNV Pathogenic 1061 rs121918208 1:173800731-173800731 1:173831593-173831593 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.492+2T>C SNV Pathogenic 1062 rs142433332 1:173800770-173800770 1:173831632-173831632 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.133A>G (p.Ser45Gly) SNV Pathogenic 1063 rs121918209 1:173795830-173795830 1:173826692-173826692 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.536G>A (p.Arg179His) SNV Pathogenic 1064 rs121918210 1:173802557-173802557 1:173833419-173833419 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.1273G>T (p.Glu425Ter) SNV Pathogenic 1065 rs121918211 1:173819546-173819546 1:173850408-173850408 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.1837C>T (p.Leu613Phe) SNV Pathogenic 1066 rs121918212 1:173826742-173826742 1:173857604-173857604 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.1877T>A (p.Leu626Gln) SNV Pathogenic 1067 rs121918213 1:173826782-173826782 1:173857644-173857644 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.396+2T>G SNV Pathogenic 449386 rs759123043 1:173799901-173799901 1:173830763-173830763 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.20T>A (p.Leu7Ter) SNV Pathogenic 522973 rs1553200766 1:173794387-173794387 1:173825249-173825249 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.228-22T>A SNV Pathogenic 30862 rs1557853625 1:173797449-173797449 1:173828311-173828311 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.1825C>T (p.Arg609Trp) SNV Pathogenic 30863 rs200670286 1:173826730-173826730 1:173857592-173857592 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.228-17C>G SNV Likely pathogenic 801578 1:173797454-173797454 1:173828316-173828316 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.563G>A (p.Arg188Gln) SNV Likely pathogenic 694538 1:173802584-173802584 1:173833446-173833446 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.493-1G>C SNV Likely pathogenic 873471 1:173802513-173802513 1:173833375-173833375 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.259G>A (p.Asp87Asn) SNV Likely pathogenic 434896 rs1209550754 1:173797502-173797502 1:173828364-173828364 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.567G>A (p.Leu189=) SNV Conflicting interpretations of pathogenicity 293815 rs547708828 1:173802588-173802588 1:173833450-173833450 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.261T>C (p.Asp87=) SNV Conflicting interpretations of pathogenicity 293814 rs182096636 1:173797504-173797504 1:173828366-173828366 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.1758C>T (p.Asp586=) SNV Conflicting interpretations of pathogenicity 293828 rs371048800 1:173826663-173826663 1:173857525-173857525 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.128-4A>T SNV Conflicting interpretations of pathogenicity 377765 rs769597479 1:173795821-173795821 1:173826683-173826683 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.-533G>A SNV Uncertain significance 293811 rs533128814 1:173793835-173793835 1:173824697-173824697 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.1804A>G (p.Ile602Val) SNV Uncertain significance 293829 rs779305793 1:173826709-173826709 1:173857571-173857571 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.*431G>A SNV Uncertain significance 293833 rs886045592 1:173827274-173827274 1:173858136-173858136 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.834T>C (p.Phe278=) SNV Uncertain significance 293822 rs117574607 1:173807391-173807391 1:173838253-173838253 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.1063T>A (p.Phe355Ile) SNV Uncertain significance 293823 rs886045589 1:173810046-173810046 1:173840908-173840908 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.1182T>C (p.His394=) SNV Uncertain significance 293824 rs569842479 1:173814420-173814420 1:173845282-173845282 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.1829G>C (p.Gly610Ala) SNV Uncertain significance 293830 rs886045591 1:173826734-173826734 1:173857596-173857596 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.*653T>G SNV Uncertain significance 293835 rs886045593 1:173827496-173827496 1:173858358-173858358 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.-522G>C SNV Uncertain significance 293812 rs886045585 1:173793846-173793846 1:173824708-173824708 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.1558A>C (p.Lys520Gln) SNV Uncertain significance 293825 rs201876507 1:173822700-173822700 1:173853562-173853562 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.*168C>T SNV Uncertain significance 293831 rs550840346 1:173827011-173827011 1:173857873-173857873 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.1750+11T>C SNV Uncertain significance 293827 rs535671373 1:173825890-173825890 1:173856752-173856752 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.1715A>C (p.Asp572Ala) SNV Uncertain significance 293826 rs886045590 1:173825844-173825844 1:173856706-173856706 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.-543C>T SNV Uncertain significance 874571 1:173793825-173793825 1:173824687-173824687 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.-488G>C SNV Uncertain significance 874572 1:173793880-173793880 1:173824742-173824742 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.-219C>T SNV Uncertain significance 874573 1:173794149-173794149 1:173825011-173825011 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.-147A>G SNV Uncertain significance 874574 1:173794221-173794221 1:173825083-173825083 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.1241T>C (p.Val414Ala) SNV Uncertain significance 875553 1:173819514-173819514 1:173850376-173850376 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.1305A>T (p.Glu435Asp) SNV Uncertain significance 876555 1:173819578-173819578 1:173850440-173850440 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.1390G>C (p.Glu464Gln) SNV Uncertain significance 876556 1:173822532-173822532 1:173853394-173853394 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.1588G>A (p.Val530Ile) SNV Uncertain significance 876557 1:173822957-173822957 1:173853819-173853819 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.*152A>C SNV Uncertain significance 873686 1:173826995-173826995 1:173857857-173857857 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.*587G>A SNV Uncertain significance 873687 1:173827430-173827430 1:173858292-173858292 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.*644G>A SNV Uncertain significance 873688 1:173827487-173827487 1:173858349-173858349 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.228-13C>G SNV Uncertain significance 875497 1:173797458-173797458 1:173828320-173828320 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.228-10C>G SNV Uncertain significance 875498 1:173797461-173797461 1:173828323-173828323 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.228-10C>T SNV Uncertain significance 875499 1:173797461-173797461 1:173828323-173828323 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.1191+1G>C SNV Uncertain significance 632091 rs754063468 1:173814430-173814430 1:173845292-173845292 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.610C>G (p.Leu204Val) SNV Uncertain significance 801579 1:173802631-173802631 1:173833493-173833493 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.128-5T>A SNV Likely benign 293813 rs200078808 1:173795820-173795820 1:173826682-173826682 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.*642C>A SNV Likely benign 293834 rs140743566 1:173827485-173827485 1:173858347-173858347 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.1642C>A (p.Leu548Met) SNV Benign/Likely benign 137066 rs149660059 1:173823011-173823011 1:173853873-173853873 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.580G>A (p.Val194Ile) SNV Benign/Likely benign 380113 rs186723843 1:173802601-173802601 1:173833463-173833463 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.228-12C>G SNV Benign 137070 rs9425753 1:173797459-173797459 1:173828321-173828321 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.397-6T>G SNV Benign 137071 rs115051769 1:173800667-173800667 1:173831529-173831529 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.493-3T>C SNV Benign 137072 rs140326200 1:173802511-173802511 1:173833373-173833373 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.*210T>C SNV Benign 293832 rs9425758 1:173827053-173827053 1:173857915-173857915 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.663+8T>C SNV Benign 137065 rs73037062 1:173803665-173803665 1:173834527-173834527 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.127+94ATT[10] short repeat Benign 801577 1:173794588-173794593 1:173825450-173825455 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.1013G>A (p.Gly338Glu) SNV Benign 21546 rs141298312 1:173808677-173808677 1:173839539-173839539 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DARS2 NM_018122.5(DARS2):c.587A>G (p.Lys196Arg) SNV Benign 21547 rs35515638 1:173802608-173802608 1:173833470-173833470 LKN026 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation TRMU NM_018006.5(TRMU):c.229T>C (p.Tyr77His) SNV Pathogenic 1291 rs118203990 22:46733822-46733822 22:46337925-46337925 LVR030 Liver Failure, Infantile, Transient TRMU TRMU, IVS3AS, G-A, -1 SNV Pathogenic 1292 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.815G>A (p.Gly272Asp) SNV Pathogenic 1293 rs118203991 22:46749706-46749706 22:46353809-46353809 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.2T>A (p.Met1Lys) SNV Pathogenic 1294 rs118203992 22:46731663-46731663 22:46335766-46335766 LVR030 Liver Failure, Infantile, Transient TRMU TRMU, IVS11AS, C-G, -3 SNV Pathogenic 30820 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.954dup (p.Ala319fs) duplication Pathogenic 215294 rs863224242 22:46751418-46751419 22:46355521-46355522 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.835G>A (p.Val279Met) SNV Pathogenic/Likely pathogenic 30819 rs387907022 22:46749726-46749726 22:46353829-46353829 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.880del (p.Arg294fs) deletion Likely pathogenic 558684 rs1490906786 22:46751342-46751342 22:46355445-46355445 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.653G>T (p.Ser218Ile) SNV Likely pathogenic 807715 22:46748019-46748019 22:46352122-46352122 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.758T>C (p.Leu253Pro) SNV Likely pathogenic 217019 rs766314948 22:46748213-46748213 22:46352316-46352316 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.238G>A (p.Asp80Asn) SNV Conflicting interpretations of pathogenicity 215284 rs55952751 22:46733831-46733831 22:46337934-46337934 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.469G>A (p.Val157Ile) SNV Conflicting interpretations of pathogenicity 215279 rs201755743 22:46742432-46742432 22:46346535-46346535 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.1218C>T (p.Ser406=) SNV Conflicting interpretations of pathogenicity 342019 rs754239335 22:46752855-46752855 22:46356958-46356958 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.1164G>A (p.Pro388=) SNV Conflicting interpretations of pathogenicity 342017 rs202047181 22:46752801-46752801 22:46356904-46356904 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.1093A>C (p.Thr365Pro) SNV Conflicting interpretations of pathogenicity 215281 rs138586787 22:46751961-46751961 22:46356064-46356064 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.1018+9C>T SNV Conflicting interpretations of pathogenicity 342015 rs373346869 22:46751494-46751494 22:46355597-46355597 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.1188C>G (p.Gly396=) SNV Conflicting interpretations of pathogenicity 342018 rs142346622 22:46752825-46752825 22:46356928-46356928 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) duplication Conflicting interpretations of pathogenicity 552491 rs753112330 22:46751933-46751934 22:46356036-46356037 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.873+12G>A SNV Conflicting interpretations of pathogenicity 378762 rs540183174 22:46749776-46749776 22:46353879-46353879 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.96_97del (p.Phe35fs) deletion Conflicting interpretations of pathogenicity 631899 rs762738569 22:46733689-46733690 22:46337792-46337793 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.900G>T (p.Leu300=) SNV Conflicting interpretations of pathogenicity 137714 rs113846383 22:46751367-46751367 22:46355470-46355470 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.-19G>C SNV Conflicting interpretations of pathogenicity 342004 rs886057609 22:46731643-46731643 22:46335746-46335746 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.-15T>C SNV Conflicting interpretations of pathogenicity 342005 rs764076380 22:46731647-46731647 22:46335750-46335750 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.271A>G (p.Lys91Glu) SNV Uncertain significance 342006 rs886057610 22:46739181-46739181 22:46343284-46343284 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.873+11C>T SNV Uncertain significance 342010 rs373365569 22:46749775-46749775 22:46353878-46353878 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.879C>T (p.Pro293=) SNV Uncertain significance 342011 rs781401971 22:46751346-46751346 22:46355449-46355449 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.4(TRMU):c.-190A>T SNV Uncertain significance 341993 rs538113553 22:46731472-46731472 22:46335575-46335575 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.4(TRMU):c.-161A>C SNV Uncertain significance 341995 rs886057607 22:46731501-46731501 22:46335604-46335604 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.4(TRMU):c.-151G>A SNV Uncertain significance 341996 rs886057608 22:46731511-46731511 22:46335614-46335614 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.4(TRMU):c.-87T>C SNV Uncertain significance 342001 rs184994382 22:46731575-46731575 22:46335678-46335678 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.941C>G (p.Ala314Gly) SNV Uncertain significance 342013 rs760149424 22:46751408-46751408 22:46355511-46355511 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.*113G>A SNV Uncertain significance 342022 rs747510857 22:46753016-46753016 22:46357119-46357119 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.954C>T (p.Pro318=) SNV Uncertain significance 500143 rs758271660 22:46751421-46751421 22:46355524-46355524 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.40G>A (p.Gly14Ser) SNV Uncertain significance 557033 rs751248771 22:46731701-46731701 22:46335804-46335804 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.497C>A (p.Ala166Glu) SNV Uncertain significance 561137 rs756794418 22:46746206-46746206 22:46350309-46350309 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.705+4C>T SNV Uncertain significance 596117 rs372122484 22:46748075-46748075 22:46352178-46352178 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.175A>G (p.Arg59Gly) SNV Uncertain significance 903483 22:46733768-46733768 22:46337871-46337871 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.256T>C (p.Leu86=) SNV Uncertain significance 903484 22:46739166-46739166 22:46343269-46343269 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.902A>G (p.Tyr301Cys) SNV Uncertain significance 901050 22:46751369-46751369 22:46355472-46355472 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.1000C>T (p.Arg334Cys) SNV Uncertain significance 901602 22:46751467-46751467 22:46355570-46355570 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.1142G>A (p.Gly381Glu) SNV Uncertain significance 903538 22:46752779-46752779 22:46356882-46356882 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.1163C>T (p.Pro388Leu) SNV Uncertain significance 903539 22:46752800-46752800 22:46356903-46356903 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.*28G>A SNV Uncertain significance 899936 22:46752931-46752931 22:46357034-46357034 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.*105A>G SNV Uncertain significance 899937 22:46753008-46753008 22:46357111-46357111 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.*320A>G SNV Uncertain significance 901107 22:46753223-46753223 22:46357326-46357326 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.705+10G>A SNV Uncertain significance 899870 22:46748081-46748081 22:46352184-46352184 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.773-4G>A SNV Uncertain significance 899871 22:46749660-46749660 22:46353763-46353763 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.*149G>A SNV Uncertain significance 342024 rs542744986 22:46753052-46753052 22:46357155-46357155 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.-35G>A SNV Uncertain significance 342003 rs775079522 22:46731627-46731627 22:46335730-46335730 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.865G>A (p.Val289Met) SNV Uncertain significance 342009 rs886057611 22:46749756-46749756 22:46353859-46353859 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.4(TRMU):c.-281G>A SNV Uncertain significance 341991 rs148373924 22:46731381-46731381 22:46335484-46335484 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.1135G>T (p.Gly379Cys) SNV Uncertain significance 193910 rs773023974 22:46752772-46752772 22:46356875-46356875 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.4(TRMU):c.-312G>A SNV Uncertain significance 341990 rs143463292 22:46731350-46731350 22:46335453-46335453 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.4(TRMU):c.-279G>A SNV Uncertain significance 341992 rs187162795 22:46731383-46731383 22:46335486-46335486 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.968G>A (p.Arg323Gln) SNV Uncertain significance 215280 rs373437260 22:46751435-46751435 22:46355538-46355538 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.4(TRMU):c.-147C>A SNV Uncertain significance 341997 rs190351151 22:46731515-46731515 22:46335618-46335618 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.4(TRMU):c.-113G>C SNV Uncertain significance 342000 rs182529223 22:46731549-46731549 22:46335652-46335652 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.461G>A (p.Arg154Gln) SNV Uncertain significance 342007 rs200963587 22:46742424-46742424 22:46346527-46346527 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.853G>A (p.Val285Ile) SNV Uncertain significance 342008 rs147754663 22:46749744-46749744 22:46353847-46353847 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.952C>G (p.Pro318Ala) SNV Uncertain significance 342014 rs150128284 22:46751419-46751419 22:46355522-46355522 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.4(TRMU):c.-128A>G SNV Likely benign 341998 rs141601555 22:46731534-46731534 22:46335637-46335637 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.*266_*267AG[1] short repeat Likely benign 342027 rs149055127 22:46753169-46753170 22:46357272-46357273 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.*51C>T SNV Likely benign 342021 rs111830256 22:46752954-46752954 22:46357057-46357057 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.4(TRMU):c.-178G>A SNV Benign/Likely benign 341994 rs114587018 22:46731484-46731484 22:46335587-46335587 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.-44G>A SNV Benign/Likely benign 342002 rs370964036 22:46731618-46731618 22:46335721-46335721 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.4(TRMU):c.-117G>C SNV Benign/Likely benign 341999 rs116519615 22:46731545-46731545 22:46335648-46335648 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.1158G>A (p.Leu386=) SNV Benign/Likely benign 342016 rs79874854 22:46752795-46752795 22:46356898-46356898 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.910C>G (p.Leu304Val) SNV Benign/Likely benign 763623 22:46751377-46751377 22:46355480-46355480 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.1192C>T (p.Arg398Cys) SNV Benign/Likely benign 137716 rs34152016 22:46752829-46752829 22:46356932-46356932 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.10T>G (p.Leu4Val) SNV Benign/Likely benign 137720 rs114302881 22:46731671-46731671 22:46335774-46335774 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.387A>G (p.Ala129=) SNV Benign/Likely benign 137708 rs144586525 22:46742350-46742350 22:46346453-46346453 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.442G>A (p.Glu148Lys) SNV Benign 137709 rs34012206 22:46742405-46742405 22:46346508-46346508 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.479C>T (p.Ala160Val) SNV Benign 137710 rs35338668 22:46746188-46746188 22:46350291-46350291 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.552C>T (p.Ala184=) SNV Benign 137711 rs35772382 22:46746261-46746261 22:46350364-46350364 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.864C>T (p.Asp288=) SNV Benign 137713 rs61737827 22:46749755-46749755 22:46353858-46353858 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.75G>T (p.Arg25Ser) SNV Benign 137721 rs2272938 22:46731736-46731736 22:46335839-46335839 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.*8G>C SNV Benign 137717 rs55905826 22:46752911-46752911 22:46357014-46357014 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.9C>G (p.Ala3=) SNV Benign 137719 rs75417986 22:46731670-46731670 22:46335773-46335773 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.1176G>A (p.Thr392=) SNV Benign 137715 rs34591580 22:46752813-46752813 22:46356916-46356916 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) SNV Benign 1290 rs11090865 22:46731689-46731689 22:46335792-46335792 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.*151C>T SNV Benign 342025 rs116347546 22:46753054-46753054 22:46357157-46357157 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.*276G>A SNV Benign 342028 rs13585 22:46753179-46753179 22:46357282-46357282 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.*210G>C SNV Benign 342026 rs141551983 22:46753113-46753113 22:46357216-46357216 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.927C>T (p.Arg309=) SNV Benign 342012 rs9627420 22:46751394-46751394 22:46355497-46355497 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.*43T>G SNV Benign 342020 rs113302712 22:46752946-46752946 22:46357049-46357049 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.272A>G (p.Lys91Arg) SNV Benign 215285 rs138044544 22:46739182-46739182 22:46343285-46343285 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.*124G>C SNV Benign 342023 rs116303153 22:46753027-46753027 22:46357130-46357130 LVR030 Liver Failure, Infantile, Transient TRMU NM_018006.5(TRMU):c.880C>T (p.Arg294Trp) SNV not provided 441106 rs773745635 22:46751347-46751347 22:46355450-46355450 LVR030 Liver Failure, Infantile, Transient ABCA4 NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) SNV Pathogenic 7882 rs61751408 1:94471065-94471065 1:94005509-94005509 MCL043 Macular Degeneration, Age-Related, 2 ABCA4 NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) SNV Pathogenic 7904 rs61750130 1:94496666-94496666 1:94031110-94031110 MCL043 Macular Degeneration, Age-Related, 2 ABCA4 NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) SNV Pathogenic 7907 rs61751383 1:94471056-94471056 1:94005500-94005500 MCL043 Macular Degeneration, Age-Related, 2 TRNL1 NC_012920.1:m.3243A>G SNV Pathogenic 9589 rs199474657 MT:3243-3243 MT:3243-3243 MCL043 Macular Degeneration, Age-Related, 2 ABCA4 NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) deletion Pathogenic 99419 rs61751389 1:94473278-94473278 1:94007722-94007722 MCL043 Macular Degeneration, Age-Related, 2 ABCA4 NM_000350.3(ABCA4):c.768G>T (p.Val256=) SNV Pathogenic 99505 rs62645944 1:94564350-94564350 1:94098794-94098794 MCL043 Macular Degeneration, Age-Related, 2 ABCA4 NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter) SNV Pathogenic 99431 rs61753038 1:94471026-94471026 1:94005470-94005470 MCL043 Macular Degeneration, Age-Related, 2 ABCA4 NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) SNV Pathogenic/Likely pathogenic 99108 rs61749420 1:94526296-94526296 1:94060740-94060740 MCL043 Macular Degeneration, Age-Related, 2 ABCA4 NM_000350.3(ABCA4):c.179C>T (p.Ala60Val) SNV Pathogenic/Likely pathogenic 99083 rs55732384 1:94577117-94577117 1:94111561-94111561 MCL043 Macular Degeneration, Age-Related, 2 ABCA4 NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) SNV Pathogenic/Likely pathogenic 99070 rs61748558 1:94528780-94528780 1:94063224-94063224 MCL043 Macular Degeneration, Age-Related, 2 ABCA4 NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) SNV Pathogenic/Likely pathogenic 99428 rs61750641 1:94471055-94471055 1:94005499-94005499 MCL043 Macular Degeneration, Age-Related, 2 ABCA4 NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) SNV Pathogenic/Likely pathogenic 99224 rs1801269 1:94506901-94506901 1:94041345-94041345 MCL043 Macular Degeneration, Age-Related, 2 ABCA4 NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) SNV Pathogenic/Likely pathogenic 99284 rs61750146 1:94495078-94495078 1:94029522-94029522 MCL043 Macular Degeneration, Age-Related, 2 ABCA4 NM_000350.3(ABCA4):c.5461-10T>C SNV Pathogenic/Likely pathogenic 92870 rs1800728 1:94476951-94476951 1:94011395-94011395 MCL043 Macular Degeneration, Age-Related, 2 ABCA4 NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) SNV Pathogenic/Likely pathogenic 7888 rs1800553 1:94473807-94473807 1:94008251-94008251 MCL043 Macular Degeneration, Age-Related, 2 ABCA4 NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) SNV Pathogenic/Likely pathogenic 7894 rs61751374 1:94508969-94508969 1:94043413-94043413 MCL043 Macular Degeneration, Age-Related, 2 ABCA4 NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) SNV Pathogenic/Likely pathogenic 7898 rs61750200 1:94564484-94564484 1:94098928-94098928 MCL043 Macular Degeneration, Age-Related, 2 ABCA4 NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro) SNV Likely pathogenic 236144 rs886044758 1:94471067-94471067 1:94005511-94005511 MCL043 Macular Degeneration, Age-Related, 2 ABCA4 NM_000350.3(ABCA4):c.838A>T (p.Met280Leu) SNV Conflicting interpretations of pathogenicity 265010 rs138682163 1:94548928-94548928 1:94083372-94083372 MCL043 Macular Degeneration, Age-Related, 2 ABCA4 NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) SNV Conflicting interpretations of pathogenicity 99310 rs62646863 1:94568675-94568675 1:94103119-94103119 MCL043 Macular Degeneration, Age-Related, 2 ABCA4 NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys) SNV Uncertain significance 374737 rs138359497 1:94574205-94574205 1:94108649-94108649 MCL043 Macular Degeneration, Age-Related, 2 ABCA4 NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) SNV Uncertain significance 99033 rs61748549 1:94544977-94544977 1:94079421-94079421 MCL043 Macular Degeneration, Age-Related, 2 ABCA4 NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) SNV Benign/Likely benign 7913 rs1801581 1:94512565-94512565 1:94047009-94047009 MCL043 Macular Degeneration, Age-Related, 2 ABCA4 NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) SNV Benign/Likely benign 7885 rs1800555 1:94463617-94463617 1:93998061-93998061 MCL043 Macular Degeneration, Age-Related, 2 TIRAP NM_001039661.1(TIRAP):c.539C>T (p.Ser180Leu) SNV protective 4467 rs8177374 11:126162843-126162843 11:126292948-126292948 MLR004 Malaria FCGR2B NM_004001.4(FCGR2B):c.695T>C (p.Ile232Thr) SNV protective,risk factor 5467 rs1050501 1:161643798-161643798 1:161674008-161674008 MLR004 Malaria NOS2 NG_011470.1:g.3828C>T SNV protective 14013 17:26128728-26128728 17:27801702-27801702 MLR004 Malaria NOS2 NOS2A, -969G-C SNV protective 14014 MLR004 Malaria CR1 CR1, 3650A-G SNV protective 17066 MLR004 Malaria GYPC NM_002101.4(GYPC):c.107_190del (p.Glu36_Ala63del) deletion Pathogenic,protective 17725 rs1553470034 2:127451437-127451520 2:126693861-126693944 MLR004 Malaria SLC4A1 NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) SNV Pathogenic 17764 rs121912745 17:42333076-42333076 17:44255708-44255708 MLR004 Malaria HBB NM_000518.5(HBB):c.52A>T (p.Lys18Ter) SNV Pathogenic 15401 rs33986703 11:5248200-5248200 11:5226970-5226970 MLR004 Malaria HBB NM_000518.5(HBB):c.118C>T (p.Gln40Ter) SNV Pathogenic 15402 rs11549407 11:5248004-5248004 11:5226774-5226774 MLR004 Malaria HBB NM_000518.5(HBB):c.92+1G>A SNV Pathogenic 15436 rs33971440 11:5248159-5248159 11:5226929-5226929 MLR004 Malaria HBB NM_000518.5(HBB):c.315+1G>A SNV Pathogenic 15438 rs33945777 11:5247806-5247806 11:5226576-5226576 MLR004 Malaria HBB NM_000518.5(HBB):c.92+5G>C SNV Pathogenic 15447 rs33915217 11:5248155-5248155 11:5226925-5226925 MLR004 Malaria HBB NM_000518.4(HBB):c.19G>A (p.Glu7Lys) SNV Pathogenic 15126 rs33930165 11:5248233-5248233 11:5227003-5227003 MLR004 Malaria HBB NM_000518.5(HBB):c.79G>A (p.Glu27Lys) SNV Pathogenic 15161 rs33950507 11:5248173-5248173 11:5226943-5226943 MLR004 Malaria G6PD NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) SNV Pathogenic 10363 rs5030869 X:153761205-153761205 X:154532990-154532990 MLR004 Malaria G6PD NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) SNV Pathogenic 10367 rs137852314 X:153762710-153762710 X:154534495-154534495 MLR004 Malaria G6PD NM_000402.4(G6PD):c.1478G>A (p.Arg493His) SNV Pathogenic 100059 rs72554664 X:153760472-153760472 X:154532257-154532257 MLR004 Malaria HBB NM_000518.5(HBB):c.93-21G>A SNV Pathogenic 15454 rs35004220 11:5248050-5248050 11:5226820-5226820 MLR004 Malaria HBB NM_000518.5(HBB):c.316-106C>G SNV Pathogenic 15457 rs34690599 11:5247062-5247062 11:5225832-5225832 MLR004 Malaria HBB NM_000518.5(HBB):c.-79A>G SNV Pathogenic 15469 rs34598529 11:5248330-5248330 11:5227100-5227100 MLR004 Malaria CD36 CD36, G1439C, 1-BP DEL, 1444A deletion Pathogenic,risk factor 13537 MLR004 Malaria G6PD NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) SNV Pathogenic/Likely pathogenic 100057 rs5030868 X:153762634-153762634 X:154534419-154534419 MLR004 Malaria HBB NM_000518.5(HBB):c.-138C>A SNV Pathogenic/Likely pathogenic 393701 rs33944208 11:5248389-5248389 11:5227159-5227159 MLR004 Malaria G6PD NM_000402.4(G6PD):c.961G>A (p.Val321Met) SNV Pathogenic/Likely pathogenic 10386 rs137852327 X:153761337-153761337 X:154533122-154533122 MLR004 Malaria HBB NM_000518.5(HBB):c.-137C>A SNV Pathogenic/Likely pathogenic 36285 rs33941377 11:5248388-5248388 11:5227158-5227158 MLR004 Malaria ICAM1 NM_000201.3(ICAM1):c.167A>T (p.Lys56Met) SNV risk factor 14661 rs5491 19:10385540-10385540 19:10274864-10274864 MLR004 Malaria FCGR2A NM_001136219.3(FCGR2A):c.500A>G (p.His167Arg) SNV drug response 14823 rs1801274 1:161479745-161479745 1:161509955-161509955 MLR004 Malaria CD36 NM_001001547.3(CD36):c.429+2T>C SNV Likely pathogenic 417962 rs3211893 7:80290528-80290528 7:80661212-80661212 MLR004 Malaria CD36 NM_001001547.3(CD36):c.784dup (p.Gln262fs) duplication Likely pathogenic 587500 rs766920034 7:80299302-80299303 7:80669986-80669987 MLR004 Malaria CISH NM_001243926.1(MAPKAPK3):c.-436A>T SNV risk factor 7091 rs414171 3:50649499-50649499 3:50612068-50612068 MLR004 Malaria TNF TNF, -376G-A SNV risk factor 12387 MLR004 Malaria TNF TNF, -308G-A SNV risk factor 12388 MLR004 Malaria CD36 NM_001001547.3(CD36):c.975T>G (p.Tyr325Ter) SNV Conflicting interpretations of pathogenicity 13536 rs3211938 7:80300449-80300449 7:80671133-80671133 MLR004 Malaria G6PD NM_000402.4(G6PD):c.934G>C (p.Asp312His) SNV Conflicting interpretations of pathogenicity 10372 rs137852318 X:153761811-153761811 X:154533596-154533596 MLR004 Malaria G6PD NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) SNV Conflicting interpretations of pathogenicity 100055 rs1050829 X:153763492-153763492 X:154535277-154535277 MLR004 Malaria HBB NM_000518.5(HBB):c.20A>T (p.Glu7Val) SNV Conflicting interpretations of pathogenicity 15333 rs334 11:5248232-5248232 11:5227002-5227002 MLR004 Malaria HBB NM_000518.5(HBB):c.92+6T>C SNV Conflicting interpretations of pathogenicity 15450 rs35724775 11:5248154-5248154 11:5226924-5226924 MLR004 Malaria CD36 NM_001001547.3(CD36):c.1254+1G>A SNV Uncertain significance 417926 rs148051111 7:80302726-80302726 7:80673410-80673410 MLR004 Malaria ICAM1 NM_000201.3(ICAM1):c.1432C>T (p.Arg478Trp) SNV Uncertain significance 828004 19:10395796-10395796 19:10285120-10285120 MLR004 Malaria CD36 NM_001001547.3(CD36):c.701_701+3dup duplication Likely benign 417963 rs1554343345 7:80293811-80293812 7:80664495-80664496 MLR004 Malaria AMN NM_030943.3(AMN):c.318_319CT[3] (p.Asp108fs) short repeat Pathogenic 523538 rs1555381324 14:103395116-103395117 14:102928779-102928780 MGL001 Megaloblastic Anemia CUBN NM_001081.3(CUBN):c.*162G>A SNV Uncertain significance 299349 rs558891678 10:16866812-16866812 10:16824813-16824813 MGL001 Megaloblastic Anemia CUBN NM_001081.4(CUBN):c.3008+9_3008+12dup duplication Uncertain significance 299495 rs772081536 10:17110050-17110051 10:17068051-17068052 MGL001 Megaloblastic Anemia CUBN NM_001081.4(CUBN):c.2446+14_2446+15del short repeat Uncertain significance 299507 rs752528712 10:17113811-17113812 10:17071812-17071813 MGL001 Megaloblastic Anemia CUBN NM_001081.3(CUBN):c.1110A>C (p.Leu370=) SNV Uncertain significance 299529 rs886046878 10:17151640-17151640 10:17109641-17109641 MGL001 Megaloblastic Anemia CUBN NM_001081.3(CUBN):c.8062+5G>A SNV Uncertain significance 299412 rs886046866 10:16945960-16945960 10:16903961-16903961 MGL001 Megaloblastic Anemia CUBN NM_001081.3(CUBN):c.7352-7A>C SNV Uncertain significance 299425 rs886046869 10:16955998-16955998 10:16913999-16913999 MGL001 Megaloblastic Anemia AMN NM_030943.3(AMN):c.149T>C (p.Phe50Ser) SNV Uncertain significance 523537 rs772475317 14:103390153-103390153 14:102923816-102923816 MGL001 Megaloblastic Anemia ZMYND11 NM_001330057.1(ZMYND11):c.-125C>T SNV Pathogenic 393552 rs1060499626 10:225974-225974 10:180034-180034 MNT219 Mental Retardation, Autosomal Dominant 30 ZMYND11 NM_006624.5(ZMYND11):c.383del (p.Ser128fs) deletion Pathogenic 431092 rs1135401771 10:267241-267241 10:221301-221301 MNT219 Mental Retardation, Autosomal Dominant 30 ZMYND11 NM_006624.5(ZMYND11):c.76C>T (p.Arg26Trp) SNV Pathogenic 431123 rs1135401797 10:226028-226028 10:180088-180088 MNT219 Mental Retardation, Autosomal Dominant 30 ZMYND11 NM_006624.5(ZMYND11):c.1756_1758CAG[1] (p.Gln587del) short repeat Pathogenic 157550 rs606231266 10:298357-298359 10:252417-252419 MNT219 Mental Retardation, Autosomal Dominant 30 ZMYND11 NM_001370124.1(ZMYND11):c.-33-26860dup duplication Pathogenic 157551 rs606231267 10:255917-255918 10:209977-209978 MNT219 Mental Retardation, Autosomal Dominant 30 ZMYND11 NM_006624.5(ZMYND11):c.976C>T (p.Gln326Ter) SNV Pathogenic 157552 rs672601340 10:292731-292731 10:246791-246791 MNT219 Mental Retardation, Autosomal Dominant 30 ZMYND11 NM_006624.5(ZMYND11):c.1246_1247del (p.Glu416fs) deletion Pathogenic 157553 rs606231268 10:294293-294294 10:248353-248354 MNT219 Mental Retardation, Autosomal Dominant 30 ZMYND11 NM_001370100.5(ZMYND11):c.561del (p.Met187fs) deletion Pathogenic 157554 rs672601341 10:283569-283569 10:237629-237629 MNT219 Mental Retardation, Autosomal Dominant 30 ZMYND11 NM_006624.5(ZMYND11):c.1798C>T (p.Arg600Trp) SNV Pathogenic 208648 rs797044854 10:298399-298399 10:252459-252459 MNT219 Mental Retardation, Autosomal Dominant 30 ZMYND11 NM_006624.5(ZMYND11):c.1262G>A (p.Ser421Asn) SNV Likely pathogenic 225254 rs869320713 10:294310-294310 10:248370-248370 MNT219 Mental Retardation, Autosomal Dominant 30 ATP6AP2 NM_005765.3(ATP6AP2):c.301-11_301-10del deletion Pathogenic 869368 X:40456490-40456491 X:40597238-40597239 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type ATP6AP2 NM_005765.3(ATP6AP2):c.321C>T (p.Asp107=) SNV Pathogenic 10801 rs121918521 X:40456521-40456521 X:40597269-40597269 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type ATP6AP2 NM_005765.3(ATP6AP2):c.168+6T>A SNV Pathogenic 375269 rs1057519331 X:40448374-40448374 X:40589122-40589122 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type ATP6AP2 NM_005765.3(ATP6AP2):c.490G>A (p.Val164Ile) SNV Conflicting interpretations of pathogenicity 204912 rs142013283 X:40456872-40456872 X:40597620-40597620 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type ATP6AP2 NM_005765.3(ATP6AP2):c.922A>C (p.Asn308His) SNV Conflicting interpretations of pathogenicity 380358 rs756836341 X:40464876-40464876 X:40605624-40605624 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type ATP6AP2 NM_005765.3(ATP6AP2):c.408G>A (p.Met136Ile) SNV Uncertain significance 465129 rs1555977799 X:40456790-40456790 X:40597538-40597538 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type ATP6AP2 NM_005765.3(ATP6AP2):c.953C>A (p.Ala318Asp) SNV Uncertain significance 465132 rs1555978614 X:40464907-40464907 X:40605655-40605655 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type ATP6AP2 NM_005765.3(ATP6AP2):c.840C>G (p.Ile280Met) SNV Uncertain significance 465131 rs1555978066 X:40460115-40460115 X:40600863-40600863 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type NYX NC_000023.10:g.(?_39911342)_(41782261_?)dup duplication Uncertain significance 533692 X:39911342-41782261 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type USP9X NC_000023.10:g.(?_39911342)_(41782261_?)dup duplication Uncertain significance 533692 X:39911342-41782261 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type CASK NC_000023.10:g.(?_39911342)_(41782261_?)dup duplication Uncertain significance 533692 X:39911342-41782261 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type DDX3X NC_000023.10:g.(?_39911342)_(41782261_?)dup duplication Uncertain significance 533692 X:39911342-41782261 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type ATP6AP2 NM_005765.3(ATP6AP2):c.858G>A (p.Ala286=) SNV Uncertain significance 533691 rs1555978069 X:40460133-40460133 X:40600881-40600881 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type ATP6AP2 NC_000023.11:g.(?_40581046)_(40605775_?)dup duplication Uncertain significance 832810 X:40440298-40465027 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type ATP6AP2 NM_005765.3(ATP6AP2):c.50A>G (p.Asn17Ser) SNV Uncertain significance 862603 X:40448250-40448250 X:40588998-40588998 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type ATP6AP2 NM_005765.3(ATP6AP2):c.160G>T (p.Val54Leu) SNV Uncertain significance 852040 X:40448360-40448360 X:40589108-40589108 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type ATP6AP2 NM_005765.3(ATP6AP2):c.218G>A (p.Arg73Gln) SNV Uncertain significance 861472 X:40450535-40450535 X:40591283-40591283 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type ATP6AP2 NM_005765.3(ATP6AP2):c.1015A>G (p.Ile339Val) SNV Uncertain significance 854936 X:40464969-40464969 X:40605717-40605717 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type ATP6AP2 NM_005765.3(ATP6AP2):c.315T>G (p.Ser105Arg) SNV Uncertain significance 204917 rs745748841 X:40456515-40456515 X:40597263-40597263 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type ATP6AP2 NM_005765.3(ATP6AP2):c.463C>T (p.Arg155Cys) SNV Uncertain significance 204911 rs146371390 X:40456845-40456845 X:40597593-40597593 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type ATP6AP2 NM_005765.3(ATP6AP2):c.596G>A (p.Arg199His) SNV Uncertain significance 204918 rs751433380 X:40458851-40458851 X:40599599-40599599 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type ATP6AP2 NM_005765.3(ATP6AP2):c.516T>C (p.Ser172=) SNV Likely benign 759346 X:40456898-40456898 X:40597646-40597646 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type ATP6AP2 NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=) SNV Benign/Likely benign 136463 rs150392503 X:40450506-40450506 X:40591254-40591254 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type ATP6AP2 NM_005765.3(ATP6AP2):c.38-5T>C SNV Benign 136465 rs190477001 X:40448233-40448233 X:40588981-40588981 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type ATP6AP2 NM_005765.3(ATP6AP2):c.1050T>C (p.Asp350=) SNV Benign 199113 rs79790275 X:40465004-40465004 X:40605752-40605752 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type ATP6AP2 NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala) SNV Benign 95311 rs9014 X:40450585-40450585 X:40591333-40591333 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type ATP6AP2 NM_005765.3(ATP6AP2):c.285G>A (p.Ser95=) SNV Benign 128486 rs34217273 X:40450602-40450602 X:40591350-40591350 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type ATP6AP2 NM_005765.3(ATP6AP2):c.868G>C (p.Ala290Pro) SNV Benign 128487 rs35798522 X:40464822-40464822 X:40605570-40605570 MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type DHX30 NM_138615.3(DHX30):c.1685A>G (p.His562Arg) SNV Pathogenic 402130 rs1060499733 3:47888247-47888247 3:47846757-47846757 MCR010 Microcephaly POGZ NM_015100.4(POGZ):c.2771del (p.Pro924fs) deletion Pathogenic 523510 rs1553212868 1:151378740-151378740 1:151406264-151406264 MCR010 Microcephaly FLG NM_002016.1(FLG):c.544A>T (p.Lys182Ter) SNV Pathogenic 523448 rs1218912272 1:152286818-152286818 1:152314342-152314342 MCR010 Microcephaly CC2D2A NM_001080522.2(CC2D2A):c.1149+1G>A SNV Pathogenic 523401 rs1553827236 4:15518380-15518380 4:15516757-15516757 MCR010 Microcephaly NIPBL NM_133433.4(NIPBL):c.7459del (p.Glu2487fs) deletion Pathogenic 523556 rs1554034812 5:37059040-37059040 5:37058938-37058938 MCR010 Microcephaly STXBP1 NM_003165.4(STXBP1):c.733C>G (p.His245Asp) SNV Pathogenic 523457 rs1554777480 9:130428514-130428514 9:127666235-127666235 MCR010 Microcephaly RAI1 GRCh37/hg19 17p11.2(chr17:16936603-18184130) copy number loss Pathogenic 523258 17:16936603-18184130 MCR010 Microcephaly RAP1GAP2 GRCh37/hg19 17p13.3(chr17:2339561-2826073) copy number loss Pathogenic 523261 17:2339561-2826073 MCR010 Microcephaly CLUH GRCh37/hg19 17p13.3(chr17:2339561-2826073) copy number loss Pathogenic 523261 17:2339561-2826073 MCR010 Microcephaly METTL16 GRCh37/hg19 17p13.3(chr17:2339561-2826073) copy number loss Pathogenic 523261 17:2339561-2826073 MCR010 Microcephaly PAFAH1B1 GRCh37/hg19 17p13.3(chr17:2339561-2826073) copy number loss Pathogenic 523261 17:2339561-2826073 MCR010 Microcephaly SLC2A1 NM_006516.3(SLC2A1):c.859A>C (p.Ile287Leu) SNV Pathogenic 625201 1:43395272-43395272 1:42929601-42929601 MCR010 Microcephaly SVBP NM_199342.4(SVBP):c.82C>T (p.Gln28Ter) SNV Pathogenic 635968 1:43282134-43282134 1:42816463-42816463 MCR010 Microcephaly SVBP NM_199342.4(SVBP):c.39_42del (p.Lys13fs) deletion Pathogenic 635969 1:43282174-43282177 1:42816503-42816506 MCR010 Microcephaly TAF8 NM_138572.3(TAF8):c.781-1G>A SNV Pathogenic 638647 6:42044837-42044837 6:42077099-42077099 MCR010 Microcephaly PAK3 NM_002578.5(PAK3):c.976G>C (p.Val326Leu) SNV Pathogenic 684413 X:110435830-110435830 X:111192602-111192602 MCR010 Microcephaly MFSD2A NM_032793.5(MFSD2A):c.229-25_229-23del deletion Pathogenic 684729 1:40424346-40424348 1:39958674-39958676 MCR010 Microcephaly HARS1 NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu) SNV Pathogenic 804288 5:140054329-140054329 5:140674744-140674744 MCR010 Microcephaly HARS1 NM_002109.6(HARS1):c.910_912dup (p.Leu305dup) duplication Pathogenic 804287 5:140056612-140056613 5:140677027-140677028 MCR010 Microcephaly CDK5RAP2 NM_018249.6(CDK5RAP2):c.250C>T (p.Leu84Phe) SNV Pathogenic 812994 9:123313126-123313126 9:120550848-120550848 MCR010 Microcephaly DDX3X NM_001356.5(DDX3X):c.1746del (p.Ser583fs) deletion Pathogenic 870099 X:41206242-41206242 X:41346989-41346989 MCR010 Microcephaly GRM7 NM_000844.4(GRM7):c.1180G>A (p.Glu394Lys) SNV Pathogenic 870348 3:7494299-7494299 3:7452612-7452612 MCR010 Microcephaly GRIN2B NM_000834.5(GRIN2B):c.1439_1446del (p.Leu480fs) deletion Pathogenic 916029 12:13768481-13768488 12:13615547-13615554 MCR010 Microcephaly MFN2 NM_014874.3(MFN2):c.280C>T (p.Arg94Trp) SNV Pathogenic 2276 rs119103263 1:12052716-12052716 1:11992659-11992659 MCR010 Microcephaly SBDS NM_016038.4(SBDS):c.258+2T>C SNV Pathogenic 3196 rs113993993 7:66459197-66459197 7:66994210-66994210 MCR010 Microcephaly SMARCAL1 NM_001127207.2(SMARCAL1):c.2542G>T (p.Glu848Ter) SNV Pathogenic 4171 rs119473033 2:217342939-217342939 2:216478216-216478216 MCR010 Microcephaly PLA2G6 NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr) SNV Pathogenic 6196 rs121908681 22:38516874-38516874 22:38120867-38120867 MCR010 Microcephaly NBN NM_002485.5(NBN):c.657_661del (p.Lys219fs) deletion Pathogenic 6940 rs587776650 8:90983442-90983446 8:89971214-89971218 MCR010 Microcephaly KCNJ10 NM_002241.5(KCNJ10):c.194G>C (p.Arg65Pro) SNV Pathogenic 7462 rs137853066 1:160012129-160012129 1:160042339-160042339 MCR010 Microcephaly COL7A1 NM_000094.3(COL7A1):c.706C>T (p.Arg236Ter) SNV Pathogenic 17462 rs121912854 3:48630348-48630348 3:48592915-48592915 MCR010 Microcephaly COL7A1 NM_000094.3(COL7A1):c.6205C>T (p.Arg2069Cys) SNV Pathogenic 17463 rs121912855 3:48612651-48612651 3:48575218-48575218 MCR010 Microcephaly EXOSC3 NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) SNV Pathogenic 31691 rs387907196 9:37784950-37784950 9:37784953-37784953 MCR010 Microcephaly PTPN11 NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) SNV Pathogenic 40513 rs397507520 12:112891083-112891083 12:112453279-112453279 MCR010 Microcephaly CC2D2A NM_001080522.2(CC2D2A):c.4179+1del deletion Pathogenic 56312 rs386833760 4:15589552-15589552 4:15587929-15587929 MCR010 Microcephaly ATRX NM_000489.5(ATRX):c.7156C>T (p.Arg2386Ter) SNV Pathogenic 11728 rs122445099 X:76776310-76776310 X:77520832-77520832 MCR010 Microcephaly VPS13B NM_017890.4(VPS13B):c.1219C>T (p.Gln407Ter) SNV Pathogenic 56645 rs386834070 8:100146872-100146872 8:99134644-99134644 MCR010 Microcephaly DYRK1A NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter) SNV Pathogenic 162153 rs724159949 21:38858865-38858865 21:37486563-37486563 MCR010 Microcephaly DYRK1A NM_001347721.2(DYRK1A):c.594_597delinsGAA (p.Glu199fs) indel Pathogenic 162154 rs724159950 21:38858873-38858876 21:37486571-37486574 MCR010 Microcephaly DYRK1A NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter) SNV Pathogenic 162152 rs724159948 21:38862575-38862575 21:37490273-37490273 MCR010 Microcephaly DYRK1A NM_001347721.2(DYRK1A):c.817dup (p.Ser273fs) duplication Pathogenic 162159 rs724159954 21:38862655-38862656 21:37490353-37490354 MCR010 Microcephaly DYRK1A NM_001347721.2(DYRK1A):c.918dup (p.Gln307fs) duplication Pathogenic 162156 rs724159952 21:38862753-38862754 21:37490451-37490452 MCR010 Microcephaly DYRK1A NM_001347721.2(DYRK1A):c.1205dup (p.Arg404fs) duplication Pathogenic 162161 rs724159956 21:38868551-38868552 21:37496249-37496250 MCR010 Microcephaly DYRK1A NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter) SNV Pathogenic 162158 rs724159953 21:38877655-38877655 21:37505352-37505352 MCR010 Microcephaly TCF4 NM_001083962.2(TCF4):c.1733G>A (p.Arg578His) SNV Pathogenic 93542 rs121909123 18:52896224-52896224 18:55228993-55228993 MCR010 Microcephaly SMC1A NM_001281463.1(SMC1A):c.730_732AAG[2] (p.Lys246del) short repeat Pathogenic 180197 rs727503773 X:53439900-53439902 X:53412950-53412952 MCR010 Microcephaly SPART NM_015087.5(SPART):c.1450dup (p.Thr484fs) duplication Pathogenic 183277 rs730882198 13:36888396-36888397 13:36314259-36314260 MCR010 Microcephaly SLC2A1 NM_006516.3(SLC2A1):c.988C>T (p.Arg330Ter) SNV Pathogenic 207196 rs80359826 1:43394689-43394689 1:42929018-42929018 MCR010 Microcephaly PPP2R1A NM_014225.6(PPP2R1A):c.773G>A (p.Arg258His) SNV Pathogenic 217458 rs863225094 19:52716329-52716329 19:52213076-52213076 MCR010 Microcephaly ANKLE2 NM_015114.3(ANKLE2):c.2344C>T (p.Gln782Ter) SNV Pathogenic 218245 rs201785518 12:133306404-133306404 12:132729818-132729818 MCR010 Microcephaly PTEN NM_000314.7(PTEN):c.203A>G (p.Tyr68Cys) SNV Pathogenic 233777 rs876660634 10:89685308-89685308 10:87925551-87925551 MCR010 Microcephaly TUBB4A NM_006087.4(TUBB4A):c.1164G>A (p.Met388Ile) SNV Pathogenic 267792 rs797045074 19:6495346-6495346 19:6495335-6495335 MCR010 Microcephaly ATP2B3 NM_001001344.2(ATP2B3):c.3594G>T (p.Lys1198Asn) SNV Pathogenic 242886 rs782596945 X:152845687-152845687 X:153580229-153580229 MCR010 Microcephaly HDAC8 NM_018486.3(HDAC8):c.496C>T (p.Arg166Ter) SNV Pathogenic 280793 rs886041936 X:71715060-71715060 X:72495210-72495210 MCR010 Microcephaly SLC2A1 NM_006516.3(SLC2A1):c.470dup (p.Thr158fs) duplication Pathogenic 373993 rs1057518821 1:43396342-43396343 1:42930671-42930672 MCR010 Microcephaly SMARCAL1 NM_001127207.2(SMARCAL1):c.723C>A (p.Cys241Ter) SNV Pathogenic 374208 rs748106387 2:217280150-217280150 2:216415427-216415427 MCR010 Microcephaly VPS13B NM_017890.4(VPS13B):c.4620del (p.Ser1541fs) deletion Pathogenic 374163 rs1057518939 8:100523652-100523652 8:99511424-99511424 MCR010 Microcephaly DHX30 NM_138615.3(DHX30):c.1478G>A (p.Arg493His) SNV Pathogenic 375374 rs1057519436 3:47888040-47888040 3:47846550-47846550 MCR010 Microcephaly DHX30 NM_138615.3(DHX30):c.2344C>T (p.Arg782Trp) SNV Pathogenic 375373 rs753242774 3:47889727-47889727 3:47848237-47848237 MCR010 Microcephaly DIAPH1 NM_005219.5(DIAPH1):c.2332C>T (p.Gln778Ter) SNV Pathogenic/Likely pathogenic 183344 rs730882242 5:140953085-140953085 5:141573518-141573518 MCR010 Microcephaly AP4M1 NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter) SNV Pathogenic/Likely pathogenic 183357 rs730882249 7:99703604-99703604 7:100105981-100105981 MCR010 Microcephaly TSEN54 NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) SNV Pathogenic/Likely pathogenic 2120 rs113994152 17:73518081-73518081 17:75522000-75522000 MCR010 Microcephaly GEMIN4 NM_015721.3(GEMIN4):c.2452T>C (p.Trp818Arg) SNV Pathogenic/Likely pathogenic 183310 rs730882219 17:648831-648831 17:745591-745591 MCR010 Microcephaly MECP2 NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) SNV Pathogenic/Likely pathogenic 11823 rs28934908 X:153296860-153296860 X:154031409-154031409 MCR010 Microcephaly VPS13B NM_017890.4(VPS13B):c.11314C>T (p.Gln3772Ter) SNV Pathogenic/Likely pathogenic 56635 rs386834061 8:100880540-100880540 8:99868312-99868312 MCR010 Microcephaly PQBP1 NM_144495.2(PQBP1):c.293-341AG[4] short repeat Pathogenic/Likely pathogenic 10980 rs606231193 X:48759668-48759671 X:48902391-48902394 MCR010 Microcephaly CAMK2B NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) SNV Pathogenic/Likely pathogenic 430922 rs1554389088 7:44283125-44283125 7:44243526-44243526 MCR010 Microcephaly SBDS NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) SNV Pathogenic/Likely pathogenic 449095 rs120074160 7:66459273-66459273 7:66994286-66994286 MCR010 Microcephaly ASPM NM_018136.5(ASPM):c.1727_1728AG[1] (p.Ser577fs) short repeat Pathogenic/Likely pathogenic 402179 rs199422146 1:197111652-197111653 1:197142522-197142523 MCR010 Microcephaly CINP NM_032630.3(CINP):c.637T>G (p.Ter213Gly) SNV Likely pathogenic 402142 rs1060499740 14:102814896-102814896 14:102348559-102348559 MCR010 Microcephaly KIF23 NM_138555.4(KIF23):c.755T>A (p.Leu252His) SNV Likely pathogenic 402143 rs748016594 15:69718429-69718429 15:69426090-69426090 MCR010 Microcephaly ATRX NM_000489.5(ATRX):c.1676C>T (p.Ser559Leu) SNV Likely pathogenic 402182 rs1060499760 X:76939072-76939072 X:77683580-77683580 MCR010 Microcephaly ATRX NM_000489.5(ATRX):c.533T>A (p.Val178Asp) SNV Likely pathogenic 402181 rs1060499759 X:76944372-76944372 X:77688879-77688879 MCR010 Microcephaly ASPM NM_018136.5(ASPM):c.9084+5G>A SNV Likely pathogenic 402180 rs1060499758 1:197063209-197063209 1:197094079-197094079 MCR010 Microcephaly ASPM NM_018136.5(ASPM):c.7571_7572GA[1] (p.Glu2525fs) short repeat Likely pathogenic 402178 rs1060499757 1:197070807-197070808 1:197101677-197101678 MCR010 Microcephaly ARID1A NM_006015.6(ARID1A):c.5090A>G (p.Asp1697Gly) SNV Likely pathogenic 523488 rs375761808 1:27102164-27102164 1:26775673-26775673 MCR010 Microcephaly SATB2 NM_001172509.2(SATB2):c.1990C>T (p.Gln664Ter) SNV Likely pathogenic 523422 rs1553538917 2:200137146-200137146 2:199272423-199272423 MCR010 Microcephaly CTNNB1 NM_001904.4(CTNNB1):c.1876G>T (p.Glu626Ter) SNV Likely pathogenic 523403 rs1553632357 3:41277912-41277912 3:41236421-41236421 MCR010 Microcephaly GRIN2B NM_000834.4(GRIN2B):c.2216T>G (p.Met739Arg) SNV Likely pathogenic 523381 rs1555103652 12:13722907-13722907 12:13569973-13569973 MCR010 Microcephaly BCL11A NM_022893.4(BCL11A):c.152G>C (p.Cys51Ser) SNV Likely pathogenic 598955 rs1558519731 2:60773339-60773339 2:60546204-60546204 MCR010 Microcephaly QARS1 NM_005051.3(QARS1):c.1430A>G (p.Tyr477Cys) SNV Likely pathogenic 598953 rs1172486173 3:49137039-49137039 3:49099606-49099606 MCR010 Microcephaly QARS1 NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys) SNV Likely pathogenic 598952 rs185476065 3:49137655-49137655 3:49100222-49100222 MCR010 Microcephaly PLAA NM_001031689.3(PLAA):c.1487-1G>A SNV Likely pathogenic 598964 rs1426488816 9:26913946-26913946 9:26913948-26913948 MCR010 Microcephaly ALG13 NM_001099922.3(ALG13):c.50T>A (p.Ile17Asn) SNV Likely pathogenic 598969 rs1569508922 X:110924496-110924496 X:111681268-111681268 MCR010 Microcephaly LEMD2 NM_181336.4(LEMD2):c.1436C>T (p.Ser479Phe) SNV Likely pathogenic 917488 6:33740481-33740481 6:33772704-33772704 MCR010 Microcephaly DHX34 NM_014681.6(DHX34):c.1322A>G (p.Asn441Ser) SNV Likely pathogenic 691940 19:47863274-47863274 19:47360017-47360017 MCR010 Microcephaly WDR81 NM_001163809.2(WDR81):c.3667+186_4158-227del deletion Likely pathogenic 812927 17:1632106-1635392 17:1728812-1732098 MCR010 Microcephaly CASK deletion Likely pathogenic 812932 X:41458916-41537987 MCR010 Microcephaly RBM10 NM_005676.5(RBM10):c.355_358del (p.Glu119fs) deletion Likely pathogenic 689369 X:47030579-47030582 X:47171180-47171183 MCR010 Microcephaly INPP4A NM_001134225.2(INPP4A):c.350_351TC[1] (p.Ser118fs) short repeat Likely pathogenic 804386 2:99152270-99152271 2:98535807-98535808 MCR010 Microcephaly TRIO NM_007118.4(TRIO):c.2560C>T (p.Gln854Ter) SNV Likely pathogenic 812764 5:14364009-14364009 5:14363900-14363900 MCR010 Microcephaly SYNGAP1 NM_006772.3(SYNGAP1):c.3506_3507AG[1] (p.Ser1170fs) short repeat Likely pathogenic 812767 6:33412317-33412318 6:33444540-33444541 MCR010 Microcephaly PQBP1 NM_144495.2(PQBP1):c.437_439AGC[1] (p.Gln147del) short repeat Likely pathogenic 637970 X:48760284-48760286 X:48903007-48903009 MCR010 Microcephaly ACTB NM_001101.5(ACTB):c.179G>A (p.Ser60Asn) SNV Likely pathogenic 638167 7:5568976-5568976 7:5529345-5529345 MCR010 Microcephaly PRORP NM_014672.4(PRORP):c.1197dup (p.Ser400fs) duplication Likely pathogenic 638210 14:35649901-35649902 14:35180695-35180696 MCR010 Microcephaly PRORP NM_014672.4(PRORP):c.1334G>A (p.Arg445Gln) SNV Likely pathogenic 638209 14:35735991-35735991 14:35266785-35266785 MCR010 Microcephaly ZIC2 NM_007129.5(ZIC2):c.1225C>T (p.Arg409Trp) SNV Likely pathogenic 635857 13:100637349-100637349 13:99985095-99985095 MCR010 Microcephaly ATRX NM_000489.5(ATRX):c.5026G>T (p.Gly1676Cys) SNV Likely pathogenic 523371 rs1557106484 X:76888803-76888803 X:77633315-77633315 MCR010 Microcephaly BCS1L NM_001079866.2(BCS1L):c.518G>A (p.Gly173Asp) SNV Likely pathogenic 625208 2:219526539-219526539 2:218661816-218661816 MCR010 Microcephaly SCN1A NM_001165963.4(SCN1A):c.4970G>A (p.Arg1657His) SNV Likely pathogenic 68559 rs121917994 2:166848815-166848815 2:165992305-165992305 MCR010 Microcephaly DYRK1A NM_001347721.2(DYRK1A):c.1009T>C (p.Ser337Pro) SNV Likely pathogenic 162155 rs724159951 21:38865403-38865403 21:37493101-37493101 MCR010 Microcephaly MATN4 NM_003833.4(MATN4):c.515G>C (p.Gly172Ala) SNV Likely pathogenic 183295 rs730882210 20:43932996-43932996 20:45304356-45304356 MCR010 Microcephaly MTSS2 NM_138383.3(MTSS2):c.1790C>T (p.Thr597Met) SNV Likely pathogenic 183351 rs531163149 16:70698034-70698034 16:70664131-70664131 MCR010 Microcephaly ARL14EP NM_152316.3(ARL14EP):c.653G>A (p.Gly218Glu) SNV Likely pathogenic 183284 rs730882201 11:30358212-30358212 11:30336665-30336665 MCR010 Microcephaly PCDHB4 NM_018938.4(PCDHB4):c.915del (p.Lys305fs) deletion Likely pathogenic 183300 rs372292910 5:140502487-140502487 5:141122905-141122905 MCR010 Microcephaly DYRK1A NM_001347721.2(DYRK1A):c.1736C>A (p.Thr579Asn) SNV Likely pathogenic 162160 rs724159955 21:38884305-38884305 21:37512002-37512002 MCR010 Microcephaly KDM2B NM_032590.5(KDM2B):c.3050G>A (p.Arg1017His) SNV Likely pathogenic 242896 rs782304760 12:121880194-121880194 12:121442391-121442391 MCR010 Microcephaly BORCS5 NM_058169.6(BORCS5):c.203-1G>T SNV Likely pathogenic 242898 rs1555155556 12:12588561-12588561 12:12435627-12435627 MCR010 Microcephaly AAR2 NM_001271874.2(AAR2):c.520G>A (p.Val174Met) SNV Likely pathogenic 242897 rs746800707 20:34828310-34828310 20:36240388-36240388 MCR010 Microcephaly ANKLE2 NM_015114.3(ANKLE2):c.1717C>G (p.Leu573Val) SNV Likely pathogenic 218246 rs863225465 12:133311145-133311145 12:132734559-132734559 MCR010 Microcephaly MED12 NM_005120.3(MED12):c.4342G>A (p.Gly1448Arg) SNV Likely pathogenic 374138 rs1057518921 X:70352315-70352315 X:71132465-71132465 MCR010 Microcephaly KIF11 NM_004523.4(KIF11):c.862_871del (p.Ile288fs) deletion Likely pathogenic 374219 rs1057518980 10:94373203-94373212 10:92613446-92613455 MCR010 Microcephaly EP300 NM_001429.4(EP300):c.2161dup (p.Ala721fs) duplication Likely pathogenic 374252 rs1057519012 22:41543868-41543869 22:41147864-41147865 MCR010 Microcephaly DYNC1H1 NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys) SNV Likely pathogenic 374190 rs1057518961 14:102478787-102478787 14:102012450-102012450 MCR010 Microcephaly ARID1B NM_020732.3(ARID1B):c.4110G>A (p.Pro1370=) SNV Conflicting interpretations of pathogenicity 210291 rs797045277 6:157520041-157520041 6:157198907-157198907 MCR010 Microcephaly EPM2A NM_005670.4(EPM2A):c.376A>G (p.Ile126Val) SNV Conflicting interpretations of pathogenicity 167038 rs150452237 6:146007358-146007358 6:145686222-145686222 MCR010 Microcephaly MECP2 NM_001110792.2(MECP2):c.915C>G (p.Ile305Met) SNV Conflicting interpretations of pathogenicity 156671 rs587783140 X:153296400-153296400 X:154030949-154030949 MCR010 Microcephaly BCS1L NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys) SNV Conflicting interpretations of pathogenicity 625207 rs369691608 2:219525978-219525978 2:218661255-218661255 MCR010 Microcephaly MEFV NM_000243.2(MEFV):c.2080A>G (p.Met694Val) SNV Conflicting interpretations of pathogenicity 2538 rs61752717 16:3293407-3293407 16:3243407-3243407 MCR010 Microcephaly NSMCE2 NM_173685.4(NSMCE2):c.465T>G (p.Asp155Glu) SNV Uncertain significance 873019 MCR010 Microcephaly WDR62 NM_001083961.2(WDR62):c.4283T>C (p.Phe1428Ser) SNV Uncertain significance 689596 19:36595549-36595549 19:36104647-36104647 MCR010 Microcephaly PHACTR1 GRCh37/hg19 6p24.1-23(chr6:12536624-13968949) copy number gain Uncertain significance 523282 6:12536624-13968949 MCR010 Microcephaly RANBP9 GRCh37/hg19 6p24.1-23(chr6:12536624-13968949) copy number gain Uncertain significance 523282 6:12536624-13968949 MCR010 Microcephaly RNF182 GRCh37/hg19 6p24.1-23(chr6:12536624-13968949) copy number gain Uncertain significance 523282 6:12536624-13968949 MCR010 Microcephaly SIRT5 GRCh37/hg19 6p24.1-23(chr6:12536624-13968949) copy number gain Uncertain significance 523282 6:12536624-13968949 MCR010 Microcephaly TBC1D7 GRCh37/hg19 6p24.1-23(chr6:12536624-13968949) copy number gain Uncertain significance 523282 6:12536624-13968949 MCR010 Microcephaly GFOD1 GRCh37/hg19 6p24.1-23(chr6:12536624-13968949) copy number gain Uncertain significance 523282 6:12536624-13968949 MCR010 Microcephaly MCUR1 GRCh37/hg19 6p24.1-23(chr6:12536624-13968949) copy number gain Uncertain significance 523282 6:12536624-13968949 MCR010 Microcephaly NOL7 GRCh37/hg19 6p24.1-23(chr6:12536624-13968949) copy number gain Uncertain significance 523282 6:12536624-13968949 MCR010 Microcephaly CERT1 NM_001130105.1(CERT1):c.223_233del (p.Arg75fs) deletion Uncertain significance 689370 5:74807184-74807194 5:75511359-75511369 MCR010 Microcephaly BCORL1 NM_021946.4(BCORL1):c.532A>G (p.Thr178Ala) SNV Uncertain significance 598967 rs778220343 X:129147280-129147280 X:130013304-130013304 MCR010 Microcephaly FLNA NM_001110556.2(FLNA):c.3934C>T (p.Arg1312Cys) SNV Uncertain significance 617640 rs781928289 X:153588145-153588145 X:154359777-154359777 MCR010 Microcephaly ZNF778 NM_001201407.1(ZNF778):c.1894C>T (p.Leu632Phe) SNV Uncertain significance 619121 rs760873642 16:89294590-89294590 16:89228182-89228182 MCR010 Microcephaly DYNC1H1 NM_001376.5(DYNC1H1):c.9930G>A (p.Met3310Ile) SNV Uncertain significance 523440 rs1555411304 14:102498655-102498655 14:102032318-102032318 MCR010 Microcephaly EP300 NM_001429.4(EP300):c.2027G>C (p.Gly676Ala) SNV Uncertain significance 523442 rs1555908795 22:41537200-41537200 22:41141196-41141196 MCR010 Microcephaly SLC9A6 NM_001042537.1(SLC9A6):c.1346C>A (p.Ala449Glu) SNV Uncertain significance 523398 rs1556619324 X:135098913-135098913 X:136016754-136016754 MCR010 Microcephaly BCOR NM_001123385.2(BCOR):c.4693A>G (p.Thr1565Ala) SNV Uncertain significance 523408 rs1289349820 X:39914669-39914669 X:40055416-40055416 MCR010 Microcephaly SH3KBP1 GRCh37/hg19 Xp22.13-22.12(chrX:19030055-19591281) copy number gain Uncertain significance 523297 X:19030055-19591281 MCR010 Microcephaly ADGRG2 GRCh37/hg19 Xp22.13-22.12(chrX:19030055-19591281) copy number gain Uncertain significance 523297 X:19030055-19591281 MCR010 Microcephaly MAP3K15 GRCh37/hg19 Xp22.13-22.12(chrX:19030055-19591281) copy number gain Uncertain significance 523297 X:19030055-19591281 MCR010 Microcephaly PDHA1 GRCh37/hg19 Xp22.13-22.12(chrX:19030055-19591281) copy number gain Uncertain significance 523297 X:19030055-19591281 MCR010 Microcephaly TUBGCP5 NM_052903.6(TUBGCP5):c.2180T>G (p.Phe727Cys) SNV Uncertain significance 523634 rs1555436162 15:22864222-22864222 15:23008846-23008846 MCR010 Microcephaly VARS1 NM_006295.3(VARS1):c.3214T>C (p.Phe1072Leu) SNV Uncertain significance 559443 rs1230283665 6:31747459-31747459 6:31779682-31779682 MCR010 Microcephaly MMAA NM_172250.3(MMAA):c.304G>A (p.Ala102Thr) SNV Uncertain significance 523564 rs1328584680 4:146560595-146560595 4:145639443-145639443 MCR010 Microcephaly TALDO1 NM_006755.2(TALDO1):c.328A>G (p.Arg110Gly) SNV Uncertain significance 523493 rs766745943 11:759056-759056 11:759056-759056 MCR010 Microcephaly EPM2A NM_005670.4(EPM2A):c.*1691G>A SNV Uncertain significance 523391 rs750320097 6:145946861-145946861 6:145625725-145625725 MCR010 Microcephaly CHRNB2 NM_000748.3(CHRNB2):c.329A>C (p.Lys110Thr) SNV Uncertain significance 205066 rs199885651 1:154542807-154542807 1:154570331-154570331 MCR010 Microcephaly TNNT3 NM_006757.4(TNNT3):c.667C>T (p.Arg223Cys) SNV Uncertain significance 252670 rs367658497 11:1956135-1956135 11:1934905-1934905 MCR010 Microcephaly UPF3B NM_080632.2(UPF3B):c.758T>C (p.Ile253Thr) SNV Uncertain significance 284394 rs754982440 X:118975088-118975088 X:119841125-119841125 MCR010 Microcephaly ND4 NC_012920.1:m.12013A>G SNV Uncertain significance 370056 rs1057516067 MT:12013-12013 MT:12013-12013 MCR010 Microcephaly ND4 NC_012920.1:m.12018C>G SNV Uncertain significance 370057 rs1057516068 MT:12018-12018 MT:12018-12018 MCR010 Microcephaly ND5 NC_012920.1:m.13713C>A SNV Uncertain significance 370058 rs879193643 MT:13713-13713 MT:13713-13713 MCR010 Microcephaly ENTPD1 NM_001776.6(ENTPD1):c.25G>A (p.Val9Met) SNV Uncertain significance 374088 rs150772804 10:97583002-97583002 10:95823245-95823245 MCR010 Microcephaly DYNC1H1 NM_001376.5(DYNC1H1):c.7640C>T (p.Pro2547Leu) SNV Likely benign 374086 rs1057518888 14:102483128-102483128 14:102016791-102016791 MCR010 Microcephaly CHD2 NM_001271.4(CHD2):c.949A>G (p.Ile317Val) SNV Likely benign 373964 rs750380444 15:93486195-93486195 15:92942965-92942965 MCR010 Microcephaly GLI2 NM_001374353.1(GLI2):c.254G>C (p.Gly85Ala) SNV Likely benign 373963 rs1057518803 2:121685042-121685042 2:120927466-120927466 MCR010 Microcephaly ACYP1 NM_006432.4(NPC2):c.88G>A (p.Val30Met) SNV Benign/Likely benign 183281 rs151220873 14:74953134-74953134 14:74486431-74486431 MCR010 Microcephaly NPC2 NM_006432.4(NPC2):c.88G>A (p.Val30Met) SNV Benign/Likely benign 183281 rs151220873 14:74953134-74953134 14:74486431-74486431 MCR010 Microcephaly PPOX NM_001122764.3(PPOX):c.1353T>G (p.Tyr451Ter) SNV Pathogenic 523355 rs148292941 1:161140885-161140885 1:161171095-161171095 MGR028 Migraine with or Without Aura 1 NOTCH3 NM_000435.3(NOTCH3):c.634T>C (p.Cys212Arg) SNV Pathogenic 812745 19:15302816-15302816 19:15192005-15192005 MGR028 Migraine with or Without Aura 1 CAPN3 NM_000070.3(CAPN3):c.550del (p.Thr184fs) deletion Pathogenic 17621 rs80338800 15:42680001-42680001 15:42387803-42387803 MGR028 Migraine with or Without Aura 1 BRCA2 NM_000059.3(BRCA2):c.4936_4939del (p.Glu1646fs) deletion Pathogenic 37935 rs80359473 13:32913425-32913428 13:32339288-32339291 MGR028 Migraine with or Without Aura 1 CLCN1 NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) SNV Pathogenic/Likely pathogenic 17542 rs80356702 7:143027961-143027961 7:143330868-143330868 MGR028 Migraine with or Without Aura 1 TAB2 NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter) SNV Likely pathogenic 373443 rs1057518422 6:149700090-149700090 6:149378954-149378954 MGR028 Migraine with or Without Aura 1 ESR1 ESR1, 594G-A SNV risk factor 16591 MGR028 Migraine with or Without Aura 1 NOTCH3 NM_000435.3(NOTCH3):c.1450T>G (p.Cys484Gly) SNV Likely pathogenic 523370 rs1555728965 19:15299088-15299088 19:15188277-15188277 MGR028 Migraine with or Without Aura 1 MYH6 NM_002471.4(MYH6):c.3195G>C (p.Gln1065His) SNV Conflicting interpretations of pathogenicity 14149 rs267606904 14:23862177-23862177 14:23392968-23392968 MGR028 Migraine with or Without Aura 1 DSP NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) SNV Conflicting interpretations of pathogenicity 44926 rs142885240 6:7581641-7581641 6:7581408-7581408 MGR028 Migraine with or Without Aura 1 CAPN3 NM_000070.3(CAPN3):c.1746-20C>G SNV Conflicting interpretations of pathogenicity 92408 rs201892814 15:42695919-42695919 15:42403721-42403721 MGR028 Migraine with or Without Aura 1 CACNA1A NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) SNV Conflicting interpretations of pathogenicity 195935 rs794727411 19:13372340-13372340 19:13261526-13261526 MGR028 Migraine with or Without Aura 1 MYH6 NM_002471.3(MYH6):c.4594C>T (p.Arg1532Cys) SNV Conflicting interpretations of pathogenicity 239175 rs201827489 14:23856794-23856794 14:23387585-23387585 MGR028 Migraine with or Without Aura 1 SLC2A1 NM_006516.3(SLC2A1):c.1407G>C (p.Gln469His) SNV Uncertain significance 374095 rs201748668 1:43392784-43392784 1:42927113-42927113 MGR028 Migraine with or Without Aura 1 SCN5A NM_000335.5(SCN5A):c.892G>A (p.Gly298Ser) SNV Uncertain significance 9387 rs137854608 3:38651267-38651267 3:38609776-38609776 MGR028 Migraine with or Without Aura 1 MAP2K2 NM_030662.3(MAP2K2):c.514A>G (p.Lys172Glu) SNV Uncertain significance 523536 rs1413580671 19:4102388-4102388 19:4102390-4102390 MGR028 Migraine with or Without Aura 1 STIM1 NM_001277961.1(STIM1):c.1534T>A (p.Ser512Thr) SNV Uncertain significance 523431 rs1554971682 11:4107766-4107766 11:4086536-4086536 MGR028 Migraine with or Without Aura 1 ND3 m.10191T>C SNV Pathogenic 9712 rs267606890 MT:10191-10191 MT:10191-10191 MTC149 Mitochondrial Complex I Deficiency, Mitochondrial Type 1 ND3 m.10158T>C SNV Pathogenic 9714 rs199476117 MT:10158-10158 MT:10158-10158 MTC149 Mitochondrial Complex I Deficiency, Mitochondrial Type 1 ND3 m.10197G>A SNV Pathogenic 9715 rs267606891 MT:10197-10197 MT:10197-10197 MTC149 Mitochondrial Complex I Deficiency, Mitochondrial Type 1 NDUFV1 NM_007103.4(NDUFV1):c.1118T>C (p.Phe373Ser) SNV Pathogenic 431452 rs1135402749 11:67379405-67379405 11:67611934-67611934 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS4 NM_002495.4(NDUFS4):c.99-1G>A SNV Pathogenic 496165 rs376281345 5:52899281-52899281 5:53603451-53603451 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.64C>T (p.Arg22Ter) SNV Pathogenic 626277 rs750971390 2:207017232-207017232 2:206152508-206152508 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.194T>C (p.Leu65Pro) SNV Pathogenic 790 rs63751061 6:97344666-97344666 6:96896790-96896790 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS4 NM_002495.4(NDUFS4):c.466_470dup (p.Lys158fs) duplication Pathogenic 6887 rs1445075330 5:52978987-52978988 5:53683157-53683158 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS4 NM_002495.4(NDUFS4):c.291del (p.Lys96_Trp97insTer) deletion Pathogenic 6888 rs121908985 5:52942175-52942175 5:53646345-53646345 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS4 NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter) SNV Pathogenic 6889 rs104893898 5:52942201-52942201 5:53646371-53646371 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS4 NM_002495.4(NDUFS4):c.44G>A (p.Trp15Ter) SNV Pathogenic 6890 rs104893899 5:52856536-52856536 5:53560706-53560706 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 ND4 m.11777C>A SNV Pathogenic 9711 rs28384199 MT:11777-11777 MT:11777-11777 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 ND2 m.5132_5133delAA deletion Pathogenic 9719 rs199476116 MT:5132-5133 MT:5132-5133 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 ND2 m.4810G>A SNV Pathogenic 9720 rs267606888 MT:4810-4810 MT:4810-4810 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS4 NM_002495.4(NDUFS4):c.462del (p.Lys154fs) deletion Pathogenic 40257 rs587776949 5:52978982-52978982 5:53683152-53683152 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA13 NM_015965.7(NDUFA13):c.170G>A (p.Arg57His) SNV Pathogenic 132643 rs752513525 19:19637066-19637066 19:19526257-19526257 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFB11 NM_019056.6(NDUFB11):c.262C>T (p.Arg88Ter) SNV Pathogenic 190302 rs786205225 X:47002089-47002089 X:47142690-47142690 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.311T>C (p.Leu104Pro) SNV Pathogenic/Likely pathogenic 209179 rs201430951 14:32068514-32068514 14:31599308-31599308 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFB3 NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) SNV Pathogenic/Likely pathogenic 252575 rs142609245 2:201943669-201943669 2:201078946-201078946 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) SNV Pathogenic/Likely pathogenic 14056 rs121913659 11:67379696-67379696 11:67612225-67612225 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF2 NM_174889.5(NDUFAF2):c.139C>T (p.Arg47Ter) SNV Pathogenic/Likely pathogenic 1594 rs137852863 5:60368963-60368963 5:61073136-61073136 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.1156C>T (p.Arg386Cys) SNV Pathogenic/Likely pathogenic 419230 rs150966634 11:67379443-67379443 11:67611972-67611972 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.1162+4A>C SNV Pathogenic/Likely pathogenic 372716 rs199683937 11:67379453-67379453 11:67611982-67611982 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.406C>T (p.Arg136Trp) SNV Pathogenic/Likely pathogenic 372745 rs373075574 11:126142963-126142963 11:126273068-126273068 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF5 NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val) SNV Pathogenic/Likely pathogenic 372253 rs757043077 20:13789519-13789519 20:13808873-13808873 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro) SNV Likely pathogenic 372715 rs201727685 11:67376033-67376033 11:67608562-67608562 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS3 NM_004551.3(NDUFS3):c.374G>A (p.Arg125His) SNV Likely pathogenic 418381 rs138867882 11:47602529-47602529 11:47580977-47580977 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 SLC25A10 NM_012140.5(SLC25A10):c.304A>T (p.Lys102Ter) SNV Likely pathogenic 446175 rs1555703272 17:79682598-79682598 17:81715568-81715568 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.383G>A (p.Arg128Gln) SNV Likely pathogenic 692023 11:67376979-67376979 11:67609508-67609508 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFB10 NM_004548.3(NDUFB10):c.131-442G>C SNV Likely pathogenic 873018 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.845A>G (p.Asn282Ser) SNV Likely pathogenic 626278 rs1485032272 2:207009643-207009643 2:206144919-206144919 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys) SNV Conflicting interpretations of pathogenicity 802692 11:67378531-67378531 11:67611060-67611060 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.*426T>G SNV Conflicting interpretations of pathogenicity 896190 2:206988483-206988483 2:206123759-206123759 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.*341A>G SNV Conflicting interpretations of pathogenicity 897792 2:206988568-206988568 2:206123844-206123844 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.417+10A>G SNV Conflicting interpretations of pathogenicity 703853 11:126142984-126142984 11:126273089-126273089 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.1371A>G (p.Val457=) SNV Conflicting interpretations of pathogenicity 786725 1:161183962-161183962 1:161214172-161214172 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.117A>G (p.Pro39=) SNV Conflicting interpretations of pathogenicity 734528 1:161173248-161173248 1:161203458-161203458 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS6 NM_004553.6(NDUFS6):c.31C>G (p.Leu11Val) SNV Conflicting interpretations of pathogenicity 726873 5:1801562-1801562 5:1801448-1801448 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.597C>T (p.Arg199=) SNV Conflicting interpretations of pathogenicity 724429 11:67377938-67377938 11:67610467-67610467 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199069.2(NDUFAF3):c.271-10C>G SNV Conflicting interpretations of pathogenicity 731405 3:49060125-49060125 3:49022692-49022692 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS4 NM_002495.4(NDUFS4):c.360C>G (p.Pro120=) SNV Conflicting interpretations of pathogenicity 736038 5:52954390-52954390 5:53658560-53658560 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.432G>T (p.Val144=) SNV Conflicting interpretations of pathogenicity 748271 11:67377028-67377028 11:67609557-67609557 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS8 NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr) SNV Conflicting interpretations of pathogenicity 746925 11:67799637-67799637 11:68032170-68032170 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA11 NM_175614.5(NDUFA11):c.345C>T (p.Cys115=) SNV Conflicting interpretations of pathogenicity 749277 19:5894834-5894834 19:5894823-5894823 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NC_000011.10:g.67606931T>C SNV Conflicting interpretations of pathogenicity 877316 11:67374402-67374402 11:67606931-67606931 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS7 NM_024407.5(NDUFS7):c.138G>A (p.Leu46=) SNV Conflicting interpretations of pathogenicity 389475 rs147710123 19:1388847-1388847 19:1388848-1388848 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF2 NM_174889.5(NDUFAF2):c.451G>A (p.Gly151Ser) SNV Conflicting interpretations of pathogenicity 493411 rs9885480 5:60448723-60448723 5:61152896-61152896 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199069.2(NDUFAF3):c.342C>T (p.Ile114=) SNV Conflicting interpretations of pathogenicity 516396 rs202104160 3:49060313-49060313 3:49022880-49022880 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.270G>A (p.Pro90=) SNV Conflicting interpretations of pathogenicity 516942 rs372832376 6:97339238-97339238 6:96891362-96891362 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.537-11G>A SNV Conflicting interpretations of pathogenicity 509772 rs199599636 11:126144811-126144811 11:126274916-126274916 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS3 NM_004551.3(NDUFS3):c.747G>A (p.Pro249=) SNV Conflicting interpretations of pathogenicity 514270 rs3740654 11:47605985-47605985 11:47584433-47584433 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.307-14T>C SNV Conflicting interpretations of pathogenicity 516088 rs541684918 11:126142850-126142850 11:126272955-126272955 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*428C>T SNV Conflicting interpretations of pathogenicity 898689 2:240900107-240900107 2:239960690-239960690 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.815-27T>C SNV Conflicting interpretations of pathogenicity 50317 rs118161496 14:32319298-32319298 14:31850092-31850092 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) duplication Conflicting interpretations of pathogenicity 95754 rs398124308 11:126144895-126144896 11:126275000-126275001 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.124A>C (p.Lys42Gln) SNV Conflicting interpretations of pathogenicity 129112 rs148346044 11:126141370-126141370 11:126271475-126271475 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.-76G>A SNV Conflicting interpretations of pathogenicity 898014 2:207024136-207024136 2:206159412-206159412 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.-64T>C SNV Conflicting interpretations of pathogenicity 896385 2:207024124-207024124 2:206159400-206159400 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*2133A>G SNV Conflicting interpretations of pathogenicity 896838 2:240898402-240898402 2:239958985-239958985 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1930C>G SNV Conflicting interpretations of pathogenicity 898493 2:240898605-240898605 2:239959188-239959188 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1453G>A SNV Conflicting interpretations of pathogenicity 897411 2:240899082-240899082 2:239959665-239959665 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*679A>G SNV Conflicting interpretations of pathogenicity 897056 2:240899856-240899856 2:239960439-239960439 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*183C>T SNV Conflicting interpretations of pathogenicity 895993 2:240900352-240900352 2:239960935-239960935 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.77G>T (p.Gly26Val) SNV Conflicting interpretations of pathogenicity 282798 rs77539990 14:32030722-32030722 14:31561516-31561516 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.215C>G (p.Thr72Ser) SNV Conflicting interpretations of pathogenicity 214729 rs200472799 15:41689043-41689043 15:41396845-41396845 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS7 NM_024407.5(NDUFS7):c.*16C>T SNV Conflicting interpretations of pathogenicity 214826 rs573586959 19:1395503-1395503 19:1395504-1395504 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA11 NM_175614.5(NDUFA11):c.311G>T (p.Arg104Leu) SNV Conflicting interpretations of pathogenicity 214692 rs199842745 19:5896466-5896466 19:5896455-5896455 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA11 NM_175614.5(NDUFA11):c.138G>A (p.Pro46=) SNV Conflicting interpretations of pathogenicity 214690 rs138889960 19:5896968-5896968 19:5896957-5896957 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.515-3C>A SNV Conflicting interpretations of pathogenicity 293275 rs149789018 1:161179270-161179270 1:161209480-161209480 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.-31A>G SNV Conflicting interpretations of pathogenicity 214438 rs368307265 11:126139071-126139071 11:126269176-126269176 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.10A>G (p.Arg4Gly) SNV Conflicting interpretations of pathogenicity 214439 rs149883459 11:126139111-126139111 11:126269216-126269216 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.305C>T (p.Thr102Met) SNV Conflicting interpretations of pathogenicity 214444 rs77785510 11:126141551-126141551 11:126271656-126271656 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.435C>T (p.Val145=) SNV Conflicting interpretations of pathogenicity 214437 rs147235743 11:126143248-126143248 11:126273353-126273353 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.1171T>G (p.Leu391Val) SNV Conflicting interpretations of pathogenicity 214451 rs138061928 11:126147035-126147035 11:126277140-126277140 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS3 NM_004551.3(NDUFS3):c.79C>T (p.Pro27Ser) SNV Conflicting interpretations of pathogenicity 214803 rs368907187 11:47600832-47600832 11:47579280-47579280 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS3 NM_004551.3(NDUFS3):c.123C>T (p.Ala41=) SNV Conflicting interpretations of pathogenicity 214804 rs141187412 11:47600876-47600876 11:47579324-47579324 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS3 NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu) SNV Conflicting interpretations of pathogenicity 214802 rs148331180 11:47603733-47603733 11:47582181-47582181 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.-45T>G SNV Conflicting interpretations of pathogenicity 214846 rs373940385 11:67374431-67374431 11:67606960-67606960 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.150C>T (p.Asp50=) SNV Conflicting interpretations of pathogenicity 214842 rs11540012 11:67375944-67375944 11:67608473-67608473 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.700+12C>T SNV Conflicting interpretations of pathogenicity 214843 rs200417926 11:67378053-67378053 11:67610582-67610582 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS8 NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys) SNV Conflicting interpretations of pathogenicity 214836 rs150278938 11:67799622-67799622 11:68032155-68032155 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS8 NM_002496.4(NDUFS8):c.64C>T (p.Pro22Ser) SNV Conflicting interpretations of pathogenicity 214835 rs369602258 11:67799758-67799758 11:68032291-68032291 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.162C>T (p.Ser54=) SNV Conflicting interpretations of pathogenicity 214871 rs34570972 14:32031327-32031327 14:31562121-31562121 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.256+14T>C SNV Conflicting interpretations of pathogenicity 214873 rs377077969 14:32031435-32031435 14:31562229-31562229 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.545T>C (p.Val182Ala) SNV Conflicting interpretations of pathogenicity 214874 rs61752327 14:32257017-32257017 14:31787811-31787811 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.593A>C (p.Asn198Thr) SNV Conflicting interpretations of pathogenicity 214875 rs11558436 14:32257065-32257065 14:31787859-31787859 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.685C>T (p.His229Tyr) SNV Conflicting interpretations of pathogenicity 214882 rs35867418 14:32295912-32295912 14:31826706-31826706 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.855C>T (p.Thr285=) SNV Conflicting interpretations of pathogenicity 214725 rs145122315 15:41679771-41679771 15:41387573-41387573 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.553A>G (p.Met185Val) SNV Conflicting interpretations of pathogenicity 214731 rs372385045 15:41688705-41688705 15:41396507-41396507 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.1212+7A>G SNV Conflicting interpretations of pathogenicity 293279 rs36233987 1:161183272-161183272 1:161213482-161213482 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.1354+10C>A SNV Conflicting interpretations of pathogenicity 293282 rs201275792 1:161183721-161183721 1:161213931-161213931 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.702+14_702+17dup duplication Conflicting interpretations of pathogenicity 293276 rs776704187 1:161179733-161179734 1:161209943-161209944 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 AMACR NM_014324.6(AMACR):c.844G>C (p.Glu282Gln) SNV Conflicting interpretations of pathogenicity 210135 rs181341030 5:33989503-33989503 5:33989398-33989398 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.708G>A (p.Met236Ile) SNV Conflicting interpretations of pathogenicity 211580 rs150539399 15:41687108-41687108 15:41394910-41394910 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.540G>A (p.Leu180=) SNV Conflicting interpretations of pathogenicity 214786 rs41428447 1:161179298-161179298 1:161209508-161209508 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.875T>C (p.Met292Thr) SNV Conflicting interpretations of pathogenicity 214793 rs150667550 1:161180389-161180389 1:161210599-161210599 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.959T>C (p.Val320Ala) SNV Conflicting interpretations of pathogenicity 214794 rs144937332 1:161180473-161180473 1:161210683-161210683 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.968G>A (p.Arg323Gln) SNV Conflicting interpretations of pathogenicity 214787 rs35086265 1:161180482-161180482 1:161210692-161210692 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) SNV Conflicting interpretations of pathogenicity 138479 rs78042826 2:207003310-207003310 2:206138586-206138586 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=) SNV Conflicting interpretations of pathogenicity 138480 rs2230892 2:207003230-207003230 2:206138506-206138506 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS7 NM_024407.5(NDUFS7):c.153C>T (p.Ala51=) SNV Conflicting interpretations of pathogenicity 138497 rs140236960 19:1388862-1388862 19:1388863-1388863 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.72+15G>T SNV Conflicting interpretations of pathogenicity 138504 rs187400726 11:67374562-67374562 11:67607091-67607091 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199069.2(NDUFAF3):c.180_181insT (p.Asp61Ter) insertion Conflicting interpretations of pathogenicity 208598 rs752864722 3:49059881-49059882 3:49022448-49022449 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.-1C>T SNV Conflicting interpretations of pathogenicity 138567 rs45468395 14:32030645-32030645 14:31561439-31561439 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.1000-3C>G SNV Conflicting interpretations of pathogenicity 214705 rs199648872 2:240900606-240900606 2:239961189-239961189 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.404T>C (p.Leu135Ser) SNV Conflicting interpretations of pathogenicity 214708 rs140776586 2:240960670-240960670 2:240021253-240021253 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS6 NM_004553.5(NDUFS6):c.25C>T (p.Arg9Trp) SNV Conflicting interpretations of pathogenicity 214822 rs376509886 5:1801556-1801556 5:1801442-1801442 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS4 NM_002495.4(NDUFS4):c.-6A>T SNV Conflicting interpretations of pathogenicity 214809 rs73754255 5:52856487-52856487 5:53560657-53560657 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS4 NM_002495.4(NDUFS4):c.10G>C (p.Val4Leu) SNV Conflicting interpretations of pathogenicity 214810 rs185711494 5:52856502-52856502 5:53560672-53560672 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.-38T>G SNV Conflicting interpretations of pathogenicity 214699 rs374970309 2:240964756-240964756 2:240025339-240025339 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF2 NM_174889.5(NDUFAF2):c.131A>C (p.Gln44Pro) SNV Conflicting interpretations of pathogenicity 214740 rs775605330 5:60368955-60368955 5:61073128-61073128 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199069.2(NDUFAF3):c.78-15C>G SNV Conflicting interpretations of pathogenicity 138458 rs587781096 3:49059764-49059764 3:49022331-49022331 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA11 NM_175614.5(NDUFA11):c.48C>T (p.Thr16=) SNV Conflicting interpretations of pathogenicity 138443 rs146562956 19:5903672-5903672 19:5903661-5903661 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA2 NM_002488.4(NDUFA2):c.40C>G (p.Leu14Val) SNV Conflicting interpretations of pathogenicity 138445 rs35672074 5:140027129-140027129 5:140647544-140647544 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.-6T>G SNV Conflicting interpretations of pathogenicity 138453 rs180730324 15:41689263-41689263 15:41397065-41397065 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.433G>A (p.Val145Ile) SNV Conflicting interpretations of pathogenicity 137399 rs34542988 11:126143246-126143246 11:126273351-126273351 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.9G>A (p.Arg3=) SNV Conflicting interpretations of pathogenicity 137400 rs28372779 11:126139110-126139110 11:126269215-126269215 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.1020G>C (p.Pro340=) SNV Conflicting interpretations of pathogenicity 137401 rs143739550 11:126146337-126146337 11:126276442-126276442 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.1139A>G (p.His380Arg) SNV Conflicting interpretations of pathogenicity 137402 rs7116126 11:126147003-126147003 11:126277108-126277108 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.548-9A>G SNV Conflicting interpretations of pathogenicity 138436 rs147876332 2:240954286-240954286 2:240014869-240014869 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.120G>A (p.Leu40=) SNV Conflicting interpretations of pathogenicity 138461 rs117908219 6:97345558-97345558 6:96897682-96897682 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.421-7A>G SNV Conflicting interpretations of pathogenicity 138474 rs192949406 2:207012392-207012392 2:206147668-206147668 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.514+11C>T SNV Conflicting interpretations of pathogenicity 138483 rs76309459 1:161179114-161179114 1:161209324-161209324 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.628-12C>T SNV Conflicting interpretations of pathogenicity 138484 rs202121443 1:161179635-161179635 1:161209845-161209845 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.866+8G>A SNV Conflicting interpretations of pathogenicity 138485 rs142594036 1:161180187-161180187 1:161210397-161210397 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.1354+5G>A SNV Conflicting interpretations of pathogenicity 138487 rs190184430 1:161183716-161183716 1:161213926-161213926 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.-223C>G SNV Conflicting interpretations of pathogenicity 138488 rs74124661 1:161171953-161171953 1:161202163-161202163 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.-20C>T SNV Conflicting interpretations of pathogenicity 138489 rs201554004 1:161172156-161172156 1:161202366-161202366 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS3 NM_004551.3(NDUFS3):c.591T>C (p.Pro197=) SNV Conflicting interpretations of pathogenicity 138490 rs77113494 11:47603984-47603984 11:47582432-47582432 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS3 NM_004551.3(NDUFS3):c.628-7C>T SNV Conflicting interpretations of pathogenicity 138491 rs11039306 11:47605859-47605859 11:47584307-47584307 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS4 NM_002495.4(NDUFS4):c.102G>A (p.Ser34=) SNV Conflicting interpretations of pathogenicity 138492 rs138941073 5:52899285-52899285 5:53603455-53603455 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS6 NM_004553.4(NDUFS6):c.-12C>T SNV Conflicting interpretations of pathogenicity 138493 rs145747389 5:1801520-1801520 5:1801406-1801406 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.549T>C (p.Cys183=) SNV Conflicting interpretations of pathogenicity 335202 rs149783296 2:240954276-240954276 2:240014859-240014859 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF5 NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg) SNV Conflicting interpretations of pathogenicity 225036 rs761389904 20:13797166-13797166 20:13816520-13816520 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*647C>T SNV Conflicting interpretations of pathogenicity 335188 rs116254382 2:240899888-240899888 2:239960471-239960471 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS6 NM_004553.5(NDUFS6):c.24C>T (p.Cys8=) SNV Conflicting interpretations of pathogenicity 353189 rs886060511 5:1801555-1801555 5:1801441-1801441 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS4 NM_002495.4(NDUFS4):c.351-11_351-8del deletion Conflicting interpretations of pathogenicity 353890 rs375549253 5:52954367-52954370 5:53658537-53658540 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA2 NM_002488.4(NDUFA2):c.-50G>A SNV Conflicting interpretations of pathogenicity 351227 rs143857164 5:140027218-140027218 5:140647633-140647633 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS6 NM_004553.5(NDUFS6):c.198C>T (p.Asn66=) SNV Conflicting interpretations of pathogenicity 353192 rs140887831 5:1814464-1814464 5:1814350-1814350 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS6 NM_004553.5(NDUFS6):c.*15C>T SNV Conflicting interpretations of pathogenicity 353195 rs200445799 5:1816045-1816045 5:1815931-1815931 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.184C>T (p.Leu62=) SNV Conflicting interpretations of pathogenicity 358274 rs78567928 6:97344676-97344676 6:96896800-96896800 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.491T>A (p.Phe164Tyr) SNV Conflicting interpretations of pathogenicity 358271 rs201754378 6:97339017-97339017 6:96891141-96891141 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.1355-4C>G SNV Conflicting interpretations of pathogenicity 378254 rs147235167 1:161183942-161183942 1:161214152-161214152 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.611T>C (p.Met204Thr) SNV Conflicting interpretations of pathogenicity 378251 rs148544177 2:207011753-207011753 2:206147029-206147029 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.1062C>T (p.Leu354=) SNV Conflicting interpretations of pathogenicity 378252 rs112026097 2:207007481-207007481 2:206142757-206142757 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS4 NM_002495.4(NDUFS4):c.150A>G (p.Thr50=) SNV Conflicting interpretations of pathogenicity 385428 rs142368721 5:52899333-52899333 5:53603503-53603503 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.155+12C>T SNV Conflicting interpretations of pathogenicity 380989 rs199963966 11:67375961-67375961 11:67608490-67608490 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.831C>T (p.Asn277=) SNV Conflicting interpretations of pathogenicity 380653 rs139299777 11:67378596-67378596 11:67611125-67611125 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.1269G>A (p.Thr423=) SNV Conflicting interpretations of pathogenicity 388880 rs147719815 11:67379697-67379697 11:67612226-67612226 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.422+8T>C SNV Conflicting interpretations of pathogenicity 387762 rs868061310 14:32142608-32142608 14:31673402-31673402 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS8 NM_002496.4(NDUFS8):c.255G>A (p.Pro85=) SNV Conflicting interpretations of pathogenicity 378258 rs144125742 11:67800633-67800633 11:68033166-68033166 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV2 NM_021074.5(NDUFV2):c.-13A>G SNV Conflicting interpretations of pathogenicity 380625 rs369562850 18:9102729-9102729 18:9102731-9102731 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV2 NM_021074.5(NDUFV2):c.510T>C (p.Thr170=) SNV Conflicting interpretations of pathogenicity 327879 rs201074358 18:9124912-9124912 18:9124914-9124914 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV2 NM_021074.5(NDUFV2):c.546C>T (p.Asn182=) SNV Conflicting interpretations of pathogenicity 327880 rs143576401 18:9124948-9124948 18:9124950-9124950 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS8 NM_002496.4(NDUFS8):c.299C>T (p.Ala100Val) SNV Conflicting interpretations of pathogenicity 305767 rs748754134 11:67800677-67800677 11:68033210-68033210 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.639C>T (p.Ile213=) SNV Conflicting interpretations of pathogenicity 313029 rs35330765 14:32295866-32295866 14:31826660-31826660 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS3 NM_004551.3(NDUFS3):c.783T>C (p.Pro261=) SNV Conflicting interpretations of pathogenicity 304999 rs117981655 11:47606021-47606021 11:47584469-47584469 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.819C>T (p.Thr273=) SNV Conflicting interpretations of pathogenicity 305749 rs150859374 11:67378584-67378584 11:67611113-67611113 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.843T>C (p.His281=) SNV Conflicting interpretations of pathogenicity 305750 rs766555879 11:67378608-67378608 11:67611137-67611137 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.1075C>T (p.Arg359Cys) SNV Conflicting interpretations of pathogenicity 305753 rs142499054 11:67379035-67379035 11:67611564-67611564 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS8 NM_002496.4(NDUFS8):c.459C>T (p.Cys153=) SNV Conflicting interpretations of pathogenicity 305768 rs149201273 11:67803806-67803806 11:68036339-68036339 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS8 NM_002496.4(NDUFS8):c.502-10C>T SNV Conflicting interpretations of pathogenicity 305771 rs369961682 11:67803919-67803919 11:68036452-68036452 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS8 NM_002496.4(NDUFS8):c.597C>T (p.Ile199=) SNV Conflicting interpretations of pathogenicity 305772 rs1804688 11:67804024-67804024 11:68036557-68036557 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS8 NM_002496.4(NDUFS8):c.*40A>G SNV Conflicting interpretations of pathogenicity 305776 rs61329983 11:67804100-67804100 11:68036633-68036633 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 TCIRG1 NM_002496.4(NDUFS8):c.*40A>G SNV Conflicting interpretations of pathogenicity 305776 rs61329983 11:67804100-67804100 11:68036633-68036633 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.366G>A (p.Pro122=) SNV Conflicting interpretations of pathogenicity 305744 rs140445386 11:67376962-67376962 11:67609491-67609491 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.1309-9C>T SNV Conflicting interpretations of pathogenicity 305756 rs374581520 11:67379834-67379834 11:67612363-67612363 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS8 NM_002496.4(NDUFS8):c.502-13C>T SNV Conflicting interpretations of pathogenicity 305770 rs199793417 11:67803916-67803916 11:68036449-68036449 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS3 NM_004551.3(NDUFS3):c.91T>C (p.Leu31=) SNV Conflicting interpretations of pathogenicity 304993 rs770306617 11:47600844-47600844 11:47579292-47579292 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.205C>T (p.Leu69=) SNV Conflicting interpretations of pathogenicity 305740 rs199543483 11:67376072-67376072 11:67608601-67608601 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.-7C>T SNV Conflicting interpretations of pathogenicity 313018 rs201073307 14:32030639-32030639 14:31561433-31561433 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS7 NM_024407.5(NDUFS7):c.270C>T (p.Ala90=) SNV Conflicting interpretations of pathogenicity 328337 rs375120743 19:1390911-1390911 19:1390912-1390912 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.-13A>G SNV Conflicting interpretations of pathogenicity 313017 rs754769393 14:32030633-32030633 14:31561427-31561427 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.285C>T (p.Asn95=) SNV Conflicting interpretations of pathogenicity 313022 rs373232503 14:32034248-32034248 14:31565042-31565042 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*188T>C SNV Uncertain significance 313034 rs569141248 14:32328574-32328574 14:31859368-31859368 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.369G>A (p.Pro123=) SNV Uncertain significance 313024 rs755482148 14:32068572-32068572 14:31599366-31599366 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.677G>A (p.Arg226His) SNV Uncertain significance 313030 rs79498789 14:32295904-32295904 14:31826698-31826698 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.894T>A (p.Asp298Glu) SNV Uncertain significance 313031 rs770850110 14:32319404-32319404 14:31850198-31850198 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.199A>G (p.Lys67Glu) SNV Uncertain significance 313021 rs771326763 14:32031364-32031364 14:31562158-31562158 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1146_*1148del deletion Uncertain significance 313058 rs886050464 14:32329532-32329534 14:31860326-31860328 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1147dup duplication Uncertain significance 313055 rs34847511 14:32329508-32329509 14:31860302-31860303 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1148del deletion Uncertain significance 313059 rs886050465 14:32329534-32329534 14:31860328-31860328 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS7 NM_024407.5(NDUFS7):c.561C>A (p.Ala187=) SNV Uncertain significance 328339 rs144570086 19:1395406-1395406 19:1395407-1395407 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS8 NM_002496.4(NDUFS8):c.200-14C>T SNV Uncertain significance 305766 rs373128833 11:67800564-67800564 11:68033097-68033097 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA11 NM_175614.4(NDUFA11):c.-300G>A SNV Uncertain significance 330246 rs563822139 19:5904019-5904019 19:5904008-5904008 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1015C>A SNV Uncertain significance 313047 rs551958784 14:32329401-32329401 14:31860195-31860195 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1048G>A SNV Uncertain significance 313048 rs886050455 14:32329434-32329434 14:31860228-31860228 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1119_*1120insA insertion Uncertain significance 313050 rs886050456 14:32329505-32329506 14:31860299-31860300 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1121_*1123del deletion Uncertain significance 313052 rs886050458 14:32329507-32329509 14:31860301-31860303 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1122dup duplication Uncertain significance 313053 rs886050459 14:32329507-32329508 14:31860301-31860302 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1609G>A SNV Uncertain significance 313065 rs142179743 14:32329995-32329995 14:31860789-31860789 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1773A>G SNV Uncertain significance 313069 rs886050469 14:32330159-32330159 14:31860953-31860953 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.538A>G (p.Ser180Gly) SNV Uncertain significance 315877 rs886051143 15:41688720-41688720 15:41396522-41396522 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.-137C>T SNV Uncertain significance 315879 rs369431865 15:41694397-41694397 15:41402199-41402199 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.-140C>T SNV Uncertain significance 315880 rs886051144 15:41694400-41694400 15:41402202-41402202 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.-352C>T SNV Uncertain significance 315885 rs532681188 15:41694612-41694612 15:41402414-41402414 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV2 NM_021074.4(NDUFV2):c.-98G>T SNV Uncertain significance 327871 rs886054123 18:9102644-9102644 18:9102646-9102646 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV2 NM_021074.5(NDUFV2):c.415C>A (p.Pro139Thr) SNV Uncertain significance 327878 rs886054124 18:9122625-9122625 18:9122627-9122627 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS7 NM_024407.5(NDUFS7):c.*8G>A SNV Uncertain significance 328342 rs756081375 19:1395495-1395495 19:1395496-1395496 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.46C>T (p.Arg16Trp) SNV Uncertain significance 313019 rs886050447 14:32030691-32030691 14:31561485-31561485 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.383G>A (p.Ser128Asn) SNV Uncertain significance 313025 rs143612760 14:32142561-32142561 14:31673355-31673355 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.384C>T (p.Ser128=) SNV Uncertain significance 313026 rs886050450 14:32142562-32142562 14:31673356-31673356 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.573G>A (p.Val191=) SNV Uncertain significance 313027 rs886050451 14:32257045-32257045 14:31787839-31787839 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*355T>C SNV Uncertain significance 313037 rs886050452 14:32328741-32328741 14:31859535-31859535 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*357C>G SNV Uncertain significance 313038 rs576520205 14:32328743-32328743 14:31859537-31859537 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*527G>A SNV Uncertain significance 313040 rs560274677 14:32328913-32328913 14:31859707-31859707 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*561G>A SNV Uncertain significance 313042 rs189555353 14:32328947-32328947 14:31859741-31859741 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*905A>C SNV Uncertain significance 313045 rs750277296 14:32329291-32329291 14:31860085-31860085 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*2036A>C SNV Uncertain significance 313074 rs886050472 14:32330422-32330422 14:31861216-31861216 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.61A>T (p.Thr21Ser) SNV Uncertain significance 315878 rs148982578 15:41689197-41689197 15:41396999-41396999 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.-180C>T SNV Uncertain significance 315881 rs886051145 15:41694440-41694440 15:41402242-41402242 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.-293C>T SNV Uncertain significance 315883 rs760649120 15:41694553-41694553 15:41402355-41402355 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.-312T>G SNV Uncertain significance 315884 rs886051146 15:41694572-41694572 15:41402374-41402374 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV2 NM_021074.5(NDUFV2):c.-30G>T SNV Uncertain significance 327875 rs139650842 18:9102712-9102712 18:9102714-9102714 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.333G>T (p.Lys111Asn) SNV Uncertain significance 305743 rs886048588 11:67376929-67376929 11:67609458-67609458 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.530A>G (p.Tyr177Cys) SNV Uncertain significance 305746 rs551603121 11:67377871-67377871 11:67610400-67610400 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.1188G>A (p.Met396Ile) SNV Uncertain significance 305755 rs142050639 11:67379616-67379616 11:67612145-67612145 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.1353G>T (p.Gln451His) SNV Uncertain significance 305757 rs768582587 11:67379887-67379887 11:67612416-67612416 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS8 NM_002496.4(NDUFS8):c.133G>A (p.Glu45Lys) SNV Uncertain significance 305763 rs764943259 11:67800413-67800413 11:68032946-68032946 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS8 NM_002496.4(NDUFS8):c.598G>A (p.Ala200Thr) SNV Uncertain significance 305773 rs578145610 11:67804025-67804025 11:68036558-68036558 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.109-11A>T SNV Uncertain significance 313020 rs886050448 14:32031263-32031263 14:31562057-31562057 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.286G>A (p.Asp96Asn) SNV Uncertain significance 313023 rs886050449 14:32034249-32034249 14:31565043-31565043 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1053G>A SNV Uncertain significance 313049 rs546991443 14:32329439-32329439 14:31860233-31860233 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1122_*1124del deletion Uncertain significance 313054 rs886050460 14:32329508-32329510 14:31860302-31860304 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1144_*1147del deletion Uncertain significance 313056 rs34847511 14:32329509-32329512 14:31860303-31860306 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1145_*1148del deletion Uncertain significance 313057 rs886050463 14:32329531-32329534 14:31860325-31860328 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1260T>C SNV Uncertain significance 313063 rs551289319 14:32329646-32329646 14:31860440-31860440 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1619C>T SNV Uncertain significance 313066 rs886050468 14:32330005-32330005 14:31860799-31860799 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1840A>G SNV Uncertain significance 313071 rs886050471 14:32330226-32330226 14:31861020-31861020 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS3 NM_004551.3(NDUFS3):c.753T>G (p.Ser251Arg) SNV Uncertain significance 304998 rs752314902 11:47605991-47605991 11:47584439-47584439 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS8 NM_002496.4(NDUFS8):c.199+5G>A SNV Uncertain significance 305764 rs373522607 11:67800484-67800484 11:68033017-68033017 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.414G>T (p.Leu138=) SNV Uncertain significance 305745 rs148461900 11:67377010-67377010 11:67609539-67609539 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.904A>G (p.Lys302Glu) SNV Uncertain significance 305751 rs573896386 11:67378669-67378669 11:67611198-67611198 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.1017C>T (p.Phe339=) SNV Uncertain significance 305752 rs371426372 11:67378977-67378977 11:67611506-67611506 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.1079C>T (p.Ser360Leu) SNV Uncertain significance 305754 rs372208500 11:67379039-67379039 11:67611568-67611568 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.563G>A (p.Gly188Asp) SNV Uncertain significance 305747 rs142982022 11:67377904-67377904 11:67610433-67610433 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS3 NM_004551.3(NDUFS3):c.657G>A (p.Val219=) SNV Uncertain significance 304997 rs377323760 11:47605895-47605895 11:47584343-47584343 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.3(FOXRED1):c.-163G>C SNV Uncertain significance 303531 rs552937899 11:126138939-126138939 11:126269044-126269044 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.35G>C (p.Arg12Pro) SNV Uncertain significance 303533 rs375454069 11:126139136-126139136 11:126269241-126269241 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.833A>G (p.Glu278Gly) SNV Uncertain significance 303539 rs886047981 11:126145976-126145976 11:126276081-126276081 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.921G>A (p.Gly307=) SNV Uncertain significance 303542 rs777315728 11:126146064-126146064 11:126276169-126276169 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.643G>A (p.Asp215Asn) SNV Uncertain significance 315876 rs866015009 15:41687173-41687173 15:41394975-41394975 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.-205G>C SNV Uncertain significance 315882 rs190265352 15:41694465-41694465 15:41402267-41402267 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.192G>A (p.Ser64=) SNV Uncertain significance 303534 rs749675822 11:126141438-126141438 11:126271543-126271543 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.580C>T (p.Arg194Trp) SNV Uncertain significance 303536 rs191604046 11:126144865-126144865 11:126274970-126274970 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.1138C>G (p.His380Asp) SNV Uncertain significance 303544 rs751634994 11:126147002-126147002 11:126277107-126277107 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.1183G>T (p.Val395Phe) SNV Uncertain significance 303545 rs767749700 11:126147047-126147047 11:126277152-126277152 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.*14C>T SNV Uncertain significance 305759 rs886048590 11:67379943-67379943 11:67612472-67612472 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.-34T>A SNV Uncertain significance 305739 rs886048586 11:67374442-67374442 11:67606971-67606971 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1776G>A SNV Uncertain significance 313070 rs886050470 14:32330162-32330162 14:31860956-31860956 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS3 NM_004551.3(NDUFS3):c.381+5G>T SNV Uncertain significance 304995 rs886048392 11:47602541-47602541 11:47580989-47580989 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS3 NM_004551.3(NDUFS3):c.381+6T>C SNV Uncertain significance 304996 rs377579231 11:47602542-47602542 11:47580990-47580990 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.296G>A (p.Arg99Gln) SNV Uncertain significance 303535 rs768102112 11:126141542-126141542 11:126271647-126271647 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.857T>C (p.Ile286Thr) SNV Uncertain significance 303540 rs148955548 11:126146000-126146000 11:126276105-126276105 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.887C>T (p.Ala296Val) SNV Uncertain significance 303541 rs886047982 11:126146030-126146030 11:126276135-126276135 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.*85T>C SNV Uncertain significance 303546 rs372575072 11:126147669-126147669 11:126277774-126277774 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*135T>G SNV Uncertain significance 313033 rs377738028 14:32328521-32328521 14:31859315-31859315 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*638C>G SNV Uncertain significance 313043 rs886050454 14:32329024-32329024 14:31859818-31859818 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1121dup duplication Uncertain significance 313051 rs886050457 14:32329506-32329507 14:31860300-31860301 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1149_*1150insA insertion Uncertain significance 313060 rs886050466 14:32329535-32329536 14:31860329-31860330 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1151G>A SNV Uncertain significance 313062 rs550119169 14:32329537-32329537 14:31860331-31860331 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1155dup duplication Uncertain significance 313061 rs886050467 14:32329536-32329537 14:31860330-31860331 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS8 NM_002496.4(NDUFS8):c.501+12C>G SNV Uncertain significance 305769 rs372004236 11:67803860-67803860 11:68036393-68036393 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS8 NM_002496.4(NDUFS8):c.*26T>G SNV Uncertain significance 305775 rs886048592 11:67804086-67804086 11:68036619-68036619 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS8 NM_002496.4(NDUFS8):c.*44C>T SNV Uncertain significance 305777 rs201815115 11:67804104-67804104 11:68036637-68036637 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.658C>T (p.Pro220Ser) SNV Uncertain significance 303537 rs753106152 11:126145248-126145248 11:126275353-126275353 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.662G>T (p.Trp221Leu) SNV Uncertain significance 303538 rs755831680 11:126145252-126145252 11:126275357-126275357 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.952C>T (p.Pro318Ser) SNV Uncertain significance 303543 rs748195712 11:126146095-126146095 11:126276200-126276200 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.*392G>A SNV Uncertain significance 303551 rs886047983 11:126147976-126147976 11:126278081-126278081 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.2(NUBPL):c.-39G>A SNV Uncertain significance 313015 rs886050446 14:32030607-32030607 14:31561401-31561401 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.-25A>G SNV Uncertain significance 313016 rs749942385 14:32030621-32030621 14:31561415-31561415 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.603A>C (p.Ile201=) SNV Uncertain significance 313028 rs543089711 14:32257075-32257075 14:31787869-31787869 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.*159C>T SNV Uncertain significance 303549 rs570233921 11:126147743-126147743 11:126277848-126277848 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.*432T>G SNV Uncertain significance 303552 rs185024577 11:126148016-126148016 11:126278121-126278121 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS3 NM_004551.2(NDUFS3):c.-41T>C SNV Uncertain significance 304991 rs750965789 11:47600603-47600603 11:47579051-47579051 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS3 NM_004551.2(NDUFS3):c.-30C>T SNV Uncertain significance 304992 rs375483884 11:47600614-47600614 11:47579062-47579062 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS3 NM_004551.3(NDUFS3):c.190T>C (p.Tyr64His) SNV Uncertain significance 304994 rs886048391 11:47602133-47602133 11:47580581-47580581 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.3(NDUFV1):c.-111T>C SNV Uncertain significance 305737 rs563140258 11:67374365-67374365 11:67606894-67606894 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.218C>T (p.Pro73Leu) SNV Uncertain significance 305741 rs886048587 11:67376085-67376085 11:67608614-67608614 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.326+12G>A SNV Uncertain significance 305742 rs184136353 11:67376205-67376205 11:67608734-67608734 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.606G>A (p.Gly202=) SNV Uncertain significance 305748 rs886048589 11:67377947-67377947 11:67610476-67610476 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.1378C>T (p.Arg460Trp) SNV Uncertain significance 305758 rs372047256 11:67379912-67379912 11:67612441-67612441 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS8 NM_002496.3(NDUFS8):c.-98G>A SNV Uncertain significance 305761 rs886048591 11:67798103-67798103 11:68030636-68030636 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS8 NM_002496.3(NDUFS8):c.-76C>T SNV Uncertain significance 305762 rs544094420 11:67798125-67798125 11:68030658-68030658 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS7 NM_024407.5(NDUFS7):c.322G>A (p.Val108Met) SNV Uncertain significance 328338 rs368174338 19:1390963-1390963 19:1390964-1390964 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV2 NM_021074.4(NDUFV2):c.-94A>T SNV Uncertain significance 327872 rs552940397 18:9102648-9102648 18:9102650-9102650 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV2 NM_021074.4(NDUFV2):c.-83C>T SNV Uncertain significance 327873 rs540830035 18:9102659-9102659 18:9102661-9102661 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV2 NM_021074.5(NDUFV2):c.-39G>T SNV Uncertain significance 327874 rs748188888 18:9102703-9102703 18:9102705-9102705 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA11 NM_175614.5(NDUFA11):c.233C>T (p.Ala78Val) SNV Uncertain significance 330236 rs886054647 19:5896544-5896544 19:5896533-5896533 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA11 NM_175614.5(NDUFA11):c.*59C>G SNV Uncertain significance 330234 rs191571307 19:5894694-5894694 19:5894683-5894683 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA11 NM_175614.5(NDUFA11):c.-31G>A SNV Uncertain significance 330237 rs886054648 19:5903750-5903750 19:5903739-5903739 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA11 NM_175614.5(NDUFA11):c.-51T>G SNV Uncertain significance 330238 rs886054649 19:5903770-5903770 19:5903759-5903759 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA11 NM_175614.4(NDUFA11):c.-210T>C SNV Uncertain significance 330243 rs886054650 19:5903929-5903929 19:5903918-5903918 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV2 NM_021074.5(NDUFV2):c.17C>G (p.Ala6Gly) SNV Uncertain significance 327876 rs559485096 18:9102758-9102758 18:9102760-9102760 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV2 NM_021074.5(NDUFV2):c.301-10A>G SNV Uncertain significance 327877 rs756241126 18:9122501-9122501 18:9122503-9122503 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA11 NM_175614.4(NDUFA11):c.-143C>G SNV Uncertain significance 330241 rs550697802 19:5903862-5903862 19:5903851-5903851 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS7 NM_024407.5(NDUFS7):c.21T>C (p.Pro7=) SNV Uncertain significance 328336 rs201222388 19:1387814-1387814 19:1387815-1387815 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA11 NM_175614.4(NDUFA11):c.-201_-200delCT short repeat Uncertain significance 330242 rs759857076 19:5903919-5903920 19:5903908-5903909 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS7 NM_024407.5(NDUFS7):c.*3_*5CCG[4] short repeat Uncertain significance 328341 rs3065757 19:1395488-1395493 19:1395489-1395494 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS7 NM_024407.5(NDUFS7):c.*3_*5CCG[5] short repeat Uncertain significance 328340 rs3065757 19:1395488-1395490 19:1395489-1395491 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA11 NM_001193375.2(NDUFA11):c.314-1384dup duplication Uncertain significance 330233 rs755637853 19:5894684-5894685 19:5894673-5894674 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA11 NM_175614.5(NDUFA11):c.*55G>C SNV Uncertain significance 330235 rs771648754 19:5894698-5894698 19:5894687-5894687 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA11 NM_175614.4(NDUFA11):c.-83G>C SNV Uncertain significance 330239 rs562075121 19:5903802-5903802 19:5903791-5903791 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.223C>G (p.Pro75Ala) SNV Uncertain significance 358273 rs886061829 6:97344637-97344637 6:96896761-96896761 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.-24C>G SNV Uncertain significance 358275 rs886061830 6:97345701-97345701 6:96897825-96897825 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS6 NM_004553.5(NDUFS6):c.369C>T (p.His123=) SNV Uncertain significance 353194 rs745565855 5:1816024-1816024 5:1815910-1815910 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS6 NM_004553.5(NDUFS6):c.*27A>G SNV Uncertain significance 353196 rs370587409 5:1816057-1816057 5:1815943-1815943 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS6 NM_004553.5(NDUFS6):c.27G>C (p.Arg9=) SNV Uncertain significance 353190 rs886060512 5:1801558-1801558 5:1801444-1801444 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*294T>G SNV Uncertain significance 358269 rs555318888 6:97338686-97338686 6:96890810-96890810 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.-32del deletion Uncertain significance 358276 rs886061831 6:97345709-97345709 6:96897833-96897833 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.-33G>T SNV Uncertain significance 358277 rs886061832 6:97345710-97345710 6:96897834-96897834 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.-40C>T SNV Uncertain significance 358278 rs749427985 6:97345717-97345717 6:96897841-96897841 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS4 NM_002495.4(NDUFS4):c.-22C>A SNV Uncertain significance 353888 rs144843461 5:52856471-52856471 5:53560641-53560641 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.-49C>T SNV Uncertain significance 358279 rs372635399 6:97345726-97345726 6:96897850-96897850 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*1362C>T SNV Uncertain significance 358252 rs545168471 6:97337618-97337618 6:96889742-96889742 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*1121A>G SNV Uncertain significance 358255 rs886061826 6:97337859-97337859 6:96889983-96889983 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*986A>C SNV Uncertain significance 358259 rs192839240 6:97337994-97337994 6:96890118-96890118 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*459A>G SNV Uncertain significance 358262 rs560563894 6:97338521-97338521 6:96890645-96890645 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF2 NM_174889.4(NDUFAF2):c.-63G>T SNV Uncertain significance 354030 rs886060724 5:60241020-60241020 5:60945193-60945193 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 ERCC8 NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu) SNV Uncertain significance 354032 rs886060726 5:60241100-60241100 5:60945273-60945273 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF2 NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu) SNV Uncertain significance 354032 rs886060726 5:60241100-60241100 5:60945273-60945273 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF2 NM_174889.5(NDUFAF2):c.128-14C>G SNV Uncertain significance 354034 rs537327206 5:60368938-60368938 5:61073111-61073111 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*1748T>C SNV Uncertain significance 358242 rs886061823 6:97337232-97337232 6:96889356-96889356 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*1363G>A SNV Uncertain significance 358251 rs184678986 6:97337617-97337617 6:96889741-96889741 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*1203A>G SNV Uncertain significance 358253 rs190331411 6:97337777-97337777 6:96889901-96889901 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*1053A>G SNV Uncertain significance 358257 rs74905648 6:97337927-97337927 6:96890051-96890051 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*690G>A SNV Uncertain significance 358260 rs181915821 6:97338290-97338290 6:96890414-96890414 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS4 NM_002495.4(NDUFS4):c.*79A>G SNV Uncertain significance 353893 rs886060699 5:52979130-52979130 5:53683300-53683300 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF2 NM_174889.5(NDUFAF2):c.196G>C (p.Asp66His) SNV Uncertain significance 354035 rs769579395 5:60369020-60369020 5:61073193-61073193 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*1671T>C SNV Uncertain significance 358244 rs182040819 6:97337309-97337309 6:96889433-96889433 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*1642T>G SNV Uncertain significance 358245 rs150444958 6:97337338-97337338 6:96889462-96889462 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*1487A>G SNV Uncertain significance 358246 rs748437516 6:97337493-97337493 6:96889617-96889617 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*1375G>T SNV Uncertain significance 358250 rs138003168 6:97337605-97337605 6:96889729-96889729 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*612A>G SNV Uncertain significance 358261 rs886061828 6:97338368-97338368 6:96890492-96890492 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*289C>G SNV Uncertain significance 358270 rs143895125 6:97338691-97338691 6:96890815-96890815 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS4 NM_002495.4(NDUFS4):c.178-4G>C SNV Uncertain significance 353889 rs200384843 5:52942059-52942059 5:53646229-53646229 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF2 NM_174889.4(NDUFAF2):c.-110A>C SNV Uncertain significance 354026 rs886060723 5:60240973-60240973 5:60945146-60945146 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA2 NM_002488.4(NDUFA2):c.-145T>A SNV Uncertain significance 351232 rs886060017 5:140027313-140027313 5:140647728-140647728 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS6 NM_004553.5(NDUFS6):c.155G>C (p.Arg52Thr) SNV Uncertain significance 353191 rs768060274 5:1802457-1802457 5:1802343-1802343 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA2 NM_002488.4(NDUFA2):c.-53A>G SNV Uncertain significance 351229 rs747127939 5:140027221-140027221 5:140647636-140647636 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA2 NM_002488.4(NDUFA2):c.191A>G (p.Lys64Arg) SNV Uncertain significance 351223 rs79526416 5:140026858-140026858 5:140647273-140647273 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*1154A>G SNV Uncertain significance 358254 rs886061825 6:97337826-97337826 6:96889950-96889950 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*1008T>C SNV Uncertain significance 358258 rs886061827 6:97337972-97337972 6:96890096-96890096 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA2 NM_002488.4(NDUFA2):c.177C>T (p.Ser59=) SNV Uncertain significance 351224 rs200255683 5:140026872-140026872 5:140647287-140647287 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA2 NM_002488.4(NDUFA2):c.-51C>A SNV Uncertain significance 351228 rs886060016 5:140027219-140027219 5:140647634-140647634 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA2 NM_002488.4(NDUFA2):c.-63G>A SNV Uncertain significance 351230 rs748460855 5:140027231-140027231 5:140647646-140647646 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1884G>C SNV Uncertain significance 335178 rs886055820 2:240898651-240898651 2:239959234-239959234 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF2 NM_174889.4(NDUFAF2):c.-66G>C SNV Uncertain significance 354029 rs376045901 5:60241017-60241017 5:60945190-60945190 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF2 NM_174889.5(NDUFAF2):c.-23_-22GC[3] short repeat Uncertain significance 354031 rs886060725 5:60241059-60241060 5:60945232-60945233 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF2 NM_174889.5(NDUFAF2):c.98A>G (p.Tyr33Cys) SNV Uncertain significance 354033 rs779872068 5:60241180-60241180 5:60945353-60945353 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF2 NM_174889.5(NDUFAF2):c.414T>A (p.Phe138Leu) SNV Uncertain significance 354036 rs770172045 5:60448686-60448686 5:61152859-61152859 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF2 NM_174889.5(NDUFAF2):c.422A>T (p.Glu141Val) SNV Uncertain significance 354037 rs749677218 5:60448694-60448694 5:61152867-61152867 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*1727T>C SNV Uncertain significance 358243 rs886061824 6:97337253-97337253 6:96889377-96889377 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*1481T>C SNV Uncertain significance 358247 rs772264922 6:97337499-97337499 6:96889623-96889623 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*1447T>C SNV Uncertain significance 358248 rs116939090 6:97337533-97337533 6:96889657-96889657 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*105G>A SNV Uncertain significance 335199 rs886055825 2:240900430-240900430 2:239961013-239961013 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.865C>T (p.Arg289Cys) SNV Uncertain significance 335200 rs762669820 2:240944652-240944652 2:240005235-240005235 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.749+11C>T SNV Uncertain significance 335201 rs200760509 2:240951023-240951023 2:240011606-240011606 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_001322019.1(NDUFA10):c.-92C>T SNV Uncertain significance 335206 rs559797625 2:240964810-240964810 2:240025393-240025393 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.*866A>C SNV Uncertain significance 333763 rs749790811 2:206988043-206988043 2:206123319-206123319 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.*756A>T SNV Uncertain significance 333766 rs755460274 2:206988153-206988153 2:206123429-206123429 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.*504G>A SNV Uncertain significance 333770 rs548641207 2:206988405-206988405 2:206123681-206123681 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.*27C>T SNV Uncertain significance 333779 rs369746514 2:206988882-206988882 2:206124158-206124158 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.2006A>G (p.Asn669Ser) SNV Uncertain significance 333780 rs142716964 2:206991447-206991447 2:206126723-206126723 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile) SNV Uncertain significance 333781 rs137889316 2:206997706-206997706 2:206132982-206132982 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.1393-7del deletion Uncertain significance 333782 rs760292289 2:206997836-206997836 2:206133112-206133112 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.1363A>G (p.Ile455Val) SNV Uncertain significance 333783 rs758095913 2:207003238-207003238 2:206138514-206138514 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.396C>A (p.Asp132Glu) SNV Uncertain significance 333785 rs757139275 2:207012501-207012501 2:206147777-206147777 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.364G>A (p.Ala122Thr) SNV Uncertain significance 333786 rs886055502 2:207012533-207012533 2:206147809-206147809 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.262-15del deletion Uncertain significance 333788 rs34184317 2:207013835-207013835 2:206149111-206149111 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.262-25dup duplication Uncertain significance 333787 rs34184317 2:207013834-207013835 2:206149110-206149111 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*3098A>T SNV Uncertain significance 335159 rs886055813 2:240897437-240897437 2:239958020-239958020 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*2397A>G SNV Uncertain significance 335167 rs886055816 2:240898138-240898138 2:239958721-239958721 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1915G>A SNV Uncertain significance 335176 rs144590599 2:240898620-240898620 2:239959203-239959203 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*2297T>G SNV Uncertain significance 335169 rs773090030 2:240898238-240898238 2:239958821-239958821 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1129G>A SNV Uncertain significance 335184 rs886055822 2:240899406-240899406 2:239959989-239959989 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1011A>G SNV Uncertain significance 335185 rs575477219 2:240899524-240899524 2:239960107-239960107 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*925C>G SNV Uncertain significance 335186 rs149563558 2:240899610-240899610 2:239960193-239960193 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*740C>T SNV Uncertain significance 335187 rs886055823 2:240899795-240899795 2:239960378-239960378 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_001322019.1(NDUFA10):c.-87A>C SNV Uncertain significance 335205 rs886055827 2:240964805-240964805 2:240025388-240025388 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*3557G>A SNV Uncertain significance 335151 rs149933652 2:240896978-240896978 2:239957561-239957561 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*3205G>A SNV Uncertain significance 335155 rs886055811 2:240897330-240897330 2:239957913-239957913 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*3141C>T SNV Uncertain significance 335157 rs144864637 2:240897394-240897394 2:239957977-239957977 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*3113G>A SNV Uncertain significance 335158 rs886055812 2:240897422-240897422 2:239958005-239958005 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*2685C>A SNV Uncertain significance 335163 rs114807372 2:240897850-240897850 2:239958433-239958433 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*489A>G SNV Uncertain significance 335191 rs886055824 2:240900046-240900046 2:239960629-239960629 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*389C>T SNV Uncertain significance 335196 rs539829771 2:240900146-240900146 2:239960729-239960729 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*361A>G SNV Uncertain significance 335197 rs778261754 2:240900174-240900174 2:239960757-239960757 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.270G>A (p.Gly90=) SNV Uncertain significance 335203 rs770747594 2:240960804-240960804 2:240021387-240021387 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.-36C>T SNV Uncertain significance 335204 rs886055826 2:240964754-240964754 2:240025337-240025337 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_001322019.1(NDUFA10):c.-93G>T SNV Uncertain significance 335207 rs577432343 2:240964811-240964811 2:240025394-240025394 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*3408T>C SNV Uncertain significance 335153 rs886055810 2:240897127-240897127 2:239957710-239957710 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1214C>T SNV Uncertain significance 335181 rs546735567 2:240899321-240899321 2:239959904-239959904 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1212T>C SNV Uncertain significance 335182 rs886055821 2:240899323-240899323 2:239959906-239959906 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.1120A>G (p.Thr374Ala) SNV Uncertain significance 333784 rs765436915 2:207007423-207007423 2:206142699-206142699 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.*846dup duplication Uncertain significance 333764 rs58253838 2:206988062-206988063 2:206123338-206123339 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*2997G>A SNV Uncertain significance 335162 rs886055814 2:240897538-240897538 2:239958121-239958121 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*2149C>T SNV Uncertain significance 335171 rs570872300 2:240898386-240898386 2:239958969-239958969 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*2042A>C SNV Uncertain significance 335173 rs886055818 2:240898493-240898493 2:239959076-239959076 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199074.1(NDUFAF3):c.-94-450C>T SNV Uncertain significance 345957 rs886058665 3:49059329-49059329 3:49021896-49021896 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199074.1(NDUFAF3):c.-94-327G>C SNV Uncertain significance 345960 rs75749590 3:49059452-49059452 3:49022019-49022019 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199074.1(NDUFAF3):c.-94-319G>A SNV Uncertain significance 345961 rs886058666 3:49059460-49059460 3:49022027-49022027 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199069.2(NDUFAF3):c.38C>T (p.Ala13Val) SNV Uncertain significance 345962 rs886058667 3:49059615-49059615 3:49022182-49022182 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199069.2(NDUFAF3):c.551A>G (p.Gln184Arg) SNV Uncertain significance 345967 rs886058668 3:49060601-49060601 3:49023168-49023168 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199074.1(NDUFAF3):c.-94-690T>C SNV Uncertain significance 345953 rs886058662 3:49059089-49059089 3:49021656-49021656 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199074.1(NDUFAF3):c.-94-571A>G SNV Uncertain significance 345954 rs886058663 3:49059208-49059208 3:49021775-49021775 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199074.1(NDUFAF3):c.-94-442C>T SNV Uncertain significance 345958 rs573066357 3:49059337-49059337 3:49021904-49021904 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199069.2(NDUFAF3):c.312C>A (p.Leu104=) SNV Uncertain significance 345963 rs770941671 3:49060176-49060176 3:49022743-49022743 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199069.2(NDUFAF3):c.338-12A>C SNV Uncertain significance 345964 rs774901107 3:49060297-49060297 3:49022864-49022864 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199069.2(NDUFAF3):c.386A>G (p.Gln129Arg) SNV Uncertain significance 345965 rs544277179 3:49060357-49060357 3:49022924-49022924 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199069.2(NDUFAF3):c.438+9C>T SNV Uncertain significance 345966 rs374825937 3:49060418-49060418 3:49022985-49022985 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199069.2(NDUFAF3):c.*169G>C SNV Uncertain significance 345968 rs886058669 3:49060774-49060774 3:49023341-49023341 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199069.2(NDUFAF3):c.*194G>C SNV Uncertain significance 345969 rs78116829 3:49060799-49060799 3:49023366-49023366 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199074.1(NDUFAF3):c.-94-570C>T SNV Uncertain significance 345955 rs886058664 3:49059209-49059209 3:49021776-49021776 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199074.1(NDUFAF3):c.-94-564C>G SNV Uncertain significance 345956 rs760652685 3:49059215-49059215 3:49021782-49021782 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199074.1(NDUFAF3):c.-94-328G>C SNV Uncertain significance 345959 rs74601553 3:49059451-49059451 3:49022018-49022018 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA2 NM_002488.4(NDUFA2):c.135G>A (p.Lys45=) SNV Uncertain significance 351225 rs745399748 5:140026914-140026914 5:140647329-140647329 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199069.2(NDUFAF3):c.193A>T (p.Ser65Cys) SNV Uncertain significance 214747 rs200576852 3:49059894-49059894 3:49022461-49022461 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS4 NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro) SNV Uncertain significance 214817 rs149323691 5:52856505-52856505 5:53560675-53560675 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*372C>T SNV Uncertain significance 895992 2:240900163-240900163 2:239960746-239960746 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.1138C>G (p.His380Asp) SNV Uncertain significance 214795 rs144411579 1:161183191-161183191 1:161213401-161213401 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.1212G>A (p.Lys404=) SNV Uncertain significance 214796 rs145959971 1:161183265-161183265 1:161213475-161213475 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.1600G>A (p.Val534Met) SNV Uncertain significance 214774 rs201806038 2:206994920-206994920 2:206130196-206130196 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.867T>C (p.Ser289=) SNV Uncertain significance 293277 rs886045461 1:161180381-161180381 1:161210591-161210591 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.1213-9del deletion Uncertain significance 293280 rs750838845 1:161183429-161183429 1:161213639-161213639 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_001166159.1(NDUFS2):c.*330_*331GT[16] short repeat Uncertain significance 293284 rs10629771 1:161184059-161184060 1:161214269-161214270 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.*966A>G SNV Uncertain significance 333762 rs755776989 2:206987943-206987943 2:206123219-206123219 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.95+14C>T SNV Uncertain significance 293270 rs751472475 1:161172284-161172284 1:161202494-161202494 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.337A>G (p.Ile113Val) SNV Uncertain significance 293273 rs754241926 1:161176331-161176331 1:161206541-161206541 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.441C>T (p.Asn147=) SNV Uncertain significance 293274 rs140324736 1:161179030-161179030 1:161209240-161209240 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.*641A>G SNV Uncertain significance 333768 rs886055501 2:206988268-206988268 2:206123544-206123544 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_001166159.1(NDUFS2):c.*330_*331GT[18] short repeat Uncertain significance 293285 rs10629771 1:161184059-161184060 1:161214269-161214270 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.*108_*109dup duplication Uncertain significance 293287 rs886045468 1:161184089-161184090 1:161214299-161214300 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.-298C>G SNV Uncertain significance 293264 rs41270845 1:161169255-161169255 1:161199465-161199465 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.-218G>A SNV Uncertain significance 293265 rs563669084 1:161171958-161171958 1:161202168-161202168 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.-159C>A SNV Uncertain significance 293266 rs886045456 1:161172017-161172017 1:161202227-161202227 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_001166159.1(NDUFS2):c.*330_*331GT[14] short repeat Uncertain significance 293286 rs10629771 1:161184060-161184061 1:161214270-161214271 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.*93dup duplication Uncertain significance 333778 rs200446477 2:206988815-206988816 2:206124091-206124092 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.*561T>C SNV Uncertain significance 333769 rs146538309 2:206988348-206988348 2:206123624-206123624 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.*438C>T SNV Uncertain significance 333772 rs561980718 2:206988471-206988471 2:206123747-206123747 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.*151T>C SNV Uncertain significance 333777 rs533179154 2:206988758-206988758 2:206124034-206124034 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.154-10_154-9del deletion Uncertain significance 333789 rs568965659 2:207014658-207014659 2:206149934-206149935 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*3067C>T SNV Uncertain significance 335161 rs564992184 2:240897468-240897468 2:239958051-239958051 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*2649G>A SNV Uncertain significance 335164 rs886055815 2:240897886-240897886 2:239958469-239958469 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*2192T>A SNV Uncertain significance 335170 rs886055817 2:240898343-240898343 2:239958926-239958926 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*2111G>A SNV Uncertain significance 335172 rs752139055 2:240898424-240898424 2:239959007-239959007 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1894_*1914delinsGGG indel Uncertain significance 335177 rs886055819 2:240898621-240898641 2:239959204-239959224 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1262C>T SNV Uncertain significance 335179 rs759194775 2:240899273-240899273 2:239959856-239959856 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*546G>A SNV Uncertain significance 335190 rs192485848 2:240899989-240899989 2:239960572-239960572 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*412A>G SNV Uncertain significance 335194 rs546052985 2:240900123-240900123 2:239960706-239960706 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.368T>C (p.Val123Ala) SNV Uncertain significance 214735 rs151286131 15:41688890-41688890 15:41396692-41396692 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.249T>A (p.Asp83Glu) SNV Uncertain significance 214730 rs146540015 15:41689009-41689009 15:41396811-41396811 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.413G>A (p.Gly138Asp) SNV Uncertain significance 214876 rs201412882 14:32142591-32142591 14:31673385-31673385 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.488C>T (p.Ser163Leu) SNV Uncertain significance 214879 rs781341998 14:32142755-32142755 14:31673549-31673549 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.800G>A (p.Arg267Lys) SNV Uncertain significance 214857 rs141400889 11:67378565-67378565 11:67611094-67611094 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.1102G>A (p.Ala368Thr) SNV Uncertain significance 214860 rs376958800 11:67379389-67379389 11:67611918-67611918 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.1215A>G (p.Gly405=) SNV Uncertain significance 293281 rs886045464 1:161183441-161183441 1:161213651-161213651 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.*108A>T SNV Uncertain significance 293288 rs191955041 1:161184091-161184091 1:161214301-161214301 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.-388G>A SNV Uncertain significance 293261 rs3813623 1:161169165-161169165 1:161199375-161199375 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.162A>G (p.Pro54=) SNV Uncertain significance 293272 rs569128565 1:161173293-161173293 1:161203503-161203503 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.903C>T (p.Asp301=) SNV Uncertain significance 293278 rs886045462 1:161180417-161180417 1:161210627-161210627 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS3 NM_004551.3(NDUFS3):c.204C>G (p.Ile68Met) SNV Uncertain significance 291319 rs886044765 11:47602147-47602147 11:47580595-47580595 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.-156G>A SNV Uncertain significance 293267 rs886045457 1:161172020-161172020 1:161202230-161202230 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.-28C>T SNV Uncertain significance 293268 rs886045458 1:161172148-161172148 1:161202358-161202358 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.98G>A (p.Gly33Asp) SNV Uncertain significance 293271 rs886045459 1:161173229-161173229 1:161203439-161203439 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.*71_*76delinsTGCGTCTGTGTGTG indel Uncertain significance 293283 rs886045465 1:161184054-161184059 1:161214264-161214269 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.*187G>A SNV Uncertain significance 293290 rs886045469 1:161184170-161184170 1:161214380-161214380 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.-346G>A SNV Uncertain significance 293263 rs189165754 1:161169207-161169207 1:161199417-161199417 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF5 NM_024120.5(NDUFAF5):c.178G>A (p.Ala60Thr) SNV Uncertain significance 214202 rs146837138 20:13765892-13765892 20:13785246-13785246 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS7 NM_024407.5(NDUFS7):c.613C>G (p.Arg205Gly) SNV Uncertain significance 214830 rs775856806 19:1395458-1395458 19:1395459-1395459 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.1010G>A (p.Arg337His) SNV Uncertain significance 897590 2:240900593-240900593 2:239961176-239961176 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.994A>G (p.Arg332Gly) SNV Uncertain significance 897591 2:240929496-240929496 2:239990079-239990079 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.985C>T (p.His329Tyr) SNV Uncertain significance 898749 2:240929505-240929505 2:239990088-239990088 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.925A>G (p.Ser309Gly) SNV Uncertain significance 898750 2:240929565-240929565 2:239990148-239990148 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.630C>T (p.Pro210=) SNV Uncertain significance 895781 2:240954195-240954195 2:240014778-240014778 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.558C>T (p.His186=) SNV Uncertain significance 895782 2:240954267-240954267 2:240014850-240014850 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.529G>A (p.Gly177Arg) SNV Uncertain significance 896063 2:240957988-240957988 2:240018571-240018571 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.484T>C (p.Ser162Pro) SNV Uncertain significance 896064 2:240958033-240958033 2:240018616-240018616 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.363G>A (p.Pro121=) SNV Uncertain significance 897654 2:240960711-240960711 2:240021294-240021294 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.354C>T (p.Tyr118=) SNV Uncertain significance 897655 2:240960720-240960720 2:240021303-240021303 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.110G>T (p.Arg37Leu) SNV Uncertain significance 898818 2:240961723-240961723 2:240022306-240022306 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.63C>G (p.Gly21=) SNV Uncertain significance 895858 2:240964656-240964656 2:240025239-240025239 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.41C>G (p.Ser14Cys) SNV Uncertain significance 895859 2:240964678-240964678 2:240025261-240025261 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.29C>T (p.Ala10Val) SNV Uncertain significance 895860 2:240964690-240964690 2:240025273-240025273 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.-34C>T SNV Uncertain significance 896135 2:240964752-240964752 2:240025335-240025335 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*632G>A SNV Uncertain significance 897057 2:240899903-240899903 2:239960486-239960486 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*548G>C SNV Uncertain significance 897538 2:240899987-240899987 2:239960570-239960570 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*445C>G SNV Uncertain significance 898687 2:240900090-240900090 2:239960673-239960673 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*435A>G SNV Uncertain significance 898688 2:240900100-240900100 2:239960683-239960683 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1391C>T SNV Uncertain significance 898572 2:240899144-240899144 2:239959727-239959727 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1303C>T SNV Uncertain significance 898574 2:240899232-240899232 2:239959815-239959815 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1245G>A SNV Uncertain significance 895577 2:240899290-240899290 2:239959873-239959873 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1206G>A SNV Uncertain significance 896984 2:240899329-240899329 2:239959912-239959912 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1198G>A SNV Uncertain significance 896985 2:240899337-240899337 2:239959920-239959920 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1161C>T SNV Uncertain significance 897469 2:240899374-240899374 2:239959957-239959957 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1124C>T SNV Uncertain significance 897470 2:240899411-240899411 2:239959994-239959994 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1057T>G SNV Uncertain significance 897471 2:240899478-240899478 2:239960061-239960061 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1047T>C SNV Uncertain significance 898627 2:240899488-240899488 2:239960071-239960071 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*861C>G SNV Uncertain significance 898628 2:240899674-240899674 2:239960257-239960257 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*857G>C SNV Uncertain significance 895640 2:240899678-240899678 2:239960261-239960261 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*804T>C SNV Uncertain significance 895641 2:240899731-240899731 2:239960314-239960314 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*765C>T SNV Uncertain significance 895642 2:240899770-240899770 2:239960353-239960353 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*732T>G SNV Uncertain significance 897055 2:240899803-240899803 2:239960386-239960386 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1927G>C SNV Uncertain significance 898494 2:240898608-240898608 2:239959191-239959191 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1879G>A SNV Uncertain significance 895503 2:240898656-240898656 2:239959239-239959239 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1709T>C SNV Uncertain significance 896903 2:240898826-240898826 2:239959409-239959409 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1702G>A SNV Uncertain significance 896904 2:240898833-240898833 2:239959416-239959416 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1665C>A SNV Uncertain significance 896905 2:240898870-240898870 2:239959453-239959453 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1594G>A SNV Uncertain significance 896906 2:240898941-240898941 2:239959524-239959524 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1586A>G SNV Uncertain significance 897408 2:240898949-240898949 2:239959532-239959532 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1486C>T SNV Uncertain significance 897409 2:240899049-240899049 2:239959632-239959632 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1482C>G SNV Uncertain significance 897410 2:240899053-240899053 2:239959636-239959636 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*2079A>G SNV Uncertain significance 896839 2:240898456-240898456 2:239959039-239959039 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*2046T>C SNV Uncertain significance 896840 2:240898489-240898489 2:239959072-239959072 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*2009G>C SNV Uncertain significance 897335 2:240898526-240898526 2:239959109-239959109 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1992C>T SNV Uncertain significance 897336 2:240898543-240898543 2:239959126-239959126 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1943A>G SNV Uncertain significance 898492 2:240898592-240898592 2:239959175-239959175 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.-73C>A SNV Uncertain significance 896386 2:207024133-207024133 2:206159409-206159409 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.-75A>G SNV Uncertain significance 896387 2:207024135-207024135 2:206159411-206159411 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.*459A>G SNV Uncertain significance 896189 2:206988450-206988450 2:206123726-206123726 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*2136T>C SNV Uncertain significance 895441 2:240898399-240898399 2:239958982-239958982 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.-101G>A SNV Uncertain significance 898015 2:207024161-207024161 2:206159437-206159437 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NC_000002.12:g.206159485A>C SNV Uncertain significance 898016 2:207024209-207024209 2:206159485-206159485 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*3724G>A SNV Uncertain significance 896660 2:240896811-240896811 2:239957394-239957394 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*3711A>G SNV Uncertain significance 896661 2:240896824-240896824 2:239957407-239957407 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*2455C>G SNV Uncertain significance 897253 2:240898080-240898080 2:239958663-239958663 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*2382C>A SNV Uncertain significance 897254 2:240898153-240898153 2:239958736-239958736 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*2350G>A SNV Uncertain significance 898429 2:240898185-240898185 2:239958768-239958768 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*2242T>C SNV Uncertain significance 898430 2:240898293-240898293 2:239958876-239958876 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.1969G>A (p.Asp657Asn) SNV Uncertain significance 894804 2:206991484-206991484 2:206126760-206126760 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.1748T>C (p.Ile583Thr) SNV Uncertain significance 894805 2:206992657-206992657 2:206127933-206127933 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.1612C>T (p.Arg538Trp) SNV Uncertain significance 896255 2:206994908-206994908 2:206130184-206130184 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.1525G>T (p.Asp509Tyr) SNV Uncertain significance 896256 2:206997697-206997697 2:206132973-206132973 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.1291C>T (p.Leu431Phe) SNV Uncertain significance 897861 2:207003310-207003310 2:206138586-206138586 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.986T>C (p.Met329Thr) SNV Uncertain significance 894879 2:207008743-207008743 2:206144019-206144019 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.768G>A (p.Ala256=) SNV Uncertain significance 894880 2:207009720-207009720 2:206144996-206144996 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.361T>C (p.Leu121=) SNV Uncertain significance 897942 2:207012536-207012536 2:206147812-206147812 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.337A>G (p.Arg113Gly) SNV Uncertain significance 897943 2:207013745-207013745 2:206149021-206149021 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.70A>G (p.Thr24Ala) SNV Uncertain significance 899080 2:207017226-207017226 2:206152502-206152502 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.63T>C (p.Val21=) SNV Uncertain significance 899081 2:207017233-207017233 2:206152509-206152509 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.32T>A (p.Val11Glu) SNV Uncertain significance 894948 2:207018371-207018371 2:206153647-206153647 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.-31A>G SNV Uncertain significance 894949 2:207024091-207024091 2:206159367-206159367 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.-38T>G SNV Uncertain significance 894950 2:207024098-207024098 2:206159374-206159374 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.-61G>C SNV Uncertain significance 896384 2:207024121-207024121 2:206159397-206159397 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.1022C>T (p.Ala341Val) SNV Uncertain significance 14058 rs121913660 11:67378982-67378982 11:67611511-67611511 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*1247A>G SNV Uncertain significance 910628 6:97337733-97337733 6:96889857-96889857 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*1213C>T SNV Uncertain significance 911847 6:97337767-97337767 6:96889891-96889891 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*782T>C SNV Uncertain significance 908900 6:97338198-97338198 6:96890322-96890322 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*482A>G SNV Uncertain significance 908902 6:97338498-97338498 6:96890622-96890622 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*305C>A SNV Uncertain significance 909769 6:97338675-97338675 6:96890799-96890799 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*289C>T SNV Uncertain significance 909770 6:97338691-97338691 6:96890815-96890815 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*119T>C SNV Uncertain significance 910677 6:97338861-97338861 6:96890985-96890985 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*14A>C SNV Uncertain significance 910678 6:97338966-97338966 6:96891090-96891090 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.189G>C (p.Ser63=) SNV Uncertain significance 911909 6:97344671-97344671 6:96896795-96896795 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.60G>T (p.Arg20=) SNV Uncertain significance 911910 6:97345618-97345618 6:96897742-96897742 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.-11G>T SNV Uncertain significance 911911 6:97345688-97345688 6:96897812-96897812 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.-20G>T SNV Uncertain significance 908969 6:97345697-97345697 6:96897821-96897821 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.-65C>G SNV Uncertain significance 908970 6:97345742-97345742 6:96897866-96897866 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.166G>A (p.Gly56Arg) SNV Uncertain significance 214885 rs200401432 14:32031331-32031331 14:31562125-31562125 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.261+6T>C SNV Uncertain significance 899079 2:207014536-207014536 2:206149812-206149812 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.749+5G>A SNV Uncertain significance 895780 2:240951029-240951029 2:240011612-240011612 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.460+5A>G SNV Uncertain significance 897653 2:240960609-240960609 2:240021192-240021192 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199074.1(NDUFAF3):c.-94-704G>A SNV Uncertain significance 901751 3:49059075-49059075 3:49021642-49021642 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199074.1(NDUFAF3):c.-94-704G>C SNV Uncertain significance 901752 3:49059075-49059075 3:49021642-49021642 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199074.1(NDUFAF3):c.-94-344A>T SNV Uncertain significance 902655 3:49059435-49059435 3:49022002-49022002 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199069.2(NDUFAF3):c.26G>T (p.Ser9Ile) SNV Uncertain significance 902656 3:49059603-49059603 3:49022170-49022170 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199069.2(NDUFAF3):c.191A>C (p.Asn64Thr) SNV Uncertain significance 902657 3:49059892-49059892 3:49022459-49022459 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199069.2(NDUFAF3):c.205A>T (p.Met69Leu) SNV Uncertain significance 900108 3:49059906-49059906 3:49022473-49022473 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199069.2(NDUFAF3):c.226C>T (p.Leu76Phe) SNV Uncertain significance 900109 3:49059927-49059927 3:49022494-49022494 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199069.2(NDUFAF3):c.258G>A (p.Val86=) SNV Uncertain significance 900110 3:49059959-49059959 3:49022526-49022526 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199069.2(NDUFAF3):c.536T>C (p.Leu179Ser) SNV Uncertain significance 901272 3:49060586-49060586 3:49023153-49023153 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199069.2(NDUFAF3):c.*98A>G SNV Uncertain significance 901273 3:49060703-49060703 3:49023270-49023270 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199069.2(NDUFAF3):c.*243G>A SNV Uncertain significance 901274 3:49060848-49060848 3:49023415-49023415 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA2 NM_002488.5(NDUFA2):c.26G>T (p.Gly9Val) SNV Uncertain significance 906252 5:140027143-140027143 5:140647558-140647558 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA2 NM_001185012.1(NDUFA2):c.-114T>A SNV Uncertain significance 907246 5:140027282-140027282 5:140647697-140647697 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS6 NM_004553.6(NDUFS6):c.11C>T (p.Ala4Val) SNV Uncertain significance 904123 5:1801542-1801542 5:1801428-1801428 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS6 NM_004553.6(NDUFS6):c.*46C>T SNV Uncertain significance 906499 5:1816076-1816076 5:1815962-1815962 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS6 NM_004553.6(NDUFS6):c.*99G>C SNV Uncertain significance 906500 5:1816129-1816129 5:1816015-1816015 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS4 NM_002495.4(NDUFS4):c.5C>A (p.Ala2Glu) SNV Uncertain significance 905818 5:52856497-52856497 5:53560667-53560667 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS4 NM_002495.4(NDUFS4):c.9G>T (p.Ala3=) SNV Uncertain significance 905819 5:52856501-52856501 5:53560671-53560671 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS4 NM_002495.4(NDUFS4):c.77C>T (p.Ser26Phe) SNV Uncertain significance 906327 5:52856569-52856569 5:53560739-53560739 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS4 NM_002495.4(NDUFS4):c.107G>A (p.Arg36Lys) SNV Uncertain significance 907333 5:52899290-52899290 5:53603460-53603460 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS4 NM_002495.4(NDUFS4):c.*88T>A SNV Uncertain significance 905876 5:52979139-52979139 5:53683309-53683309 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF2 NM_174889.5(NDUFAF2):c.100T>C (p.Tyr34His) SNV Uncertain significance 906819 5:60241182-60241182 5:60945355-60945355 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF2 NM_174889.5(NDUFAF2):c.136A>G (p.Ile46Val) SNV Uncertain significance 907813 5:60368960-60368960 5:61073133-61073133 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF2 NM_174889.5(NDUFAF2):c.423A>G (p.Glu141=) SNV Uncertain significance 904500 5:60448695-60448695 5:61152868-61152868 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS4 NM_002495.4(NDUFS4):c.350+6T>C SNV Uncertain significance 903998 5:52942241-52942241 5:53646411-53646411 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*1728G>A SNV Uncertain significance 909701 6:97337252-97337252 6:96889376-96889376 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*1368A>G SNV Uncertain significance 910625 6:97337612-97337612 6:96889736-96889736 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*1334G>A SNV Uncertain significance 910626 6:97337646-97337646 6:96889770-96889770 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS3 NM_004551.3(NDUFS3):c.149G>A (p.Arg50Gln) SNV Uncertain significance 522043 rs1555198759 11:47602092-47602092 11:47580540-47580540 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 ACAD9 NM_014049.5(ACAD9):c.959-3C>G SNV Uncertain significance 522638 rs1553731751 3:128622902-128622902 3:128904059-128904059 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.632G>C (p.Gly211Ala) SNV Uncertain significance 522718 rs536400690 11:126145222-126145222 11:126275327-126275327 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS3 NM_004551.3(NDUFS3):c.596G>A (p.Arg199Gln) SNV Uncertain significance 523006 rs771783839 11:47603989-47603989 11:47582437-47582437 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.568C>T (p.Pro190Ser) SNV Uncertain significance 548593 rs1555065162 11:126144853-126144853 11:126274958-126274958 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.731A>T (p.Asn244Ile) SNV Uncertain significance 548567 rs1235686151 11:67378496-67378496 11:67611025-67611025 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS4 NM_002495.4(NDUFS4):c.512_514dup (p.Val172_Ser173insGly) duplication Uncertain significance 557691 rs1425486695 5:52979034-52979035 5:53683204-53683205 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.2129G>A (p.Cys710Tyr) SNV Uncertain significance 561063 rs765677840 2:206988964-206988964 2:206124240-206124240 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.1249A>G (p.Arg417Gly) SNV Uncertain significance 561062 rs1127567 2:207006678-207006678 2:206141954-206141954 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.349A>G (p.Met117Val) SNV Uncertain significance 562204 rs773620793 14:32068552-32068552 14:31599346-31599346 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.454C>T (p.Arg152Cys) SNV Uncertain significance 451087 rs151144350 11:67377050-67377050 11:67609579-67609579 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.1378A>G (p.Arg460Gly) SNV Uncertain significance 499932 rs139086727 11:126147501-126147501 11:126277606-126277606 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.495_496del (p.Arg166fs) deletion Uncertain significance 632085 rs1558084765 1:161179083-161179084 1:161209293-161209294 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF3 NM_199069.2(NDUFAF3):c.550C>T (p.Gln184Ter) SNV Uncertain significance 632420 rs527841371 3:49060600-49060600 3:49023167-49023167 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV2 NM_021074.5(NDUFV2):c.435dup (p.Asp146Ter) duplication Uncertain significance 632302 rs771236417 18:9122644-9122645 18:9122646-9122647 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.418-1G>T SNV Uncertain significance 632155 rs771941278 11:126143230-126143230 11:126273335-126273335 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV2 NM_021074.5(NDUFV2):c.120+1G>C SNV Uncertain significance 632301 rs749991624 18:9117902-9117902 18:9117904-9117904 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.901A>T (p.Ile301Phe) SNV Uncertain significance 634501 rs759274620 15:41679725-41679725 15:41387527-41387527 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.908C>G (p.Thr303Ser) SNV Uncertain significance 417877 rs75666426 2:207008821-207008821 2:206144097-206144097 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.754C>T (p.Arg252Cys) SNV Uncertain significance 445528 rs146661281 11:126145709-126145709 11:126275814-126275814 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.-61A>G SNV Uncertain significance 877317 11:67374415-67374415 11:67606944-67606944 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.101C>T (p.Ser34Leu) SNV Uncertain significance 878347 11:67375895-67375895 11:67608424-67608424 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.446T>C (p.Met149Thr) SNV Uncertain significance 880156 11:67377042-67377042 11:67609571-67609571 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.929G>T (p.Gly310Val) SNV Uncertain significance 880211 11:67378889-67378889 11:67611418-67611418 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.1217C>T (p.Pro406Leu) SNV Uncertain significance 877426 11:67379645-67379645 11:67612174-67612174 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.1233C>T (p.Ser411=) SNV Uncertain significance 877427 11:67379661-67379661 11:67612190-67612190 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.1355G>A (p.Arg452Gln) SNV Uncertain significance 879040 11:67379889-67379889 11:67612418-67612418 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS8 NM_002496.4(NDUFS8):c.5G>A (p.Arg2His) SNV Uncertain significance 877478 11:67799623-67799623 11:68032156-68032156 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.417+6T>C SNV Uncertain significance 878054 11:126142980-126142980 11:126273085-126273085 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NC_000011.10:g.67606846G>T SNV Uncertain significance 880116 11:67374317-67374317 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.1308+7A>T SNV Uncertain significance 878453 11:67379743-67379743 11:67612272-67612272 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS8 NM_002496.4(NDUFS8):c.269C>T (p.Pro90Leu) SNV Uncertain significance 882092 11:67800647-67800647 11:68033180-68033180 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS8 NM_002496.4(NDUFS8):c.574G>A (p.Gly192Arg) SNV Uncertain significance 884038 11:67804001-67804001 11:68036534-68036534 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.4G>C (p.Gly2Arg) SNV Uncertain significance 881212 14:32030649-32030649 14:31561443-31561443 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.25C>T (p.Leu9Phe) SNV Uncertain significance 881213 14:32030670-32030670 14:31561464-31561464 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.71C>T (p.Pro24Leu) SNV Uncertain significance 881214 14:32030716-32030716 14:31561510-31561510 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.90G>A (p.Ala30=) SNV Uncertain significance 881679 14:32030735-32030735 14:31561529-31561529 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.287A>T (p.Asp96Val) SNV Uncertain significance 881680 14:32034250-32034250 14:31565044-31565044 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.777A>G (p.Ala259=) SNV Uncertain significance 883615 14:32315760-32315760 14:31846554-31846554 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.703-11T>G SNV Uncertain significance 800789 1:161179890-161179890 1:161210100-161210100 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.1367T>C (p.Ile456Thr) SNV Uncertain significance 876337 1:161183958-161183958 1:161214168-161214168 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NC_000011.10:g.126269056C>A SNV Uncertain significance 879828 11:126138951-126138951 11:126269056-126269056 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.318C>T (p.Ala106=) SNV Uncertain significance 878053 11:126142875-126142875 11:126272980-126272980 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.457C>T (p.Arg153Trp) SNV Uncertain significance 878055 11:126143270-126143270 11:126273375-126273375 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.551A>G (p.Lys184Arg) SNV Uncertain significance 879517 11:126144836-126144836 11:126274941-126274941 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.1121C>T (p.Ala374Val) SNV Uncertain significance 879884 11:126146985-126146985 11:126277090-126277090 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.1167C>T (p.Pro389=) SNV Uncertain significance 879885 11:126147031-126147031 11:126277136-126277136 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.1225G>A (p.Gly409Ser) SNV Uncertain significance 877946 11:126147348-126147348 11:126277453-126277453 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.*71A>G SNV Uncertain significance 877947 11:126147655-126147655 11:126277760-126277760 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.*130A>C SNV Uncertain significance 898933 2:206988779-206988779 2:206124055-206124055 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 ELAC2 NM_018127.7(ELAC2):c.1567C>T (p.Gln523Ter) SNV Uncertain significance 870073 17:12899956-12899956 17:12996639-12996639 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 ELAC2 NM_018127.7(ELAC2):c.1532C>A (p.Ser511Tyr) SNV Uncertain significance 870074 17:12899991-12899991 17:12996674-12996674 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS4 NM_002495.4(NDUFS4):c.355G>C (p.Asp119His) SNV Uncertain significance 587577 rs747359752 5:52954385-52954385 5:53658555-53658555 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.*211T>C SNV Uncertain significance 878109 11:126147795-126147795 11:126277900-126277900 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.*374T>G SNV Uncertain significance 878110 11:126147958-126147958 11:126278063-126278063 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS3 NM_004551.3(NDUFS3):c.-15C>G SNV Uncertain significance 877751 11:47600629-47600629 11:47579077-47579077 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS3 NM_004551.3(NDUFS3):c.34C>T (p.Arg12Cys) SNV Uncertain significance 877752 11:47600677-47600677 11:47579125-47579125 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS3 NM_004551.3(NDUFS3):c.425G>A (p.Arg142His) SNV Uncertain significance 879372 11:47603683-47603683 11:47582131-47582131 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS3 NM_004551.3(NDUFS3):c.737G>A (p.Arg246His) SNV Uncertain significance 879752 11:47605975-47605975 11:47584423-47584423 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS3 NM_004551.3(NDUFS3):c.*32G>A SNV Uncertain significance 877791 11:47606065-47606065 11:47584513-47584513 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS3 NM_004551.3(NDUFS3):c.*39C>T SNV Uncertain significance 878835 11:47606072-47606072 11:47584520-47584520 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*3490G>C SNV Uncertain significance 897121 2:240897045-240897045 2:239957628-239957628 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*3456T>G SNV Uncertain significance 897122 2:240897079-240897079 2:239957662-239957662 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*3409G>A SNV Uncertain significance 898284 2:240897126-240897126 2:239957709-239957709 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*3403A>G SNV Uncertain significance 895289 2:240897132-240897132 2:239957715-239957715 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*3347C>T SNV Uncertain significance 895290 2:240897188-240897188 2:239957771-239957771 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*3301C>T SNV Uncertain significance 895291 2:240897234-240897234 2:239957817-239957817 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*3175T>G SNV Uncertain significance 896710 2:240897360-240897360 2:239957943-239957943 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*3143C>T SNV Uncertain significance 896711 2:240897392-240897392 2:239957975-239957975 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*3095A>G SNV Uncertain significance 897183 2:240897440-240897440 2:239958023-239958023 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*3052G>A SNV Uncertain significance 898349 2:240897483-240897483 2:239958066-239958066 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*3009T>C SNV Uncertain significance 898350 2:240897526-240897526 2:239958109-239958109 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*2900G>A SNV Uncertain significance 895371 2:240897635-240897635 2:239958218-239958218 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*2838C>A SNV Uncertain significance 895372 2:240897697-240897697 2:239958280-239958280 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*2659A>C SNV Uncertain significance 896774 2:240897876-240897876 2:239958459-239958459 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*2648C>T SNV Uncertain significance 896775 2:240897887-240897887 2:239958470-239958470 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*72T>C SNV Uncertain significance 881257 14:32328458-32328458 14:31859252-31859252 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*237G>T SNV Uncertain significance 881258 14:32328623-32328623 14:31859417-31859417 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*301G>T SNV Uncertain significance 881259 14:32328687-32328687 14:31859481-31859481 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*323G>T SNV Uncertain significance 881718 14:32328709-32328709 14:31859503-31859503 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*344T>C SNV Uncertain significance 881719 14:32328730-32328730 14:31859524-31859524 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*736C>G SNV Uncertain significance 882868 14:32329122-32329122 14:31859916-31859916 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*742C>G SNV Uncertain significance 882869 14:32329128-32329128 14:31859922-31859922 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*806A>G SNV Uncertain significance 882870 14:32329192-32329192 14:31859986-31859986 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*817T>A SNV Uncertain significance 882871 14:32329203-32329203 14:31859997-31859997 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*850C>T SNV Uncertain significance 882872 14:32329236-32329236 14:31860030-31860030 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*864C>T SNV Uncertain significance 882873 14:32329250-32329250 14:31860044-31860044 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1047C>T SNV Uncertain significance 883661 14:32329433-32329433 14:31860227-31860227 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1370C>T SNV Uncertain significance 883662 14:32329756-32329756 14:31860550-31860550 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1554A>G SNV Uncertain significance 881319 14:32329940-32329940 14:31860734-31860734 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1594T>G SNV Uncertain significance 881320 14:32329980-32329980 14:31860774-31860774 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1621C>T SNV Uncertain significance 881321 14:32330007-32330007 14:31860801-31860801 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1655A>G SNV Uncertain significance 881322 14:32330041-32330041 14:31860835-31860835 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1768G>A SNV Uncertain significance 881766 14:32330154-32330154 14:31860948-31860948 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1940A>C SNV Uncertain significance 881767 14:32330326-32330326 14:31861120-31861120 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1963C>A SNV Uncertain significance 882915 14:32330349-32330349 14:31861143-31861143 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.721A>G (p.Met241Val) SNV Uncertain significance 886698 15:41687095-41687095 15:41394897-41394897 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.701A>G (p.Asn234Ser) SNV Uncertain significance 887952 15:41687115-41687115 15:41394917-41394917 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.536G>A (p.Arg179Gln) SNV Uncertain significance 887953 15:41688722-41688722 15:41396524-41396524 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.429G>A (p.Thr143=) SNV Uncertain significance 884806 15:41688829-41688829 15:41396631-41396631 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.284G>A (p.Arg95Lys) SNV Uncertain significance 884807 15:41688974-41688974 15:41396776-41396776 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.238G>C (p.Val80Leu) SNV Uncertain significance 884808 15:41689020-41689020 15:41396822-41396822 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.-34C>G SNV Uncertain significance 885739 15:41689291-41689291 15:41397093-41397093 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.-165C>T SNV Uncertain significance 885740 15:41694425-41694425 15:41402227-41402227 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.-192T>C SNV Uncertain significance 885741 15:41694452-41694452 15:41402254-41402254 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.-242G>C SNV Uncertain significance 886746 15:41694502-41694502 15:41402304-41402304 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV2 NM_021074.5(NDUFV2):c.6C>T (p.Phe2=) SNV Uncertain significance 889249 18:9102747-9102747 18:9102749-9102749 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV2 NM_021074.5(NDUFV2):c.442A>C (p.Ile148Leu) SNV Uncertain significance 889926 18:9122652-9122652 18:9122654-9122654 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV2 NM_021074.5(NDUFV2):c.678G>A (p.Glu226=) SNV Uncertain significance 891481 18:9134205-9134205 18:9134207-9134207 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV2 NM_021074.5(NDUFV2):c.*51A>C SNV Uncertain significance 891482 18:9134328-9134328 18:9134330-9134330 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV2 NM_021074.5(NDUFV2):c.*57C>T SNV Uncertain significance 891483 18:9134334-9134334 18:9134336-9134336 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS7 NM_024407.5(NDUFS7):c.5C>T (p.Ala2Val) SNV Uncertain significance 891489 19:1383930-1383930 19:1383931-1383931 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS7 NM_024407.5(NDUFS7):c.45T>G (p.Leu15=) SNV Uncertain significance 891739 19:1387838-1387838 19:1387839-1387839 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS7 NM_024407.5(NDUFS7):c.158C>T (p.Ala53Val) SNV Uncertain significance 889310 19:1388867-1388867 19:1388868-1388868 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS7 NM_024407.5(NDUFS7):c.525C>T (p.Pro175=) SNV Uncertain significance 889995 19:1393310-1393310 19:1393311-1393311 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS7 NM_024407.5(NDUFS7):c.*94G>A SNV Uncertain significance 891813 19:1395581-1395581 19:1395582-1395582 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV2 NM_021074.5(NDUFV2):c.469+12A>G SNV Uncertain significance 889927 18:9122691-9122691 18:9122693-9122693 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS7 NM_024407.5(NDUFS7):c.455+13C>T SNV Uncertain significance 889993 19:1391177-1391177 19:1391178-1391178 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA11 NM_175614.5(NDUFA11):c.*63G>A SNV Uncertain significance 894131 19:5894690-5894690 19:5894679-5894679 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA11 NM_175614.5(NDUFA11):c.288C>T (p.Ala96=) SNV Uncertain significance 894521 19:5896489-5896489 19:5896478-5896478 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA11 NM_175614.5(NDUFA11):c.234C>T (p.Ala78=) SNV Uncertain significance 894522 19:5896543-5896543 19:5896532-5896532 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA11 NM_175614.5(NDUFA11):c.104C>G (p.Thr35Ser) SNV Uncertain significance 894523 19:5897002-5897002 19:5896991-5896991 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA11 NM_175614.5(NDUFA11):c.64G>T (p.Ala22Ser) SNV Uncertain significance 894524 19:5903656-5903656 19:5903645-5903645 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA11 NC_000019.10:g.5903990A>G SNV Uncertain significance 893310 19:5904001-5904001 19:5903990-5903990 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.*1077A>T SNV Uncertain significance 897717 2:206987832-206987832 2:206123108-206123108 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.*938C>T SNV Uncertain significance 897718 2:206987971-206987971 2:206123247-206123247 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.*864G>A SNV Uncertain significance 898873 2:206988045-206988045 2:206123321-206123321 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.*93G>A SNV Likely benign 877948 11:126147677-126147677 11:126277782-126277782 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*26C>G SNV Likely benign 883616 14:32328412-32328412 14:31859206-31859206 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*1299G>A SNV Likely benign 910627 6:97337681-97337681 6:96889805-96889805 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*639A>C SNV Likely benign 908901 6:97338341-97338341 6:96890465-96890465 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*1214G>A SNV Likely benign 911846 6:97337766-97337766 6:96889890-96889890 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.*256C>T SNV Likely benign 333775 rs10198830 2:206988653-206988653 2:206123929-206123929 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.*846del deletion Likely benign 333765 rs58253838 2:206988063-206988063 2:206123339-206123339 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.1054C>G (p.Pro352Ala) SNV Likely benign 129697 rs11576415 1:161182208-161182208 1:161212418-161212418 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS4 NM_002495.4(NDUFS4):c.424+19dup duplication Likely benign 353891 rs140172554 5:52954468-52954469 5:53658638-53658639 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1923_*1924insA insertion Likely benign 335175 rs138899326 2:240898611-240898612 2:239959194-239959195 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*387C>T SNV Likely benign 358263 rs41288596 6:97338593-97338593 6:96890717-96890717 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*1062T>G SNV Likely benign 358256 rs76370016 6:97337918-97337918 6:96890042-96890042 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*350A>C SNV Likely benign 358265 rs41288598 6:97338630-97338630 6:96890754-96890754 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV2 NM_021074.4(NDUFV2):c.*77C>G SNV Likely benign 369253 rs12454908 18:9134354-9134354 18:9134356-9134356 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 GAMT NM_000156.6(GAMT):c.*311C>G SNV Likely benign 328343 rs266811 19:1397047-1397047 19:1397048-1397048 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS7 NM_000156.6(GAMT):c.*311C>G SNV Likely benign 328343 rs266811 19:1397047-1397047 19:1397048-1397048 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 GAMT NM_000156.6(GAMT):c.*151T>C SNV Likely benign 328345 rs659460 19:1397207-1397207 19:1397208-1397208 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS7 NM_000156.6(GAMT):c.*151T>C SNV Likely benign 328345 rs659460 19:1397207-1397207 19:1397208-1397208 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA11 NM_175614.4(NDUFA11):c.-234T>C SNV Likely benign 330245 rs115530541 19:5903953-5903953 19:5903942-5903942 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.*190T>C SNV Likely benign 303550 rs77902129 11:126147774-126147774 11:126277879-126277879 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*537dup duplication Likely benign 313041 rs200626091 14:32328922-32328923 14:31859716-31859717 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 GAMT NM_000156.6(GAMT):c.*276C>T SNV Likely benign 328344 rs266810 19:1397082-1397082 19:1397083-1397083 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS7 NM_000156.6(GAMT):c.*276C>T SNV Likely benign 328344 rs266810 19:1397082-1397082 19:1397083-1397083 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.-386A>T SNV Likely benign 315887 rs111326645 15:41694646-41694646 15:41402448-41402448 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.-379C>T SNV Likely benign 315886 rs146883891 15:41694639-41694639 15:41402441-41402441 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1451C>T SNV Likely benign 313064 rs28533800 14:32329837-32329837 14:31860631-31860631 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.*79C>T SNV Benign/Likely benign 305760 rs76839099 11:67380008-67380008 11:67612537-67612537 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS8 NM_002496.4(NDUFS8):c.*14C>T SNV Benign/Likely benign 305774 rs1051806 11:67804074-67804074 11:68036607-68036607 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 TCIRG1 NM_002496.4(NDUFS8):c.*14C>T SNV Benign/Likely benign 305774 rs1051806 11:67804074-67804074 11:68036607-68036607 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 GAMT NM_000156.6(GAMT):c.*146A>C SNV Benign/Likely benign 328346 rs659455 19:1397212-1397212 19:1397213-1397213 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS7 NM_000156.6(GAMT):c.*146A>C SNV Benign/Likely benign 328346 rs659455 19:1397212-1397212 19:1397213-1397213 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*407C>T SNV Benign/Likely benign 335195 rs74614612 2:240900128-240900128 2:239960711-239960711 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.241-18dup duplication Benign/Likely benign 358272 rs34213186 6:97339275-97339276 6:96891399-96891400 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.*158T>C SNV Benign/Likely benign 333776 rs3770989 2:206988751-206988751 2:206124027-206124027 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 ERCC8 NM_174889.4(NDUFAF2):c.-91C>T SNV Benign/Likely benign 354028 rs4647036 5:60240992-60240992 5:60945165-60945165 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF2 NM_174889.4(NDUFAF2):c.-91C>T SNV Benign/Likely benign 354028 rs4647036 5:60240992-60240992 5:60945165-60945165 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.*399G>A SNV Benign/Likely benign 333773 rs77000728 2:206988510-206988510 2:206123786-206123786 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*3075T>G SNV Benign/Likely benign 335160 rs7588974 2:240897460-240897460 2:239958043-239958043 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*2495C>T SNV Benign/Likely benign 335166 rs78395168 2:240898040-240898040 2:239958623-239958623 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*3349G>A SNV Benign/Likely benign 335154 rs77216981 2:240897186-240897186 2:239957769-239957769 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys) SNV Benign/Likely benign 138437 rs35462421 2:240951071-240951071 2:240011654-240011654 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.526G>A (p.Glu176Lys) SNV Benign/Likely benign 138454 rs35227875 15:41688732-41688732 15:41396534-41396534 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.558A>G (p.Ile186Met) SNV Benign/Likely benign 138455 rs34979001 15:41688700-41688700 15:41396502-41396502 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF2 NM_174889.5(NDUFAF2):c.462T>C (p.Phe154=) SNV Benign/Likely benign 138457 rs77878573 5:60448734-60448734 5:61152907-61152907 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.111C>T (p.Asn37=) SNV Benign/Likely benign 138459 rs139675421 6:97345567-97345567 6:96897691-96897691 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.414T>C (p.Asp138=) SNV Benign/Likely benign 138473 rs11548670 2:207012483-207012483 2:206147759-206147759 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 GAMT NM_024407.5(NDUFS7):c.*13C>A SNV Benign/Likely benign 138494 rs11551663 19:1395500-1395500 19:1395501-1395501 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS7 NM_024407.5(NDUFS7):c.*13C>A SNV Benign/Likely benign 138494 rs11551663 19:1395500-1395500 19:1395501-1395501 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.986+12A>G SNV Benign/Likely benign 138486 rs11265565 1:161180512-161180512 1:161210722-161210722 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.551+14C>A SNV Benign/Likely benign 138475 rs10206644 2:207012241-207012241 2:206147517-206147517 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.975C>T (p.Arg325=) SNV Benign/Likely benign 138476 rs2230890 2:207008754-207008754 2:206144030-206144030 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV2 NM_021074.5(NDUFV2):c.580-12T>A SNV Benign/Likely benign 138507 rs114558512 18:9126817-9126817 18:9126819-9126819 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS8 NM_002496.4(NDUFS8):c.-45A>C SNV Benign/Likely benign 138499 rs4147776 11:67798156-67798156 11:68030689-68030689 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.123C>T (p.Val41=) SNV Benign/Likely benign 138482 rs2230888 2:207017173-207017173 2:206152449-206152449 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.194A>G (p.Asn65Ser) SNV Benign/Likely benign 214697 rs35715497 2:240961639-240961639 2:240022222-240022222 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.1000-5del deletion Benign/Likely benign 214702 rs138479490 2:240900608-240900608 2:239961191-239961191 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF2 NM_174889.5(NDUFAF2):c.300A>T (p.Ile100=) SNV Benign/Likely benign 214737 rs191388646 5:60448572-60448572 5:61152745-61152745 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 GAMT NM_000156.6(GAMT):c.626C>T (p.Thr209Met) SNV Benign/Likely benign 21068 rs17851582 19:1397443-1397443 19:1397444-1397444 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS7 NM_000156.6(GAMT):c.626C>T (p.Thr209Met) SNV Benign/Likely benign 21068 rs17851582 19:1397443-1397443 19:1397444-1397444 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA1 NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) SNV Benign/Likely benign 36974 rs1801316 X:119005968-119005968 X:119872005-119872005 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 GAMT NM_000156.6(GAMT):c.571-6G>A SNV Benign/Likely benign 129130 rs2074899 19:1397504-1397504 19:1397505-1397505 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS7 NM_000156.6(GAMT):c.571-6G>A SNV Benign/Likely benign 129130 rs2074899 19:1397504-1397504 19:1397505-1397505 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*2202C>T SNV Benign/Likely benign 895440 2:240898333-240898333 2:239958916-239958916 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*3544C>T SNV Benign/Likely benign 897120 2:240896991-240896991 2:239957574-239957574 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1878C>T SNV Benign/Likely benign 895504 2:240898657-240898657 2:239959240-239959240 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1217A>G SNV Benign/Likely benign 895578 2:240899318-240899318 2:239959901-239959901 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1382C>T SNV Benign/Likely benign 898573 2:240899153-240899153 2:239959736-239959736 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.1393-7T>A SNV Benign/Likely benign 897860 2:206997836-206997836 2:206133112-206133112 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.*574T>G SNV Benign/Likely benign 895906 2:206988335-206988335 2:206123611-206123611 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*2511C>T SNV Benign/Likely benign 897252 2:240898024-240898024 2:239958607-239958607 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.*53T>G SNV Benign/Likely benign 898934 2:206988856-206988856 2:206124132-206124132 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.105A>G (p.Lys35=) SNV Benign 129685 rs2083411 2:240961728-240961728 2:240022311-240022311 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.771A>G (p.Gln257=) SNV Benign 129686 rs13848 2:240946766-240946766 2:240007349-240007349 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.26G>A (p.Arg9His) SNV Benign 129688 rs1899 15:41689232-41689232 15:41397034-41397034 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.92G>T (p.Arg31Leu) SNV Benign 129689 rs3204853 15:41689166-41689166 15:41396968-41396968 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.941C>G (p.Ala314Gly) SNV Benign 129690 rs12900702 15:41679685-41679685 15:41387487-41387487 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 ERCC8 NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) SNV Benign 129691 rs158921 5:60241142-60241142 5:60945315-60945315 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF2 NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) SNV Benign 129691 rs158921 5:60241142-60241142 5:60945315-60945315 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.420G>A (p.Gln140=) SNV Benign 129692 rs11402 6:97339088-97339088 6:96891212-96891212 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.430T>C (p.Leu144=) SNV Benign 129693 rs6684 6:97339078-97339078 6:96891202-96891202 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=) SNV Benign 129695 rs1801318 2:207006676-207006676 2:206141952-206141952 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.966G>T (p.Ala322=) SNV Benign 129696 rs1127566 2:207008763-207008763 2:206144039-206144039 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV2 NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala) SNV Benign 9054 rs906807 18:9117867-9117867 18:9117869-9117869 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*396C>G SNV Benign 895707 2:240900139-240900139 2:239960722-239960722 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS7 NM_024407.5(NDUFS7):c.408+10G>T SNV Benign 138498 rs2074896 19:1391059-1391059 19:1391060-1391060 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.549C>G (p.Gly183=) SNV Benign 138501 rs10896187 11:67377890-67377890 11:67610419-67610419 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.1056T>C (p.Ala352=) SNV Benign 138502 rs11227859 11:67379016-67379016 11:67611545-67611545 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.24G>A (p.Leu8=) SNV Benign 138440 rs113012830 2:240964695-240964695 2:240025278-240025278 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.1290C>T (p.Ala430=) SNV Benign 129698 rs1136207 1:161183516-161183516 1:161213726-161213726 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS4 NM_002495.4(NDUFS4):c.12G>C (p.Val4=) SNV Benign 129699 rs2279516 5:52856504-52856504 5:53560674-53560674 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS4 NM_002495.4(NDUFS4):c.198A>C (p.Gly66=) SNV Benign 129700 rs31304 5:52942083-52942083 5:53646253-53646253 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS4 NM_002495.4(NDUFS4):c.312A>G (p.Arg104=) SNV Benign 129701 rs31303 5:52942197-52942197 5:53646367-53646367 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS7 NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu) SNV Benign 129702 rs1142530 19:1388538-1388538 19:1388539-1388539 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV2 NM_021074.5(NDUFV2):c.201A>T (p.Val67=) SNV Benign 129703 rs41274300 18:9119489-9119489 18:9119491-9119491 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.*733A>G SNV Benign 333767 rs6707707 2:206988176-206988176 2:206123452-206123452 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.58C>A (p.Pro20Thr) SNV Benign 293269 rs11538340 1:161172233-161172233 1:161202443-161202443 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.*114A>G SNV Benign 293289 rs1136224 1:161184097-161184097 1:161214307-161214307 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS2 NM_004550.4(NDUFS2):c.-388G>T SNV Benign 293262 rs3813623 1:161169165-161169165 1:161199375-161199375 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*308C>T SNV Benign 335198 rs8369 2:240900227-240900227 2:239960810-239960810 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.-47C>G SNV Benign 333790 rs4147707 2:207024107-207024107 2:206159383-206159383 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*3450G>A SNV Benign 335152 rs7573892 2:240897085-240897085 2:239957668-239957668 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.*336G>T SNV Benign 333774 rs1044120 2:206988573-206988573 2:206123849-206123849 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.5C>G (p.Ala2Gly) SNV Benign 290734 rs11541494 2:240964714-240964714 2:240025297-240025297 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1229C>G SNV Benign 335180 rs55998047 2:240899306-240899306 2:239959889-239959889 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*3204C>T SNV Benign 335156 rs34277046 2:240897331-240897331 2:239957914-239957914 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*631C>T SNV Benign 335189 rs10933622 2:240899904-240899904 2:239960487-239960487 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.*457T>A SNV Benign 333771 rs4147728 2:206988452-206988452 2:206123728-206123728 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1189C>T SNV Benign 335183 rs66534347 2:240899346-240899346 2:239959929-239959929 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*1957G>A SNV Benign 335174 rs4854069 2:240898578-240898578 2:239959161-239959161 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*2602C>T SNV Benign 335165 rs58261980 2:240897933-240897933 2:239958516-239958516 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*2309G>A SNV Benign 335168 rs1132778 2:240898226-240898226 2:239958809-239958809 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA2 NM_002488.4(NDUFA2):c.-48A>G SNV Benign 351226 rs778593 5:140027216-140027216 5:140647631-140647631 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS6 NM_004553.5(NDUFS6):c.310-15T>C SNV Benign 353193 rs10058270 5:1815950-1815950 5:1815836-1815836 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*323A>T SNV Benign 358267 rs9487453 6:97338657-97338657 6:96890781-96890781 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*301T>A SNV Benign 358268 rs1854268 6:97338679-97338679 6:96890803-96890803 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 ERCC8 NM_174889.4(NDUFAF2):c.-97A>G SNV Benign 354027 rs158922 5:60240986-60240986 5:60945159-60945159 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF2 NM_174889.4(NDUFAF2):c.-97A>G SNV Benign 354027 rs158922 5:60240986-60240986 5:60945159-60945159 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*438C>T SNV Benign 335192 rs13396556 2:240900097-240900097 2:239960680-239960680 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA10 NM_004544.4(NDUFA10):c.*414G>A SNV Benign 335193 rs13424612 2:240900121-240900121 2:239960704-239960704 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA2 NM_002488.4(NDUFA2):c.-136A>G SNV Benign 351231 rs778594 5:140027304-140027304 5:140647719-140647719 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*1443G>A SNV Benign 358249 rs7758762 6:97337537-97337537 6:96889661-96889661 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*382T>A SNV Benign 358264 rs1971475 6:97338598-97338598 6:96890722-96890722 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.-2T>C SNV Benign 303532 rs1786702 11:126139100-126139100 11:126269205-126269205 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF4 NM_014165.4(NDUFAF4):c.*332A>T SNV Benign 358266 rs10499008 6:97338648-97338648 6:96890772-96890772 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS4 NM_002495.4(NDUFS4):c.*46G>A SNV Benign 353892 rs567 5:52979097-52979097 5:53683267-53683267 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA11 NM_175614.4(NDUFA11):c.-88C>A SNV Benign 330240 rs8108064 19:5903807-5903807 19:5903796-5903796 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.*129C>G SNV Benign 303548 rs594318 11:126147713-126147713 11:126277818-126277818 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.-66G>A SNV Benign 305738 rs73490568 11:67374410-67374410 11:67606939-67606939 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1694G>A SNV Benign 313068 rs1129623 14:32330080-32330080 14:31860874-31860874 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 FOXRED1 NM_017547.4(FOXRED1):c.*113G>A SNV Benign 303547 rs667627 11:126147697-126147697 11:126277802-126277802 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1685A>G SNV Benign 313067 rs1129622 14:32330071-32330071 14:31860865-31860865 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFA11 NM_175614.4(NDUFA11):c.-217A>G SNV Benign 330244 rs1056987 19:5903936-5903936 19:5903925-5903925 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*122G>C SNV Benign 313032 rs4981131 14:32328508-32328508 14:31859302-31859302 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*312G>A SNV Benign 313036 rs10162516 14:32328698-32328698 14:31859492-31859492 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*836C>G SNV Benign 313044 rs10147479 14:32329222-32329222 14:31860016-31860016 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*273C>T SNV Benign 313035 rs76188062 14:32328659-32328659 14:31859453-31859453 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF1 NM_016013.4(NDUFAF1):c.909G>A (p.Val303=) SNV Benign 315875 rs73407109 15:41679717-41679717 15:41387519-41387519 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*995T>C SNV Benign 313046 rs10136892 14:32329381-32329381 14:31860175-31860175 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1874A>G SNV Benign 313072 rs10348 14:32330260-32330260 14:31861054-31861054 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*1888G>A SNV Benign 313073 rs7148746 14:32330274-32330274 14:31861068-31861068 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NUBPL NM_025152.3(NUBPL):c.*444C>T SNV Benign 313039 rs10162515 14:32328830-32328830 14:31859624-31859624 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFS8 NM_002496.4(NDUFS8):c.199+15T>G SNV Benign 305765 rs3115545 11:67800494-67800494 11:68033027-68033027 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 SLC25A10 NM_012140.5(SLC25A10):c.657C>T (p.Pro219=) SNV no interpretation for the single variant 446183 rs114621664 17:79684843-79684843 17:81717813-81717813 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 SLC25A10 NM_012140.5(SLC25A10):c.763-37G>A SNV no interpretation for the single variant 446188 rs200706742 17:79686969-79686969 17:81719939-81719939 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFV1 NM_007103.4(NDUFV1):c.491A>G (p.Asn164Ser) SNV not provided 585028 rs1024767789 11:67377087-67377087 11:67609616-67609616 MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 NDUFAF2 NM_174889.5(NDUFAF2):c.1A>T (p.Met1Leu) SNV Pathogenic 496596 rs1554076306 5:60241083-60241083 5:60945256-60945256 MTC158 Mitochondrial Complex I Deficiency, Nuclear Type 10 NDUFAF2 NM_174889.5(NDUFAF2):c.9G>A (p.Trp3Ter) SNV Pathogenic 496598 rs1554076309 5:60241091-60241091 5:60945264-60945264 MTC158 Mitochondrial Complex I Deficiency, Nuclear Type 10 NDUFAF2 NM_174889.5(NDUFAF2):c.103del (p.Ile35fs) deletion Pathogenic 1595 rs1554076324 5:60241185-60241185 5:60945358-60945358 MTC158 Mitochondrial Complex I Deficiency, Nuclear Type 10 NDUFAF2 NM_174889.5(NDUFAF2):c.139C>T (p.Arg47Ter) SNV Pathogenic/Likely pathogenic 1594 rs137852863 5:60368963-60368963 5:61073136-61073136 MTC158 Mitochondrial Complex I Deficiency, Nuclear Type 10 ERCC8 NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter) SNV Conflicting interpretations of pathogenicity 419231 rs199754807 5:60241196-60241196 5:60945369-60945369 MTC158 Mitochondrial Complex I Deficiency, Nuclear Type 10 NDUFAF2 NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter) SNV Conflicting interpretations of pathogenicity 419231 rs199754807 5:60241196-60241196 5:60945369-60945369 MTC158 Mitochondrial Complex I Deficiency, Nuclear Type 10 NDUFAF2 NM_174889.5(NDUFAF2):c.462T>C (p.Phe154=) SNV Benign/Likely benign 138457 rs77878573 5:60448734-60448734 5:61152907-61152907 MTC158 Mitochondrial Complex I Deficiency, Nuclear Type 10 NDUFAF1 NM_016013.4(NDUFAF1):c.619A>C (p.Thr207Pro) SNV Pathogenic 30622 rs387906956 15:41687197-41687197 15:41394999-41394999 MTC159 Mitochondrial Complex I Deficiency, Nuclear Type 11 NDUFAF1 NM_016013.4(NDUFAF1):c.758A>G (p.Lys253Arg) SNV Pathogenic 30623 rs387906957 15:41687058-41687058 15:41394860-41394860 MTC159 Mitochondrial Complex I Deficiency, Nuclear Type 11 NDUFAF1 NM_016013.4(NDUFAF1):c.631C>T (p.Arg211Cys) SNV Pathogenic 30624 rs387906958 15:41687185-41687185 15:41394987-41394987 MTC159 Mitochondrial Complex I Deficiency, Nuclear Type 11 NDUFAF1 NM_016013.4(NDUFAF1):c.733G>A (p.Gly245Arg) SNV Pathogenic 30625 rs376344575 15:41687083-41687083 15:41394885-41394885 MTC159 Mitochondrial Complex I Deficiency, Nuclear Type 11 NDUFAF1 NM_016013.4(NDUFAF1):c.526G>A (p.Glu176Lys) SNV Benign/Likely benign 138454 rs35227875 15:41688732-41688732 15:41396534-41396534 MTC159 Mitochondrial Complex I Deficiency, Nuclear Type 11 NDUFA1 NM_004541.4(NDUFA1):c.22G>C (p.Gly8Arg) SNV Pathogenic 11648 rs104894884 X:119005896-119005896 X:119871933-119871933 MTC147 Mitochondrial Complex I Deficiency, Nuclear Type 12 NDUFA1 NM_004541.4(NDUFA1):c.111G>C (p.Arg37Ser) SNV Pathogenic 11649 rs104894885 X:119007275-119007275 X:119873312-119873312 MTC147 Mitochondrial Complex I Deficiency, Nuclear Type 12 NDUFA1 NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) SNV Benign/Likely benign 36974 rs1801316 X:119005968-119005968 X:119872005-119872005 MTC147 Mitochondrial Complex I Deficiency, Nuclear Type 12 NDUFA2 NM_002488.4(NDUFA2):c.208+5G>A SNV Pathogenic 7515 rs1168752295 5:140026836-140026836 5:140647251-140647251 MTC160 Mitochondrial Complex I Deficiency, Nuclear Type 13 NDUFA11 NM_175614.5(NDUFA11):c.97+5G>A SNV Pathogenic 449316 rs1348957889 19:5903618-5903618 19:5903607-5903607 MTC161 Mitochondrial Complex I Deficiency, Nuclear Type 14 NDUFAF4 NM_014165.4(NDUFAF4):c.7G>C (p.Ala3Pro) SNV Conflicting interpretations of pathogenicity 499267 rs1554197721 6:97345671-97345671 6:96897795-96897795 MTC162 Mitochondrial Complex I Deficiency, Nuclear Type 15 NDUFAF4 NM_014165.4(NDUFAF4):c.40C>A (p.Leu14Ile) SNV Benign/Likely benign 376856 rs145392673 6:97345638-97345638 6:96897762-96897762 MTC162 Mitochondrial Complex I Deficiency, Nuclear Type 15 NDUFAF5 NM_024120.5(NDUFAF5):c.686T>C (p.Leu229Pro) SNV Pathogenic 570 rs118203929 20:13782298-13782298 20:13801652-13801652 MTC163 Mitochondrial Complex I Deficiency, Nuclear Type 16 NDUFAF5 NM_024120.5(NDUFAF5):c.477A>C (p.Leu159Phe) SNV Pathogenic 571 rs267606689 20:13775585-13775585 20:13794939-13794939 MTC163 Mitochondrial Complex I Deficiency, Nuclear Type 16 NDUFAF5 NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val) SNV Pathogenic/Likely pathogenic 372253 rs757043077 20:13789519-13789519 20:13808873-13808873 MTC163 Mitochondrial Complex I Deficiency, Nuclear Type 16 NDUFAF5 NM_024120.5(NDUFAF5):c.821T>A (p.Leu274Gln) SNV Likely pathogenic 800896 20:13797151-13797151 20:13816505-13816505 MTC163 Mitochondrial Complex I Deficiency, Nuclear Type 16 NDUFAF5 NM_024120.5(NDUFAF5):c.146G>T (p.Arg49Leu) SNV Likely pathogenic 803603 20:13765860-13765860 20:13785214-13785214 MTC163 Mitochondrial Complex I Deficiency, Nuclear Type 16 NDUFAF5 NM_024120.5(NDUFAF5):c.183G>C (p.Arg61=) SNV Conflicting interpretations of pathogenicity 136600 rs139219896 20:13765897-13765897 20:13785251-13785251 MTC163 Mitochondrial Complex I Deficiency, Nuclear Type 16 NDUFAF5 NM_024120.5(NDUFAF5):c.1029dup (p.Ser344fs) duplication Uncertain significance 374218 rs778575439 20:13797841-13797842 20:13817195-13817196 MTC163 Mitochondrial Complex I Deficiency, Nuclear Type 16 NDUFAF5 NM_024120.5(NDUFAF5):c.222+9_222+10insGCGGGGCGGCGGGGCG insertion Benign 810933 20:13765943-13765944 20:13785297-13785298 MTC163 Mitochondrial Complex I Deficiency, Nuclear Type 16 NDUFAF6 NM_152416.4(NDUFAF6):c.532G>C (p.Ala178Pro) SNV Pathogenic 372254 rs201088736 8:96057827-96057827 8:95045599-95045599 MTC164 Mitochondrial Complex I Deficiency, Nuclear Type 17 NDUFAF6 NM_152416.4(NDUFAF6):c.805C>G (p.His269Asp) SNV Pathogenic 372255 rs768273248 8:96060775-96060775 8:95048547-95048547 MTC164 Mitochondrial Complex I Deficiency, Nuclear Type 17 NDUFAF6 NM_152416.4(NDUFAF6):c.226T>C (p.Ser76Pro) SNV Pathogenic 372256 rs1057519084 8:96044251-96044251 8:95032023-95032023 MTC164 Mitochondrial Complex I Deficiency, Nuclear Type 17 NDUFAF6 NM_152416.4(NDUFAF6):c.206A>T (p.Asp69Val) SNV Pathogenic 372258 rs1057519085 8:96044231-96044231 8:95032003-95032003 MTC164 Mitochondrial Complex I Deficiency, Nuclear Type 17 NDUFAF6 NM_152416.4(NDUFAF6):c.820A>G (p.Arg274Gly) SNV Pathogenic 372259 rs1057519086 8:96064405-96064405 8:95052177-95052177 MTC164 Mitochondrial Complex I Deficiency, Nuclear Type 17 NDUFAF6 NM_152416.4(NDUFAF6):c.296A>G (p.Gln99Arg) SNV Pathogenic 547 rs137853184 8:96044321-96044321 8:95032093-95032093 MTC164 Mitochondrial Complex I Deficiency, Nuclear Type 17 NDUFAF6 NM_152416.4(NDUFAF6):c.371T>C (p.Ile124Thr) SNV Uncertain significance 214212 rs201732170 8:96047755-96047755 8:95035527-95035527 MTC164 Mitochondrial Complex I Deficiency, Nuclear Type 17 NDUFAF6 NM_152416.4(NDUFAF6):c.838G>A (p.Val280Ile) SNV Benign/Likely benign 136605 rs61743028 8:96064423-96064423 8:95052195-95052195 MTC164 Mitochondrial Complex I Deficiency, Nuclear Type 17 NDUFAF3 NM_199069.2(NDUFAF3):c.229G>C (p.Gly77Arg) SNV Pathogenic 422 rs121918134 3:49059930-49059930 3:49022497-49022497 MTC165 Mitochondrial Complex I Deficiency, Nuclear Type 18 NDUFAF3 NM_199069.2(NDUFAF3):c.365G>C (p.Arg122Pro) SNV Pathogenic 423 rs121918135 3:49060336-49060336 3:49022903-49022903 MTC165 Mitochondrial Complex I Deficiency, Nuclear Type 18 NDUFAF3 NM_199069.2(NDUFAF3):c.2T>C (p.Met1Thr) SNV Pathogenic 424 rs121918136 3:49059579-49059579 3:49022146-49022146 MTC165 Mitochondrial Complex I Deficiency, Nuclear Type 18 NDUFAF3 NM_199069.2(NDUFAF3):c.494C>T (p.Ala165Val) SNV Likely pathogenic 638292 3:49060544-49060544 3:49023111-49023111 MTC165 Mitochondrial Complex I Deficiency, Nuclear Type 18 FOXRED1 NM_017547.4(FOXRED1):c.694C>T (p.Gln232Ter) SNV Pathogenic 5 rs267606829 11:126145284-126145284 11:126275389-126275389 MTC166 Mitochondrial Complex I Deficiency, Nuclear Type 19 FOXRED1 NM_017547.4(FOXRED1):c.1289A>G (p.Asn430Ser) SNV Pathogenic 6 rs267606830 11:126147412-126147412 11:126277517-126277517 MTC166 Mitochondrial Complex I Deficiency, Nuclear Type 19 FOXRED1 NM_017547.4(FOXRED1):c.1054C>T (p.Arg352Trp) SNV Pathogenic 31048 rs387907087 11:126146371-126146371 11:126276476-126276476 MTC166 Mitochondrial Complex I Deficiency, Nuclear Type 19 FOXRED1 NM_017547.4(FOXRED1):c.1261G>A (p.Val421Met) SNV Pathogenic 870426 11:126147384-126147384 11:126277489-126277489 MTC166 Mitochondrial Complex I Deficiency, Nuclear Type 19 FOXRED1 NM_017547.4(FOXRED1):c.86-1G>A SNV Pathogenic/Likely pathogenic 214454 rs768720209 11:126141331-126141331 11:126271436-126271436 MTC166 Mitochondrial Complex I Deficiency, Nuclear Type 19 FOXRED1 NM_017547.4(FOXRED1):c.209G>C (p.Gly70Ala) SNV Likely pathogenic 915282 11:126141455-126141455 11:126271560-126271560 MTC166 Mitochondrial Complex I Deficiency, Nuclear Type 19 NDUFS8 NM_002496.4(NDUFS8):c.254C>T (p.Pro85Leu) SNV Pathogenic 7513 rs121912639 11:67800632-67800632 11:68033165-68033165 MTC152 Mitochondrial Complex I Deficiency, Nuclear Type 2 NDUFS8 NM_002496.4(NDUFS8):c.413G>A (p.Arg138His) SNV Pathogenic 7514 rs111033588 11:67803760-67803760 11:68036293-68036293 MTC152 Mitochondrial Complex I Deficiency, Nuclear Type 2 NDUFS8 NM_002496.4(NDUFS8):c.476C>A (p.Ala159Asp) SNV Pathogenic 39834 rs397514617 11:67803823-67803823 11:68036356-68036356 MTC152 Mitochondrial Complex I Deficiency, Nuclear Type 2 NDUFS8 NM_002496.4(NDUFS8):c.187G>C (p.Glu63Gln) SNV Pathogenic 39835 rs397514618 11:67800467-67800467 11:68033000-68033000 MTC152 Mitochondrial Complex I Deficiency, Nuclear Type 2 NDUFS8 NM_002496.4(NDUFS8):c.236C>T (p.Pro79Leu) SNV Likely pathogenic 7511 rs28939679 11:67800614-67800614 11:68033147-68033147 MTC152 Mitochondrial Complex I Deficiency, Nuclear Type 2 NDUFS8 NM_002496.4(NDUFS8):c.305G>A (p.Arg102His) SNV Uncertain significance 7512 rs121912638 11:67800683-67800683 11:68033216-68033216 MTC152 Mitochondrial Complex I Deficiency, Nuclear Type 2 NDUFS8 NM_002496.4(NDUFS8):c.229C>T (p.Arg77Trp) SNV Uncertain significance 39833 rs146766138 11:67800607-67800607 11:68033140-68033140 MTC152 Mitochondrial Complex I Deficiency, Nuclear Type 2 NDUFS8 NM_002496.4(NDUFS8):c.460G>A (p.Gly154Ser) SNV Uncertain significance 446006 rs143337739 11:67803807-67803807 11:68036340-68036340 MTC152 Mitochondrial Complex I Deficiency, Nuclear Type 2 ACAD9 NM_014049.5(ACAD9):c.1109del (p.Pro370fs) deletion Pathogenic 816931 3:128623307-128623307 3:128904464-128904464 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.1344_1348dup (p.Thr450fs) duplication Pathogenic 638407 3:128627092-128627093 3:128908249-128908250 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.1249C>T (p.Arg417Cys) SNV Pathogenic 30880 rs368949613 3:128625063-128625063 3:128906220-128906220 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.130T>A (p.Phe44Ile) SNV Pathogenic 30881 rs387907041 3:128598664-128598664 3:128879821-128879821 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.797G>A (p.Arg266Gln) SNV Pathogenic 30882 rs387907042 3:128618293-128618293 3:128899450-128899450 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.509C>T (p.Ala170Val) SNV Pathogenic 372249 rs762521317 3:128615334-128615334 3:128896491-128896491 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.1687C>G (p.His563Asp) SNV Pathogenic 372250 rs1057518752 3:128628987-128628987 3:128910144-128910144 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.359del (p.Phe120fs) deletion Pathogenic/Likely pathogenic 242524 rs863224844 3:128614164-128614164 3:128895321-128895321 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp) SNV Likely pathogenic 242466 rs753711253 3:128618292-128618292 3:128899449-128899449 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.1594C>T (p.Arg532Trp) SNV Likely pathogenic 30884 rs377022708 3:128628894-128628894 3:128910051-128910051 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.632A>G (p.Lys211Arg) SNV Likely pathogenic 869392 3:128616552-128616552 3:128897709-128897709 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.842C>T (p.Pro281Leu) SNV Likely pathogenic 869393 3:128620152-128620152 3:128901309-128901309 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.976G>C (p.Ala326Pro) SNV Conflicting interpretations of pathogenicity 30883 rs115532916 3:128622922-128622922 3:128904079-128904079 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.693C>T (p.Val231=) SNV Conflicting interpretations of pathogenicity 751548 3:128618189-128618189 3:128899346-128899346 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.453+8A>G SNV Conflicting interpretations of pathogenicity 559263 rs199919500 3:128614267-128614267 3:128895424-128895424 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr) SNV Conflicting interpretations of pathogenicity 136253 rs115532916 3:128622922-128622922 3:128904079-128904079 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.1398C>T (p.Thr466=) SNV Conflicting interpretations of pathogenicity 343200 rs772732061 3:128627855-128627855 3:128909012-128909012 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.195T>C (p.Asn65=) SNV Conflicting interpretations of pathogenicity 343192 rs144978857 3:128603540-128603540 3:128884697-128884697 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.1062C>T (p.Tyr354=) SNV Conflicting interpretations of pathogenicity 343195 rs886057957 3:128623261-128623261 3:128904418-128904418 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.1650C>G (p.Ala550=) SNV Conflicting interpretations of pathogenicity 343205 rs559422558 3:128628950-128628950 3:128910107-128910107 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.1221A>G (p.Thr407=) SNV Conflicting interpretations of pathogenicity 377418 rs139048558 3:128625035-128625035 3:128906192-128906192 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.1069G>A (p.Glu357Lys) SNV Uncertain significance 343196 rs765411526 3:128623268-128623268 3:128904425-128904425 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.1190C>T (p.Ala397Val) SNV Uncertain significance 343197 rs768894091 3:128625004-128625004 3:128906161-128906161 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.452A>G (p.Lys151Arg) SNV Uncertain significance 810717 3:128614258-128614258 3:128895415-128895415 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.44G>C (p.Arg15Pro) SNV Uncertain significance 343191 rs886057955 3:128598578-128598578 3:128879735-128879735 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.1832A>G (p.Tyr611Cys) SNV Uncertain significance 390412 rs1057523761 3:128631416-128631416 3:128912573-128912573 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.1496A>G (p.Asn499Ser) SNV Uncertain significance 343204 rs369787602 3:128628197-128628197 3:128909354-128909354 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.*504G>A SNV Uncertain significance 343214 rs549991044 3:128631954-128631954 3:128913111-128913111 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.-65_-64GT[6] short repeat Uncertain significance 343188 rs397874507 3:128598469-128598470 3:128879626-128879627 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.41C>T (p.Ala14Val) SNV Uncertain significance 343190 rs886057954 3:128598575-128598575 3:128879732-128879732 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.1258C>T (p.Arg420Cys) SNV Uncertain significance 343198 rs202147766 3:128625072-128625072 3:128906229-128906229 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.1415G>A (p.Arg472Gln) SNV Uncertain significance 343201 rs762081272 3:128627872-128627872 3:128909029-128909029 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.1474C>T (p.Pro492Ser) SNV Uncertain significance 343202 rs886057958 3:128627931-128627931 3:128909088-128909088 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.4(ACAD9):c.-168T>C SNV Uncertain significance 343186 rs183973851 3:128598367-128598367 3:128879524-128879524 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.*92A>C SNV Uncertain significance 343211 rs367762859 3:128631542-128631542 3:128912699-128912699 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.4(ACAD9):c.-91G>T SNV Uncertain significance 343187 rs749695064 3:128598444-128598444 3:128879601-128879601 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.346+15del deletion Uncertain significance 343193 rs886057956 3:128612514-128612514 3:128893671-128893671 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.555T>G (p.Ser185Arg) SNV Uncertain significance 343194 rs781738719 3:128616475-128616475 3:128897632-128897632 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.1765+13T>C SNV Uncertain significance 343207 rs764208038 3:128629669-128629669 3:128910826-128910826 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.152A>T (p.Lys51Ile) SNV Uncertain significance 214010 rs149931573 3:128603497-128603497 3:128884654-128884654 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.442A>G (p.Ile148Val) SNV Uncertain significance 213995 rs202119704 3:128614248-128614248 3:128895405-128895405 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.928G>A (p.Val310Ile) SNV Uncertain significance 213989 rs139073821 3:128621441-128621441 3:128902598-128902598 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.1022T>C (p.Leu341Ser) SNV Uncertain significance 214001 rs141874052 3:128622968-128622968 3:128904125-128904125 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp) SNV Uncertain significance 214007 rs139145143 3:128627862-128627862 3:128909019-128909019 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.1525G>A (p.Gly509Ser) SNV Uncertain significance 214009 rs141036010 3:128628226-128628226 3:128909383-128909383 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.453+2T>A SNV Uncertain significance 631903 rs1179305061 3:128614261-128614261 3:128895418-128895418 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.106G>C (p.Val36Leu) SNV Uncertain significance 903612 3:128598640-128598640 3:128879797-128879797 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.284A>C (p.Asp95Ala) SNV Uncertain significance 903613 3:128612437-128612437 3:128893594-128893594 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.366C>T (p.Asn122=) SNV Uncertain significance 903614 3:128614172-128614172 3:128895329-128895329 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.383T>G (p.Leu128Arg) SNV Uncertain significance 900020 3:128614189-128614189 3:128895346-128895346 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.778G>A (p.Glu260Lys) SNV Uncertain significance 900022 3:128618274-128618274 3:128899431-128899431 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.906C>T (p.Ser302=) SNV Uncertain significance 901179 3:128621419-128621419 3:128902576-128902576 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.907G>A (p.Gly303Ser) SNV Uncertain significance 901180 3:128621420-128621420 3:128902577-128902577 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.1063G>A (p.Val355Ile) SNV Uncertain significance 901733 3:128623262-128623262 3:128904419-128904419 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.1191G>A (p.Ala397=) SNV Uncertain significance 901735 3:128625005-128625005 3:128906162-128906162 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.1330G>A (p.Ala444Thr) SNV Uncertain significance 902643 3:128627079-128627079 3:128908236-128908236 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.1664G>A (p.Arg555His) SNV Uncertain significance 900092 3:128628964-128628964 3:128910121-128910121 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.1705A>C (p.Asn569His) SNV Uncertain significance 900093 3:128629596-128629596 3:128910753-128910753 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.*204C>T SNV Uncertain significance 901255 3:128631654-128631654 3:128912811-128912811 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.*221C>T SNV Uncertain significance 901256 3:128631671-128631671 3:128912828-128912828 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.*341C>T SNV Uncertain significance 901792 3:128631791-128631791 3:128912948-128912948 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.*499G>A SNV Uncertain significance 901793 3:128631949-128631949 3:128913106-128913106 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.634-3C>T SNV Uncertain significance 900021 3:128618127-128618127 3:128899284-128899284 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.1150-5C>T SNV Uncertain significance 901734 3:128624959-128624959 3:128906116-128906116 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.*223_*224GA[4] short repeat Likely benign 343212 rs146518015 3:128631673-128631674 3:128912830-128912831 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.1331C>T (p.Ala444Val) SNV Benign/Likely benign 343199 rs549861940 3:128627080-128627080 3:128908237-128908237 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.1675C>A (p.Arg559Ser) SNV Benign/Likely benign 343206 rs138871762 3:128628975-128628975 3:128910132-128910132 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.-44_-41dup duplication Benign/Likely benign 1018 rs387906242 3:128598490-128598491 3:128879647-128879648 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.988A>C (p.Lys330Gln) SNV Benign/Likely benign 136254 rs79530903 3:128622934-128622934 3:128904091-128904091 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.1430G>A (p.Arg477Gln) SNV Benign 136255 rs4494951 3:128627887-128627887 3:128909044-128909044 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.379A>C (p.Arg127=) SNV Benign 166635 rs1680778 3:128614185-128614185 3:128895342-128895342 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.1279-7A>G SNV Benign 166636 rs1683787 3:128627021-128627021 3:128908178-128908178 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.808+63GT[14] short repeat Benign 802003 3:128618367-128618378 3:128899524-128899535 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.*31G>A SNV Benign 343209 rs9830739 3:128631481-128631481 3:128912638-128912638 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.787T>C (p.Leu263=) SNV Benign 136252 rs1979529 3:128618283-128618283 3:128899440-128899440 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.*68C>T SNV Benign 343210 rs116106966 3:128631518-128631518 3:128912675-128912675 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.*331T>G SNV Benign 343213 rs114763241 3:128631781-128631781 3:128912938-128912938 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.-65_-64GT[4] short repeat Benign 343189 rs397874507 3:128598470-128598471 3:128879627-128879628 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.*26C>T SNV Benign 343208 rs373417322 3:128631476-128631476 3:128912633-128912633 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 ACAD9 NM_014049.5(ACAD9):c.1476C>T (p.Pro492=) SNV Benign 343203 rs876755 3:128627933-128627933 3:128909090-128909090 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 NUBPL NM_025152.3(NUBPL):c.726C>G (p.Phe242Leu) SNV Pathogenic 635348 14:32315709-32315709 14:31846503-31846503 MTC167 Mitochondrial Complex I Deficiency, Nuclear Type 21 NUBPL NM_025152.3(NUBPL):c.351G>A (p.Met117Ile) SNV Pathogenic 915894 14:32068554-32068554 14:31599348-31599348 MTC167 Mitochondrial Complex I Deficiency, Nuclear Type 21 NUBPL NC_000014.9:g.(31394019_31414809)_(31654321_31655889)del deletion Pathogenic 8 14:31863225-32125095 14:31394019-31655889 MTC167 Mitochondrial Complex I Deficiency, Nuclear Type 21 NUBPL NM_025152.3(NUBPL):c.667_668insCCTTGTGCTG (p.Glu223delinsAlaLeuCysTer) insertion Pathogenic 50214 rs879255565 14:32295888-32295889 14:31826682-31826683 MTC167 Mitochondrial Complex I Deficiency, Nuclear Type 21 NUBPL NM_025152.3(NUBPL):c.693+1G>A SNV Pathogenic 50216 rs751631278 14:32295921-32295921 14:31826715-31826715 MTC167 Mitochondrial Complex I Deficiency, Nuclear Type 21 NUBPL NM_025152.3(NUBPL):c.579A>C (p.Leu193Phe) SNV Pathogenic 50217 rs552722349 14:32257051-32257051 14:31787845-31787845 MTC167 Mitochondrial Complex I Deficiency, Nuclear Type 21 NUBPL NM_025152.3(NUBPL):c.311T>C (p.Leu104Pro) SNV Pathogenic/Likely pathogenic 209179 rs201430951 14:32068514-32068514 14:31599308-31599308 MTC167 Mitochondrial Complex I Deficiency, Nuclear Type 21 NUBPL NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr) SNV Likely pathogenic 50215 rs397515440 14:32068516-32068516 14:31599310-31599310 MTC167 Mitochondrial Complex I Deficiency, Nuclear Type 21 NUBPL NM_025152.3(NUBPL):c.815-27T>C SNV Conflicting interpretations of pathogenicity 50317 rs118161496 14:32319298-32319298 14:31850092-31850092 MTC167 Mitochondrial Complex I Deficiency, Nuclear Type 21 NUBPL NM_025152.3(NUBPL):c.166G>A (p.Gly56Arg) SNV Uncertain significance 214885 rs200401432 14:32031331-32031331 14:31562125-31562125 MTC167 Mitochondrial Complex I Deficiency, Nuclear Type 21 NUBPL NM_025152.3(NUBPL):c.265G>A (p.Ala89Thr) SNV Uncertain significance 638497 14:32034228-32034228 14:31565022-31565022 MTC167 Mitochondrial Complex I Deficiency, Nuclear Type 21 NUBPL NM_025152.3(NUBPL):c.625A>T (p.Thr209Ser) SNV Uncertain significance 638498 14:32295852-32295852 14:31826646-31826646 MTC167 Mitochondrial Complex I Deficiency, Nuclear Type 21 NDUFA10 NM_004544.4(NDUFA10):c.1A>G (p.Met1Val) SNV Pathogenic 30392 rs387906872 2:240964718-240964718 2:240025301-240025301 MTC168 Mitochondrial Complex I Deficiency, Nuclear Type 22 NDUFA10 NM_004544.4(NDUFA10):c.425A>G (p.Gln142Arg) SNV Pathogenic 30393 rs387906873 2:240960649-240960649 2:240021232-240021232 MTC168 Mitochondrial Complex I Deficiency, Nuclear Type 22 NDUFA10 NM_004544.4(NDUFA10):c.881T>C (p.Leu294Pro) SNV Pathogenic 372194 rs1057519414 2:240944636-240944636 2:240005219-240005219 MTC168 Mitochondrial Complex I Deficiency, Nuclear Type 22 NDUFA10 NM_004544.4(NDUFA10):c.384_385insAAT (p.Tyr129_Arg130insAsn) insertion Pathogenic 372195 rs1057519415 2:240960689-240960690 2:240021272-240021273 MTC168 Mitochondrial Complex I Deficiency, Nuclear Type 22 NDUFA10 NM_004544.4(NDUFA10):c.604dup (p.His202fs) duplication Uncertain significance 632354 rs746019378 2:240954220-240954221 2:240014803-240014804 MTC168 Mitochondrial Complex I Deficiency, Nuclear Type 22 NDUFA12 NM_018838.5(NDUFA12):c.253G>T (p.Glu85Ter) SNV Pathogenic 802883 12:95387950-95387950 12:94994174-94994174 MTC169 Mitochondrial Complex I Deficiency, Nuclear Type 23 NDUFA12 NM_018838.5(NDUFA12):c.178C>T (p.Arg60Ter) SNV Pathogenic 31207 rs387907139 12:95388025-95388025 12:94994249-94994249 MTC169 Mitochondrial Complex I Deficiency, Nuclear Type 23 NDUFA12 NM_018838.5(NDUFA12):c.4G>T (p.Glu2Ter) SNV Likely pathogenic 800980 12:95397453-95397453 12:95003677-95003677 MTC169 Mitochondrial Complex I Deficiency, Nuclear Type 23 NDUFB9 NM_005005.3(NDUFB9):c.191T>C (p.Leu64Pro) SNV Pathogenic 65455 rs776388520 8:125555417-125555417 8:124543176-124543176 MTC170 Mitochondrial Complex I Deficiency, Nuclear Type 24 NDUFB9 NM_014751.5(MTSS1):c.1036-28C>T SNV Benign 802438 8:125570144-125570144 8:124557903-124557903 MTC170 Mitochondrial Complex I Deficiency, Nuclear Type 24 NDUFB9 NM_014751.5(MTSS1):c.619-571G>A SNV Benign 802439 8:125579990-125579990 8:124567749-124567749 MTC170 Mitochondrial Complex I Deficiency, Nuclear Type 24 NDUFB3 NM_002491.3(NDUFB3):c.208G>T (p.Gly70Ter) SNV Pathogenic/Likely pathogenic 39836 rs200800978 2:201950249-201950249 2:201085526-201085526 MTC171 Mitochondrial Complex I Deficiency, Nuclear Type 25 NDUFB3 NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) SNV Pathogenic/Likely pathogenic 252575 rs142609245 2:201943669-201943669 2:201078946-201078946 MTC171 Mitochondrial Complex I Deficiency, Nuclear Type 25 NDUFA9 NM_005002.5(NDUFA9):c.1078C>T (p.Arg360Cys) SNV Pathogenic 587683 rs3210083 12:4796218-4796218 12:4687052-4687052 MTC172 Mitochondrial Complex I Deficiency, Nuclear Type 26 NDUFA9 NM_005002.5(NDUFA9):c.962G>C (p.Arg321Pro) SNV Pathogenic 30391 rs199592341 12:4794490-4794490 12:4685324-4685324 MTC172 Mitochondrial Complex I Deficiency, Nuclear Type 26 NDUFA9 NM_005002.5(NDUFA9):c.224G>T (p.Arg75Leu) SNV Conflicting interpretations of pathogenicity 214722 rs35263902 12:4763994-4763994 12:4654828-4654828 MTC172 Mitochondrial Complex I Deficiency, Nuclear Type 26 NDUFA9 NM_005002.5(NDUFA9):c.897-115A>G SNV Uncertain significance 802811 12:4794310-4794310 12:4685144-4685144 MTC172 Mitochondrial Complex I Deficiency, Nuclear Type 26 MTFMT NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) SNV Pathogenic 39827 rs201431517 15:65313871-65313871 15:65021533-65021533 MTC173 Mitochondrial Complex I Deficiency, Nuclear Type 27 MTFMT NM_139242.4(MTFMT):c.994C>T (p.Arg332Ter) SNV Pathogenic 39830 rs200286768 15:65295576-65295576 15:65003238-65003238 MTC173 Mitochondrial Complex I Deficiency, Nuclear Type 27 NDUFA13 NM_015965.7(NDUFA13):c.170G>A (p.Arg57His) SNV Pathogenic 132643 rs752513525 19:19637066-19637066 19:19526257-19526257 MTC174 Mitochondrial Complex I Deficiency, Nuclear Type 28 TMEM126B NM_018480.5(TMEM126B):c.401del (p.Asn134fs) deletion Pathogenic 236208 rs886037835 11:85346713-85346713 11:85635669-85635669 MTC175 Mitochondrial Complex I Deficiency, Nuclear Type 29 TMEM126B NM_001350393.1(TMEM126B):c.172+103G>A SNV Pathogenic 253166 rs573006534 11:85345323-85345323 11:85634279-85634279 MTC175 Mitochondrial Complex I Deficiency, Nuclear Type 29 TMEM126B NM_018480.5(TMEM126B):c.208C>T (p.Gln70Ter) SNV Pathogenic 253167 rs886037857 11:85345134-85345134 11:85634090-85634090 MTC175 Mitochondrial Complex I Deficiency, Nuclear Type 29 TMEM126B NM_018480.5(TMEM126B):c.635G>T (p.Gly212Val) SNV Uncertain significance 236209 rs141542003 11:85347215-85347215 11:85636171-85636171 MTC175 Mitochondrial Complex I Deficiency, Nuclear Type 29 NDUFB11 NM_019056.6(NDUFB11):c.391G>A (p.Glu131Lys) SNV Pathogenic 372149 rs1057519073 X:47001817-47001817 X:47142418-47142418 MTC148 Mitochondrial Complex I Deficiency, Nuclear Type 30 NDUFB11 NM_019056.6(NDUFB11):c.457G>A (p.Asp153Asn) SNV Uncertain significance 689468 rs374083393 X:47001751-47001751 X:47142352-47142352 MTC148 Mitochondrial Complex I Deficiency, Nuclear Type 30 TIMMDC1 NM_016589.4(TIMMDC1):c.597-1340A>G SNV Pathogenic 429020 rs781525096 3:119234712-119234712 3:119515865-119515865 MTC176 Mitochondrial Complex I Deficiency, Nuclear Type 31 TIMMDC1 NM_016589.4(TIMMDC1):c.524C>T (p.Thr175Met) SNV Likely pathogenic 807710 3:119232494-119232494 3:119513647-119513647 MTC176 Mitochondrial Complex I Deficiency, Nuclear Type 31 NDUFB8 NM_005004.4(NDUFB8):c.227C>A (p.Pro76Gln) SNV Pathogenic 548131 rs1239013578 10:102286817-102286817 10:100527060-100527060 MTC177 Mitochondrial Complex I Deficiency, Nuclear Type 32 NDUFB8 NM_005004.4(NDUFB8):c.432C>G (p.Cys144Trp) SNV Pathogenic 548132 rs1554843251 10:102286192-102286192 10:100526435-100526435 MTC177 Mitochondrial Complex I Deficiency, Nuclear Type 32 NDUFB8 NM_005004.4(NDUFB8):c.189del (p.Glu63fs) deletion Pathogenic 548133 rs1264186261 10:102289160-102289160 10:100529403-100529403 MTC177 Mitochondrial Complex I Deficiency, Nuclear Type 32 NDUFB8 NM_005004.4(NDUFB8):c.184T>C (p.Tyr62His) SNV Pathogenic 548134 rs1554843434 10:102289165-102289165 10:100529408-100529408 MTC177 Mitochondrial Complex I Deficiency, Nuclear Type 32 NDUFA6 NM_002490.6(NDUFA6):c.331_332del (p.Glu111fs) deletion Pathogenic 487475 rs1569463838 22:42482242-42482243 22:42086238-42086239 MTC178 Mitochondrial Complex I Deficiency, Nuclear Type 33 NDUFA6 NM_002490.6(NDUFA6):c.265G>T (p.Glu89Ter) SNV Pathogenic 487478 rs758833609 22:42482309-42482309 22:42086305-42086305 MTC178 Mitochondrial Complex I Deficiency, Nuclear Type 33 NDUFA6 NM_002490.6(NDUFA6):c.191G>C (p.Arg64Pro) SNV Pathogenic 487477 rs750830935 22:42483128-42483128 22:42087124-42087124 MTC178 Mitochondrial Complex I Deficiency, Nuclear Type 33 NDUFA6 NM_002490.6(NDUFA6):c.3G>A (p.Met1Ile) SNV Pathogenic 487476 rs1023075742 22:42486746-42486746 22:42090742-42090742 MTC178 Mitochondrial Complex I Deficiency, Nuclear Type 33 NDUFA6 NM_002490.6(NDUFA6):c.355del (p.Leu119fs) deletion Pathogenic 549666 rs781099275 22:42482219-42482219 22:42086215-42086215 MTC178 Mitochondrial Complex I Deficiency, Nuclear Type 33 NDUFA6 NM_002490.6(NDUFA6):c.309del (p.Met104fs) deletion Pathogenic 549665 rs763006208 22:42482265-42482265 22:42086261-42086261 MTC178 Mitochondrial Complex I Deficiency, Nuclear Type 33 NDUFAF8 NM_001086521.2(NDUFAF8):c.1A>G (p.Met1Val) SNV Pathogenic 691643 17:79213164-79213164 17:81239364-81239364 MTC203 Mitochondrial Complex I Deficiency, Nuclear Type 34 NDUFAF8 NM_001086521.2(NDUFAF8):c.45_52dup (p.Phe18fs) duplication Pathogenic 691644 17:79213202-79213203 17:81239402-81239403 MTC203 Mitochondrial Complex I Deficiency, Nuclear Type 34 NDUFAF8 NM_001086521.2(NDUFAF8):c.195+271C>T SNV Pathogenic 691642 17:79213749-79213749 17:81239949-81239949 MTC203 Mitochondrial Complex I Deficiency, Nuclear Type 34 NDUFAF8 NM_001086521.2(NDUFAF8):c.165C>G (p.Phe55Leu) SNV Likely pathogenic 691641 17:79213448-79213448 17:81239648-81239648 MTC203 Mitochondrial Complex I Deficiency, Nuclear Type 34 NDUFV1 NM_007103.4(NDUFV1):c.175C>T (p.Arg59Ter) SNV Pathogenic 14057 rs768050261 11:67376042-67376042 11:67608571-67608571 MTC153 Mitochondrial Complex I Deficiency, Nuclear Type 4 NDUFV1 NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) SNV Pathogenic/Likely pathogenic 14056 rs121913659 11:67379696-67379696 11:67612225-67612225 MTC153 Mitochondrial Complex I Deficiency, Nuclear Type 4 NDUFV1 NM_007103.4(NDUFV1):c.1162+4A>C SNV Pathogenic/Likely pathogenic 372716 rs199683937 11:67379453-67379453 11:67611982-67611982 MTC153 Mitochondrial Complex I Deficiency, Nuclear Type 4 NDUFV1 NM_007103.4(NDUFV1):c.640G>A (p.Glu214Lys) SNV Likely pathogenic 14059 rs121913661 11:67377981-67377981 11:67610510-67610510 MTC153 Mitochondrial Complex I Deficiency, Nuclear Type 4 NDUFV1 NM_007103.4(NDUFV1):c.1312C>A (p.Leu438Met) SNV Likely pathogenic 800963 11:67379846-67379846 11:67612375-67612375 MTC153 Mitochondrial Complex I Deficiency, Nuclear Type 4 NDUFV1 NM_007103.4(NDUFV1):c.670C>T (p.Arg224Cys) SNV Uncertain significance 638374 11:67378011-67378011 11:67610540-67610540 MTC153 Mitochondrial Complex I Deficiency, Nuclear Type 4 NDUFS2 NM_004550.4(NDUFS2):c.683G>A (p.Arg228Gln) SNV Pathogenic 6709 rs121434427 1:161179702-161179702 1:161209912-161209912 MTC154 Mitochondrial Complex I Deficiency, Nuclear Type 6 NDUFS2 NM_004550.4(NDUFS2):c.686C>A (p.Pro229Gln) SNV Pathogenic 6710 rs121434428 1:161179705-161179705 1:161209915-161209915 MTC154 Mitochondrial Complex I Deficiency, Nuclear Type 6 NDUFS2 NM_004550.4(NDUFS2):c.1237T>C (p.Ser413Pro) SNV Pathogenic 6711 rs121434429 1:161183463-161183463 1:161213673-161213673 MTC154 Mitochondrial Complex I Deficiency, Nuclear Type 6 NDUFS2 NM_004550.4(NDUFS2):c.968G>A (p.Arg323Gln) SNV Conflicting interpretations of pathogenicity 214787 rs35086265 1:161180482-161180482 1:161210692-161210692 MTC154 Mitochondrial Complex I Deficiency, Nuclear Type 6 NDUFS2 NM_004550.4(NDUFS2):c.1138C>G (p.His380Asp) SNV Uncertain significance 214795 rs144411579 1:161183191-161183191 1:161213401-161213401 MTC154 Mitochondrial Complex I Deficiency, Nuclear Type 6 NDUFS2 NM_004550.4(NDUFS2):c.934G>C (p.Asp312His) SNV Uncertain significance 638369 1:161180448-161180448 1:161210658-161210658 MTC154 Mitochondrial Complex I Deficiency, Nuclear Type 6 NDUFS2 NM_004550.4(NDUFS2):c.58C>A (p.Pro20Thr) SNV Benign 293269 rs11538340 1:161172233-161172233 1:161202443-161202443 MTC154 Mitochondrial Complex I Deficiency, Nuclear Type 6 NDUFV2 NM_021074.5(NDUFV2):c.669_670insG (p.Ser224fs) insertion Pathogenic 617494 rs772188600 18:9134196-9134197 18:9134198-9134199 MTC155 Mitochondrial Complex I Deficiency, Nuclear Type 7 NDUFV2 NM_021074.5(NDUFV2):c.120+5_120+8del short repeat Pathogenic 279920 rs752670374 18:9117902-9117905 18:9117904-9117907 MTC155 Mitochondrial Complex I Deficiency, Nuclear Type 7 NDUFV2 NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala) SNV Benign 9054 rs906807 18:9117867-9117867 18:9117869-9117869 MTC155 Mitochondrial Complex I Deficiency, Nuclear Type 7 NDUFV2 NM_021074.5(NDUFV2):c.201A>T (p.Val67=) SNV Benign 129703 rs41274300 18:9119489-9119489 18:9119491-9119491 MTC155 Mitochondrial Complex I Deficiency, Nuclear Type 7 NDUFS3 NM_004551.3(NDUFS3):c.434C>T (p.Thr145Ile) SNV Likely pathogenic 6019 rs28939714 11:47603692-47603692 11:47582140-47582140 MTC156 Mitochondrial Complex I Deficiency, Nuclear Type 8 NDUFS3 NM_004551.3(NDUFS3):c.595C>T (p.Arg199Trp) SNV Likely pathogenic 6020 rs104894270 11:47603988-47603988 11:47582436-47582436 MTC156 Mitochondrial Complex I Deficiency, Nuclear Type 8 NDUFS3 NM_004551.3(NDUFS3):c.591T>C (p.Pro197=) SNV Conflicting interpretations of pathogenicity 138490 rs77113494 11:47603984-47603984 11:47582432-47582432 MTC156 Mitochondrial Complex I Deficiency, Nuclear Type 8 NDUFS3 NM_004551.3(NDUFS3):c.418C>T (p.Arg140Trp) SNV Uncertain significance 638291 11:47603676-47603676 11:47582124-47582124 MTC156 Mitochondrial Complex I Deficiency, Nuclear Type 8 NDUFS6 NM_004553.5(NDUFS6):c.186+2T>A SNV Pathogenic 6016 rs1561102614 5:1802490-1802490 5:1802376-1802376 MTC157 Mitochondrial Complex I Deficiency, Nuclear Type 9 NDUFS6 nsv1197507 deletion Pathogenic 6017 5:1812548-1816722 5:1812434-1816608 MTC157 Mitochondrial Complex I Deficiency, Nuclear Type 9 NDUFS6 NM_004553.5(NDUFS6):c.344G>A (p.Cys115Tyr) SNV Pathogenic 6018 rs267606913 5:1815999-1815999 5:1815885-1815885 MTC157 Mitochondrial Complex I Deficiency, Nuclear Type 9 NDUFS6 NM_004553.6(NDUFS6):c.80G>A (p.Cys27Tyr) SNV Likely pathogenic 800912 5:1801611-1801611 5:1801497-1801497 MTC157 Mitochondrial Complex I Deficiency, Nuclear Type 9 NDUFS6 NM_004553.4(NDUFS6):c.-12C>T SNV Conflicting interpretations of pathogenicity 138493 rs145747389 5:1801520-1801520 5:1801406-1801406 MTC157 Mitochondrial Complex I Deficiency, Nuclear Type 9 NDUFS6 NM_004553.5(NDUFS6):c.309+208T>C SNV Benign 683115 5:1814783-1814783 5:1814669-1814669 MTC157 Mitochondrial Complex I Deficiency, Nuclear Type 9 SDHA NM_004168.4(SDHA):c.762_770+17del deletion Pathogenic 412346 rs1041809852 5:228439-228464 5:228324-228349 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1615dup (p.Ile539fs) duplication Pathogenic 412366 rs1554001843 5:251166-251167 5:251051-251052 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.985C>T (p.Arg329Ter) SNV Pathogenic 412328 rs771328239 5:233681-233681 5:233566-233566 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.2T>G (p.Met1Arg) SNV Pathogenic 422382 rs750380279 5:218472-218472 5:218357-218357 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1526_1527delinsGA (p.Ser509Ter) indel Pathogenic 418987 rs1064793567 5:240566-240567 5:240451-240452 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.688del (p.Glu230fs) deletion Pathogenic 472291 rs1553998199 5:228363-228363 5:228248-228248 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter) SNV Pathogenic 472288 rs1554000360 5:240508-240508 5:240393-240393 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer) deletion Pathogenic 472290 rs1553997617 5:225598-225598 5:225483-225483 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.553C>T (p.Gln185Ter) SNV Pathogenic 480771 rs775827529 5:226094-226094 5:225979-225979 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1629T>G (p.Tyr543Ter) SNV Pathogenic 539643 rs747249998 5:251184-251184 5:251069-251069 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.722_726del (p.Asp241fs) deletion Pathogenic 539664 rs1553998229 5:228398-228402 5:228283-228287 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.628C>T (p.Arg210Ter) SNV Pathogenic 539663 rs775143272 5:228306-228306 5:228191-228191 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1547dup (p.Lys517fs) duplication Pathogenic 539642 rs1554000378 5:240586-240587 5:240471-240472 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.995_996del (p.Pro332fs) deletion Pathogenic 575469 rs1560994766 5:233691-233692 5:233576-233577 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.46_52dup (p.Leu18fs) duplication Pathogenic 574154 rs1560980939 5:218510-218511 5:218395-218396 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.253_256dup (p.Asn86delinsIleTer) duplication Pathogenic 576450 rs1560986132 5:224576-224577 5:224461-224462 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.880C>T (p.Gln294Ter) SNV Pathogenic 582775 rs1560992565 5:231100-231100 5:230985-230985 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.644_645del (p.Tyr215fs) deletion Pathogenic 569511 rs1560989804 5:228321-228322 5:228206-228207 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.5C>A (p.Ser2Ter) SNV Pathogenic 644096 5:218475-218475 5:218360-218360 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.28del (p.Leu10fs) deletion Pathogenic 654714 5:218498-218498 5:218383-218383 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.508C>T (p.Gln170Ter) SNV Pathogenic 665061 5:226049-226049 5:225934-225934 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.619_620delinsC (p.Ser208fs) indel Pathogenic 660785 5:226160-226161 5:226045-226046 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.942_945delinsTCC (p.Glu314fs) indel Pathogenic 657145 5:233638-233641 5:233523-233526 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1258C>T (p.Gln420Ter) SNV Pathogenic 639589 5:235452-235452 5:235337-235337 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1579del (p.Arg527fs) deletion Pathogenic 653810 5:251133-251133 5:251018-251018 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.468T>G (p.Tyr156Ter) SNV Pathogenic 857526 5:226009-226009 5:225894-225894 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.181G>T (p.Glu61Ter) SNV Pathogenic 836392 5:224505-224505 5:224390-224390 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.83dup (p.Gly29fs) duplication Pathogenic 836479 5:223615-223616 5:223500-223501 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1123C>T (p.Gln375Ter) SNV Pathogenic 857818 5:235317-235317 5:235202-235202 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1656del (p.Phe552fs) deletion Pathogenic 839974 5:251211-251211 5:251096-251096 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1397dup (p.Cys467fs) duplication Pathogenic 855920 5:236678-236679 5:236563-236564 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.64-2A>G SNV Pathogenic 835516 5:223595-223595 5:223480-223480 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.356G>A (p.Trp119Ter) SNV Pathogenic 856810 5:225577-225577 5:225462-225462 MTC020 Mitochondrial Complex Ii Deficiency SDHAF1 NM_001042631.2(SDHAF1):c.169G>C (p.Gly57Arg) SNV Pathogenic 429 rs137853192 19:36486345-36486345 19:35995443-35995443 MTC020 Mitochondrial Complex Ii Deficiency SDHAF1 NM_001042631.2(SDHAF1):c.164G>C (p.Arg55Pro) SNV Pathogenic 430 rs137853193 19:36486340-36486340 19:35995438-35995438 MTC020 Mitochondrial Complex Ii Deficiency SDHD NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) SNV Pathogenic 6896 rs80338844 11:111959663-111959663 11:112088939-112088939 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1A>C (p.Met1Leu) SNV Pathogenic 8744 rs1061517 5:218471-218471 5:218356-218356 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1664G>A (p.Gly555Glu) SNV Pathogenic 8745 rs137852768 5:251453-251453 5:251338-251338 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.667del (p.Asp223fs) deletion Pathogenic 141876 rs587782077 5:228344-228344 5:228229-228229 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.223C>T (p.Arg75Ter) SNV Pathogenic 209127 rs781764920 5:224547-224547 5:224432-224432 MTC020 Mitochondrial Complex Ii Deficiency SDHD NM_003002.4(SDHD):c.275A>G (p.Asp92Gly) SNV Pathogenic 180590 rs786205436 11:111959696-111959696 11:112088972-112088972 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.615T>A (p.Tyr205Ter) SNV Pathogenic 230290 rs876658486 5:226156-226156 5:226041-226041 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1151C>G (p.Ser384Ter) SNV Pathogenic 230877 rs151170408 5:235345-235345 5:235230-235230 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.457-2_457del deletion Pathogenic 239672 rs878854632 5:225995-225997 5:225880-225882 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1054C>T (p.Arg352Ter) SNV Pathogenic 239634 rs746165168 5:233750-233750 5:233635-233635 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1432_1432+1del deletion Pathogenic/Likely pathogenic 239647 rs878854627 5:236714-236715 5:236599-236600 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1A>G (p.Met1Val) SNV Pathogenic/Likely pathogenic 239661 rs1061517 5:218471-218471 5:218356-218356 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1663+1G>T SNV Pathogenic/Likely pathogenic 231173 rs766667009 5:251219-251219 5:251104-251104 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp) SNV Pathogenic/Likely pathogenic 30132 rs387906780 5:251554-251554 5:251439-251439 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1A>T (p.Met1Leu) SNV Pathogenic/Likely pathogenic 371794 rs1061517 5:218471-218471 5:218356-218356 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter) SNV Pathogenic/Likely pathogenic 371805 rs748089700 5:240574-240574 5:240459-240459 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1795-1G>T SNV Pathogenic/Likely pathogenic 691997 5:254507-254507 5:254392-254392 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.171dup (p.Val58fs) duplication Pathogenic/Likely pathogenic 545901 rs1553997323 5:224494-224495 5:224379-224380 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1del (p.Met1fs) deletion Pathogenic/Likely pathogenic 426781 rs1085307796 5:218471-218471 5:218356-218356 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.2T>C (p.Met1Thr) SNV Pathogenic/Likely pathogenic 412398 rs750380279 5:218472-218472 5:218357-218357 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.778G>A (p.Gly260Arg) SNV Likely pathogenic 412357 rs940845256 5:230998-230998 5:230883-230883 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1064+2T>A SNV Likely pathogenic 472287 rs1553999072 5:233762-233762 5:233647-233647 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.2T>A (p.Met1Lys) SNV Likely pathogenic 582115 rs750380279 5:218472-218472 5:218357-218357 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.622-1G>A SNV Likely pathogenic 539651 rs1285132774 5:228299-228299 5:228184-228184 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1984C>T (p.Arg662Cys) SNV Likely pathogenic 694327 5:256524-256524 5:256409-256409 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1260+1G>A SNV Likely pathogenic 848656 5:235455-235455 5:235340-235340 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.621+1G>A SNV Likely pathogenic 847345 5:226163-226163 5:226048-226048 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1260+2T>A SNV Likely pathogenic 851140 5:235456-235456 5:235341-235341 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1551+1G>A SNV Likely pathogenic 839910 5:240592-240592 5:240477-240477 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.63+2del deletion Likely pathogenic 654216 5:218535-218535 5:218420-218420 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1064+1G>T SNV Likely pathogenic 651626 5:233761-233761 5:233646-233646 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1261-2A>G SNV Likely pathogenic 664402 5:236541-236541 5:236426-236426 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1794+1G>A SNV Likely pathogenic 232169 rs876659595 5:251584-251584 5:251469-251469 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1432+1G>C SNV Likely pathogenic 239648 rs878854628 5:236715-236715 5:236600-236600 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln) SNV Conflicting interpretations of pathogenicity 239655 rs376391115 5:251216-251216 5:251101-251101 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1751C>T (p.Ala584Val) SNV Conflicting interpretations of pathogenicity 239657 rs201068049 5:251540-251540 5:251425-251425 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1002G>A (p.Ala334=) SNV Conflicting interpretations of pathogenicity 252904 rs144252500 5:233698-233698 5:233583-233583 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1623G>A (p.Lys541=) SNV Conflicting interpretations of pathogenicity 252905 rs35502109 5:251178-251178 5:251063-251063 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly) SNV Conflicting interpretations of pathogenicity 252908 rs372480044 5:256459-256459 5:256344-256344 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.549C>T (p.Gly183=) SNV Conflicting interpretations of pathogenicity 252909 rs61733344 5:226090-226090 5:225975-225975 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1064+4C>T SNV Conflicting interpretations of pathogenicity 239635 rs768276870 5:233764-233764 5:233649-233649 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.777C>T (p.Tyr259=) SNV Conflicting interpretations of pathogenicity 239683 rs140243793 5:230997-230997 5:230882-230882 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu) SNV Conflicting interpretations of pathogenicity 231183 rs377632619 5:256513-256513 5:256398-256398 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1413C>T (p.Ile471=) SNV Conflicting interpretations of pathogenicity 224956 rs34779890 5:236695-236695 5:236580-236580 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.441C>T (p.Pro147=) SNV Conflicting interpretations of pathogenicity 239664 rs201453889 5:225662-225662 5:225547-225547 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.442G>A (p.Ala148Thr) SNV Conflicting interpretations of pathogenicity 239668 rs375576259 5:225663-225663 5:225548-225548 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.456+6G>T SNV Conflicting interpretations of pathogenicity 239671 rs371735891 5:225683-225683 5:225568-225568 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.622-8T>C SNV Conflicting interpretations of pathogenicity 239678 rs370714378 5:228292-228292 5:228177-228177 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.622-5T>C SNV Conflicting interpretations of pathogenicity 239677 rs878854634 5:228295-228295 5:228180-228180 MTC020 Mitochondrial Complex Ii Deficiency SDHAF1 NM_001042631.2(SDHAF1):c.334C>T (p.Pro112Ser) SNV Conflicting interpretations of pathogenicity 139090 rs78119534 19:36486510-36486510 19:35995608-35995608 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.969C>T (p.Gly323=) SNV Conflicting interpretations of pathogenicity 141242 rs142849100 5:233665-233665 5:233550-233550 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.818C>T (p.Thr273Ile) SNV Conflicting interpretations of pathogenicity 141401 rs587781720 5:231038-231038 5:230923-230923 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) SNV Conflicting interpretations of pathogenicity 142601 rs142441643 5:223624-223624 5:223509-223509 MTC020 Mitochondrial Complex Ii Deficiency SDHD NM_003002.4(SDHD):c.205G>A (p.Glu69Lys) SNV Conflicting interpretations of pathogenicity 156153 rs202198133 11:111959626-111959626 11:112088902-112088902 MTC020 Mitochondrial Complex Ii Deficiency SDHD NM_003002.4(SDHD):c.479G>T (p.Ter160Leu) SNV Conflicting interpretations of pathogenicity 156154 rs201372601 11:111965693-111965693 11:112094969-112094969 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) SNV Conflicting interpretations of pathogenicity 160358 rs200397144 5:251542-251542 5:251427-251427 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.830C>T (p.Thr277Met) SNV Conflicting interpretations of pathogenicity 222817 rs367721665 5:231050-231050 5:230935-230935 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.133G>A (p.Ala45Thr) SNV Conflicting interpretations of pathogenicity 224947 rs140736646 5:223666-223666 5:223551-223551 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1368G>A (p.Ser456=) SNV Conflicting interpretations of pathogenicity 224948 rs149875171 5:236650-236650 5:236535-236535 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.136A>G (p.Lys46Glu) SNV Conflicting interpretations of pathogenicity 224951 rs144599870 5:223669-223669 5:223554-223554 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.17G>A (p.Gly6Asp) SNV Conflicting interpretations of pathogenicity 224952 rs187964306 5:218487-218487 5:218372-218372 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.822C>T (p.Gly274=) SNV Conflicting interpretations of pathogenicity 224953 rs34771391 5:231042-231042 5:230927-230927 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1305G>T (p.Leu435=) SNV Conflicting interpretations of pathogenicity 224954 rs35964044 5:236587-236587 5:236472-236472 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp) SNV Conflicting interpretations of pathogenicity 8742 rs9809219 5:251215-251215 5:251100-251100 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1571C>T (p.Ala524Val) SNV Conflicting interpretations of pathogenicity 8743 rs137852767 5:251126-251126 5:251011-251011 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.*249T>C SNV Conflicting interpretations of pathogenicity 905347 5:256784-256784 5:256669-256669 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.150+1G>A SNV Conflicting interpretations of pathogenicity 388610 rs1057523165 5:223684-223684 5:223569-223569 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln) SNV Conflicting interpretations of pathogenicity 371975 rs199844384 5:233751-233751 5:233636-233636 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.-1C>T SNV Conflicting interpretations of pathogenicity 353200 rs560932680 5:218470-218470 5:218355-218355 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1580G>A (p.Arg527His) SNV Conflicting interpretations of pathogenicity 353205 rs766352407 5:251135-251135 5:251020-251020 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.*133G>C SNV Conflicting interpretations of pathogenicity 353208 rs193112615 5:256668-256668 5:256553-256553 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.-7A>C SNV Conflicting interpretations of pathogenicity 371942 rs751633537 5:218464-218464 5:218349-218349 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.991G>A (p.Ala331Thr) SNV Conflicting interpretations of pathogenicity 252912 rs200526913 5:233687-233687 5:233572-233572 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly) SNV Conflicting interpretations of pathogenicity 239660 rs191412461 5:256519-256519 5:256404-256404 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.723C>T (p.Asp241=) SNV Conflicting interpretations of pathogenicity 353203 rs146653693 5:228401-228401 5:228286-228286 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1909-12_1909-11del short repeat Conflicting interpretations of pathogenicity 353206 rs372662724 5:256435-256436 5:256320-256321 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.456+9C>T SNV Conflicting interpretations of pathogenicity 385656 rs200565489 5:225686-225686 5:225571-225571 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.895+13G>A SNV Conflicting interpretations of pathogenicity 390626 rs201461936 5:231128-231128 5:231013-231013 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1414G>A (p.Glu472Lys) SNV Conflicting interpretations of pathogenicity 371838 rs143798161 5:236696-236696 5:236581-236581 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1526C>G (p.Ser509Trp) SNV Conflicting interpretations of pathogenicity 809726 5:240566-240566 5:240451-240451 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1177G>A (p.Val393Met) SNV Conflicting interpretations of pathogenicity 818500 5:235371-235371 5:235256-235256 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.630A>G (p.Arg210=) SNV Conflicting interpretations of pathogenicity 826314 5:228308-228308 5:228193-228193 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.51G>A (p.Ala17=) SNV Conflicting interpretations of pathogenicity 698546 5:218521-218521 5:218406-218406 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1394G>A (p.Arg465Gln) SNV Conflicting interpretations of pathogenicity 698244 5:236676-236676 5:236561-236561 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1977A>G (p.Pro659=) SNV Conflicting interpretations of pathogenicity 715129 5:256517-256517 5:256402-256402 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1781G>A (p.Arg594Lys) SNV Conflicting interpretations of pathogenicity 649093 5:251570-251570 5:251455-251455 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1261-5delinsGAAA indel Conflicting interpretations of pathogenicity 539666 rs1553999701 5:236538-236538 5:236423-236423 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.18C>T (p.Gly6=) SNV Conflicting interpretations of pathogenicity 578716 rs775847689 5:218488-218488 5:218373-218373 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1335G>A (p.Ser445=) SNV Conflicting interpretations of pathogenicity 580330 rs200223188 5:236617-236617 5:236502-236502 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1885dup (p.Tyr629fs) duplication Conflicting interpretations of pathogenicity 472365 rs750865703 5:254597-254598 5:254482-254483 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1188G>A (p.Thr396=) SNV Conflicting interpretations of pathogenicity 472306 rs778667374 5:235382-235382 5:235267-235267 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1664-4C>G SNV Conflicting interpretations of pathogenicity 472348 rs774876028 5:251449-251449 5:251334-251334 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1894G>A (p.Val632Ile) SNV Conflicting interpretations of pathogenicity 472367 rs369639811 5:254607-254607 5:254492-254492 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1133C>T (p.Thr378Met) SNV Conflicting interpretations of pathogenicity 539641 rs777420907 5:235327-235327 5:235212-235212 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1340A>G (p.His447Arg) SNV Conflicting interpretations of pathogenicity 539657 rs779151375 5:236622-236622 5:236507-236507 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.471C>T (p.Gly157=) SNV Conflicting interpretations of pathogenicity 539674 rs1553997722 5:226012-226012 5:225897-225897 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.558C>T (p.Ala186=) SNV Conflicting interpretations of pathogenicity 539705 rs199618059 5:226099-226099 5:225984-225984 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1281C>T (p.Gly427=) SNV Conflicting interpretations of pathogenicity 480849 rs561918468 5:236563-236563 5:236448-236448 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1551+4A>G SNV Conflicting interpretations of pathogenicity 509978 rs928294715 5:240595-240595 5:240480-240480 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1909-2A>G SNV Conflicting interpretations of pathogenicity 480769 rs747939816 5:256447-256447 5:256332-256332 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.775del (p.Tyr259fs) deletion Conflicting interpretations of pathogenicity 486395 rs1553998606 5:230995-230995 5:230880-230880 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.-2A>T SNV Conflicting interpretations of pathogenicity 486359 rs763680697 5:218469-218469 5:218354-218354 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1014G>A (p.Ala338=) SNV Conflicting interpretations of pathogenicity 417246 rs201341132 5:233710-233710 5:233595-233595 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.480T>G (p.Phe160Leu) SNV Conflicting interpretations of pathogenicity 412358 rs1060503711 5:226021-226021 5:225906-225906 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1527G>A (p.Ser509=) SNV Conflicting interpretations of pathogenicity 417252 rs746453879 5:240567-240567 5:240452-240452 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1590C>T (p.Ser530=) SNV Conflicting interpretations of pathogenicity 412327 rs1060503701 5:251145-251145 5:251030-251030 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.563G>A (p.Arg188Gln) SNV Conflicting interpretations of pathogenicity 450839 rs139881415 5:226104-226104 5:225989-225989 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1351C>T (p.Arg451Cys) SNV Conflicting interpretations of pathogenicity 449389 rs1553999752 5:236633-236633 5:236518-236518 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1725G>A (p.Ala575=) SNV Conflicting interpretations of pathogenicity 417229 rs758252610 5:251514-251514 5:251399-251399 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.5C>T (p.Ser2Leu) SNV Conflicting interpretations of pathogenicity 412386 rs780064103 5:218475-218475 5:218360-218360 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.453C>A (p.Val151=) SNV Conflicting interpretations of pathogenicity 412391 rs138917116 5:225674-225674 5:225559-225559 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter) SNV Conflicting interpretations of pathogenicity 472289 rs778207102 5:240511-240511 5:240396-240396 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.150C>T (p.Ser50=) SNV Conflicting interpretations of pathogenicity 472337 rs140264486 5:223683-223683 5:223568-223568 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.242C>T (p.Ser81Phe) SNV Uncertain significance 472380 rs1553997357 5:224566-224566 5:224451-224451 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.728C>T (p.Ser243Phe) SNV Uncertain significance 472401 rs756966025 5:228406-228406 5:228291-228291 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.828C>T (p.Gly276=) SNV Uncertain significance 472407 rs754910183 5:231048-231048 5:230933-230933 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.955A>G (p.Ile319Val) SNV Uncertain significance 472419 rs377509915 5:233651-233651 5:233536-233536 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1603G>T (p.Gly535Cys) SNV Uncertain significance 472344 rs777622021 5:251158-251158 5:251043-251043 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1652C>T (p.Thr551Met) SNV Uncertain significance 412397 rs181238392 5:251207-251207 5:251092-251092 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.584G>A (p.Arg195Gln) SNV Uncertain significance 472396 rs762956849 5:226125-226125 5:226010-226010 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1696C>G (p.Leu566Val) SNV Uncertain significance 472350 rs142936520 5:251485-251485 5:251370-251370 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1863C>G (p.His621Gln) SNV Uncertain significance 472363 rs1554002478 5:254576-254576 5:254461-254461 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1873C>T (p.His625Tyr) SNV Uncertain significance 472364 rs1554002483 5:254586-254586 5:254471-254471 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.706G>A (p.Ala236Thr) SNV Uncertain significance 472399 rs774160524 5:228384-228384 5:228269-228269 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.753C>G (p.Asn251Lys) SNV Uncertain significance 472402 rs1126411 5:228431-228431 5:228316-228316 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.792C>G (p.Phe264Leu) SNV Uncertain significance 472403 rs1237513803 5:231012-231012 5:230897-230897 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.823G>A (p.Asp275Asn) SNV Uncertain significance 472405 rs1553998629 5:231043-231043 5:230928-230928 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.844A>G (p.Arg282Gly) SNV Uncertain significance 472410 rs1553998658 5:231064-231064 5:230949-230949 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.61G>A (p.Ala21Thr) SNV Uncertain significance 472397 rs1553996375 5:218531-218531 5:218416-218416 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.188A>T (p.Asp63Val) SNV Uncertain significance 472366 rs1553997327 5:224512-224512 5:224397-224397 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.373G>A (p.Asp125Asn) SNV Uncertain significance 472384 rs780654623 5:225594-225594 5:225479-225479 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.411T>A (p.Asp137Glu) SNV Uncertain significance 472387 rs1444399160 5:225632-225632 5:225517-225517 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.454G>A (p.Glu152Lys) SNV Uncertain significance 472390 rs778737664 5:225675-225675 5:225560-225560 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1090G>C (p.Val364Leu) SNV Uncertain significance 472300 rs372738835 5:235284-235284 5:235169-235169 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1229T>C (p.Met410Thr) SNV Uncertain significance 472310 rs1553999505 5:235423-235423 5:235308-235308 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1273G>T (p.Val425Leu) SNV Uncertain significance 472317 rs201822097 5:236555-236555 5:236440-236440 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1361C>A (p.Ala454Glu) SNV Uncertain significance 472325 rs1553999766 5:236643-236643 5:236528-236528 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.607A>G (p.Thr203Ala) SNV Uncertain significance 412349 rs373340696 5:226148-226148 5:226033-226033 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.666G>T (p.Leu222Phe) SNV Uncertain significance 412347 rs778256616 5:228344-228344 5:228229-228229 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.313-7T>C SNV Uncertain significance 412350 rs201972549 5:225527-225527 5:225412-225412 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.313-5T>G SNV Uncertain significance 412336 rs1060503705 5:225529-225529 5:225414-225414 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.428C>T (p.Thr143Met) SNV Uncertain significance 412367 rs200675907 5:225649-225649 5:225534-225534 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.446C>T (p.Ala149Val) SNV Uncertain significance 412353 rs1060503709 5:225667-225667 5:225552-225552 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.13C>T (p.Arg5Trp) SNV Uncertain significance 412384 rs770866830 5:218483-218483 5:218368-218368 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.150+6T>G SNV Uncertain significance 412324 rs1060503699 5:223689-223689 5:223574-223574 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1766G>A (p.Arg589Gln) SNV Uncertain significance 412342 rs763766162 5:251555-251555 5:251440-251440 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1789T>C (p.Tyr597His) SNV Uncertain significance 412379 rs1060503721 5:251578-251578 5:251463-251463 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.685G>A (p.Gly229Arg) SNV Uncertain significance 441034 rs41495051 5:228363-228363 5:228248-228248 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1354C>T (p.Leu452Phe) SNV Uncertain significance 423532 rs1064796477 5:236636-236636 5:236521-236521 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1900A>G (p.Thr634Ala) SNV Uncertain significance 412383 rs1017441235 5:254613-254613 5:254498-254498 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1928C>G (p.Pro643Arg) SNV Uncertain significance 412372 rs1060503717 5:256468-256468 5:256353-256353 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.812C>G (p.Thr271Ser) SNV Uncertain significance 412341 rs765611464 5:231032-231032 5:230917-230917 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1090G>A (p.Val364Ile) SNV Uncertain significance 412322 rs372738835 5:235284-235284 5:235169-235169 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1292T>C (p.Ile431Thr) SNV Uncertain significance 412375 rs776188923 5:236574-236574 5:236459-236459 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1462G>A (p.Ala488Thr) SNV Uncertain significance 412393 rs369100772 5:240502-240502 5:240387-240387 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1579C>T (p.Arg527Cys) SNV Uncertain significance 412340 rs138723511 5:251134-251134 5:251019-251019 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1585G>C (p.Gly529Arg) SNV Uncertain significance 412331 rs370291114 5:251140-251140 5:251025-251025 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1429C>T (p.Pro477Ser) SNV Uncertain significance 412339 rs770506764 5:236711-236711 5:236596-236596 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1514G>A (p.Ser505Asn) SNV Uncertain significance 412382 rs1060503722 5:240554-240554 5:240439-240439 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1260+4A>G SNV Uncertain significance 412330 rs1060503702 5:235458-235458 5:235343-235343 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1277A>G (p.Asn426Ser) SNV Uncertain significance 412395 rs1060503725 5:236559-236559 5:236444-236444 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.997G>C (p.Val333Leu) SNV Uncertain significance 412337 rs1062468 5:233693-233693 5:233578-233578 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1108C>A (p.His370Asn) SNV Uncertain significance 412334 rs1060503704 5:235302-235302 5:235187-235187 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1930G>A (p.Val644Met) SNV Uncertain significance 412359 rs3211483 5:256470-256470 5:256355-256355 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.371A>G (p.Tyr124Cys) SNV Uncertain significance 412323 rs935241830 5:225592-225592 5:225477-225477 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1658A>C (p.Asp553Ala) SNV Uncertain significance 412388 rs1060503723 5:251213-251213 5:251098-251098 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1724C>T (p.Ala575Val) SNV Uncertain significance 412376 rs750327309 5:251513-251513 5:251398-251398 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1771G>A (p.Ala591Thr) SNV Uncertain significance 412370 rs1042170 5:251560-251560 5:251445-251445 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1522A>T (p.Thr508Ser) SNV Uncertain significance 412374 rs1060503718 5:240562-240562 5:240447-240447 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.996_997inv (p.Val333Ile) inversion Uncertain significance 412369 5:233692-233693 5:233577-233578 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1272C>G (p.His424Gln) SNV Uncertain significance 412380 rs754805626 5:236554-236554 5:236439-236439 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1456C>A (p.Pro486Thr) SNV Uncertain significance 412344 rs1060503706 5:240496-240496 5:240381-240381 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1597C>G (p.Gln533Glu) SNV Uncertain significance 412373 rs149367009 5:251152-251152 5:251037-251037 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.419A>G (p.His140Arg) SNV Uncertain significance 412385 rs759266253 5:225640-225640 5:225525-225525 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.437C>T (p.Ala146Val) SNV Uncertain significance 412365 rs1060503714 5:225658-225658 5:225543-225543 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.466T>G (p.Tyr156Asp) SNV Uncertain significance 412335 rs569384870 5:226007-226007 5:225892-225892 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.613T>C (p.Tyr205His) SNV Uncertain significance 412329 rs61754481 5:226154-226154 5:226039-226039 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.707C>T (p.Ala236Val) SNV Uncertain significance 412333 rs1060503703 5:228385-228385 5:228270-228270 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.800C>T (p.Thr267Met) SNV Uncertain significance 412394 rs777167108 5:231020-231020 5:230905-230905 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.901T>C (p.Tyr301His) SNV Uncertain significance 412363 rs1060503713 5:233597-233597 5:233482-233482 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.955A>C (p.Ile319Leu) SNV Uncertain significance 412364 rs377509915 5:233651-233651 5:233536-233536 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1042A>T (p.Thr348Ser) SNV Uncertain significance 412360 rs371484111 5:233738-233738 5:233623-233623 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1064+5G>C SNV Uncertain significance 412345 rs200021115 5:233765-233765 5:233650-233650 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.733C>G (p.His245Asp) SNV Uncertain significance 412368 rs1060503716 5:228411-228411 5:228296-228296 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.749A>G (p.Lys250Arg) SNV Uncertain significance 412325 rs1060503700 5:228427-228427 5:228312-228312 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.826G>A (p.Gly276Ser) SNV Uncertain significance 412356 rs751008647 5:231046-231046 5:230931-230931 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.835A>G (p.Met279Val) SNV Uncertain significance 412355 rs755913710 5:231055-231055 5:230940-230940 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.914G>A (p.Cys305Tyr) SNV Uncertain significance 412387 rs878854638 5:233610-233610 5:233495-233495 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.44G>C (p.Arg15Pro) SNV Uncertain significance 412348 rs1060503707 5:218514-218514 5:218399-218399 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.169G>T (p.Val57Leu) SNV Uncertain significance 412390 rs1060503724 5:224493-224493 5:224378-224378 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.319A>G (p.Ile107Val) SNV Uncertain significance 412378 rs1060503720 5:225540-225540 5:225425-225425 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.334G>A (p.Gly112Arg) SNV Uncertain significance 412371 rs751114575 5:225555-225555 5:225440-225440 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.424A>G (p.Met142Val) SNV Uncertain significance 412352 rs776848209 5:225645-225645 5:225530-225530 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1115C>G (p.Pro372Arg) SNV Uncertain significance 412361 rs141493530 5:235309-235309 5:235194-235194 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1136G>A (p.Arg379His) SNV Uncertain significance 412343 rs770719847 5:235330-235330 5:235215-235215 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1942A>C (p.Thr648Pro) SNV Uncertain significance 412389 rs758054627 5:256482-256482 5:256367-256367 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1988C>T (p.Ser663Phe) SNV Uncertain significance 412377 rs1060503719 5:256528-256528 5:256413-256413 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.313-8G>A SNV Uncertain significance 412354 rs1060503710 5:225526-225526 5:225411-225411 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.323A>G (p.Asn108Ser) SNV Uncertain significance 412326 rs758086385 5:225544-225544 5:225429-225429 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.379G>A (p.Val127Met) SNV Uncertain significance 412332 rs777600956 5:225600-225600 5:225485-225485 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.496G>A (p.Gly166Arg) SNV Uncertain significance 412362 rs1060503712 5:226037-226037 5:225922-225922 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.638C>A (p.Thr213Asn) SNV Uncertain significance 412338 rs766421069 5:228316-228316 5:228201-228201 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.695G>A (p.Arg232His) SNV Uncertain significance 412351 rs1060503708 5:228373-228373 5:228258-228258 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.715A>G (p.Ile239Val) SNV Uncertain significance 412381 rs760106352 5:228393-228393 5:228278-228278 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.757G>A (p.Val253Ile) SNV Uncertain significance 412396 rs1126412 5:228435-228435 5:228320-228320 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.641G>A (p.Ser214Asn) SNV Uncertain significance 486389 rs755432673 5:228319-228319 5:228204-228204 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1300G>A (p.Gly434Ser) SNV Uncertain significance 472319 rs529198317 5:236582-236582 5:236467-236467 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1357G>A (p.Gly453Arg) SNV Uncertain significance 472324 rs770028533 5:236639-236639 5:236524-236524 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1450A>G (p.Ile484Val) SNV Uncertain significance 472333 rs1224049828 5:240490-240490 5:240375-240375 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1616T>G (p.Ile539Ser) SNV Uncertain significance 472346 rs749219128 5:251171-251171 5:251056-251056 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1702C>G (p.Leu568Val) SNV Uncertain significance 472351 rs1554001912 5:251491-251491 5:251376-251376 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1769del (p.Gly590fs) deletion Uncertain significance 472353 rs1554001958 5:251555-251555 5:251440-251440 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1770C>T (p.Gly590=) SNV Uncertain significance 472354 rs142457602 5:251559-251559 5:251444-251444 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1772C>T (p.Ala591Val) SNV Uncertain significance 472355 rs367621815 5:251561-251561 5:251446-251446 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.448G>A (p.Val150Met) SNV Uncertain significance 486371 rs542980860 5:225669-225669 5:225554-225554 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.461A>G (p.Glu154Gly) SNV Uncertain significance 486403 rs777873911 5:226002-226002 5:225887-225887 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1187C>T (p.Thr396Met) SNV Uncertain significance 486387 rs757251714 5:235381-235381 5:235266-235266 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1943C>G (p.Thr648Ser) SNV Uncertain significance 472377 rs1420345359 5:256483-256483 5:256368-256368 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.391G>A (p.Asp131Asn) SNV Uncertain significance 480780 rs1324014370 5:225612-225612 5:225497-225497 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.445G>A (p.Ala149Thr) SNV Uncertain significance 486367 rs575617625 5:225666-225666 5:225551-225551 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1042A>G (p.Thr348Ala) SNV Uncertain significance 486357 rs371484111 5:233738-233738 5:233623-233623 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.340A>G (p.Met114Val) SNV Uncertain significance 539638 rs933414586 5:225561-225561 5:225446-225446 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1955C>T (p.Ala652Val) SNV Uncertain significance 486392 rs1554002888 5:256495-256495 5:256380-256380 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1216G>A (p.Val406Met) SNV Uncertain significance 486378 rs1258201485 5:235410-235410 5:235295-235295 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1786G>C (p.Asp596His) SNV Uncertain significance 486383 rs371304688 5:251575-251575 5:251460-251460 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.134C>T (p.Ala45Val) SNV Uncertain significance 486376 rs1553997190 5:223667-223667 5:223552-223552 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.191C>T (p.Ala64Val) SNV Uncertain significance 486363 rs760510019 5:224515-224515 5:224400-224400 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1064+3G>A SNV Uncertain significance 486401 rs1553999078 5:233763-233763 5:233648-233648 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1493A>G (p.Lys498Arg) SNV Uncertain significance 539647 rs745592653 5:240533-240533 5:240418-240418 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1261-3C>T SNV Uncertain significance 539700 rs1553999705 5:236540-236540 5:236425-236425 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1309G>A (p.Ala437Thr) SNV Uncertain significance 539653 rs1553999731 5:236591-236591 5:236476-236476 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.970G>A (p.Glu324Lys) SNV Uncertain significance 539687 rs147014102 5:233666-233666 5:233551-233551 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1016C>T (p.Ser339Phe) SNV Uncertain significance 539633 rs1553999043 5:233712-233712 5:233597-233597 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1738T>C (p.Tyr580His) SNV Uncertain significance 539658 rs1042056 5:251527-251527 5:251412-251412 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1813G>A (p.Asp605Asn) SNV Uncertain significance 539636 rs771593214 5:254526-254526 5:254411-254411 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1828A>G (p.Ile610Val) SNV Uncertain significance 539646 rs1554002446 5:254541-254541 5:254426-254426 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.25C>G (p.Arg9Gly) SNV Uncertain significance 539688 rs776218604 5:218495-218495 5:218380-218380 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.112G>C (p.Asp38His) SNV Uncertain significance 539629 rs1553997174 5:223645-223645 5:223530-223530 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.125G>A (p.Arg42Lys) SNV Uncertain significance 539675 rs747557411 5:223658-223658 5:223543-223543 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.290G>C (p.Arg97Thr) SNV Uncertain significance 539690 rs371274523 5:224614-224614 5:224499-224499 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1908+6T>C SNV Uncertain significance 472370 rs1359050908 5:254627-254627 5:254512-254512 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1915C>G (p.Leu639Val) SNV Uncertain significance 472372 rs1126697 5:256455-256455 5:256340-256340 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.313-3C>T SNV Uncertain significance 472382 rs1553997584 5:225531-225531 5:225416-225416 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.429G>A (p.Thr143=) SNV Uncertain significance 472389 rs906281170 5:225650-225650 5:225535-225535 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.464A>G (p.Asn155Ser) SNV Uncertain significance 472393 rs749824479 5:226005-226005 5:225890-225890 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.562C>T (p.Arg188Trp) SNV Uncertain significance 472395 rs553257776 5:226103-226103 5:225988-225988 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.923C>T (p.Thr308Met) SNV Uncertain significance 472416 rs1457666982 5:233619-233619 5:233504-233504 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1000G>A (p.Ala334Thr) SNV Uncertain significance 472292 rs1401459296 5:233696-233696 5:233581-233581 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1715T>G (p.Met572Arg) SNV Uncertain significance 472352 rs1554001925 5:251504-251504 5:251389-251389 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1775A>G (p.His592Arg) SNV Uncertain significance 472357 rs1554001966 5:251564-251564 5:251449-251449 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1787A>G (p.Asp596Gly) SNV Uncertain significance 472358 rs1126557 5:251576-251576 5:251461-251461 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1794G>A (p.Lys598=) SNV Uncertain significance 472359 rs1554001975 5:251583-251583 5:251468-251468 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1849C>T (p.Pro617Ser) SNV Uncertain significance 472361 rs1199988395 5:254562-254562 5:254447-254447 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1001C>T (p.Ala334Val) SNV Uncertain significance 472293 rs765180271 5:233697-233697 5:233582-233582 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1171G>T (p.Ala391Ser) SNV Uncertain significance 472303 rs376597185 5:235365-235365 5:235250-235250 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1214C>A (p.Thr405Asn) SNV Uncertain significance 472308 rs1553999491 5:235408-235408 5:235293-235293 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1234G>A (p.Gly412Ser) SNV Uncertain significance 472312 rs768055345 5:235428-235428 5:235313-235313 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1250A>G (p.Tyr417Cys) SNV Uncertain significance 472314 rs528628545 5:235444-235444 5:235329-235329 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1334C>T (p.Ser445Leu) SNV Uncertain significance 472322 rs1296066077 5:236616-236616 5:236501-236501 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1346C>G (p.Ala449Gly) SNV Uncertain significance 472323 rs201139275 5:236628-236628 5:236513-236513 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1396G>T (p.Ala466Ser) SNV Uncertain significance 472328 rs111387770 5:236678-236678 5:236563-236563 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1225A>C (p.Asn409His) SNV Uncertain significance 472309 rs1404377989 5:235419-235419 5:235304-235304 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.924G>A (p.Thr308=) SNV Uncertain significance 472417 rs1355760590 5:233620-233620 5:233505-233505 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.985C>G (p.Arg329Gly) SNV Uncertain significance 472422 rs771328239 5:233681-233681 5:233566-233566 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.994C>T (p.Pro332Ser) SNV Uncertain significance 472424 rs373509391 5:233690-233690 5:233575-233575 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1064+4C>A SNV Uncertain significance 472297 rs768276870 5:233764-233764 5:233649-233649 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1130C>A (p.Ala377Asp) SNV Uncertain significance 472301 rs1553999443 5:235324-235324 5:235209-235209 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.389C>G (p.Ser130Cys) SNV Uncertain significance 472385 rs1553997625 5:225610-225610 5:225495-225495 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.413C>T (p.Ala138Val) SNV Uncertain significance 472388 rs1342456775 5:225634-225634 5:225519-225519 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.664T>G (p.Leu222Val) SNV Uncertain significance 472398 rs1553998191 5:228342-228342 5:228227-228227 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.713G>T (p.Cys238Phe) SNV Uncertain significance 472400 rs1168458733 5:228391-228391 5:228276-228276 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.86G>A (p.Gly29Glu) SNV Uncertain significance 472412 rs1436200566 5:223619-223619 5:223504-223504 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1573G>A (p.Val525Met) SNV Uncertain significance 472342 rs979815942 5:251128-251128 5:251013-251013 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.284C>G (p.Pro95Arg) SNV Uncertain significance 472381 rs1553997377 5:224608-224608 5:224493-224493 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1894G>T (p.Val632Phe) SNV Uncertain significance 472368 rs369639811 5:254607-254607 5:254492-254492 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1034G>A (p.Arg345Gln) SNV Uncertain significance 472295 rs1483236652 5:233730-233730 5:233615-233615 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1040T>C (p.Met347Thr) SNV Uncertain significance 472296 rs1553999054 5:233736-233736 5:233621-233621 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1627T>C (p.Tyr543His) SNV Uncertain significance 472347 rs1339009840 5:251182-251182 5:251067-251067 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1666A>G (p.Met556Val) SNV Uncertain significance 472349 rs980397872 5:251455-251455 5:251340-251340 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1150T>G (p.Ser384Ala) SNV Uncertain significance 472302 rs776888362 5:235344-235344 5:235229-235229 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1177G>T (p.Val393Leu) SNV Uncertain significance 472304 rs372989971 5:235371-235371 5:235256-235256 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1183G>T (p.Val395Phe) SNV Uncertain significance 472305 rs748683825 5:235377-235377 5:235262-235262 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1428G>T (p.Arg476Ser) SNV Uncertain significance 472332 rs377415114 5:236710-236710 5:236595-236595 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1456C>T (p.Pro486Ser) SNV Uncertain significance 472334 rs1060503706 5:240496-240496 5:240381-240381 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1551+6A>G SNV Uncertain significance 472339 rs369507726 5:240597-240597 5:240482-240482 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1418A>C (p.Glu473Ala) SNV Uncertain significance 576286 rs1560998495 5:236700-236700 5:236585-236585 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1518A>G (p.Ile506Met) SNV Uncertain significance 570934 rs955444699 5:240558-240558 5:240443-240443 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1708A>T (p.Asn570Tyr) SNV Uncertain significance 580666 rs1561010778 5:251497-251497 5:251382-251382 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1727T>C (p.Leu576Pro) SNV Uncertain significance 577878 rs1318046349 5:251516-251516 5:251401-251401 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1769_1770GC[4] (p.His592fs) short repeat Uncertain significance 570896 rs1561010948 5:251557-251558 5:251442-251443 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1776T>G (p.His592Gln) SNV Uncertain significance 577197 rs1126538 5:251565-251565 5:251450-251450 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.14G>A (p.Arg5Gln) SNV Uncertain significance 570408 rs779027774 5:218484-218484 5:218369-218369 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.678G>A (p.Met226Ile) SNV Uncertain significance 567060 rs745884899 5:228356-228356 5:228241-228241 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.720_722del (p.Glu240del) deletion Uncertain significance 568521 rs1560990000 5:228396-228398 5:228281-228283 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.766A>G (p.Thr256Ala) SNV Uncertain significance 572960 rs1409070000 5:228444-228444 5:228329-228329 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.935G>A (p.Arg312His) SNV Uncertain significance 571301 rs876660932 5:233631-233631 5:233516-233516 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1013C>T (p.Ala338Val) SNV Uncertain significance 582739 rs1560994866 5:233709-233709 5:233594-233594 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1360G>T (p.Ala454Ser) SNV Uncertain significance 581048 rs1057517550 5:236642-236642 5:236527-236527 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1717C>G (p.Leu573Val) SNV Uncertain significance 579129 rs1445945083 5:251506-251506 5:251391-251391 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1752_1753inv (p.Arg585Trp) inversion Uncertain significance 568815 5:251541-251542 5:251426-251427 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1889T>C (p.Val630Ala) SNV Uncertain significance 581951 rs1392791825 5:254602-254602 5:254487-254487 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1936G>A (p.Asp646Asn) SNV Uncertain significance 566572 rs376986935 5:256476-256476 5:256361-256361 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1951del (p.Glu651fs) deletion Uncertain significance 575757 rs1561016316 5:256491-256491 5:256376-256376 MTC020 Mitochondrial Complex Ii Deficiency SDHD NM_003002.4(SDHD):c.421T>C (p.Tyr141His) SNV Uncertain significance 578342 rs1394514096 11:111965635-111965635 11:112094911-112094911 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.841A>G (p.Thr281Ala) SNV Uncertain significance 548821 rs772325115 5:231061-231061 5:230946-230946 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1006G>T (p.Asp336Tyr) SNV Uncertain significance 548793 rs1553999038 5:233702-233702 5:233587-233587 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1951G>C (p.Glu651Gln) SNV Uncertain significance 548773 rs375396913 5:256491-256491 5:256376-256376 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.499A>C (p.Lys167Gln) SNV Uncertain significance 583035 rs763578369 5:226040-226040 5:225925-225925 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.640A>G (p.Ser214Gly) SNV Uncertain significance 582812 rs752144637 5:228318-228318 5:228203-228203 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.861C>G (p.Cys287Trp) SNV Uncertain significance 581809 rs140797184 5:231081-231081 5:230966-230966 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.986G>A (p.Arg329Gln) SNV Uncertain significance 569615 rs138265892 5:233682-233682 5:233567-233567 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys) SNV Uncertain significance 578770 rs182055219 5:233598-233598 5:233483-233483 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1004A>C (p.Lys335Thr) SNV Uncertain significance 574703 rs1560994846 5:233700-233700 5:233585-233585 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1297C>T (p.Pro433Ser) SNV Uncertain significance 567405 rs1560998056 5:236579-236579 5:236464-236464 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.589G>C (p.Gly197Arg) SNV Uncertain significance 571124 rs1560987881 5:226130-226130 5:226015-226015 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.629G>A (p.Arg210Gln) SNV Uncertain significance 567705 rs762108779 5:228307-228307 5:228192-228192 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.837G>T (p.Met279Ile) SNV Uncertain significance 579691 rs746145822 5:231057-231057 5:230942-230942 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.188A>G (p.Asp63Gly) SNV Uncertain significance 579606 rs1553997327 5:224512-224512 5:224397-224397 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.530G>C (p.Ser177Thr) SNV Uncertain significance 539671 rs1553997783 5:226071-226071 5:225956-225956 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.510G>C (p.Gln170His) SNV Uncertain significance 663058 5:226051-226051 5:225936-225936 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.523G>A (p.Gly175Arg) SNV Uncertain significance 647432 5:226064-226064 5:225949-225949 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.559C>T (p.His187Tyr) SNV Uncertain significance 647317 5:226100-226100 5:225985-225985 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.590G>A (p.Gly197Asp) SNV Uncertain significance 643326 5:226131-226131 5:226016-226016 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.595T>A (p.Ser199Thr) SNV Uncertain significance 646346 5:226136-226136 5:226021-226021 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.70A>G (p.Thr24Ala) SNV Uncertain significance 659245 5:223603-223603 5:223488-223488 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.127G>A (p.Ala43Thr) SNV Uncertain significance 645943 5:223660-223660 5:223545-223545 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.293C>T (p.Ser98Leu) SNV Uncertain significance 646704 5:224617-224617 5:224502-224502 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.296A>G (p.His99Arg) SNV Uncertain significance 644868 5:224620-224620 5:224505-224505 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.316G>C (p.Gly106Arg) SNV Uncertain significance 643622 5:225537-225537 5:225422-225422 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.350A>G (p.Asp117Gly) SNV Uncertain significance 661066 5:225571-225571 5:225456-225456 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.365A>G (p.His122Arg) SNV Uncertain significance 659802 5:225586-225586 5:225471-225471 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.421T>C (p.Tyr141His) SNV Uncertain significance 654288 5:225642-225642 5:225527-225527 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.440C>A (p.Pro147His) SNV Uncertain significance 654956 5:225661-225661 5:225546-225546 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.485G>C (p.Arg162Thr) SNV Uncertain significance 661595 5:226026-226026 5:225911-225911 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.498G>T (p.Gly166=) SNV Uncertain significance 657263 5:226039-226039 5:225924-225924 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.632A>G (p.Tyr211Cys) SNV Uncertain significance 640072 5:228310-228310 5:228195-228195 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.644A>G (p.Tyr215Cys) SNV Uncertain significance 653195 5:228322-228322 5:228207-228207 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.667G>T (p.Asp223Tyr) SNV Uncertain significance 642303 5:228345-228345 5:228230-228230 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.676A>T (p.Met226Leu) SNV Uncertain significance 642985 5:228354-228354 5:228239-228239 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.730A>G (p.Ile244Val) SNV Uncertain significance 661508 5:228408-228408 5:228293-228293 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.776A>G (p.Tyr259Cys) SNV Uncertain significance 653830 5:230996-230996 5:230881-230881 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.785C>T (p.Thr262Ile) SNV Uncertain significance 658469 5:231005-231005 5:230890-230890 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.796T>C (p.Cys266Arg) SNV Uncertain significance 645239 5:231016-231016 5:230901-230901 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.805G>A (p.Ala269Thr) SNV Uncertain significance 644331 5:231025-231025 5:230910-230910 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.812C>T (p.Thr271Ile) SNV Uncertain significance 659385 5:231032-231032 5:230917-230917 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.856C>T (p.Pro286Ser) SNV Uncertain significance 646688 5:231076-231076 5:230961-230961 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.871G>A (p.Glu291Lys) SNV Uncertain significance 654871 5:231091-231091 5:230976-230976 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.872A>T (p.Glu291Val) SNV Uncertain significance 641776 5:231092-231092 5:230977-230977 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.897C>T (p.Gly299=) SNV Uncertain significance 643927 5:233593-233593 5:233478-233478 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.898A>C (p.Ile300Leu) SNV Uncertain significance 656424 5:233594-233594 5:233479-233479 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1324G>A (p.Ala442Thr) SNV Uncertain significance 539668 rs754893758 5:236606-236606 5:236491-236491 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1382T>C (p.Val461Ala) SNV Uncertain significance 539656 rs767452676 5:236664-236664 5:236549-236549 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1424G>C (p.Cys475Ser) SNV Uncertain significance 539640 rs748567636 5:236706-236706 5:236591-236591 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1567G>T (p.Ala523Ser) SNV Uncertain significance 539628 rs1554001820 5:251122-251122 5:251007-251007 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1679C>T (p.Thr560Met) SNV Uncertain significance 539635 rs775350508 5:251468-251468 5:251353-251353 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1794+3G>A SNV Uncertain significance 539669 rs375883981 5:251586-251586 5:251471-251471 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1913del (p.Thr638fs) deletion Uncertain significance 539645 rs1554002857 5:256453-256453 5:256338-256338 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.688G>C (p.Glu230Gln) SNV Uncertain significance 539679 rs1436777353 5:228366-228366 5:228251-228251 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.965A>C (p.Gln322Pro) SNV Uncertain significance 539683 rs1553998989 5:233661-233661 5:233546-233546 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1087C>G (p.His363Asp) SNV Uncertain significance 539627 rs1553999417 5:235281-235281 5:235166-235166 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1144G>A (p.Gly382Ser) SNV Uncertain significance 539681 rs1272640628 5:235338-235338 5:235223-235223 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1156A>G (p.Thr386Ala) SNV Uncertain significance 539644 rs1553999461 5:235350-235350 5:235235-235235 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1157C>T (p.Thr386Ile) SNV Uncertain significance 539659 rs773218958 5:235351-235351 5:235236-235236 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1171G>A (p.Ala391Thr) SNV Uncertain significance 539648 rs376597185 5:235365-235365 5:235250-235250 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.967G>A (p.Gly323Ser) SNV Uncertain significance 539689 rs1553998991 5:233663-233663 5:233548-233548 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1078G>A (p.Glu360Lys) SNV Uncertain significance 539652 rs766779919 5:235272-235272 5:235157-235157 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1107C>A (p.His369Gln) SNV Uncertain significance 539660 rs1268877544 5:235301-235301 5:235186-235186 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.154T>A (p.Ser52Thr) SNV Uncertain significance 539680 rs150326789 5:224478-224478 5:224363-224363 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.204C>T (p.Gly68=) SNV Uncertain significance 539655 rs1055082816 5:224528-224528 5:224413-224413 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.505T>C (p.Tyr169His) SNV Uncertain significance 539678 rs1553997754 5:226046-226046 5:225931-225931 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1261-9T>A SNV Uncertain significance 539682 rs1553999698 5:236534-236534 5:236419-236419 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1430C>A (p.Pro477His) SNV Uncertain significance 539654 rs146990772 5:236712-236712 5:236597-236597 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1759G>A (p.Glu587Lys) SNV Uncertain significance 539630 rs1554001954 5:251548-251548 5:251433-251433 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.260C>T (p.Thr87Ile) SNV Uncertain significance 539673 rs756543943 5:224584-224584 5:224469-224469 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.503T>C (p.Ile168Thr) SNV Uncertain significance 539667 rs1553997748 5:226044-226044 5:225929-225929 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.830C>A (p.Thr277Lys) SNV Uncertain significance 539686 rs367721665 5:231050-231050 5:230935-230935 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.853C>T (p.Leu285Phe) SNV Uncertain significance 539676 rs747045191 5:231073-231073 5:230958-230958 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.940G>A (p.Glu314Lys) SNV Uncertain significance 539670 rs1337704280 5:233636-233636 5:233521-233521 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1183G>A (p.Val395Ile) SNV Uncertain significance 539631 rs748683825 5:235377-235377 5:235262-235262 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1502T>G (p.Phe501Cys) SNV Uncertain significance 579940 rs757932443 5:240542-240542 5:240427-240427 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1546C>G (p.Gln516Glu) SNV Uncertain significance 570677 rs1251348764 5:240586-240586 5:240471-240471 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1648A>C (p.Lys550Gln) SNV Uncertain significance 575333 rs1400219619 5:251203-251203 5:251088-251088 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1741G>A (p.Gly581Arg) SNV Uncertain significance 571817 rs771111180 5:251530-251530 5:251415-251415 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1935C>G (p.Ile645Met) SNV Uncertain significance 572164 rs762128553 5:256475-256475 5:256360-256360 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.55G>A (p.Ala19Thr) SNV Uncertain significance 574760 rs1560980986 5:218525-218525 5:218410-218410 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.106A>T (p.Thr36Ser) SNV Uncertain significance 568109 rs750500173 5:223639-223639 5:223524-223524 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.460G>A (p.Glu154Lys) SNV Uncertain significance 576542 rs1560987595 5:226001-226001 5:225886-225886 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.587C>T (p.Thr196Ile) SNV Uncertain significance 576234 rs1560987863 5:226128-226128 5:226013-226013 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.752A>C (p.Asn251Thr) SNV Uncertain significance 572071 rs1318566276 5:228430-228430 5:228315-228315 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.869T>C (p.Leu290Pro) SNV Uncertain significance 847930 5:231089-231089 5:230974-230974 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1037_1038inv (p.Ser346Trp) inversion Uncertain significance 572860 5:233733-233734 5:233618-233619 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1041G>A (p.Met347Ile) SNV Uncertain significance 578162 rs1560994934 5:233737-233737 5:233622-233622 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1070G>A (p.Cys357Tyr) SNV Uncertain significance 580845 rs1560996433 5:235264-235264 5:235149-235149 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1352G>A (p.Arg451His) SNV Uncertain significance 581412 rs370690436 5:236634-236634 5:236519-236519 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1430C>T (p.Pro477Leu) SNV Uncertain significance 574308 rs146990772 5:236712-236712 5:236597-236597 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1481T>C (p.Met494Thr) SNV Uncertain significance 566486 rs1561001630 5:240521-240521 5:240406-240406 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1640A>G (p.Lys547Arg) SNV Uncertain significance 572160 rs1561010407 5:251195-251195 5:251080-251080 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1663G>C (p.Gly555Arg) SNV Uncertain significance 580366 rs1392860800 5:251218-251218 5:251103-251103 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1663+3G>C SNV Uncertain significance 577461 rs751904543 5:251221-251221 5:251106-251106 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1674G>T (p.Trp558Cys) SNV Uncertain significance 581435 rs1561010726 5:251463-251463 5:251348-251348 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1723G>A (p.Ala575Thr) SNV Uncertain significance 581458 rs1301370839 5:251512-251512 5:251397-251397 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1934T>C (p.Ile645Thr) SNV Uncertain significance 565609 rs1282623859 5:256474-256474 5:256359-256359 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.8G>C (p.Gly3Ala) SNV Uncertain significance 580088 rs1398198098 5:218478-218478 5:218363-218363 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.26G>A (p.Arg9Gln) SNV Uncertain significance 570779 rs761508577 5:218496-218496 5:218381-218381 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.89C>T (p.Thr30Ile) SNV Uncertain significance 577148 rs1560985157 5:223622-223622 5:223507-223507 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.148T>G (p.Ser50Ala) SNV Uncertain significance 568506 rs1560985310 5:223681-223681 5:223566-223566 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.150+2dup duplication Uncertain significance 569050 rs1560985349 5:223684-223685 5:223569-223570 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.150+5G>T SNV Uncertain significance 580766 rs770610694 5:223688-223688 5:223573-223573 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1552-3C>T SNV Uncertain significance 539685 rs1222778933 5:251104-251104 5:250989-250989 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1813G>C (p.Asp605His) SNV Uncertain significance 539672 rs771593214 5:254526-254526 5:254411-254411 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1886A>C (p.Tyr629Ser) SNV Uncertain significance 539661 rs6960 5:254599-254599 5:254484-254484 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1960T>G (p.Cys654Gly) SNV Uncertain significance 539637 rs60587941 5:256500-256500 5:256385-256385 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1961G>C (p.Cys654Ser) SNV Uncertain significance 539662 rs1554002895 5:256501-256501 5:256386-256386 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1978G>A (p.Ala660Thr) SNV Uncertain significance 539665 rs1554002911 5:256518-256518 5:256403-256403 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1298C>T (p.Pro433Leu) SNV Uncertain significance 539650 rs747488969 5:236580-236580 5:236465-236465 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1313G>T (p.Cys438Phe) SNV Uncertain significance 539632 rs1424809160 5:236595-236595 5:236480-236480 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1432+4A>G SNV Uncertain significance 539634 rs1553999798 5:236718-236718 5:236603-236603 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.781C>T (p.Arg261Cys) SNV Uncertain significance 539677 rs143484394 5:231001-231001 5:230886-230886 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1472A>C (p.Glu491Ala) SNV Uncertain significance 539639 rs754324916 5:240512-240512 5:240397-240397 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1522A>G (p.Thr508Ala) SNV Uncertain significance 539684 rs1060503718 5:240562-240562 5:240447-240447 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1793A>G (p.Lys598Arg) SNV Uncertain significance 641736 5:251582-251582 5:251467-251467 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1830C>G (p.Ile610Met) SNV Uncertain significance 648033 5:254543-254543 5:254428-254428 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1861C>G (p.His621Asp) SNV Uncertain significance 645526 5:254574-254574 5:254459-254459 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1866G>A (p.Trp622Ter) SNV Uncertain significance 656669 5:254579-254579 5:254464-254464 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1871A>G (p.Lys624Arg) SNV Uncertain significance 641013 5:254584-254584 5:254469-254469 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1880dup (p.Ser628fs) duplication Uncertain significance 646822 5:254592-254593 5:254477-254478 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1885T>A (p.Tyr629Asn) SNV Uncertain significance 662274 5:254598-254598 5:254483-254483 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1895T>C (p.Val632Ala) SNV Uncertain significance 663583 5:254608-254608 5:254493-254493 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1909G>A (p.Val637Ile) SNV Uncertain significance 639620 5:256449-256449 5:256334-256334 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1913C>T (p.Thr638Ile) SNV Uncertain significance 656041 5:256453-256453 5:256338-256338 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1927C>T (p.Pro643Ser) SNV Uncertain significance 659942 5:256467-256467 5:256352-256352 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1949A>G (p.Asn650Ser) SNV Uncertain significance 640960 5:256489-256489 5:256374-256374 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1979C>T (p.Ala660Val) SNV Uncertain significance 656870 5:256519-256519 5:256404-256404 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1646T>C (p.Leu549Pro) SNV Uncertain significance 663867 5:251201-251201 5:251086-251086 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1662G>T (p.Arg554=) SNV Uncertain significance 663814 5:251217-251217 5:251102-251102 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1684C>A (p.Leu562Met) SNV Uncertain significance 641168 5:251473-251473 5:251358-251358 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1694C>A (p.Thr565Asn) SNV Uncertain significance 664015 5:251483-251483 5:251368-251368 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1697T>G (p.Leu566Arg) SNV Uncertain significance 643904 5:251486-251486 5:251371-251371 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1736T>C (p.Ile579Thr) SNV Uncertain significance 649206 5:251525-251525 5:251410-251410 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1763C>T (p.Ser588Leu) SNV Uncertain significance 651365 5:251552-251552 5:251437-251437 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1774C>A (p.His592Asn) SNV Uncertain significance 647219 5:251563-251563 5:251448-251448 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1774C>T (p.His592Tyr) SNV Uncertain significance 662449 5:251563-251563 5:251448-251448 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1291A>G (p.Ile431Val) SNV Uncertain significance 642550 5:236573-236573 5:236458-236458 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1349A>G (p.Asn450Ser) SNV Uncertain significance 662316 5:236631-236631 5:236516-236516 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1358G>A (p.Gly453Glu) SNV Uncertain significance 640826 5:236640-236640 5:236525-236525 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1409G>A (p.Ser470Asn) SNV Uncertain significance 655805 5:236691-236691 5:236576-236576 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1472A>G (p.Glu491Gly) SNV Uncertain significance 640767 5:240512-240512 5:240397-240397 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1477G>T (p.Val493Phe) SNV Uncertain significance 646825 5:240517-240517 5:240402-240402 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1480A>G (p.Met494Val) SNV Uncertain significance 643461 5:240520-240520 5:240405-240405 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1491C>G (p.Asp497Glu) SNV Uncertain significance 643260 5:240531-240531 5:240416-240416 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1510G>A (p.Gly504Arg) SNV Uncertain significance 644075 5:240550-240550 5:240435-240435 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1516A>G (p.Ile506Val) SNV Uncertain significance 663683 5:240556-240556 5:240441-240441 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1525T>C (p.Ser509Pro) SNV Uncertain significance 659056 5:240565-240565 5:240450-240450 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1547A>G (p.Gln516Arg) SNV Uncertain significance 640265 5:240587-240587 5:240472-240472 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.944G>A (p.Gly315Glu) SNV Uncertain significance 659432 5:233640-233640 5:233525-233525 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.992C>G (p.Ala331Gly) SNV Uncertain significance 645574 5:233688-233688 5:233573-233573 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1007A>C (p.Asp336Ala) SNV Uncertain significance 645584 5:233703-233703 5:233588-233588 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1019G>T (p.Arg340Ile) SNV Uncertain significance 651709 5:233715-233715 5:233600-233600 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1022A>C (p.Asp341Ala) SNV Uncertain significance 655570 5:233718-233718 5:233603-233603 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1099C>G (p.Gln367Glu) SNV Uncertain significance 651462 5:235293-235293 5:235178-235178 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1122G>T (p.Glu374Asp) SNV Uncertain significance 658404 5:235316-235316 5:235201-235201 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1127T>C (p.Leu376Pro) SNV Uncertain significance 663781 5:235321-235321 5:235206-235206 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1132A>G (p.Thr378Ala) SNV Uncertain significance 662954 5:235326-235326 5:235211-235211 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1191G>C (p.Lys397Asn) SNV Uncertain significance 660259 5:235385-235385 5:235270-235270 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1246A>G (p.Asn416Asp) SNV Uncertain significance 642754 5:235440-235440 5:235325-235325 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.736C>T (p.Arg246Cys) SNV Uncertain significance 826994 5:228414-228414 5:228299-228299 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.886C>T (p.His296Tyr) SNV Uncertain significance 822786 5:231106-231106 5:230991-230991 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.145G>C (p.Asp49His) SNV Uncertain significance 841052 5:223678-223678 5:223563-223563 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1177G>C (p.Val393Leu) SNV Uncertain significance 837137 5:235371-235371 5:235256-235256 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1215C>A (p.Thr405=) SNV Uncertain significance 860596 5:235409-235409 5:235294-235294 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1374G>A (p.Leu458=) SNV Uncertain significance 855281 5:236656-236656 5:236541-236541 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1375G>C (p.Asp459His) SNV Uncertain significance 840854 5:236657-236657 5:236542-236542 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.221T>C (p.Leu74Ser) SNV Uncertain significance 846353 5:224545-224545 5:224430-224430 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.236G>A (p.Gly79Asp) SNV Uncertain significance 845269 5:224560-224560 5:224445-224445 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.256A>G (p.Asn86Asp) SNV Uncertain significance 862840 5:224580-224580 5:224465-224465 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.274A>C (p.Lys92Gln) SNV Uncertain significance 836019 5:224598-224598 5:224483-224483 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.276G>C (p.Lys92Asn) SNV Uncertain significance 859527 5:224600-224600 5:224485-224485 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.305C>T (p.Ala102Val) SNV Uncertain significance 858570 5:224629-224629 5:224514-224514 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.320T>A (p.Ile107Asn) SNV Uncertain significance 840793 5:225541-225541 5:225426-225426 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1413C>G (p.Ile471Met) SNV Uncertain significance 838091 5:236695-236695 5:236580-236580 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1428G>C (p.Arg476Ser) SNV Uncertain significance 863494 5:236710-236710 5:236595-236595 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1463C>T (p.Ala488Val) SNV Uncertain significance 854586 5:240503-240503 5:240388-240388 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1564_1566del (p.His522del) deletion Uncertain significance 856710 5:251117-251119 5:251002-251004 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1598A>T (p.Gln533Leu) SNV Uncertain significance 851961 5:251153-251153 5:251038-251038 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1651A>G (p.Thr551Ala) SNV Uncertain significance 855298 5:251206-251206 5:251091-251091 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1687G>A (p.Val563Met) SNV Uncertain significance 854720 5:251476-251476 5:251361-251361 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1687G>T (p.Val563Leu) SNV Uncertain significance 848225 5:251476-251476 5:251361-251361 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1692G>C (p.Glu564Asp) SNV Uncertain significance 843066 5:251481-251481 5:251366-251366 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1712T>C (p.Leu571Pro) SNV Uncertain significance 850046 5:251501-251501 5:251386-251386 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1846A>G (p.Lys616Glu) SNV Uncertain significance 848077 5:254559-254559 5:254444-254444 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1900A>T (p.Thr634Ser) SNV Uncertain significance 858933 5:254613-254613 5:254498-254498 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1954G>A (p.Ala652Thr) SNV Uncertain significance 838979 5:256494-256494 5:256379-256379 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.456+3G>T SNV Uncertain significance 848703 5:225680-225680 5:225565-225565 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1886A>G (p.Tyr629Cys) SNV Uncertain significance 820258 5:254599-254599 5:254484-254484 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.7G>C (p.Gly3Arg) SNV Uncertain significance 858972 5:218477-218477 5:218362-218362 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.17G>C (p.Gly6Ala) SNV Uncertain significance 862272 5:218487-218487 5:218372-218372 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.17G>T (p.Gly6Val) SNV Uncertain significance 849161 5:218487-218487 5:218372-218372 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.19C>G (p.Leu7Val) SNV Uncertain significance 837864 5:218489-218489 5:218374-218374 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.22T>C (p.Ser8Pro) SNV Uncertain significance 839833 5:218492-218492 5:218377-218377 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.26G>T (p.Arg9Leu) SNV Uncertain significance 839550 5:218496-218496 5:218381-218381 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.32T>A (p.Leu11Gln) SNV Uncertain significance 850047 5:218502-218502 5:218387-218387 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.36C>A (p.Ser12Arg) SNV Uncertain significance 835917 5:218506-218506 5:218391-218391 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.79C>G (p.Gln27Glu) SNV Uncertain significance 837889 5:223612-223612 5:223497-223497 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1795-3C>G SNV Uncertain significance 809728 5:254505-254505 5:254390-254390 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.149C>A (p.Ser50Tyr) SNV Uncertain significance 819388 5:223682-223682 5:223567-223567 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.553C>G (p.Gln185Glu) SNV Uncertain significance 825814 5:226094-226094 5:225979-225979 MTC020 Mitochondrial Complex Ii Deficiency SDHAF1 NM_001042631.2(SDHAF1):c.29A>C (p.Gln10Pro) SNV Uncertain significance 691614 19:36486205-36486205 19:35995303-35995303 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.313-10G>A SNV Uncertain significance 644786 5:225524-225524 5:225409-225409 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.469G>A (p.Gly157Ser) SNV Uncertain significance 849664 5:226010-226010 5:225895-225895 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.568T>C (p.Cys190Arg) SNV Uncertain significance 841097 5:226109-226109 5:225994-225994 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.578C>G (p.Ala193Gly) SNV Uncertain significance 839188 5:226119-226119 5:226004-226004 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.578C>T (p.Ala193Val) SNV Uncertain significance 835415 5:226119-226119 5:226004-226004 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.583C>T (p.Arg195Trp) SNV Uncertain significance 855207 5:226124-226124 5:226009-226009 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.602T>C (p.Leu201Ser) SNV Uncertain significance 853470 5:226143-226143 5:226028-226028 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.619A>T (p.Arg207Trp) SNV Uncertain significance 843442 5:226160-226160 5:226045-226045 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.649G>C (p.Val217Leu) SNV Uncertain significance 837700 5:228327-228327 5:228212-228212 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.718G>A (p.Glu240Lys) SNV Uncertain significance 846373 5:228396-228396 5:228281-228281 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.734A>T (p.His245Leu) SNV Uncertain significance 849964 5:228412-228412 5:228297-228297 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.737G>A (p.Arg246His) SNV Uncertain significance 851117 5:228415-228415 5:228300-228300 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.809A>T (p.His270Leu) SNV Uncertain significance 839818 5:231029-231029 5:230914-230914 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.836T>C (p.Met279Thr) SNV Uncertain significance 837679 5:231056-231056 5:230941-230941 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.889C>T (p.Pro297Ser) SNV Uncertain significance 849972 5:231109-231109 5:230994-230994 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.962G>T (p.Ser321Ile) SNV Uncertain significance 848993 5:233658-233658 5:233543-233543 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1028T>A (p.Val343Glu) SNV Uncertain significance 861976 5:233724-233724 5:233609-233609 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1031C>A (p.Ser344Tyr) SNV Uncertain significance 852180 5:233727-233727 5:233612-233612 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1037_1038delinsTG (p.Ser346Leu) indel Uncertain significance 855656 5:233733-233734 5:233618-233619 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1103_1105del (p.Leu368del) deletion Uncertain significance 841881 5:235295-235297 5:235180-235182 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1835G>A (p.Gly612Glu) SNV Uncertain significance 389139 rs1057523336 5:254548-254548 5:254433-254433 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1092C>T (p.Val364=) SNV Uncertain significance 353204 rs886060515 5:235286-235286 5:235171-235171 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_001294332.1(SDHA):c.-63G>A SNV Uncertain significance 353199 rs886060513 5:218408-218408 5:218293-218293 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.269T>C (p.Val90Ala) SNV Uncertain significance 353202 rs886060514 5:224593-224593 5:224478-224478 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.*189C>T SNV Uncertain significance 353209 rs185107377 5:256724-256724 5:256609-256609 MTC020 Mitochondrial Complex Ii Deficiency SDHD NM_003002.4(SDHD):c.335C>T (p.Thr112Ile) SNV Uncertain significance 239468 rs199869408 11:111965549-111965549 11:112094825-112094825 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1657G>A (p.Asp553Asn) SNV Uncertain significance 239654 rs769882609 5:251212-251212 5:251097-251097 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.3(SDHA):c.-115-?_1432+?dup1547 duplication Uncertain significance 254059 MTC020 Mitochondrial Complex Ii Deficiency SDHAF1 NM_001042631.2(SDHAF1):c.*329G>C SNV Uncertain significance 328901 rs886054355 19:36486853-36486853 19:35995951-35995951 MTC020 Mitochondrial Complex Ii Deficiency SDHAF1 NM_001042631.2(SDHAF1):c.*682A>T SNV Uncertain significance 328903 rs554739627 19:36487206-36487206 19:35996304-35996304 MTC020 Mitochondrial Complex Ii Deficiency SDHAF1 NM_001042631.2(SDHAF1):c.-64C>G SNV Uncertain significance 328899 rs886054354 19:36486113-36486113 19:35995211-35995211 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.*75A>G SNV Uncertain significance 353207 rs886060517 5:256610-256610 5:256495-256495 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1064+5G>A SNV Uncertain significance 371829 rs200021115 5:233765-233765 5:233650-233650 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.996_998delinsCAC (p.Val333Thr) indel Uncertain significance 371798 rs1057517540 5:233692-233694 5:233577-233579 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.896-11G>T SNV Uncertain significance 907705 5:233581-233581 5:233466-233466 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.424A>C (p.Met142Leu) SNV Uncertain significance 849087 5:225645-225645 5:225530-225530 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.456+3_456+4delinsCT indel Uncertain significance 853431 5:225680-225681 5:225565-225566 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1261-7T>A SNV Uncertain significance 844562 5:236536-236536 5:236421-236421 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1663+5G>C SNV Uncertain significance 844105 5:251223-251223 5:251108-251108 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.895+6G>A SNV Uncertain significance 856229 5:231121-231121 5:231006-231006 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1552-10T>G SNV Uncertain significance 858937 5:251097-251097 5:250982-250982 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1795-6C>A SNV Uncertain significance 835655 5:254502-254502 5:254387-254387 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1909-5T>C SNV Uncertain significance 861251 5:256444-256444 5:256329-256329 MTC020 Mitochondrial Complex Ii Deficiency SDHAF1 NM_001042631.3(SDHAF1):c.3G>A (p.Met1Ile) SNV Uncertain significance 888666 19:36486179-36486179 19:35995277-35995277 MTC020 Mitochondrial Complex Ii Deficiency SDHAF1 NM_001042631.3(SDHAF1):c.46C>T (p.Arg16Cys) SNV Uncertain significance 888667 19:36486222-36486222 19:35995320-35995320 MTC020 Mitochondrial Complex Ii Deficiency SDHAF1 NM_001042631.3(SDHAF1):c.49G>A (p.Asp17Asn) SNV Uncertain significance 888668 19:36486225-36486225 19:35995323-35995323 MTC020 Mitochondrial Complex Ii Deficiency SDHAF1 NM_001042631.3(SDHAF1):c.117T>C (p.His39=) SNV Uncertain significance 890368 19:36486293-36486293 19:35995391-35995391 MTC020 Mitochondrial Complex Ii Deficiency SDHAF1 NM_001042631.3(SDHAF1):c.*66G>A SNV Uncertain significance 890369 19:36486590-36486590 19:35995688-35995688 MTC020 Mitochondrial Complex Ii Deficiency SDHAF1 NM_001042631.3(SDHAF1):c.*229C>T SNV Uncertain significance 890370 19:36486753-36486753 19:35995851-35995851 MTC020 Mitochondrial Complex Ii Deficiency SDHAF1 NM_001042631.3(SDHAF1):c.*248C>T SNV Uncertain significance 890371 19:36486772-36486772 19:35995870-35995870 MTC020 Mitochondrial Complex Ii Deficiency SDHAF1 NM_001042631.3(SDHAF1):c.*323C>G SNV Uncertain significance 890928 19:36486847-36486847 19:35995945-35995945 MTC020 Mitochondrial Complex Ii Deficiency SDHAF1 NM_001042631.3(SDHAF1):c.*327C>A SNV Uncertain significance 890929 19:36486851-36486851 19:35995949-35995949 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.403G>A (p.Asp135Asn) SNV Uncertain significance 904234 5:225624-225624 5:225509-225509 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1969G>C (p.Val657Leu) SNV Uncertain significance 905279 5:256509-256509 5:256394-256394 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.*102G>A SNV Uncertain significance 904553 5:256637-256637 5:256522-256522 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.*179G>A SNV Uncertain significance 904554 5:256714-256714 5:256599-256599 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.704T>C (p.Ile235Thr) SNV Uncertain significance 221076 rs144513891 5:228382-228382 5:228267-228267 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1951G>A (p.Glu651Lys) SNV Uncertain significance 220782 rs375396913 5:256491-256491 5:256376-256376 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1591G>A (p.Val531Met) SNV Uncertain significance 212143 rs371056571 5:251146-251146 5:251031-251031 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.994C>G (p.Pro332Ala) SNV Uncertain significance 212144 rs373509391 5:233690-233690 5:233575-233575 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1526C>T (p.Ser509Leu) SNV Uncertain significance 39586 rs397514541 5:240566-240566 5:240451-240451 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.512G>A (p.Arg171His) SNV Uncertain significance 141875 rs587782076 5:226053-226053 5:225938-225938 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1541G>C (p.Ser514Thr) SNV Uncertain significance 141415 rs587781729 5:240581-240581 5:240466-240466 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.694C>T (p.Arg232Cys) SNV Uncertain significance 239680 rs878854635 5:228372-228372 5:228257-228257 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.698G>T (p.Gly233Val) SNV Uncertain significance 239681 rs878854636 5:228376-228376 5:228261-228261 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.724G>A (p.Gly242Arg) SNV Uncertain significance 239682 rs764534044 5:228402-228402 5:228287-228287 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1549A>G (p.Lys517Glu) SNV Uncertain significance 239652 rs786205210 5:240589-240589 5:240474-240474 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.451G>A (p.Val151Ile) SNV Uncertain significance 239669 rs143148642 5:225672-225672 5:225557-225557 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.23C>G (p.Ser8Trp) SNV Uncertain significance 239665 rs878854631 5:218493-218493 5:218378-218378 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.287C>T (p.Thr96Ile) SNV Uncertain significance 239666 rs377620054 5:224611-224611 5:224496-224496 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.64-3C>T SNV Uncertain significance 229704 rs772607568 5:223594-223594 5:223479-223479 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.106A>G (p.Thr36Ala) SNV Uncertain significance 230054 rs750500173 5:223639-223639 5:223524-223524 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.476C>T (p.Pro159Leu) SNV Uncertain significance 232064 rs759827541 5:226017-226017 5:225902-225902 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1199T>A (p.Ile400Asn) SNV Uncertain significance 234151 rs876660886 5:235393-235393 5:235278-235278 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.739A>G (p.Ile247Val) SNV Uncertain significance 232828 rs571292356 5:228417-228417 5:228302-228302 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1135C>T (p.Arg379Cys) SNV Uncertain significance 230873 rs749309213 5:235329-235329 5:235214-235214 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.3(SDHA):c.-115-?_*280+?dup2390 duplication Uncertain significance 239633 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1794+3G>C SNV Uncertain significance 229686 rs375883981 5:251586-251586 5:251471-251471 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.92G>A (p.Arg31Gln) SNV Uncertain significance 239687 rs752532780 5:223625-223625 5:223510-223510 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.109G>A (p.Val37Ile) SNV Uncertain significance 239636 rs758426529 5:223642-223642 5:223527-223527 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.205G>A (p.Ala69Thr) SNV Uncertain significance 239662 rs370481102 5:224529-224529 5:224414-224414 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.899T>C (p.Ile300Thr) SNV Uncertain significance 239684 rs878854637 5:233595-233595 5:233480-233480 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.914G>T (p.Cys305Phe) SNV Uncertain significance 239685 rs878854638 5:233610-233610 5:233495-233495 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.919A>G (p.Ile307Val) SNV Uncertain significance 239686 rs200632016 5:233615-233615 5:233500-233500 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.596C>T (p.Ser199Leu) SNV Uncertain significance 239675 rs878854633 5:226137-226137 5:226022-226022 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1196C>T (p.Pro399Leu) SNV Uncertain significance 239638 rs878854625 5:235390-235390 5:235275-235275 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1234G>T (p.Gly412Cys) SNV Uncertain significance 239640 rs768055345 5:235428-235428 5:235313-235313 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1273G>A (p.Val425Met) SNV Uncertain significance 239642 rs201822097 5:236555-236555 5:236440-236440 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1393C>T (p.Arg465Trp) SNV Uncertain significance 239644 rs752461029 5:236675-236675 5:236560-236560 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1423T>C (p.Cys475Arg) SNV Uncertain significance 239646 rs781747137 5:236705-236705 5:236590-236590 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.155C>T (p.Ser52Phe) SNV Uncertain significance 252906 rs377470390 5:224479-224479 5:224364-224364 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln) SNV Uncertain significance 239658 rs752360961 5:251543-251543 5:251428-251428 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1798C>T (p.Arg600Trp) SNV Uncertain significance 239659 rs878854630 5:254511-254511 5:254396-254396 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1750G>A (p.Ala584Thr) SNV Uncertain significance 239656 rs878854629 5:251539-251539 5:251424-251424 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1532T>C (p.Leu511Pro) SNV Uncertain significance 239650 rs375194444 5:240572-240572 5:240457-240457 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1535G>A (p.Arg512Gln) SNV Uncertain significance 239651 rs192818312 5:240575-240575 5:240460-240460 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1653G>A (p.Thr551=) SNV Likely benign 239653 rs761927291 5:251208-251208 5:251093-251093 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1432+7G>C SNV Likely benign 239649 rs760526397 5:236721-236721 5:236606-236606 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.600A>G (p.Leu200=) SNV Likely benign 252910 rs201967413 5:226141-226141 5:226026-226026 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.918C>G (p.Leu306=) SNV Likely benign 252911 rs138828792 5:233614-233614 5:233499-233499 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1299C>T (p.Pro433=) SNV Likely benign 239643 rs144473374 5:236581-236581 5:236466-236466 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1242C>T (p.Pro414=) SNV Likely benign 239641 rs777306884 5:235436-235436 5:235321-235321 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1215C>T (p.Thr405=) SNV Likely benign 239639 rs762888704 5:235409-235409 5:235294-235294 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.621+8C>T SNV Likely benign 239676 rs201091275 5:226170-226170 5:226055-226055 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1182C>T (p.Asp394=) SNV Likely benign 239637 rs377317558 5:235376-235376 5:235261-235261 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.219C>G (p.Gly73=) SNV Likely benign 239663 rs776288745 5:224543-224543 5:224428-224428 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.423C>T (p.Tyr141=) SNV Likely benign 239667 rs768897373 5:225644-225644 5:225529-225529 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.63+8C>T SNV Likely benign 239679 rs766358430 5:218541-218541 5:218426-218426 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.453C>T (p.Val151=) SNV Likely benign 239670 rs138917116 5:225674-225674 5:225559-225559 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.513T>C (p.Arg171=) SNV Likely benign 239673 rs765157205 5:226054-226054 5:225939-225939 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.534C>T (p.Leu178=) SNV Likely benign 239674 rs749329370 5:226075-226075 5:225960-225960 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1356C>T (p.Leu452=) SNV Likely benign 387152 rs748496836 5:236638-236638 5:236523-236523 MTC020 Mitochondrial Complex Ii Deficiency SDHAF1 NM_001042631.2(SDHAF1):c.*156G>T SNV Likely benign 328900 rs115204084 19:36486680-36486680 19:35995778-35995778 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.57C>G (p.Ala19=) SNV Likely benign 252901 rs749948037 5:218527-218527 5:218412-218412 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_001294332.1(SDHA):c.-115T>C SNV Likely benign 353197 rs2303741 5:218356-218356 5:218241-218241 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_001294332.1(SDHA):c.-84dup duplication Likely benign 353198 rs35805262 5:218381-218382 5:218266-218267 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.313-4C>T SNV Likely benign 709760 5:225530-225530 5:225415-225415 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.622-4T>C SNV Likely benign 712539 5:228296-228296 5:228181-228181 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.622-8del deletion Likely benign 733171 5:228290-228290 5:228175-228175 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.46C>T (p.Leu16=) SNV Likely benign 745215 5:218516-218516 5:218401-218401 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.673C>T (p.Leu225=) SNV Likely benign 748167 5:228351-228351 5:228236-228236 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.675G>C (p.Leu225=) SNV Likely benign 749075 5:228353-228353 5:228238-228238 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1126C>T (p.Leu376=) SNV Likely benign 750046 5:235320-235320 5:235205-235205 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1173T>C (p.Ala391=) SNV Likely benign 741883 5:235367-235367 5:235252-235252 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1377C>T (p.Asp459=) SNV Likely benign 747878 5:236659-236659 5:236544-236544 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1596G>A (p.Leu532=) SNV Likely benign 749174 5:251151-251151 5:251036-251036 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1065-5A>G SNV Likely benign 746242 5:235254-235254 5:235139-235139 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.19C>T (p.Leu7=) SNV Likely benign 765006 5:218489-218489 5:218374-218374 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.537G>A (p.Lys179=) SNV Likely benign 760481 5:226078-226078 5:225963-225963 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.573T>C (p.Cys191=) SNV Likely benign 762544 5:226114-226114 5:225999-225999 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.783C>T (p.Arg261=) SNV Likely benign 753232 5:231003-231003 5:230888-230888 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1551+7G>A SNV Likely benign 756211 5:240598-240598 5:240483-240483 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1433-10T>C SNV Likely benign 767132 5:240463-240463 5:240348-240348 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.622-7C>T SNV Likely benign 772406 5:228293-228293 5:228178-228178 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.6G>A (p.Ser2=) SNV Likely benign 793653 5:218476-218476 5:218361-218361 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.249A>G (p.Ala83=) SNV Likely benign 793426 5:224573-224573 5:224458-224458 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.486A>G (p.Arg162=) SNV Likely benign 795293 5:226027-226027 5:225912-225912 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.846G>A (p.Arg282=) SNV Likely benign 797962 5:231066-231066 5:230951-230951 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1092C>G (p.Val364=) SNV Likely benign 793814 5:235286-235286 5:235171-235171 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1989C>G (p.Ser663=) SNV Likely benign 796391 5:256529-256529 5:256414-256414 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1552-7G>T SNV Likely benign 800149 5:251100-251100 5:250985-250985 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1663+7A>G SNV Likely benign 794818 5:251225-251225 5:251110-251110 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.895+8A>G SNV Likely benign 701353 5:231123-231123 5:231008-231008 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.552G>A (p.Gly184=) SNV Likely benign 702507 5:226093-226093 5:225978-225978 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.795C>T (p.Ser265=) SNV Likely benign 707123 5:231015-231015 5:230900-230900 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.852C>A (p.Gly284=) SNV Likely benign 703047 5:231072-231072 5:230957-230957 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.918C>T (p.Leu306=) SNV Likely benign 706963 5:233614-233614 5:233499-233499 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1119A>C (p.Pro373=) SNV Likely benign 702691 5:235313-235313 5:235198-235198 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1146C>A (p.Gly382=) SNV Likely benign 702902 5:235340-235340 5:235225-235225 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1197G>T (p.Pro399=) SNV Likely benign 706737 5:235391-235391 5:235276-235276 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1664-4C>A SNV Likely benign 702206 5:251449-251449 5:251334-251334 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1572C>T (p.Ala524=) SNV Likely benign 774756 5:251127-251127 5:251012-251012 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1692G>A (p.Glu564=) SNV Likely benign 772745 5:251481-251481 5:251366-251366 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.354C>T (p.Asn118=) SNV Likely benign 790876 5:225575-225575 5:225460-225460 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.585G>C (p.Arg195=) SNV Likely benign 700677 5:226126-226126 5:226011-226011 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.687G>A (p.Gly229=) SNV Likely benign 698079 5:228365-228365 5:228250-228250 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.999C>T (p.Val333=) SNV Likely benign 699654 5:233695-233695 5:233580-233580 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1119A>G (p.Pro373=) SNV Likely benign 699075 5:235313-235313 5:235198-235198 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1140G>C (p.Leu380=) SNV Likely benign 702130 5:235334-235334 5:235219-235219 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.789C>T (p.Tyr263=) SNV Likely benign 539696 rs1553998616 5:231009-231009 5:230894-230894 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1443C>A (p.Val481=) SNV Likely benign 539694 rs751871185 5:240483-240483 5:240368-240368 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1989C>T (p.Ser663=) SNV Likely benign 539692 rs1554002913 5:256529-256529 5:256414-256414 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1794+8T>G SNV Likely benign 539699 rs1050394308 5:251591-251591 5:251476-251476 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1812C>T (p.Tyr604=) SNV Likely benign 539697 rs1436919553 5:254525-254525 5:254410-254410 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1203T>C (p.Pro401=) SNV Likely benign 539706 rs1553999484 5:235397-235397 5:235282-235282 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1261-5C>A SNV Likely benign 539703 rs751471707 5:236538-236538 5:236423-236423 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.546G>A (p.Lys182=) SNV Likely benign 539708 rs757707693 5:226087-226087 5:225972-225972 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.162G>A (p.Gln54=) SNV Likely benign 539691 rs1468436658 5:224486-224486 5:224371-224371 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1260+8T>A SNV Likely benign 539701 rs1325588204 5:235462-235462 5:235347-235347 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.64-10G>A SNV Likely benign 539698 rs1553997159 5:223587-223587 5:223472-223472 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1893C>T (p.Asp631=) SNV Likely benign 539704 rs1364764796 5:254606-254606 5:254491-254491 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1782G>A (p.Arg594=) SNV Likely benign 539693 rs751329013 5:251571-251571 5:251456-251456 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1599A>G (p.Gln533=) SNV Likely benign 472343 rs1407806818 5:251154-251154 5:251039-251039 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1305G>C (p.Leu435=) SNV Likely benign 472320 rs35964044 5:236587-236587 5:236472-236472 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1308C>T (p.Tyr436=) SNV Likely benign 472321 rs762494024 5:236590-236590 5:236475-236475 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1857G>A (p.Glu619=) SNV Likely benign 472362 rs1247081812 5:254570-254570 5:254455-254455 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1923T>C (p.Tyr641=) SNV Likely benign 472373 rs1444319863 5:256463-256463 5:256348-256348 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1929C>T (p.Pro643=) SNV Likely benign 472375 rs761201589 5:256469-256469 5:256354-256354 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.150+9A>G SNV Likely benign 472336 rs1553997201 5:223692-223692 5:223577-223577 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.831G>A (p.Thr277=) SNV Likely benign 472408 rs1470632146 5:231051-231051 5:230936-230936 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1233C>A (p.Gly411=) SNV Likely benign 472311 rs376530094 5:235427-235427 5:235312-235312 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1272C>T (p.His424=) SNV Likely benign 472316 rs754805626 5:236554-236554 5:236439-236439 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1206C>T (p.Val402=) SNV Likely benign 472307 rs1183961449 5:235400-235400 5:235285-235285 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1410C>T (p.Ser470=) SNV Likely benign 472329 rs556476038 5:236692-236692 5:236577-236577 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1422A>G (p.Ser474=) SNV Likely benign 472330 rs201868424 5:236704-236704 5:236589-236589 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1428G>A (p.Arg476=) SNV Likely benign 472331 rs377415114 5:236710-236710 5:236595-236595 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1261-4A>T SNV Likely benign 472315 rs1553999703 5:236539-236539 5:236424-236424 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1290G>A (p.Gln430=) SNV Likely benign 472318 rs772728779 5:236572-236572 5:236457-236457 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1065-4C>A SNV Likely benign 472299 rs575007678 5:235255-235255 5:235140-235140 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1071T>C (p.Cys357=) SNV Likely benign 472298 rs1553999410 5:235265-235265 5:235150-235150 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1572C>G (p.Ala524=) SNV Likely benign 472341 rs185679709 5:251127-251127 5:251012-251012 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1026G>A (p.Val342=) SNV Likely benign 472294 rs1060505004 5:233722-233722 5:233607-233607 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.969C>A (p.Gly323=) SNV Likely benign 472421 rs142849100 5:233665-233665 5:233550-233550 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.822C>A (p.Gly274=) SNV Likely benign 472404 rs34771391 5:231042-231042 5:230927-230927 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.834C>T (p.Ala278=) SNV Likely benign 472409 rs1553998649 5:231054-231054 5:230939-230939 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.852C>G (p.Gly284=) SNV Likely benign 472411 rs552108762 5:231072-231072 5:230957-230957 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.477G>A (p.Pro159=) SNV Likely benign 472394 rs771741537 5:226018-226018 5:225903-225903 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.336G>C (p.Gly112=) SNV Likely benign 472383 rs375645919 5:225557-225557 5:225442-225442 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.18C>A (p.Gly6=) SNV Likely benign 472369 rs775847689 5:218488-218488 5:218373-218373 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.123G>A (p.Lys41=) SNV Likely benign 472313 rs1553997185 5:223656-223656 5:223541-223541 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1908+9G>A SNV Likely benign 472371 rs767578208 5:254630-254630 5:254515-254515 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1311C>T (p.Ala437=) SNV Likely benign 486364 rs377506772 5:236593-236593 5:236478-236478 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1323C>T (p.Ala441=) SNV Likely benign 486374 rs751561561 5:236605-236605 5:236490-236490 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1350C>T (p.Asn450=) SNV Likely benign 486368 rs533902090 5:236632-236632 5:236517-236517 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1656C>T (p.Phe552=) SNV Likely benign 486393 rs1170030451 5:251211-251211 5:251096-251096 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.705C>T (p.Ile235=) SNV Likely benign 486370 rs549892491 5:228383-228383 5:228268-228268 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1353C>G (p.Arg451=) SNV Likely benign 486366 rs555342133 5:236635-236635 5:236520-236520 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1740C>T (p.Tyr580=) SNV Likely benign 486358 rs3181540 5:251529-251529 5:251414-251414 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.453C>G (p.Val151=) SNV Likely benign 539707 rs138917116 5:225674-225674 5:225559-225559 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.477G>T (p.Pro159=) SNV Likely benign 539702 rs771741537 5:226018-226018 5:225903-225903 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.444C>T (p.Ala148=) SNV Likely benign 486361 rs367618662 5:225665-225665 5:225550-225550 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.447C>T (p.Ala149=) SNV Likely benign 480785 rs752187837 5:225668-225668 5:225553-225553 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1038C>T (p.Ser346=) SNV Likely benign 486372 rs1041949 5:233734-233734 5:233619-233619 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1974G>A (p.Pro658=) SNV Likely benign 472379 rs1042446 5:256514-256514 5:256399-256399 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1155G>A (p.Glu385=) SNV Likely benign 486385 rs765356526 5:235349-235349 5:235234-235234 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.858T>A (p.Pro286=) SNV Likely benign 480786 rs1553998661 5:231078-231078 5:230963-230963 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1707G>A (p.Gln569=) SNV Likely benign 486379 rs959934068 5:251496-251496 5:251381-251381 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1773G>A (p.Ala591=) SNV Likely benign 472356 rs555028212 5:251562-251562 5:251447-251447 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1806T>C (p.Asp602=) SNV Likely benign 472360 rs1554002427 5:254519-254519 5:254404-254404 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1926A>G (p.Arg642=) SNV Likely benign 472374 rs1554002873 5:256466-256466 5:256351-256351 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1935C>T (p.Ile645=) SNV Likely benign 472376 rs762128553 5:256475-256475 5:256360-256360 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1476T>C (p.Ser492=) SNV Likely benign 472335 rs1376968004 5:240516-240516 5:240401-240401 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1524A>G (p.Thr508=) SNV Likely benign 472338 rs1356814435 5:240564-240564 5:240449-240449 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1378C>T (p.Leu460=) SNV Likely benign 472326 rs760686493 5:236660-236660 5:236545-236545 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.954C>T (p.Leu318=) SNV Likely benign 486373 rs1412623947 5:233650-233650 5:233535-233535 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.9G>T (p.Gly3=) SNV Likely benign 486386 rs1252447154 5:218479-218479 5:218364-218364 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.390C>T (p.Ser130=) SNV Likely benign 486377 rs748976493 5:225611-225611 5:225496-225496 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.516A>G (p.Ala172=) SNV Likely benign 417231 rs181278759 5:226057-226057 5:225942-225942 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.12C>T (p.Val4=) SNV Likely benign 417236 rs749406988 5:218482-218482 5:218367-218367 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.873G>A (p.Glu291=) SNV Likely benign 417261 rs570393010 5:231093-231093 5:230978-230978 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1140G>A (p.Leu380=) SNV Likely benign 417234 rs146348714 5:235334-235334 5:235219-235219 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1197G>A (p.Pro399=) SNV Likely benign 417232 rs771919335 5:235391-235391 5:235276-235276 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1260+9G>T SNV Likely benign 417239 rs1060505003 5:235463-235463 5:235348-235348 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.372C>T (p.Tyr124=) SNV Likely benign 417233 rs754393360 5:225593-225593 5:225478-225478 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.597G>A (p.Ser199=) SNV Likely benign 417242 rs141874250 5:226138-226138 5:226023-226023 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.598C>T (p.Leu200=) SNV Likely benign 417260 rs764307917 5:226139-226139 5:226024-226024 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.627G>A (p.Leu209=) SNV Likely benign 417230 rs149821224 5:228305-228305 5:228190-228190 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1026G>T (p.Val342=) SNV Likely benign 417243 rs1060505004 5:233722-233722 5:233607-233607 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1335G>T (p.Ser445=) SNV Likely benign 417269 rs200223188 5:236617-236617 5:236502-236502 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1794+8T>A SNV Likely benign 417238 rs1050394308 5:251591-251591 5:251476-251476 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1773G>C (p.Ala591=) SNV Likely benign 417247 rs555028212 5:251562-251562 5:251447-251447 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1794+10C>T SNV Likely benign 417266 rs1060505010 5:251593-251593 5:251478-251478 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1827C>A (p.Pro609=) SNV Likely benign 417249 rs1060505006 5:254540-254540 5:254425-254425 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.378C>T (p.Thr126=) SNV Likely benign 417256 rs756039268 5:225599-225599 5:225484-225484 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.408G>A (p.Gln136=) SNV Likely benign 417248 rs190477316 5:225629-225629 5:225514-225514 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1971C>T (p.Val657=) SNV Likely benign 417258 rs746083858 5:256511-256511 5:256396-256396 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1176C>T (p.Gly392=) SNV Likely benign 412392 rs1041950 5:235370-235370 5:235255-235255 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1233C>T (p.Gly411=) SNV Likely benign 417259 rs376530094 5:235427-235427 5:235312-235312 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1064+10A>G SNV Likely benign 417265 rs773168516 5:233770-233770 5:233655-233655 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1332C>G (p.Ala444=) SNV Likely benign 417267 rs1060505011 5:236614-236614 5:236499-236499 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1419G>A (p.Glu473=) SNV Likely benign 417251 rs898003329 5:236701-236701 5:236586-236586 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1611G>A (p.Gly537=) SNV Likely benign 417263 rs1060505009 5:251166-251166 5:251051-251051 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1629T>C (p.Tyr543=) SNV Likely benign 417255 rs747249998 5:251184-251184 5:251069-251069 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1644C>T (p.His548=) SNV Likely benign 417244 rs1126427 5:251199-251199 5:251084-251084 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1344T>C (p.Gly448=) SNV Likely benign 417254 rs551497992 5:236626-236626 5:236511-236511 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1461C>T (p.Asn487=) SNV Likely benign 417241 rs187540602 5:240501-240501 5:240386-240386 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1257G>A (p.Gly419=) SNV Likely benign 417270 rs753410011 5:235451-235451 5:235336-235336 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.40C>A (p.Arg14=) SNV Likely benign 472386 rs1192077362 5:218510-218510 5:218395-218395 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1950C>T (p.Asn650=) SNV Likely benign 417237 rs1042430 5:256490-256490 5:256375-256375 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1737C>T (p.Ile579=) SNV Likely benign 417240 rs201454617 5:251526-251526 5:251411-251411 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.300T>C (p.Thr100=) SNV Likely benign 417264 rs771662494 5:224624-224624 5:224509-224509 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.801G>A (p.Thr267=) SNV Likely benign 417228 rs543630901 5:231021-231021 5:230906-230906 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.621+9G>A SNV Likely benign 417245 rs1060505005 5:226171-226171 5:226056-226056 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.456+10G>A SNV Likely benign 472391 rs781436294 5:225687-225687 5:225572-225572 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.457-4A>G SNV Likely benign 472392 rs770052391 5:225994-225994 5:225879-225879 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.896-4G>A SNV Likely benign 472415 rs555881974 5:233588-233588 5:233473-233473 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.957T>C (p.Ile319=) SNV Likely benign 472420 rs757167466 5:233653-233653 5:233538-233538 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1968C>T (p.Thr656=) SNV Likely benign 472378 rs3211499 5:256508-256508 5:256393-256393 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1614A>G (p.Lys538=) SNV Likely benign 472345 rs1554001847 5:251169-251169 5:251054-251054 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.990C>T (p.Tyr330=) SNV Likely benign 472423 rs370547766 5:233686-233686 5:233571-233571 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.999C>G (p.Val333=) SNV Likely benign 472425 rs149556555 5:233695-233695 5:233580-233580 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.894A>G (p.Thr298=) SNV Likely benign 472414 rs774584410 5:231114-231114 5:230999-230999 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.942G>A (p.Glu314=) SNV Likely benign 472418 rs1553998977 5:233638-233638 5:233523-233523 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.825C>T (p.Asp275=) SNV Likely benign 472406 rs1237373391 5:231045-231045 5:230930-230930 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.163T>C (p.Tyr55His) SNV Benign/Likely benign 353201 rs142926807 5:224487-224487 5:224372-224372 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1908+15C>T SNV Benign/Likely benign 259245 rs34504623 5:254636-254636 5:254521-254521 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.-4A>G SNV Benign/Likely benign 259243 rs377134185 5:218467-218467 5:218352-218352 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1569T>C (p.Ala523=) SNV Benign/Likely benign 387333 rs150192376 5:251124-251124 5:251009-251009 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1089C>T (p.His363=) SNV Benign/Likely benign 388758 rs368488126 5:235283-235283 5:235168-235168 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.113A>T (p.Asp38Val) SNV Benign/Likely benign 224957 rs34635677 5:223646-223646 5:223531-223531 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1974G>C (p.Pro658=) SNV Benign/Likely benign 252907 rs1042446 5:256514-256514 5:256399-256399 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.146A>G (p.Asp49Gly) SNV Benign/Likely benign 141767 rs80207011 5:223679-223679 5:223564-223564 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1776T>C (p.His592=) SNV Benign/Likely benign 141824 rs1126538 5:251565-251565 5:251450-251450 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1523C>T (p.Thr508Ile) SNV Benign/Likely benign 39585 rs151266052 5:240563-240563 5:240448-240448 MTC020 Mitochondrial Complex Ii Deficiency SDHAF1 NM_001042631.2(SDHAF1):c.333C>G (p.Arg111=) SNV Benign/Likely benign 139089 rs76336581 19:36486509-36486509 19:35995607-35995607 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.550G>A (p.Gly184Arg) SNV Benign/Likely benign 221062 rs148246073 5:226091-226091 5:225976-225976 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1911C>T (p.Val637=) SNV Benign/Likely benign 224955 rs11557098 5:256451-256451 5:256336-256336 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1886A>T (p.Tyr629Phe) SNV Benign/Likely benign 224949 rs6960 5:254599-254599 5:254484-254484 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1664-8G>A SNV Benign/Likely benign 130275 rs199790689 5:251445-251445 5:251330-251330 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1680G>A (p.Thr560=) SNV Benign/Likely benign 130276 rs1139449 5:251469-251469 5:251354-251354 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1752A>G (p.Ala584=) SNV Benign 130277 rs13070 5:251541-251541 5:251426-251426 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1932G>A (p.Val644=) SNV Benign 130278 rs6961 5:256472-256472 5:256357-256357 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1969G>A (p.Val657Ile) SNV Benign 130279 rs6962 5:256509-256509 5:256394-256394 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.309A>G (p.Ala103=) SNV Benign 130280 rs1139424 5:224633-224633 5:224518-224518 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.619A>C (p.Arg207=) SNV Benign 130281 rs6555055 5:226160-226160 5:226045-226045 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.684T>C (p.Asn228=) SNV Benign 130282 rs2115272 5:228362-228362 5:228247-228247 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.891T>C (p.Pro297=) SNV Benign 130283 rs1126417 5:231111-231111 5:230996-230996 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1038C>G (p.Ser346=) SNV Benign 130273 rs1041949 5:233734-233734 5:233619-233619 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1170C>T (p.Phe390=) SNV Benign 130274 rs35277230 5:235364-235364 5:235249-235249 MTC020 Mitochondrial Complex Ii Deficiency SDHAF1 NM_001042631.2(SDHAF1):c.*622A>G SNV Benign 328902 rs7925 19:36487146-36487146 19:35996244-35996244 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.771-11A>G SNV Benign 259248 rs2288461 5:230980-230980 5:230865-230865 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1396G>A (p.Ala466Thr) SNV Benign 472327 rs111387770 5:236678-236678 5:236563-236563 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1367C>T (p.Ser456Leu) SNV Benign 539695 rs76896145 5:236649-236649 5:236534-236534 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1908+85G>A SNV Benign 802106 5:254706-254706 5:254591-254591 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.1908+90A>G SNV Benign 802107 5:254711-254711 5:254596-254596 MTC020 Mitochondrial Complex Ii Deficiency SDHA NM_004168.4(SDHA):c.328G>C (p.Ala110Pro) SNV no interpretation for the single variant 242609 rs786205209 5:225549-225549 5:225434-225434 MTC020 Mitochondrial Complex Ii Deficiency BCS1L NM_001079866.2(BCS1L):c.830G>A (p.Ser277Asn) SNV Pathogenic 6163 rs121908571 2:219527343-219527343 2:218662620-218662620 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.464G>C (p.Arg155Pro) SNV Pathogenic 6165 rs121908573 2:219526485-219526485 2:218661762-218661762 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.1057G>A (p.Val353Met) SNV Pathogenic 6166 rs121908574 2:219527906-219527906 2:218663183-218663183 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly) SNV Pathogenic 6167 rs28937590 2:219525942-219525942 2:218661219-218661219 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.133C>T (p.Arg45Cys) SNV Pathogenic 6168 rs121908575 2:219525843-219525843 2:218661120-218661120 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 NDUFS7 NM_024407.5(NDUFS7):c.364G>A (p.Val122Met) SNV Pathogenic 7681 rs104894705 19:1391005-1391005 19:1391006-1391006 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 NDUFS7 NM_024407.5(NDUFS7):c.434G>A (p.Arg145His) SNV Pathogenic 7682 rs121434479 19:1391143-1391143 19:1391144-1391144 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 NDUFS7 NM_024407.5(NDUFS7):c.17-1167C>G SNV Pathogenic 7683 rs1568985256 19:1386643-1386643 19:1386644-1386644 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 UQCRB UQCRB, 4-BP DEL, NT338 deletion Pathogenic 12299 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.148A>G (p.Thr50Ala) SNV Pathogenic 6173 rs121908580 2:219525858-219525858 2:218661135-218661135 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter) SNV Pathogenic 374395 rs776838028 2:219526619-219526619 2:218661896-218661896 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) SNV Pathogenic/Likely pathogenic 6169 rs121908576 2:219525876-219525876 2:218661153-218661153 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.269G>A (p.Arg90His) SNV Likely pathogenic 214165 rs747956412 2:219525979-219525979 2:218661256-218661256 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile) SNV Conflicting interpretations of pathogenicity 214159 rs148278887 2:219526634-219526634 2:218661911-218661911 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.258T>C (p.His86=) SNV Conflicting interpretations of pathogenicity 334357 rs886055627 2:219525968-219525968 2:218661245-218661245 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.-14G>A SNV Conflicting interpretations of pathogenicity 334355 rs367721351 2:219525697-219525697 2:218660974-218660974 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.768C>G (p.Leu256=) SNV Conflicting interpretations of pathogenicity 334359 rs781666793 2:219527281-219527281 2:218662558-218662558 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.822G>A (p.Pro274=) SNV Conflicting interpretations of pathogenicity 334360 rs112329020 2:219527335-219527335 2:218662612-218662612 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 TTC19 NM_017775.3(TTC19):c.-107A>T SNV Conflicting interpretations of pathogenicity 137771 rs79724115 17:15903056-15903056 17:15999742-15999742 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.-43G>A SNV Conflicting interpretations of pathogenicity 214155 rs145989550 2:219525668-219525668 2:218660945-218660945 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.126A>G (p.Ala42=) SNV Conflicting interpretations of pathogenicity 214156 rs144200704 2:219525836-219525836 2:218661113-218661113 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys) SNV Conflicting interpretations of pathogenicity 214160 rs377025174 2:219525915-219525915 2:218661192-218661192 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.201C>T (p.Leu67=) SNV Conflicting interpretations of pathogenicity 290322 rs142540289 2:219525911-219525911 2:218661188-218661188 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys) SNV Conflicting interpretations of pathogenicity 6171 rs121908578 2:219526571-219526571 2:218661848-218661848 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys) SNV Conflicting interpretations of pathogenicity 554974 rs140812286 2:219525927-219525927 2:218661204-218661204 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys) SNV Conflicting interpretations of pathogenicity 625207 rs369691608 2:219525978-219525978 2:218661255-218661255 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile) SNV Conflicting interpretations of pathogenicity 666656 2:219527716-219527716 2:218662993-218662993 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys) SNV Conflicting interpretations of pathogenicity 6174 rs144885874 2:219526568-219526568 2:218661845-218661845 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 TTC19 NM_001042697.2(ZSWIM7):c.76+10C>G SNV Conflicting interpretations of pathogenicity 137769 rs200004394 17:15902823-15902823 17:15999509-15999509 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.171C>T (p.Asp57=) SNV Conflicting interpretations of pathogenicity 380986 rs756932413 2:219525881-219525881 2:218661158-218661158 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.771G>A (p.Thr257=) SNV Conflicting interpretations of pathogenicity 384871 rs148302981 2:219527284-219527284 2:218662561-218662561 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 TTC19 NM_001042697.2(ZSWIM7):c.-77G>A SNV Conflicting interpretations of pathogenicity 321937 rs753100200 17:15902985-15902985 17:15999671-15999671 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 TTC19 NM_017775.3(TTC19):c.-141G>A SNV Uncertain significance 321938 rs886052625 17:15903022-15903022 17:15999708-15999708 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 TTC19 NM_017775.4(TTC19):c.*1317_*1324dup duplication Uncertain significance 321974 rs59177775 17:15932132-15932133 17:16028818-16028819 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 TTC19 NM_017775.4(TTC19):c.*1320_*1324dup duplication Uncertain significance 321973 rs59177775 17:15932132-15932133 17:16028818-16028819 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 TTC19 NM_017775.4(TTC19):c.*1324dup duplication Uncertain significance 321971 rs59177775 17:15932132-15932133 17:16028818-16028819 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 TTC19 NM_017775.4(TTC19):c.*437del deletion Uncertain significance 321956 rs886052629 17:15931273-15931273 17:16027959-16027959 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 TTC19 NM_017775.4(TTC19):c.*670dup duplication Uncertain significance 321959 rs764835326 17:15931505-15931506 17:16028191-16028192 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 TTC19 NM_017775.4(TTC19):c.*1321_*1324dup duplication Uncertain significance 321976 rs59177775 17:15932132-15932133 17:16028818-16028819 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 TTC19 NM_017775.4(TTC19):c.*1323_*1324dup duplication Uncertain significance 321972 rs59177775 17:15932132-15932133 17:16028818-16028819 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 TTC19 NM_017775.4(TTC19):c.*1324del deletion Uncertain significance 321975 rs59177775 17:15932133-15932133 17:16028819-16028819 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 TTC19 NM_001042697.2(ZSWIM7):c.76+122C>T SNV Uncertain significance 321933 rs61747574 17:15902711-15902711 17:15999397-15999397 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 TTC19 NM_017775.4(TTC19):c.1056_1058del (p.Lys352_Asp353delinsAsn) deletion Uncertain significance 321950 rs755549162 17:15930748-15930750 17:16027434-16027436 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 UQCRQ NM_014402.5(UQCRQ):c.-31del deletion Uncertain significance 350837 rs886059916 5:132202361-132202361 5:132866669-132866669 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 TTC19 NM_001042697.2(ZSWIM7):c.74G>A (p.Arg25Gln) SNV Uncertain significance 321935 rs544159811 17:15902835-15902835 17:15999521-15999521 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 TTC19 NM_001042697.2(ZSWIM7):c.76+114A>G SNV Uncertain significance 321934 rs886052624 17:15902719-15902719 17:15999405-15999405 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 TTC19 NM_001042697.2(ZSWIM7):c.-65G>A SNV Uncertain significance 321936 rs199843558 17:15902973-15902973 17:15999659-15999659 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 TTC19 NM_017775.3(TTC19):c.-83C>T SNV Uncertain significance 321939 rs368411974 17:15903080-15903080 17:15999766-15999766 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 TTC19 NM_017775.4(TTC19):c.*1296_*1298dup duplication Uncertain significance 321970 rs886052636 17:15932131-15932132 17:16028817-16028818 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 TTC19 NM_017775.4(TTC19):c.*1325delinsAAAAAAAAAA indel Uncertain significance 321980 rs886052641 17:15932161-15932161 17:16028847-16028847 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 TTC19 NM_006311.4(NCOR1):c.*2888A>G SNV Uncertain significance 321985 rs189970612 17:15932722-15932722 17:16029408-16029408 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 NDUFS7 NM_024407.5(NDUFS7):c.415G>A (p.Asp139Asn) SNV Uncertain significance 689475 19:1391124-1391124 19:1391125-1391125 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.-85G>A SNV Uncertain significance 898620 2:219524431-219524431 2:218659708-218659708 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.566A>G (p.Asn189Ser) SNV Uncertain significance 895700 2:219526587-219526587 2:218661864-218661864 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.321-12G>A SNV Uncertain significance 334358 rs776363896 2:219526117-219526117 2:218661394-218661394 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.-53G>T SNV Uncertain significance 334352 rs886055624 2:219524463-219524463 2:218659740-218659740 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.-50+458T>G SNV Uncertain significance 334354 rs188224298 2:219524924-219524924 2:218660201-218660201 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.-50+425T>C SNV Uncertain significance 334353 rs886055625 2:219524891-219524891 2:218660168-218660168 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.112C>G (p.Leu38Val) SNV Uncertain significance 334356 rs886055626 2:219525822-219525822 2:218661099-218661099 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 TTC19 NM_017775.3(TTC19):c.-73G>A SNV Uncertain significance 281909 rs149555498 17:15903090-15903090 17:15999776-15999776 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 UQCRQ NM_014402.5(UQCRQ):c.*1175del deletion Likely benign 350862 rs67367845 5:132204448-132204448 5:132868756-132868756 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 TTC19 NM_017775.4(TTC19):c.*1236_*1237dup duplication Likely benign 321969 rs61349729 17:15932071-15932072 17:16028757-16028758 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 TTC19 NM_001042697.2(ZSWIM7):c.76+17G>T SNV Benign/Likely benign 137768 rs60636875 17:15902816-15902816 17:15999502-15999502 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 TTC19 NM_001042697.2(ZSWIM7):c.-86G>C SNV Benign/Likely benign 137770 rs73276077 17:15902994-15902994 17:15999680-15999680 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn) SNV Benign/Likely benign 136502 rs58447305 2:219526649-219526649 2:218661926-218661926 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.996C>T (p.Asn332=) SNV Benign 136503 rs33946522 2:219527712-219527712 2:218662989-218662989 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 BCS1L NM_001079866.2(BCS1L):c.1017T>C (p.Pro339=) SNV Benign 136505 rs35843327 2:219527866-219527866 2:218663143-218663143 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 UQCRFS1 NM_006003.3(UQCRFS1):c.215-1G>C SNV Pathogenic 619297 rs1568344751 19:29699066-29699066 19:29208159-29208159 MTC202 Mitochondrial Complex Iii Deficiency, Nuclear Type 10 UQCRFS1 NM_006003.3(UQCRFS1):c.610C>T (p.Arg204Ter) SNV Pathogenic 619499 rs1242465339 19:29698670-29698670 19:29207763-29207763 MTC202 Mitochondrial Complex Iii Deficiency, Nuclear Type 10 UQCRFS1 NM_006003.3(UQCRFS1):c.41T>A (p.Val14Asp) SNV Pathogenic 619501 rs1568346416 19:29703985-29703985 19:29213078-29213078 MTC202 Mitochondrial Complex Iii Deficiency, Nuclear Type 10 TTC19 NM_017775.4(TTC19):c.817G>T (p.Glu273Ter) SNV Pathogenic 437076 rs1555530551 17:15928471-15928471 17:16025157-16025157 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.656T>G (p.Leu219Ter) SNV Pathogenic 31073 rs747166010 17:15909862-15909862 17:16006548-16006548 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.517C>T (p.Gln173Ter) SNV Pathogenic 31074 rs387907094 17:15907199-15907199 17:16003885-16003885 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.601_604del (p.Gly201fs) deletion Pathogenic 102437 rs794726691 17:15909804-15909807 17:16006490-16006493 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 TTC19, TRP186TER undetermined variant Pathogenic 102438 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 TTC19, 4-BP DEL, 964GGCT deletion Pathogenic 102439 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.829C>T (p.Gln277Ter) SNV Pathogenic 102440 rs794726692 17:15928483-15928483 17:16025169-16025169 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.554T>C (p.Leu185Pro) SNV Likely pathogenic 437427 rs1187416161 17:15907549-15907549 17:16004235-16004235 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.581+1_581+5del deletion Likely pathogenic 873487 17:15907575-15907579 17:16004261-16004265 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.122A>G (p.Gln41Arg) SNV Conflicting interpretations of pathogenicity 516796 rs1462593526 17:15903284-15903284 17:15999970-15999970 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.313-4T>C SNV Conflicting interpretations of pathogenicity 509771 rs374666326 17:15905225-15905225 17:16001911-16001911 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.1041A>G (p.Gln347=) SNV Conflicting interpretations of pathogenicity 137766 rs77955179 17:15930734-15930734 17:16027420-16027420 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.-1C>T SNV Conflicting interpretations of pathogenicity 137773 rs2302414 17:15903162-15903162 17:15999848-15999848 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.820A>G (p.Arg274Gly) SNV Conflicting interpretations of pathogenicity 215304 rs147111211 17:15928474-15928474 17:16025160-16025160 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.1004C>T (p.Thr335Ile) SNV Conflicting interpretations of pathogenicity 215297 rs78193493 17:15930697-15930697 17:16027383-16027383 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.146C>T (p.Pro49Leu) SNV Conflicting interpretations of pathogenicity 321941 rs537063695 17:15903308-15903308 17:15999994-15999994 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.758C>T (p.Pro253Leu) SNV Conflicting interpretations of pathogenicity 321947 rs78882347 17:15928412-15928412 17:16025098-16025098 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.25C>T (p.Leu9=) SNV Conflicting interpretations of pathogenicity 321940 rs568088809 17:15903187-15903187 17:15999873-15999873 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.155G>A (p.Arg52Gln) SNV Uncertain significance 321942 rs886052626 17:15903317-15903317 17:16000003-16000003 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.364G>A (p.Ala122Thr) SNV Uncertain significance 321944 rs377441281 17:15905280-15905280 17:16001966-16001966 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.439T>C (p.Phe147Leu) SNV Uncertain significance 321946 rs765464563 17:15906122-15906122 17:16002808-16002808 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.994+3A>T SNV Uncertain significance 321949 rs189614332 17:15930019-15930019 17:16026705-16026705 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*746C>G SNV Uncertain significance 321962 rs143866104 17:15931582-15931582 17:16028268-16028268 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*1008G>A SNV Uncertain significance 321966 rs886052633 17:15931844-15931844 17:16028530-16028530 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*1318A>C SNV Uncertain significance 321977 rs886052638 17:15932154-15932154 17:16028840-16028840 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*1320A>C SNV Uncertain significance 321978 rs886052639 17:15932156-15932156 17:16028842-16028842 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*1562A>G SNV Uncertain significance 321982 rs749875042 17:15932398-15932398 17:16029084-16029084 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*1738T>C SNV Uncertain significance 321983 rs111241994 17:15932574-15932574 17:16029260-16029260 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*301G>A SNV Uncertain significance 321954 rs116946711 17:15931137-15931137 17:16027823-16027823 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*335C>T SNV Uncertain significance 321955 rs117087989 17:15931171-15931171 17:16027857-16027857 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*1099C>T SNV Uncertain significance 321967 rs886052634 17:15931935-15931935 17:16028621-16028621 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*1321A>C SNV Uncertain significance 321979 rs886052640 17:15932157-15932157 17:16028843-16028843 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.781G>A (p.Glu261Lys) SNV Uncertain significance 321948 rs755952117 17:15928435-15928435 17:16025121-16025121 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*297G>A SNV Uncertain significance 321953 rs886052628 17:15931133-15931133 17:16027819-16027819 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.421T>G (p.Leu141Val) SNV Uncertain significance 321945 rs755530528 17:15905337-15905337 17:16002023-16002023 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*578C>T SNV Uncertain significance 321957 rs188915420 17:15931414-15931414 17:16028100-16028100 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*27G>A SNV Uncertain significance 321951 rs150843177 17:15930863-15930863 17:16027549-16027549 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*676C>T SNV Uncertain significance 321960 rs886052631 17:15931512-15931512 17:16028198-16028198 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*753A>G SNV Uncertain significance 321963 rs886052632 17:15931589-15931589 17:16028275-16028275 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*1194T>A SNV Uncertain significance 321968 rs116722822 17:15932030-15932030 17:16028716-16028716 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.270C>G (p.Asp90Glu) SNV Uncertain significance 321943 rs757875189 17:15903517-15903517 17:16000203-16000203 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.612C>G (p.Phe204Leu) SNV Uncertain significance 215307 rs544027755 17:15909818-15909818 17:16006504-16006504 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.787G>T (p.Ala263Ser) SNV Uncertain significance 215302 rs141892030 17:15928441-15928441 17:16025127-16025127 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.581+4A>C SNV Uncertain significance 889256 17:15907580-15907580 17:16004266-16004266 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.677-6C>T SNV Uncertain significance 889257 17:15928325-15928325 17:16025011-16025011 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*1152C>T SNV Uncertain significance 890002 17:15931988-15931988 17:16028674-16028674 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*1169G>A SNV Uncertain significance 890003 17:15932005-15932005 17:16028691-16028691 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*1333A>G SNV Uncertain significance 890004 17:15932169-15932169 17:16028855-16028855 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*1464A>C SNV Uncertain significance 891559 17:15932300-15932300 17:16028986-16028986 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*1469G>A SNV Uncertain significance 891560 17:15932305-15932305 17:16028991-16028991 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*1496A>G SNV Uncertain significance 891561 17:15932332-15932332 17:16029018-16029018 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.766G>A (p.Ala256Thr) SNV Uncertain significance 547995 rs1042684635 17:15928420-15928420 17:16025106-16025106 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*258C>G SNV Uncertain significance 891501 17:15931094-15931094 17:16027780-16027780 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*536C>T SNV Uncertain significance 891749 17:15931372-15931372 17:16028058-16028058 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*834C>T SNV Uncertain significance 889318 17:15931670-15931670 17:16028356-16028356 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*999T>C SNV Uncertain significance 889319 17:15931835-15931835 17:16028521-16028521 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*1003C>T SNV Uncertain significance 889320 17:15931839-15931839 17:16028525-16028525 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.304C>G (p.Arg102Gly) SNV Uncertain significance 891678 17:15903551-15903551 17:16000237-16000237 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.371G>A (p.Arg124His) SNV Uncertain significance 891679 17:15905287-15905287 17:16001973-16001973 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.713T>C (p.Met238Thr) SNV Uncertain significance 889258 17:15928367-15928367 17:16025053-16025053 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.998G>A (p.Arg333Gln) SNV Uncertain significance 889941 17:15930691-15930691 17:16027377-16027377 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.1038G>A (p.Lys346=) SNV Uncertain significance 889942 17:15930731-15930731 17:16027417-16027417 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.1063A>G (p.Ile355Val) SNV Uncertain significance 889943 17:15930756-15930756 17:16027442-16027442 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*175A>C SNV Uncertain significance 891496 17:15931011-15931011 17:16027697-16027697 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*195A>G SNV Uncertain significance 891497 17:15931031-15931031 17:16027717-16027717 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*219C>T SNV Uncertain significance 891498 17:15931055-15931055 17:16027741-16027741 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*220G>A SNV Uncertain significance 891499 17:15931056-15931056 17:16027742-16027742 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*226T>C SNV Likely benign 891500 17:15931062-15931062 17:16027748-16027748 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*1589T>C SNV Likely benign 891562 17:15932425-15932425 17:16029111-16029111 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*600G>A SNV Likely benign 321958 rs73981413 17:15931436-15931436 17:16028122-16028122 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*709T>A SNV Likely benign 321961 rs11554356 17:15931545-15931545 17:16028231-16028231 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*1543A>G SNV Likely benign 321981 rs118174899 17:15932379-15932379 17:16029065-16029065 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*971G>A SNV Likely benign 321965 rs73981414 17:15931807-15931807 17:16028493-16028493 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*857G>A SNV Benign 321964 rs72821769 17:15931693-15931693 17:16028379-16028379 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*46T>C SNV Benign 321952 rs3744328 17:15930882-15930882 17:16027568-16027568 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*1791T>C SNV Benign 321984 rs9890012 17:15932627-15932627 17:16029313-16029313 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.573G>A (p.Ala191=) SNV Benign 137767 rs58517927 17:15907568-15907568 17:16004254-16004254 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.-15G>A SNV Benign 137772 rs73276080 17:15903148-15903148 17:15999834-15999834 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 TTC19 NM_017775.4(TTC19):c.*1012T>C SNV Benign 889321 17:15931848-15931848 17:16028534-16028534 MTC091 Mitochondrial Complex Iii Deficiency, Nuclear Type 2 UQCRB NM_006294.5(UQCRB):c.258+268G>A SNV Likely benign 811923 8:97243734-97243734 8:96231506-96231506 MTC089 Mitochondrial Complex Iii Deficiency, Nuclear Type 3 UQCRQ NM_014402.5(UQCRQ):c.134C>T (p.Ser45Phe) SNV Pathogenic 729 rs11544803 5:132202707-132202707 5:132867015-132867015 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.108C>G (p.Pro36=) SNV Conflicting interpretations of pathogenicity 137891 rs36093416 5:132202681-132202681 5:132866989-132866989 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.10G>A (p.Glu4Lys) SNV Conflicting interpretations of pathogenicity 215349 rs137995316 5:132202583-132202583 5:132866891-132866891 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.90C>T (p.Val30=) SNV Conflicting interpretations of pathogenicity 669826 5:132202663-132202663 5:132866971-132866971 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*18C>T SNV Conflicting interpretations of pathogenicity 350840 rs768723651 5:132203292-132203292 5:132867600-132867600 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*236C>G SNV Uncertain significance 350842 rs116229809 5:132203510-132203510 5:132867818-132867818 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*756C>T SNV Uncertain significance 350853 rs757790355 5:132204030-132204030 5:132868338-132868338 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*970A>C SNV Uncertain significance 350855 rs185184076 5:132204244-132204244 5:132868552-132868552 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*1204G>A SNV Uncertain significance 350863 rs116236652 5:132204478-132204478 5:132868786-132868786 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*979G>A SNV Uncertain significance 350857 rs536513933 5:132204253-132204253 5:132868561-132868561 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*1026C>G SNV Uncertain significance 350858 rs749663767 5:132204300-132204300 5:132868608-132868608 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*1086A>C SNV Uncertain significance 350861 rs886059919 5:132204360-132204360 5:132868668-132868668 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.-16C>T SNV Uncertain significance 904277 5:132202377-132202377 5:132866685-132866685 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*102T>C SNV Uncertain significance 904278 5:132203376-132203376 5:132867684-132867684 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*342C>T SNV Uncertain significance 905068 5:132203616-132203616 5:132867924-132867924 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*359G>T SNV Uncertain significance 905069 5:132203633-132203633 5:132867941-132867941 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*468G>A SNV Uncertain significance 905070 5:132203742-132203742 5:132868050-132868050 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*485G>A SNV Uncertain significance 906651 5:132203759-132203759 5:132868067-132868067 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*552C>T SNV Uncertain significance 906652 5:132203826-132203826 5:132868134-132868134 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*622T>G SNV Uncertain significance 906653 5:132203896-132203896 5:132868204-132868204 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*697G>C SNV Uncertain significance 906654 5:132203971-132203971 5:132868279-132868279 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*803A>G SNV Uncertain significance 907684 5:132204077-132204077 5:132868385-132868385 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*882G>T SNV Uncertain significance 907685 5:132204156-132204156 5:132868464-132868464 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*953A>T SNV Uncertain significance 907686 5:132204227-132204227 5:132868535-132868535 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*970A>G SNV Uncertain significance 907687 5:132204244-132204244 5:132868552-132868552 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*1010C>G SNV Uncertain significance 904348 5:132204284-132204284 5:132868592-132868592 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*1115G>C SNV Uncertain significance 904349 5:132204389-132204389 5:132868697-132868697 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*1120A>C SNV Uncertain significance 905150 5:132204394-132204394 5:132868702-132868702 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*1177G>A SNV Uncertain significance 905151 5:132204451-132204451 5:132868759-132868759 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*1193A>G SNV Uncertain significance 905152 5:132204467-132204467 5:132868775-132868775 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*1239A>G SNV Uncertain significance 905153 5:132204513-132204513 5:132868821-132868821 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.45C>T (p.Ile15=) SNV Uncertain significance 350839 rs150139635 5:132202618-132202618 5:132866926-132866926 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*249A>G SNV Uncertain significance 350844 rs572786790 5:132203523-132203523 5:132867831-132867831 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*545A>C SNV Uncertain significance 350848 rs886059917 5:132203819-132203819 5:132868127-132868127 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*971C>A SNV Uncertain significance 350856 rs879668666 5:132204245-132204245 5:132868553-132868553 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*332G>A SNV Uncertain significance 350845 rs182167836 5:132203606-132203606 5:132867914-132867914 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*1058A>G SNV Uncertain significance 350859 rs886059918 5:132204332-132204332 5:132868640-132868640 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*1078T>A SNV Uncertain significance 350860 rs149048464 5:132204352-132204352 5:132868660-132868660 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.-18G>C SNV Uncertain significance 350838 rs527907338 5:132202375-132202375 5:132866683-132866683 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*19G>T SNV Uncertain significance 350841 rs774125650 5:132203293-132203293 5:132867601-132867601 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*236C>T SNV Uncertain significance 350843 rs116229809 5:132203510-132203510 5:132867818-132867818 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*364C>T SNV Uncertain significance 350847 rs186810817 5:132203638-132203638 5:132867946-132867946 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*658A>C SNV Uncertain significance 350850 rs188040859 5:132203932-132203932 5:132868240-132868240 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*644C>T SNV Likely benign 350849 rs144996711 5:132203918-132203918 5:132868226-132868226 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*334C>T SNV Likely benign 350846 rs4415070 5:132203608-132203608 5:132867916-132867916 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*678G>A SNV Benign 350851 rs55767930 5:132203952-132203952 5:132868260-132868260 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*757G>A SNV Benign 350854 rs17624157 5:132204031-132204031 5:132868339-132868339 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 UQCRQ NM_014402.5(UQCRQ):c.*723A>G SNV Benign 350852 rs17166297 5:132203997-132203997 5:132868305-132868305 MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 CYC1 NM_001916.5(CYC1):c.288G>T (p.Trp96Cys) SNV Pathogenic 66019 rs587777041 8:145150894-145150894 8:144095991-144095991 MTC090 Mitochondrial Complex Iii Deficiency, Nuclear Type 6 CYC1 NM_001916.5(CYC1):c.643C>T (p.Leu215Phe) SNV Pathogenic 66020 rs587777042 8:145151518-145151518 8:144096615-144096615 MTC090 Mitochondrial Complex Iii Deficiency, Nuclear Type 6 CYC1 NM_001916.5(CYC1):c.949C>T (p.Arg317Trp) SNV Uncertain significance 870566 8:145152210-145152210 8:144097307-144097307 MTC090 Mitochondrial Complex Iii Deficiency, Nuclear Type 6 UQCC2 NM_032340.4(UQCC2):c.214-3C>G SNV Pathogenic 133295 rs587777410 6:33668293-33668293 6:33700516-33700516 MTC095 Mitochondrial Complex Iii Deficiency, Nuclear Type 7 UQCC2 NM_032340.4(UQCC2):c.23G>C (p.Arg8Pro) SNV no interpretation for the single variant 635827 6:33679441-33679441 6:33711664-33711664 MTC095 Mitochondrial Complex Iii Deficiency, Nuclear Type 7 UQCC2 NM_032340.4(UQCC2):c.28C>T (p.Leu10Phe) SNV no interpretation for the single variant 635828 6:33679436-33679436 6:33711659-33711659 MTC095 Mitochondrial Complex Iii Deficiency, Nuclear Type 7 LYRM7 NM_181705.4(LYRM7):c.73G>A (p.Asp25Asn) SNV Pathogenic 135664 rs587777433 5:130515842-130515842 5:131180149-131180149 MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 LYRM7 NM_181705.4(LYRM7):c.244+5dup duplication Pathogenic 223134 rs869025602 5:130522806-130522807 5:131187113-131187114 MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 LYRM7 NM_181705.4(LYRM7):c.190_192TTA[3] (p.Leu66dup) short repeat Pathogenic 223135 rs869025603 5:130522746-130522747 5:131187053-131187054 MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 LYRM7 NM_181705.4(LYRM7):c.214C>T (p.Gln72Ter) SNV Pathogenic 223136 rs869025604 5:130522772-130522772 5:131187079-131187079 MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 LYRM7 NM_181705.4(LYRM7):c.37del (p.Thr13fs) deletion Pathogenic 223137 rs869025605 5:130515803-130515803 5:131180110-131180110 MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 LYRM7 NM_181705.4(LYRM7):c.214C>G (p.Gln72Glu) SNV Likely pathogenic 638440 5:130522772-130522772 5:131187079-131187079 MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 LYRM7 NM_181705.4(LYRM7):c.244+6T>G SNV Uncertain significance 870569 5:130522808-130522808 5:131187115-131187115 MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 UQCC3 NM_001085372.3(UQCC3):c.59T>A (p.Val20Glu) SNV Pathogenic 161120 rs606231426 11:62439276-62439276 11:62671804-62671804 MTC098 Mitochondrial Complex Iii Deficiency, Nuclear Type 9 COX4I1 NM_001861.6(COX4I1):c.303_304delinsTT (p.Lys101_Thr102delinsAsnSer) indel Pathogenic 834062 16:85839400-85839401 16:85805794-85805795 MTC097 Mitochondrial Complex Iv Deficiency COX4I1 NM_001861.6(COX4I1):c.454C>A (p.Pro152Thr) SNV Pathogenic 834063 16:85840424-85840424 16:85806818-85806818 MTC097 Mitochondrial Complex Iv Deficiency COX2 NC_012920.1:m.8088delT deletion Pathogenic 488349 rs1556423388 MT:8087-8087 MT:8087-8087 MTC097 Mitochondrial Complex Iv Deficiency COX6A2 NM_005205.4(COX6A2):c.117C>A (p.Ser39Arg) SNV Pathogenic 638271 16:31439429-31439429 16:31428108-31428108 MTC097 Mitochondrial Complex Iv Deficiency COX6A2 NM_005205.4(COX6A2):c.127T>C (p.Cys43Arg) SNV Pathogenic 638272 16:31439419-31439419 16:31428098-31428098 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.1690C>T (p.Gln564Ter) SNV Pathogenic 561009 rs755068980 2:207652756-207652756 2:206788032-206788032 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.1294C>T (p.Arg432Ter) SNV Pathogenic 641 rs118203917 2:207638988-207638988 2:206774264-206774264 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.3(SCO1):c.363_364del (p.Lys122Valfs) short repeat Pathogenic 6177 rs587776629 17:10599057-10599058 17:10695740-10695741 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.521C>T (p.Pro174Leu) SNV Pathogenic 6178 rs104894630 17:10596122-10596122 17:10692805-10692805 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.612C>A (p.Asn204Lys) SNV Pathogenic 7522 rs104894560 17:14005547-14005547 17:14102230-14102230 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.587C>A (p.Thr196Lys) SNV Pathogenic 7523 rs104894555 17:14005522-14005522 17:14102205-14102205 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.674C>T (p.Pro225Leu) SNV Pathogenic 7524 rs104894556 17:14063243-14063243 17:14159926-14159926 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.1007A>T (p.Asp336Val) SNV Pathogenic 7525 rs104894557 17:14110205-14110205 17:14206888-14206888 MTC097 Mitochondrial Complex Iv Deficiency TRNL1 NC_012920.1:m.3243A>G SNV Pathogenic 9589 rs199474657 MT:3243-3243 MT:3243-3243 MTC097 Mitochondrial Complex Iv Deficiency TRNN m.5728T>C SNV Pathogenic 9622 rs199476132 MT:5728-5728 MT:5728-5728 MTC097 Mitochondrial Complex Iv Deficiency COX3 m.9487_9501delTCGCAGGATTTTTCT deletion Pathogenic 9654 rs267606612 MT:9480-9494 MT:9480-9494 MTC097 Mitochondrial Complex Iv Deficiency COX3 m.9952G>A SNV Pathogenic 9655 rs267606613 MT:9952-9952 MT:9952-9952 MTC097 Mitochondrial Complex Iv Deficiency COX3 m.9537dupC duplication Pathogenic 9656 rs267606614 MT:9531-9532 MT:9531-9532 MTC097 Mitochondrial Complex Iv Deficiency COX3 m.9379G>A SNV Pathogenic 9657 rs267606615 MT:9379-9379 MT:9379-9379 MTC097 Mitochondrial Complex Iv Deficiency COX2 m.7587T>C SNV Pathogenic 9658 rs199474825 MT:7587-7587 MT:7587-7587 MTC097 Mitochondrial Complex Iv Deficiency COX2 m.7671T>A SNV Pathogenic 9660 rs199474827 MT:7671-7671 MT:7671-7671 MTC097 Mitochondrial Complex Iv Deficiency COX2 m.8042_8043delAT deletion Pathogenic 9661 rs199474828 MT:8042-8043 MT:8042-8043 MTC097 Mitochondrial Complex Iv Deficiency COX2 m.7896G>A SNV Pathogenic 9662 rs199474829 MT:7896-7896 MT:7896-7896 MTC097 Mitochondrial Complex Iv Deficiency COX1 m.6930G>A SNV Pathogenic 9668 rs28679680 MT:6930-6930 MT:6930-6930 MTC097 Mitochondrial Complex Iv Deficiency COX6B1 NM_001863.5(COX6B1):c.59G>A (p.Arg20His) SNV Pathogenic 16875 rs121909602 19:36142204-36142204 19:35651302-35651302 MTC097 Mitochondrial Complex Iv Deficiency COX14 NM_032901.4(COX14):c.57G>A (p.Met19Ile) SNV Pathogenic 31196 rs587776904 12:50513883-50513883 12:50120100-50120100 MTC097 Mitochondrial Complex Iv Deficiency COX20 NM_198076.6(COX20):c.154A>C (p.Thr52Pro) SNV Pathogenic 55889 rs587777004 1:245005357-245005357 1:244842055-244842055 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.394G>A (p.Gly132Ser) SNV Pathogenic 120177 rs587777220 17:10596249-10596249 17:10692932-10692932 MTC097 Mitochondrial Complex Iv Deficiency PET100 NM_001171155.2(PET100):c.3G>C (p.Met1Ile) SNV Pathogenic 125441 rs587777839 19:7694722-7694722 19:7629836-7629836 MTC097 Mitochondrial Complex Iv Deficiency PET100 NM_001171155.2(PET100):c.142C>T (p.Gln48Ter) SNV Pathogenic 128250 rs587779779 19:7696362-7696362 19:7631476-7631476 MTC097 Mitochondrial Complex Iv Deficiency COA8 NM_001302652.2(COA8):c.196C>T (p.Arg66Ter) SNV Pathogenic 156421 rs587777784 14:104038032-104038032 14:103571695-103571695 MTC097 Mitochondrial Complex Iv Deficiency COA8 NM_032374.4(COA8):c.163-1G>A SNV Pathogenic 156422 rs587777785 14:104037959-104037959 14:103571622-103571622 MTC097 Mitochondrial Complex Iv Deficiency COA8 NM_001302652.2(COA8):c.328_330GAA[1] (p.Glu111del) short repeat Pathogenic 156424 rs587777787 14:104040448-104040450 14:103574111-103574113 MTC097 Mitochondrial Complex Iv Deficiency COA3 NM_001040431.3(COA3):c.199dup (p.Leu67fs) duplication Pathogenic 190477 rs757472611 17:40950500-40950501 17:42798482-42798483 MTC097 Mitochondrial Complex Iv Deficiency COA3 NM_001040431.3(COA3):c.215A>G (p.Tyr72Cys) SNV Pathogenic 190478 rs139877390 17:40950185-40950185 17:42798167-42798167 MTC097 Mitochondrial Complex Iv Deficiency SURF1 NM_003172.4(SURF1):c.790_791AG[1] (p.Arg264fs) short repeat Pathogenic 215238 rs782490558 9:136218956-136218957 9:133352101-133352102 MTC097 Mitochondrial Complex Iv Deficiency COX6B1 NM_001863.5(COX6B1):c.58C>T (p.Arg20Cys) SNV Pathogenic 217745 rs778740017 19:36142203-36142203 19:35651301-35651301 MTC097 Mitochondrial Complex Iv Deficiency COX8A NM_004074.3(COX8A):c.115-1G>C SNV Pathogenic 222973 rs869025575 11:63743696-63743696 11:63976224-63976224 MTC097 Mitochondrial Complex Iv Deficiency TACO1 NM_016360.4(TACO1):c.472dup (p.His158fs) duplication Likely pathogenic 411 rs587776513 17:61683755-61683756 17:63606395-63606396 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.1898G>T (p.Arg633Ile) SNV Likely pathogenic 801861 2:207653627-207653627 2:206788903-206788903 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.661A>G (p.Thr221Ala) SNV Likely pathogenic 807585 17:14063230-14063230 17:14159913-14159913 MTC097 Mitochondrial Complex Iv Deficiency COA8 NM_001302652.2(COA8):c.41dup (p.Leu15fs) duplication Likely pathogenic 638510 14:104029373-104029374 14:103563036-103563037 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.1291C>T (p.Arg431Trp) SNV Conflicting interpretations of pathogenicity 445971 rs113058506 17:14110489-14110489 17:14207172-14207172 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.982G>A (p.Ala328Thr) SNV Conflicting interpretations of pathogenicity 547867 rs777911169 17:14110180-14110180 17:14206863-14206863 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.411G>A (p.Gly137=) SNV Conflicting interpretations of pathogenicity 511280 rs371690301 17:10596232-10596232 17:10692915-10692915 MTC097 Mitochondrial Complex Iv Deficiency TACO1 NM_016360.4(TACO1):c.219G>A (p.Lys73=) SNV Conflicting interpretations of pathogenicity 516715 rs150607307 17:61678661-61678661 17:63601302-63601302 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_005138.3(SCO2):c.576C>T (p.Thr192=) SNV Conflicting interpretations of pathogenicity 702033 22:50962265-50962265 22:50523836-50523836 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.684G>C (p.Gln228His) SNV Conflicting interpretations of pathogenicity 791020 2:207632101-207632101 2:206767377-206767377 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.579G>T (p.Leu193=) SNV Conflicting interpretations of pathogenicity 731415 17:10595265-10595265 17:10691948-10691948 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.260C>T (p.Thr87Ile) SNV Conflicting interpretations of pathogenicity 725217 17:13980134-13980134 17:14076817-14076817 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_005138.3(SCO2):c.723C>T (p.Tyr241=) SNV Conflicting interpretations of pathogenicity 800057 22:50962118-50962118 22:50523689-50523689 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*1267A>G SNV Conflicting interpretations of pathogenicity 888725 17:14111797-14111797 17:14208480-14208480 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*1383G>A SNV Conflicting interpretations of pathogenicity 890428 17:14111913-14111913 17:14208596-14208596 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.302C>T (p.Pro101Leu) SNV Conflicting interpretations of pathogenicity 137008 rs145948285 17:13980176-13980176 17:14076859-14076859 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.682C>T (p.Arg228Cys) SNV Conflicting interpretations of pathogenicity 137010 rs114521946 17:14063251-14063251 17:14159934-14159934 MTC097 Mitochondrial Complex Iv Deficiency COX6B1 NM_001863.5(COX6B1):c.228A>G (p.Gln76=) SNV Conflicting interpretations of pathogenicity 137021 rs116118827 19:36149516-36149516 19:35658614-35658614 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.929-7C>T SNV Conflicting interpretations of pathogenicity 136999 rs62052075 17:14110120-14110120 17:14206803-14206803 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.981C>T (p.Asn327=) SNV Conflicting interpretations of pathogenicity 137000 rs146175179 17:14110179-14110179 17:14206862-14206862 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.1096G>T (p.Val366Leu) SNV Conflicting interpretations of pathogenicity 137002 rs111541535 17:14110294-14110294 17:14206977-14206977 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_152299.4(NCAPH2):c.*696C>T SNV Conflicting interpretations of pathogenicity 50905 rs145100473 22:50962500-50962500 22:50524071-50524071 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*904C>G SNV Conflicting interpretations of pathogenicity 890935 17:14111434-14111434 17:14208117-14208117 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*1079G>A SNV Conflicting interpretations of pathogenicity 888723 17:14111609-14111609 17:14208292-14208292 MTC097 Mitochondrial Complex Iv Deficiency TACO1 NM_016360.4(TACO1):c.498T>C (p.His166=) SNV Conflicting interpretations of pathogenicity 215244 rs17549732 17:61683783-61683783 17:63606423-63606423 MTC097 Mitochondrial Complex Iv Deficiency TACO1 NM_016360.4(TACO1):c.742T>G (p.Ser248Ala) SNV Conflicting interpretations of pathogenicity 215247 rs182355403 17:61685210-61685210 17:63607850-63607850 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.911T>C (p.Ile304Thr) SNV Conflicting interpretations of pathogenicity 214351 rs144499152 2:207635935-207635935 2:206771211-206771211 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.1295G>A (p.Arg432Gln) SNV Conflicting interpretations of pathogenicity 214349 rs372022584 2:207638989-207638989 2:206774265-206774265 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.2093C>T (p.Ala698Val) SNV Conflicting interpretations of pathogenicity 214346 rs146554705 2:207656486-207656486 2:206791762-206791762 MTC097 Mitochondrial Complex Iv Deficiency COA8 NM_001370595.1(COA8):c.314T>C (p.Phe105Ser) SNV Conflicting interpretations of pathogenicity 156423 rs587777786 14:104038150-104038150 14:103571813-103571813 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_152299.4(NCAPH2):c.*274G>T SNV Conflicting interpretations of pathogenicity 139087 rs112793292 22:50962078-50962078 22:50523649-50523649 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.29G>C (p.Ser10Thr) SNV Conflicting interpretations of pathogenicity 137293 rs147727753 2:207631446-207631446 2:206766722-206766722 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_001169109.1(SCO2):c.-14+479C>T SNV Conflicting interpretations of pathogenicity 137879 rs372620403 22:50964196-50964196 22:50525767-50525767 MTC097 Mitochondrial Complex Iv Deficiency TYMP NM_001169109.1(SCO2):c.-14+479C>T SNV Conflicting interpretations of pathogenicity 137879 rs372620403 22:50964196-50964196 22:50525767-50525767 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_001169109.1(SCO2):c.-14+486G>A SNV Conflicting interpretations of pathogenicity 137880 rs369012029 22:50964189-50964189 22:50525760-50525760 MTC097 Mitochondrial Complex Iv Deficiency TYMP NM_001169109.1(SCO2):c.-14+486G>A SNV Conflicting interpretations of pathogenicity 137880 rs369012029 22:50964189-50964189 22:50525760-50525760 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.16C>G (p.Leu6Val) SNV Conflicting interpretations of pathogenicity 139078 rs61753148 17:10600809-10600809 17:10697492-10697492 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_152299.4(NCAPH2):c.*836G>A SNV Conflicting interpretations of pathogenicity 139083 rs61748568 22:50962640-50962640 22:50524211-50524211 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.1353A>G (p.Leu451=) SNV Conflicting interpretations of pathogenicity 289018 rs369427864 2:207639047-207639047 2:206774323-206774323 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_152299.4(NCAPH2):c.*502G>A SNV Conflicting interpretations of pathogenicity 215130 rs780314255 22:50962306-50962306 22:50523877-50523877 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_001953.4(TYMP):c.929-6_929-3del short repeat Conflicting interpretations of pathogenicity 215324 rs201685922 22:50964908-50964911 22:50526479-50526482 MTC097 Mitochondrial Complex Iv Deficiency TYMP NM_001953.4(TYMP):c.929-6_929-3del short repeat Conflicting interpretations of pathogenicity 215324 rs201685922 22:50964908-50964911 22:50526479-50526482 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.991-13G>C SNV Conflicting interpretations of pathogenicity 333804 rs13421046 2:207636605-207636605 2:206771881-206771881 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.2018A>G (p.Asn673Ser) SNV Conflicting interpretations of pathogenicity 333808 rs142211558 2:207656411-207656411 2:206791687-206791687 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.-30T>C SNV Conflicting interpretations of pathogenicity 333798 rs145438423 2:207631388-207631388 2:206766664-206766664 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*646C>G SNV Conflicting interpretations of pathogenicity 321832 rs7214082 17:14111176-14111176 17:14207859-14207859 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_001257988.1(TYMP):c.1176C>T (p.Val392=) SNV Conflicting interpretations of pathogenicity 342137 rs770533125 22:50964554-50964554 22:50526125-50526125 MTC097 Mitochondrial Complex Iv Deficiency TYMP NM_001257988.1(TYMP):c.1176C>T (p.Val392=) SNV Conflicting interpretations of pathogenicity 342137 rs770533125 22:50964554-50964554 22:50526125-50526125 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_152299.4(NCAPH2):c.*299C>G SNV Conflicting interpretations of pathogenicity 342123 rs200605042 22:50962103-50962103 22:50523674-50523674 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.624+4A>G SNV Conflicting interpretations of pathogenicity 321815 rs199668725 17:14005563-14005563 17:14102246-14102246 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.909C>T (p.Ala303=) SNV Conflicting interpretations of pathogenicity 321816 rs370260574 17:14095519-14095519 17:14192202-14192202 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.-24G>A SNV Conflicting interpretations of pathogenicity 321809 rs201257809 17:13972899-13972899 17:14069582-14069582 MTC097 Mitochondrial Complex Iv Deficiency TACO1 NM_016360.4(TACO1):c.297T>G (p.Pro99=) SNV Conflicting interpretations of pathogenicity 324444 rs778960378 17:61681910-61681910 17:63604550-63604550 MTC097 Mitochondrial Complex Iv Deficiency NCAPH2 NM_152299.4(NCAPH2):c.*800C>T SNV Conflicting interpretations of pathogenicity 342126 rs150485659 22:50962604-50962604 22:50524175-50524175 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_152299.4(NCAPH2):c.*800C>T SNV Conflicting interpretations of pathogenicity 342126 rs150485659 22:50962604-50962604 22:50524175-50524175 MTC097 Mitochondrial Complex Iv Deficiency TYMP NM_152299.4(NCAPH2):c.*800C>T SNV Conflicting interpretations of pathogenicity 342126 rs150485659 22:50962604-50962604 22:50524175-50524175 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_001169109.1(SCO2):c.-14+646G>C SNV Conflicting interpretations of pathogenicity 342134 rs145052206 22:50964029-50964029 22:50525600-50525600 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_001257988.1(TYMP):c.1443G>A (p.Gln481=) SNV Conflicting interpretations of pathogenicity 342136 rs377497287 22:50964205-50964205 22:50525776-50525776 MTC097 Mitochondrial Complex Iv Deficiency TYMP NM_001257988.1(TYMP):c.1443G>A (p.Gln481=) SNV Conflicting interpretations of pathogenicity 342136 rs377497287 22:50964205-50964205 22:50525776-50525776 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.149A>G (p.Lys50Arg) SNV Conflicting interpretations of pathogenicity 376842 rs141447598 2:207631566-207631566 2:206766842-206766842 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.1435G>T (p.Val479Leu) SNV Conflicting interpretations of pathogenicity 377003 rs145043229 2:207651464-207651464 2:206786740-206786740 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.1389C>T (p.Tyr463=) SNV Conflicting interpretations of pathogenicity 391796 rs200425724 2:207639083-207639083 2:206774359-206774359 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_152299.4(NCAPH2):c.*299C>T SNV Conflicting interpretations of pathogenicity 382126 rs200605042 22:50962103-50962103 22:50523674-50523674 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.93C>A (p.Asp31Glu) SNV Conflicting interpretations of pathogenicity 377746 rs141481210 17:13977689-13977689 17:14074372-14074372 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.1027T>C (p.Cys343Arg) SNV Uncertain significance 377357 rs200818252 17:14110225-14110225 17:14206908-14206908 MTC097 Mitochondrial Complex Iv Deficiency COX20 NM_198076.6(COX20):c.157+3G>C SNV Uncertain significance 380082 rs367956888 1:245005363-245005363 1:244842061-244842061 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_001169109.1(SCO2):c.-14+505G>A SNV Uncertain significance 342135 rs375309432 22:50964170-50964170 22:50525741-50525741 MTC097 Mitochondrial Complex Iv Deficiency TACO1 NM_016360.4(TACO1):c.212G>C (p.Gly71Ala) SNV Uncertain significance 324442 rs886053233 17:61678654-61678654 17:63601295-63601295 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.76T>C (p.Trp26Arg) SNV Uncertain significance 374694 rs536180346 2:207631493-207631493 2:206766769-206766769 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_001257988.1(TYMP):c.1044G>A (p.Ala348=) SNV Uncertain significance 342140 rs886057633 22:50964790-50964790 22:50526361-50526361 MTC097 Mitochondrial Complex Iv Deficiency TYMP NM_001257988.1(TYMP):c.1044G>A (p.Ala348=) SNV Uncertain significance 342140 rs886057633 22:50964790-50964790 22:50526361-50526361 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_001257988.1(TYMP):c.1147G>A (p.Ala383Thr) SNV Uncertain significance 342138 rs771700483 22:50964687-50964687 22:50526258-50526258 MTC097 Mitochondrial Complex Iv Deficiency TYMP NM_001257988.1(TYMP):c.1147G>A (p.Ala383Thr) SNV Uncertain significance 342138 rs771700483 22:50964687-50964687 22:50526258-50526258 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_001257988.1(TYMP):c.1137G>A (p.Glu379=) SNV Uncertain significance 342139 rs764142194 22:50964697-50964697 22:50526268-50526268 MTC097 Mitochondrial Complex Iv Deficiency TYMP NM_001257988.1(TYMP):c.1137G>A (p.Glu379=) SNV Uncertain significance 342139 rs764142194 22:50964697-50964697 22:50526268-50526268 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_001257988.1(TYMP):c.1028T>G (p.Phe343Cys) SNV Uncertain significance 342141 rs762630777 22:50964806-50964806 22:50526377-50526377 MTC097 Mitochondrial Complex Iv Deficiency TYMP NM_001257988.1(TYMP):c.1028T>G (p.Phe343Cys) SNV Uncertain significance 342141 rs762630777 22:50964806-50964806 22:50526377-50526377 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_001257988.1(TYMP):c.995C>T (p.Ala332Val) SNV Uncertain significance 342142 rs778306525 22:50964839-50964839 22:50526410-50526410 MTC097 Mitochondrial Complex Iv Deficiency TYMP NM_001257988.1(TYMP):c.995C>T (p.Ala332Val) SNV Uncertain significance 342142 rs778306525 22:50964839-50964839 22:50526410-50526410 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_152299.4(NCAPH2):c.*875G>A SNV Uncertain significance 342127 rs139545104 22:50962679-50962679 22:50524250-50524250 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_152299.4(NCAPH2):c.*1033G>C SNV Uncertain significance 342128 rs747642461 22:50962837-50962837 22:50524408-50524408 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_001169109.1(SCO2):c.-14+674G>C SNV Uncertain significance 342132 rs554814235 22:50964001-50964001 22:50525572-50525572 MTC097 Mitochondrial Complex Iv Deficiency COX6B1 NM_001863.5(COX6B1):c.-133A>G SNV Uncertain significance 328838 rs577036606 19:36139184-36139184 19:35648282-35648282 MTC097 Mitochondrial Complex Iv Deficiency COX6B1 NM_001863.5(COX6B1):c.-47A>G SNV Uncertain significance 328839 rs886054343 19:36139270-36139270 19:35648368-35648368 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_152299.4(NCAPH2):c.*793T>C SNV Uncertain significance 342125 rs765425160 22:50962597-50962597 22:50524168-50524168 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_001169109.1(SCO2):c.-14+737C>T SNV Uncertain significance 342129 rs886057631 22:50963938-50963938 22:50525509-50525509 MTC097 Mitochondrial Complex Iv Deficiency TACO1 NM_016360.4(TACO1):c.511A>C (p.Asn171His) SNV Uncertain significance 324445 rs886053234 17:61683796-61683796 17:63606436-63606436 MTC097 Mitochondrial Complex Iv Deficiency TACO1 NM_016360.4(TACO1):c.765C>G (p.Ser255=) SNV Uncertain significance 324447 rs760058934 17:61685233-61685233 17:63607873-63607873 MTC097 Mitochondrial Complex Iv Deficiency TACO1 NM_016360.4(TACO1):c.*44G>T SNV Uncertain significance 324448 rs191442785 17:61685406-61685406 17:63608046-63608046 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.192G>A (p.Leu64=) SNV Uncertain significance 321813 rs569444237 17:13980066-13980066 17:14076749-14076749 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*152T>A SNV Uncertain significance 321821 rs886052602 17:14110682-14110682 17:14207365-14207365 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*535C>A SNV Uncertain significance 321827 rs886052604 17:14111065-14111065 17:14207748-14207748 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*564dup duplication Uncertain significance 321828 rs886052605 17:14111093-14111094 17:14207776-14207777 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*591_*592del deletion Uncertain significance 321829 rs886052606 17:14111121-14111122 17:14207804-14207805 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*628C>G SNV Uncertain significance 321830 rs886052607 17:14111158-14111158 17:14207841-14207841 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*823C>T SNV Uncertain significance 321835 rs886052609 17:14111353-14111353 17:14208036-14208036 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.*601del deletion Uncertain significance 321781 rs886052591 17:10583835-10583835 17:10680518-10680518 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.*594A>G SNV Uncertain significance 321782 rs183020275 17:10583842-10583842 17:10680525-10680525 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.*403A>G SNV Uncertain significance 321783 rs886052592 17:10584033-10584033 17:10680716-10680716 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.*349C>G SNV Uncertain significance 321784 rs151279533 17:10584087-10584087 17:10680770-10680770 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.*285C>T SNV Uncertain significance 321787 rs886052593 17:10584151-10584151 17:10680834-10680834 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.673G>A (p.Val225Ile) SNV Uncertain significance 321793 rs886052595 17:10590142-10590142 17:10686825-10686825 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.304T>G (p.Phe102Val) SNV Uncertain significance 321795 rs539094737 17:10599118-10599118 17:10695801-10695801 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.273G>A (p.Gly91=) SNV Uncertain significance 321796 rs886052596 17:10600552-10600552 17:10697235-10697235 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*13G>A SNV Uncertain significance 321818 rs371047487 17:14110543-14110543 17:14207226-14207226 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*150_*152del deletion Uncertain significance 321820 rs200239586 17:14110669-14110671 17:14207352-14207354 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_152299.4(NCAPH2):c.*761T>C SNV Uncertain significance 342124 rs886057630 22:50962565-50962565 22:50524136-50524136 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_001169109.1(SCO2):c.-14+705A>G SNV Uncertain significance 342131 rs886057632 22:50963970-50963970 22:50525541-50525541 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.123G>A (p.Arg41=) SNV Uncertain significance 321811 rs886052599 17:13977719-13977719 17:14074402-14074402 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.173G>A (p.Arg58His) SNV Uncertain significance 321812 rs772223730 17:13977769-13977769 17:14074452-14074452 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.*127A>G SNV Uncertain significance 321789 rs779082082 17:10584309-10584309 17:10680992-10680992 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.*61A>C SNV Uncertain significance 321790 rs886052594 17:10584375-10584375 17:10681058-10681058 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.689C>T (p.Thr230Met) SNV Uncertain significance 321792 rs141066877 17:10590126-10590126 17:10686809-10686809 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.15C>T (p.Val5=) SNV Uncertain significance 321799 rs780334801 17:10600810-10600810 17:10697493-10697493 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.3(SCO1):c.-52delA deletion Uncertain significance 321801 rs566330071 17:10600876-10600876 17:10697559-10697559 MTC097 Mitochondrial Complex Iv Deficiency TACO1 NM_016360.4(TACO1):c.261C>T (p.Asn87=) SNV Uncertain significance 324443 rs534248303 17:61678703-61678703 17:63601344-63601344 MTC097 Mitochondrial Complex Iv Deficiency TACO1 NM_016360.4(TACO1):c.515+11G>A SNV Uncertain significance 324446 rs772746935 17:61683811-61683811 17:63606451-63606451 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*739A>G SNV Uncertain significance 321833 rs886052608 17:14111269-14111269 17:14207952-14207952 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*1367G>A SNV Uncertain significance 321842 rs555512140 17:14111897-14111897 17:14208580-14208580 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*408G>A SNV Uncertain significance 321825 rs886052603 17:14110938-14110938 17:14207621-14207621 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.64T>A (p.Trp22Arg) SNV Uncertain significance 321810 rs540737897 17:13977660-13977660 17:14074343-14074343 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.543G>A (p.Pro181=) SNV Uncertain significance 321814 rs371273328 17:14005478-14005478 17:14102161-14102161 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.-40G>A SNV Uncertain significance 321807 rs376921957 17:13972883-13972883 17:14069566-14069566 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.-29C>A SNV Uncertain significance 321808 rs373184679 17:13972894-13972894 17:14069577-14069577 MTC097 Mitochondrial Complex Iv Deficiency COX15 NM_078470.6(COX15):c.*1429_*1430del deletion Uncertain significance 298408 rs886046609 10:101472914-101472915 10:99713157-99713158 MTC097 Mitochondrial Complex Iv Deficiency COX15 NM_078470.6(COX15):c.107G>A (p.Arg36His) SNV Uncertain significance 298421 rs763754710 10:101489475-101489475 10:99729718-99729718 MTC097 Mitochondrial Complex Iv Deficiency COX15 NM_015960.3(CUTC):c.61+38G>T SNV Uncertain significance 298430 rs886046615 10:101492204-101492204 10:99732447-99732447 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.868A>G (p.Ile290Val) SNV Uncertain significance 321791 rs139771078 17:10584474-10584474 17:10681157-10681157 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.224C>T (p.Pro75Leu) SNV Uncertain significance 321798 rs370147170 17:10600601-10600601 17:10697284-10697284 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.3(SCO1):c.-49C>T SNV Uncertain significance 321800 rs778522503 17:10600873-10600873 17:10697556-10697556 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.3(COX10):c.-170C>G SNV Uncertain significance 321802 rs886052597 17:13972753-13972753 17:14069436-14069436 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*1459del deletion Uncertain significance 321844 rs574015313 17:14111989-14111989 17:14208672-14208672 MTC097 Mitochondrial Complex Iv Deficiency TACO1 NM_016360.4(TACO1):c.-177C>T SNV Uncertain significance 324440 rs540772284 17:61678266-61678266 17:63600907-63600907 MTC097 Mitochondrial Complex Iv Deficiency TACO1 NM_016360.4(TACO1):c.-163A>G SNV Uncertain significance 324441 rs752592967 17:61678280-61678280 17:63600921-63600921 MTC097 Mitochondrial Complex Iv Deficiency TACO1 NM_016360.4(TACO1):c.*230G>A SNV Uncertain significance 324449 rs886053235 17:61685592-61685592 17:63608232-63608232 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.640G>A (p.Ala214Thr) SNV Uncertain significance 321794 rs145764824 17:10595204-10595204 17:10691887-10691887 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.259C>T (p.Pro87Ser) SNV Uncertain significance 321797 rs757958481 17:10600566-10600566 17:10697249-10697249 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.-90G>T SNV Uncertain significance 321805 rs886052598 17:13972833-13972833 17:14069516-14069516 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.1428-13C>G SNV Uncertain significance 333805 rs761492608 2:207651444-207651444 2:206786720-206786720 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*87A>G SNV Uncertain significance 333811 rs115098389 2:207656613-207656613 2:206791889-206791889 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*451C>T SNV Uncertain significance 333814 rs192433004 2:207656977-207656977 2:206792253-206792253 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*1446A>C SNV Uncertain significance 333830 rs200685209 2:207657972-207657972 2:206793248-206793248 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*1621A>G SNV Uncertain significance 333834 rs548336967 2:207658147-207658147 2:206793423-206793423 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*1981C>G SNV Uncertain significance 333835 rs539483074 2:207658507-207658507 2:206793783-206793783 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*1438_*1449del deletion Uncertain significance 333829 rs58656956 2:207657945-207657956 2:206793221-206793232 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*1520dup duplication Uncertain significance 333833 rs886055517 2:207658044-207658045 2:206793320-206793321 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*2114del deletion Uncertain significance 333838 rs547846330 2:207658633-207658633 2:206793909-206793909 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*2331C>T SNV Uncertain significance 333842 rs568225901 2:207658857-207658857 2:206794133-206794133 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*2323_*2324CA[8] short repeat Uncertain significance 333841 rs10655467 2:207658847-207658848 2:206794123-206794124 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*2630G>A SNV Uncertain significance 333846 rs547470657 2:207659156-207659156 2:206794432-206794432 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*2960T>C SNV Uncertain significance 333848 rs147381048 2:207659486-207659486 2:206794762-206794762 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*3112A>G SNV Uncertain significance 333851 rs535264688 2:207659638-207659638 2:206794914-206794914 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*3380G>A SNV Uncertain significance 333854 rs372815075 2:207659906-207659906 2:206795182-206795182 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*3775C>T SNV Uncertain significance 333860 rs886055524 2:207660301-207660301 2:206795577-206795577 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*3896A>C SNV Uncertain significance 333861 rs886055525 2:207660422-207660422 2:206795698-206795698 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*3990G>C SNV Uncertain significance 333862 rs547229926 2:207660516-207660516 2:206795792-206795792 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*4201C>T SNV Uncertain significance 333865 rs531052965 2:207660727-207660727 2:206796003-206796003 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*585G>C SNV Uncertain significance 333816 rs886055508 2:207657111-207657111 2:206792387-206792387 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*1036C>T SNV Uncertain significance 333821 rs886055511 2:207657562-207657562 2:206792838-206792838 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*1159G>A SNV Uncertain significance 333822 rs575685523 2:207657685-207657685 2:206792961-206792961 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*1202A>T SNV Uncertain significance 333824 rs114726254 2:207657728-207657728 2:206793004-206793004 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*1270dup duplication Uncertain significance 333826 rs200366194 2:207657790-207657791 2:206793066-206793067 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*1452C>A SNV Uncertain significance 333831 rs886055515 2:207657978-207657978 2:206793254-206793254 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*1180G>C SNV Uncertain significance 333823 rs114333222 2:207657706-207657706 2:206792982-206792982 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*2009_*2010del deletion Uncertain significance 333836 rs71930000 2:207658532-207658533 2:206793808-206793809 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*2316G>A SNV Uncertain significance 333840 rs576889447 2:207658842-207658842 2:206794118-206794118 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*3472C>T SNV Uncertain significance 333855 rs886055522 2:207659998-207659998 2:206795274-206795274 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*4142T>C SNV Uncertain significance 333863 rs755060762 2:207660668-207660668 2:206795944-206795944 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*4199G>C SNV Uncertain significance 333864 rs146262081 2:207660725-207660725 2:206796001-206796001 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*4360A>G SNV Uncertain significance 333866 rs886055526 2:207660886-207660886 2:206796162-206796162 MTC097 Mitochondrial Complex Iv Deficiency COX15 NM_078470.6(COX15):c.*3484_*3485dup duplication Uncertain significance 298386 rs11405417 10:101470858-101470859 10:99711101-99711102 MTC097 Mitochondrial Complex Iv Deficiency COX15 NM_078470.6(COX15):c.*2755del deletion Uncertain significance 298391 rs145731044 10:101471589-101471589 10:99711832-99711832 MTC097 Mitochondrial Complex Iv Deficiency COX15 NM_020354.5(ENTPD7):c.*4292C>T SNV Uncertain significance 298364 rs201701928 10:101468732-101468732 10:99708975-99708975 MTC097 Mitochondrial Complex Iv Deficiency COX15 NM_020354.5(ENTPD7):c.*5084T>A SNV Uncertain significance 298374 rs200422911 10:101469524-101469524 10:99709767-99709767 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.1992A>C (p.Ala664=) SNV Uncertain significance 333807 rs149018757 2:207655389-207655389 2:206790665-206790665 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*58G>A SNV Uncertain significance 333810 rs183337182 2:207656584-207656584 2:206791860-206791860 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*624C>G SNV Uncertain significance 333817 rs886055509 2:207657150-207657150 2:206792426-206792426 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*1010T>C SNV Uncertain significance 333820 rs886055510 2:207657536-207657536 2:206792812-206792812 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*1335G>T SNV Uncertain significance 333827 rs886055513 2:207657861-207657861 2:206793137-206793137 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*1345G>A SNV Uncertain significance 333828 rs530276798 2:207657871-207657871 2:206793147-206793147 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.225A>G (p.Arg75=) SNV Uncertain significance 333801 rs374830420 2:207631642-207631642 2:206766918-206766918 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136194.1(FASTKD2):c.-235G>C SNV Uncertain significance 333792 rs886055503 2:207630302-207630302 2:206765578-206765578 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.-181G>A SNV Uncertain significance 333795 rs866957815 2:207630341-207630341 2:206765617-206765617 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*3238G>A SNV Uncertain significance 333852 rs886055521 2:207659764-207659764 2:206795040-206795040 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*3355C>T SNV Uncertain significance 333853 rs186521301 2:207659881-207659881 2:206795157-206795157 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*3592C>T SNV Uncertain significance 333856 rs564472346 2:207660118-207660118 2:206795394-206795394 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*3683G>T SNV Uncertain significance 333858 rs886055523 2:207660209-207660209 2:206795485-206795485 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*3710C>T SNV Uncertain significance 333859 rs550284931 2:207660236-207660236 2:206795512-206795512 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.-130G>A SNV Uncertain significance 333796 rs543042440 2:207630392-207630392 2:206765668-206765668 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.-37C>T SNV Uncertain significance 333797 rs765204520 2:207631381-207631381 2:206766657-206766657 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.1778C>T (p.Ser593Leu) SNV Uncertain significance 333806 rs150016888 2:207652844-207652844 2:206788120-206788120 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*2298C>T SNV Uncertain significance 333839 rs746695830 2:207658824-207658824 2:206794100-206794100 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*2428G>A SNV Uncertain significance 333843 rs775360254 2:207658954-207658954 2:206794230-206794230 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*2431C>G SNV Uncertain significance 333844 rs146898986 2:207658957-207658957 2:206794233-206794233 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*2876A>G SNV Uncertain significance 333847 rs886055520 2:207659402-207659402 2:206794678-206794678 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136194.1(FASTKD2):c.-286T>C SNV Uncertain significance 333791 rs539716623 2:207630251-207630251 2:206765527-206765527 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136194.1(FASTKD2):c.-231T>G SNV Uncertain significance 333793 rs886055504 2:207630306-207630306 2:206765582-206765582 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.-15A>G SNV Uncertain significance 333799 rs886055505 2:207631403-207631403 2:206766679-206766679 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.527C>T (p.Ala176Val) SNV Uncertain significance 333802 rs367909050 2:207631944-207631944 2:206767220-206767220 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.832G>A (p.Glu278Lys) SNV Uncertain significance 333803 rs886055506 2:207634869-207634869 2:206770145-206770145 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.2074A>G (p.Lys692Glu) SNV Uncertain significance 333809 rs771134176 2:207656467-207656467 2:206791743-206791743 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*399T>A SNV Uncertain significance 333813 rs886055507 2:207656925-207656925 2:206792201-206792201 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.602G>A (p.Arg201His) SNV Uncertain significance 195304 rs150994958 2:207632019-207632019 2:206767295-206767295 MTC097 Mitochondrial Complex Iv Deficiency COX6B1 NM_001863.5(COX6B1):c.247C>T (p.Pro83Ser) SNV Uncertain significance 214276 rs111638609 19:36149535-36149535 19:35658633-35658633 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.787A>G (p.Ile263Val) SNV Uncertain significance 215123 rs111708860 17:10584555-10584555 17:10681238-10681238 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*1148G>A SNV Uncertain significance 888724 17:14111678-14111678 17:14208361-14208361 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*1002C>T SNV Uncertain significance 892165 17:14111532-14111532 17:14208215-14208215 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*1032T>A SNV Uncertain significance 892166 17:14111562-14111562 17:14208245-14208245 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*3730C>T SNV Uncertain significance 898272 2:207660256-207660256 2:206795532-206795532 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*3862C>T SNV Uncertain significance 898273 2:207660388-207660388 2:206795664-206795664 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*4222A>T SNV Uncertain significance 895272 2:207660748-207660748 2:206796024-206796024 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*4237A>G SNV Uncertain significance 895273 2:207660763-207660763 2:206796039-206796039 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*4326C>T SNV Uncertain significance 895275 2:207660852-207660852 2:206796128-206796128 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.1427+12T>G SNV Uncertain significance 899197 2:207639133-207639133 2:206774409-206774409 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_005138.3(SCO2):c.541G>A (p.Val181Ile) SNV Uncertain significance 902939 22:50962300-50962300 22:50523871-50523871 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_005138.3(SCO2):c.226C>T (p.Leu76=) SNV Uncertain significance 900387 22:50962615-50962615 22:50524186-50524186 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_005138.3(SCO2):c.173G>A (p.Arg58Gln) SNV Uncertain significance 900447 22:50962668-50962668 22:50524239-50524239 MTC097 Mitochondrial Complex Iv Deficiency TACO1 NM_016360.4(TACO1):c.-168A>G SNV Uncertain significance 892464 17:61678275-61678275 17:63600916-63600916 MTC097 Mitochondrial Complex Iv Deficiency TACO1 NM_016360.4(TACO1):c.638C>A (p.Ala213Glu) SNV Uncertain significance 889083 17:61684769-61684769 17:63607409-63607409 MTC097 Mitochondrial Complex Iv Deficiency TACO1 NM_016360.4(TACO1):c.874G>A (p.Val292Ile) SNV Uncertain significance 889084 17:61685342-61685342 17:63607982-63607982 MTC097 Mitochondrial Complex Iv Deficiency TACO1 NM_016360.4(TACO1):c.*29C>T SNV Uncertain significance 889778 17:61685391-61685391 17:63608031-63608031 MTC097 Mitochondrial Complex Iv Deficiency TACO1 NM_016360.4(TACO1):c.*251A>G SNV Uncertain significance 889779 17:61685613-61685613 17:63608253-63608253 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.1865A>G (p.Asp622Gly) SNV Uncertain significance 801860 2:207653594-207653594 2:206788870-206788870 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.1021del (p.Ser341fs) deletion Uncertain significance 632337 rs1559360466 2:207636645-207636645 2:206771921-206771921 MTC097 Mitochondrial Complex Iv Deficiency COA8 NM_001302652.2(COA8):c.476+1G>A SNV Uncertain significance 522727 rs900628637 14:104053702-104053702 14:103587365-103587365 MTC097 Mitochondrial Complex Iv Deficiency COX2 NC_012920.1:m.7965T>C SNV Uncertain significance 440835 rs1556423369 MT:7965-7965 MT:7965-7965 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.5C>A (p.Ala2Glu) SNV Uncertain significance 440960 rs147487151 17:10600820-10600820 17:10697503-10697503 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.1061G>A (p.Arg354Gln) SNV Uncertain significance 444401 rs745492359 17:14110259-14110259 17:14206942-14206942 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.1193A>T (p.Asp398Val) SNV Uncertain significance 449804 rs140778319 2:207636983-207636983 2:206772259-206772259 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.311C>T (p.Pro104Leu) SNV Uncertain significance 449007 rs202207627 17:13980185-13980185 17:14076868-14076868 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.*731A>G SNV Uncertain significance 891558 17:10583705-10583705 17:10680388-10680388 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.*526T>C SNV Uncertain significance 891822 17:10583910-10583910 17:10680593-10680593 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.*326C>T SNV Uncertain significance 889379 17:10584110-10584110 17:10680793-10680793 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.*81A>G SNV Uncertain significance 890644 17:10584355-10584355 17:10681038-10681038 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.*80A>G SNV Uncertain significance 890645 17:10584356-10584356 17:10681039-10681039 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.798G>C (p.Leu266Phe) SNV Uncertain significance 891883 17:10584544-10584544 17:10681227-10681227 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.724A>C (p.Arg242=) SNV Uncertain significance 891885 17:10590091-10590091 17:10686774-10686774 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.433C>T (p.His145Tyr) SNV Uncertain significance 890113 17:10596210-10596210 17:10692893-10692893 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.393C>T (p.Ile131=) SNV Uncertain significance 890114 17:10596250-10596250 17:10692933-10692933 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.153G>T (p.Ala51=) SNV Uncertain significance 889501 17:10600672-10600672 17:10697355-10697355 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.140G>A (p.Arg47Gln) SNV Uncertain significance 889502 17:10600685-10600685 17:10697368-10697368 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.33T>C (p.Val11=) SNV Uncertain significance 889503 17:10600792-10600792 17:10697475-10697475 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.29G>T (p.Arg10Leu) SNV Uncertain significance 889504 17:10600796-10600796 17:10697479-10697479 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.16C>T (p.Leu6=) SNV Uncertain significance 890167 17:10600809-10600809 17:10697492-10697492 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.2T>C (p.Met1Thr) SNV Uncertain significance 890748 17:10600823-10600823 17:10697506-10697506 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.-89G>C SNV Uncertain significance 891985 17:13972834-13972834 17:14069517-14069517 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.-89G>T SNV Uncertain significance 889563 17:13972834-13972834 17:14069517-14069517 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.736C>T (p.Pro246Ser) SNV Uncertain significance 890834 17:14095346-14095346 17:14192029-14192029 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.870G>A (p.Val290=) SNV Uncertain significance 890835 17:14095480-14095480 17:14192163-14192163 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.1169C>T (p.Ala390Val) SNV Uncertain significance 888614 17:14110367-14110367 17:14207050-14207050 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.1305C>T (p.Gly435=) SNV Uncertain significance 888615 17:14110503-14110503 17:14207186-14207186 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*144T>C SNV Uncertain significance 890315 17:14110674-14110674 17:14207357-14207357 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*305A>G SNV Uncertain significance 890316 17:14110835-14110835 17:14207518-14207518 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*485G>A SNV Uncertain significance 892116 17:14111015-14111015 17:14207698-14207698 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*539C>A SNV Uncertain significance 892117 17:14111069-14111069 17:14207752-14207752 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*628C>T SNV Uncertain significance 888669 17:14111158-14111158 17:14207841-14207841 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*653G>A SNV Uncertain significance 888670 17:14111183-14111183 17:14207866-14207866 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*720G>A SNV Uncertain significance 890373 17:14111250-14111250 17:14207933-14207933 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*859G>T SNV Uncertain significance 890933 17:14111389-14111389 17:14208072-14208072 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*894G>T SNV Uncertain significance 890934 17:14111424-14111424 17:14208107-14208107 MTC097 Mitochondrial Complex Iv Deficiency COX6B1 NM_001863.5(COX6B1):c.-42G>A SNV Uncertain significance 889431 19:36139275-36139275 19:35648373-35648373 MTC097 Mitochondrial Complex Iv Deficiency COX6B1 NM_001863.5(COX6B1):c.102C>T (p.Tyr34=) SNV Uncertain significance 889432 19:36142247-36142247 19:35651345-35651345 MTC097 Mitochondrial Complex Iv Deficiency COX6B1 NM_001863.5(COX6B1):c.212C>T (p.Thr71Ile) SNV Uncertain significance 889433 19:36149500-36149500 19:35658598-35658598 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.771+3G>C SNV Uncertain significance 891884 17:10590041-10590041 17:10686724-10686724 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.44-3T>C SNV Uncertain significance 890219 17:13977637-13977637 17:14074320-14074320 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136194.1(FASTKD2):c.-266T>C SNV Uncertain significance 898017 2:207630271-207630271 2:206765547-206765547 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.-190A>G SNV Uncertain significance 899133 2:207630332-207630332 2:206765608-206765608 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.485A>G (p.Glu162Gly) SNV Uncertain significance 895010 2:207631902-207631902 2:206767178-206767178 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.683A>C (p.Gln228Pro) SNV Uncertain significance 896448 2:207632100-207632100 2:206767376-206767376 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.712G>A (p.Ala238Thr) SNV Uncertain significance 896449 2:207632129-207632129 2:206767405-206767405 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.945G>A (p.Lys315=) SNV Uncertain significance 896450 2:207635969-207635969 2:206771245-206771245 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.999C>T (p.Ala333=) SNV Uncertain significance 898074 2:207636626-207636626 2:206771902-206771902 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.1034G>A (p.Ser345Asn) SNV Uncertain significance 898075 2:207636661-207636661 2:206771937-206771937 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.1630G>A (p.Asp544Asn) SNV Uncertain significance 899198 2:207652696-207652696 2:206787972-206787972 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.1870G>T (p.Asp624Tyr) SNV Uncertain significance 899199 2:207653599-207653599 2:206788875-206788875 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.1993A>G (p.Met665Val) SNV Uncertain significance 895081 2:207655390-207655390 2:206790666-206790666 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.2041G>A (p.Glu681Lys) SNV Uncertain significance 895082 2:207656434-207656434 2:206791710-206791710 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*104A>G SNV Uncertain significance 896525 2:207656630-207656630 2:206791906-206791906 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*257G>A SNV Uncertain significance 896526 2:207656783-207656783 2:206792059-206792059 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*328T>C SNV Uncertain significance 896527 2:207656854-207656854 2:206792130-206792130 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*799C>A SNV Uncertain significance 898144 2:207657325-207657325 2:206792601-206792601 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*813G>A SNV Uncertain significance 898145 2:207657339-207657339 2:206792615-206792615 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*1158C>T SNV Uncertain significance 898146 2:207657684-207657684 2:206792960-206792960 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*1295C>G SNV Uncertain significance 899252 2:207657821-207657821 2:206793097-206793097 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*1406G>A SNV Uncertain significance 899253 2:207657932-207657932 2:206793208-206793208 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*1450T>A SNV Uncertain significance 895145 2:207657976-207657976 2:206793252-206793252 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*1464C>T SNV Uncertain significance 895146 2:207657990-207657990 2:206793266-206793266 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*1494A>T SNV Uncertain significance 895147 2:207658020-207658020 2:206793296-206793296 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*1578C>T SNV Uncertain significance 895148 2:207658104-207658104 2:206793380-206793380 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*1579G>A SNV Uncertain significance 895149 2:207658105-207658105 2:206793381-206793381 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*1700A>G SNV Uncertain significance 896569 2:207658226-207658226 2:206793502-206793502 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*1716A>G SNV Uncertain significance 896570 2:207658242-207658242 2:206793518-206793518 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*1883T>G SNV Uncertain significance 896571 2:207658409-207658409 2:206793685-206793685 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*2021G>A SNV Uncertain significance 896572 2:207658547-207658547 2:206793823-206793823 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*2085G>C SNV Uncertain significance 896573 2:207658611-207658611 2:206793887-206793887 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*2107T>G SNV Uncertain significance 898199 2:207658633-207658633 2:206793909-206793909 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*2141G>T SNV Uncertain significance 898200 2:207658667-207658667 2:206793943-206793943 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*2346C>T SNV Uncertain significance 898201 2:207658872-207658872 2:206794148-206794148 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*2374C>T SNV Uncertain significance 898202 2:207658900-207658900 2:206794176-206794176 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*2463T>C SNV Uncertain significance 899303 2:207658989-207658989 2:206794265-206794265 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*2885C>G SNV Uncertain significance 899304 2:207659411-207659411 2:206794687-206794687 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*2937A>C SNV Uncertain significance 899305 2:207659463-207659463 2:206794739-206794739 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*2994A>G SNV Uncertain significance 895216 2:207659520-207659520 2:206794796-206794796 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*2997A>T SNV Uncertain significance 895217 2:207659523-207659523 2:206794799-206794799 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*3121T>G SNV Uncertain significance 895218 2:207659647-207659647 2:206794923-206794923 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*3135T>C SNV Uncertain significance 895219 2:207659661-207659661 2:206794937-206794937 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*3231G>A SNV Uncertain significance 895220 2:207659757-207659757 2:206795033-206795033 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*3297C>G SNV Uncertain significance 896634 2:207659823-207659823 2:206795099-206795099 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*3318G>C SNV Uncertain significance 896635 2:207659844-207659844 2:206795120-206795120 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*3429G>A SNV Uncertain significance 896636 2:207659955-207659955 2:206795231-206795231 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*3450G>C SNV Uncertain significance 896637 2:207659976-207659976 2:206795252-206795252 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*3453A>T SNV Uncertain significance 896638 2:207659979-207659979 2:206795255-206795255 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*3470C>T SNV Uncertain significance 897100 2:207659996-207659996 2:206795272-206795272 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*3502G>A SNV Uncertain significance 897101 2:207660028-207660028 2:206795304-206795304 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*3542C>A SNV Uncertain significance 897102 2:207660068-207660068 2:206795344-206795344 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*3559G>A SNV Uncertain significance 897103 2:207660085-207660085 2:206795361-206795361 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*3677G>T SNV Likely benign 897104 2:207660203-207660203 2:206795479-206795479 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*1415T>G SNV Likely benign 895144 2:207657941-207657941 2:206793217-206793217 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.675G>T (p.Pro225=) SNV Likely benign 667521 17:14063244-14063244 17:14159927-14159927 MTC097 Mitochondrial Complex Iv Deficiency TACO1 NM_016360.4(TACO1):c.*343C>T SNV Likely benign 889780 17:61685705-61685705 17:63608345-63608345 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*4266G>A SNV Likely benign 895274 2:207660792-207660792 2:206796068-206796068 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*4009G>A SNV Likely benign 898274 2:207660535-207660535 2:206795811-206795811 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*3593G>A SNV Likely benign 333857 rs150571344 2:207660119-207660119 2:206795395-206795395 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*3080C>A SNV Likely benign 333850 rs77797215 2:207659606-207659606 2:206794882-206794882 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*1475dup duplication Likely benign 333832 rs111441789 2:207658000-207658001 2:206793276-206793277 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*159C>A SNV Likely benign 333812 rs549535843 2:207656685-207656685 2:206791961-206791961 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.929-9_929-7dup duplication Likely benign 321817 rs144296730 17:14110115-14110116 17:14206798-14206799 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_001169109.1(SCO2):c.-14+653_-14+656dup duplication Likely benign 342133 rs143413019 22:50964018-50964019 22:50525589-50525590 MTC097 Mitochondrial Complex Iv Deficiency TYMP NM_001169109.1(SCO2):c.-14+653_-14+656dup duplication Likely benign 342133 rs143413019 22:50964018-50964019 22:50525589-50525590 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.3(SCO1):c.-71G>T SNV Likely benign 369144 rs2520169 17:10600895-10600895 17:10697578-10697578 MTC097 Mitochondrial Complex Iv Deficiency COX6B1 NM_001863.5(COX6B1):c.-145G>A SNV Likely benign 328837 rs10420252 19:36139172-36139172 19:35648270-35648270 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*1324C>T SNV Benign/Likely benign 321841 rs75636595 17:14111854-14111854 17:14208537-14208537 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*1101C>T SNV Benign/Likely benign 321840 rs75165393 17:14111631-14111631 17:14208314-14208314 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.*310C>T SNV Benign/Likely benign 321786 rs2662957 17:10584126-10584126 17:10680809-10680809 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.*272T>C SNV Benign/Likely benign 321788 rs2662956 17:10584164-10584164 17:10680847-10680847 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.-63C>T SNV Benign/Likely benign 321806 rs77877576 17:13972860-13972860 17:14069543-14069543 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.3(COX10):c.-109G>A SNV Benign/Likely benign 321804 rs28680987 17:13972814-13972814 17:14069497-14069497 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*438G>C SNV Benign/Likely benign 321826 rs75823746 17:14110968-14110968 17:14207651-14207651 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*974C>A SNV Benign/Likely benign 321837 rs2071245 17:14111504-14111504 17:14208187-14208187 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.1038G>A (p.Ser346=) SNV Benign/Likely benign 137001 rs2230355 17:14110236-14110236 17:14206919-14206919 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.290A>G (p.Tyr97Cys) SNV Benign/Likely benign 137007 rs16948986 17:13980164-13980164 17:14076847-14076847 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.83C>T (p.Thr28Ile) SNV Benign/Likely benign 137004 rs16948978 17:13977679-13977679 17:14074362-14074362 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.33C>T (p.Arg11=) SNV Benign/Likely benign 137005 rs8076787 17:13972955-13972955 17:14069638-14069638 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.1090G>A (p.Asp364Asn) SNV Benign/Likely benign 214347 rs34709212 2:207636717-207636717 2:206771993-206771993 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.1187A>G (p.Asn396Ser) SNV Benign/Likely benign 214348 rs79652942 2:207636977-207636977 2:206772253-206772253 MTC097 Mitochondrial Complex Iv Deficiency NCAPH2 NM_152299.4(NCAPH2):c.*261G>A SNV Benign/Likely benign 139088 rs8139305 22:50962065-50962065 22:50523636-50523636 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_152299.4(NCAPH2):c.*261G>A SNV Benign/Likely benign 139088 rs8139305 22:50962065-50962065 22:50523636-50523636 MTC097 Mitochondrial Complex Iv Deficiency TYMP NM_152299.4(NCAPH2):c.*261G>A SNV Benign/Likely benign 139088 rs8139305 22:50962065-50962065 22:50523636-50523636 MTC097 Mitochondrial Complex Iv Deficiency NCAPH2 NM_152299.4(NCAPH2):c.*710G>A SNV Benign/Likely benign 139084 rs75485962 22:50962514-50962514 22:50524085-50524085 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_152299.4(NCAPH2):c.*710G>A SNV Benign/Likely benign 139084 rs75485962 22:50962514-50962514 22:50524085-50524085 MTC097 Mitochondrial Complex Iv Deficiency TYMP NM_152299.4(NCAPH2):c.*710G>A SNV Benign/Likely benign 139084 rs75485962 22:50962514-50962514 22:50524085-50524085 MTC097 Mitochondrial Complex Iv Deficiency NCAPH2 NM_152299.4(NCAPH2):c.*455G>A SNV Benign/Likely benign 139085 rs131811 22:50962259-50962259 22:50523830-50523830 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_152299.4(NCAPH2):c.*455G>A SNV Benign/Likely benign 139085 rs131811 22:50962259-50962259 22:50523830-50523830 MTC097 Mitochondrial Complex Iv Deficiency TYMP NM_152299.4(NCAPH2):c.*455G>A SNV Benign/Likely benign 139085 rs131811 22:50962259-50962259 22:50523830-50523830 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.594A>G (p.Pro198=) SNV Benign/Likely benign 139079 rs2271228 17:10595250-10595250 17:10691933-10691933 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.172C>T (p.Pro58Ser) SNV Benign/Likely benign 139080 rs1802083 17:10600653-10600653 17:10697336-10697336 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.297A>G (p.Ala99=) SNV Benign/Likely benign 139077 rs11538237 17:10599125-10599125 17:10695808-10695808 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.1254+9A>C SNV Benign/Likely benign 137296 rs10177169 2:207637053-207637053 2:206772329-206772329 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.-162C>T SNV Benign/Likely benign 137297 rs16838842 2:207630360-207630360 2:206765636-206765636 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_001257988.1(TYMP):c.831G>A (p.Leu277=) SNV Benign/Likely benign 137873 rs8141558 22:50965102-50965102 22:50526673-50526673 MTC097 Mitochondrial Complex Iv Deficiency TYMP NM_001257988.1(TYMP):c.831G>A (p.Leu277=) SNV Benign/Likely benign 137873 rs8141558 22:50965102-50965102 22:50526673-50526673 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_001257988.1(TYMP):c.1284T>A (p.Gly428=) SNV Benign 137876 rs1138404 22:50964446-50964446 22:50526017-50526017 MTC097 Mitochondrial Complex Iv Deficiency TYMP NM_001257988.1(TYMP):c.1284T>A (p.Gly428=) SNV Benign 137876 rs1138404 22:50964446-50964446 22:50526017-50526017 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*9T>C SNV Benign 137294 rs10194665 2:207656535-207656535 2:206791811-206791811 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.991-13G>A SNV Benign 137295 rs13421046 2:207636605-207636605 2:206771881-206771881 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_001169109.1(SCO2):c.-14+770G>A SNV Benign 139081 rs74479613 22:50963905-50963905 22:50525476-50525476 MTC097 Mitochondrial Complex Iv Deficiency TYMP NM_001169109.1(SCO2):c.-14+770G>A SNV Benign 139081 rs74479613 22:50963905-50963905 22:50525476-50525476 MTC097 Mitochondrial Complex Iv Deficiency NCAPH2 NM_152299.4(NCAPH2):c.*978C>G SNV Benign 139082 rs140523 22:50962782-50962782 22:50524353-50524353 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_152299.4(NCAPH2):c.*978C>G SNV Benign 139082 rs140523 22:50962782-50962782 22:50524353-50524353 MTC097 Mitochondrial Complex Iv Deficiency TYMP NM_152299.4(NCAPH2):c.*978C>G SNV Benign 139082 rs140523 22:50962782-50962782 22:50524353-50524353 MTC097 Mitochondrial Complex Iv Deficiency NCAPH2 NM_152299.4(NCAPH2):c.*404T>G SNV Benign 139086 rs12148 22:50962208-50962208 22:50523779-50523779 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_152299.4(NCAPH2):c.*404T>G SNV Benign 139086 rs12148 22:50962208-50962208 22:50523779-50523779 MTC097 Mitochondrial Complex Iv Deficiency TYMP NM_152299.4(NCAPH2):c.*404T>G SNV Benign 139086 rs12148 22:50962208-50962208 22:50523779-50523779 MTC097 Mitochondrial Complex Iv Deficiency TACO1 NM_016360.4(TACO1):c.433G>A (p.Gly145Ser) SNV Benign 139386 rs35252424 17:61683718-61683718 17:63606358-63606358 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.184A>T (p.Thr62Ser) SNV Benign 137006 rs2230351 17:13980058-13980058 17:14076741-14076741 MTC097 Mitochondrial Complex Iv Deficiency COX6B1 NM_001863.5(COX6B1):c.42C>T (p.Thr14=) SNV Benign 137022 rs7991 19:36142187-36142187 19:35651285-35651285 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.476G>A (p.Arg159Gln) SNV Benign 137009 rs2072279 17:13980350-13980350 17:14077033-14077033 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.504G>A (p.Leu168=) SNV Benign 137003 rs2159132 17:14005439-14005439 17:14102122-14102122 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_001257988.1(TYMP):c.972C>T (p.Ala324=) SNV Benign 130694 rs131804 22:50964862-50964862 22:50526433-50526433 MTC097 Mitochondrial Complex Iv Deficiency TYMP NM_001257988.1(TYMP):c.972C>T (p.Ala324=) SNV Benign 130694 rs131804 22:50964862-50964862 22:50526433-50526433 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.699A>G (p.Pro233=) SNV Benign 136995 rs2230354 17:14095309-14095309 17:14191992-14191992 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.928+12G>A SNV Benign 136998 rs200573622 17:14095550-14095550 17:14192233-14192233 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*557A>G SNV Benign 333815 rs7559712 2:207657083-207657083 2:206792359-206792359 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*2069T>A SNV Benign 333837 rs2193885 2:207658595-207658595 2:206793871-206793871 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*3005A>G SNV Benign 333849 rs1001805 2:207659531-207659531 2:206794807-206794807 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*1215G>A SNV Benign 333825 rs111954117 2:207657741-207657741 2:206793017-206793017 MTC097 Mitochondrial Complex Iv Deficiency COX15 NM_078470.6(COX15):c.*3485dup duplication Benign 298385 rs11405417 10:101470858-101470859 10:99711101-99711102 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.44G>A (p.Ser15Asn) SNV Benign 333800 rs3762568 2:207631461-207631461 2:206766737-206766737 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*2488T>C SNV Benign 333845 rs6435351 2:207659014-207659014 2:206794290-206794290 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.-184C>T SNV Benign 333794 rs3762567 2:207630338-207630338 2:206765614-206765614 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*627T>C SNV Benign 333818 rs1048783 2:207657153-207657153 2:206792429-206792429 MTC097 Mitochondrial Complex Iv Deficiency FASTKD2 NM_001136193.2(FASTKD2):c.*672T>A SNV Benign 333819 rs61672260 2:207657198-207657198 2:206792474-206792474 MTC097 Mitochondrial Complex Iv Deficiency COX1 m.6480G>A SNV Benign 9666 rs199476128 MT:6480-6480 MT:6480-6480 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*1078C>T SNV Benign 321839 rs13183 17:14111608-14111608 17:14208291-14208291 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.*722C>G SNV Benign 321780 rs7512 17:10583714-10583714 17:10680397-10680397 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*757T>C SNV Benign 321834 rs1802618 17:14111287-14111287 17:14207970-14207970 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*831_*832CT[1] short repeat Benign 321836 rs397763766 17:14111361-14111362 17:14208044-14208045 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*151_*152del deletion Benign 321819 rs200239586 17:14110669-14110670 17:14207352-14207353 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*371A>G SNV Benign 321824 rs11078234 17:14110901-14110901 17:14207584-14207584 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.3(COX10):c.-112G>A SNV Benign 321803 rs6502330 17:13972811-13972811 17:14069494-14069494 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.*320= SNV Benign 321785 rs2040570 17:10584116-10584116 17:10680799-10680799 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*1076T>C SNV Benign 321838 rs1050216 17:14111606-14111606 17:14208289-14208289 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*297G>A SNV Benign 321822 rs8076247 17:14110827-14110827 17:14207510-14207510 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*322T>C SNV Benign 321823 rs11078233 17:14110852-14110852 17:14207535-14207535 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*646C>A SNV Benign 321831 rs7214082 17:14111176-14111176 17:14207859-14207859 MTC097 Mitochondrial Complex Iv Deficiency COX10 NM_001303.4(COX10):c.*1385C>T SNV Benign 321843 rs1050223 17:14111915-14111915 17:14208598-14208598 MTC097 Mitochondrial Complex Iv Deficiency SCO2 NM_001169109.1(SCO2):c.-14+710G>C SNV Benign 342130 rs131806 22:50963965-50963965 22:50525536-50525536 MTC097 Mitochondrial Complex Iv Deficiency TYMP NM_001169109.1(SCO2):c.-14+710G>C SNV Benign 342130 rs131806 22:50963965-50963965 22:50525536-50525536 MTC097 Mitochondrial Complex Iv Deficiency MRPL44 NM_022915.4(MRPL44):c.584T>C (p.Phe195Ser) SNV not provided 441127 rs1553539922 2:224824655-224824655 2:223959938-223959938 MTC097 Mitochondrial Complex Iv Deficiency SCO1 NM_004589.4(SCO1):c.769A>C (p.Ile257Leu) SNV not provided 441079 rs1234427803 17:10590046-10590046 17:10686729-10686729 MTC097 Mitochondrial Complex Iv Deficiency ATP6 NC_012920.1:m.8993T>G SNV Pathogenic 9641 rs199476133 MT:8993-8993 MT:8993-8993 MTC150 Mitochondrial Complex V Deficiency, Mitochondrial Type 1 ATP6 NC_012920.1:m.8993T>C SNV Pathogenic 9642 rs199476133 MT:8993-8993 MT:8993-8993 MTC150 Mitochondrial Complex V Deficiency, Mitochondrial Type 1 ATP6 NC_012920.1:m.9176T>C SNV Pathogenic 9644 rs199476135 MT:9176-9176 MT:9176-9176 MTC150 Mitochondrial Complex V Deficiency, Mitochondrial Type 1 ATP6 NC_012920.1:m.9185T>C SNV Pathogenic 9647 rs199476138 MT:9185-9185 MT:9185-9185 MTC150 Mitochondrial Complex V Deficiency, Mitochondrial Type 1 ATP6 NC_012920.1:m.9176T>G SNV Pathogenic 9650 rs199476135 MT:9176-9176 MT:9176-9176 MTC150 Mitochondrial Complex V Deficiency, Mitochondrial Type 1 ATPAF2 NM_145691.4(ATPAF2):c.280T>A (p.Trp94Arg) SNV Pathogenic 1995 rs104894554 17:17931590-17931590 17:18028276-18028276 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.666_668del (p.Ile223del) deletion Pathogenic 14230 rs397515383 2:207011696-207011698 2:206146972-206146974 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.755A>G (p.Asp252Gly) SNV Pathogenic 14231 rs199422224 2:207009733-207009733 2:206145009-206145009 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.721C>T (p.Arg241Trp) SNV Pathogenic 14232 rs199422225 2:207011643-207011643 2:206146919-206146919 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.691C>G (p.Leu231Val) SNV Pathogenic 14233 rs199422226 2:207011673-207011673 2:206146949-206146949 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.1783A>G (p.Thr595Ala) SNV Pathogenic 31914 rs387907199 2:206992622-206992622 2:206127898-206127898 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.1855G>A (p.Asp619Asn) SNV Pathogenic 50922 rs397515447 2:206992550-206992550 2:206127826-206127826 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.1669C>T (p.Arg557Ter) SNV Pathogenic 50923 rs372691318 2:206994851-206994851 2:206130127-206130127 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.683T>C (p.Val228Ala) SNV Pathogenic/Likely pathogenic 429933 rs370411488 2:207011681-207011681 2:206146957-206146957 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.1222C>T (p.Arg408Cys) SNV Likely pathogenic 50924 rs149271416 2:207006705-207006705 2:206141981-206141981 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.2121G>A (p.Met707Ile) SNV Likely pathogenic 800917 2:206988972-206988972 2:206124248-206124248 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.346T>C (p.Leu116=) SNV Conflicting interpretations of pathogenicity 136466 rs144484457 17:17929709-17929709 17:18026395-18026395 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=) SNV Conflicting interpretations of pathogenicity 138480 rs2230892 2:207003230-207003230 2:206138506-206138506 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.133+1G>T SNV Conflicting interpretations of pathogenicity 422342 rs147941728 17:17942194-17942194 17:18038880-18038880 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.*337T>C SNV Uncertain significance 322090 rs886052664 17:17921526-17921526 17:18018212-18018212 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.*378A>T SNV Uncertain significance 322089 rs530700735 17:17921485-17921485 17:18018171-18018171 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.*132C>T SNV Uncertain significance 322093 rs765325833 17:17921731-17921731 17:18018417-18018417 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.634G>T (p.Ala212Ser) SNV Uncertain significance 322095 rs141020107 17:17924535-17924535 17:18021221-18021221 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.*194C>A SNV Uncertain significance 322091 rs143710995 17:17921669-17921669 17:18018355-18018355 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.250G>A (p.Glu84Lys) SNV Uncertain significance 322096 rs373144265 17:17931620-17931620 17:18028306-18028306 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.-1G>T SNV Uncertain significance 322097 rs886052665 17:17942328-17942328 17:18039014-18039014 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.389C>A (p.Ala130Glu) SNV Uncertain significance 214139 rs759676953 17:17929666-17929666 17:18026352-18026352 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.40C>G (p.Arg14Gly) SNV Uncertain significance 214135 rs143241583 17:17942288-17942288 17:18038974-18038974 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.1554-1G>A SNV Uncertain significance 631541 rs1056433452 2:206994967-206994967 2:206130243-206130243 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.737+1G>A SNV Uncertain significance 632336 rs935776676 2:207011626-207011626 2:206146902-206146902 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.412G>A (p.Asp138Asn) SNV Uncertain significance 635075 rs1568572298 17:17929643-17929643 17:18026329-18026329 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.1393G>A (p.Val465Ile) SNV Uncertain significance 691613 2:206997829-206997829 2:206133105-206133105 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.-5+236T>C SNV Uncertain significance 800992 2:207023829-207023829 2:206159105-206159105 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.*526C>T SNV Uncertain significance 891000 17:17921337-17921337 17:18018023-18018023 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.*485G>A SNV Uncertain significance 891001 17:17921378-17921378 17:18018064-18018064 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.*250C>T SNV Uncertain significance 892222 17:17921613-17921613 17:18018299-18018299 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.*138G>A SNV Uncertain significance 892223 17:17921725-17921725 17:18018411-18018411 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.*137C>T SNV Uncertain significance 892224 17:17921726-17921726 17:18018412-18018412 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.*108C>T SNV Uncertain significance 888801 17:17921755-17921755 17:18018441-18018441 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.*54C>T SNV Uncertain significance 888802 17:17921809-17921809 17:18018495-18018495 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.*26G>C SNV Uncertain significance 888803 17:17921837-17921837 17:18018523-18018523 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.565C>G (p.Arg189Gly) SNV Uncertain significance 890505 17:17925110-17925110 17:18021796-18021796 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.113G>T (p.Arg38Leu) SNV Uncertain significance 890507 17:17942215-17942215 17:18038901-18038901 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.-85C>T SNV Uncertain significance 891070 17:17942412-17942412 17:18039098-18039098 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.-90C>A SNV Uncertain significance 891071 17:17942417-17942417 17:18039103-18039103 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.-107G>T SNV Uncertain significance 891072 17:17942434-17942434 17:18039120-18039120 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.422+11T>C SNV Uncertain significance 890506 17:17929622-17929622 17:18026308-18026308 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.551G>C (p.Arg184Thr) SNV Uncertain significance 916684 2:207012255-207012255 2:206147531-206147531 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.-107G>A SNV Likely benign 322098 rs371822840 17:17942434-17942434 17:18039120-18039120 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.511G>A (p.Val171Met) SNV Benign/Likely benign 136467 rs62073570 17:17925164-17925164 17:18021850-18021850 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.738G>A (p.Gln246=) SNV Benign 136468 rs33997182 17:17921995-17921995 17:18018681-18018681 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.35G>A (p.Gly12Glu) SNV Benign 136469 rs149036879 17:17942293-17942293 17:18038979-18038979 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 NDUFS1 NM_005006.7(NDUFS1):c.154-11_154-9del deletion Benign 281629 rs568965659 2:207014658-207014660 2:206149934-206149936 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.*20C>G SNV Benign 214134 rs1128069 17:17921843-17921843 17:18018529-18018529 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.722A>G (p.Glu241Gly) SNV Benign 214133 rs34607655 17:17924447-17924447 17:18021133-18021133 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.*456T>C SNV Benign 322088 rs77980072 17:17921407-17921407 17:18018093-18018093 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.*165C>T SNV Benign 322092 rs34673242 17:17921698-17921698 17:18018384-18018384 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.-147G>A SNV Benign 322099 rs75249497 17:17942474-17942474 17:18039160-18039160 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 ATPAF2 NM_145691.4(ATPAF2):c.*130T>C SNV Benign 322094 rs117739515 17:17921733-17921733 17:18018419-18018419 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 TMEM70 NM_017866.6(TMEM70):c.378dup (p.Thr127fs) duplication Pathogenic 488624 rs1554599411 8:74893446-74893447 8:73981211-73981212 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NC_000008.11:g.(?_73976262)_(73981641_?)del deletion Pathogenic 583679 8:74888497-74893876 8:73976262-73981641 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.317-2A>G SNV Pathogenic 540 rs183973249 8:74893388-74893388 8:73981153-73981153 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 TMEM70, 2-BP INS, 118GT insertion Pathogenic 541 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.336T>A (p.Tyr112Ter) SNV Pathogenic 30957 8:74893409-74893409 8:73981174-73981174 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.238C>T (p.Arg80Ter) SNV Pathogenic 30958 rs387907070 8:74891018-74891018 8:73978783-73978783 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 TMEM70, 2-BP DEL, 578CA deletion Pathogenic 30959 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.117_118dup (p.Ser40fs) duplication Pathogenic 203989 rs796052056 8:74888632-74888633 8:73976397-73976398 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.105dup (p.Val36fs) duplication Likely pathogenic 807712 8:74888620-74888621 8:73976385-73976386 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.578_579del (p.Thr193fs) deletion Conflicting interpretations of pathogenicity 419199 rs777501387 8:74893650-74893651 8:73981415-73981416 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.211-6C>T SNV Conflicting interpretations of pathogenicity 137677 rs113669789 8:74890985-74890985 8:73978750-73978750 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.555T>G (p.Asn185Lys) SNV Conflicting interpretations of pathogenicity 203986 rs199655842 8:74893628-74893628 8:73981393-73981393 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.730A>G (p.Ile244Val) SNV Conflicting interpretations of pathogenicity 203981 rs151104827 8:74893803-74893803 8:73981568-73981568 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.720_723del (p.Glu241fs) deletion Conflicting interpretations of pathogenicity 283424 rs746973761 8:74893791-74893794 8:73981556-73981559 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.462C>A (p.Ile154=) SNV Conflicting interpretations of pathogenicity 363690 rs143954787 8:74893535-74893535 8:73981300-73981300 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.116C>G (p.Ala39Gly) SNV Conflicting interpretations of pathogenicity 203984 rs770816150 8:74888632-74888632 8:73976397-73976397 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.534T>C (p.Thr178=) SNV Conflicting interpretations of pathogenicity 363691 rs139864454 8:74893607-74893607 8:73981372-73981372 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.97C>A (p.Arg33=) SNV Conflicting interpretations of pathogenicity 380675 rs145329086 8:74888613-74888613 8:73976378-73976378 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*942G>T SNV Uncertain significance 363715 rs531849936 8:74894798-74894798 8:73982563-73982563 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*196G>A SNV Uncertain significance 363696 rs886063101 8:74894052-74894052 8:73981817-73981817 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*18C>T SNV Uncertain significance 363692 rs757479728 8:74893874-74893874 8:73981639-73981639 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*29G>A SNV Uncertain significance 363694 rs780620441 8:74893885-74893885 8:73981650-73981650 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.128G>A (p.Ser43Asn) SNV Uncertain significance 363689 rs199815125 8:74888644-74888644 8:73976409-73976409 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*657C>A SNV Uncertain significance 363706 rs774558050 8:74894513-74894513 8:73982278-73982278 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*425T>A SNV Uncertain significance 363700 rs149063225 8:74894281-74894281 8:73982046-73982046 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*670T>C SNV Uncertain significance 363707 rs886063103 8:74894526-74894526 8:73982291-73982291 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.-39G>T SNV Uncertain significance 363686 rs200386494 8:74888478-74888478 8:73976243-73976243 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.-15C>G SNV Uncertain significance 363688 rs371606877 8:74888502-74888502 8:73976267-73976267 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*693C>T SNV Uncertain significance 363708 rs574729956 8:74894549-74894549 8:73982314-73982314 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*942G>C SNV Uncertain significance 363714 rs531849936 8:74894798-74894798 8:73982563-73982563 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*963A>G SNV Uncertain significance 363716 rs886063104 8:74894819-74894819 8:73982584-73982584 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*300A>G SNV Uncertain significance 363698 rs886063102 8:74894156-74894156 8:73981921-73981921 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*413T>C SNV Uncertain significance 363699 rs759034954 8:74894269-74894269 8:73982034-73982034 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*456T>G SNV Uncertain significance 363701 rs775732275 8:74894312-74894312 8:73982077-73982077 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*1055A>G SNV Uncertain significance 911942 8:74894911-74894911 8:73982676-73982676 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.140G>A (p.Gly47Glu) SNV Uncertain significance 203988 rs761956518 8:74888656-74888656 8:73976421-73976421 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.210+11C>G SNV Uncertain significance 909747 8:74888737-74888737 8:73976502-73976502 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.214C>T (p.Pro72Ser) SNV Uncertain significance 471955 rs143292919 8:74890994-74890994 8:73978759-73978759 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.499G>A (p.Val167Ile) SNV Uncertain significance 471956 rs1554599426 8:74893572-74893572 8:73981337-73981337 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.500T>C (p.Val167Ala) SNV Uncertain significance 471957 rs1010253072 8:74893573-74893573 8:73981338-73981338 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.152G>T (p.Gly51Val) SNV Uncertain significance 539330 rs1251393091 8:74888668-74888668 8:73976433-73976433 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.232T>C (p.Tyr78His) SNV Uncertain significance 579487 rs369641521 8:74891012-74891012 8:73978777-73978777 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.409C>T (p.Pro137Ser) SNV Uncertain significance 580868 rs1563699651 8:74893482-74893482 8:73981247-73981247 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.523A>G (p.Thr175Ala) SNV Uncertain significance 582970 rs756982905 8:74893596-74893596 8:73981361-73981361 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.440T>C (p.Ile147Thr) SNV Uncertain significance 571761 rs201306262 8:74893513-74893513 8:73981278-73981278 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.782G>C (p.Ter261Ser) SNV Uncertain significance 632525 rs1330067430 8:74893855-74893855 8:73981620-73981620 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.434A>G (p.Tyr145Cys) SNV Uncertain significance 652182 8:74893507-74893507 8:73981272-73981272 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.613G>T (p.Ala205Ser) SNV Uncertain significance 654240 8:74893686-74893686 8:73981451-73981451 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.739A>G (p.Met247Val) SNV Uncertain significance 660769 8:74893812-74893812 8:73981577-73981577 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NC_000008.11:g.(?_73976132)_(74367120_?)dup duplication Uncertain significance 831016 8:74888367-75279355 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.77C>T (p.Ala26Val) SNV Uncertain significance 855087 8:74888593-74888593 8:73976358-73976358 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.251C>T (p.Thr84Met) SNV Uncertain significance 840415 8:74891031-74891031 8:73978796-73978796 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.410C>T (p.Pro137Leu) SNV Uncertain significance 842058 8:74893483-74893483 8:73981248-73981248 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.554A>G (p.Asn185Ser) SNV Uncertain significance 859658 8:74893627-74893627 8:73981392-73981392 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.677T>C (p.Phe226Ser) SNV Uncertain significance 856002 8:74893750-74893750 8:73981515-73981515 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.718A>C (p.Lys240Gln) SNV Uncertain significance 835518 8:74893791-74893791 8:73981556-73981556 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.769A>T (p.Lys257Ter) SNV Uncertain significance 858028 8:74893842-74893842 8:73981607-73981607 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.770A>C (p.Lys257Thr) SNV Uncertain significance 835696 8:74893843-74893843 8:73981608-73981608 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.-39G>A SNV Uncertain significance 908887 8:74888478-74888478 8:73976243-73976243 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.-13C>A SNV Uncertain significance 908888 8:74888504-74888504 8:73976269-73976269 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.239G>A (p.Arg80Gln) SNV Uncertain significance 909748 8:74891019-74891019 8:73978784-73978784 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.422A>G (p.Gln141Arg) SNV Uncertain significance 909749 8:74893495-74893495 8:73981260-73981260 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.480C>T (p.His160=) SNV Uncertain significance 909750 8:74893553-74893553 8:73981318-73981318 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*5A>G SNV Uncertain significance 910665 8:74893861-74893861 8:73981626-73981626 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*21G>A SNV Uncertain significance 911897 8:74893877-74893877 8:73981642-73981642 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*178A>G SNV Uncertain significance 911898 8:74894034-74894034 8:73981799-73981799 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*239A>G SNV Uncertain significance 911899 8:74894095-74894095 8:73981860-73981860 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*531C>T SNV Uncertain significance 908954 8:74894387-74894387 8:73982152-73982152 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*706C>T SNV Uncertain significance 909821 8:74894562-74894562 8:73982327-73982327 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*731C>T SNV Uncertain significance 909822 8:74894587-74894587 8:73982352-73982352 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*755C>T SNV Uncertain significance 909823 8:74894611-74894611 8:73982376-73982376 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.456G>A (p.Thr152=) SNV Likely benign 733462 8:74893529-74893529 8:73981294-73981294 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.42G>A (p.Leu14=) SNV Likely benign 513097 rs747372086 8:74888558-74888558 8:73976323-73976323 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.738T>C (p.Tyr246=) SNV Likely benign 471958 rs567090474 8:74893811-74893811 8:73981576-73981576 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*1103C>T SNV Likely benign 911943 8:74894959-74894959 8:73982724-73982724 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*1153G>A SNV Likely benign 363717 rs181595554 8:74895009-74895009 8:73982774-73982774 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*217A>C SNV Likely benign 363697 rs140080854 8:74894073-74894073 8:73981838-73981838 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*571C>T SNV Likely benign 363704 rs562758353 8:74894427-74894427 8:73982192-73982192 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.684C>G (p.Asn228Lys) SNV Benign/Likely benign 137679 rs35564486 8:74893757-74893757 8:73981522-73981522 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.379A>G (p.Thr127Ala) SNV Benign 137678 rs61734099 8:74893452-74893452 8:73981217-73981217 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.100G>C (p.Ala34Pro) SNV Benign 130598 rs8075 8:74888616-74888616 8:73976381-73976381 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.346C>G (p.Leu116Val) SNV Benign 130599 rs61732273 8:74893419-74893419 8:73981184-73981184 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.748A>G (p.Thr250Ala) SNV Benign 130600 rs1053079 8:74893821-74893821 8:73981586-73981586 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.777C>G (p.Asp259Glu) SNV Benign 130601 rs1053077 8:74893850-74893850 8:73981615-73981615 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*611T>G SNV Benign 363705 rs77116422 8:74894467-74894467 8:73982232-73982232 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*494T>C SNV Benign 363702 rs143011318 8:74894350-74894350 8:73982115-73982115 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.580G>A (p.Val194Met) SNV Benign 218747 rs77410280 8:74893653-74893653 8:73981418-73981418 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*714G>A SNV Benign 363709 rs116019026 8:74894570-74894570 8:73982335-73982335 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*904A>G SNV Benign 363713 rs59024088 8:74894760-74894760 8:73982525-73982525 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*1052G>C SNV Benign 910723 8:74894908-74894908 8:73982673-73982673 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.-53G>A SNV Benign 911838 8:74888464-74888464 8:73976229-73976229 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*785G>A SNV Benign 363711 rs66498650 8:74894641-74894641 8:73982406-73982406 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*892A>G SNV Benign 363712 rs2291217 8:74894748-74894748 8:73982513-73982513 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*502C>A SNV Benign 363703 rs76016906 8:74894358-74894358 8:73982123-73982123 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*771G>A SNV Benign 363710 rs6472811 8:74894627-74894627 8:73982392-73982392 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.-23C>T SNV Benign 363687 rs2306486 8:74888494-74888494 8:73976259-73976259 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*169A>G SNV Benign 363695 rs1053054 8:74894025-74894025 8:73981790-73981790 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 TMEM70 NM_017866.6(TMEM70):c.*24C>T SNV Benign 363693 rs7108 8:74893880-74893880 8:73981645-73981645 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 ATP5F1E NM_006886.4(ATP5F1E):c.35A>G (p.Tyr12Cys) SNV Pathogenic 30551 rs387906929 20:57605482-57605482 20:59030427-59030427 MTC030 Mitochondrial Complex V Deficiency, Nuclear Type 3 UQCRC2 NM_003366.4(UQCRC2):c.547C>T (p.Arg183Trp) SNV Pathogenic 41880 rs374661051 16:21976761-21976761 16:21965440-21965440 MTC030 Mitochondrial Complex V Deficiency, Nuclear Type 3 ATP5F1A NM_004046.6(ATP5F1A):c.985C>T (p.Arg329Cys) SNV Pathogenic 50353 rs587776960 18:43667165-43667165 18:46087199-46087199 MTC137 Mitochondrial Complex V Deficiency, Nuclear Type 4 ATP5F1D NM_001687.5(ATP5F1D):c.245C>T (p.Pro82Leu) SNV Pathogenic 453296 rs867410737 19:1242558-1242558 19:1242559-1242559 MTC141 Mitochondrial Complex V Deficiency, Nuclear Type 5 ATP5F1D NM_001687.5(ATP5F1D):c.317T>G (p.Val106Gly) SNV Pathogenic 489386 rs1555745989 19:1244117-1244117 19:1244118-1244118 MTC141 Mitochondrial Complex V Deficiency, Nuclear Type 5 ATP5MD NM_001206427.2(ATP5MD):c.87+1G>C SNV Pathogenic 694833 10:105152127-105152127 10:103392370-103392370 MTC201 Mitochondrial Complex V Deficiency, Nuclear Type 6 TRNF m.616T>C SNV Pathogenic 9576 rs387906420 MT:616-616 MT:616-616 MTC196 Mitochondrial Disease with Epilepsy TRNF m.616T>G SNV Pathogenic 9577 rs387906420 MT:616-616 MT:616-616 MTC196 Mitochondrial Disease with Epilepsy TRNH m.12192G>A SNV Benign 9608 rs3134560 MT:12192-12192 MT:12192-12192 MTC194 Mitochondrial Disease with Hypertrophic Cardiomyopathy COX3 NC_012920.1:m.7730_11255del3526 deletion Pathogenic 430677 MT:7730-11255 MT:7730-11255 MTC069 Mitochondrial Disorders ND3 NC_012920.1:m.7730_11255del3526 deletion Pathogenic 430677 MT:7730-11255 MT:7730-11255 MTC069 Mitochondrial Disorders ND4 NC_012920.1:m.7730_11255del3526 deletion Pathogenic 430677 MT:7730-11255 MT:7730-11255 MTC069 Mitochondrial Disorders ND4L NC_012920.1:m.7730_11255del3526 deletion Pathogenic 430677 MT:7730-11255 MT:7730-11255 MTC069 Mitochondrial Disorders TRNG NC_012920.1:m.7730_11255del3526 deletion Pathogenic 430677 MT:7730-11255 MT:7730-11255 MTC069 Mitochondrial Disorders TRNK NC_012920.1:m.7730_11255del3526 deletion Pathogenic 430677 MT:7730-11255 MT:7730-11255 MTC069 Mitochondrial Disorders TRNR NC_012920.1:m.7730_11255del3526 deletion Pathogenic 430677 MT:7730-11255 MT:7730-11255 MTC069 Mitochondrial Disorders ATP6 NC_012920.1:m.7730_11255del3526 deletion Pathogenic 430677 MT:7730-11255 MT:7730-11255 MTC069 Mitochondrial Disorders ATP8 NC_012920.1:m.7730_11255del3526 deletion Pathogenic 430677 MT:7730-11255 MT:7730-11255 MTC069 Mitochondrial Disorders COX2 NC_012920.1:m.7730_11255del3526 deletion Pathogenic 430677 MT:7730-11255 MT:7730-11255 MTC069 Mitochondrial Disorders COX2 NC_012920.1:m.7989T>C SNV Pathogenic 430690 rs1131692064 MT:7989-7989 MT:7989-7989 MTC069 Mitochondrial Disorders GFM2 NM_032380.5(GFM2):c.636del (p.Glu213fs) deletion Pathogenic 440787 rs746538436 5:74041963-74041963 5:74746138-74746138 MTC069 Mitochondrial Disorders GFM2 NM_032380.5(GFM2):c.275A>C (p.Tyr92Ser) SNV Pathogenic 440788 rs1554042187 5:74054703-74054703 5:74758878-74758878 MTC069 Mitochondrial Disorders TOP3A NM_004618.5(TOP3A):c.403C>T (p.Arg135Ter) SNV Pathogenic 446286 rs200944917 17:18208522-18208522 17:18305208-18305208 MTC069 Mitochondrial Disorders TOP3A NM_004618.5(TOP3A):c.298A>G (p.Met100Val) SNV Pathogenic 446285 rs376902371 17:18211681-18211681 17:18308367-18308367 MTC069 Mitochondrial Disorders NDUFA6 NM_002490.6(NDUFA6):c.331_332del (p.Glu111fs) deletion Pathogenic 487475 rs1569463838 22:42482242-42482243 22:42086238-42086239 MTC069 Mitochondrial Disorders NDUFA6 NM_002490.6(NDUFA6):c.265G>T (p.Glu89Ter) SNV Pathogenic 487478 rs758833609 22:42482309-42482309 22:42086305-42086305 MTC069 Mitochondrial Disorders NDUFA6 NM_002490.6(NDUFA6):c.191G>C (p.Arg64Pro) SNV Pathogenic 487477 rs750830935 22:42483128-42483128 22:42087124-42087124 MTC069 Mitochondrial Disorders NDUFA6 NM_002490.6(NDUFA6):c.3G>A (p.Met1Ile) SNV Pathogenic 487476 rs1023075742 22:42486746-42486746 22:42090742-42090742 MTC069 Mitochondrial Disorders ATP5F1D NM_001687.5(ATP5F1D):c.317T>G (p.Val106Gly) SNV Pathogenic 489386 rs1555745989 19:1244117-1244117 19:1244118-1244118 MTC069 Mitochondrial Disorders TWNK NM_021830.5(TWNK):c.1374G>T (p.Gln458His) SNV Pathogenic 426104 rs1554887213 10:102749531-102749531 10:100989774-100989774 MTC069 Mitochondrial Disorders TWNK NM_021830.5(TWNK):c.1391T>C (p.Leu464Pro) SNV Pathogenic 426105 rs1554887222 10:102749548-102749548 10:100989791-100989791 MTC069 Mitochondrial Disorders YARS2 NM_001040436.3(YARS2):c.1147_1164dup (p.Val383_Glu388dup) duplication Pathogenic 426099 rs775256289 12:32902980-32902981 12:32750046-32750047 MTC069 Mitochondrial Disorders YARS2 NM_001040436.3(YARS2):c.1106G>A (p.Cys369Tyr) SNV Pathogenic 426098 rs1365700579 12:32903039-32903039 12:32750105-32750105 MTC069 Mitochondrial Disorders POLG NM_002693.2(POLG):c.3550G>A (p.Asp1184Asn) SNV Pathogenic 426100 rs1131691575 15:89860700-89860700 15:89317469-89317469 MTC069 Mitochondrial Disorders GFER NM_005262.3(GFER):c.586C>T (p.Arg196Cys) SNV Pathogenic 426097 rs370475970 16:2035997-2035997 16:1985996-1985996 MTC069 Mitochondrial Disorders ND6 NC_012920.1:m.11263_15374del4112 deletion Pathogenic 430685 MT:11263-15374 MT:11263-15374 MTC069 Mitochondrial Disorders TRNE NC_012920.1:m.11263_15374del4112 deletion Pathogenic 430685 MT:11263-15374 MT:11263-15374 MTC069 Mitochondrial Disorders TRNH NC_012920.1:m.11263_15374del4112 deletion Pathogenic 430685 MT:11263-15374 MT:11263-15374 MTC069 Mitochondrial Disorders TRNL2 NC_012920.1:m.11263_15374del4112 deletion Pathogenic 430685 MT:11263-15374 MT:11263-15374 MTC069 Mitochondrial Disorders TRNS2 NC_012920.1:m.11263_15374del4112 deletion Pathogenic 430685 MT:11263-15374 MT:11263-15374 MTC069 Mitochondrial Disorders CYTB NC_012920.1:m.11263_15374del4112 deletion Pathogenic 430685 MT:11263-15374 MT:11263-15374 MTC069 Mitochondrial Disorders ND4 NC_012920.1:m.11263_15374del4112 deletion Pathogenic 430685 MT:11263-15374 MT:11263-15374 MTC069 Mitochondrial Disorders ND5 NC_012920.1:m.11263_15374del4112 deletion Pathogenic 430685 MT:11263-15374 MT:11263-15374 MTC069 Mitochondrial Disorders TRNH NC_012920.1:m.12114_14420del2307 deletion Pathogenic 430686 MT:12114-14420 MT:12114-14420 MTC069 Mitochondrial Disorders TRNL2 NC_012920.1:m.12114_14420del2307 deletion Pathogenic 430686 MT:12114-14420 MT:12114-14420 MTC069 Mitochondrial Disorders TRNS2 NC_012920.1:m.12114_14420del2307 deletion Pathogenic 430686 MT:12114-14420 MT:12114-14420 MTC069 Mitochondrial Disorders ND4 NC_012920.1:m.12114_14420del2307 deletion Pathogenic 430686 MT:12114-14420 MT:12114-14420 MTC069 Mitochondrial Disorders ND5 NC_012920.1:m.12114_14420del2307 deletion Pathogenic 430686 MT:12114-14420 MT:12114-14420 MTC069 Mitochondrial Disorders ND6 NC_012920.1:m.12114_14420del2307 deletion Pathogenic 430686 MT:12114-14420 MT:12114-14420 MTC069 Mitochondrial Disorders TRNL2 NC_012920.1:m.12271T>C SNV Pathogenic 430687 rs1131692061 MT:12271-12271 MT:12271-12271 MTC069 Mitochondrial Disorders TRNL2 NC_012920.1:m.12283G>A SNV Pathogenic 430688 rs1131692062 MT:12283-12283 MT:12283-12283 MTC069 Mitochondrial Disorders NDUFA6 NM_002490.6(NDUFA6):c.355del (p.Leu119fs) deletion Pathogenic 549666 rs781099275 22:42482219-42482219 22:42086215-42086215 MTC069 Mitochondrial Disorders NDUFA6 NM_002490.6(NDUFA6):c.309del (p.Met104fs) deletion Pathogenic 549665 rs763006208 22:42482265-42482265 22:42086261-42086261 MTC069 Mitochondrial Disorders OXA1L NM_005015.5(OXA1L):c.320_327dup (p.Ser110fs) duplication Pathogenic 560159 rs1566433812 14:23237259-23237260 14:22768050-22768051 MTC069 Mitochondrial Disorders OXA1L NM_005015.5(OXA1L):c.440G>T (p.Cys147Phe) SNV Pathogenic 560160 rs772751581 14:23239000-23239000 14:22769791-22769791 MTC069 Mitochondrial Disorders OPA1 NM_015560.2(OPA1):c.1198C>T (p.Pro400Ser) SNV Pathogenic 426101 rs1553877864 3:193361219-193361219 3:193643430-193643430 MTC069 Mitochondrial Disorders NDUFAF8 NM_001086521.2(NDUFAF8):c.1A>G (p.Met1Val) SNV Pathogenic 691643 17:79213164-79213164 17:81239364-81239364 MTC069 Mitochondrial Disorders NDUFAF8 NM_001086521.2(NDUFAF8):c.45_52dup (p.Phe18fs) duplication Pathogenic 691644 17:79213202-79213203 17:81239402-81239403 MTC069 Mitochondrial Disorders ND6 NC_012920.1:m.14513_14514del deletion Pathogenic 800503 MT:14512-14513 MT:14512-14513 MTC069 Mitochondrial Disorders ND1 NC_012920.1:m.3761C>A SNV Pathogenic 800504 MT:3761-3761 MT:3761-3761 MTC069 Mitochondrial Disorders TRNF NC_012920.1(MT-CYB):m.590A>G SNV Pathogenic 870573 MT:590-590 MT:590-590 MTC069 Mitochondrial Disorders TRNP NC_012920.1:m.15958A>T SNV Pathogenic 870596 MT:15958-15958 MT:15958-15958 MTC069 Mitochondrial Disorders TWNK NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr) SNV Pathogenic 4618 rs111033573 10:102749042-102749042 10:100989285-100989285 MTC069 Mitochondrial Disorders TWNK NM_021830.5(TWNK):c.1142T>C (p.Leu381Pro) SNV Pathogenic 4622 rs111033577 10:102749109-102749109 10:100989352-100989352 MTC069 Mitochondrial Disorders TWNK NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln) SNV Pathogenic 4623 rs28937887 10:102748968-102748968 10:100989211-100989211 MTC069 Mitochondrial Disorders OPA1 NM_015560.2(OPA1):c.2708_2711delTTAG deletion Pathogenic 5082 rs80356530 3:193384957-193384960 3:193667168-193667171 MTC069 Mitochondrial Disorders OPA1 NM_015560.2(OPA1):c.1334G>A (p.Arg445His) SNV Pathogenic 5091 rs80356529 3:193361785-193361785 3:193643996-193643996 MTC069 Mitochondrial Disorders TRNK m.8344A>G SNV Pathogenic 9579 rs118192098 MT:8344-8344 MT:8344-8344 MTC069 Mitochondrial Disorders TRNL1 NC_012920.1:m.3243A>G SNV Pathogenic 9589 rs199474657 MT:3243-3243 MT:3243-3243 MTC069 Mitochondrial Disorders ATP6 NC_012920.1:m.8993T>G SNV Pathogenic 9641 rs199476133 MT:8993-8993 MT:8993-8993 MTC069 Mitochondrial Disorders ATP6 NC_012920.1:m.8993T>C SNV Pathogenic 9642 rs199476133 MT:8993-8993 MT:8993-8993 MTC069 Mitochondrial Disorders ATP6 NC_012920.1:m.9185T>C SNV Pathogenic 9647 rs199476138 MT:9185-9185 MT:9185-9185 MTC069 Mitochondrial Disorders ND5 m.13513G>A SNV Pathogenic 9702 rs267606897 MT:13513-13513 MT:13513-13513 MTC069 Mitochondrial Disorders POLG NM_002693.2(POLG):c.2864A>G (p.Tyr955Cys) SNV Pathogenic 13495 rs113994099 15:89864114-89864114 15:89320883-89320883 MTC069 Mitochondrial Disorders POLG NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) SNV Pathogenic 13496 rs113994095 15:89870432-89870432 15:89327201-89327201 MTC069 Mitochondrial Disorders NDUFAF8 NM_001086521.2(NDUFAF8):c.195+271C>T SNV Pathogenic 691642 17:79213749-79213749 17:81239949-81239949 MTC069 Mitochondrial Disorders POLG NM_002693.2(POLG):c.3488T>G (p.Met1163Arg) SNV Pathogenic 21314 rs113994100 15:89860762-89860762 15:89317531-89317531 MTC069 Mitochondrial Disorders POLG NM_002693.2(POLG):c.3630dup (p.Gly1211fs) duplication Pathogenic 21315 rs113994101 15:89860619-89860620 15:89317388-89317389 MTC069 Mitochondrial Disorders POLG NM_002693.2(POLG):c.695G>A (p.Arg232His) SNV Pathogenic 21319 rs113994093 15:89873472-89873472 15:89330241-89330241 MTC069 Mitochondrial Disorders RRM2B NM_001172477.1(RRM2B):c.1166del (p.Ser388_Leu389insTer) deletion Pathogenic 30432 rs515726199 8:103220467-103220467 8:102208239-102208239 MTC069 Mitochondrial Disorders OPA1 NM_015560.2(OPA1):c.1294A>G (p.Ile432Val) SNV Pathogenic 30460 rs387906899 3:193361398-193361398 3:193643609-193643609 MTC069 Mitochondrial Disorders OPA1 NM_015560.2(OPA1):c.1635C>G (p.Ser545Arg) SNV Pathogenic 30461 rs398124298 3:193364899-193364899 3:193647110-193647110 MTC069 Mitochondrial Disorders RRM2B NM_001172477.1(RRM2B):c.-5G>A SNV Pathogenic 132103 rs515726180 8:103251055-103251055 8:102238827-102238827 MTC069 Mitochondrial Disorders RMND1 NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser) SNV Pathogenic 143051 rs115079861 6:151726371-151726371 6:151405236-151405236 MTC069 Mitochondrial Disorders ATP6 NC_012920.1:m.8839G>C SNV Pathogenic 155892 rs1556423547 MT:8839-8839 MT:8839-8839 MTC069 Mitochondrial Disorders SPG7 NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter) SNV Pathogenic 188276 rs369227537 16:89616910-89616910 16:89550502-89550502 MTC069 Mitochondrial Disorders SPG7 NM_003119.4(SPG7):c.861dup (p.Asn288Ter) duplication Pathogenic 212294 rs797046003 16:89595983-89595984 16:89529575-89529576 MTC069 Mitochondrial Disorders RMND1 NM_017909.4(RMND1):c.1250G>A (p.Arg417Gln) SNV Pathogenic 39765 rs397515421 6:151726922-151726922 6:151405787-151405787 MTC069 Mitochondrial Disorders TRMT10C NM_017819.4(TRMT10C):c.542G>T (p.Arg181Leu) SNV Pathogenic 224316 rs199730889 3:101284167-101284167 3:101565323-101565323 MTC069 Mitochondrial Disorders TRMT10C NM_017819.4(TRMT10C):c.814A>G (p.Thr272Ala) SNV Pathogenic 224317 rs875989831 3:101284439-101284439 3:101565595-101565595 MTC069 Mitochondrial Disorders RMND1 NM_017909.4(RMND1):c.1317+1G>T SNV Pathogenic 225259 rs886037773 6:151726854-151726854 6:151405719-151405719 MTC069 Mitochondrial Disorders RMND1 NM_017909.4(RMND1):c.1303C>T (p.Leu435Phe) SNV Pathogenic 225256 rs886037771 6:151726869-151726869 6:151405734-151405734 MTC069 Mitochondrial Disorders RMND1 NM_017909.4(RMND1):c.830+1G>A SNV Pathogenic 225261 rs773470671 6:151748616-151748616 6:151427481-151427481 MTC069 Mitochondrial Disorders RMND1 NM_017909.4(RMND1):c.631G>A (p.Val211Met) SNV Pathogenic 225260 rs771894262 6:151754348-151754348 6:151433213-151433213 MTC069 Mitochondrial Disorders RMND1 NM_017909.4(RMND1):c.565C>T (p.Gln189Ter) SNV Pathogenic 225257 rs886037772 6:151757629-151757629 6:151436494-151436494 MTC069 Mitochondrial Disorders RMND1 NM_017909.4(RMND1):c.533C>A (p.Thr178Lys) SNV Pathogenic 225258 rs370863743 6:151757661-151757661 6:151436526-151436526 MTC069 Mitochondrial Disorders TMEM126B NM_018480.5(TMEM126B):c.401del (p.Asn134fs) deletion Pathogenic 236208 rs886037835 11:85346713-85346713 11:85635669-85635669 MTC069 Mitochondrial Disorders SLC25A4 NM_001151.4(SLC25A4):c.239G>A (p.Arg80His) SNV Pathogenic 253037 rs886041081 4:186066045-186066045 4:185144891-185144891 MTC069 Mitochondrial Disorders SLC25A4 NM_001151.4(SLC25A4):c.703C>G (p.Arg235Gly) SNV Pathogenic 253038 rs886041082 4:186067017-186067017 4:185145863-185145863 MTC069 Mitochondrial Disorders TWNK NM_021830.5(TWNK):c.1121G>A (p.Arg374Gln) SNV Pathogenic/Likely pathogenic 426106 rs1554887097 10:102749088-102749088 10:100989331-100989331 MTC069 Mitochondrial Disorders POLG NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) SNV Pathogenic/Likely pathogenic 13513 rs121918054 15:89866691-89866691 15:89323460-89323460 MTC069 Mitochondrial Disorders TRNE m.14709T>C SNV Pathogenic/Likely pathogenic 9617 rs121434453 MT:14709-14709 MT:14709-14709 MTC069 Mitochondrial Disorders TRNE m.14674T>C SNV Pathogenic/Likely pathogenic 9618 rs387906421 MT:14674-14674 MT:14674-14674 MTC069 Mitochondrial Disorders COQ8A NM_020247.5(COQ8A):c.1029_1030delinsCA (p.Gln343_Val344delinsHisMet) indel Likely pathogenic 691646 1:227170684-227170685 1:226982983-226982984 MTC069 Mitochondrial Disorders COQ8A NC_000001.11:g.226978131_226982653del deletion Likely pathogenic 691645 MTC069 Mitochondrial Disorders NDUFAF8 NM_001086521.2(NDUFAF8):c.165C>G (p.Phe55Leu) SNV Likely pathogenic 691641 17:79213448-79213448 17:81239648-81239648 MTC069 Mitochondrial Disorders ND5 NC_012920.1:m.13051G>A SNV Likely pathogenic 430689 rs1131692063 MT:13051-13051 MT:13051-13051 MTC069 Mitochondrial Disorders ND4 NC_012920.1:m.11467A>G SNV Likely pathogenic 522716 rs2853493 MT:11467-11467 MT:11467-11467 MTC069 Mitochondrial Disorders ND5 NC_012920.1:m.12372G>A SNV Likely pathogenic 522717 rs2853499 MT:12372-12372 MT:12372-12372 MTC069 Mitochondrial Disorders COQ8A NM_020247.5(COQ8A):c.1015G>A (p.Ala339Thr) SNV Likely pathogenic 225002 rs755933881 1:227170670-227170670 1:226982969-226982969 MTC069 Mitochondrial Disorders GFM2 NM_032380.5(GFM2):c.569G>A (p.Arg190Gln) SNV Likely pathogenic 214509 rs761283105 5:74043556-74043556 5:74747731-74747731 MTC069 Mitochondrial Disorders GFER NM_005262.3(GFER):c.199del (p.Arg67fs) deletion Likely pathogenic 214476 rs863224028 16:2034416-2034416 16:1984415-1984415 MTC069 Mitochondrial Disorders POLG NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) SNV Conflicting interpretations of pathogenicity 65665 rs61752783 15:89870178-89870178 15:89326947-89326947 MTC069 Mitochondrial Disorders RMND1 NM_017909.4(RMND1):c.713A>G (p.Asn238Ser) SNV Conflicting interpretations of pathogenicity 225255 rs144972972 6:151751289-151751289 6:151430154-151430154 MTC069 Mitochondrial Disorders TRNP m.15923A>G SNV Conflicting interpretations of pathogenicity 39575 rs1556424691 MT:15923-15923 MT:15923-15923 MTC069 Mitochondrial Disorders TRNT m.15923A>G SNV Conflicting interpretations of pathogenicity 39575 rs1556424691 MT:15923-15923 MT:15923-15923 MTC069 Mitochondrial Disorders TWNK NM_021830.5(TWNK):c.1003C>A (p.Pro335Thr) SNV Conflicting interpretations of pathogenicity 426102 rs1554887028 10:102748970-102748970 10:100989213-100989213 MTC069 Mitochondrial Disorders SLC25A4 NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) SNV Conflicting interpretations of pathogenicity 18249 rs121912683 4:186066174-186066174 4:185145020-185145020 MTC069 Mitochondrial Disorders POLG NM_002693.2(POLG):c.970C>T (p.Pro324Ser) SNV Conflicting interpretations of pathogenicity 21320 rs2307437 15:89872227-89872227 15:89328996-89328996 MTC069 Mitochondrial Disorders POLG NM_002693.2(POLG):c.578G>A (p.Arg193Gln) SNV Conflicting interpretations of pathogenicity 21318 rs3176162 15:89876408-89876408 15:89333177-89333177 MTC069 Mitochondrial Disorders POLG NM_002693.2(POLG):c.3436C>T (p.Arg1146Cys) SNV Conflicting interpretations of pathogenicity 21313 rs2307440 15:89861818-89861818 15:89318587-89318587 MTC069 Mitochondrial Disorders POLG NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) SNV Conflicting interpretations of pathogenicity 13505 rs113994096 15:89868870-89868870 15:89325639-89325639 MTC069 Mitochondrial Disorders POLG NM_001126131.2(POLG):c.2243G>C (p.Trp748Ser) SNV Conflicting interpretations of pathogenicity 13507 rs113994097 15:89866657-89866657 15:89323426-89323426 MTC069 Mitochondrial Disorders POLG NM_002693.2(POLG):c.3424C>T (p.Arg1142Trp) SNV Uncertain significance 21311 rs2307442 15:89861830-89861830 15:89318599-89318599 MTC069 Mitochondrial Disorders ND2 NC_012920.1:m.4935A>G SNV Uncertain significance 692523 MT:4935-4935 MT:4935-4935 MTC069 Mitochondrial Disorders TRNL2 NC_012920.1(MT-CYB):m.12293G>A SNV Uncertain significance 690189 MT:12293-12293 MT:12293-12293 MTC069 Mitochondrial Disorders TRNI NC_012920.1(MT-CYB):m.4327T>C SNV Uncertain significance 689885 MT:4327-4327 MT:4327-4327 MTC069 Mitochondrial Disorders TRNN NC_012920.1(MT-CYB):m.5672T>C SNV Uncertain significance 689973 MT:5672-5672 MT:5672-5672 MTC069 Mitochondrial Disorders ATP6 NC_012920.1:m.9166T>C SNV Uncertain significance 370051 rs1057516063 MT:9166-9166 MT:9166-9166 MTC069 Mitochondrial Disorders TMEM126B NM_018480.5(TMEM126B):c.635G>T (p.Gly212Val) SNV Uncertain significance 236209 rs141542003 11:85347215-85347215 11:85636171-85636171 MTC069 Mitochondrial Disorders POLG NM_002693.2(POLG):c.1636C>T (p.Arg546Cys) SNV Benign/Likely benign 21309 rs2307447 15:89869919-89869919 15:89326688-89326688 MTC069 Mitochondrial Disorders FANCI NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) SNV Benign/Likely benign 21312 rs2307441 15:89861826-89861826 15:89318595-89318595 MTC069 Mitochondrial Disorders POLG NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) SNV Benign/Likely benign 21312 rs2307441 15:89861826-89861826 15:89318595-89318595 MTC069 Mitochondrial Disorders FANCI NM_002693.2(POLG):c.3708G>T (p.Gln1236His) SNV Benign/Likely benign 21316 rs3087374 15:89859994-89859994 15:89316763-89316763 MTC069 Mitochondrial Disorders POLG NM_002693.2(POLG):c.3708G>T (p.Gln1236His) SNV Benign/Likely benign 21316 rs3087374 15:89859994-89859994 15:89316763-89316763 MTC069 Mitochondrial Disorders POLG NM_002693.2(POLG):c.52C>T (p.Pro18Ser) SNV Benign 21317 rs3087373 15:89876934-89876934 15:89333703-89333703 MTC069 Mitochondrial Disorders POLG NM_002693.2(POLG):c.1984G>A (p.Glu662Lys) SNV Benign 21310 rs2307450 15:89867424-89867424 15:89324193-89324193 MTC069 Mitochondrial Disorders ATP6 NC_012920.1:m.8686T>C SNV Uncertain significance 585120 rs1569484231 MT:8686-8686 MT:8686-8686 MTC015 Mitochondrial Dna-Associated Leigh Syndrome and Narp FBXL4 NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter) SNV Pathogenic 66091 rs201889294 6:99347158-99347158 6:98899282-98899282 MTC010 Mitochondrial Dna Depletion Syndrome TK2 NM_004614.5(TK2):c.416C>T (p.Ala139Val) SNV Pathogenic/Likely pathogenic 38990 rs281865494 16:66562930-66562930 16:66529027-66529027 MTC010 Mitochondrial Dna Depletion Syndrome FBXL4 NM_001278716.2(FBXL4):c.1012G>T (p.Glu338Ter) SNV Likely pathogenic 666968 6:99353393-99353393 6:98905517-98905517 MTC010 Mitochondrial Dna Depletion Syndrome SUCLG1 NM_003849.4(SUCLG1):c.590-6G>A SNV Conflicting interpretations of pathogenicity 337155 rs200107730 2:84660565-84660565 2:84433441-84433441 MTC010 Mitochondrial Dna Depletion Syndrome SUCLG1 NM_003849.4(SUCLG1):c.345T>C (p.Ala115=) SNV Conflicting interpretations of pathogenicity 337157 rs374594774 2:84668557-84668557 2:84441433-84441433 MTC010 Mitochondrial Dna Depletion Syndrome SUCLG1 NM_003849.3(SUCLG1):c.-39C>G SNV Conflicting interpretations of pathogenicity 337164 rs144946502 2:84686432-84686432 2:84459308-84459308 MTC010 Mitochondrial Dna Depletion Syndrome SUCLG1 NM_003849.4(SUCLG1):c.202-4T>C SNV Conflicting interpretations of pathogenicity 139369 rs141973418 2:84670528-84670528 2:84443404-84443404 MTC010 Mitochondrial Dna Depletion Syndrome MPV17 NM_002437.5(MPV17):c.27G>T (p.Arg9=) SNV Conflicting interpretations of pathogenicity 195172 rs35244252 2:27545358-27545358 2:27322491-27322491 MTC010 Mitochondrial Dna Depletion Syndrome SUCLG1 NM_003849.4(SUCLG1):c.900C>T (p.Ala300=) SNV Conflicting interpretations of pathogenicity 203967 rs113840224 2:84652653-84652653 2:84425529-84425529 MTC010 Mitochondrial Dna Depletion Syndrome SUCLG1 NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp) SNV Conflicting interpretations of pathogenicity 203970 rs143030960 2:84670490-84670490 2:84443366-84443366 MTC010 Mitochondrial Dna Depletion Syndrome SUCLG1 NM_003849.4(SUCLG1):c.110G>C (p.Gly37Ala) SNV Conflicting interpretations of pathogenicity 203968 rs369610897 2:84676864-84676864 2:84449740-84449740 MTC010 Mitochondrial Dna Depletion Syndrome POLG NM_002693.3(POLG):c.830A>T (p.His277Leu) SNV Conflicting interpretations of pathogenicity 206583 rs138929605 15:89873337-89873337 15:89330106-89330106 MTC010 Mitochondrial Dna Depletion Syndrome POLG NM_002693.2(POLG):c.391T>C (p.Tyr131His) SNV Conflicting interpretations of pathogenicity 206492 rs562847013 15:89876595-89876595 15:89333364-89333364 MTC010 Mitochondrial Dna Depletion Syndrome SUCLG1 NM_003849.4(SUCLG1):c.242A>G (p.Lys81Arg) SNV Conflicting interpretations of pathogenicity 337158 rs564792232 2:84670484-84670484 2:84443360-84443360 MTC010 Mitochondrial Dna Depletion Syndrome SUCLG1 NM_003849.4(SUCLG1):c.101C>T (p.Pro34Leu) SNV Uncertain significance 337160 rs149809280 2:84676873-84676873 2:84449749-84449749 MTC010 Mitochondrial Dna Depletion Syndrome SUCLG1 NM_003849.3(SUCLG1):c.-150T>A SNV Uncertain significance 337169 rs886056354 2:84686543-84686543 2:84459419-84459419 MTC010 Mitochondrial Dna Depletion Syndrome SUCLG1 NM_003849.3(SUCLG1):c.-186G>A SNV Uncertain significance 337170 rs143151382 2:84686579-84686579 2:84459455-84459455 MTC010 Mitochondrial Dna Depletion Syndrome RRM2B NM_001172477.1(RRM2B):c.*2613del deletion Uncertain significance 361143 rs886062563 8:103217748-103217748 8:102205520-102205520 MTC010 Mitochondrial Dna Depletion Syndrome RRM2B NM_001172477.1(RRM2B):c.*2328A>T SNV Uncertain significance 361147 rs886062565 8:103218033-103218033 8:102205805-102205805 MTC010 Mitochondrial Dna Depletion Syndrome SUCLG1 NM_003849.4(SUCLG1):c.*38C>T SNV Uncertain significance 337151 rs369617521 2:84650832-84650832 2:84423708-84423708 MTC010 Mitochondrial Dna Depletion Syndrome SUCLG1 NM_003849.4(SUCLG1):c.959G>A (p.Ser320Asn) SNV Uncertain significance 337154 rs146834097 2:84652594-84652594 2:84425470-84425470 MTC010 Mitochondrial Dna Depletion Syndrome TWNK NM_021830.5(TWNK):c.*803A>G SNV Uncertain significance 298521 rs886046640 10:102754070-102754070 10:100994313-100994313 MTC010 Mitochondrial Dna Depletion Syndrome TK2 NM_004614.5(TK2):c.*1758_*1759insTT insertion Uncertain significance 320130 rs886052195 16:66544112-66544113 16:66510209-66510210 MTC010 Mitochondrial Dna Depletion Syndrome TK2 NM_004614.5(TK2):c.*1756_*1757dup duplication Uncertain significance 320132 rs34931863 16:66544113-66544114 16:66510210-66510211 MTC010 Mitochondrial Dna Depletion Syndrome TK2 NM_004614.5(TK2):c.*1591dup duplication Uncertain significance 320139 rs886052201 16:66544279-66544280 16:66510376-66510377 MTC010 Mitochondrial Dna Depletion Syndrome SUCLA2 NM_003850.2(SUCLA2):c.*297_*299delTTC short repeat Uncertain significance 312260 rs886050259 13:48517207-48517209 13:47943072-47943074 MTC010 Mitochondrial Dna Depletion Syndrome SUCLA2 NM_003850.2(SUCLA2):c.*714dup duplication Uncertain significance 312252 rs563064046 13:48516791-48516792 13:47942656-47942657 MTC010 Mitochondrial Dna Depletion Syndrome TK2 NM_004614.5(TK2):c.*2122G>A SNV Uncertain significance 320128 rs193271947 16:66543749-66543749 16:66509846-66509846 MTC010 Mitochondrial Dna Depletion Syndrome SUCLA2 NM_003850.2(SUCLA2):c.*195A>G SNV Uncertain significance 312264 rs886050260 13:48517311-48517311 13:47943176-47943176 MTC010 Mitochondrial Dna Depletion Syndrome SUCLA2 NM_003850.2(SUCLA2):c.*35T>G SNV Uncertain significance 312265 rs886050261 13:48517471-48517471 13:47943336-47943336 MTC010 Mitochondrial Dna Depletion Syndrome TK2 NM_004614.5(TK2):c.*1758del deletion Uncertain significance 320131 rs886052196 16:66544113-66544113 16:66510210-66510210 MTC010 Mitochondrial Dna Depletion Syndrome TK2 NM_004614.5(TK2):c.*1739_*1740insC insertion Uncertain significance 320133 rs886052197 16:66544131-66544132 16:66510228-66510229 MTC010 Mitochondrial Dna Depletion Syndrome TK2 NM_004614.5(TK2):c.*1758_*1759insT insertion Uncertain significance 320129 rs886052195 16:66544112-66544113 16:66510209-66510210 MTC010 Mitochondrial Dna Depletion Syndrome TWNK NM_021830.5(TWNK):c.-105T>C SNV Uncertain significance 298493 rs886046629 10:102747863-102747863 10:100988106-100988106 MTC010 Mitochondrial Dna Depletion Syndrome TWNK NM_021830.5(TWNK):c.274G>A (p.Gly92Ser) SNV Uncertain significance 298496 rs886046630 10:102748241-102748241 10:100988484-100988484 MTC010 Mitochondrial Dna Depletion Syndrome RRM2B NM_001172477.1(RRM2B):c.*2492_*2496AAGTT[1] short repeat Uncertain significance 361145 rs886062564 8:103217860-103217864 8:102205632-102205636 MTC010 Mitochondrial Dna Depletion Syndrome RRM2B NM_001172477.1(RRM2B):c.*74del deletion Uncertain significance 361173 rs886062569 8:103220287-103220287 8:102208059-102208059 MTC010 Mitochondrial Dna Depletion Syndrome SUCLG1 NM_003849.4(SUCLG1):c.*13del deletion Uncertain significance 337152 rs527774382 2:84650857-84650857 2:84423733-84423733 MTC010 Mitochondrial Dna Depletion Syndrome MPV17 NM_002437.5(MPV17):c.*80C>T SNV Uncertain significance 335524 rs200529035 2:27532700-27532700 2:27309832-27309832 MTC010 Mitochondrial Dna Depletion Syndrome MPV17 NM_002437.5(MPV17):c.164T>C (p.Val55Ala) SNV Uncertain significance 335527 rs575558175 2:27535883-27535883 2:27313016-27313016 MTC010 Mitochondrial Dna Depletion Syndrome DGUOK NM_080916.2(DGUOK):c.-54C>A SNV Uncertain significance 337041 rs753666732 2:74153984-74153984 2:73926857-73926857 MTC010 Mitochondrial Dna Depletion Syndrome DGUOK NM_080916.3(DGUOK):c.592-9del deletion Uncertain significance 337048 rs749290011 2:74184243-74184243 2:73957116-73957116 MTC010 Mitochondrial Dna Depletion Syndrome DGUOK NM_080918.3(DGUOK):c.444-907AAGT[3] short repeat Uncertain significance 337051 rs774323790 2:74184365-74184366 2:73957238-73957239 MTC010 Mitochondrial Dna Depletion Syndrome DGUOK NM_080916.3(DGUOK):c.*206_*210dup duplication Uncertain significance 337053 rs554820333 2:74186065-74186066 2:73958938-73958939 MTC010 Mitochondrial Dna Depletion Syndrome SUCLG1 NM_003849.4(SUCLG1):c.*218A>G SNV Uncertain significance 337147 rs570310549 2:84650652-84650652 2:84423528-84423528 MTC010 Mitochondrial Dna Depletion Syndrome SUCLG1 NM_003849.4(SUCLG1):c.395C>G (p.Ala132Gly) SNV Uncertain significance 337156 rs376171433 2:84668507-84668507 2:84441383-84441383 MTC010 Mitochondrial Dna Depletion Syndrome SUCLG1 NM_003849.4(SUCLG1):c.98-10_98-8del deletion Uncertain significance 337161 rs886056350 2:84676884-84676886 2:84449760-84449762 MTC010 Mitochondrial Dna Depletion Syndrome SUCLG1 NM_003849.3(SUCLG1):c.-39C>A SNV Uncertain significance 337165 rs144946502 2:84686432-84686432 2:84459308-84459308 MTC010 Mitochondrial Dna Depletion Syndrome MPV17 NM_002437.5(MPV17):c.*194G>A SNV Uncertain significance 335522 rs886055895 2:27532586-27532586 2:27309718-27309718 MTC010 Mitochondrial Dna Depletion Syndrome DGUOK NM_080916.2(DGUOK):c.-60_-57dupGCGA duplication Uncertain significance 337040 rs567251538 2:74153976-74153977 2:73926849-73926850 MTC010 Mitochondrial Dna Depletion Syndrome SUCLG1 NM_003849.4(SUCLG1):c.1028G>C (p.Arg343Thr) SNV Uncertain significance 337153 rs748995693 2:84650883-84650883 2:84423759-84423759 MTC010 Mitochondrial Dna Depletion Syndrome SUCLG1 NM_003849.4(SUCLG1):c.201+8T>A SNV Uncertain significance 337159 rs764185628 2:84676765-84676765 2:84449641-84449641 MTC010 Mitochondrial Dna Depletion Syndrome POLG NM_002693.2(POLG):c.641C>T (p.Ala214Val) SNV Uncertain significance 405572 rs948866053 15:89876345-89876345 15:89333114-89333114 MTC010 Mitochondrial Dna Depletion Syndrome SUCLG1 NM_003849.4(SUCLG1):c.98-15_98-14insAACC insertion Uncertain significance 337163 rs886056352 2:84676890-84676891 2:84449766-84449767 MTC010 Mitochondrial Dna Depletion Syndrome SUCLG1 NM_003849.3(SUCLG1):c.-71G>T SNV Uncertain significance 337166 rs886056353 2:84686464-84686464 2:84459340-84459340 MTC010 Mitochondrial Dna Depletion Syndrome SUCLG1 NM_003849.3(SUCLG1):c.-107A>G SNV Uncertain significance 337167 rs140936198 2:84686500-84686500 2:84459376-84459376 MTC010 Mitochondrial Dna Depletion Syndrome SUCLG1 NM_003849.3(SUCLG1):c.-133C>T SNV Likely benign 337168 rs12621740 2:84686526-84686526 2:84459402-84459402 MTC010 Mitochondrial Dna Depletion Syndrome TWNK NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln) SNV Likely benign 279716 rs369223258 10:102753262-102753262 10:100993505-100993505 MTC010 Mitochondrial Dna Depletion Syndrome TWNK NM_021830.5(TWNK):c.-306_-305GT[1] short repeat Likely benign 298490 rs146265037 10:102747661-102747662 10:100987904-100987905 MTC010 Mitochondrial Dna Depletion Syndrome RRM2B NM_001172477.1(RRM2B):c.*3003_*3004del deletion Likely benign 361134 rs552260099 8:103217357-103217358 8:102205129-102205130 MTC010 Mitochondrial Dna Depletion Syndrome RRM2B NM_001172477.1(RRM2B):c.*2151_*2152insA insertion Likely benign 361149 rs563908556 8:103218209-103218210 8:102205981-102205982 MTC010 Mitochondrial Dna Depletion Syndrome TWNK NM_021830.5(TWNK):c.*472_*473GA[2] short repeat Likely benign 298512 rs370783985 10:102753738-102753739 10:100993981-100993982 MTC010 Mitochondrial Dna Depletion Syndrome SUCLG1 NM_003849.4(SUCLG1):c.*55G>C SNV Likely benign 337150 rs80166442 2:84650815-84650815 2:84423691-84423691 MTC010 Mitochondrial Dna Depletion Syndrome SUCLG1 NM_003849.4(SUCLG1):c.*207A>G SNV Benign/Likely benign 337148 rs73942653 2:84650663-84650663 2:84423539-84423539 MTC010 Mitochondrial Dna Depletion Syndrome DGUOK NM_080916.2(DGUOK):c.-48G>A SNV Benign/Likely benign 137084 rs10186730 2:74153990-74153990 2:73926863-73926863 MTC010 Mitochondrial Dna Depletion Syndrome SUCLG1 NM_003849.4(SUCLG1):c.201+9A>G SNV Benign/Likely benign 139368 rs116492610 2:84676764-84676764 2:84449640-84449640 MTC010 Mitochondrial Dna Depletion Syndrome SUCLG1 NM_003849.4(SUCLG1):c.*163T>C SNV Benign 337149 rs2832 2:84650707-84650707 2:84423583-84423583 MTC010 Mitochondrial Dna Depletion Syndrome SUCLG1 NM_003849.4(SUCLG1):c.98-13_98-11del deletion Benign 337162 rs56733272 2:84676887-84676889 2:84449763-84449765 MTC010 Mitochondrial Dna Depletion Syndrome RRM2B NM_001172477.1(RRM2B):c.*1894dup duplication Benign 361154 rs150629554 8:103218466-103218467 8:102206238-102206239 MTC010 Mitochondrial Dna Depletion Syndrome TYMP NM_001257988.1(TYMP):c.763_765del (p.Leu255del) deletion Pathogenic 440503 rs1556488264 22:50965594-50965596 22:50527165-50527167 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.628A>C (p.Ser210Arg) SNV Pathogenic 440502 rs761665644 22:50966035-50966035 22:50527606-50527606 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1048C>T (p.Gln350Ter) SNV Pathogenic 828126 22:50964786-50964786 22:50526357-50526357 MTC061 Mitochondrial Dna Depletion Syndrome 1 TRNK m.8313G>A SNV Pathogenic 9583 rs118192101 MT:8313-8313 MT:8313-8313 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) SNV Pathogenic 13496 rs113994095 15:89870432-89870432 15:89327201-89327201 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.866A>C (p.Glu289Ala) SNV Pathogenic 16653 rs121913036 22:50965067-50965067 22:50526638-50526638 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.516+2T>C SNV Pathogenic 16654 rs797044454 22:50966939-50966939 22:50528510-50528510 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1410dup (p.Ser471fs) duplication Pathogenic 16657 rs786205097 22:50964237-50964238 22:50525808-50525809 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257989.1(TYMP):c.1174G>C (p.Gly392Arg) SNV Pathogenic 16658 rs797044455 22:50964571-50964571 22:50526142-50526142 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1187_1192CGCTGG[1] (p.Ala398_Leu399del) short repeat Pathogenic 16659 rs786205098 22:50964532-50964537 22:50526103-50526108 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_001126131.2(POLG):c.2542G>A (p.Gly848Ser) SNV Pathogenic 13502 rs113994098 15:89865023-89865023 15:89321792-89321792 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.131G>A (p.Arg44Gln) SNV Pathogenic 16661 rs28931613 22:50968008-50968008 22:50529579-50529579 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.215-1G>C SNV Pathogenic 16662 rs767245071 22:50967768-50967768 22:50529339-50529339 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.931G>C (p.Gly311Arg) SNV Pathogenic 16664 rs121913040 22:50964903-50964903 22:50526474-50526474 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.605G>C (p.Arg202Thr) SNV Pathogenic 16665 rs121913041 22:50966058-50966058 22:50527629-50527629 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.854T>C (p.Leu285Pro) SNV Pathogenic 16666 rs121913042 22:50965079-50965079 22:50526650-50526650 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.112G>T (p.Glu38Ter) SNV Pathogenic 223014 rs1054084896 22:50968027-50968027 22:50529598-50529598 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.128A>C (p.Lys43Thr) SNV Pathogenic 223015 rs752137335 22:50968011-50968011 22:50529582-50529582 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.146T>G (p.Leu49Arg) SNV Pathogenic 223017 rs1064792857 22:50967993-50967993 22:50529564-50529564 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.162C>G (p.Ile54Met) SNV Pathogenic 223018 rs1064792858 22:50967977-50967977 22:50529548-50529548 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.228G>A (p.Met76Ile) SNV Pathogenic 223019 rs1064792859 22:50967754-50967754 22:50529325-50529325 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.261G>C (p.Glu87Asp) SNV Pathogenic 223020 rs749827433 22:50967721-50967721 22:50529292-50529292 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.261G>T (p.Glu87Asp) SNV Pathogenic 223021 rs749827433 22:50967721-50967721 22:50529292-50529292 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.275C>A (p.Thr92Asn) SNV Pathogenic 223022 rs891107196 22:50967707-50967707 22:50529278-50529278 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.328C>T (p.Gln110Ter) SNV Pathogenic 223023 rs1064792860 22:50967654-50967654 22:50529225-50529225 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.340G>A (p.Asp114Asn) SNV Pathogenic 223024 rs1064792861 22:50967642-50967642 22:50529213-50529213 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.398T>C (p.Leu133Pro) SNV Pathogenic 223025 rs1064792862 22:50967584-50967584 22:50529155-50529155 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.401C>A (p.Ala134Glu) SNV Pathogenic 223026 rs199901350 22:50967581-50967581 22:50529152-50529152 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.467A>G (p.Asp156Gly) SNV Pathogenic 223029 rs1064792863 22:50966990-50966990 22:50528561-50528561 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.478T>C (p.Ser160Pro) SNV Pathogenic 223030 rs1064792864 22:50966979-50966979 22:50528550-50528550 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.518T>G (p.Met173Arg) SNV Pathogenic 223031 rs1064792865 22:50966145-50966145 22:50527716-50527716 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.530T>C (p.Leu177Pro) SNV Pathogenic 223032 rs1064792866 22:50966133-50966133 22:50527704-50527704 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.605G>A (p.Arg202Lys) SNV Pathogenic 223033 rs121913041 22:50966058-50966058 22:50527629-50527629 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.623T>G (p.Val208Gly) SNV Pathogenic 223036 rs1064792867 22:50966040-50966040 22:50527611-50527611 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.707T>C (p.Phe236Ser) SNV Pathogenic 223038 rs1064792868 22:50965652-50965652 22:50527223-50527223 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.715G>A (p.Ala239Thr) SNV Pathogenic 223039 rs1064792869 22:50965644-50965644 22:50527215-50527215 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.760A>C (p.Thr254Pro) SNV Pathogenic 223040 rs1064792870 22:50965599-50965599 22:50527170-50527170 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.847C>G (p.His283Asp) SNV Pathogenic 223041 rs1064792871 22:50965086-50965086 22:50526657-50526657 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.856G>A (p.Glu286Lys) SNV Pathogenic 223043 rs866001342 22:50965077-50965077 22:50526648-50526648 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.865G>A (p.Glu289Lys) SNV Pathogenic 223044 rs946234163 22:50965068-50965068 22:50526639-50526639 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.893G>A (p.Gly298Asp) SNV Pathogenic 223046 rs1064792872 22:50965040-50965040 22:50526611-50526611 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.931G>A (p.Gly311Ser) SNV Pathogenic 223048 rs121913040 22:50964903-50964903 22:50526474-50526474 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.931G>T (p.Gly311Cys) SNV Pathogenic 223049 rs121913040 22:50964903-50964903 22:50526474-50526474 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.938T>C (p.Leu313Pro) SNV Pathogenic 223050 rs892141220 22:50964896-50964896 22:50526467-50526467 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1067T>C (p.Leu356Pro) SNV Pathogenic 223051 rs1060499532 22:50964767-50964767 22:50526338-50526338 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1112T>C (p.Leu371Pro) SNV Pathogenic 223052 rs1060499533 22:50964722-50964722 22:50526293-50526293 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1159G>A (p.Gly387Ser) SNV Pathogenic 223053 rs1060499534 22:50964675-50964675 22:50526246-50526246 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1160G>A (p.Gly387Asp) SNV Pathogenic 223054 rs1064792873 22:50964570-50964570 22:50526141-50526141 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1282G>A (p.Gly428Ser) SNV Pathogenic 223055 rs1064792874 22:50964448-50964448 22:50526019-50526019 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1311G>A (p.Trp437Ter) SNV Pathogenic 223056 rs1064792875 22:50964337-50964337 22:50525908-50525908 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1360G>C (p.Ala454Pro) SNV Pathogenic 223057 rs764275775 22:50964288-50964288 22:50525859-50525859 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1412C>A (p.Ser471Ter) SNV Pathogenic 223058 rs11479 22:50964236-50964236 22:50525807-50525807 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.928+1G>A SNV Pathogenic 223062 rs1064792876 22:50965004-50965004 22:50526575-50526575 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001953.4(TYMP):c.929-3G>A SNV Pathogenic 223063 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257989.1(TYMP):c.1174G>A (p.Gly392Ser) SNV Pathogenic 223064 rs797044455 22:50964571-50964571 22:50526142-50526142 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1159+2T>A SNV Pathogenic 223065 rs770277446 22:50964673-50964673 22:50526244-50526244 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257989.1(TYMP):c.1173A>C (p.Ala391=) SNV Pathogenic 223067 rs1064792877 22:50964572-50964572 22:50526143-50526143 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257989.1(TYMP):c.1173A>G (p.Ala391=) SNV Pathogenic 223068 rs1064792877 22:50964572-50964572 22:50526143-50526143 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1300+2T>A SNV Pathogenic 223070 rs1064792879 22:50964428-50964428 22:50525999-50525999 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1301-1G>A SNV Pathogenic 223071 rs773785934 22:50964348-50964348 22:50525919-50525919 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.99dup (p.Lys34fs) duplication Pathogenic 223072 rs1064792880 22:50968039-50968040 22:50529610-50529611 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.994_1011dup (p.Ala332_Gly337dup) duplication Pathogenic 223073 rs1064792881 22:50964822-50964823 22:50526393-50526394 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1211dup (p.Gly405fs) duplication Pathogenic 223074 rs1556486467 22:50964518-50964519 22:50526089-50526090 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1320dup (p.His441fs) duplication Pathogenic 223075 rs1556486107 22:50964327-50964328 22:50525898-50525899 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1351dup (p.Gln451fs) duplication Pathogenic 223076 rs1556486029 22:50964296-50964297 22:50525867-50525868 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1431dup (p.Leu478fs) duplication Pathogenic 223077 rs1064792885 22:50964216-50964217 22:50525787-50525788 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP c.52_53delCT undetermined variant Pathogenic 223078 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.263_264del (p.Thr88fs) deletion Pathogenic 223079 rs1064792886 22:50967718-50967719 22:50529289-50529290 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.720del (p.Val241fs) deletion Pathogenic 223080 rs1064792887 22:50965639-50965639 22:50527210-50527210 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.784del (p.Ser261_Leu262insTer) deletion Pathogenic 223081 rs1064792888 22:50965149-50965149 22:50526720-50526720 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1088del (p.Gly363fs) deletion Pathogenic 223083 rs1060499535 22:50964746-50964746 22:50526317-50526317 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1311del (p.Trp437fs) deletion Pathogenic 223085 rs1064792889 22:50964337-50964337 22:50525908-50525908 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1327_1346del (p.Asp443fs) deletion Pathogenic 223086 rs1064792890 22:50964302-50964321 22:50525873-50525892 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1395_1400del (p.Pro466_Phe467del) deletion Pathogenic 223087 rs1064792891 22:50964248-50964253 22:50525819-50525824 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1010_1019delinsAA (p.Gly337fs) indel Pathogenic 223088 rs1064792892 22:50964815-50964824 22:50526386-50526395 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_002693.3(POLG):c.3286C>T SNV Pathogenic/Likely pathogenic 206556 rs201732356 15:89861968-89861968 15:89318737-89318737 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_002693.2(POLG):c.911T>G (p.Leu304Arg) SNV Pathogenic/Likely pathogenic 13497 rs121918044 15:89872286-89872286 15:89329055-89329055 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1308dup (p.Trp437fs) duplication Likely pathogenic 554264 rs1471478620 22:50964339-50964340 22:50525910-50525911 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.433G>A (p.Gly145Arg) SNV Likely pathogenic 16655 rs121913037 22:50967024-50967024 22:50528595-50528595 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.665A>G (p.Lys222Arg) SNV Likely pathogenic 16656 rs149977726 22:50965694-50965694 22:50527265-50527265 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.622G>A (p.Val208Met) SNV Likely pathogenic 16663 rs121913039 22:50966041-50966041 22:50527612-50527612 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.457G>A (p.Gly153Ser) SNV Likely pathogenic 16660 rs121913038 22:50967000-50967000 22:50528571-50528571 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1001T>G (p.Leu334Arg) SNV Likely pathogenic 694442 22:50964833-50964833 22:50526404-50526404 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1300+1G>A SNV Likely pathogenic 223069 rs1064792878 22:50964429-50964429 22:50526000-50526000 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.516+4C>T SNV Conflicting interpretations of pathogenicity 258496 rs369574115 22:50966937-50966937 22:50528508-50528508 MTC061 Mitochondrial Dna Depletion Syndrome 1 SCO2 NM_001257988.1(TYMP):c.1176C>T (p.Val392=) SNV Conflicting interpretations of pathogenicity 342137 rs770533125 22:50964554-50964554 22:50526125-50526125 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1176C>T (p.Val392=) SNV Conflicting interpretations of pathogenicity 342137 rs770533125 22:50964554-50964554 22:50526125-50526125 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.646+8G>A SNV Conflicting interpretations of pathogenicity 215320 rs200818286 22:50966009-50966009 22:50527580-50527580 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.437G>A (p.Arg146His) SNV Conflicting interpretations of pathogenicity 215332 rs188802138 22:50967020-50967020 22:50528591-50528591 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) SNV Conflicting interpretations of pathogenicity 206596 rs145843073 15:89870429-89870429 15:89327198-89327198 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.858G>A (p.Glu286=) SNV Conflicting interpretations of pathogenicity 342145 rs372421189 22:50965075-50965075 22:50526646-50526646 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.242G>A (p.Arg81Gln) SNV Conflicting interpretations of pathogenicity 137872 rs143789597 22:50967740-50967740 22:50529311-50529311 MTC061 Mitochondrial Dna Depletion Syndrome 1 SCO2 NM_001169109.1(SCO2):c.-14+479C>T SNV Conflicting interpretations of pathogenicity 137879 rs372620403 22:50964196-50964196 22:50525767-50525767 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001169109.1(SCO2):c.-14+479C>T SNV Conflicting interpretations of pathogenicity 137879 rs372620403 22:50964196-50964196 22:50525767-50525767 MTC061 Mitochondrial Dna Depletion Syndrome 1 SCO2 NM_001169109.1(SCO2):c.-14+486G>A SNV Conflicting interpretations of pathogenicity 137880 rs369012029 22:50964189-50964189 22:50525760-50525760 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001169109.1(SCO2):c.-14+486G>A SNV Conflicting interpretations of pathogenicity 137880 rs369012029 22:50964189-50964189 22:50525760-50525760 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_002693.2(POLG):c.1174C>G (p.Leu392Val) SNV Conflicting interpretations of pathogenicity 198151 rs145289229 15:89871763-89871763 15:89328532-89328532 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_002693.2(POLG):c.32G>A (p.Gly11Asp) SNV Conflicting interpretations of pathogenicity 195182 rs765472726 15:89876954-89876954 15:89333723-89333723 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_002693.2(POLG):c.2554C>T (p.Arg852Cys) SNV Conflicting interpretations of pathogenicity 206528 rs144500145 15:89865011-89865011 15:89321780-89321780 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_002693.2(POLG):c.2207A>G (p.Asn736Ser) SNV Conflicting interpretations of pathogenicity 206516 rs138457939 15:89866693-89866693 15:89323462-89323462 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1159+5G>A SNV Conflicting interpretations of pathogenicity 215344 rs748559929 22:50964670-50964670 22:50526241-50526241 MTC061 Mitochondrial Dna Depletion Syndrome 1 SCO2 NM_001953.4(TYMP):c.929-6_929-3del short repeat Conflicting interpretations of pathogenicity 215324 rs201685922 22:50964908-50964911 22:50526479-50526482 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001953.4(TYMP):c.929-6_929-3del short repeat Conflicting interpretations of pathogenicity 215324 rs201685922 22:50964908-50964911 22:50526479-50526482 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.735G>A (p.Gln245=) SNV Conflicting interpretations of pathogenicity 215321 rs139223629 22:50965624-50965624 22:50527195-50527195 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) SNV Conflicting interpretations of pathogenicity 13505 rs113994096 15:89868870-89868870 15:89325639-89325639 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) SNV Conflicting interpretations of pathogenicity 13503 rs113994094 15:89873415-89873415 15:89330184-89330184 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_002693.2(POLG):c.2027C>T (p.Ala676Val) SNV Conflicting interpretations of pathogenicity 451086 rs376306906 15:89867381-89867381 15:89324150-89324150 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_002693.2(POLG):c.3667A>G (p.Ile1223Val) SNV Conflicting interpretations of pathogenicity 458718 rs148786642 15:89860035-89860035 15:89316804-89316804 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_002693.2(POLG):c.1276G>A (p.Gly426Ser) SNV Conflicting interpretations of pathogenicity 458687 rs775576189 15:89870555-89870555 15:89327324-89327324 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.517-15G>A SNV Conflicting interpretations of pathogenicity 512317 rs372690172 22:50966161-50966161 22:50527732-50527732 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.647-8C>T SNV Conflicting interpretations of pathogenicity 342148 rs753922795 22:50965720-50965720 22:50527291-50527291 MTC061 Mitochondrial Dna Depletion Syndrome 1 SCO2 NM_001257988.1(TYMP):c.1443G>A (p.Gln481=) SNV Conflicting interpretations of pathogenicity 342136 rs377497287 22:50964205-50964205 22:50525776-50525776 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1443G>A (p.Gln481=) SNV Conflicting interpretations of pathogenicity 342136 rs377497287 22:50964205-50964205 22:50525776-50525776 MTC061 Mitochondrial Dna Depletion Syndrome 1 NCAPH2 NM_152299.4(NCAPH2):c.*800C>T SNV Conflicting interpretations of pathogenicity 342126 rs150485659 22:50962604-50962604 22:50524175-50524175 MTC061 Mitochondrial Dna Depletion Syndrome 1 SCO2 NM_152299.4(NCAPH2):c.*800C>T SNV Conflicting interpretations of pathogenicity 342126 rs150485659 22:50962604-50962604 22:50524175-50524175 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_152299.4(NCAPH2):c.*800C>T SNV Conflicting interpretations of pathogenicity 342126 rs150485659 22:50962604-50962604 22:50524175-50524175 MTC061 Mitochondrial Dna Depletion Syndrome 1 SCO2 NM_001257988.1(TYMP):c.1044G>A (p.Ala348=) SNV Uncertain significance 342140 rs886057633 22:50964790-50964790 22:50526361-50526361 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1044G>A (p.Ala348=) SNV Uncertain significance 342140 rs886057633 22:50964790-50964790 22:50526361-50526361 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.859G>A (p.Val287Met) SNV Uncertain significance 342144 rs781064742 22:50965074-50965074 22:50526645-50526645 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.756A>C (p.Ala252=) SNV Uncertain significance 342147 rs886057635 22:50965603-50965603 22:50527174-50527174 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.516+10G>A SNV Uncertain significance 342152 rs552829713 22:50966931-50966931 22:50528502-50528502 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.-127C>T SNV Uncertain significance 342158 rs886057636 22:50968414-50968414 22:50529985-50529985 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_002693.2(POLG):c.3204C>G (p.Asp1068Glu) SNV Uncertain significance 388649 rs1057523186 15:89862231-89862231 15:89319000-89319000 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.586G>C (p.Gly196Arg) SNV Uncertain significance 342149 rs367723039 22:50966077-50966077 22:50527648-50527648 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.214+6_214+7del deletion Uncertain significance 342154 rs753466981 22:50967918-50967919 22:50529489-50529490 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.-119T>C SNV Uncertain significance 342157 rs560027665 22:50968406-50968406 22:50529977-50529977 MTC061 Mitochondrial Dna Depletion Syndrome 1 SCO2 NM_001257988.1(TYMP):c.1147G>A (p.Ala383Thr) SNV Uncertain significance 342138 rs771700483 22:50964687-50964687 22:50526258-50526258 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1147G>A (p.Ala383Thr) SNV Uncertain significance 342138 rs771700483 22:50964687-50964687 22:50526258-50526258 MTC061 Mitochondrial Dna Depletion Syndrome 1 SCO2 NM_001257988.1(TYMP):c.1137G>A (p.Glu379=) SNV Uncertain significance 342139 rs764142194 22:50964697-50964697 22:50526268-50526268 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1137G>A (p.Glu379=) SNV Uncertain significance 342139 rs764142194 22:50964697-50964697 22:50526268-50526268 MTC061 Mitochondrial Dna Depletion Syndrome 1 SCO2 NM_001257988.1(TYMP):c.1028T>G (p.Phe343Cys) SNV Uncertain significance 342141 rs762630777 22:50964806-50964806 22:50526377-50526377 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1028T>G (p.Phe343Cys) SNV Uncertain significance 342141 rs762630777 22:50964806-50964806 22:50526377-50526377 MTC061 Mitochondrial Dna Depletion Syndrome 1 SCO2 NM_001257988.1(TYMP):c.995C>T (p.Ala332Val) SNV Uncertain significance 342142 rs778306525 22:50964839-50964839 22:50526410-50526410 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.995C>T (p.Ala332Val) SNV Uncertain significance 342142 rs778306525 22:50964839-50964839 22:50526410-50526410 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_002693.2(POLG):c.3317T>C (p.Val1106Ala) SNV Uncertain significance 522129 rs1354582663 15:89861937-89861937 15:89318706-89318706 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1441C>T (p.Gln481Ter) SNV Uncertain significance 553052 rs200735968 22:50964207-50964207 22:50525778-50525778 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_002693.2(POLG):c.1882C>T (p.Arg628Trp) SNV Uncertain significance 458698 rs754245040 15:89868748-89868748 15:89325517-89325517 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_002693.2(POLG):c.729C>A (p.Asp243Glu) SNV Uncertain significance 452496 rs757917194 15:89873438-89873438 15:89330207-89330207 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_002693.2(POLG):c.2468G>A (p.Arg823His) SNV Uncertain significance 448102 rs751172552 15:89865205-89865205 15:89321974-89321974 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1402G>T (p.Ala468Ser) SNV Uncertain significance 900505 22:50964246-50964246 22:50525817-50525817 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1367A>G (p.Gln456Arg) SNV Uncertain significance 900506 22:50964281-50964281 22:50525852-50525852 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.952G>C (p.Gly318Arg) SNV Uncertain significance 903050 22:50964882-50964882 22:50526453-50526453 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.193A>G (p.Ser65Gly) SNV Uncertain significance 902222 22:50967946-50967946 22:50529517-50529517 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.46G>C (p.Gly16Arg) SNV Uncertain significance 902223 22:50968093-50968093 22:50529664-50529664 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.28G>C (p.Gly10Arg) SNV Uncertain significance 902224 22:50968111-50968111 22:50529682-50529682 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.-55C>T SNV Uncertain significance 902225 22:50968342-50968342 22:50529913-50529913 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_002693.2(POLG):c.2069C>T (p.Thr690Met) SNV Uncertain significance 579888 rs201677865 15:89867339-89867339 15:89324108-89324108 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.929-1G>A SNV Uncertain significance 632392 rs1180285291 22:50964906-50964906 22:50526477-50526477 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.647-9C>G SNV Uncertain significance 215331 rs549324764 22:50965721-50965721 22:50527292-50527292 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_002693.2(POLG):c.2085T>G (p.Asp695Glu) SNV Uncertain significance 206509 rs776848222 15:89867118-89867118 15:89323887-89323887 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_002693.2(POLG):c.2059A>G (p.Ile687Val) SNV Uncertain significance 206508 rs796052881 15:89867349-89867349 15:89324118-89324118 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_002693.2(POLG):c.1570C>G (p.Pro524Ala) SNV Uncertain significance 206631 rs577476988 15:89870158-89870158 15:89326927-89326927 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_002693.2(POLG):c.3176A>G (p.Asn1059Ser) SNV Uncertain significance 195487 rs201192905 15:89862259-89862259 15:89319028-89319028 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_002693.2(POLG):c.3425G>A (p.Arg1142Gln) SNV Uncertain significance 195591 rs536732038 15:89861829-89861829 15:89318598-89318598 MTC061 Mitochondrial Dna Depletion Syndrome 1 FANCI NM_002693.2(POLG):c.3650C>T (p.Ala1217Val) SNV Uncertain significance 206575 rs199751339 15:89860052-89860052 15:89316821-89316821 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_002693.2(POLG):c.3650C>T (p.Ala1217Val) SNV Uncertain significance 206575 rs199751339 15:89860052-89860052 15:89316821-89316821 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_002693.2(POLG):c.3505G>A (p.Gly1169Ser) SNV Uncertain significance 206568 rs753864625 15:89860745-89860745 15:89317514-89317514 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_002693.2(POLG):c.3098C>T (p.Ala1033Val) SNV Uncertain significance 206470 rs551708243 15:89862465-89862465 15:89319234-89319234 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_002693.2(POLG):c.3076C>T (p.Arg1026Cys) SNV Uncertain significance 206546 rs760043525 15:89862487-89862487 15:89319256-89319256 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_002693.2(POLG):c.3131T>C (p.Val1044Ala) SNV Uncertain significance 129994 rs150233690 15:89862304-89862304 15:89319073-89319073 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.766-10C>T SNV Uncertain significance 342146 rs886057634 22:50965177-50965177 22:50526748-50526748 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.563G>C (p.Ser188Thr) SNV Uncertain significance 342150 rs145056860 22:50966100-50966100 22:50527671-50527671 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.202G>A (p.Gly68Ser) SNV Uncertain significance 342155 rs760529157 22:50967937-50967937 22:50529508-50529508 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.47G>C (p.Gly16Ala) SNV Uncertain significance 342156 rs781163498 22:50968092-50968092 22:50529663-50529663 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.516+14C>T SNV Uncertain significance 342151 rs780757016 22:50966927-50966927 22:50528498-50528498 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.344A>G (p.Lys115Arg) SNV Uncertain significance 342153 rs775841111 22:50967638-50967638 22:50529209-50529209 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.-185C>G SNV Uncertain significance 342159 rs886057637 22:50968472-50968472 22:50530043-50530043 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_002693.2(POLG):c.1328G>A (p.Arg443His) SNV Uncertain significance 206593 rs796052903 15:89870503-89870503 15:89327272-89327272 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_002693.2(POLG):c.460G>A (p.Ala154Thr) SNV Uncertain significance 206578 rs753858440 15:89876526-89876526 15:89333295-89333295 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.401C>T (p.Ala134Val) SNV Uncertain significance 215330 rs199901350 22:50967581-50967581 22:50529152-50529152 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.930G>A (p.Gly310=) SNV Uncertain significance 342143 rs773100466 22:50964904-50964904 22:50526475-50526475 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1401C>T (p.Phe467=) SNV Likely benign 223011 rs1061205 22:50964247-50964247 22:50525818-50525818 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1432C>T (p.Leu478=) SNV Likely benign 223013 rs3202236 22:50964216-50964216 22:50525787-50525787 MTC061 Mitochondrial Dna Depletion Syndrome 1 SCO2 NM_001169109.1(SCO2):c.-14+653_-14+656dup duplication Likely benign 342133 rs143413019 22:50964018-50964019 22:50525589-50525590 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001169109.1(SCO2):c.-14+653_-14+656dup duplication Likely benign 342133 rs143413019 22:50964018-50964019 22:50525589-50525590 MTC061 Mitochondrial Dna Depletion Syndrome 1 NCAPH2 NM_152299.4(NCAPH2):c.*261G>A SNV Benign/Likely benign 139088 rs8139305 22:50962065-50962065 22:50523636-50523636 MTC061 Mitochondrial Dna Depletion Syndrome 1 SCO2 NM_152299.4(NCAPH2):c.*261G>A SNV Benign/Likely benign 139088 rs8139305 22:50962065-50962065 22:50523636-50523636 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_152299.4(NCAPH2):c.*261G>A SNV Benign/Likely benign 139088 rs8139305 22:50962065-50962065 22:50523636-50523636 MTC061 Mitochondrial Dna Depletion Syndrome 1 FANCI NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) SNV Benign/Likely benign 21312 rs2307441 15:89861826-89861826 15:89318595-89318595 MTC061 Mitochondrial Dna Depletion Syndrome 1 POLG NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) SNV Benign/Likely benign 21312 rs2307441 15:89861826-89861826 15:89318595-89318595 MTC061 Mitochondrial Dna Depletion Syndrome 1 SCO2 NM_001257988.1(TYMP):c.831G>A (p.Leu277=) SNV Benign/Likely benign 137873 rs8141558 22:50965102-50965102 22:50526673-50526673 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.831G>A (p.Leu277=) SNV Benign/Likely benign 137873 rs8141558 22:50965102-50965102 22:50526673-50526673 MTC061 Mitochondrial Dna Depletion Syndrome 1 SCO2 NM_001257988.1(TYMP):c.1393G>A (p.Ala465Thr) SNV Benign/Likely benign 137878 rs112723255 22:50964255-50964255 22:50525826-50525826 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1393G>A (p.Ala465Thr) SNV Benign/Likely benign 137878 rs112723255 22:50964255-50964255 22:50525826-50525826 MTC061 Mitochondrial Dna Depletion Syndrome 1 NCAPH2 NM_152299.4(NCAPH2):c.*710G>A SNV Benign/Likely benign 139084 rs75485962 22:50962514-50962514 22:50524085-50524085 MTC061 Mitochondrial Dna Depletion Syndrome 1 SCO2 NM_152299.4(NCAPH2):c.*710G>A SNV Benign/Likely benign 139084 rs75485962 22:50962514-50962514 22:50524085-50524085 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_152299.4(NCAPH2):c.*710G>A SNV Benign/Likely benign 139084 rs75485962 22:50962514-50962514 22:50524085-50524085 MTC061 Mitochondrial Dna Depletion Syndrome 1 NCAPH2 NM_152299.4(NCAPH2):c.*455G>A SNV Benign/Likely benign 139085 rs131811 22:50962259-50962259 22:50523830-50523830 MTC061 Mitochondrial Dna Depletion Syndrome 1 SCO2 NM_152299.4(NCAPH2):c.*455G>A SNV Benign/Likely benign 139085 rs131811 22:50962259-50962259 22:50523830-50523830 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_152299.4(NCAPH2):c.*455G>A SNV Benign/Likely benign 139085 rs131811 22:50962259-50962259 22:50523830-50523830 MTC061 Mitochondrial Dna Depletion Syndrome 1 NCAPH2 NM_152299.4(NCAPH2):c.*404T>G SNV Benign 139086 rs12148 22:50962208-50962208 22:50523779-50523779 MTC061 Mitochondrial Dna Depletion Syndrome 1 SCO2 NM_152299.4(NCAPH2):c.*404T>G SNV Benign 139086 rs12148 22:50962208-50962208 22:50523779-50523779 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_152299.4(NCAPH2):c.*404T>G SNV Benign 139086 rs12148 22:50962208-50962208 22:50523779-50523779 MTC061 Mitochondrial Dna Depletion Syndrome 1 SCO2 NM_001257988.1(TYMP):c.1284T>A (p.Gly428=) SNV Benign 137876 rs1138404 22:50964446-50964446 22:50526017-50526017 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1284T>A (p.Gly428=) SNV Benign 137876 rs1138404 22:50964446-50964446 22:50526017-50526017 MTC061 Mitochondrial Dna Depletion Syndrome 1 SCO2 NM_001169109.1(SCO2):c.-14+770G>A SNV Benign 139081 rs74479613 22:50963905-50963905 22:50525476-50525476 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001169109.1(SCO2):c.-14+770G>A SNV Benign 139081 rs74479613 22:50963905-50963905 22:50525476-50525476 MTC061 Mitochondrial Dna Depletion Syndrome 1 NCAPH2 NM_152299.4(NCAPH2):c.*978C>G SNV Benign 139082 rs140523 22:50962782-50962782 22:50524353-50524353 MTC061 Mitochondrial Dna Depletion Syndrome 1 SCO2 NM_152299.4(NCAPH2):c.*978C>G SNV Benign 139082 rs140523 22:50962782-50962782 22:50524353-50524353 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_152299.4(NCAPH2):c.*978C>G SNV Benign 139082 rs140523 22:50962782-50962782 22:50524353-50524353 MTC061 Mitochondrial Dna Depletion Syndrome 1 SCO2 NM_001257988.1(TYMP):c.1412C>T (p.Ser471Leu) SNV Benign 130693 rs11479 22:50964236-50964236 22:50525807-50525807 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.1412C>T (p.Ser471Leu) SNV Benign 130693 rs11479 22:50964236-50964236 22:50525807-50525807 MTC061 Mitochondrial Dna Depletion Syndrome 1 SCO2 NM_001257988.1(TYMP):c.972C>T (p.Ala324=) SNV Benign 130694 rs131804 22:50964862-50964862 22:50526433-50526433 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.972C>T (p.Ala324=) SNV Benign 130694 rs131804 22:50964862-50964862 22:50526433-50526433 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.204C>T (p.Gly68=) SNV Benign 137870 rs34375653 22:50967935-50967935 22:50529506-50529506 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.214+13G>A SNV Benign 137871 rs74624637 22:50967912-50967912 22:50529483-50529483 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.647C>T (p.Ala216Val) SNV Benign 223004 rs1064792855 22:50965712-50965712 22:50527283-50527283 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001257988.1(TYMP):c.966T>C (p.Thr322=) SNV Benign 223006 rs1064792856 22:50964868-50964868 22:50526439-50526439 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP c.972T>C undetermined variant Benign 223007 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP c.1069A>G undetermined variant Benign 223008 MTC061 Mitochondrial Dna Depletion Syndrome 1 SCO2 NM_001169109.1(SCO2):c.-14+710G>C SNV Benign 342130 rs131806 22:50963965-50963965 22:50525536-50525536 MTC061 Mitochondrial Dna Depletion Syndrome 1 TYMP NM_001169109.1(SCO2):c.-14+710G>C SNV Benign 342130 rs131806 22:50963965-50963965 22:50525536-50525536 MTC061 Mitochondrial Dna Depletion Syndrome 1 MGME1 NM_052865.4(MGME1):c.359del (p.Pro120fs) deletion Pathogenic 428588 rs1555789140 20:17950860-17950860 20:17970217-17970217 MTC078 Mitochondrial Dna Depletion Syndrome 11 MGME1 NM_052865.4(MGME1):c.456G>A (p.Trp152Ter) SNV Pathogenic 40051 rs587776943 20:17950958-17950958 20:17970315-17970315 MTC078 Mitochondrial Dna Depletion Syndrome 11 MGME1 NM_052865.4(MGME1):c.698A>G (p.Tyr233Cys) SNV Pathogenic 40052 rs587776944 20:17956513-17956513 20:17975870-17975870 MTC078 Mitochondrial Dna Depletion Syndrome 11 MGME1 NM_052865.4(MGME1):c.794C>T (p.Thr265Ile) SNV Conflicting interpretations of pathogenicity 235425 rs76599088 20:17968871-17968871 20:17988228-17988228 MTC078 Mitochondrial Dna Depletion Syndrome 11 MGME1 NM_052865.4(MGME1):c.532C>T (p.Arg178Trp) SNV Conflicting interpretations of pathogenicity 445604 rs143417446 20:17956347-17956347 20:17975704-17975704 MTC078 Mitochondrial Dna Depletion Syndrome 11 SLC25A4 NM_001151.4(SLC25A4):c.239G>A (p.Arg80His) SNV Pathogenic 253037 rs886041081 4:186066045-186066045 4:185144891-185144891 MTC139 Mitochondrial Dna Depletion Syndrome 12a, Autosomal Dominant SLC25A4 NM_001151.4(SLC25A4):c.703C>G (p.Arg235Gly) SNV Pathogenic 253038 rs886041082 4:186067017-186067017 4:185145863-185145863 MTC139 Mitochondrial Dna Depletion Syndrome 12a, Autosomal Dominant SLC25A4 NM_001151.4(SLC25A4):c.238C>G (p.Arg80Gly) SNV Likely pathogenic 635018 rs1560841701 4:186066044-186066044 4:185144890-185144890 MTC139 Mitochondrial Dna Depletion Syndrome 12a, Autosomal Dominant SLC25A4 NM_001151.4(SLC25A4):c.111+1G>A SNV Pathogenic 66011 rs398122942 4:186064638-186064638 4:185143484-185143484 MTC138 Mitochondrial Dna Depletion Syndrome 12b, Autosomal Recessive SLC25A4 NM_001151.4(SLC25A4):c.116_137del (p.Gln39fs) deletion Pathogenic 268149 rs886041080 4:186065922-186065943 4:185144768-185144789 MTC138 Mitochondrial Dna Depletion Syndrome 12b, Autosomal Recessive SLC25A4 NM_001151.4(SLC25A4):c.707G>C (p.Arg236Pro) SNV Pathogenic 268150 rs770816416 4:186067021-186067021 4:185145867-185145867 MTC138 Mitochondrial Dna Depletion Syndrome 12b, Autosomal Recessive SLC25A4 NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) SNV Conflicting interpretations of pathogenicity 18249 rs121912683 4:186066174-186066174 4:185145020-185145020 MTC138 Mitochondrial Dna Depletion Syndrome 12b, Autosomal Recessive SLC25A4 NM_001151.4(SLC25A4):c.515G>T (p.Gly172Val) SNV Uncertain significance 562200 rs1560841935 4:186066321-186066321 4:185145167-185145167 MTC138 Mitochondrial Dna Depletion Syndrome 12b, Autosomal Recessive FBXL4 NM_001278716.2(FBXL4):c.1687C>T (p.Gln563Ter) SNV Pathogenic 437494 rs1554215964 6:99323306-99323306 6:98875430-98875430 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1652T>A (p.Ile551Asn) SNV Pathogenic 437482 rs1554215979 6:99323341-99323341 6:98875465-98875465 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1648_1649del (p.Asp550fs) deletion Pathogenic 437499 rs1554215986 6:99323344-99323345 6:98875468-98875469 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1389+3_1389+6del deletion Pathogenic 437505 rs1554216735 6:99328423-99328426 6:98880547-98880550 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1317G>A (p.Glu439=) SNV Pathogenic 437503 rs1554218789 6:99347144-99347144 6:98899268-98899268 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1210C>T (p.Gln404Ter) SNV Pathogenic 437493 rs1187832552 6:99347251-99347251 6:98899375-98899375 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1067del (p.Gly356fs) deletion Pathogenic 437498 rs1554219474 6:99353338-99353338 6:98905462-98905462 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.858+1G>T SNV Pathogenic 437502 rs1394080480 6:99365249-99365249 6:98917373-98917373 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.616C>T (p.Arg206Ter) SNV Pathogenic 437492 rs964532159 6:99365492-99365492 6:98917616-98917616 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.513-1G>A SNV Pathogenic 437500 rs1554221258 6:99365596-99365596 6:98917720-98917720 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.859-1G>T SNV Pathogenic 437644 rs368965675 6:99353547-99353547 6:98905671-98905671 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.326del (p.Ser109fs) deletion Pathogenic 437496 rs761215749 6:99374539-99374539 6:98926663-98926663 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.316C>T (p.Gln106Ter) SNV Pathogenic 437491 rs1554222122 6:99374549-99374549 6:98926673-98926673 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.292C>T (p.Arg98Ter) SNV Pathogenic 437490 rs1554222130 6:99374573-99374573 6:98926697-98926697 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.273_277del (p.Phe91fs) deletion Pathogenic 437495 rs766892502 6:99374588-99374592 6:98926712-98926716 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.219T>A (p.Tyr73Ter) SNV Pathogenic 437489 rs747536886 6:99374646-99374646 6:98926770-98926770 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.106A>T (p.Arg36Ter) SNV Pathogenic 437488 rs1182326570 6:99374759-99374759 6:98926883-98926883 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.627_633del (p.Asn210fs) deletion Pathogenic 694444 6:99365475-99365481 6:98917599-98917605 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.622G>T (p.Glu208Ter) SNV Pathogenic 802253 6:99365486-99365486 6:98917610-98917610 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1555C>T (p.Gln519Ter) SNV Pathogenic 66090 rs398123059 6:99323438-99323438 6:98875562-98875562 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter) SNV Pathogenic 66091 rs201889294 6:99347158-99347158 6:98899282-98899282 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter) SNV Pathogenic 209153 rs200440128 6:99374801-99374801 6:98926925-98926925 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1635_1636TG[3] (p.Cys547_Asp548delinsTer) short repeat Pathogenic 265143 rs765882664 6:99323351-99323352 6:98875475-98875476 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.618_621dup (p.Glu208fs) duplication Pathogenic 280414 rs886041625 6:99365486-99365487 6:98917610-98917611 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1703G>C (p.Gly568Ala) SNV Pathogenic/Likely pathogenic 66092 rs398123060 6:99322317-99322317 6:98874441-98874441 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) SNV Pathogenic/Likely pathogenic 66093 rs398123061 6:99323549-99323549 6:98875673-98875673 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter) SNV Pathogenic/Likely pathogenic 437724 rs758395213 6:99347173-99347173 6:98899297-98899297 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1304G>A (p.Arg435Gln) SNV Pathogenic/Likely pathogenic 430470 rs754142863 6:99347157-99347157 6:98899281-98899281 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1790A>C (p.Gln597Pro) SNV Pathogenic/Likely pathogenic 437486 rs201989042 6:99322230-99322230 6:98874354-98874354 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1772A>G (p.Asp591Gly) SNV Likely pathogenic 437485 rs747618415 6:99322248-99322248 6:98874372-98874372 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1838T>A (p.Val613Glu) SNV Likely pathogenic 437487 rs1554215766 6:99322182-99322182 6:98874306-98874306 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1836del (p.Val613fs) deletion Likely pathogenic 437821 rs751656896 6:99322184-99322184 6:98874308-98874308 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1750T>C (p.Cys584Arg) SNV Likely pathogenic 437484 rs1554215804 6:99322270-99322270 6:98874394-98874394 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1622C>T (p.Thr541Ile) SNV Likely pathogenic 437481 rs1391578014 6:99323371-99323371 6:98875495-98875495 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1698A>G (p.Ile566Met) SNV Likely pathogenic 437483 rs1554215959 6:99323295-99323295 6:98875419-98875419 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1586C>A (p.Ala529Glu) SNV Likely pathogenic 437480 rs1443104983 6:99323407-99323407 6:98875531-98875531 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1540T>G (p.Trp514Gly) SNV Likely pathogenic 437479 rs1411907961 6:99323453-99323453 6:98875577-98875577 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1304G>T (p.Arg435Leu) SNV Likely pathogenic 437476 rs754142863 6:99347157-99347157 6:98899281-98899281 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1360C>T (p.Gln454Ter) SNV Likely pathogenic 437741 rs750973870 6:99328458-99328458 6:98880582-98880582 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1411G>A (p.Ala471Thr) SNV Likely pathogenic 437478 rs1227524799 6:99323582-99323582 6:98875706-98875706 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr) SNV Likely pathogenic 437475 rs773850151 6:99347229-99347229 6:98899353-98899353 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1229C>T (p.Ser410Phe) SNV Likely pathogenic 437474 rs1554218821 6:99347232-99347232 6:98899356-98899356 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.370C>T (p.Gln124Ter) SNV Likely pathogenic 437565 rs761974928 6:99374495-99374495 6:98926619-98926619 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.417_418insA (p.Val140fs) insertion Likely pathogenic 437575 rs761902417 6:99374447-99374448 6:98926571-98926572 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.445G>A (p.Gly149Arg) SNV Likely pathogenic 437470 rs1345325140 6:99374420-99374420 6:98926544-98926544 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.415_416insTT (p.Ala139fs) insertion Likely pathogenic 437573 rs767543583 6:99374449-99374450 6:98926573-98926574 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.662A>T (p.Asp221Val) SNV Likely pathogenic 437473 rs1554221189 6:99365446-99365446 6:98917570-98917570 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.661G>C (p.Asp221His) SNV Likely pathogenic 437472 rs1554221191 6:99365447-99365447 6:98917571-98917571 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.614T>C (p.Ile205Thr) SNV Likely pathogenic 437471 rs1350566881 6:99365494-99365494 6:98917618-98917618 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.903T>A (p.Cys301Ter) SNV Likely pathogenic 437652 rs775768793 6:99353502-99353502 6:98905626-98905626 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1694A>G (p.Asp565Gly) SNV Likely pathogenic 66094 rs398123062 6:99323299-99323299 6:98875423-98875423 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1442T>C (p.Leu481Pro) SNV Likely pathogenic 224911 rs772037717 6:99323551-99323551 6:98875675-98875675 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1546_1563del (p.Pro516_Ser521del) deletion Likely pathogenic 235778 rs878853112 6:99323430-99323447 6:98875554-98875571 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1323del (p.Ala442fs) deletion Likely pathogenic 804396 6:99328495-99328495 6:98880619-98880619 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1673G>A (p.Cys558Tyr) SNV Likely pathogenic 802252 6:99323320-99323320 6:98875444-98875444 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.419T>C (p.Val140Ala) SNV Likely pathogenic 375387 rs1057519447 6:99374446-99374446 6:98926570-98926570 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.858+5G>C SNV Likely pathogenic 437501 rs1257765682 6:99365245-99365245 6:98917369-98917369 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.351G>A (p.Thr117=) SNV Conflicting interpretations of pathogenicity 389040 rs375173811 6:99374514-99374514 6:98926638-98926638 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1353A>G (p.Ser451=) SNV Conflicting interpretations of pathogenicity 389412 rs141165629 6:99328465-99328465 6:98880589-98880589 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1317+14A>G SNV Conflicting interpretations of pathogenicity 384777 rs182139048 6:99347130-99347130 6:98899254-98899254 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.79A>G (p.Thr27Ala) SNV Conflicting interpretations of pathogenicity 437531 rs142853738 6:99374786-99374786 6:98926910-98926910 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.36C>G (p.Thr12=) SNV Conflicting interpretations of pathogenicity 437518 rs749635212 6:99374829-99374829 6:98926953-98926953 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1104-4G>T SNV Conflicting interpretations of pathogenicity 437694 rs370992555 6:99347361-99347361 6:98899485-98899485 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1083C>T (p.Ile361=) SNV Conflicting interpretations of pathogenicity 437685 rs368029297 6:99353322-99353322 6:98905446-98905446 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.936G>A (p.Gln312=) SNV Conflicting interpretations of pathogenicity 437659 rs142814111 6:99353469-99353469 6:98905593-98905593 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.540T>G (p.Pro180=) SNV Conflicting interpretations of pathogenicity 437593 rs760238524 6:99365568-99365568 6:98917692-98917692 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1251A>G (p.Gln417=) SNV Conflicting interpretations of pathogenicity 437719 rs151258576 6:99347210-99347210 6:98899334-98899334 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1125C>T (p.Ser375=) SNV Conflicting interpretations of pathogenicity 437698 rs377550308 6:99347336-99347336 6:98899460-98899460 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1566C>T (p.Thr522=) SNV Conflicting interpretations of pathogenicity 437772 rs149704398 6:99323427-99323427 6:98875551-98875551 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1772A>C (p.Asp591Ala) SNV Conflicting interpretations of pathogenicity 437812 rs747618415 6:99322248-99322248 6:98874372-98874372 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1764T>G (p.Ser588=) SNV Uncertain significance 437811 rs770326964 6:99322256-99322256 6:98874380-98874380 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1760T>C (p.Leu587Pro) SNV Uncertain significance 437810 rs773572240 6:99322260-99322260 6:98874384-98874384 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1751G>T (p.Cys584Phe) SNV Uncertain significance 437809 rs115816653 6:99322269-99322269 6:98874393-98874393 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1788G>T (p.Ser596=) SNV Uncertain significance 437817 rs745713189 6:99322232-99322232 6:98874356-98874356 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1788G>A (p.Ser596=) SNV Uncertain significance 437818 rs745713189 6:99322232-99322232 6:98874356-98874356 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1787C>T (p.Ser596Leu) SNV Uncertain significance 437816 rs542778224 6:99322233-99322233 6:98874357-98874357 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1779C>T (p.Ser593=) SNV Uncertain significance 437815 rs746650044 6:99322241-99322241 6:98874365-98874365 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1778C>G (p.Ser593Cys) SNV Uncertain significance 437814 rs768243264 6:99322242-99322242 6:98874366-98874366 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1773T>C (p.Asp591=) SNV Uncertain significance 437813 rs776141903 6:99322247-99322247 6:98874371-98874371 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1826G>A (p.Ser609Asn) SNV Uncertain significance 437820 rs371875653 6:99322194-99322194 6:98874318-98874318 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1796A>G (p.Asp599Gly) SNV Uncertain significance 437819 rs757279926 6:99322224-99322224 6:98874348-98874348 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.*18A>G SNV Uncertain significance 437825 rs9388792 6:99322136-99322136 6:98874260-98874260 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.*11G>A SNV Uncertain significance 437824 rs773599829 6:99322143-99322143 6:98874267-98874267 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.*9A>G SNV Uncertain significance 437827 rs185850413 6:99322145-99322145 6:98874269-98874269 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1748C>G (p.Ser583Cys) SNV Uncertain significance 437808 rs766646887 6:99322272-99322272 6:98874396-98874396 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1745A>G (p.Glu582Gly) SNV Uncertain significance 437807 rs774709441 6:99322275-99322275 6:98874399-98874399 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1745A>C (p.Glu582Ala) SNV Uncertain significance 437806 rs774709441 6:99322275-99322275 6:98874399-98874399 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1739T>G (p.Leu580Arg) SNV Uncertain significance 437804 rs757154231 6:99322281-99322281 6:98874405-98874405 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1739T>C (p.Leu580Pro) SNV Uncertain significance 437805 rs757154231 6:99322281-99322281 6:98874405-98874405 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1729T>C (p.Leu577=) SNV Uncertain significance 437803 rs756228059 6:99322291-99322291 6:98874415-98874415 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1723G>T (p.Ala575Ser) SNV Uncertain significance 437802 rs200435702 6:99322297-99322297 6:98874421-98874421 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1723G>A (p.Ala575Thr) SNV Uncertain significance 437801 rs200435702 6:99322297-99322297 6:98874421-98874421 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1722G>A (p.Pro574=) SNV Uncertain significance 437800 rs373647205 6:99322298-99322298 6:98874422-98874422 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1721C>T (p.Pro574Leu) SNV Uncertain significance 437799 rs779731686 6:99322299-99322299 6:98874423-98874423 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1721C>A (p.Pro574Gln) SNV Uncertain significance 437798 rs779731686 6:99322299-99322299 6:98874423-98874423 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1713G>A (p.Met571Ile) SNV Uncertain significance 437797 rs767419935 6:99322307-99322307 6:98874431-98874431 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1703-9C>T SNV Uncertain significance 437796 rs780793598 6:99322326-99322326 6:98874450-98874450 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1703-10C>A SNV Uncertain significance 437795 rs747707911 6:99322327-99322327 6:98874451-98874451 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1703-14T>C SNV Uncertain significance 437794 rs773834428 6:99322331-99322331 6:98874455-98874455 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1702+18A>G SNV Uncertain significance 437793 rs776605924 6:99323273-99323273 6:98875397-98875397 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1702+11A>T SNV Uncertain significance 437792 rs369407577 6:99323280-99323280 6:98875404-98875404 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1702+6G>A SNV Uncertain significance 437791 rs766278048 6:99323285-99323285 6:98875409-98875409 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1700T>C (p.Leu567Ser) SNV Uncertain significance 437790 rs751487933 6:99323293-99323293 6:98875417-98875417 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1699T>C (p.Leu567=) SNV Uncertain significance 437789 rs183776114 6:99323294-99323294 6:98875418-98875418 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1564A>G (p.Thr522Ala) SNV Uncertain significance 437771 rs775291550 6:99323429-99323429 6:98875553-98875553 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1553T>G (p.Leu518Arg) SNV Uncertain significance 437770 rs760486704 6:99323440-99323440 6:98875564-98875564 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1549A>C (p.Thr517Pro) SNV Uncertain significance 437769 rs763702280 6:99323444-99323444 6:98875568-98875568 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1546C>T (p.Pro516Ser) SNV Uncertain significance 437768 rs145806027 6:99323447-99323447 6:98875571-98875571 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1580G>T (p.Arg527Ile) SNV Uncertain significance 437775 rs748236641 6:99323413-99323413 6:98875537-98875537 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1569G>C (p.Gly523=) SNV Uncertain significance 437774 rs11537982 6:99323424-99323424 6:98875548-98875548 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1567G>A (p.Gly523Arg) SNV Uncertain significance 437773 rs759480340 6:99323426-99323426 6:98875550-98875550 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1533C>A (p.Asp511Glu) SNV Uncertain significance 437767 rs764855095 6:99323460-99323460 6:98875584-98875584 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1528C>G (p.Leu510Val) SNV Uncertain significance 437766 rs749904912 6:99323465-99323465 6:98875589-98875589 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1526A>C (p.Glu509Ala) SNV Uncertain significance 437765 rs759005691 6:99323467-99323467 6:98875591-98875591 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1518A>G (p.Leu506=) SNV Uncertain significance 437764 rs556881504 6:99323475-99323475 6:98875599-98875599 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1508G>T (p.Gly503Val) SNV Uncertain significance 437763 rs747431408 6:99323485-99323485 6:98875609-98875609 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1483A>C (p.Asn495His) SNV Uncertain significance 437762 rs568736395 6:99323510-99323510 6:98875634-98875634 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1468A>G (p.Lys490Glu) SNV Uncertain significance 437761 rs781339281 6:99323525-99323525 6:98875649-98875649 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1464A>G (p.Arg488=) SNV Uncertain significance 437760 rs748404878 6:99323529-99323529 6:98875653-98875653 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1449C>G (p.Thr483=) SNV Uncertain significance 437759 rs144468932 6:99323544-99323544 6:98875668-98875668 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1445G>A (p.Arg482Gln) SNV Uncertain significance 437758 rs200372976 6:99323548-99323548 6:98875672-98875672 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1440A>T (p.Lys480Asn) SNV Uncertain significance 437757 rs775383714 6:99323553-99323553 6:98875677-98875677 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1428C>A (p.Ala476=) SNV Uncertain significance 437756 rs763943212 6:99323565-99323565 6:98875689-98875689 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1422A>G (p.Ile474Met) SNV Uncertain significance 437755 rs776233574 6:99323571-99323571 6:98875695-98875695 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1689G>A (p.Gln563=) SNV Uncertain significance 437788 rs767302112 6:99323304-99323304 6:98875428-98875428 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.*3_*5delinsCAG indel Uncertain significance 437828 rs386704156 6:99322149-99322151 6:98874273-98874275 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.*4A>G SNV Uncertain significance 437823 rs751716397 6:99322150-99322150 6:98874274-98874274 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1859C>G (p.Thr620Ser) SNV Uncertain significance 437822 rs767709670 6:99322161-99322161 6:98874285-98874285 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1685A>G (p.Gln562Arg) SNV Uncertain significance 437787 rs752427360 6:99323308-99323308 6:98875432-98875432 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1681T>A (p.Leu561Ile) SNV Uncertain significance 437786 rs143428179 6:99323312-99323312 6:98875436-98875436 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1672T>G (p.Cys558Gly) SNV Uncertain significance 437785 rs777442455 6:99323321-99323321 6:98875445-98875445 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1670A>G (p.Asn557Ser) SNV Uncertain significance 437784 rs753327689 6:99323323-99323323 6:98875447-98875447 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1662G>A (p.Leu554=) SNV Uncertain significance 437783 rs756767279 6:99323331-99323331 6:98875455-98875455 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1656T>C (p.Asp552=) SNV Uncertain significance 437782 rs779344587 6:99323337-99323337 6:98875461-98875461 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1617T>G (p.Phe539Leu) SNV Uncertain significance 437778 rs747337638 6:99323376-99323376 6:98875500-98875500 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1594C>G (p.Leu532Val) SNV Uncertain significance 437777 rs150523994 6:99323399-99323399 6:98875523-98875523 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1592A>G (p.Gln531Arg) SNV Uncertain significance 437776 rs776893791 6:99323401-99323401 6:98875525-98875525 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1631G>A (p.Arg544Lys) SNV Uncertain significance 437781 rs746383238 6:99323362-99323362 6:98875486-98875486 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1628A>C (p.Asn543Thr) SNV Uncertain significance 437780 rs371973036 6:99323365-99323365 6:98875489-98875489 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1626T>G (p.Ala542=) SNV Uncertain significance 437779 rs780589605 6:99323367-99323367 6:98875491-98875491 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1115T>C (p.Val372Ala) SNV Uncertain significance 437697 rs775001296 6:99347346-99347346 6:98899470-98899470 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1113G>C (p.Lys371Asn) SNV Uncertain significance 437696 rs746492456 6:99347348-99347348 6:98899472-98899472 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1247C>T (p.Pro416Leu) SNV Uncertain significance 437718 rs749048612 6:99347214-99347214 6:98899338-98899338 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1244C>T (p.Pro415Leu) SNV Uncertain significance 437717 rs770653005 6:99347217-99347217 6:98899341-98899341 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1226C>A (p.Ser409Tyr) SNV Uncertain significance 437716 rs745441524 6:99347235-99347235 6:98899359-98899359 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1224C>G (p.Leu408=) SNV Uncertain significance 437715 rs771478220 6:99347237-99347237 6:98899361-98899361 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1214C>A (p.Ala405Asp) SNV Uncertain significance 437714 rs140490040 6:99347247-99347247 6:98899371-98899371 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1213G>A (p.Ala405Thr) SNV Uncertain significance 437713 rs761182973 6:99347248-99347248 6:98899372-98899372 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1209A>G (p.Leu403=) SNV Uncertain significance 437712 rs764546116 6:99347252-99347252 6:98899376-98899376 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1195A>T (p.Met399Leu) SNV Uncertain significance 437711 rs777022919 6:99347266-99347266 6:98899390-98899390 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1194G>A (p.Glu398=) SNV Uncertain significance 437710 rs762144154 6:99347267-99347267 6:98899391-98899391 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1190C>A (p.Ser397Tyr) SNV Uncertain significance 437709 rs560726469 6:99347271-99347271 6:98899395-98899395 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1172C>T (p.Thr391Ile) SNV Uncertain significance 437707 rs750610341 6:99347289-99347289 6:98899413-98899413 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1172C>G (p.Thr391Ser) SNV Uncertain significance 437708 rs750610341 6:99347289-99347289 6:98899413-98899413 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1166A>G (p.Asn389Ser) SNV Uncertain significance 437706 rs766384678 6:99347295-99347295 6:98899419-98899419 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1156C>T (p.His386Tyr) SNV Uncertain significance 437705 rs751643380 6:99347305-99347305 6:98899429-98899429 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1153A>G (p.Ser385Gly) SNV Uncertain significance 437704 rs756148359 6:99347308-99347308 6:98899432-98899432 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1149T>C (p.Ser383=) SNV Uncertain significance 437703 rs777819311 6:99347312-99347312 6:98899436-98899436 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1139T>C (p.Leu380Pro) SNV Uncertain significance 437702 rs749139510 6:99347322-99347322 6:98899446-98899446 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1136G>A (p.Arg379His) SNV Uncertain significance 437701 rs756984960 6:99347325-99347325 6:98899449-98899449 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1135C>T (p.Arg379Cys) SNV Uncertain significance 437700 rs778692687 6:99347326-99347326 6:98899450-98899450 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1126G>A (p.Glu376Lys) SNV Uncertain significance 437699 rs745512025 6:99347335-99347335 6:98899459-98899459 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1056A>T (p.Leu352Phe) SNV Uncertain significance 437678 rs779748858 6:99353349-99353349 6:98905473-98905473 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1056A>G (p.Leu352=) SNV Uncertain significance 437679 rs779748858 6:99353349-99353349 6:98905473-98905473 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1027C>T (p.Arg343Cys) SNV Uncertain significance 437677 rs754570800 6:99353378-99353378 6:98905502-98905502 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1020A>G (p.Leu340=) SNV Uncertain significance 437676 rs747657121 6:99353385-99353385 6:98905509-98905509 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1011G>T (p.Leu337=) SNV Uncertain significance 437675 rs770241351 6:99353394-99353394 6:98905518-98905518 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1009C>T (p.Leu337=) SNV Uncertain significance 437674 rs778318524 6:99353396-99353396 6:98905520-98905520 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.991A>G (p.Lys331Glu) SNV Uncertain significance 437673 rs749668327 6:99353414-99353414 6:98905538-98905538 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.989C>T (p.Ala330Val) SNV Uncertain significance 437671 rs368886622 6:99353416-99353416 6:98905540-98905540 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.989C>G (p.Ala330Gly) SNV Uncertain significance 437672 rs368886622 6:99353416-99353416 6:98905540-98905540 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.988G>A (p.Ala330Thr) SNV Uncertain significance 437670 rs759851318 6:99353417-99353417 6:98905541-98905541 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.982T>C (p.Tyr328His) SNV Uncertain significance 437669 rs772370168 6:99353423-99353423 6:98905547-98905547 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.971A>G (p.Asn324Ser) SNV Uncertain significance 437668 rs115763595 6:99353434-99353434 6:98905558-98905558 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.961A>G (p.Ile321Val) SNV Uncertain significance 437667 rs765148228 6:99353444-99353444 6:98905568-98905568 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.961A>C (p.Ile321Leu) SNV Uncertain significance 437666 rs765148228 6:99353444-99353444 6:98905568-98905568 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.954G>A (p.Leu318=) SNV Uncertain significance 437665 rs762811521 6:99353451-99353451 6:98905575-98905575 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.953T>G (p.Leu318Arg) SNV Uncertain significance 437664 rs766177758 6:99353452-99353452 6:98905576-98905576 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.949C>T (p.Pro317Ser) SNV Uncertain significance 437663 rs751310167 6:99353456-99353456 6:98905580-98905580 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.946G>T (p.Asp316Tyr) SNV Uncertain significance 437662 rs754658764 6:99353459-99353459 6:98905583-98905583 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.944G>T (p.Cys315Phe) SNV Uncertain significance 437661 rs534670512 6:99353461-99353461 6:98905585-98905585 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.937C>T (p.His313Tyr) SNV Uncertain significance 437660 rs372150490 6:99353468-99353468 6:98905592-98905592 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1400A>G (p.Tyr467Cys) SNV Uncertain significance 437754 rs761551398 6:99323593-99323593 6:98875717-98875717 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1399T>A (p.Tyr467Asn) SNV Uncertain significance 437753 rs764944877 6:99323594-99323594 6:98875718-98875718 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1396G>C (p.Asp466His) SNV Uncertain significance 437752 rs749992904 6:99323597-99323597 6:98875721-98875721 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1390A>G (p.Ile464Val) SNV Uncertain significance 437751 rs116538686 6:99323603-99323603 6:98875727-98875727 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1390-17A>G SNV Uncertain significance 437750 rs752105736 6:99323620-99323620 6:98875744-98875744 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1389+18C>A SNV Uncertain significance 437749 rs200207652 6:99328411-99328411 6:98880535-98880535 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1389+13G>C SNV Uncertain significance 437748 rs768430744 6:99328416-99328416 6:98880540-98880540 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1389+5G>A SNV Uncertain significance 437747 rs756894323 6:99328424-99328424 6:98880548-98880548 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1389+4A>T SNV Uncertain significance 437746 rs761482653 6:99328425-99328425 6:98880549-98880549 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1389G>C (p.Met463Ile) SNV Uncertain significance 437745 rs769623309 6:99328429-99328429 6:98880553-98880553 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1388T>C (p.Met463Thr) SNV Uncertain significance 437744 rs146638016 6:99328430-99328430 6:98880554-98880554 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1379G>A (p.Ser460Asn) SNV Uncertain significance 437743 rs762621252 6:99328439-99328439 6:98880563-98880563 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1370G>A (p.Ser457Asn) SNV Uncertain significance 437742 rs556983043 6:99328448-99328448 6:98880572-98880572 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1361A>C (p.Gln454Pro) SNV Uncertain significance 437477 rs1358019444 6:99328457-99328457 6:98880581-98880581 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1356G>A (p.Glu452=) SNV Uncertain significance 437740 rs760108335 6:99328462-99328462 6:98880586-98880586 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1349G>A (p.Cys450Tyr) SNV Uncertain significance 437739 rs745312139 6:99328469-99328469 6:98880593-98880593 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1344C>T (p.Asn448=) SNV Uncertain significance 437738 rs756448097 6:99328474-99328474 6:98880598-98880598 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1339T>C (p.Leu447=) SNV Uncertain significance 437737 rs778026970 6:99328479-99328479 6:98880603-98880603 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1336A>G (p.Ile446Val) SNV Uncertain significance 437736 rs754053250 6:99328482-99328482 6:98880606-98880606 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1318C>G (p.Gln440Glu) SNV Uncertain significance 437734 rs757401765 6:99328500-99328500 6:98880624-98880624 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1318-10C>T SNV Uncertain significance 437733 rs779074627 6:99328510-99328510 6:98880634-98880634 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1318-10C>A SNV Uncertain significance 437735 rs779074627 6:99328510-99328510 6:98880634-98880634 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1318-15G>C SNV Uncertain significance 437732 rs373175308 6:99328515-99328515 6:98880639-98880639 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1318-16T>C SNV Uncertain significance 437731 rs768679543 6:99328516-99328516 6:98880640-98880640 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1317+19T>G SNV Uncertain significance 437730 rs201615847 6:99347125-99347125 6:98899249-98899249 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1317+17A>G SNV Uncertain significance 437729 rs768115130 6:99347127-99347127 6:98899251-98899251 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1317+13C>T SNV Uncertain significance 437728 rs761093364 6:99347131-99347131 6:98899255-98899255 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1294G>A (p.Val432Ile) SNV Uncertain significance 437726 rs760332582 6:99347167-99347167 6:98899291-98899291 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1289G>A (p.Arg430Gln) SNV Uncertain significance 437725 rs377537581 6:99347172-99347172 6:98899296-98899296 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1311A>G (p.Lys437=) SNV Uncertain significance 437727 rs764445798 6:99347150-99347150 6:98899274-98899274 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1285A>G (p.Lys429Glu) SNV Uncertain significance 437723 rs1554218803 6:99347176-99347176 6:98899300-98899300 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1260C>T (p.Asn420=) SNV Uncertain significance 437722 rs371347504 6:99347201-99347201 6:98899325-98899325 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1254T>A (p.Ala418=) SNV Uncertain significance 437721 rs374215533 6:99347207-99347207 6:98899331-98899331 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1252G>A (p.Ala418Thr) SNV Uncertain significance 437720 rs542852839 6:99347209-99347209 6:98899333-98899333 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.532G>A (p.Glu178Lys) SNV Uncertain significance 437592 rs199923936 6:99365576-99365576 6:98917700-98917700 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.529T>A (p.Ser177Thr) SNV Uncertain significance 437591 rs753998502 6:99365579-99365579 6:98917703-98917703 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.527G>C (p.Trp176Ser) SNV Uncertain significance 437590 rs201858974 6:99365581-99365581 6:98917705-98917705 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.526T>C (p.Trp176Arg) SNV Uncertain significance 437589 rs201149065 6:99365582-99365582 6:98917706-98917706 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.645A>G (p.Glu215=) SNV Uncertain significance 437610 rs752917494 6:99365463-99365463 6:98917587-98917587 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.645A>C (p.Glu215Asp) SNV Uncertain significance 437609 rs752917494 6:99365463-99365463 6:98917587-98917587 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.643G>C (p.Glu215Gln) SNV Uncertain significance 437608 rs371516190 6:99365465-99365465 6:98917589-98917589 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.637C>T (p.Leu213Phe) SNV Uncertain significance 437607 rs749286898 6:99365471-99365471 6:98917595-98917595 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.634T>G (p.Ser212Ala) SNV Uncertain significance 437606 rs772085661 6:99365474-99365474 6:98917598-98917598 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.513-13C>G SNV Uncertain significance 437588 rs200592647 6:99365608-99365608 6:98917732-98917732 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.513-13C>A SNV Uncertain significance 437587 rs200592647 6:99365608-99365608 6:98917732-98917732 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.513-16T>C SNV Uncertain significance 437586 rs781164933 6:99365611-99365611 6:98917735-98917735 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.506A>C (p.Glu169Ala) SNV Uncertain significance 437585 rs775872113 6:99374359-99374359 6:98926483-98926483 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.493A>C (p.Asn165His) SNV Uncertain significance 437584 rs761003289 6:99374372-99374372 6:98926496-98926496 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.491C>T (p.Pro164Leu) SNV Uncertain significance 437583 rs764357914 6:99374374-99374374 6:98926498-98926498 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.470G>T (p.Cys157Phe) SNV Uncertain significance 437582 rs754001134 6:99374395-99374395 6:98926519-98926519 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.454A>G (p.Ile152Val) SNV Uncertain significance 437581 rs750476761 6:99374411-99374411 6:98926535-98926535 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.405G>C (p.Val135=) SNV Uncertain significance 437572 rs778315780 6:99374460-99374460 6:98926584-98926584 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.402G>T (p.Gln134His) SNV Uncertain significance 437571 rs745348926 6:99374463-99374463 6:98926587-98926587 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.399A>G (p.Gln133=) SNV Uncertain significance 437570 rs772615224 6:99374466-99374466 6:98926590-98926590 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.396A>G (p.Glu132=) SNV Uncertain significance 437569 rs775962308 6:99374469-99374469 6:98926593-98926593 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.394G>A (p.Glu132Lys) SNV Uncertain significance 437568 rs140176220 6:99374471-99374471 6:98926595-98926595 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.381G>A (p.Val127=) SNV Uncertain significance 437567 rs769022403 6:99374484-99374484 6:98926608-98926608 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.371A>G (p.Gln124Arg) SNV Uncertain significance 437566 rs370408625 6:99374494-99374494 6:98926618-98926618 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.443C>T (p.Pro148Leu) SNV Uncertain significance 437580 rs755008031 6:99374422-99374422 6:98926546-98926546 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.442C>T (p.Pro148Ser) SNV Uncertain significance 437579 rs781254899 6:99374423-99374423 6:98926547-98926547 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.440A>G (p.His147Arg) SNV Uncertain significance 437578 rs748016378 6:99374425-99374425 6:98926549-98926549 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.434C>G (p.Thr145Ser) SNV Uncertain significance 437577 rs755971635 6:99374431-99374431 6:98926555-98926555 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.418G>A (p.Val140Ile) SNV Uncertain significance 437576 rs748902586 6:99374447-99374447 6:98926571-98926571 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.416C>G (p.Ala139Gly) SNV Uncertain significance 437574 rs770564931 6:99374449-99374449 6:98926573-98926573 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.859-6A>G SNV Uncertain significance 437643 rs767129948 6:99353552-99353552 6:98905676-98905676 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.353C>T (p.Pro118Leu) SNV Uncertain significance 437564 rs765468582 6:99374512-99374512 6:98926636-98926636 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.350C>T (p.Thr117Met) SNV Uncertain significance 437563 rs763115531 6:99374515-99374515 6:98926639-98926639 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.335T>G (p.Leu112Trp) SNV Uncertain significance 437562 rs189230796 6:99374530-99374530 6:98926654-98926654 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.332C>T (p.Ser111Phe) SNV Uncertain significance 437561 rs368243492 6:99374533-99374533 6:98926657-98926657 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.300T>C (p.Tyr100=) SNV Uncertain significance 437560 rs573472397 6:99374565-99374565 6:98926689-98926689 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.293G>A (p.Arg98Gln) SNV Uncertain significance 437559 rs149860873 6:99374572-99374572 6:98926696-98926696 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.252A>G (p.Val84=) SNV Uncertain significance 437558 rs756896976 6:99374613-99374613 6:98926737-98926737 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.249T>G (p.Asn83Lys) SNV Uncertain significance 437557 rs372346466 6:99374616-99374616 6:98926740-98926740 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.249T>C (p.Asn83=) SNV Uncertain significance 437556 rs372346466 6:99374616-99374616 6:98926740-98926740 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.230A>G (p.Asn77Ser) SNV Uncertain significance 437555 rs771565511 6:99374635-99374635 6:98926759-98926759 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.221C>G (p.Thr74Ser) SNV Uncertain significance 437554 rs779472232 6:99374644-99374644 6:98926768-98926768 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.219T>C (p.Tyr73=) SNV Uncertain significance 437553 rs747536886 6:99374646-99374646 6:98926770-98926770 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.216C>T (p.Ser72=) SNV Uncertain significance 437552 rs769167772 6:99374649-99374649 6:98926773-98926773 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.209G>A (p.Ser70Asn) SNV Uncertain significance 437551 rs776901062 6:99374656-99374656 6:98926780-98926780 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.201T>G (p.Ser67Arg) SNV Uncertain significance 437550 rs762217448 6:99374664-99374664 6:98926788-98926788 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.194A>G (p.Tyr65Cys) SNV Uncertain significance 437549 rs769971096 6:99374671-99374671 6:98926795-98926795 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.176T>G (p.Val59Gly) SNV Uncertain significance 437548 rs559380606 6:99374689-99374689 6:98926813-98926813 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.167A>G (p.Lys56Arg) SNV Uncertain significance 437547 rs763205435 6:99374698-99374698 6:98926822-98926822 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.158A>T (p.Gln53Leu) SNV Uncertain significance 437546 rs766584290 6:99374707-99374707 6:98926831-98926831 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.137C>T (p.Pro46Leu) SNV Uncertain significance 437545 rs371782465 6:99374728-99374728 6:98926852-98926852 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.137C>G (p.Pro46Arg) SNV Uncertain significance 437544 rs371782465 6:99374728-99374728 6:98926852-98926852 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.135C>T (p.Ser45=) SNV Uncertain significance 437543 rs764057679 6:99374730-99374730 6:98926854-98926854 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.131C>A (p.Thr44Asn) SNV Uncertain significance 437542 rs199983343 6:99374734-99374734 6:98926858-98926858 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.130A>T (p.Thr44Ser) SNV Uncertain significance 437541 rs757059942 6:99374735-99374735 6:98926859-98926859 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.129G>C (p.Gln43His) SNV Uncertain significance 437540 rs778495863 6:99374736-99374736 6:98926860-98926860 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.125G>A (p.Ser42Asn) SNV Uncertain significance 437539 rs750080180 6:99374740-99374740 6:98926864-98926864 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.112A>G (p.Ile38Val) SNV Uncertain significance 437538 rs757997109 6:99374753-99374753 6:98926877-98926877 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.109G>A (p.Ala37Thr) SNV Uncertain significance 437537 rs779572354 6:99374756-99374756 6:98926880-98926880 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.933C>G (p.Ser311Arg) SNV Uncertain significance 437658 rs778207313 6:99353472-99353472 6:98905596-98905596 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.923A>G (p.Lys308Arg) SNV Uncertain significance 437657 rs115004708 6:99353482-99353482 6:98905606-98905606 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.919T>C (p.Cys307Arg) SNV Uncertain significance 437656 rs757780723 6:99353486-99353486 6:98905610-98905610 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.913C>G (p.Gln305Glu) SNV Uncertain significance 437655 rs571805954 6:99353492-99353492 6:98905616-98905616 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.906A>G (p.Arg302=) SNV Uncertain significance 437654 rs746193063 6:99353499-99353499 6:98905623-98905623 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.904A>G (p.Arg302Gly) SNV Uncertain significance 437653 rs772461568 6:99353501-99353501 6:98905625-98905625 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1073G>A (p.Arg358Lys) SNV Uncertain significance 437684 rs372544390 6:99353332-99353332 6:98905456-98905456 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1071T>G (p.Asn357Lys) SNV Uncertain significance 437683 rs761676733 6:99353334-99353334 6:98905458-98905458 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1070A>G (p.Asn357Ser) SNV Uncertain significance 437682 rs150436385 6:99353335-99353335 6:98905459-98905459 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1069A>G (p.Asn357Asp) SNV Uncertain significance 437681 rs199540184 6:99353336-99353336 6:98905460-98905460 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1067G>C (p.Gly356Ala) SNV Uncertain significance 437680 rs758201051 6:99353338-99353338 6:98905462-98905462 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1104-4G>A SNV Uncertain significance 437695 rs370992555 6:99347361-99347361 6:98899485-98899485 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1104-13G>T SNV Uncertain significance 437693 rs118092784 6:99347370-99347370 6:98899494-98899494 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1104-19T>C SNV Uncertain significance 437692 rs765527736 6:99347376-99347376 6:98899500-98899500 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1103+13C>T SNV Uncertain significance 437691 rs182076681 6:99353289-99353289 6:98905413-98905413 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1103+13C>G SNV Uncertain significance 437690 rs182076681 6:99353289-99353289 6:98905413-98905413 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1103+12G>A SNV Uncertain significance 437689 rs374114762 6:99353290-99353290 6:98905414-98905414 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1103+7A>G SNV Uncertain significance 437688 rs771325864 6:99353295-99353295 6:98905419-98905419 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1103G>A (p.Arg368Lys) SNV Uncertain significance 437687 rs774697942 6:99353302-99353302 6:98905426-98905426 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1087G>T (p.Val363Phe) SNV Uncertain significance 437686 rs759753713 6:99353318-99353318 6:98905442-98905442 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.901T>C (p.Cys301Arg) SNV Uncertain significance 437651 rs747126681 6:99353504-99353504 6:98905628-98905628 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.893C>T (p.Pro298Leu) SNV Uncertain significance 437650 rs768785974 6:99353512-99353512 6:98905636-98905636 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.891A>G (p.Leu297=) SNV Uncertain significance 437649 rs776516268 6:99353514-99353514 6:98905638-98905638 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.879T>C (p.Asn293=) SNV Uncertain significance 437648 rs762902348 6:99353526-99353526 6:98905650-98905650 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.874C>G (p.Leu292Val) SNV Uncertain significance 437647 rs766267288 6:99353531-99353531 6:98905655-98905655 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.872T>C (p.Ile291Thr) SNV Uncertain significance 437646 rs376597046 6:99353533-99353533 6:98905657-98905657 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.871A>G (p.Ile291Val) SNV Uncertain significance 437645 rs539260316 6:99353534-99353534 6:98905658-98905658 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.607A>G (p.Asn203Asp) SNV Uncertain significance 437605 rs779833991 6:99365501-99365501 6:98917625-98917625 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.601C>T (p.Pro201Ser) SNV Uncertain significance 437604 rs746878388 6:99365507-99365507 6:98917631-98917631 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.590A>C (p.Gln197Pro) SNV Uncertain significance 437603 rs768342478 6:99365518-99365518 6:98917642-98917642 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.570G>C (p.Gln190His) SNV Uncertain significance 437602 rs776510763 6:99365538-99365538 6:98917662-98917662 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.567C>A (p.Arg189=) SNV Uncertain significance 437601 rs761581391 6:99365541-99365541 6:98917665-98917665 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.566G>T (p.Arg189Leu) SNV Uncertain significance 437600 rs769532824 6:99365542-99365542 6:98917666-98917666 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.565C>T (p.Arg189Cys) SNV Uncertain significance 437599 rs373308410 6:99365543-99365543 6:98917667-98917667 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.559C>A (p.Gln187Lys) SNV Uncertain significance 437598 rs762351010 6:99365549-99365549 6:98917673-98917673 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.558C>G (p.Ser186=) SNV Uncertain significance 437597 rs766972168 6:99365550-99365550 6:98917674-98917674 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.547G>C (p.Val183Leu) SNV Uncertain significance 437596 rs774720010 6:99365561-99365561 6:98917685-98917685 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.542C>T (p.Thr181Met) SNV Uncertain significance 437595 rs767879225 6:99365566-99365566 6:98917690-98917690 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.541A>G (p.Thr181Ala) SNV Uncertain significance 437594 rs150748757 6:99365567-99365567 6:98917691-98917691 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.849A>C (p.Leu283=) SNV Uncertain significance 437642 rs748199266 6:99365259-99365259 6:98917383-98917383 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.834G>A (p.Gly278=) SNV Uncertain significance 437641 rs770907606 6:99365274-99365274 6:98917398-98917398 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.822G>T (p.Gly274=) SNV Uncertain significance 437640 rs774255399 6:99365286-99365286 6:98917410-98917410 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.818A>G (p.Glu273Gly) SNV Uncertain significance 437639 rs759388601 6:99365290-99365290 6:98917414-98917414 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.814G>A (p.Gly272Arg) SNV Uncertain significance 437638 rs767346377 6:99365294-99365294 6:98917418-98917418 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.813C>T (p.Leu271=) SNV Uncertain significance 437637 rs146999462 6:99365295-99365295 6:98917419-98917419 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.782G>A (p.Ser261Asn) SNV Uncertain significance 437636 rs763612215 6:99365326-99365326 6:98917450-98917450 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.776T>C (p.Met259Thr) SNV Uncertain significance 437635 rs376909719 6:99365332-99365332 6:98917456-98917456 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.773G>T (p.Gly258Val) SNV Uncertain significance 437634 rs761384727 6:99365335-99365335 6:98917459-98917459 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.766G>A (p.Gly256Ser) SNV Uncertain significance 437633 rs765912815 6:99365342-99365342 6:98917466-98917466 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.755C>T (p.Ala252Val) SNV Uncertain significance 437632 rs750971078 6:99365353-99365353 6:98917477-98917477 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.752A>G (p.Tyr251Cys) SNV Uncertain significance 437631 rs758776562 6:99365356-99365356 6:98917480-98917480 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.749C>T (p.Ala250Val) SNV Uncertain significance 437630 rs557769001 6:99365359-99365359 6:98917483-98917483 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.747T>C (p.Asp249=) SNV Uncertain significance 437629 rs138206466 6:99365361-99365361 6:98917485-98917485 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.747T>A (p.Asp249Glu) SNV Uncertain significance 437628 rs138206466 6:99365361-99365361 6:98917485-98917485 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.744T>C (p.Asp248=) SNV Uncertain significance 437627 rs149549442 6:99365364-99365364 6:98917488-98917488 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.737T>C (p.Ile246Thr) SNV Uncertain significance 437626 rs143154211 6:99365371-99365371 6:98917495-98917495 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.736A>G (p.Ile246Val) SNV Uncertain significance 437625 rs148621221 6:99365372-99365372 6:98917496-98917496 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.735T>C (p.Asp245=) SNV Uncertain significance 437624 rs369242693 6:99365373-99365373 6:98917497-98917497 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.731A>G (p.Asn244Ser) SNV Uncertain significance 437623 rs141193306 6:99365377-99365377 6:98917501-98917501 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.730A>G (p.Asn244Asp) SNV Uncertain significance 437622 rs771854304 6:99365378-99365378 6:98917502-98917502 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.725A>G (p.Asp242Gly) SNV Uncertain significance 437621 rs775384414 6:99365383-99365383 6:98917507-98917507 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.724G>A (p.Asp242Asn) SNV Uncertain significance 437620 rs760356648 6:99365384-99365384 6:98917508-98917508 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.722T>C (p.Ile241Thr) SNV Uncertain significance 437619 rs768403473 6:99365386-99365386 6:98917510-98917510 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.714T>G (p.Thr238=) SNV Uncertain significance 437618 rs776419278 6:99365394-99365394 6:98917518-98917518 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.702T>C (p.Leu234=) SNV Uncertain significance 437617 rs1554221171 6:99365406-99365406 6:98917530-98917530 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.682G>A (p.Val228Met) SNV Uncertain significance 437616 rs202033721 6:99365426-99365426 6:98917550-98917550 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.676C>T (p.His226Tyr) SNV Uncertain significance 437615 rs763549609 6:99365432-99365432 6:98917556-98917556 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.673C>T (p.Leu225=) SNV Uncertain significance 437614 rs766767309 6:99365435-99365435 6:98917559-98917559 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.672G>A (p.Val224=) SNV Uncertain significance 437613 rs545027066 6:99365436-99365436 6:98917560-98917560 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.668T>G (p.Val223Gly) SNV Uncertain significance 437612 rs200734083 6:99365440-99365440 6:98917564-98917564 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.666A>C (p.Ala222=) SNV Uncertain significance 437611 rs781455701 6:99365442-99365442 6:98917566-98917566 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.35C>T (p.Thr12Ile) SNV Uncertain significance 437517 rs771325698 6:99374830-99374830 6:98926954-98926954 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.33G>A (p.Leu11=) SNV Uncertain significance 437516 rs774699896 6:99374832-99374832 6:98926956-98926956 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.23T>C (p.Leu8Ser) SNV Uncertain significance 437515 rs746000252 6:99374842-99374842 6:98926966-98926966 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.20T>C (p.Met7Thr) SNV Uncertain significance 437514 rs772196265 6:99374845-99374845 6:98926969-98926969 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.18C>T (p.Pro6=) SNV Uncertain significance 437513 rs775374425 6:99374847-99374847 6:98926971-98926971 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.16_18del (p.Pro6del) deletion Uncertain significance 437512 rs755307129 6:99374847-99374849 6:98926971-98926973 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.15T>A (p.Phe5Leu) SNV Uncertain significance 437511 rs765129401 6:99374850-99374850 6:98926974-98926974 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.9G>A (p.Pro3=) SNV Uncertain significance 437510 rs773041308 6:99374856-99374856 6:98926980-98926980 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.8C>T (p.Pro3Leu) SNV Uncertain significance 437509 rs561491659 6:99374857-99374857 6:98926981-98926981 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.6A>G (p.Ser2=) SNV Uncertain significance 437508 rs751232704 6:99374859-99374859 6:98926983-98926983 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.3G>A (p.Met1Ile) SNV Uncertain significance 437507 rs754532558 6:99374862-99374862 6:98926986-98926986 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.-15A>G SNV Uncertain significance 437504 rs767080612 6:99374879-99374879 6:98927003-98927003 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.-16C>T SNV Uncertain significance 437506 rs752104950 6:99374880-99374880 6:98927004-98927004 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.78T>C (p.Ala26=) SNV Uncertain significance 437530 rs774610091 6:99374787-99374787 6:98926911-98926911 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.70A>G (p.Arg24Gly) SNV Uncertain significance 437529 rs759636678 6:99374795-99374795 6:98926919-98926919 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.65G>C (p.Arg22Pro) SNV Uncertain significance 437527 rs147696366 6:99374800-99374800 6:98926924-98926924 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.65G>A (p.Arg22Gln) SNV Uncertain significance 437528 rs147696366 6:99374800-99374800 6:98926924-98926924 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.62G>A (p.Arg21His) SNV Uncertain significance 437526 rs765093806 6:99374803-99374803 6:98926927-98926927 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.61C>T (p.Arg21Cys) SNV Uncertain significance 437525 rs369518305 6:99374804-99374804 6:98926928-98926928 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.58C>T (p.Arg20Trp) SNV Uncertain significance 437524 rs758088733 6:99374807-99374807 6:98926931-98926931 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.49A>T (p.Ile17Leu) SNV Uncertain significance 437522 rs754509338 6:99374816-99374816 6:98926940-98926940 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.49A>G (p.Ile17Val) SNV Uncertain significance 437523 rs754509338 6:99374816-99374816 6:98926940-98926940 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.48T>C (p.Tyr16=) SNV Uncertain significance 437521 rs748705687 6:99374817-99374817 6:98926941-98926941 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.46T>C (p.Tyr16His) SNV Uncertain significance 437520 rs756533557 6:99374819-99374819 6:98926943-98926943 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.45T>C (p.Tyr15=) SNV Uncertain significance 437519 rs372735676 6:99374820-99374820 6:98926944-98926944 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.105T>C (p.His35=) SNV Uncertain significance 437536 rs34316889 6:99374760-99374760 6:98926884-98926884 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.104A>G (p.His35Arg) SNV Uncertain significance 437535 rs201901274 6:99374761-99374761 6:98926885-98926885 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.103C>T (p.His35Tyr) SNV Uncertain significance 437534 rs376425290 6:99374762-99374762 6:98926886-98926886 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.91A>G (p.Met31Val) SNV Uncertain significance 437533 rs148934429 6:99374774-99374774 6:98926898-98926898 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.87A>G (p.Gly29=) SNV Uncertain significance 437532 rs749539741 6:99374778-99374778 6:98926902-98926902 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1025C>G (p.Ser342Cys) SNV Uncertain significance 373158 rs780707718 6:99353380-99353380 6:98905504-98905504 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.468T>C (p.Ala156=) SNV Benign/Likely benign 380454 rs114916821 6:99374397-99374397 6:98926521-98926521 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.429A>G (p.Leu143=) SNV Benign/Likely benign 382986 rs17058965 6:99374436-99374436 6:98926560-98926560 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.*3T>C SNV Benign 381422 rs115180578 6:99322151-99322151 6:98874275-98874275 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.978A>G (p.Gln326=) SNV Benign 380510 rs61744041 6:99353427-99353427 6:98905551-98905551 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.1569G>A (p.Gly523=) SNV Benign 260208 rs11537982 6:99323424-99323424 6:98875548-98875548 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.465C>T (p.Leu155=) SNV Benign 260209 rs1011676 6:99374400-99374400 6:98926524-98926524 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.105T>A (p.His35Gln) SNV Benign 260207 rs34316889 6:99374760-99374760 6:98926884-98926884 MTC088 Mitochondrial Dna Depletion Syndrome 13 FBXL4 NM_001278716.2(FBXL4):c.*5A>G SNV Benign 437826 rs142988015 6:99322149-99322149 6:98874273-98874273 MTC088 Mitochondrial Dna Depletion Syndrome 13 OPA1 NM_015560.2(OPA1):c.1601T>G (p.Leu534Arg) SNV Pathogenic 225124 rs869312995 3:193364865-193364865 3:193647076-193647076 MTC126 Mitochondrial Dna Depletion Syndrome 14 OPA1 NM_015560.2(OPA1):c.599C>T (p.Ser200Phe) SNV Conflicting interpretations of pathogenicity 344482 rs200243596 3:193336700-193336700 3:193618911-193618911 MTC126 Mitochondrial Dna Depletion Syndrome 14 TFAM NM_003201.3(TFAM):c.533C>T (p.Pro178Leu) SNV Likely pathogenic 221285 rs757075712 10:60150616-60150616 10:58390856-58390856 MTC129 Mitochondrial Dna Depletion Syndrome 15 POLG2 NM_007215.4(POLG2):c.544C>T (p.Arg182Trp) SNV Likely pathogenic 252958 rs886037843 17:62492543-62492543 17:64496425-64496425 MTC182 Mitochondrial Dna Depletion Syndrome 16 MRM2 NM_013393.3(MRM2):c.565G>A SNV Pathogenic 689394 7:2274933-2274933 7:2235298-2235298 MTC200 Mitochondrial Dna Depletion Syndrome 17 SLC25A21 NM_030631.4(SLC25A21):c.695A>G (p.Lys232Arg) SNV Pathogenic 827876 14:37154039-37154039 14:36684834-36684834 MTC204 Mitochondrial Dna Depletion Syndrome 18 TK2 NM_004614.5(TK2):c.361C>A (p.His121Asn) SNV Pathogenic 12708 rs137854429 16:66565297-66565297 16:66531394-66531394 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.635T>A (p.Ile212Asn) SNV Pathogenic 12709 rs137854430 16:66547698-66547698 16:66513795-66513795 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.323C>T (p.Thr108Met) SNV Pathogenic 12710 rs137854431 16:66565335-66565335 16:66531432-66531432 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.159C>G (p.Ile53Met) SNV Pathogenic 12711 rs137854432 16:66575854-66575854 16:66541951-66541951 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.4:c.-270+2561delins;7287-7335inv insertion Pathogenic 38971 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_001040138.2(CKLF):c.-7863_-2035delinsoAC010542.7:g.65062_65110 indel Pathogenic 38972 16:66578756-66584584 16:66544853-66550681 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.129_132del (p.Lys43fs) deletion Pathogenic 38973 rs281865500 16:66582905-66582908 16:66549002-66549005 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.133C>T (p.Gln45Ter) SNV Pathogenic 38974 rs281865486 16:66582904-66582904 16:66549001-66549001 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.142dup (p.Glu48fs) duplication Pathogenic 38975 rs281865503 16:66582894-66582895 16:66548991-66548992 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.150dup (p.Ser51fs) duplication Pathogenic 38976 rs281865504 16:66582886-66582887 16:66548983-66548984 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.156+2T>C SNV Pathogenic 38977 rs281865499 16:66582879-66582879 16:66548976-66548976 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.278A>G (p.Asn93Ser) SNV Pathogenic 38983 rs142291440 16:66570874-66570874 16:66536971-66536971 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.334T>A (p.Tyr112Asn) SNV Pathogenic 38984 rs281865490 16:66565324-66565324 16:66531421-66531421 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.335_336dup (p.Val113fs) duplication Pathogenic 38985 rs281865506 16:66565321-66565322 16:66531418-66531419 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.360_361delinsAA (p.His121Asn) indel Pathogenic 38986 rs281865507 16:66565297-66565298 16:66531394-66531395 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.373C>T (p.Gln125Ter) SNV Pathogenic 38987 rs281865491 16:66565285-66565285 16:66531382-66531382 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.388C>T (p.Arg130Trp) SNV Pathogenic 38988 rs281865493 16:66562958-66562958 16:66529055-66529055 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.389G>A (p.Arg130Gln) SNV Pathogenic 38989 rs281865492 16:66562957-66562957 16:66529054-66529054 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.547C>T (p.Arg183Trp) SNV Pathogenic 38992 rs137886900 16:66551110-66551110 16:66517207-66517207 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.562A>G (p.Thr188Ala) SNV Pathogenic 38993 rs281865495 16:66551095-66551095 16:66517192-66517192 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.575G>A (p.Arg192Lys) SNV Pathogenic 38994 rs281865496 16:66551082-66551082 16:66517179-66517179 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.604_606del (p.Lys202del) deletion Pathogenic 38995 rs281865501 16:66551051-66551053 16:66517148-66517150 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.644T>C (p.Leu215Pro) SNV Pathogenic 38996 rs281865497 16:66547689-66547689 16:66513786-66513786 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.8dup (p.Trp4fs) duplication Pathogenic 38998 rs281865502 16:66583956-66583957 16:66550053-66550054 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 TK2, 8-BP DUP duplication Pathogenic 39416 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.198C>G (p.Cys66Trp) SNV Pathogenic 38980 rs281865488 16:66575815-66575815 16:66541912-66541912 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.216_217CG[3] (p.Thr74fs) short repeat Pathogenic 38981 rs281865505 16:66575793-66575794 16:66541890-66541891 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.372_373delinsCT (p.Gln125Ter) indel Pathogenic 265614 rs886039669 16:66565285-66565286 16:66531382-66531383 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.416C>T (p.Ala139Val) SNV Pathogenic/Likely pathogenic 38990 rs281865494 16:66562930-66562930 16:66529027-66529027 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.173A>G (p.Asn58Ser) SNV Pathogenic/Likely pathogenic 38978 rs138439950 16:66575840-66575840 16:66541937-66541937 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.655T>C (p.Trp219Arg) SNV Likely pathogenic 694441 16:66547678-66547678 16:66513775-66513775 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.338T>A (p.Val113Glu) SNV Likely pathogenic 694440 16:66565320-66565320 16:66531417-66531417 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.310C>T (p.Arg104Cys) SNV Likely pathogenic 694439 16:66565348-66565348 16:66531445-66531445 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.169G>A (p.Gly57Ser) SNV Likely pathogenic 694443 16:66575844-66575844 16:66541941-66541941 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.268C>T (p.Arg90Cys) SNV Likely pathogenic 38982 rs281865489 16:66570884-66570884 16:66536981-66536981 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.122C>A (p.Pro41His) SNV Conflicting interpretations of pathogenicity 215262 rs201904720 16:66583843-66583843 16:66549940-66549940 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.680C>T (p.Pro227Leu) SNV Uncertain significance 215268 rs754140768 16:66547653-66547653 16:66513750-66513750 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.547C>G (p.Arg183Gly) SNV Uncertain significance 38991 rs137886900 16:66551110-66551110 16:66517207-66517207 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.760C>T (p.Arg254Ter) SNV Uncertain significance 38997 rs281865498 16:66545909-66545909 16:66512006-66512006 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*2433A>G SNV Uncertain significance 884396 16:66543438-66543438 16:66509535-66509535 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*2375G>A SNV Uncertain significance 884397 16:66543496-66543496 16:66509593-66509593 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*2146G>A SNV Uncertain significance 884398 16:66543725-66543725 16:66509822-66509822 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*2121C>T SNV Uncertain significance 884399 16:66543750-66543750 16:66509847-66509847 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*1986G>C SNV Uncertain significance 884400 16:66543885-66543885 16:66509982-66509982 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*3368G>T SNV Uncertain significance 887357 16:66542503-66542503 16:66508600-66508600 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*3331C>T SNV Uncertain significance 887358 16:66542540-66542540 16:66508637-66508637 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*3285G>A SNV Uncertain significance 887359 16:66542586-66542586 16:66508683-66508683 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*3255A>G SNV Uncertain significance 887360 16:66542616-66542616 16:66508713-66508713 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*3218A>C SNV Uncertain significance 887361 16:66542653-66542653 16:66508750-66508750 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*2985G>A SNV Uncertain significance 887545 16:66542886-66542886 16:66508983-66508983 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*2944G>T SNV Uncertain significance 887546 16:66542927-66542927 16:66509024-66509024 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*2637G>A SNV Uncertain significance 887547 16:66543234-66543234 16:66509331-66509331 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*1671G>C SNV Uncertain significance 886421 16:66544200-66544200 16:66510297-66510297 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*1597G>A SNV Uncertain significance 886422 16:66544274-66544274 16:66510371-66510371 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*1463T>G SNV Uncertain significance 887429 16:66544408-66544408 16:66510505-66510505 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*1292G>A SNV Uncertain significance 887430 16:66544579-66544579 16:66510676-66510676 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*1212C>T SNV Uncertain significance 887431 16:66544659-66544659 16:66510756-66510756 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*1029T>A SNV Uncertain significance 887612 16:66544842-66544842 16:66510939-66510939 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*773C>T SNV Uncertain significance 887613 16:66545098-66545098 16:66511195-66511195 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.191C>T (p.Thr64Met) SNV Uncertain significance 38979 rs281865487 16:66575822-66575822 16:66541919-66541919 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*729A>G SNV Uncertain significance 884463 16:66545142-66545142 16:66511239-66511239 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*327G>A SNV Uncertain significance 885395 16:66545544-66545544 16:66511641-66511641 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*223G>A SNV Uncertain significance 885396 16:66545648-66545648 16:66511745-66511745 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*200G>T SNV Uncertain significance 885397 16:66545671-66545671 16:66511768-66511768 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*15A>G SNV Uncertain significance 885398 16:66545856-66545856 16:66511953-66511953 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.763A>G (p.Ile255Val) SNV Uncertain significance 885399 16:66545906-66545906 16:66512003-66512003 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.620A>T (p.Glu207Val) SNV Uncertain significance 887483 16:66547713-66547713 16:66513810-66513810 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.519C>T (p.Asp173=) SNV Uncertain significance 887485 16:66551711-66551711 16:66517808-66517808 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.414C>T (p.Ser138=) SNV Uncertain significance 887486 16:66562932-66562932 16:66529029-66529029 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.300C>T (p.His100=) SNV Uncertain significance 887487 16:66565358-66565358 16:66531455-66531455 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.125A>C (p.Asp42Ala) SNV Uncertain significance 887674 16:66582912-66582912 16:66549009-66549009 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.-43G>C SNV Uncertain significance 884524 16:66584007-66584007 16:66550104-66550104 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_001172643.1(TK2):c.31+122T>A SNV Uncertain significance 884525 16:66584034-66584034 16:66550131-66550131 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.699+13C>T SNV Uncertain significance 885400 16:66547621-66547621 16:66513718-66513718 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.125-13C>T SNV Uncertain significance 887675 16:66582925-66582925 16:66549022-66549022 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*1455C>G SNV Uncertain significance 320141 rs886052203 16:66544416-66544416 16:66510513-66510513 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*1403A>G SNV Uncertain significance 320143 rs886052204 16:66544468-66544468 16:66510565-66510565 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*1333G>T SNV Uncertain significance 320144 rs187682220 16:66544538-66544538 16:66510635-66510635 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*833T>G SNV Uncertain significance 320147 rs373278953 16:66545038-66545038 16:66511135-66511135 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*595G>A SNV Uncertain significance 320152 rs886052209 16:66545276-66545276 16:66511373-66511373 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.-48G>A SNV Uncertain significance 320160 rs781512555 16:66584012-66584012 16:66550109-66550109 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*3193G>A SNV Uncertain significance 320120 rs768065808 16:66542678-66542678 16:66508775-66508775 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*1044C>A SNV Uncertain significance 320145 rs879622108 16:66544827-66544827 16:66510924-66510924 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*809C>T SNV Uncertain significance 320148 rs886052206 16:66545062-66545062 16:66511159-66511159 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*615A>C SNV Uncertain significance 320151 rs886052208 16:66545256-66545256 16:66511353-66511353 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*485C>G SNV Uncertain significance 320153 rs183596247 16:66545386-66545386 16:66511483-66511483 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*451G>A SNV Uncertain significance 320154 rs369868888 16:66545420-66545420 16:66511517-66511517 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*3438G>A SNV Uncertain significance 320119 rs745480813 16:66542433-66542433 16:66508530-66508530 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*2902C>T SNV Uncertain significance 320122 rs532588163 16:66542969-66542969 16:66509066-66509066 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*2773C>G SNV Uncertain significance 320123 rs886052194 16:66543098-66543098 16:66509195-66509195 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.699+6_699+9del short repeat Uncertain significance 225491 rs529176585 16:66547625-66547628 16:66513722-66513725 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*1682T>G SNV Uncertain significance 320136 rs886052199 16:66544189-66544189 16:66510286-66510286 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*1472A>T SNV Uncertain significance 320140 rs886052202 16:66544399-66544399 16:66510496-66510496 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*921G>A SNV Uncertain significance 320146 rs886052205 16:66544950-66544950 16:66511047-66511047 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*688C>T SNV Uncertain significance 320150 rs886052207 16:66545183-66545183 16:66511280-66511280 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*444G>T SNV Uncertain significance 320155 rs775590447 16:66545427-66545427 16:66511524-66511524 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.450-13A>G SNV Uncertain significance 320157 rs886052210 16:66551793-66551793 16:66517890-66517890 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.124+6G>C SNV Uncertain significance 320159 rs772063515 16:66583835-66583835 16:66549932-66549932 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*1738C>T SNV Uncertain significance 320135 rs886052198 16:66544133-66544133 16:66510230-66510230 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*1681A>G SNV Uncertain significance 320137 rs538743722 16:66544190-66544190 16:66510287-66510287 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*1618C>A SNV Uncertain significance 320138 rs886052200 16:66544253-66544253 16:66510350-66510350 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*1443C>A SNV Uncertain significance 320142 rs577231164 16:66544428-66544428 16:66510525-66510525 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*342C>A SNV Uncertain significance 320156 rs544189950 16:66545529-66545529 16:66511626-66511626 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.288C>T (p.Gly96=) SNV Uncertain significance 320158 rs886052211 16:66565370-66565370 16:66531467-66531467 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*3763G>T SNV Uncertain significance 320118 rs549738791 16:66542108-66542108 16:66508205-66508205 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_001172645.1(TK2):c.-216G>A SNV Likely benign 320161 rs190131543 16:66584180-66584180 16:66550277-66550277 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*2298C>T SNV Likely benign 320126 rs139593959 16:66543573-66543573 16:66509670-66509670 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*1740T>C SNV Likely benign 320134 rs548520268 16:66544131-66544131 16:66510228-66510228 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*760T>G SNV Likely benign 887614 16:66545111-66545111 16:66511208-66511208 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*2540G>T SNV Likely benign 887548 16:66543331-66543331 16:66509428-66509428 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.231+10C>T SNV Benign/Likely benign 137668 rs187517309 16:66575772-66575772 16:66541869-66541869 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.94C>T (p.Arg32Trp) SNV Benign/Likely benign 215261 rs200121712 16:66583871-66583871 16:66549968-66549968 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*3786C>T SNV Benign 320117 rs74451221 16:66542085-66542085 16:66508182-66508182 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.156+15T>C SNV Benign 137660 rs80083556 16:66582866-66582866 16:66548963-66548963 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.449+14A>C SNV Benign 137661 rs144627957 16:66562883-66562883 16:66528980-66528980 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.576G>A (p.Arg192=) SNV Benign 137663 rs146963943 16:66551081-66551081 16:66517178-66517178 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.700-13G>A SNV Benign 137664 rs16956600 16:66545982-66545982 16:66512079-66512079 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.-38A>G SNV Benign 137665 rs3743716 16:66584002-66584002 16:66550099-66550099 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.-30C>G SNV Benign 137666 rs3743715 16:66583994-66583994 16:66550091-66550091 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.157-12G>A SNV Benign 137667 rs117229729 16:66575868-66575868 16:66541965-66541965 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*1959G>A SNV Benign 886420 16:66543912-66543912 16:66510009-66510009 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*2419C>T SNV Benign 320125 rs74372298 16:66543452-66543452 16:66509549-66509549 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*2221T>C SNV Benign 320127 rs3743712 16:66543650-66543650 16:66509747-66509747 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*765T>C SNV Benign 320149 rs880530 16:66545106-66545106 16:66511203-66511203 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*2914C>T SNV Benign 320121 rs3743711 16:66542957-66542957 16:66509054-66509054 MTC062 Mitochondrial Dna Depletion Syndrome 2 TK2 NM_004614.5(TK2):c.*2450A>G SNV Benign 320124 rs35138698 16:66543421-66543421 16:66509518-66509518 MTC062 Mitochondrial Dna Depletion Syndrome 2 TWNK NM_021830.5(TWNK):c.1370C>T (p.Thr457Ile) SNV Pathogenic 4626 rs80356544 10:102749527-102749527 10:100989770-100989770 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.255del (p.Ala86fs) deletion Pathogenic 8153 rs886037613 2:74166145-74166145 2:73939018-73939018 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.313C>T (p.Arg105Ter) SNV Pathogenic 8154 rs104893630 2:74173903-74173903 2:73946776-73946776 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.763_766dup (p.Phe256Ter) duplication Pathogenic 8155 rs763706988 2:74185326-74185327 2:73958199-73958200 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.609_610del (p.Tyr204fs) deletion Pathogenic 8156 rs886037615 2:74184268-74184269 2:73957141-73957142 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.425G>A (p.Arg142Lys) SNV Pathogenic 8157 rs104893631 2:74174015-74174015 2:73946888-73946888 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.679G>A (p.Glu227Lys) SNV Pathogenic 8158 rs104893632 2:74184339-74184339 2:73957212-73957212 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.763G>T (p.Asp255Tyr) SNV Pathogenic 8159 rs104893633 2:74185328-74185328 2:73958201-73958201 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.749T>C (p.Leu250Ser) SNV Pathogenic 488491 rs749464475 2:74185314-74185314 2:73958187-73958187 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.797T>G (p.Leu266Arg) SNV Pathogenic 253063 rs886037846 2:74185362-74185362 2:73958235-73958235 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.591G>A (p.Gln197=) SNV Pathogenic 214286 rs748597500 2:74177859-74177859 2:73950732-73950732 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.603_604GA[1] (p.Arg202fs) short repeat Pathogenic 214288 rs863223949 2:74184262-74184263 2:73957135-73957136 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.137A>G (p.Asn46Ser) SNV Pathogenic/Likely pathogenic 253062 rs763615602 2:74154174-74154174 2:73927047-73927047 MTC063 Mitochondrial Dna Depletion Syndrome 3 TFAM NM_003201.3(TFAM):c.533C>T (p.Pro178Leu) SNV Likely pathogenic 221285 rs757075712 10:60150616-60150616 10:58390856-58390856 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.707+2T>G SNV Likely pathogenic 801725 2:74184369-74184369 2:73957242-73957242 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.287T>C (p.Leu96Pro) SNV Likely pathogenic 135652 rs587780587 2:74173877-74173877 2:73946750-73946750 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.155C>T (p.Ser52Phe) SNV Conflicting interpretations of pathogenicity 488490 rs1204316787 2:74166049-74166049 2:73938922-73938922 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.708-3T>C SNV Conflicting interpretations of pathogenicity 214279 rs370071744 2:74185270-74185270 2:73958143-73958143 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser) SNV Conflicting interpretations of pathogenicity 193482 rs147551003 2:74154041-74154041 2:73926914-73926914 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.630G>A (p.Glu210=) SNV Conflicting interpretations of pathogenicity 197867 rs115206553 2:74184290-74184290 2:73957163-73957163 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.705G>A (p.Thr235=) SNV Conflicting interpretations of pathogenicity 337050 rs866403196 2:74184365-74184365 2:73957238-73957238 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.664C>T (p.Leu222=) SNV Conflicting interpretations of pathogenicity 337049 rs375686551 2:74184324-74184324 2:73957197-73957197 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.*120G>A SNV Uncertain significance 337052 rs886056323 2:74185983-74185983 2:73958856-73958856 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala) SNV Uncertain significance 208752 rs184770596 2:74166105-74166105 2:73938978-73938978 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.9G>T (p.Ala3=) SNV Uncertain significance 895310 2:74154046-74154046 2:73926919-73926919 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.265G>A (p.Ala89Thr) SNV Uncertain significance 895311 2:74173855-74173855 2:73946728-73946728 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.655C>T (p.Leu219=) SNV Uncertain significance 896732 2:74184315-74184315 2:73957188-73957188 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.684C>G (p.Ala228=) SNV Uncertain significance 897203 2:74184344-74184344 2:73957217-73957217 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.*7C>T SNV Uncertain significance 897204 2:74185870-74185870 2:73958743-73958743 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.492C>T (p.Ile164=) SNV Uncertain significance 559368 rs148915942 2:74177760-74177760 2:73950633-73950633 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.337T>C (p.Phe113Leu) SNV Uncertain significance 289872 rs141810774 2:74173927-74173927 2:73946800-73946800 MTC063 Mitochondrial Dna Depletion Syndrome 3 MPV17 NM_002437.5(MPV17):c.*130G>T SNV Uncertain significance 335523 rs886055896 2:27532650-27532650 2:27309782-27309782 MTC063 Mitochondrial Dna Depletion Syndrome 3 MPV17 NM_002437.5(MPV17):c.373C>T (p.Arg125Trp) SNV Uncertain significance 335526 rs112170670 2:27535363-27535363 2:27312496-27312496 MTC063 Mitochondrial Dna Depletion Syndrome 3 MPV17 NM_002437.5(MPV17):c.*360G>C SNV Uncertain significance 335520 rs866206271 2:27532420-27532420 2:27309552-27309552 MTC063 Mitochondrial Dna Depletion Syndrome 3 MPV17 NM_002437.5(MPV17):c.*347C>T SNV Uncertain significance 335521 rs144697795 2:27532433-27532433 2:27309565-27309565 MTC063 Mitochondrial Dna Depletion Syndrome 3 MPV17 NM_002437.5(MPV17):c.-11G>C SNV Uncertain significance 335529 rs886055898 2:27545924-27545924 2:27323057-27323057 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.-8T>C SNV Uncertain significance 337043 rs369681767 2:74154030-74154030 2:73926903-73926903 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.-1G>A SNV Uncertain significance 337044 rs754623273 2:74154037-74154037 2:73926910-73926910 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.366G>C (p.Gln122His) SNV Uncertain significance 337046 rs199645258 2:74173956-74173956 2:73946829-73946829 MTC063 Mitochondrial Dna Depletion Syndrome 3 MPV17 NM_002437.5(MPV17):c.*413A>C SNV Uncertain significance 335519 rs575276701 2:27532367-27532367 2:27309499-27309499 MTC063 Mitochondrial Dna Depletion Syndrome 3 MPV17 NM_002437.5(MPV17):c.*34G>A SNV Uncertain significance 335525 rs147885371 2:27532746-27532746 2:27309878-27309878 MTC063 Mitochondrial Dna Depletion Syndrome 3 MPV17 NM_002437.5(MPV17):c.-6+8G>A SNV Uncertain significance 335528 rs886055897 2:27545911-27545911 2:27323044-27323044 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.-21G>T SNV Uncertain significance 337042 rs200333852 2:74154017-74154017 2:73926890-73926890 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.142+1G>T SNV Uncertain significance 337045 rs886056321 2:74154180-74154180 2:73927053-73927053 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.568A>T (p.Ile190Phe) SNV Uncertain significance 337047 rs757043357 2:74177836-74177836 2:73950709-73950709 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.423G>A (p.Glu141=) SNV Benign/Likely benign 137081 rs1804599 2:74174013-74174013 2:73946886-73946886 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) SNV Benign/Likely benign 137082 rs74874677 2:74177777-74177777 2:73950650-73950650 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.123C>G (p.Leu41=) SNV Benign/Likely benign 214283 rs145252858 2:74154160-74154160 2:73927033-73927033 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.*13A>T SNV Benign 137083 rs4777 2:74185876-74185876 2:73958749-73958749 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.*119C>T SNV Benign 897205 2:74185982-74185982 2:73958855-73958855 MTC063 Mitochondrial Dna Depletion Syndrome 3 DGUOK NM_080916.3(DGUOK):c.159G>A (p.Thr53=) SNV Benign 137080 rs62641680 2:74166053-74166053 2:73938926-73938926 MTC063 Mitochondrial Dna Depletion Syndrome 3 POLG NM_002693.2(POLG):c.3550G>A (p.Asp1184Asn) SNV Pathogenic 426100 rs1131691575 15:89860700-89860700 15:89317469-89317469 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3155dup (p.Thr1053fs) duplication Pathogenic 458711 rs1447799185 15:89862279-89862280 15:89319048-89319049 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_001126131.2(POLG):c.3087_3088GA[2] (p.Glu1031fs) short repeat Pathogenic 458710 rs1555452607 15:89862471-89862472 15:89319240-89319241 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3523C>T (p.Gln1175Ter) SNV Pathogenic 566733 rs1567184117 15:89860727-89860727 15:89317496-89317496 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.646del (p.Ser216fs) deletion Pathogenic 567927 rs1567193844 15:89876340-89876340 15:89333109-89333109 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3104+3A>T SNV Pathogenic 587863 rs778573169 15:89862456-89862456 15:89319225-89319225 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2217_2230dup (p.Ile744fs) duplication Pathogenic 577990 rs1282521429 15:89866669-89866670 15:89323438-89323439 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_000326.5(RLBP1):c.504_508del (p.Ser168fs) deletion Pathogenic 595846 rs1379405913 15:89758308-89758312 15:89215077-89215081 MTC056 Mitochondrial Dna Depletion Syndrome 4a RLBP1 NM_000326.5(RLBP1):c.504_508del (p.Ser168fs) deletion Pathogenic 595846 rs1379405913 15:89758308-89758312 15:89215077-89215081 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3643+2T>C SNV Pathogenic 597808 rs1335880349 15:89860605-89860605 15:89317374-89317374 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_001113378.2(FANCI):c.*339dup duplication Pathogenic 619449 rs1567183122 15:89860028-89860029 15:89316797-89316798 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3572A>G (p.Lys1191Arg) SNV Pathogenic 619340 rs1567183988 15:89860678-89860678 15:89317447-89317447 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_001126131.2(POLG):c.3490_3493dup (p.Ala1165fs) duplication Pathogenic 619402 rs778115255 15:89860756-89860757 15:89317525-89317526 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3447dup (p.Ala1150fs) duplication Pathogenic 619312 rs1567185026 15:89861806-89861807 15:89318575-89318576 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_001126131.2(POLG):c.3430_3433dup (p.Asp1145fs) duplication Pathogenic 619311 rs1567185048 15:89861820-89861821 15:89318589-89318590 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3241C>T (p.Arg1081Ter) SNV Pathogenic 619310 rs767708989 15:89862194-89862194 15:89318963-89318963 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3067C>T (p.Gln1023Ter) SNV Pathogenic 619307 rs1567185770 15:89862496-89862496 15:89319265-89319265 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3149del (p.Lys1050fs) deletion Pathogenic 619309 rs1567185603 15:89862286-89862286 15:89319055-89319055 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2851T>A (p.Tyr951Asn) SNV Pathogenic 619425 rs1567186591 15:89864127-89864127 15:89320896-89320896 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2828G>A (p.Arg943His) SNV Pathogenic 619302 rs1567186613 15:89864150-89864150 15:89320919-89320919 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2827C>T (p.Arg943Cys) SNV Pathogenic 619301 rs1567186614 15:89864151-89864151 15:89320920-89320920 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_001126131.2(POLG):c.2674dup (p.Asp892fs) duplication Pathogenic 619306 rs1283198587 15:89864415-89864416 15:89321184-89321185 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2669A>C (p.Asp890Ala) SNV Pathogenic 619422 rs1567186779 15:89864421-89864421 15:89321190-89321190 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2662G>A (p.Gly888Ser) SNV Pathogenic 619332 rs1567186787 15:89864428-89864428 15:89321197-89321197 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2564T>C (p.Val855Ala) SNV Pathogenic 619420 rs963553787 15:89865001-89865001 15:89321770-89321770 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2551A>G (p.Thr851Ala) SNV Pathogenic 619395 rs775445970 15:89865014-89865014 15:89321783-89321783 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2543_2544dup (p.Thr849fs) duplication Pathogenic 619401 rs1567187103 15:89865020-89865021 15:89321789-89321790 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2143C>T (p.Gln715Ter) SNV Pathogenic 619398 rs1254855971 15:89867060-89867060 15:89323829-89323829 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2038del (p.Leu680fs) deletion Pathogenic 619396 rs1567188632 15:89867370-89867370 15:89324139-89324139 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1562del (p.Pro521fs) deletion Pathogenic 619448 rs1567191094 15:89870166-89870166 15:89326935-89326935 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1345C>T (p.Gln449Ter) SNV Pathogenic 619305 rs1567191417 15:89870486-89870486 15:89327255-89327255 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1289T>C (p.Met430Thr) SNV Pathogenic 619407 rs1567191474 15:89870542-89870542 15:89327311-89327311 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1120C>T (p.Arg374Ter) SNV Pathogenic 619394 rs960142425 15:89871966-89871966 15:89328735-89328735 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.705G>A (p.Trp235Ter) SNV Pathogenic 619303 rs1567192879 15:89873462-89873462 15:89330231-89330231 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.698dup (p.Tyr233Ter) duplication Pathogenic 619403 rs1567192884 15:89873468-89873469 15:89330237-89330238 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2480+1G>A SNV Pathogenic 619400 rs1567187326 15:89865192-89865192 15:89321961-89321961 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2426+1G>C SNV Pathogenic 619399 rs1567187745 15:89865972-89865972 15:89322741-89322741 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3104+1G>A SNV Pathogenic 619308 rs138917386 15:89862458-89862458 15:89319227-89319227 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2070+1G>A SNV Pathogenic 619397 rs1567188588 15:89867337-89867337 15:89324106-89324106 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2157+5_2157+6delinsAG indel Pathogenic 619500 15:89867040-89867041 15:89323809-89323810 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_001126131.2(POLG):c.3255dup (p.Ser1086fs) duplication Pathogenic 640935 15:89862179-89862180 15:89318948-89318949 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.660G>A (p.Trp220Ter) SNV Pathogenic 648373 15:89873507-89873507 15:89330276-89330276 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.951_961dup (p.Lys321fs) duplication Pathogenic 694426 15:89872235-89872236 15:89329004-89329005 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.75G>A (p.Trp25Ter) SNV Pathogenic 694427 15:89876911-89876911 15:89333680-89333680 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.2884dup (p.Ala962fs) duplication Pathogenic 845148 15:89864093-89864094 15:89320862-89320863 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2864A>G (p.Tyr955Cys) SNV Pathogenic 13495 rs113994099 15:89864114-89864114 15:89320883-89320883 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) SNV Pathogenic 13496 rs113994095 15:89870432-89870432 15:89327201-89327201 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_001126131.2(POLG):c.2542G>A (p.Gly848Ser) SNV Pathogenic 13502 rs113994098 15:89865023-89865023 15:89321792-89321792 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2617G>T (p.Glu873Ter) SNV Pathogenic 13504 rs121918047 15:89864473-89864473 15:89321242-89321242 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2794C>T (p.His932Tyr) SNV Pathogenic 13500 rs121918048 15:89864184-89864184 15:89320953-89320953 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3057G>A (p.Trp1019Ter) SNV Pathogenic 13511 rs1567185775 15:89862506-89862506 15:89319275-89319275 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.679C>T (p.Arg227Trp) SNV Pathogenic 13515 rs121918056 15:89873488-89873488 15:89330257-89330257 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_001126131.2(POLG):c.3218C>T (p.Pro1073Leu) SNV Pathogenic 13516 rs267606959 15:89862217-89862217 15:89318986-89318986 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2558G>A (p.Arg853Gln) SNV Pathogenic 206529 rs796052888 15:89865007-89865007 15:89321776-89321776 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2420G>A (p.Arg807His) SNV Pathogenic 206523 rs796052887 15:89865979-89865979 15:89322748-89322748 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_001126131.2(POLG):c.2395del (p.Ser799fs) deletion Pathogenic 206632 rs796052919 15:89866004-89866004 15:89322773-89322773 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_001126131.2(POLG):c.1268_1269CT[1] (p.Leu424fs) short repeat Pathogenic 206608 rs796052908 15:89870560-89870561 15:89327329-89327330 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1433+1G>A SNV Pathogenic 280017 rs771623994 15:89870397-89870397 15:89327166-89327166 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.202C>T (p.Gln68Ter) SNV Pathogenic 279988 rs202039305 15:89876784-89876784 15:89333553-89333553 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.925C>T (p.Arg309Cys) SNV Pathogenic 280375 rs886041592 15:89872272-89872272 15:89329041-89329041 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2740A>C (p.Thr914Pro) SNV Pathogenic 279961 rs139590686 15:89864238-89864238 15:89321007-89321007 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2897T>G (p.Leu966Arg) SNV Pathogenic 372473 rs142347031 15:89864081-89864081 15:89320850-89320850 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2125C>T (p.Arg709Ter) SNV Pathogenic 381519 rs867038717 15:89867078-89867078 15:89323847-89323847 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1789C>T (p.Arg597Trp) SNV Pathogenic/Likely pathogenic 381520 rs139717885 15:89868841-89868841 15:89325610-89325610 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3483-2A>G SNV Pathogenic/Likely pathogenic 372866 rs1057518035 15:89860769-89860769 15:89317538-89317538 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3285C>G (p.Ser1095Arg) SNV Pathogenic/Likely pathogenic 381517 rs761649878 15:89861969-89861969 15:89318738-89318738 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2870C>T (p.Ala957Val) SNV Pathogenic/Likely pathogenic 280016 rs753160398 15:89864108-89864108 15:89320877-89320877 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.915C>G (p.Ser305Arg) SNV Pathogenic/Likely pathogenic 206588 rs769410130 15:89872282-89872282 15:89329051-89329051 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1943C>G (p.Pro648Arg) SNV Pathogenic/Likely pathogenic 206606 rs796052906 15:89868687-89868687 15:89325456-89325456 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.3286C>T SNV Pathogenic/Likely pathogenic 206556 rs201732356 15:89861968-89861968 15:89318737-89318737 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) SNV Pathogenic/Likely pathogenic 13513 rs121918054 15:89866691-89866691 15:89323460-89323460 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.911T>G (p.Leu304Arg) SNV Pathogenic/Likely pathogenic 13497 rs121918044 15:89872286-89872286 15:89329055-89329055 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3483-4_3497del deletion Pathogenic/Likely pathogenic 619313 rs756325504 15:89860753-89860771 15:89317522-89317540 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1721G>A (p.Arg574Gln) SNV Pathogenic/Likely pathogenic 619321 rs764287987 15:89868909-89868909 15:89325678-89325678 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2563G>T (p.Val855Leu) SNV Pathogenic/Likely pathogenic 619419 rs771254207 15:89865002-89865002 15:89321771-89321771 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3573G>T (p.Lys1191Asn) SNV Pathogenic/Likely pathogenic 426681 rs1085307741 15:89860677-89860677 15:89317446-89317446 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1880G>A (p.Arg627Gln) SNV Pathogenic/Likely pathogenic 436359 rs375305567 15:89868750-89868750 15:89325519-89325519 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3409dup (p.Val1137fs) duplication Pathogenic/Likely pathogenic 423899 rs1555452461 15:89861844-89861845 15:89318613-89318614 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1874C>T (p.Pro625Leu) SNV Pathogenic/Likely pathogenic 419975 rs1064794214 15:89868756-89868756 15:89325525-89325525 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_001126131.2(POLG):c.3240_3242dup (p.Arg1081dup) duplication Likely pathogenic 419974 rs1064794213 15:89862192-89862193 15:89318961-89318962 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2799T>G (p.Ser933Arg) SNV Likely pathogenic 431950 rs765916932 15:89864179-89864179 15:89320948-89320948 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2584G>A (p.Ala862Thr) SNV Likely pathogenic 431952 rs778429780 15:89864981-89864981 15:89321750-89321750 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3412C>T (p.Arg1138Cys) SNV Likely pathogenic 559173 rs767138032 15:89861842-89861842 15:89318611-89318611 MTC056 Mitochondrial Dna Depletion Syndrome 4a EDAR NM_022336.4(EDAR):c.265C>T (p.Arg89Cys) SNV Likely pathogenic 562015 rs780424781 2:109545745-109545745 2:108929289-108929289 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2555G>A (p.Arg852His) SNV Likely pathogenic 619418 rs1567187093 15:89865010-89865010 15:89321779-89321779 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2391_2393del (p.Met797del) deletion Likely pathogenic 619325 rs1567187766 15:89866006-89866008 15:89322775-89322777 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2262C>G (p.His754Gln) SNV Likely pathogenic 619324 rs1567188178 15:89866638-89866638 15:89323407-89323407 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2657T>C (p.Leu886Pro) SNV Likely pathogenic 619331 rs769210629 15:89864433-89864433 15:89321202-89321202 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2698G>A (p.Ala900Thr) SNV Likely pathogenic 619423 rs935602068 15:89864392-89864392 15:89321161-89321161 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2589C>G (p.Ser863Arg) SNV Likely pathogenic 619328 rs1567187057 15:89864976-89864976 15:89321745-89321745 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1418T>C (p.Leu473Pro) SNV Likely pathogenic 619314 rs1567191334 15:89870413-89870413 15:89327182-89327182 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1862G>A (p.Gly621Asp) SNV Likely pathogenic 619411 rs1567190247 15:89868768-89868768 15:89325537-89325537 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2858G>A (p.Arg953His) SNV Likely pathogenic 619427 rs1567186581 15:89864120-89864120 15:89320889-89320889 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2854G>A (p.Gly952Ser) SNV Likely pathogenic 619426 rs531744363 15:89864124-89864124 15:89320893-89320893 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3242G>C (p.Arg1081Pro) SNV Likely pathogenic 619430 rs140079523 15:89862193-89862193 15:89318962-89318962 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3338T>C (p.Leu1113Pro) SNV Likely pathogenic 619436 rs1567185178 15:89861916-89861916 15:89318685-89318685 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3562T>C (p.Cys1188Arg) SNV Likely pathogenic 619339 rs754844175 15:89860688-89860688 15:89317457-89317457 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3526T>C (p.Ser1176Pro) SNV Likely pathogenic 619338 rs763205408 15:89860724-89860724 15:89317493-89317493 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.955A>G (p.Lys319Glu) SNV Likely pathogenic 619304 rs766465907 15:89872242-89872242 15:89329011-89329011 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.470T>C (p.Leu157Pro) SNV Likely pathogenic 619440 rs1567194013 15:89876516-89876516 15:89333285-89333285 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.248T>C (p.Leu83Pro) SNV Likely pathogenic 619416 rs1567194243 15:89876738-89876738 15:89333507-89333507 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1789C>G (p.Arg597Gly) SNV Likely pathogenic 619410 rs139717885 15:89868841-89868841 15:89325610-89325610 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.2981+2T>G SNV Likely pathogenic 859116 15:89863995-89863995 15:89320764-89320764 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2665G>C (p.Ala889Pro) SNV Likely pathogenic 694429 15:89864425-89864425 15:89321194-89321194 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2310C>A (p.Phe770Leu) SNV Likely pathogenic 694425 15:89866089-89866089 15:89322858-89322858 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.3282del (p.Ser1095fs) deletion Likely pathogenic 813494 15:89861972-89861972 15:89318741-89318741 MTC056 Mitochondrial Dna Depletion Syndrome 4a EDAR NM_022336.4(EDAR):c.266G>A (p.Arg89His) SNV Likely pathogenic 5849 rs121908450 2:109545744-109545744 2:108929288-108929288 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2598+2T>C SNV Likely pathogenic 640002 15:89864965-89864965 15:89321734-89321734 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3470A>G (p.Asn1157Ser) SNV Likely pathogenic 206565 rs548076633 15:89861784-89861784 15:89318553-89318553 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3450C>T (p.Ala1150=) SNV Conflicting interpretations of pathogenicity 206477 rs774880085 15:89861804-89861804 15:89318573-89318573 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3586G>A (p.Asp1196Asn) SNV Conflicting interpretations of pathogenicity 206571 rs765344513 15:89860664-89860664 15:89317433-89317433 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3559C>T (p.Arg1187Trp) SNV Conflicting interpretations of pathogenicity 206570 rs369544574 15:89860691-89860691 15:89317460-89317460 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3516C>G (p.Asp1172Glu) SNV Conflicting interpretations of pathogenicity 206569 rs766196697 15:89860734-89860734 15:89317503-89317503 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3509T>G (p.Leu1170Arg) SNV Conflicting interpretations of pathogenicity 206618 rs796052913 15:89860741-89860741 15:89317510-89317510 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2724C>T (p.Ala908=) SNV Conflicting interpretations of pathogenicity 194733 rs377390914 15:89864366-89864366 15:89321135-89321135 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2857C>T (p.Arg953Cys) SNV Conflicting interpretations of pathogenicity 194838 rs11546842 15:89864121-89864121 15:89320890-89320890 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.131A>G (p.Gln44Arg) SNV Conflicting interpretations of pathogenicity 195177 rs757120802 15:89876855-89876855 15:89333624-89333624 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.32G>A (p.Gly11Asp) SNV Conflicting interpretations of pathogenicity 195182 rs765472726 15:89876954-89876954 15:89333723-89333723 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.803G>C (p.Gly268Ala) SNV Conflicting interpretations of pathogenicity 196354 rs61752784 15:89873364-89873364 15:89330133-89330133 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1174C>G (p.Leu392Val) SNV Conflicting interpretations of pathogenicity 198151 rs145289229 15:89871763-89871763 15:89328532-89328532 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3286C>G (p.Arg1096Gly) SNV Conflicting interpretations of pathogenicity 206555 rs201732356 15:89861968-89861968 15:89318737-89318737 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3652C>T (p.Leu1218=) SNV Conflicting interpretations of pathogenicity 206489 rs146301349 15:89860050-89860050 15:89316819-89316819 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3287G>A (p.Arg1096His) SNV Conflicting interpretations of pathogenicity 206557 rs368435864 15:89861967-89861967 15:89318736-89318736 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3139C>T (p.Arg1047Trp) SNV Conflicting interpretations of pathogenicity 206548 rs181860632 15:89862296-89862296 15:89319065-89319065 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3104+8C>A SNV Conflicting interpretations of pathogenicity 206471 rs754615624 15:89862451-89862451 15:89319220-89319220 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3482+7G>A SNV Conflicting interpretations of pathogenicity 129996 rs200309191 15:89861765-89861765 15:89318534-89318534 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.264C>T (p.Phe88=) SNV Conflicting interpretations of pathogenicity 129992 rs144439703 15:89876722-89876722 15:89333491-89333491 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2735-7C>G SNV Conflicting interpretations of pathogenicity 138752 rs200372494 15:89864250-89864250 15:89321019-89321019 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2853C>T (p.Tyr951=) SNV Conflicting interpretations of pathogenicity 138753 rs41546712 15:89864125-89864125 15:89320894-89320894 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.87C>T (p.Ser29=) SNV Conflicting interpretations of pathogenicity 138755 rs587781116 15:89876899-89876899 15:89333668-89333668 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3198G>A (p.Thr1066=) SNV Conflicting interpretations of pathogenicity 138756 rs61752780 15:89862237-89862237 15:89319006-89319006 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3216C>G (p.Thr1072=) SNV Conflicting interpretations of pathogenicity 138757 rs146936870 15:89862219-89862219 15:89318988-89318988 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3482+6C>T SNV Conflicting interpretations of pathogenicity 138760 rs55779802 15:89861766-89861766 15:89318535-89318535 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3564C>T (p.Cys1188=) SNV Conflicting interpretations of pathogenicity 138765 rs146584956 15:89860686-89860686 15:89317455-89317455 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3700C>A (p.Arg1234=) SNV Conflicting interpretations of pathogenicity 138767 rs144346886 15:89860002-89860002 15:89316771-89316771 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.798G>T (p.Val266=) SNV Conflicting interpretations of pathogenicity 138769 rs143631183 15:89873369-89873369 15:89330138-89330138 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.975C>A (p.Pro325=) SNV Conflicting interpretations of pathogenicity 138771 rs551973680 15:89872222-89872222 15:89328991-89328991 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1066C>T (p.Leu356=) SNV Conflicting interpretations of pathogenicity 138772 rs371431444 15:89872020-89872020 15:89328789-89328789 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1275C>T (p.Ala425=) SNV Conflicting interpretations of pathogenicity 138774 rs147404477 15:89870556-89870556 15:89327325-89327325 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1386G>A (p.Ser462=) SNV Conflicting interpretations of pathogenicity 138775 rs62640034 15:89870445-89870445 15:89327214-89327214 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1585+11T>C SNV Conflicting interpretations of pathogenicity 138776 rs201566815 15:89870132-89870132 15:89326901-89326901 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1743C>T (p.Asp581=) SNV Conflicting interpretations of pathogenicity 138779 rs140743000 15:89868887-89868887 15:89325656-89325656 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1837C>T (p.His613Tyr) SNV Conflicting interpretations of pathogenicity 193643 rs147407423 15:89868793-89868793 15:89325562-89325562 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1904C>T (p.Pro635Leu) SNV Conflicting interpretations of pathogenicity 206503 rs773994204 15:89868726-89868726 15:89325495-89325495 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1898A>C (p.Lys633Thr) SNV Conflicting interpretations of pathogenicity 206605 rs568913937 15:89868732-89868732 15:89325501-89325501 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2051A>G (p.Asn684Ser) SNV Conflicting interpretations of pathogenicity 206507 rs202244328 15:89867357-89867357 15:89324126-89324126 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2021G>A (p.Gly674Asp) SNV Conflicting interpretations of pathogenicity 206462 rs200257554 15:89867387-89867387 15:89324156-89324156 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) SNV Conflicting interpretations of pathogenicity 206596 rs145843073 15:89870429-89870429 15:89327198-89327198 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2392A>C (p.Ile798Leu) SNV Conflicting interpretations of pathogenicity 206464 rs796052873 15:89866007-89866007 15:89322776-89322776 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2246T>C (p.Phe749Ser) SNV Conflicting interpretations of pathogenicity 206520 rs202037973 15:89866654-89866654 15:89323423-89323423 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2207A>G (p.Asn736Ser) SNV Conflicting interpretations of pathogenicity 206516 rs138457939 15:89866693-89866693 15:89323462-89323462 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2554C>T (p.Arg852Cys) SNV Conflicting interpretations of pathogenicity 206528 rs144500145 15:89865011-89865011 15:89321780-89321780 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_001126131.2(POLG):c.2890C>T (p.Arg964Cys) SNV Conflicting interpretations of pathogenicity 206537 rs201477273 15:89864088-89864088 15:89320857-89320857 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2642C>T (p.Pro881Leu) SNV Conflicting interpretations of pathogenicity 206611 rs375935084 15:89864448-89864448 15:89321217-89321217 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2636A>G (p.Gln879Arg) SNV Conflicting interpretations of pathogenicity 206532 rs368587966 15:89864454-89864454 15:89321223-89321223 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2620T>A (p.Leu874Met) SNV Conflicting interpretations of pathogenicity 206531 rs758402960 15:89864470-89864470 15:89321239-89321239 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1311C>T (p.Val437=) SNV Conflicting interpretations of pathogenicity 206498 rs62640035 15:89870520-89870520 15:89327289-89327289 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1156C>T (p.Arg386Cys) SNV Conflicting interpretations of pathogenicity 206589 rs199759055 15:89871930-89871930 15:89328699-89328699 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.856-17CTC[4] short repeat Conflicting interpretations of pathogenicity 206496 rs200056162 15:89872344-89872346 15:89329113-89329115 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.855G>C (p.Gln285His) SNV Conflicting interpretations of pathogenicity 206584 rs141367015 15:89873312-89873312 15:89330081-89330081 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.830A>T (p.His277Leu) SNV Conflicting interpretations of pathogenicity 206583 rs138929605 15:89873337-89873337 15:89330106-89330106 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.678G>C (p.Gln226His) SNV Conflicting interpretations of pathogenicity 206581 rs147282197 15:89873489-89873489 15:89330258-89330258 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.408C>G (p.Asp136Glu) SNV Conflicting interpretations of pathogenicity 206576 rs115109291 15:89876578-89876578 15:89333347-89333347 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.391T>C (p.Tyr131His) SNV Conflicting interpretations of pathogenicity 206492 rs562847013 15:89876595-89876595 15:89333364-89333364 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.328C>T (p.His110Tyr) SNV Conflicting interpretations of pathogenicity 206619 rs139599587 15:89876658-89876658 15:89333427-89333427 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2419C>T (p.Arg807Cys) SNV Conflicting interpretations of pathogenicity 279982 rs769827124 15:89865980-89865980 15:89322749-89322749 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3075G>A (p.Leu1025=) SNV Conflicting interpretations of pathogenicity 239380 rs146404260 15:89862488-89862488 15:89319257-89319257 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2663G>A (p.Gly888Asp) SNV Conflicting interpretations of pathogenicity 239379 rs878854560 15:89864427-89864427 15:89321196-89321196 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2220C>T (p.Asn740=) SNV Conflicting interpretations of pathogenicity 258790 rs141538857 15:89866680-89866680 15:89323449-89323449 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.581C>T (p.Ala194Val) SNV Conflicting interpretations of pathogenicity 206493 rs779122022 15:89876405-89876405 15:89333174-89333174 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.488C>T (p.Pro163Leu) SNV Conflicting interpretations of pathogenicity 206579 rs752892262 15:89876498-89876498 15:89333267-89333267 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.428C>T (p.Ala143Val) SNV Conflicting interpretations of pathogenicity 206577 rs796052899 15:89876558-89876558 15:89333327-89333327 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.154C>A (p.Gln52Lys) SNV Conflicting interpretations of pathogenicity 206485 rs376683989 15:89876832-89876832 15:89333601-89333601 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.125G>A (p.Arg42Gln) SNV Conflicting interpretations of pathogenicity 206476 rs74382477 15:89876861-89876861 15:89333630-89333630 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.970C>A (p.Pro324Thr) SNV Conflicting interpretations of pathogenicity 211927 rs2307437 15:89872227-89872227 15:89328996-89328996 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1198G>A (p.Val400Met) SNV Conflicting interpretations of pathogenicity 656231 15:89871739-89871739 15:89328508-89328508 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2591A>T (p.Asn864Ile) SNV Conflicting interpretations of pathogenicity 641822 15:89864974-89864974 15:89321743-89321743 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3151G>C (p.Gly1051Arg) SNV Conflicting interpretations of pathogenicity 13501 rs121918049 15:89862284-89862284 15:89319053-89319053 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) SNV Conflicting interpretations of pathogenicity 13505 rs113994096 15:89868870-89868870 15:89325639-89325639 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) SNV Conflicting interpretations of pathogenicity 13503 rs113994094 15:89873415-89873415 15:89330184-89330184 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_001126131.2(POLG):c.2243G>C (p.Trp748Ser) SNV Conflicting interpretations of pathogenicity 13507 rs113994097 15:89866657-89866657 15:89323426-89323426 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) SNV Conflicting interpretations of pathogenicity 13509 rs41549716 15:89865073-89865073 15:89321842-89321842 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.970C>T (p.Pro324Ser) SNV Conflicting interpretations of pathogenicity 21320 rs2307437 15:89872227-89872227 15:89328996-89328996 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) SNV Conflicting interpretations of pathogenicity 65665 rs61752783 15:89870178-89870178 15:89326947-89326947 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.578G>A (p.Arg193Gln) SNV Conflicting interpretations of pathogenicity 21318 rs3176162 15:89876408-89876408 15:89333177-89333177 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3436C>T (p.Arg1146Cys) SNV Conflicting interpretations of pathogenicity 21313 rs2307440 15:89861818-89861818 15:89318587-89318587 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2028G>A (p.Ala676=) SNV Conflicting interpretations of pathogenicity 138743 rs373550219 15:89867380-89867380 15:89324149-89324149 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2071-14T>G SNV Conflicting interpretations of pathogenicity 138744 rs150088708 15:89867146-89867146 15:89323915-89323915 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2109C>T (p.Ala703=) SNV Conflicting interpretations of pathogenicity 138745 rs2307429 15:89867094-89867094 15:89323863-89323863 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2157+11C>T SNV Conflicting interpretations of pathogenicity 138746 rs56411159 15:89867035-89867035 15:89323804-89323804 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2481-7C>T SNV Conflicting interpretations of pathogenicity 138747 rs2307448 15:89865091-89865091 15:89321860-89321860 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2541C>T (p.Ala847=) SNV Conflicting interpretations of pathogenicity 138748 rs143810171 15:89865024-89865024 15:89321793-89321793 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2601T>C (p.Pro867=) SNV Conflicting interpretations of pathogenicity 138750 rs201749977 15:89864489-89864489 15:89321258-89321258 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.844T>G (p.Tyr282Asp) SNV Conflicting interpretations of pathogenicity 803122 15:89873323-89873323 15:89330092-89330092 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3273+8G>A SNV Conflicting interpretations of pathogenicity 619432 rs776468044 15:89862154-89862154 15:89318923-89318923 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3614G>C (p.Gly1205Ala) SNV Conflicting interpretations of pathogenicity 619343 rs772737979 15:89860636-89860636 15:89317405-89317405 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3229T>G (p.Cys1077Gly) SNV Conflicting interpretations of pathogenicity 619336 rs1567185468 15:89862206-89862206 15:89318975-89318975 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2573C>T (p.Thr858Ile) SNV Conflicting interpretations of pathogenicity 619421 rs759128787 15:89864992-89864992 15:89321761-89321761 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3151G>A (p.Gly1051Arg) SNV Conflicting interpretations of pathogenicity 566044 rs121918049 15:89862284-89862284 15:89319053-89319053 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1790G>A (p.Arg597Gln) SNV Conflicting interpretations of pathogenicity 576551 rs1001570418 15:89868840-89868840 15:89325609-89325609 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3274-4C>T SNV Conflicting interpretations of pathogenicity 516497 rs760343963 15:89861984-89861984 15:89318753-89318753 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3640C>T (p.Gln1214Ter) SNV Conflicting interpretations of pathogenicity 488798 rs781256643 15:89860610-89860610 15:89317379-89317379 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.137A>G (p.Gln46Arg) SNV Conflicting interpretations of pathogenicity 497598 rs1555454339 15:89876849-89876849 15:89333618-89333618 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.158_166del (p.Gln53_Gln55del) deletion Conflicting interpretations of pathogenicity 501355 rs769735492 15:89876820-89876828 15:89333589-89333597 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2264A>C (p.Lys755Thr) SNV Conflicting interpretations of pathogenicity 501901 rs770438363 15:89866636-89866636 15:89323405-89323405 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3222G>T (p.Val1074=) SNV Conflicting interpretations of pathogenicity 514380 rs746773616 15:89862213-89862213 15:89318982-89318982 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3258G>A (p.Ser1086=) SNV Conflicting interpretations of pathogenicity 596900 rs763312940 15:89862177-89862177 15:89318946-89318946 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2878C>T (p.Pro960Ser) SNV Conflicting interpretations of pathogenicity 594839 rs373298169 15:89864100-89864100 15:89320869-89320869 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1251G>A (p.Arg417=) SNV Conflicting interpretations of pathogenicity 594345 rs1567191509 15:89870580-89870580 15:89327349-89327349 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3383G>A (p.Arg1128His) SNV Conflicting interpretations of pathogenicity 593423 rs1405268319 15:89861871-89861871 15:89318640-89318640 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1761G>A (p.Pro587=) SNV Conflicting interpretations of pathogenicity 436360 rs374805003 15:89868869-89868869 15:89325638-89325638 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2665G>A (p.Ala889Thr) SNV Conflicting interpretations of pathogenicity 448104 rs763393580 15:89864425-89864425 15:89321194-89321194 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3527C>T (p.Ser1176Leu) SNV Conflicting interpretations of pathogenicity 430382 rs776031396 15:89860723-89860723 15:89317492-89317492 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3519G>A (p.Leu1173=) SNV Conflicting interpretations of pathogenicity 413485 rs953889846 15:89860731-89860731 15:89317500-89317500 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_001126131.2(POLG):c.126_128GCA[16] (p.Gln51_Gln55dup) short repeat Conflicting interpretations of pathogenicity 418621 rs41550117 15:89876827-89876828 15:89333596-89333597 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.125_139dup duplication Conflicting interpretations of pathogenicity 421770 rs780010436 15:89876846-89876847 15:89333615-89333616 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.125_127dup short repeat Conflicting interpretations of pathogenicity 419072 rs761080016 15:89876858-89876859 15:89333627-89333628 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_001126131.2(POLG):c.126_128GCA[15] (p.Gln52_Gln55dup) short repeat Conflicting interpretations of pathogenicity 458688 rs41550117 15:89876827-89876828 15:89333596-89333597 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3242G>A (p.Arg1081Gln) SNV Conflicting interpretations of pathogenicity 458712 rs140079523 15:89862193-89862193 15:89318962-89318962 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1276G>A (p.Gly426Ser) SNV Conflicting interpretations of pathogenicity 458687 rs775576189 15:89870555-89870555 15:89327324-89327324 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2293C>A (p.Pro765Thr) SNV Conflicting interpretations of pathogenicity 458703 rs1003442806 15:89866106-89866106 15:89322875-89322875 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2027C>T (p.Ala676Val) SNV Conflicting interpretations of pathogenicity 451086 rs376306906 15:89867381-89867381 15:89324150-89324150 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3667A>G (p.Ile1223Val) SNV Conflicting interpretations of pathogenicity 458718 rs148786642 15:89860035-89860035 15:89316804-89316804 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2606G>A (p.Arg869Gln) SNV Conflicting interpretations of pathogenicity 436357 rs1356604153 15:89864484-89864484 15:89321253-89321253 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.330C>T (p.His110=) SNV Conflicting interpretations of pathogenicity 458714 rs376266682 15:89876656-89876656 15:89333425-89333425 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2982-3C>T SNV Conflicting interpretations of pathogenicity 382531 rs538731397 15:89862584-89862584 15:89319353-89319353 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.264C>G (p.Phe88Leu) SNV Conflicting interpretations of pathogenicity 381522 rs144439703 15:89876722-89876722 15:89333491-89333491 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.186A>G (p.Leu62=) SNV Conflicting interpretations of pathogenicity 387577 rs745310138 15:89876800-89876800 15:89333569-89333569 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3444C>T (p.Arg1148=) SNV Conflicting interpretations of pathogenicity 378417 rs374937961 15:89861810-89861810 15:89318579-89318579 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2149C>T (p.Leu717=) SNV Conflicting interpretations of pathogenicity 378413 rs779515404 15:89867054-89867054 15:89323823-89323823 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2121C>A (p.Asn707Lys) SNV Conflicting interpretations of pathogenicity 380291 rs755502359 15:89867082-89867082 15:89323851-89323851 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1905G>T (p.Pro635=) SNV Conflicting interpretations of pathogenicity 378411 rs550592814 15:89868725-89868725 15:89325494-89325494 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1356T>C (p.Tyr452=) SNV Conflicting interpretations of pathogenicity 380697 rs3176179 15:89870475-89870475 15:89327244-89327244 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2613C>T (p.Gly871=) SNV Conflicting interpretations of pathogenicity 386729 rs372878701 15:89864477-89864477 15:89321246-89321246 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1389G>A (p.Leu463=) SNV Conflicting interpretations of pathogenicity 385846 rs150828914 15:89870442-89870442 15:89327211-89327211 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2880C>T (p.Pro960=) SNV Conflicting interpretations of pathogenicity 378415 rs752500492 15:89864098-89864098 15:89320867-89320867 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1949+3A>G SNV Conflicting interpretations of pathogenicity 390286 rs1057523710 15:89868678-89868678 15:89325447-89325447 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1850G>A (p.Arg617His) SNV Conflicting interpretations of pathogenicity 282075 rs779961986 15:89868780-89868780 15:89325549-89325549 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2019C>T (p.Ala673=) SNV Conflicting interpretations of pathogenicity 285501 rs557179508 15:89867389-89867389 15:89324158-89324158 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2487C>T (p.Pro829=) SNV Conflicting interpretations of pathogenicity 288698 rs147563527 15:89865078-89865078 15:89321847-89321847 MTC056 Mitochondrial Dna Depletion Syndrome 4a FANCI NM_002693.2(POLG):c.*49G>A SNV Conflicting interpretations of pathogenicity 317308 rs758880377 15:89859933-89859933 15:89316702-89316702 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.*49G>A SNV Conflicting interpretations of pathogenicity 317308 rs758880377 15:89859933-89859933 15:89316702-89316702 MTC056 Mitochondrial Dna Depletion Syndrome 4a FANCI NM_002693.2(POLG):c.*30G>A SNV Conflicting interpretations of pathogenicity 317310 rs3087376 15:89859952-89859952 15:89316721-89316721 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.*30G>A SNV Conflicting interpretations of pathogenicity 317310 rs3087376 15:89859952-89859952 15:89316721-89316721 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2157+15G>A SNV Conflicting interpretations of pathogenicity 317329 rs766521182 15:89867031-89867031 15:89323800-89323800 MTC056 Mitochondrial Dna Depletion Syndrome 4a FANCI NM_002693.2(POLG):c.3644-16T>C SNV Conflicting interpretations of pathogenicity 317312 rs536522307 15:89860074-89860074 15:89316843-89316843 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3644-16T>C SNV Conflicting interpretations of pathogenicity 317312 rs536522307 15:89860074-89860074 15:89316843-89316843 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3549C>T (p.Val1183=) SNV Conflicting interpretations of pathogenicity 317322 rs777231247 15:89860701-89860701 15:89317470-89317470 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3273+6T>A SNV Conflicting interpretations of pathogenicity 317324 rs886051522 15:89862156-89862156 15:89318925-89318925 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2481-10A>C SNV Conflicting interpretations of pathogenicity 317326 rs555280530 15:89865094-89865094 15:89321863-89321863 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1887C>T (p.Asp629=) SNV Conflicting interpretations of pathogenicity 317332 rs886051524 15:89868743-89868743 15:89325512-89325512 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.-80C>T SNV Conflicting interpretations of pathogenicity 317337 rs3087378 15:89877065-89877065 15:89333834-89333834 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1763G>A (p.Gly588Asp) SNV Conflicting interpretations of pathogenicity 372694 rs371334941 15:89868867-89868867 15:89325636-89325636 MTC056 Mitochondrial Dna Depletion Syndrome 4a FANCI NM_002693.2(POLG):c.3700C>G (p.Arg1234Gly) SNV Uncertain significance 317311 rs144346886 15:89860002-89860002 15:89316771-89316771 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3700C>G (p.Arg1234Gly) SNV Uncertain significance 317311 rs144346886 15:89860002-89860002 15:89316771-89316771 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1097G>C (p.Gly366Ala) SNV Uncertain significance 291293 rs757315161 15:89871989-89871989 15:89328758-89328758 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.360G>T (p.Leu120Phe) SNV Uncertain significance 288459 rs886043905 15:89876626-89876626 15:89333395-89333395 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2446C>G (p.Leu816Val) SNV Uncertain significance 379675 rs748262645 15:89865227-89865227 15:89321996-89321996 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3542G>A (p.Ser1181Asn) SNV Uncertain significance 374526 rs149921636 15:89860708-89860708 15:89317477-89317477 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3204C>G (p.Asp1068Glu) SNV Uncertain significance 388649 rs1057523186 15:89862231-89862231 15:89319000-89319000 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3046G>A (p.Glu1016Lys) SNV Uncertain significance 392141 rs763290547 15:89862517-89862517 15:89319286-89319286 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.17G>C (p.Trp6Ser) SNV Uncertain significance 391825 rs1057524249 15:89876969-89876969 15:89333738-89333738 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2727C>T (p.Gly909=) SNV Uncertain significance 393144 rs752611524 15:89864363-89864363 15:89321132-89321132 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.167C>G (p.Pro56Arg) SNV Uncertain significance 458692 rs1022612492 15:89876819-89876819 15:89333588-89333588 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3671T>C (p.Ile1224Thr) SNV Uncertain significance 449313 rs779072487 15:89860031-89860031 15:89316800-89316800 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1735C>T (p.Arg579Trp) SNV Uncertain significance 458695 rs556925652 15:89868895-89868895 15:89325664-89325664 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1723A>C (p.Lys575Gln) SNV Uncertain significance 458694 rs1379482879 15:89868907-89868907 15:89325676-89325676 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.398A>G (p.Asp133Gly) SNV Uncertain significance 458719 rs540905618 15:89876588-89876588 15:89333357-89333357 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3482+6C>G SNV Uncertain significance 458716 rs55779802 15:89861766-89861766 15:89318535-89318535 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2712C>G (p.Asp904Glu) SNV Uncertain significance 458707 rs770458126 15:89864378-89864378 15:89321147-89321147 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2221G>A (p.Asp741Asn) SNV Uncertain significance 458702 rs751736420 15:89866679-89866679 15:89323448-89323448 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1349G>T (p.Gly450Val) SNV Uncertain significance 452164 rs757804090 15:89870482-89870482 15:89327251-89327251 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_001126131.2(POLG):c.1223_1225AGC[2] (p.Gln410del) short repeat Uncertain significance 449625 rs765446994 15:89871706-89871708 15:89328475-89328477 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.729C>A (p.Asp243Glu) SNV Uncertain significance 452496 rs757917194 15:89873438-89873438 15:89330207-89330207 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1882C>T (p.Arg628Trp) SNV Uncertain significance 458698 rs754245040 15:89868748-89868748 15:89325517-89325517 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1712+4A>C SNV Uncertain significance 458693 rs1555453528 15:89869839-89869839 15:89326608-89326608 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.602T>G (p.Val201Gly) SNV Uncertain significance 458720 rs750928338 15:89876384-89876384 15:89333153-89333153 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.32G>T (p.Gly11Val) SNV Uncertain significance 458713 rs765472726 15:89876954-89876954 15:89333723-89333723 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3442C>T (p.Arg1148Cys) SNV Uncertain significance 458715 rs149099318 15:89861812-89861812 15:89318581-89318581 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2481-9C>A SNV Uncertain significance 458705 rs369422789 15:89865093-89865093 15:89321862-89321862 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2134G>A (p.Val712Met) SNV Uncertain significance 458701 rs748834542 15:89867069-89867069 15:89323838-89323838 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1885G>C (p.Asp629His) SNV Uncertain significance 458699 rs1555453424 15:89868745-89868745 15:89325514-89325514 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2480+5G>C SNV Uncertain significance 458704 rs1229969606 15:89865188-89865188 15:89321957-89321957 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1795A>C (p.Thr599Pro) SNV Uncertain significance 423488 rs1064796458 15:89868835-89868835 15:89325604-89325604 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2164C>T (p.Arg722Cys) SNV Uncertain significance 405578 rs763824242 15:89866736-89866736 15:89323505-89323505 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3009G>C (p.Trp1003Cys) SNV Uncertain significance 423485 rs1064796455 15:89862554-89862554 15:89319323-89319323 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2977C>T (p.Arg993Cys) SNV Uncertain significance 405570 rs551811489 15:89864001-89864001 15:89320770-89320770 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.653C>T (p.Ser218Leu) SNV Uncertain significance 405579 rs1060500775 15:89876333-89876333 15:89333102-89333102 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.641C>T (p.Ala214Val) SNV Uncertain significance 405572 rs948866053 15:89876345-89876345 15:89333114-89333114 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.395G>A (p.Gly132Glu) SNV Uncertain significance 405573 rs1060500774 15:89876591-89876591 15:89333360-89333360 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2815G>A (p.Val939Met) SNV Uncertain significance 405576 rs748045254 15:89864163-89864163 15:89320932-89320932 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1498G>A (p.Ala500Thr) SNV Uncertain significance 405575 rs745506700 15:89870230-89870230 15:89326999-89326999 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1262C>T (p.Pro421Leu) SNV Uncertain significance 405574 rs752240321 15:89870569-89870569 15:89327338-89327338 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1001G>A (p.Arg334Lys) SNV Uncertain significance 405571 rs776437525 15:89872196-89872196 15:89328965-89328965 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.659G>C (p.Trp220Ser) SNV Uncertain significance 405580 rs1004988362 15:89876327-89876327 15:89333096-89333096 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1389G>C (p.Leu463Phe) SNV Uncertain significance 405577 rs150828914 15:89870442-89870442 15:89327211-89327211 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3101G>A (p.Arg1034Lys) SNV Uncertain significance 429545 rs201014720 15:89862462-89862462 15:89319231-89319231 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3040A>G (p.Arg1014Gly) SNV Uncertain significance 430472 rs764195223 15:89862523-89862523 15:89319292-89319292 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1499C>A (p.Ala500Asp) SNV Uncertain significance 429440 rs780901280 15:89870229-89870229 15:89326998-89326998 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3656A>G (p.Asp1219Gly) SNV Uncertain significance 432851 rs776506626 15:89860046-89860046 15:89316815-89316815 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3638C>T (p.Pro1213Leu) SNV Uncertain significance 432447 rs1338265836 15:89860612-89860612 15:89317381-89317381 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3037G>T (p.Asp1013Tyr) SNV Uncertain significance 432740 rs1307399071 15:89862526-89862526 15:89319295-89319295 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2468G>A (p.Arg823His) SNV Uncertain significance 448102 rs751172552 15:89865205-89865205 15:89321974-89321974 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2152G>T (p.Ala718Ser) SNV Uncertain significance 432235 rs755783536 15:89867051-89867051 15:89323820-89323820 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1613A>C (p.Glu538Ala) SNV Uncertain significance 432020 rs767216577 15:89869942-89869942 15:89326711-89326711 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.744G>C (p.Glu248Asp) SNV Uncertain significance 431892 rs753407311 15:89873423-89873423 15:89330192-89330192 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2704C>G (p.Leu902Val) SNV Uncertain significance 593514 rs745528696 15:89864386-89864386 15:89321155-89321155 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.33C>T (p.Gly11=) SNV Uncertain significance 593990 rs1482684558 15:89876953-89876953 15:89333722-89333722 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1244T>G (p.Leu415Trp) SNV Uncertain significance 594216 rs376895501 15:89871693-89871693 15:89328462-89328462 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3560G>A (p.Arg1187Gln) SNV Uncertain significance 594667 rs199678775 15:89860690-89860690 15:89317459-89317459 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1094G>C (p.Gly365Ala) SNV Uncertain significance 573356 rs781181789 15:89871992-89871992 15:89328761-89328761 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.125_139del (p.Arg42_Gln46del) deletion Uncertain significance 581378 rs780010436 15:89876847-89876861 15:89333616-89333630 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2884G>A (p.Ala962Thr) SNV Uncertain significance 595463 rs760305377 15:89864094-89864094 15:89320863-89320863 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1894G>A (p.Ala632Thr) SNV Uncertain significance 597713 rs908875872 15:89868736-89868736 15:89325505-89325505 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3680C>A (p.Thr1227Asn) SNV Uncertain significance 598136 rs775517153 15:89860022-89860022 15:89316791-89316791 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.112G>C (p.Gly38Arg) SNV Uncertain significance 577782 rs866945104 15:89876874-89876874 15:89333643-89333643 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.260T>C (p.Ile87Thr) SNV Uncertain significance 585152 rs776347449 15:89876726-89876726 15:89333495-89333495 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3445G>A (p.Ala1149Thr) SNV Uncertain significance 586360 rs879135314 15:89861809-89861809 15:89318578-89318578 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2111A>C (p.Lys704Thr) SNV Uncertain significance 586354 rs1049107490 15:89867092-89867092 15:89323861-89323861 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.487C>T (p.Pro163Ser) SNV Uncertain significance 586365 rs758454871 15:89876499-89876499 15:89333268-89333268 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.453G>A (p.Leu151=) SNV Uncertain significance 586364 rs779981823 15:89876533-89876533 15:89333302-89333302 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.38C>G (p.Thr13Ser) SNV Uncertain significance 586363 rs1199924512 15:89876948-89876948 15:89333717-89333717 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.431A>G (p.Gln144Arg) SNV Uncertain significance 587834 rs1056580076 15:89876555-89876555 15:89333324-89333324 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1736G>A (p.Arg579Gln) SNV Uncertain significance 588951 rs746406535 15:89868894-89868894 15:89325663-89325663 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3427G>A (p.Glu1143Lys) SNV Uncertain significance 578511 rs765123635 15:89861827-89861827 15:89318596-89318596 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2125C>G (p.Arg709Gly) SNV Uncertain significance 578996 rs867038717 15:89867078-89867078 15:89323847-89323847 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2069C>T (p.Thr690Met) SNV Uncertain significance 579888 rs201677865 15:89867339-89867339 15:89324108-89324108 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.388C>T (p.Leu130Phe) SNV Uncertain significance 582802 rs201261842 15:89876598-89876598 15:89333367-89333367 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3461A>T (p.Gln1154Leu) SNV Uncertain significance 575558 rs1567185010 15:89861793-89861793 15:89318562-89318562 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3279G>A (p.Met1093Ile) SNV Uncertain significance 580000 rs1238487198 15:89861975-89861975 15:89318744-89318744 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2963C>T (p.Ala988Val) SNV Uncertain significance 573656 rs1279049508 15:89864015-89864015 15:89320784-89320784 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1370G>A (p.Arg457Gln) SNV Uncertain significance 576988 rs372911506 15:89870461-89870461 15:89327230-89327230 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2596C>T (p.Arg866Trp) SNV Uncertain significance 502515 rs748777396 15:89864969-89864969 15:89321738-89321738 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1991G>A (p.Gly664Glu) SNV Uncertain significance 497733 rs773073959 15:89867417-89867417 15:89324186-89324186 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1648C>G (p.Gln550Glu) SNV Uncertain significance 499665 rs1227630175 15:89869907-89869907 15:89326676-89326676 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1637G>A (p.Arg546His) SNV Uncertain significance 500073 rs773418477 15:89869918-89869918 15:89326687-89326687 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3317T>C (p.Val1106Ala) SNV Uncertain significance 522129 rs1354582663 15:89861937-89861937 15:89318706-89318706 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NC_000015.9:g.(?_89868661)_(89873527_?)dup duplication Uncertain significance 528392 15:89868661-89873527 15:89325430-89330296 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_018193.3(FANCI):c.*297del deletion Uncertain significance 528384 rs1555452076 15:89859986-89859986 15:89316755-89316755 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2600C>G (p.Pro867Arg) SNV Uncertain significance 528382 rs780880601 15:89864490-89864490 15:89321259-89321259 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1887C>G (p.Asp629Glu) SNV Uncertain significance 528378 rs886051524 15:89868743-89868743 15:89325512-89325512 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1A>G (p.Met1Val) SNV Uncertain significance 528383 rs201786897 15:89876985-89876985 15:89333754-89333754 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3463A>G (p.Ile1155Val) SNV Uncertain significance 528379 rs749640920 15:89861791-89861791 15:89318560-89318560 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2939A>C (p.Glu980Ala) SNV Uncertain significance 528381 rs754202777 15:89864039-89864039 15:89320808-89320808 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2054G>A (p.Ser685Asn) SNV Uncertain significance 528380 rs775662032 15:89867354-89867354 15:89324123-89324123 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1157G>A (p.Arg386His) SNV Uncertain significance 528386 rs1394411503 15:89871929-89871929 15:89328698-89328698 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1615_1623del (p.Phe539_Gln541del) deletion Uncertain significance 548594 rs754586219 15:89869932-89869940 15:89326701-89326709 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1669G>C (p.Glu557Gln) SNV Uncertain significance 571598 rs1481695998 15:89869886-89869886 15:89326655-89326655 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_001126131.2(POLG):c.134_137delinsG (p.Gln45_Gln46delinsArg) indel Uncertain significance 580549 rs1567194455 15:89876849-89876852 15:89333618-89333621 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3712G>C (p.Gly1238Arg) SNV Uncertain significance 576761 rs1024234712 15:89859990-89859990 15:89316759-89316759 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3360T>G (p.Phe1120Leu) SNV Uncertain significance 571681 rs573272388 15:89861894-89861894 15:89318663-89318663 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3316G>T (p.Val1106Phe) SNV Uncertain significance 576179 rs1567185212 15:89861938-89861938 15:89318707-89318707 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3006G>C (p.Glu1002Asp) SNV Uncertain significance 570708 rs990343459 15:89862557-89862557 15:89319326-89319326 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2424C>G (p.Ile808Met) SNV Uncertain significance 582217 rs1567187747 15:89865975-89865975 15:89322744-89322744 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2354G>A (p.Gly785Asp) SNV Uncertain significance 574386 rs149058889 15:89866045-89866045 15:89322814-89322814 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2654C>T (p.Thr885Ile) SNV Uncertain significance 619329 rs1224799376 15:89864436-89864436 15:89321205-89321205 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2224G>A (p.Val742Met) SNV Uncertain significance 619323 rs147827654 15:89866676-89866676 15:89323445-89323445 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2483A>G (p.His828Arg) SNV Uncertain significance 619417 rs533807211 15:89865082-89865082 15:89321851-89321851 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_001126131.2(POLG):c.2437_2439GTG[1] (p.Val814del) short repeat Uncertain significance 619327 15:89865231-89865233 15:89322000-89322002 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1849C>T (p.Arg617Cys) SNV Uncertain significance 619390 rs144374017 15:89868781-89868781 15:89325550-89325550 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2020G>A (p.Gly674Ser) SNV Uncertain significance 619413 rs538978071 15:89867388-89867388 15:89324157-89324157 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2126G>A (p.Arg709Gln) SNV Uncertain significance 619322 rs1015705626 15:89867077-89867077 15:89323846-89323846 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_001126131.2(POLG):c.2074_2076GAA[1] (p.Glu693del) short repeat Uncertain significance 619415 15:89867124-89867126 15:89323893-89323895 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2045C>G (p.Thr682Ser) SNV Uncertain significance 619414 rs1328436909 15:89867363-89867363 15:89324132-89324132 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1452G>C (p.Trp484Cys) SNV Uncertain significance 619315 rs774879097 15:89870276-89870276 15:89327045-89327045 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1684C>T (p.Arg562Trp) SNV Uncertain significance 619389 rs756952607 15:89869871-89869871 15:89326640-89326640 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1640C>A (p.Ala547Asp) SNV Uncertain significance 619319 rs1567190832 15:89869915-89869915 15:89326684-89326684 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1639G>T (p.Ala547Ser) SNV Uncertain significance 619318 rs779353857 15:89869916-89869916 15:89326685-89326685 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3170T>C (p.Met1057Thr) SNV Uncertain significance 619335 rs966144250 15:89862265-89862265 15:89319034-89319034 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3025A>T (p.Asn1009Tyr) SNV Uncertain significance 619333 rs1567185808 15:89862538-89862538 15:89319307-89319307 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2998G>A (p.Glu1000Lys) SNV Uncertain significance 619429 rs1412887168 15:89862565-89862565 15:89319334-89319334 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2984A>G (p.Tyr995Cys) SNV Uncertain significance 619428 rs749458217 15:89862579-89862579 15:89319348-89319348 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2791C>A (p.Leu931Ile) SNV Uncertain significance 619424 rs1567186644 15:89864187-89864187 15:89320956-89320956 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2845_2847del (p.Phe949del) deletion Uncertain significance 619330 rs1567186596 15:89864131-89864133 15:89320900-89320902 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1672C>G (p.Leu558Val) SNV Uncertain significance 458691 rs1411219168 15:89869883-89869883 15:89326652-89326652 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3584T>G (p.Met1195Arg) SNV Uncertain significance 619341 rs758720361 15:89860666-89860666 15:89317435-89317435 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3306G>C (p.Gln1102His) SNV Uncertain significance 619435 rs1336274767 15:89861948-89861948 15:89318717-89318717 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3298G>A (p.Val1100Met) SNV Uncertain significance 619434 rs1567185242 15:89861956-89861956 15:89318725-89318725 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3293A>T (p.Asn1098Ile) SNV Uncertain significance 619433 rs587780421 15:89861961-89861961 15:89318730-89318730 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3266A>G (p.Gln1089Arg) SNV Uncertain significance 619431 rs369716454 15:89862169-89862169 15:89318938-89318938 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3235A>C (p.Ile1079Leu) SNV Uncertain significance 619337 rs756393846 15:89862200-89862200 15:89318969-89318969 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.70C>T (p.Arg24Cys) SNV Uncertain significance 619444 rs1196273210 15:89876916-89876916 15:89333685-89333685 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.347C>G (p.Pro116Arg) SNV Uncertain significance 619438 rs747828222 15:89876639-89876639 15:89333408-89333408 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.191C>G (p.Ser64Trp) SNV Uncertain significance 619412 rs1397887879 15:89876795-89876795 15:89333564-89333564 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.159A>T (p.Gln53His) SNV Uncertain significance 619317 rs587781118 15:89876827-89876827 15:89333596-89333596 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.158A>C (p.Gln53Pro) SNV Uncertain significance 619316 rs527965158 15:89876828-89876828 15:89333597-89333597 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.824G>A (p.Arg275Gln) SNV Uncertain significance 619447 rs1555453950 15:89873343-89873343 15:89330112-89330112 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.635C>T (p.Ala212Val) SNV Uncertain significance 619443 rs751130039 15:89876351-89876351 15:89333120-89333120 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.611C>G (p.Ala204Gly) SNV Uncertain significance 619442 rs1015074661 15:89876375-89876375 15:89333144-89333144 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.538C>T (p.Pro180Ser) SNV Uncertain significance 619441 rs1567193954 15:89876448-89876448 15:89333217-89333217 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1084C>G (p.Leu362Val) SNV Uncertain significance 619404 rs763248358 15:89872002-89872002 15:89328771-89328771 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1186T>C (p.Cys396Arg) SNV Uncertain significance 619405 rs1567191994 15:89871751-89871751 15:89328520-89328520 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1327C>T (p.Arg443Cys) SNV Uncertain significance 619408 rs747485523 15:89870504-89870504 15:89327273-89327273 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2426+10C>G SNV Uncertain significance 619326 rs1567187739 15:89865963-89865963 15:89322732-89322732 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.3637C>T (p.Pro1213Ser) SNV Uncertain significance 870409 15:89860613-89860613 15:89317382-89317382 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NC_000015.10:g.(?_89316731)_(89316847_?)del deletion Uncertain significance 831259 15:89859962-89860078 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.3268G>A (p.Glu1090Lys) SNV Uncertain significance 841766 15:89862167-89862167 15:89318936-89318936 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.3121T>C (p.Trp1041Arg) SNV Uncertain significance 855696 15:89862314-89862314 15:89319083-89319083 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.3068A>G (p.Gln1023Arg) SNV Uncertain significance 859856 15:89862495-89862495 15:89319264-89319264 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.3004G>A (p.Glu1002Lys) SNV Uncertain significance 860426 15:89862559-89862559 15:89319328-89319328 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.2993C>T (p.Ser998Leu) SNV Uncertain significance 857083 15:89862570-89862570 15:89319339-89319339 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.2959G>A (p.Ala987Thr) SNV Uncertain significance 857548 15:89864019-89864019 15:89320788-89320788 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.2948A>T (p.Gln983Leu) SNV Uncertain significance 839030 15:89864030-89864030 15:89320799-89320799 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.2533G>T (p.Val845Leu) SNV Uncertain significance 844624 15:89865032-89865032 15:89321801-89321801 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.2483A>T (p.His828Leu) SNV Uncertain significance 843452 15:89865082-89865082 15:89321851-89321851 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.2201A>G (p.His734Arg) SNV Uncertain significance 845486 15:89866699-89866699 15:89323468-89323468 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.2157G>A (p.Leu719=) SNV Uncertain significance 847692 15:89867046-89867046 15:89323815-89323815 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.2140G>A (p.Gly714Ser) SNV Uncertain significance 851356 15:89867063-89867063 15:89323832-89323832 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.1603G>A (p.Glu535Lys) SNV Uncertain significance 852543 15:89869952-89869952 15:89326721-89326721 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.1239_1241CTT[1] (p.Phe414del) short repeat Uncertain significance 846630 15:89871693-89871695 15:89328462-89328464 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.1150G>C (p.Asp384His) SNV Uncertain significance 839102 15:89871936-89871936 15:89328705-89328705 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.1121G>A (p.Arg374Gln) SNV Uncertain significance 834606 15:89871965-89871965 15:89328734-89328734 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.1066C>G (p.Leu356Val) SNV Uncertain significance 842148 15:89872020-89872020 15:89328789-89328789 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.1054A>G (p.Ser352Gly) SNV Uncertain significance 837430 15:89872032-89872032 15:89328801-89328801 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.1022C>T (p.Ala341Val) SNV Uncertain significance 842332 15:89872175-89872175 15:89328944-89328944 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.867G>A (p.Met289Ile) SNV Uncertain significance 858336 15:89872330-89872330 15:89329099-89329099 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.730C>G (p.Leu244Val) SNV Uncertain significance 861889 15:89873437-89873437 15:89330206-89330206 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.614A>G (p.Glu205Gly) SNV Uncertain significance 846129 15:89876372-89876372 15:89333141-89333141 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.119_121GGC[5] (p.Arg41_Arg42dup) short repeat Uncertain significance 852621 15:89876858-89876859 15:89333627-89333628 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.37A>G (p.Thr13Ala) SNV Uncertain significance 845199 15:89876949-89876949 15:89333718-89333718 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.2480+9T>A SNV Uncertain significance 862506 15:89865184-89865184 15:89321953-89321953 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1235C>T (p.Pro412Leu) SNV Uncertain significance 129988 rs587780420 15:89871702-89871702 15:89328471-89328471 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_001126131.2(POLG):c.1491G>C (p.Gln497His) SNV Uncertain significance 13510 rs121918052 15:89870237-89870237 15:89327006-89327006 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2557C>T (p.Arg853Trp) SNV Uncertain significance 13512 rs121918053 15:89865008-89865008 15:89321777-89321777 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3424C>T (p.Arg1142Trp) SNV Uncertain significance 21311 rs2307442 15:89861830-89861830 15:89318599-89318599 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2240G>A (p.Cys747Tyr) SNV Uncertain significance 647149 15:89866660-89866660 15:89323429-89323429 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2167G>A (p.Gly723Ser) SNV Uncertain significance 660089 15:89866733-89866733 15:89323502-89323502 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1958A>T (p.Glu653Val) SNV Uncertain significance 655061 15:89867450-89867450 15:89324219-89324219 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1652A>G (p.Lys551Arg) SNV Uncertain significance 657514 15:89869903-89869903 15:89326672-89326672 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1607A>G (p.Glu536Gly) SNV Uncertain significance 655946 15:89869948-89869948 15:89326717-89326717 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1552G>A (p.Ala518Thr) SNV Uncertain significance 641933 15:89870176-89870176 15:89326945-89326945 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1280T>C (p.Met427Thr) SNV Uncertain significance 648910 15:89870551-89870551 15:89327320-89327320 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2924A>G (p.Gln975Arg) SNV Uncertain significance 643054 15:89864054-89864054 15:89320823-89320823 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2654C>G (p.Thr885Ser) SNV Uncertain significance 644248 15:89864436-89864436 15:89321205-89321205 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1713-4G>A SNV Uncertain significance 619320 rs201857960 15:89868921-89868921 15:89325690-89325690 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2466C>G (p.Pro822=) SNV Uncertain significance 625997 rs1235161601 15:89865207-89865207 15:89321976-89321976 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3631G>A (p.Gly1211Arg) SNV Uncertain significance 655490 15:89860619-89860619 15:89317388-89317388 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3524A>C (p.Gln1175Pro) SNV Uncertain significance 640666 15:89860726-89860726 15:89317495-89317495 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1100C>T (p.Pro367Leu) SNV Uncertain significance 659431 15:89871986-89871986 15:89328755-89328755 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.989A>G (p.Gln330Arg) SNV Uncertain significance 657612 15:89872208-89872208 15:89328977-89328977 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.883A>G (p.Met295Val) SNV Uncertain significance 646794 15:89872314-89872314 15:89329083-89329083 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.869G>A (p.Arg290His) SNV Uncertain significance 648222 15:89872328-89872328 15:89329097-89329097 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.814T>A (p.Ser272Thr) SNV Uncertain significance 658758 15:89873353-89873353 15:89330122-89330122 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.773A>G (p.Gln258Arg) SNV Uncertain significance 649843 15:89873394-89873394 15:89330163-89330163 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2157+6C>T SNV Uncertain significance 658769 15:89867040-89867040 15:89323809-89323809 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.855+4A>G SNV Uncertain significance 639971 15:89873308-89873308 15:89330077-89330077 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.282G>A (p.Met94Ile) SNV Uncertain significance 656523 15:89876704-89876704 15:89333473-89333473 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.159delinsGCAACAGCAGCCT (p.Pro56_Gln57insGlnProGlnGln) indel Uncertain significance 648340 15:89876827-89876827 15:89333596-89333596 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2510A>G (p.Tyr837Cys) SNV Uncertain significance 218615 rs778190998 15:89865055-89865055 15:89321824-89321824 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.418C>T (p.Arg140Cys) SNV Uncertain significance 206621 rs761248036 15:89876568-89876568 15:89333337-89333337 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.460G>A (p.Ala154Thr) SNV Uncertain significance 206578 rs753858440 15:89876526-89876526 15:89333295-89333295 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.833T>C (p.Ile278Thr) SNV Uncertain significance 206566 rs779502496 15:89873334-89873334 15:89330103-89330103 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.862C>T (p.Arg288Cys) SNV Uncertain significance 206586 rs564582352 15:89872335-89872335 15:89329104-89329104 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2830G>A (p.Glu944Lys) SNV Uncertain significance 206535 rs768653086 15:89864148-89864148 15:89320917-89320917 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2145A>T (p.Gln715His) SNV Uncertain significance 206511 rs796052882 15:89867058-89867058 15:89323827-89323827 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2529A>G (p.Gln843=) SNV Uncertain significance 206527 rs369395629 15:89865036-89865036 15:89321805-89321805 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2467C>T (p.Arg823Cys) SNV Uncertain significance 206524 rs757835879 15:89865206-89865206 15:89321975-89321975 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2195A>G (p.Tyr732Cys) SNV Uncertain significance 206515 rs760305786 15:89866705-89866705 15:89323474-89323474 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2177A>G (p.Lys726Arg) SNV Uncertain significance 206514 rs774599342 15:89866723-89866723 15:89323492-89323492 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2165G>T (p.Arg722Leu) SNV Uncertain significance 206513 rs185645212 15:89866735-89866735 15:89323504-89323504 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2085T>G (p.Asp695Glu) SNV Uncertain significance 206509 rs776848222 15:89867118-89867118 15:89323887-89323887 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2059A>G (p.Ile687Val) SNV Uncertain significance 206508 rs796052881 15:89867349-89867349 15:89324118-89324118 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2215T>C (p.Tyr739His) SNV Uncertain significance 206518 rs796052885 15:89866685-89866685 15:89323454-89323454 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1328G>A (p.Arg443His) SNV Uncertain significance 206593 rs796052903 15:89870503-89870503 15:89327272-89327272 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1385C>T (p.Ser462Leu) SNV Uncertain significance 206595 rs762878459 15:89870446-89870446 15:89327215-89327215 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1369C>T (p.Arg457Trp) SNV Uncertain significance 206594 rs766242100 15:89870462-89870462 15:89327231-89327231 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1250+5G>T SNV Uncertain significance 206590 rs751221993 15:89871682-89871682 15:89328451-89328451 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1570C>G (p.Pro524Ala) SNV Uncertain significance 206631 rs577476988 15:89870158-89870158 15:89326927-89326927 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1493A>C (p.Lys498Thr) SNV Uncertain significance 206597 rs769637557 15:89870235-89870235 15:89327004-89327004 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1403A>G (p.Asn468Ser) SNV Uncertain significance 206630 rs368614463 15:89870428-89870428 15:89327197-89327197 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2026G>A (p.Ala676Thr) SNV Uncertain significance 206506 rs752293938 15:89867382-89867382 15:89324151-89324151 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2369G>A (p.Arg790His) SNV Uncertain significance 194376 rs191490663 15:89866030-89866030 15:89322799-89322799 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3098C>T (p.Ala1033Val) SNV Uncertain significance 206470 rs551708243 15:89862465-89862465 15:89319234-89319234 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2987G>A (p.Arg996Gln) SNV Uncertain significance 206544 rs770236576 15:89862576-89862576 15:89319345-89319345 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2986C>T (p.Arg996Trp) SNV Uncertain significance 206543 rs202229893 15:89862577-89862577 15:89319346-89319346 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3077G>A (p.Arg1026His) SNV Uncertain significance 206612 rs777038915 15:89862486-89862486 15:89319255-89319255 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3076C>T (p.Arg1026Cys) SNV Uncertain significance 206546 rs760043525 15:89862487-89862487 15:89319256-89319256 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3017G>A (p.Arg1006Lys) SNV Uncertain significance 206469 rs142732551 15:89862546-89862546 15:89319315-89319315 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2915G>A (p.Arg972Gln) SNV Uncertain significance 206540 rs200309005 15:89864063-89864063 15:89320832-89320832 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2914C>T (p.Arg972Trp) SNV Uncertain significance 206539 rs762972003 15:89864064-89864064 15:89320833-89320833 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3131T>C (p.Val1044Ala) SNV Uncertain significance 129994 rs150233690 15:89862304-89862304 15:89319073-89319073 MTC056 Mitochondrial Dna Depletion Syndrome 4a FANCI NM_002693.2(POLG):c.3650C>T (p.Ala1217Val) SNV Uncertain significance 206575 rs199751339 15:89860052-89860052 15:89316821-89316821 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3650C>T (p.Ala1217Val) SNV Uncertain significance 206575 rs199751339 15:89860052-89860052 15:89316821-89316821 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3215C>G (p.Thr1072Ser) SNV Uncertain significance 206552 rs530757118 15:89862220-89862220 15:89318989-89318989 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3176A>T (p.Asn1059Ile) SNV Uncertain significance 206549 rs201192905 15:89862259-89862259 15:89319028-89319028 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3173T>C (p.Phe1058Ser) SNV Uncertain significance 206613 rs796052911 15:89862262-89862262 15:89319031-89319031 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3176A>G (p.Asn1059Ser) SNV Uncertain significance 195487 rs201192905 15:89862259-89862259 15:89319028-89319028 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3425G>A (p.Arg1142Gln) SNV Uncertain significance 195591 rs536732038 15:89861829-89861829 15:89318598-89318598 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3505G>A (p.Gly1169Ser) SNV Uncertain significance 206568 rs753864625 15:89860745-89860745 15:89317514-89317514 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3443G>A (p.Arg1148His) SNV Uncertain significance 206564 rs145004638 15:89861811-89861811 15:89318580-89318580 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3346A>G (p.Met1116Val) SNV Uncertain significance 206561 rs201144044 15:89861908-89861908 15:89318677-89318677 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3323A>T (p.Tyr1108Phe) SNV Uncertain significance 206475 rs765949668 15:89861931-89861931 15:89318700-89318700 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.134A>G (p.Gln45Arg) SNV Likely benign 195179 rs201016638 15:89876852-89876852 15:89333621-89333621 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1149G>A (p.Lys383=) SNV Likely benign 258789 rs767256165 15:89871937-89871937 15:89328706-89328706 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_001113378.2(FANCI):c.*376_*379dup duplication Likely benign 696413 15:89860063-89860064 15:89316832-89316833 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.484C>T (p.Leu162=) SNV Likely benign 699929 15:89876502-89876502 15:89333271-89333271 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.945C>A (p.Ala315=) SNV Likely benign 763038 15:89872252-89872252 15:89329021-89329021 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.159_167dup (p.55_57QPQ[3]) duplication Likely benign 753869 15:89876818-89876819 15:89333587-89333588 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.132G>A (p.Gln44=) SNV Likely benign 756143 15:89876854-89876854 15:89333623-89333623 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.660-9C>T SNV Likely benign 762328 15:89873516-89873516 15:89330285-89330285 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.297G>A (p.Ala99=) SNV Likely benign 797920 15:89876689-89876689 15:89333458-89333458 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1950-16A>C SNV Likely benign 619360 rs1310096810 15:89867474-89867474 15:89324243-89324243 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2071-43C>T SNV Likely benign 619462 rs753372873 15:89867175-89867175 15:89323944-89323944 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2071-48G>T SNV Likely benign 619463 rs1293230481 15:89867180-89867180 15:89323949-89323949 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2070+27T>C SNV Likely benign 619460 rs1259690556 15:89867311-89867311 15:89324080-89324080 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2982-16A>G SNV Likely benign 619473 rs1567185886 15:89862597-89862597 15:89319366-89319366 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2426+17G>A SNV Likely benign 619470 rs572105844 15:89865956-89865956 15:89322725-89322725 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1586-21T>G SNV Likely benign 619458 rs908825194 15:89869990-89869990 15:89326759-89326759 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1586-33_1586-31del deletion Likely benign 619459 rs1567190938 15:89870000-89870002 15:89326769-89326771 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1585+22TAGGG[4] short repeat Likely benign 619457 rs777442304 15:89870106-89870107 15:89326875-89326876 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1585+18G>A SNV Likely benign 619456 rs1371422250 15:89870125-89870125 15:89326894-89326894 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1434-27C>T SNV Likely benign 619453 rs139086616 15:89870321-89870321 15:89327090-89327090 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1434-32C>G SNV Likely benign 619454 rs954111058 15:89870326-89870326 15:89327095-89327095 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1434-45C>T SNV Likely benign 619455 rs190262367 15:89870339-89870339 15:89327108-89327108 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1251-23del deletion Likely benign 619356 rs541579481 15:89870603-89870603 15:89327372-89327372 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1251-38G>C SNV Likely benign 619357 rs1567191551 15:89870618-89870618 15:89327387-89327387 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1250+37G>T SNV Likely benign 619355 rs372614123 15:89871650-89871650 15:89328419-89328419 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1250+27_1250+28del short repeat Likely benign 619354 rs776623760 15:89871659-89871660 15:89328428-89328429 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1250+12C>T SNV Likely benign 619353 rs985160740 15:89871675-89871675 15:89328444-89328444 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1171-18C>G SNV Likely benign 619349 rs1567192015 15:89871784-89871784 15:89328553-89328553 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1171-24C>T SNV Likely benign 619350 rs369293614 15:89871790-89871790 15:89328559-89328559 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1171-30A>G SNV Likely benign 619351 rs761504232 15:89871796-89871796 15:89328565-89328565 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1171-37G>T SNV Likely benign 619352 rs1426619872 15:89871803-89871803 15:89328572-89328572 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1170+9C>T SNV Likely benign 619348 rs373168754 15:89871907-89871907 15:89328676-89328676 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1024-24A>G SNV Likely benign 619345 rs1567192219 15:89872086-89872086 15:89328855-89328855 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1950-32_1950-30del deletion Likely benign 619361 rs1567188748 15:89867488-89867490 15:89324257-89324259 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1949+44C>A SNV Likely benign 619359 rs762378430 15:89868637-89868637 15:89325406-89325406 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1949+14C>T SNV Likely benign 619383 rs754016118 15:89868667-89868667 15:89325436-89325436 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1024-44C>T SNV Likely benign 619346 rs370557654 15:89872106-89872106 15:89328875-89328875 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1023+17G>C SNV Likely benign 619451 rs778750911 15:89872157-89872157 15:89328926-89328926 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1023+10C>T SNV Likely benign 619450 rs777477062 15:89872164-89872164 15:89328933-89328933 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.855+19A>G SNV Likely benign 619487 rs888039212 15:89873293-89873293 15:89330062-89330062 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.855+16C>A SNV Likely benign 619486 rs1567192747 15:89873296-89873296 15:89330065-89330065 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.660-29T>C SNV Likely benign 619484 rs374159057 15:89873536-89873536 15:89330305-89330305 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1056T>C (p.Ser352=) SNV Likely benign 619347 rs1567192184 15:89872030-89872030 15:89328799-89328799 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.975C>G (p.Pro325=) SNV Likely benign 619488 rs551973680 15:89872222-89872222 15:89328991-89328991 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.528C>T (p.Thr176=) SNV Likely benign 619380 rs750915606 15:89876458-89876458 15:89333227-89333227 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.516G>A (p.Ala172=) SNV Likely benign 619379 rs1028326668 15:89876470-89876470 15:89333239-89333239 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.799G>C (p.Val267Leu) SNV Likely benign 619445 rs1567192788 15:89873368-89873368 15:89330137-89330137 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.753T>A (p.Thr251=) SNV Likely benign 619485 rs148099686 15:89873414-89873414 15:89330183-89330183 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.210G>T (p.Arg70=) SNV Likely benign 619464 rs751225754 15:89876776-89876776 15:89333545-89333545 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.60A>C (p.Pro20=) SNV Likely benign 619483 rs944054671 15:89876926-89876926 15:89333695-89333695 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.31G>A (p.Gly11Ser) SNV Likely benign 619334 rs764055826 15:89876955-89876955 15:89333724-89333724 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3643+25A>G SNV Likely benign 619495 rs74842339 15:89860582-89860582 15:89317351-89317351 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_001126131.2(POLG):c.133_134insGGC (p.Gln45_Gln46insArg) insertion Likely benign 619409 rs1567194472 15:89876852-89876853 15:89333621-89333622 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.82A>T (p.Ser28Cys) SNV Likely benign 619446 rs1567194544 15:89876904-89876904 15:89333673-89333673 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3105-19T>C SNV Likely benign 619479 rs755986798 15:89862349-89862349 15:89319118-89319118 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3105-22C>T SNV Likely benign 619480 rs199809987 15:89862352-89862352 15:89319121-89319121 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3483-14T>A SNV Likely benign 619378 rs587781119 15:89860781-89860781 15:89317550-89317550 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3274-47G>A SNV Likely benign 619376 rs1567185324 15:89862027-89862027 15:89318796-89318796 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3273+34G>A SNV Likely benign 619375 rs1567185382 15:89862128-89862128 15:89318897-89318897 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3273+28A>C SNV Likely benign 619374 rs371425871 15:89862134-89862134 15:89318903-89318903 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3104+64A>G SNV Likely benign 619392 rs1567185722 15:89862395-89862395 15:89319164-89319164 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3104+50C>T SNV Likely benign 619478 rs370764907 15:89862409-89862409 15:89319178-89319178 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3104+32G>A SNV Likely benign 619477 rs200269242 15:89862427-89862427 15:89319196-89319196 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3104+27G>A SNV Likely benign 619476 rs373628823 15:89862432-89862432 15:89319201-89319201 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3104+24G>C SNV Likely benign 619475 rs201483942 15:89862435-89862435 15:89319204-89319204 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2982-31C>T SNV Likely benign 619387 rs2307432 15:89862612-89862612 15:89319381-89319381 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2982-50G>A SNV Likely benign 619474 rs752500882 15:89862631-89862631 15:89319400-89319400 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2735-42A>G SNV Likely benign 619373 rs1258121070 15:89864285-89864285 15:89321054-89321054 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2266-44G>T SNV Likely benign 619467 rs1335068171 15:89866177-89866177 15:89322946-89322946 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2266-48del deletion Likely benign 619468 rs766283304 15:89866181-89866181 15:89322950-89322950 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2266-76T>C SNV Likely benign 619391 rs3176203 15:89866209-89866209 15:89322978-89322978 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2265+15A>G SNV Likely benign 619466 rs747993559 15:89866620-89866620 15:89323389-89323389 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2158-17G>T SNV Likely benign 619465 rs1567188293 15:89866759-89866759 15:89323528-89323528 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2157+10G>T SNV Likely benign 619497 rs751357356 15:89867036-89867036 15:89323805-89323805 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2071-4C>T SNV Likely benign 619461 rs1567188491 15:89867136-89867136 15:89323905-89323905 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2427-16T>C SNV Likely benign 619364 rs769407407 15:89865262-89865262 15:89322031-89322031 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2427-20C>T SNV Likely benign 619365 rs1567187412 15:89865266-89865266 15:89322035-89322035 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2599-24T>C SNV Likely benign 619370 rs368659678 15:89864515-89864515 15:89321284-89321284 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2599-40G>T SNV Likely benign 619371 rs55792683 15:89864531-89864531 15:89321300-89321300 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2598+28T>A SNV Likely benign 619369 rs1020120703 15:89864939-89864939 15:89321708-89321708 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2481-26C>T SNV Likely benign 619366 rs112776049 15:89865110-89865110 15:89321879-89321879 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2481-44A>T SNV Likely benign 619367 rs370712401 15:89865128-89865128 15:89321897-89321897 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3390C>T (p.Cys1130=) SNV Likely benign 619437 rs1567185105 15:89861864-89861864 15:89318633-89318633 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3610A>T (p.Thr1204Ser) SNV Likely benign 619342 rs761103159 15:89860640-89860640 15:89317409-89317409 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3472C>A (p.Leu1158Ile) SNV Likely benign 619439 rs1278715599 15:89861782-89861782 15:89318551-89318551 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3456C>G (p.Ala1152=) SNV Likely benign 619377 rs1567185018 15:89861798-89861798 15:89318567-89318567 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3126G>A (p.Glu1042=) SNV Likely benign 619481 rs766485086 15:89862309-89862309 15:89319078-89319078 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2896C>T (p.Leu966=) SNV Likely benign 619472 rs1187151579 15:89864082-89864082 15:89320851-89320851 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2874G>T (p.Gly958=) SNV Likely benign 619471 rs1567186563 15:89864104-89864104 15:89320873-89320873 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3228C>G (p.Gly1076=) SNV Likely benign 619482 rs777893046 15:89862207-89862207 15:89318976-89318976 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1371G>C (p.Arg457=) SNV Likely benign 619452 rs1567191387 15:89870460-89870460 15:89327229-89327229 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1797A>T (p.Thr599=) SNV Likely benign 619358 rs775651351 15:89868833-89868833 15:89325602-89325602 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2409C>T (p.Asn803=) SNV Likely benign 619469 rs1236942179 15:89865990-89865990 15:89322759-89322759 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2526C>T (p.Pro842=) SNV Likely benign 619368 rs758903771 15:89865039-89865039 15:89321808-89321808 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2688G>A (p.Leu896=) SNV Likely benign 619372 rs769306875 15:89864402-89864402 15:89321171-89321171 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2038C>T (p.Leu680=) SNV Likely benign 509049 rs373066911 15:89867370-89867370 15:89324139-89324139 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1965G>A (p.Leu655=) SNV Likely benign 517996 rs543910258 15:89867443-89867443 15:89324212-89324212 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1830C>T (p.Phe610=) SNV Likely benign 528391 rs771566653 15:89868800-89868800 15:89325569-89325569 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.158_166dup (p.Gln53_Gln55dup) duplication Likely benign 528385 rs769735492 15:89876819-89876820 15:89333588-89333589 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.143_166dup (p.Gln48_Gln55dup) duplication Likely benign 528387 rs1555454325 15:89876819-89876820 15:89333588-89333589 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1867T>C (p.Leu623=) SNV Likely benign 516490 rs548491099 15:89868763-89868763 15:89325532-89325532 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3640C>G (p.Gln1214Glu) SNV Likely benign 619344 rs781256643 15:89860610-89860610 15:89317379-89317379 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1596C>T (p.Pro532=) SNV Likely benign 448100 rs199856571 15:89869959-89869959 15:89326728-89326728 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.30C>T (p.Ala10=) SNV Likely benign 413484 rs1060504037 15:89876956-89876956 15:89333725-89333725 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.333G>T (p.Gly111=) SNV Likely benign 413487 rs56221189 15:89876653-89876653 15:89333422-89333422 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1586-10A>G SNV Likely benign 413486 rs1060504038 15:89869979-89869979 15:89326748-89326748 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.159_164dup (p.Gln54_Gln55dup) duplication Likely benign 419760 rs760135553 15:89876821-89876822 15:89333590-89333591 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1962C>T (p.Ser654=) SNV Likely benign 458700 rs1555453192 15:89867446-89867446 15:89324215-89324215 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2508C>T (p.Leu836=) SNV Likely benign 458706 rs183811122 15:89865057-89865057 15:89321826-89321826 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1590C>T (p.Leu530=) SNV Likely benign 458689 rs141422952 15:89869965-89869965 15:89326734-89326734 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1872G>A (p.Val624=) SNV Likely benign 458697 rs765506021 15:89868758-89868758 15:89325527-89325527 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1752A>G (p.Ala584=) SNV Likely benign 458696 rs150929445 15:89868878-89868878 15:89325647-89325647 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.29C>T (p.Ala10Val) SNV Likely benign 458708 rs774459114 15:89876957-89876957 15:89333726-89333726 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.15C>G (p.Leu5=) SNV Likely benign 458690 rs892999189 15:89876971-89876971 15:89333740-89333740 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3597C>T (p.Thr1199=) SNV Likely benign 458717 rs2307443 15:89860653-89860653 15:89317422-89317422 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1638C>T (p.Arg546=) SNV Likely benign 378410 rs772461291 15:89869917-89869917 15:89326686-89326686 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.384G>T (p.Pro128=) SNV Likely benign 381383 rs558958919 15:89876602-89876602 15:89333371-89333371 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2118G>A (p.Glu706=) SNV Likely benign 381338 rs748699275 15:89867085-89867085 15:89323854-89323854 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1752A>C (p.Ala584=) SNV Likely benign 381080 rs150929445 15:89868878-89868878 15:89325647-89325647 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3282C>G (p.Thr1094=) SNV Likely benign 391063 rs773093823 15:89861972-89861972 15:89318741-89318741 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2814T>C (p.Thr938=) SNV Likely benign 378414 rs771822843 15:89864164-89864164 15:89320933-89320933 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1002G>A (p.Arg334=) SNV Likely benign 381064 rs1057520944 15:89872195-89872195 15:89328964-89328964 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1586-5C>T SNV Likely benign 379064 rs747270023 15:89869974-89869974 15:89326743-89326743 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.126_128GCA[5] (p.Gln50_Gln55del) short repeat Likely benign 206478 rs41550117 15:89876828-89876845 15:89333597-89333614 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2994G>C (p.Ser998=) SNV Benign/Likely benign 287775 rs567030498 15:89862569-89862569 15:89319338-89319338 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3451C>T (p.Leu1151=) SNV Benign/Likely benign 378418 rs769193603 15:89861803-89861803 15:89318572-89318572 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3405C>T (p.Asp1135=) SNV Benign/Likely benign 391039 rs2307445 15:89861849-89861849 15:89318618-89318618 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.150G>A (p.Gln50=) SNV Benign/Likely benign 378909 rs766501874 15:89876836-89876836 15:89333605-89333605 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3643+180G>A SNV Benign/Likely benign 619393 rs3176238 15:89860427-89860427 15:89317196-89317196 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3643+48A>G SNV Benign/Likely benign 619496 rs2307454 15:89860559-89860559 15:89317328-89317328 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1251-43C>T SNV Benign/Likely benign 619490 rs2307444 15:89870623-89870623 15:89327392-89327392 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3482+44G>A SNV Benign/Likely benign 619493 rs3176228 15:89861728-89861728 15:89318497-89318497 MTC056 Mitochondrial Dna Depletion Syndrome 4a FANCI NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) SNV Benign/Likely benign 21312 rs2307441 15:89861826-89861826 15:89318595-89318595 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) SNV Benign/Likely benign 21312 rs2307441 15:89861826-89861826 15:89318595-89318595 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1636C>T (p.Arg546Cys) SNV Benign/Likely benign 21309 rs2307447 15:89869919-89869919 15:89326688-89326688 MTC056 Mitochondrial Dna Depletion Syndrome 4a FANCI NM_002693.2(POLG):c.3708G>T (p.Gln1236His) SNV Benign/Likely benign 21316 rs3087374 15:89859994-89859994 15:89316763-89316763 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3708G>T (p.Gln1236His) SNV Benign/Likely benign 21316 rs3087374 15:89859994-89859994 15:89316763-89316763 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2109C>A (p.Ala703=) SNV Benign/Likely benign 129990 rs2307429 15:89867094-89867094 15:89323863-89323863 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2254C>T (p.Leu752=) SNV Benign/Likely benign 129991 rs41564016 15:89866646-89866646 15:89323415-89323415 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.126_128GCA[13] (p.Gln54_Gln55dup) short repeat Benign/Likely benign 206484 rs41550117 15:89876827-89876828 15:89333596-89333597 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.150_158del short repeat Benign/Likely benign 206481 rs41550117 15:89876828-89876836 15:89333597-89333605 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.126_128GCA[14] (p.Gln53_Gln55dup) short repeat Benign/Likely benign 206482 rs41550117 15:89876827-89876828 15:89333596-89333597 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.126_128GCA[7] (p.Gln52_Gln55del) short repeat Benign/Likely benign 206480 rs41550117 15:89876828-89876839 15:89333597-89333608 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.144_158del short repeat Benign/Likely benign 206479 rs41550117 15:89876828-89876842 15:89333597-89333611 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1950-9T>C SNV Benign/Likely benign 206461 rs780378329 15:89867467-89867467 15:89324236-89324236 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1674C>G (p.Leu558=) SNV Benign/Likely benign 206501 rs552085869 15:89869881-89869881 15:89326650-89326650 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_001126131.2(POLG):c.126_128GCA[12] (p.Gln55dup) short repeat Benign/Likely benign 167522 rs41550117 15:89876827-89876828 15:89333596-89333597 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.153_158del short repeat Benign/Likely benign 167523 rs41550117 15:89876828-89876833 15:89333597-89333602 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1890C>T (p.Asn630=) SNV Benign/Likely benign 138780 rs148658588 15:89868740-89868740 15:89325509-89325509 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1949+20G>C SNV Benign/Likely benign 138781 rs371964664 15:89868661-89868661 15:89325430-89325430 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1712+10G>A SNV Benign/Likely benign 138777 rs55962804 15:89869833-89869833 15:89326602-89326602 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1713-5C>T SNV Benign/Likely benign 138778 rs148494026 15:89868922-89868922 15:89325691-89325691 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1126C>T (p.Leu376=) SNV Benign/Likely benign 138773 rs116165908 15:89871960-89871960 15:89328729-89328729 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.852C>T (p.Ile284=) SNV Benign/Likely benign 138770 rs41540414 15:89873315-89873315 15:89330084-89330084 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3597C>A (p.Thr1199=) SNV Benign/Likely benign 138766 rs2307443 15:89860653-89860653 15:89317422-89317422 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.159A>G (p.Gln53=) SNV Benign/Likely benign 138762 rs587781118 15:89876827-89876827 15:89333596-89333596 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3274-19G>A SNV Benign/Likely benign 138758 rs116925016 15:89861999-89861999 15:89318768-89318768 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3294T>C (p.Asn1098=) SNV Benign/Likely benign 138759 rs374224714 15:89861960-89861960 15:89318729-89318729 MTC056 Mitochondrial Dna Depletion Syndrome 4a FANCI NM_002693.2(POLG):c.3105-11T>C SNV Benign/Likely benign 138754 rs2302084 15:89862341-89862341 15:89319110-89319110 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3105-11T>C SNV Benign/Likely benign 138754 rs2302084 15:89862341-89862341 15:89319110-89319110 MTC056 Mitochondrial Dna Depletion Syndrome 4a FANCI NM_002693.2(POLG):c.2958C>T (p.Tyr986=) SNV Benign/Likely benign 129993 rs2307431 15:89864020-89864020 15:89320789-89320789 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2958C>T (p.Tyr986=) SNV Benign/Likely benign 129993 rs2307431 15:89864020-89864020 15:89320789-89320789 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3561G>C (p.Arg1187=) SNV Benign/Likely benign 129997 rs62640037 15:89860689-89860689 15:89317458-89317458 MTC056 Mitochondrial Dna Depletion Syndrome 4a FANCI NM_002693.2(POLG):c.3644-9A>G SNV Benign/Likely benign 129998 rs115048121 15:89860067-89860067 15:89316836-89316836 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3644-9A>G SNV Benign/Likely benign 129998 rs115048121 15:89860067-89860067 15:89316836-89316836 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.948G>A (p.Lys316=) SNV Benign/Likely benign 129999 rs61756401 15:89872249-89872249 15:89329018-89329018 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3483-19T>G SNV Benign 138763 rs2307438 15:89860786-89860786 15:89317555-89317555 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.126_128GCA[10] (p.Gln55del) short repeat Benign 167521 rs41550117 15:89876828-89876830 15:89333597-89333599 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1586-5del deletion Benign 199081 rs2307434 15:89869974-89869974 15:89326743-89326743 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3644-14G>C SNV Benign 206488 rs3087375 15:89860072-89860072 15:89316841-89316841 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.659+11G>T SNV Benign 206494 rs3087379 15:89876316-89876316 15:89333085-89333085 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.128A>G (p.Gln43Arg) SNV Benign 129989 rs28567406 15:89876858-89876858 15:89333627-89333627 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2735-15C>T SNV Benign 138751 rs41544115 15:89864258-89864258 15:89321027-89321027 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1984G>A (p.Glu662Lys) SNV Benign 21310 rs2307450 15:89867424-89867424 15:89324193-89324193 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2982-30G>A SNV Benign 619498 rs76339822 15:89862611-89862611 15:89319380-89319380 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1950-21C>T SNV Benign 619384 rs2307452 15:89867479-89867479 15:89324248-89324248 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.660-46G>A SNV Benign 619388 rs2307430 15:89873553-89873553 15:89330322-89330322 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1950-43A>G SNV Benign 619362 rs74596434 15:89867501-89867501 15:89324270-89324270 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1024-38C>T SNV Benign 619489 rs138069091 15:89872100-89872100 15:89328869-89328869 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1713-31G>A SNV Benign 619381 rs3176191 15:89868948-89868948 15:89325717-89325717 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.1713-32C>T SNV Benign 619382 rs3176190 15:89868949-89868949 15:89325718-89325718 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_001126131.2(POLG):c.126_128GCA[1] (p.Gln46_Gln55del) short repeat Benign 619491 15:89876828-89876857 15:89333597-89333626 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2426+27G>A SNV Benign 619363 rs72762657 15:89865946-89865946 15:89322715-89322715 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2071-22T>C SNV Benign 619385 rs2072267 15:89867154-89867154 15:89323923-89323923 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.2734+39_2734+40insAGGT insertion Benign 619386 rs2307433 15:89864316-89864317 15:89321085-89321086 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3483-41A>C SNV Benign 619494 rs2307436 15:89860808-89860808 15:89317577-89317577 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.3105-36A>G SNV Benign 619492 rs2246900 15:89862366-89862366 15:89319135-89319135 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.2(POLG):c.153G>A (p.Gln51=) SNV Benign 559176 rs1453538834 15:89876833-89876833 15:89333602-89333602 MTC056 Mitochondrial Dna Depletion Syndrome 4a POLG NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) SNV Pathogenic 13496 rs113994095 15:89870432-89870432 15:89327201-89327201 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_001126131.2(POLG):c.2542G>A (p.Gly848Ser) SNV Pathogenic 13502 rs113994098 15:89865023-89865023 15:89321792-89321792 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.2591A>G (p.Asn864Ser) SNV Pathogenic 13506 rs121918050 15:89864974-89864974 15:89321743-89321743 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.679C>T (p.Arg227Trp) SNV Pathogenic 13515 rs121918056 15:89873488-89873488 15:89330257-89330257 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_001126131.2(POLG):c.3218C>T (p.Pro1073Leu) SNV Pathogenic 13516 rs267606959 15:89862217-89862217 15:89318986-89318986 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.2740A>C (p.Thr914Pro) SNV Pathogenic 279961 rs139590686 15:89864238-89864238 15:89321007-89321007 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) SNV Pathogenic/Likely pathogenic 13513 rs121918054 15:89866691-89866691 15:89323460-89323460 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.3(POLG):c.3286C>T SNV Pathogenic/Likely pathogenic 206556 rs201732356 15:89861968-89861968 15:89318737-89318737 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.911T>G (p.Leu304Arg) SNV Pathogenic/Likely pathogenic 13497 rs121918044 15:89872286-89872286 15:89329055-89329055 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.3(POLG):c.3282del (p.Ser1095fs) deletion Likely pathogenic 813494 15:89861972-89861972 15:89318741-89318741 MTC055 Mitochondrial Dna Depletion Syndrome 4b EDAR NM_022336.4(EDAR):c.266G>A (p.Arg89His) SNV Likely pathogenic 5849 rs121908450 2:109545744-109545744 2:108929288-108929288 MTC055 Mitochondrial Dna Depletion Syndrome 4b EDAR NM_022336.4(EDAR):c.265C>T (p.Arg89Cys) SNV Likely pathogenic 562015 rs780424781 2:109545745-109545745 2:108929289-108929289 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.3667A>G (p.Ile1223Val) SNV Conflicting interpretations of pathogenicity 458718 rs148786642 15:89860035-89860035 15:89316804-89316804 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.1276G>A (p.Gly426Ser) SNV Conflicting interpretations of pathogenicity 458687 rs775576189 15:89870555-89870555 15:89327324-89327324 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.2027C>T (p.Ala676Val) SNV Conflicting interpretations of pathogenicity 451086 rs376306906 15:89867381-89867381 15:89324150-89324150 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) SNV Conflicting interpretations of pathogenicity 13505 rs113994096 15:89868870-89868870 15:89325639-89325639 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) SNV Conflicting interpretations of pathogenicity 13503 rs113994094 15:89873415-89873415 15:89330184-89330184 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) SNV Conflicting interpretations of pathogenicity 65665 rs61752783 15:89870178-89870178 15:89326947-89326947 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.803G>C (p.Gly268Ala) SNV Conflicting interpretations of pathogenicity 196354 rs61752784 15:89873364-89873364 15:89330133-89330133 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.1174C>G (p.Leu392Val) SNV Conflicting interpretations of pathogenicity 198151 rs145289229 15:89871763-89871763 15:89328532-89328532 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.2601T>C (p.Pro867=) SNV Conflicting interpretations of pathogenicity 138750 rs201749977 15:89864489-89864489 15:89321258-89321258 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.3482+6C>T SNV Conflicting interpretations of pathogenicity 138760 rs55779802 15:89861766-89861766 15:89318535-89318535 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.1837C>T (p.His613Tyr) SNV Conflicting interpretations of pathogenicity 193643 rs147407423 15:89868793-89868793 15:89325562-89325562 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.32G>A (p.Gly11Asp) SNV Conflicting interpretations of pathogenicity 195182 rs765472726 15:89876954-89876954 15:89333723-89333723 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.1156C>T (p.Arg386Cys) SNV Conflicting interpretations of pathogenicity 206589 rs199759055 15:89871930-89871930 15:89328699-89328699 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.3(POLG):c.830A>T (p.His277Leu) SNV Conflicting interpretations of pathogenicity 206583 rs138929605 15:89873337-89873337 15:89330106-89330106 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.328C>T (p.His110Tyr) SNV Conflicting interpretations of pathogenicity 206619 rs139599587 15:89876658-89876658 15:89333427-89333427 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.3075G>A (p.Leu1025=) SNV Conflicting interpretations of pathogenicity 239380 rs146404260 15:89862488-89862488 15:89319257-89319257 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_001126131.2(POLG):c.2890C>T (p.Arg964Cys) SNV Conflicting interpretations of pathogenicity 206537 rs201477273 15:89864088-89864088 15:89320857-89320857 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.2554C>T (p.Arg852Cys) SNV Conflicting interpretations of pathogenicity 206528 rs144500145 15:89865011-89865011 15:89321780-89321780 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.2207A>G (p.Asn736Ser) SNV Conflicting interpretations of pathogenicity 206516 rs138457939 15:89866693-89866693 15:89323462-89323462 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.2021G>A (p.Gly674Asp) SNV Conflicting interpretations of pathogenicity 206462 rs200257554 15:89867387-89867387 15:89324156-89324156 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) SNV Conflicting interpretations of pathogenicity 206596 rs145843073 15:89870429-89870429 15:89327198-89327198 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.1328G>A (p.Arg443His) SNV Uncertain significance 206593 rs796052903 15:89870503-89870503 15:89327272-89327272 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.1570C>G (p.Pro524Ala) SNV Uncertain significance 206631 rs577476988 15:89870158-89870158 15:89326927-89326927 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.2085T>G (p.Asp695Glu) SNV Uncertain significance 206509 rs776848222 15:89867118-89867118 15:89323887-89323887 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.2059A>G (p.Ile687Val) SNV Uncertain significance 206508 rs796052881 15:89867349-89867349 15:89324118-89324118 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.862C>T (p.Arg288Cys) SNV Uncertain significance 206586 rs564582352 15:89872335-89872335 15:89329104-89329104 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.3204C>G (p.Asp1068Glu) SNV Uncertain significance 388649 rs1057523186 15:89862231-89862231 15:89319000-89319000 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.2468G>A (p.Arg823His) SNV Uncertain significance 448102 rs751172552 15:89865205-89865205 15:89321974-89321974 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.3176A>G (p.Asn1059Ser) SNV Uncertain significance 195487 rs201192905 15:89862259-89862259 15:89319028-89319028 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.3425G>A (p.Arg1142Gln) SNV Uncertain significance 195591 rs536732038 15:89861829-89861829 15:89318598-89318598 MTC055 Mitochondrial Dna Depletion Syndrome 4b FANCI NM_002693.2(POLG):c.3650C>T (p.Ala1217Val) SNV Uncertain significance 206575 rs199751339 15:89860052-89860052 15:89316821-89316821 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.3650C>T (p.Ala1217Val) SNV Uncertain significance 206575 rs199751339 15:89860052-89860052 15:89316821-89316821 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.3505G>A (p.Gly1169Ser) SNV Uncertain significance 206568 rs753864625 15:89860745-89860745 15:89317514-89317514 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.3323A>T (p.Tyr1108Phe) SNV Uncertain significance 206475 rs765949668 15:89861931-89861931 15:89318700-89318700 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.3131T>C (p.Val1044Ala) SNV Uncertain significance 129994 rs150233690 15:89862304-89862304 15:89319073-89319073 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.3098C>T (p.Ala1033Val) SNV Uncertain significance 206470 rs551708243 15:89862465-89862465 15:89319234-89319234 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.3076C>T (p.Arg1026Cys) SNV Uncertain significance 206546 rs760043525 15:89862487-89862487 15:89319256-89319256 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.729C>A (p.Asp243Glu) SNV Uncertain significance 452496 rs757917194 15:89873438-89873438 15:89330207-89330207 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.1882C>T (p.Arg628Trp) SNV Uncertain significance 458698 rs754245040 15:89868748-89868748 15:89325517-89325517 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.3317T>C (p.Val1106Ala) SNV Uncertain significance 522129 rs1354582663 15:89861937-89861937 15:89318706-89318706 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.13C>T (p.Leu5Phe) SNV Uncertain significance 522778 rs761648850 15:89876973-89876973 15:89333742-89333742 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.1615_1623del (p.Phe539_Gln541del) deletion Uncertain significance 548594 rs754586219 15:89869932-89869940 15:89326701-89326709 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.2069C>T (p.Thr690Met) SNV Uncertain significance 579888 rs201677865 15:89867339-89867339 15:89324108-89324108 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.260T>C (p.Ile87Thr) SNV Uncertain significance 585152 rs776347449 15:89876726-89876726 15:89333495-89333495 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.2(POLG):c.2466C>G (p.Pro822=) SNV Uncertain significance 625997 rs1235161601 15:89865207-89865207 15:89321976-89321976 MTC055 Mitochondrial Dna Depletion Syndrome 4b FANCI NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) SNV Benign/Likely benign 21312 rs2307441 15:89861826-89861826 15:89318595-89318595 MTC055 Mitochondrial Dna Depletion Syndrome 4b POLG NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) SNV Benign/Likely benign 21312 rs2307441 15:89861826-89861826 15:89318595-89318595 MTC055 Mitochondrial Dna Depletion Syndrome 4b SUCLA2 NM_003850.2(SUCLA2):c.815A>T (p.Asp272Val) SNV Pathogenic 522686 rs1555256440 13:48528680-48528680 13:47954545-47954545 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.887del (p.Gln296fs) deletion Pathogenic 802962 13:48528608-48528608 13:47954473-47954473 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 SUCLA2, 43-BP DEL AND 5-BP INS indel Pathogenic 5975 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.534+1G>A SNV Pathogenic 5976 rs113994161 13:48562675-48562675 13:47988540-47988540 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.352G>A (p.Gly118Arg) SNV Pathogenic 5977 rs121908537 13:48563036-48563036 13:47988901-47988901 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.850C>T (p.Arg284Cys) SNV Pathogenic 5978 rs121908538 13:48528645-48528645 13:47954510-47954510 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.751G>A (p.Asp251Asn) SNV Pathogenic 66034 rs397515462 13:48542781-48542781 13:47968646-47968646 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.920C>T (p.Ala307Val) SNV Conflicting interpretations of pathogenicity 623373 rs1011464708 13:48528575-48528575 13:47954440-47954440 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.1220G>T (p.Arg407Leu) SNV Conflicting interpretations of pathogenicity 203962 rs141295770 13:48523626-48523626 13:47949491-47949491 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.811A>G (p.Met271Val) SNV Conflicting interpretations of pathogenicity 203946 rs142020748 13:48528684-48528684 13:47954549-47954549 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.272-13G>C SNV Conflicting interpretations of pathogenicity 203945 rs367890526 13:48563129-48563129 13:47988994-47988994 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.236C>T (p.Ser79Leu) SNV Conflicting interpretations of pathogenicity 203960 rs142289138 13:48571013-48571013 13:47996878-47996878 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.80C>T (p.Ala27Val) SNV Conflicting interpretations of pathogenicity 203952 rs368407554 13:48575326-48575326 13:48001190-48001190 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.1350G>A (p.Ala450=) SNV Conflicting interpretations of pathogenicity 259184 rs144969057 13:48517548-48517548 13:47943413-47943413 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.49C>G (p.Arg17Gly) SNV Conflicting interpretations of pathogenicity 288868 rs200124902 13:48575357-48575357 13:48001221-48001221 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.21C>T (p.Tyr7=) SNV Conflicting interpretations of pathogenicity 312273 rs374479008 13:48575385-48575385 13:48001249-48001249 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.*349C>G SNV Uncertain significance 312257 rs886050258 13:48517157-48517157 13:47943022-47943022 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.1074A>C (p.Thr358=) SNV Uncertain significance 312266 rs746516356 13:48528308-48528308 13:47954173-47954173 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.802+4A>G SNV Uncertain significance 312268 rs886050263 13:48542726-48542726 13:47968591-47968591 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.373C>T (p.Pro125Ser) SNV Uncertain significance 312270 rs770036022 13:48562837-48562837 13:47988702-47988702 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.272-2A>G SNV Uncertain significance 312271 rs565456094 13:48563118-48563118 13:47988983-47988983 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.-12T>G SNV Uncertain significance 312274 rs753085253 13:48575417-48575417 13:48001281-48001281 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.*431G>C SNV Uncertain significance 312256 rs886050257 13:48517075-48517075 13:47942940-47942940 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.*331C>A SNV Uncertain significance 312258 rs776688171 13:48517175-48517175 13:47943040-47943040 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.*220C>T SNV Uncertain significance 312261 rs184125665 13:48517286-48517286 13:47943151-47943151 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.517A>G (p.Met173Val) SNV Uncertain significance 312269 rs886050264 13:48562693-48562693 13:47988558-47988558 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.68C>G (p.Thr23Arg) SNV Uncertain significance 312272 rs538760468 13:48575338-48575338 13:48001202-48001202 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.-49C>G SNV Uncertain significance 312277 rs779622050 13:48575454-48575454 13:48001318-48001318 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.*468A>G SNV Uncertain significance 312255 rs886050256 13:48517038-48517038 13:47942903-47942903 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.817G>A (p.Ala273Thr) SNV Uncertain significance 312267 rs886050262 13:48528678-48528678 13:47954543-47954543 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.-48G>A SNV Uncertain significance 312276 rs774191261 13:48575453-48575453 13:48001317-48001317 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.617A>G (p.Glu206Gly) SNV Uncertain significance 203956 rs141647723 13:48547445-48547445 13:47973310-47973310 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.361A>G (p.Ile121Val) SNV Uncertain significance 663403 13:48563027-48563027 13:47988892-47988892 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.997G>C (p.Asp333His) SNV Uncertain significance 689473 13:48528385-48528385 13:47954250-47954250 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.274T>G (p.Ser92Ala) SNV Uncertain significance 537758 rs764915250 13:48563114-48563114 13:47988979-47988979 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.3(SUCLA2):c.*435A>G SNV Uncertain significance 883330 13:48517071-48517071 13:47942936-47942936 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.3(SUCLA2):c.*434T>G SNV Uncertain significance 883331 13:48517072-48517072 13:47942937-47942937 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.3(SUCLA2):c.*391A>G SNV Uncertain significance 883332 13:48517115-48517115 13:47942980-47942980 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.3(SUCLA2):c.*380C>T SNV Uncertain significance 880964 13:48517126-48517126 13:47942991-47942991 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.3(SUCLA2):c.*319A>T SNV Uncertain significance 880965 13:48517187-48517187 13:47943052-47943052 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.3(SUCLA2):c.*252C>T SNV Uncertain significance 880966 13:48517254-48517254 13:47943119-47943119 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.3(SUCLA2):c.*184G>A SNV Uncertain significance 882326 13:48517322-48517322 13:47943187-47943187 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.3(SUCLA2):c.1320T>C (p.Val440=) SNV Uncertain significance 882327 13:48517578-48517578 13:47943443-47943443 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.3(SUCLA2):c.1043T>G (p.Val348Gly) SNV Uncertain significance 882595 13:48528339-48528339 13:47954204-47954204 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.3(SUCLA2):c.240A>C (p.Pro80=) SNV Uncertain significance 881024 13:48571009-48571009 13:47996874-47996874 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.3(SUCLA2):c.232A>C (p.Lys78Gln) SNV Uncertain significance 881025 13:48571017-48571017 13:47996882-47996882 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.3(SUCLA2):c.36C>T (p.Ala12=) SNV Uncertain significance 882380 13:48575370-48575370 13:48001234-48001234 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.3(SUCLA2):c.1318-15G>A SNV Uncertain significance 882328 13:48517595-48517595 13:47943460-47943460 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.3(SUCLA2):c.803-4A>G SNV Uncertain significance 882596 13:48528696-48528696 13:47954561-47954561 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.3(SUCLA2):c.664-12T>C SNV Uncertain significance 882597 13:48542880-48542880 13:47968745-47968745 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.3(SUCLA2):c.535-13C>T SNV Uncertain significance 883378 13:48547540-48547540 13:47973405-47973405 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.78G>A (p.Arg26=) SNV Likely benign 537759 rs1174121047 13:48575328-48575328 13:48001192-48001192 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.255A>G (p.Ala85=) SNV Likely benign 705289 13:48570994-48570994 13:47996859-47996859 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.804A>G (p.Val268=) SNV Likely benign 710520 13:48528691-48528691 13:47954556-47954556 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.1239C>T (p.Val413=) SNV Likely benign 736472 13:48523153-48523153 13:47949018-47949018 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.552A>T (p.Gly184=) SNV Likely benign 742971 13:48547510-48547510 13:47973375-47973375 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.819A>C (p.Ala273=) SNV Likely benign 755352 13:48528676-48528676 13:47954541-47954541 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.256A>G (p.Ile86Val) SNV Benign/Likely benign 139364 rs61756204 13:48570993-48570993 13:47996858-47996858 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.37G>A (p.Val13Met) SNV Benign/Likely benign 139366 rs35201084 13:48575369-48575369 13:48001233-48001233 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.510A>G (p.Ala170=) SNV Benign/Likely benign 139359 rs35568795 13:48562700-48562700 13:47988565-47988565 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.595T>A (p.Ser199Thr) SNV Benign 139360 rs7320366 13:48547467-48547467 13:47973332-47973332 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.789T>C (p.Asp263=) SNV Benign 139361 rs57270175 13:48542743-48542743 13:47968608-47968608 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.1099G>A (p.Asp367Asn) SNV Benign 139362 rs117412559 13:48528283-48528283 13:47954148-47954148 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.110T>G (p.Leu37Trp) SNV Benign 139363 rs62636645 13:48571139-48571139 13:47997004-47997004 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.45C>T (p.Thr15=) SNV Benign 139367 rs35899901 13:48575361-48575361 13:48001225-48001225 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.*328A>G SNV Benign 312259 rs13243 13:48517178-48517178 13:47943043-47943043 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.*217T>C SNV Benign 312262 rs4941618 13:48517289-48517289 13:47943154-47943154 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.*205T>C SNV Benign 312263 rs149321505 13:48517301-48517301 13:47943166-47943166 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.*661C>A SNV Benign 312254 rs10397 13:48516845-48516845 13:47942710-47942710 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.*661C>G SNV Benign 312253 rs10397 13:48516845-48516845 13:47942710-47942710 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.-34G>T SNV Benign 312275 rs373530187 13:48575439-48575439 13:48001303-48001303 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.88C>G (p.Gln30Glu) SNV Benign 707080 13:48575318-48575318 13:48001182-48001182 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.3(SUCLA2):c.*581T>G SNV Benign 883329 13:48516925-48516925 13:47942790-47942790 MTC059 Mitochondrial Dna Depletion Syndrome 5 SUCLA2 NM_003850.2(SUCLA2):c.371+9C>T SNV Benign 139358 rs6561424 13:48563008-48563008 13:47988873-47988873 MTC059 Mitochondrial Dna Depletion Syndrome 5 MPV17 NM_002437.5(MPV17):c.376-1G>A SNV Pathogenic 522376 rs1423840146 2:27535115-27535115 2:27312247-27312247 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.376-2A>C SNV Pathogenic 522375 rs113055360 2:27535116-27535116 2:27312248-27312248 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.293del (p.Pro98fs) deletion Pathogenic 522374 rs1553383480 2:27535443-27535443 2:27312576-27312576 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.4(MPV17):c.71-2_79delins4 indel Pathogenic 522377 2:27535968-27535978 2:27313101-27313111 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.279+1G>T SNV Pathogenic 691983 2:27535546-27535546 2:27312679-27312679 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.414dup (p.Pro139fs) duplication Pathogenic 635346 2:27534813-27534814 2:27311945-27311946 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.149G>A (p.Arg50Gln) SNV Pathogenic 16160 rs121909721 2:27535898-27535898 2:27313031-27313031 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.498C>A (p.Asn166Lys) SNV Pathogenic 16161 rs121909722 2:27532813-27532813 2:27309945-27309945 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.148C>T (p.Arg50Trp) SNV Pathogenic 16162 rs121909723 2:27535899-27535899 2:27313032-27313032 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 MPV17, 26-BP DEL, NT116 deletion Pathogenic 16163 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.462-903_0delinsCCTG indel Pathogenic 16166 2:27532179-27533752 2:27309311-27310884 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.122_147del (p.Arg41fs) deletion Pathogenic 38346 rs397507438 2:27535900-27535925 2:27313033-27313058 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.186+2T>C SNV Pathogenic 38347 rs147952488 2:27535859-27535859 2:27312992-27312992 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.22dup (p.Gln8fs) duplication Pathogenic 38349 rs267607266 2:27545362-27545363 2:27322495-27322496 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.262A>G (p.Lys88Glu) SNV Pathogenic 38351 rs267607256 2:27535564-27535564 2:27312697-27312697 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.280G>C (p.Gly94Arg) SNV Pathogenic 38354 rs267607257 2:27535456-27535456 2:27312589-27312589 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.293C>T (p.Pro98Leu) SNV Pathogenic 38355 rs267607258 2:27535443-27535443 2:27312576-27312576 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.485C>A (p.Ala162Asp) SNV Pathogenic 38357 rs267607259 2:27532826-27532826 2:27309958-27309958 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.280-1dup duplication Pathogenic 290443 rs766160589 2:27535451-27535452 2:27312584-27312585 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.70+5G>A SNV Pathogenic 38359 rs267607268 2:27545310-27545310 2:27322443-27322443 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.106C>T (p.Gln36Ter) SNV Pathogenic 242902 rs754051090 2:27535941-27535941 2:27313074-27313074 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.191C>G (p.Pro64Arg) SNV Pathogenic/Likely pathogenic 381523 rs375401970 2:27535635-27535635 2:27312768-27312768 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.135del (p.Glu45fs) deletion Pathogenic/Likely pathogenic 214662 rs777604559 2:27535912-27535912 2:27313045-27313045 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.206G>A (p.Trp69Ter) SNV Pathogenic/Likely pathogenic 38348 rs267607261 2:27535620-27535620 2:27312753-27312753 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.359G>A (p.Trp120Ter) SNV Likely pathogenic 16164 rs121909724 2:27535377-27535377 2:27312510-27312510 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.67G>C (p.Ala23Pro) SNV Likely pathogenic 694361 2:27545318-27545318 2:27322451-27322451 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.130C>T (p.Gln44Ter) SNV Likely pathogenic 694365 2:27535917-27535917 2:27313050-27313050 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.408T>G (p.Tyr136Ter) SNV Likely pathogenic 694367 2:27535082-27535082 2:27312214-27312214 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.278A>C (p.Gln93Pro) SNV Likely pathogenic 694362 2:27535548-27535548 2:27312681-27312681 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.297T>A (p.Cys99Ter) SNV Likely pathogenic 522373 rs1553383467 2:27535439-27535439 2:27312572-27312572 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.461G>T (p.Arg154Met) SNV Likely pathogenic 418311 rs886044113 2:27534767-27534767 2:27311899-27311899 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.408+1G>A SNV Likely pathogenic 424255 rs749361266 2:27535081-27535081 2:27312213-27312213 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.375G>A (p.Arg125=) SNV Likely pathogenic 418309 rs1064793178 2:27535361-27535361 2:27312494-27312494 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.275A>G (p.Asp92Gly) SNV Likely pathogenic 522371 rs1057524366 2:27535551-27535551 2:27312684-27312684 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.509C>T (p.Ser170Phe) SNV Likely pathogenic 38358 rs267607260 2:27532802-27532802 2:27309934-27309934 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.260_262AGA[1] (p.Lys88del) short repeat Likely pathogenic 38352 rs267607263 2:27535561-27535563 2:27312694-27312696 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.268_270TTG[1] (p.Leu91del) short repeat Conflicting interpretations of pathogenicity 38353 rs267607264 2:27535553-27535555 2:27312686-27312688 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.121C>T (p.Arg41Trp) SNV Conflicting interpretations of pathogenicity 214660 rs863224072 2:27535926-27535926 2:27313059-27313059 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.27G>T (p.Arg9=) SNV Conflicting interpretations of pathogenicity 195172 rs35244252 2:27545358-27545358 2:27322491-27322491 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.*12T>G SNV Conflicting interpretations of pathogenicity 387355 rs201202659 2:27532768-27532768 2:27309900-27309900 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.239C>T (p.Thr80Ile) SNV Conflicting interpretations of pathogenicity 283585 rs35759430 2:27535587-27535587 2:27312720-27312720 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.390C>G (p.Ala130=) SNV Conflicting interpretations of pathogenicity 706697 2:27535100-27535100 2:27312232-27312232 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.*367G>A SNV Uncertain significance 896846 2:27532413-27532413 2:27309545-27309545 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.*366C>T SNV Uncertain significance 896847 2:27532414-27532414 2:27309546-27309546 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.*351C>T SNV Uncertain significance 896848 2:27532429-27532429 2:27309561-27309561 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.*188A>G SNV Uncertain significance 897343 2:27532592-27532592 2:27309724-27309724 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.*72A>C SNV Uncertain significance 897344 2:27532708-27532708 2:27309840-27309840 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.*54C>T SNV Uncertain significance 897345 2:27532726-27532726 2:27309858-27309858 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.291C>T (p.Ala97=) SNV Uncertain significance 898499 2:27535445-27535445 2:27312578-27312578 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.223C>G (p.Arg75Gly) SNV Uncertain significance 895508 2:27535603-27535603 2:27312736-27312736 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.451dup (p.Leu151fs) duplication Uncertain significance 38356 rs267607267 2:27534776-27534777 2:27311908-27311909 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.70G>T (p.Gly24Trp) SNV Uncertain significance 16165 rs121909725 2:27545315-27545315 2:27322448-27322448 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.451C>T (p.Leu151Phe) SNV Uncertain significance 594010 rs745609578 2:27534777-27534777 2:27311909-27311909 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.284G>A (p.Gly95Asp) SNV Uncertain significance 522372 rs1260392202 2:27535452-27535452 2:27312585-27312585 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.197T>A (p.Val66Glu) SNV Uncertain significance 694366 2:27535629-27535629 2:27312762-27312762 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.107A>C (p.Gln36Pro) SNV Uncertain significance 694364 2:27535940-27535940 2:27313073-27313073 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.62T>G (p.Leu21Arg) SNV Uncertain significance 694363 2:27545323-27545323 2:27322456-27322456 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.403T>A (p.Tyr135Asn) SNV Uncertain significance 635316 2:27535087-27535087 2:27312219-27312219 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.234_242del (p.Gly79_Thr81del) deletion Uncertain significance 38350 rs267607262 2:27535584-27535592 2:27312717-27312725 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.*130G>T SNV Uncertain significance 335523 rs886055896 2:27532650-27532650 2:27309782-27309782 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.373C>T (p.Arg125Trp) SNV Uncertain significance 335526 rs112170670 2:27535363-27535363 2:27312496-27312496 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.*360G>C SNV Uncertain significance 335520 rs866206271 2:27532420-27532420 2:27309552-27309552 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.*347C>T SNV Uncertain significance 335521 rs144697795 2:27532433-27532433 2:27309565-27309565 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.*80C>T SNV Uncertain significance 335524 rs200529035 2:27532700-27532700 2:27309832-27309832 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.164T>C (p.Val55Ala) SNV Uncertain significance 335527 rs575558175 2:27535883-27535883 2:27313016-27313016 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.-11G>C SNV Uncertain significance 335529 rs886055898 2:27545924-27545924 2:27323057-27323057 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.*413A>C SNV Uncertain significance 335519 rs575276701 2:27532367-27532367 2:27309499-27309499 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.*194G>A SNV Uncertain significance 335522 rs886055895 2:27532586-27532586 2:27309718-27309718 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.*34G>A SNV Uncertain significance 335525 rs147885371 2:27532746-27532746 2:27309878-27309878 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.-6+8G>A SNV Uncertain significance 335528 rs886055897 2:27545911-27545911 2:27323044-27323044 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.*229T>C SNV Likely benign 897342 2:27532551-27532551 2:27309683-27309683 MTC058 Mitochondrial Dna Depletion Syndrome 6 MPV17 NM_002437.5(MPV17):c.444G>A (p.Leu148=) SNV Benign/Likely benign 387978 rs776964645 2:27534784-27534784 2:27311916-27311916 MTC058 Mitochondrial Dna Depletion Syndrome 6 TWNK NM_021830.5(TWNK):c.49del (p.Leu17fs) deletion Pathogenic 694436 10:102748013-102748013 10:100988256-100988256 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.1370C>T (p.Thr457Ile) SNV Pathogenic 4626 rs80356544 10:102749527-102749527 10:100989770-100989770 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) SNV Pathogenic 4627 rs80356540 10:102750231-102750231 10:100990474-100990474 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.952G>A (p.Ala318Thr) SNV Pathogenic 4630 rs80356542 10:102748919-102748919 10:100989162-100989162 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.1287C>T (p.Ala429=) SNV Pathogenic 21673 rs80356541 10:102749444-102749444 10:100989687-100989687 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.333del (p.Leu112fs) deletion Pathogenic 225837 rs886037832 10:102748298-102748298 10:100988541-100988541 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.904C>T (p.Arg302Trp) SNV Likely pathogenic 225838 rs374997012 10:102748871-102748871 10:100989114-100989114 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp) SNV Likely pathogenic 56727 rs386834146 10:102749544-102749544 10:100989787-100989787 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.1199G>T (p.Arg400Leu) SNV Likely pathogenic 694431 10:102749166-102749166 10:100989409-100989409 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.1314C>G (p.Asn438Lys) SNV Likely pathogenic 694434 10:102749471-102749471 10:100989714-100989714 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.1628G>A (p.Arg543Gln) SNV Likely pathogenic 694432 10:102750661-102750661 10:100990904-100990904 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.1441C>G (p.Leu481Val) SNV Likely pathogenic 638300 10:102749598-102749598 10:100989841-100989841 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.56G>A (p.Gly19Glu) SNV Conflicting interpretations of pathogenicity 426493 rs767175342 10:102748023-102748023 10:100988266-100988266 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.1244-14C>T SNV Conflicting interpretations of pathogenicity 507889 rs758757135 10:102749387-102749387 10:100989630-100989630 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro) SNV Conflicting interpretations of pathogenicity 632124 rs758026634 10:102749037-102749037 10:100989280-100989280 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.672T>C (p.Ala224=) SNV Conflicting interpretations of pathogenicity 878844 10:102748639-102748639 10:100988882-100988882 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.639C>T (p.Gly213=) SNV Conflicting interpretations of pathogenicity 136587 rs11542130 10:102748606-102748606 10:100988849-100988849 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.1953G>A (p.Lys651=) SNV Conflicting interpretations of pathogenicity 878401 10:102753165-102753165 10:100993408-100993408 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.1735-14C>A SNV Conflicting interpretations of pathogenicity 136594 rs201795189 10:102752933-102752933 10:100993176-100993176 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) SNV Conflicting interpretations of pathogenicity 214185 rs863223921 10:102749163-102749163 10:100989406-100989406 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg) SNV Conflicting interpretations of pathogenicity 214177 rs116046810 10:102750730-102750730 10:100990973-100990973 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) SNV Conflicting interpretations of pathogenicity 214178 rs370814108 10:102753187-102753187 10:100993430-100993430 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.2045G>A (p.Arg682His) SNV Conflicting interpretations of pathogenicity 214180 rs182559752 10:102753257-102753257 10:100993500-100993500 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.241C>G (p.Leu81Val) SNV Conflicting interpretations of pathogenicity 279715 rs145068570 10:102748208-102748208 10:100988451-100988451 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.384C>T (p.Ser128=) SNV Conflicting interpretations of pathogenicity 281415 rs148234280 10:102748351-102748351 10:100988594-100988594 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.-650A>G SNV Conflicting interpretations of pathogenicity 298484 rs187213541 10:102747318-102747318 10:100987561-100987561 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg) SNV Conflicting interpretations of pathogenicity 298500 rs62626271 10:102749009-102749009 10:100989252-100989252 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.1488T>C (p.Thr496=) SNV Conflicting interpretations of pathogenicity 298502 rs549767223 10:102750196-102750196 10:100990439-100990439 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.-290G>C SNV Conflicting interpretations of pathogenicity 298491 rs62626270 10:102747678-102747678 10:100987921-100987921 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.*301C>T SNV Conflicting interpretations of pathogenicity 298507 rs41291468 10:102753568-102753568 10:100993811-100993811 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.492C>T (p.Leu164=) SNV Conflicting interpretations of pathogenicity 298498 rs775463083 10:102748459-102748459 10:100988702-100988702 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.922T>C (p.Leu308=) SNV Conflicting interpretations of pathogenicity 298499 rs754389465 10:102748889-102748889 10:100989132-100989132 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.1101C>T (p.Ile367=) SNV Conflicting interpretations of pathogenicity 298501 rs200798080 10:102749068-102749068 10:100989311-100989311 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.76G>A (p.Gly26Ser) SNV Conflicting interpretations of pathogenicity 298494 rs577209883 10:102748043-102748043 10:100988286-100988286 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.*419A>T SNV Conflicting interpretations of pathogenicity 298509 rs187553791 10:102753686-102753686 10:100993929-100993929 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.1609T>C (p.Tyr537His) SNV Conflicting interpretations of pathogenicity 383137 rs144001072 10:102750642-102750642 10:100990885-100990885 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu) SNV Uncertain significance 298504 rs886046632 10:102753065-102753065 10:100993308-100993308 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.*574C>T SNV Uncertain significance 298515 rs886046636 10:102753841-102753841 10:100994084-100994084 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.*619G>A SNV Uncertain significance 298516 rs886046637 10:102753886-102753886 10:100994129-100994129 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.*709C>G SNV Uncertain significance 298517 rs41291470 10:102753976-102753976 10:100994219-100994219 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.*747C>G SNV Uncertain significance 298518 rs886046638 10:102754014-102754014 10:100994257-100994257 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.*763T>C SNV Uncertain significance 298519 rs886046639 10:102754030-102754030 10:100994273-100994273 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.-585T>G SNV Uncertain significance 298486 rs886046624 10:102747383-102747383 10:100987626-100987626 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.77G>T (p.Gly26Val) SNV Uncertain significance 298495 rs772221026 10:102748044-102748044 10:100988287-100988287 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.*438G>C SNV Uncertain significance 298510 rs886046634 10:102753705-102753705 10:100993948-100993948 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.-549G>A SNV Uncertain significance 298487 rs886046625 10:102747419-102747419 10:100987662-100987662 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.-470G>A SNV Uncertain significance 298488 rs886046626 10:102747498-102747498 10:100987741-100987741 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.*555G>A SNV Uncertain significance 298514 rs886046635 10:102753822-102753822 10:100994065-100994065 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.276C>T (p.Gly92=) SNV Uncertain significance 298497 rs886046631 10:102748243-102748243 10:100988486-100988486 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.-644A>T SNV Uncertain significance 298485 rs886046623 10:102747324-102747324 10:100987567-100987567 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.*234T>G SNV Uncertain significance 298506 rs886046633 10:102753501-102753501 10:100993744-100993744 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.*367A>G SNV Uncertain significance 298508 rs62626296 10:102753634-102753634 10:100993877-100993877 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.-423C>T SNV Uncertain significance 298489 rs886046627 10:102747545-102747545 10:100987788-100987788 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.247C>T (p.Pro83Ser) SNV Uncertain significance 56728 rs386834147 10:102748214-102748214 10:100988457-100988457 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.*248G>A SNV Uncertain significance 877431 10:102753515-102753515 10:100993758-100993758 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.*341G>A SNV Uncertain significance 878455 10:102753608-102753608 10:100993851-100993851 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.*346A>C SNV Uncertain significance 878456 10:102753613-102753613 10:100993856-100993856 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.*453G>A SNV Uncertain significance 880257 10:102753720-102753720 10:100993963-100993963 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.*552G>C SNV Uncertain significance 878511 10:102753819-102753819 10:100994062-100994062 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.*561C>T SNV Uncertain significance 879092 10:102753828-102753828 10:100994071-100994071 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.*769G>A SNV Uncertain significance 878551 10:102754036-102754036 10:100994279-100994279 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.1366C>G (p.Leu456Val) SNV Uncertain significance 56726 rs386834145 10:102749523-102749523 10:100989766-100989766 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.913G>A (p.Val305Ile) SNV Uncertain significance 880052 10:102748880-102748880 10:100989123-100989123 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.1572C>T (p.His524=) SNV Uncertain significance 877318 10:102750280-102750280 10:100990523-100990523 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr) SNV Uncertain significance 878940 10:102750630-102750630 10:100990873-100990873 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu) SNV Uncertain significance 877377 10:102753038-102753038 10:100993281-100993281 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr) SNV Uncertain significance 878400 10:102753118-102753118 10:100993361-100993361 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.793C>T (p.Arg265Cys) SNV Uncertain significance 694394 10:102748760-102748760 10:100989003-100989003 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.-622C>T SNV Uncertain significance 877083 10:102747346-102747346 10:100987589-100987589 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.-592C>T SNV Uncertain significance 878124 10:102747376-102747376 10:100987619-100987619 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.-584G>C SNV Uncertain significance 879588 10:102747384-102747384 10:100987627-100987627 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.-418C>T SNV Uncertain significance 877145 10:102747550-102747550 10:100987793-100987793 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.-304G>A SNV Uncertain significance 877146 10:102747664-102747664 10:100987907-100987907 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.596G>A (p.Arg199Gln) SNV Uncertain significance 878242 10:102748563-102748563 10:100988806-100988806 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.1172G>A (p.Arg391His) SNV Likely benign 162048 rs556445621 10:102749139-102749139 10:100989382-100989382 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.-241C>T SNV Likely benign 298492 rs113159821 10:102747727-102747727 10:100987970-100987970 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.*455C>T SNV Benign/Likely benign 298511 rs148810959 10:102753722-102753722 10:100993965-100993965 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.1527C>T (p.Asp509=) SNV Benign/Likely benign 298503 rs62626272 10:102750235-102750235 10:100990478-100990478 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.*204G>A SNV Benign 298505 rs61871507 10:102753471-102753471 10:100993714-100993714 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.*766A>T SNV Benign 298520 rs3740488 10:102754033-102754033 10:100994276-100994276 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.*521C>G SNV Benign 298513 rs11542131 10:102753788-102753788 10:100994031-100994031 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.1102G>A (p.Val368Ile) SNV Benign 136588 rs17113613 10:102749069-102749069 10:100989312-100989312 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.1593-5C>T SNV Benign 136589 rs3740485 10:102750621-102750621 10:100990864-100990864 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.1593-3T>C SNV Benign 136590 rs3740486 10:102750623-102750623 10:100990866-100990866 MTC054 Mitochondrial Dna Depletion Syndrome 7 TWNK NM_021830.5(TWNK):c.-605G>T SNV Benign 136593 rs3740484 10:102747363-102747363 10:100987606-100987606 MTC054 Mitochondrial Dna Depletion Syndrome 7 RRM2B NM_015713.5(RRM2B):c.527_528insG (p.Ile176fs) insertion Pathogenic 830053 8:103236296-103236297 8:102224068-102224069 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.1066C>T (p.Gln356Ter) SNV Pathogenic 5386 rs121918307 8:103225057-103225057 8:102212829-102212829 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.538-2A>G SNV Pathogenic 5387 rs515726185 8:103237248-103237248 8:102225020-102225020 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.796G>A (p.Glu266Lys) SNV Pathogenic 5388 rs121918308 8:103231146-103231146 8:102218918-102218918 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B RRM2B, 3-BP DEL, 253GAG deletion Pathogenic 5389 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.923G>T (p.Cys308Phe) SNV Pathogenic 5390 rs121918309 8:103226364-103226364 8:102214136-102214136 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.902G>T (p.Gly301Val) SNV Pathogenic 5392 rs121918311 8:103226385-103226385 8:102214157-102214157 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.545G>A (p.Arg182His) SNV Pathogenic 5393 rs267607025 8:103237239-103237239 8:102225011-102225011 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.578G>A (p.Arg193His) SNV Pathogenic 5394 rs267607024 8:103237206-103237206 8:102224978-102224978 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.-5G>A SNV Pathogenic 132103 rs515726180 8:103251055-103251055 8:102238827-102238827 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.337C>T (p.Arg113Trp) SNV Pathogenic 132104 rs515726181 8:103244460-103244460 8:102232232-102232232 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.887T>G (p.Ile296Ser) SNV Pathogenic/Likely pathogenic 132122 rs515726196 8:103231055-103231055 8:102218827-102218827 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.334C>T (p.Arg112Cys) SNV Likely pathogenic 215095 rs776184830 8:103244463-103244463 8:102232235-102232235 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.851_852insAAG (p.Leu285_Met286insSer) insertion Likely pathogenic 216993 rs863224914 8:103231090-103231091 8:102218862-102218863 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_015713.5(RRM2B):c.128T>A (p.Val43Asp) SNV Likely pathogenic 830054 8:103244453-103244453 8:102232225-102232225 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.878A>G (p.Asn293Ser) SNV Conflicting interpretations of pathogenicity 215094 rs863224193 8:103231064-103231064 8:102218836-102218836 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.760A>G (p.Thr254Ala) SNV Conflicting interpretations of pathogenicity 215088 rs147315735 8:103236280-103236280 8:102224052-102224052 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NC_000008.11:g.102238975C>T SNV Conflicting interpretations of pathogenicity 909125 8:103251203-103251203 8:102238975-102238975 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*2822A>T SNV Conflicting interpretations of pathogenicity 361138 rs189278573 8:103217539-103217539 8:102205311-102205311 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*11G>A SNV Conflicting interpretations of pathogenicity 361175 rs29000285 8:103220350-103220350 8:102208122-102208122 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*3078G>T SNV Conflicting interpretations of pathogenicity 361133 rs113860402 8:103217283-103217283 8:102205055-102205055 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*817G>A SNV Conflicting interpretations of pathogenicity 361167 rs190474682 8:103219544-103219544 8:102207316-102207316 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.1129G>T (p.Ala377Ser) SNV Conflicting interpretations of pathogenicity 361176 rs201440849 8:103220504-103220504 8:102208276-102208276 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.972G>A (p.Arg324=) SNV Conflicting interpretations of pathogenicity 361178 rs377736828 8:103226315-103226315 8:102214087-102214087 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.756A>G (p.Lys252=) SNV Conflicting interpretations of pathogenicity 361179 rs200301242 8:103236284-103236284 8:102224056-102224056 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.1006-9T>C SNV Conflicting interpretations of pathogenicity 361177 rs573435546 8:103225126-103225126 8:102212898-102212898 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*855C>G SNV Uncertain significance 361166 rs886062567 8:103219506-103219506 8:102207278-102207278 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*247G>A SNV Uncertain significance 361172 rs886062568 8:103220114-103220114 8:102207886-102207886 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.719A>G (p.Lys240Arg) SNV Uncertain significance 361180 rs886062571 8:103236321-103236321 8:102224093-102224093 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*3125T>C SNV Uncertain significance 361132 rs886062560 8:103217236-103217236 8:102205008-102205008 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*328G>A SNV Uncertain significance 361171 rs142449540 8:103220033-103220033 8:102207805-102207805 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*2809G>A SNV Uncertain significance 361139 rs886062562 8:103217552-103217552 8:102205324-102205324 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*2722A>G SNV Uncertain significance 361140 rs543127762 8:103217639-103217639 8:102205411-102205411 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*552G>A SNV Uncertain significance 361170 rs375924434 8:103219809-103219809 8:102207581-102207581 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*73A>T SNV Uncertain significance 361174 rs886062570 8:103220288-103220288 8:102208060-102208060 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*3266G>T SNV Uncertain significance 361131 rs746260787 8:103217095-103217095 8:102204867-102204867 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*2978A>G SNV Uncertain significance 361135 rs761021253 8:103217383-103217383 8:102205155-102205155 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*2513T>C SNV Uncertain significance 361144 rs866323859 8:103217848-103217848 8:102205620-102205620 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*2960G>A SNV Uncertain significance 361136 rs886062561 8:103217401-103217401 8:102205173-102205173 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*2410C>A SNV Uncertain significance 361146 rs767476703 8:103217951-103217951 8:102205723-102205723 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*1717T>A SNV Uncertain significance 361155 rs886062566 8:103218644-103218644 8:102206416-102206416 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*3289A>G SNV Uncertain significance 361130 rs569359604 8:103217072-103217072 8:102204844-102204844 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*869G>T SNV Uncertain significance 361164 rs771055735 8:103219492-103219492 8:102207264-102207264 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*788T>C SNV Uncertain significance 361168 rs559700946 8:103219573-103219573 8:102207345-102207345 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NC_000008.11:g.102239067C>G SNV Uncertain significance 909969 8:103251295-103251295 8:102239067-102239067 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_015713.5(RRM2B):c.162A>G (p.Lys54=) SNV Uncertain significance 909123 8:103244419-103244419 8:102232191-102232191 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_015713.5(RRM2B):c.-1G>C SNV Uncertain significance 909124 8:103251103-103251103 8:102238875-102238875 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_015713.5(RRM2B):c.*3577G>T SNV Uncertain significance 909664 8:103216784-103216784 8:102204556-102204556 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_015713.5(RRM2B):c.*3473A>G SNV Uncertain significance 910591 8:103216888-103216888 8:102204660-102204660 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_015713.5(RRM2B):c.*3250G>C SNV Uncertain significance 908867 8:103217111-103217111 8:102204883-102204883 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_015713.5(RRM2B):c.*3118T>G SNV Uncertain significance 908868 8:103217243-103217243 8:102205015-102205015 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_015713.5(RRM2B):c.*2995A>T SNV Uncertain significance 909724 8:103217366-103217366 8:102205138-102205138 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_015713.5(RRM2B):c.*2991C>T SNV Uncertain significance 909725 8:103217370-103217370 8:102205142-102205142 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_015713.5(RRM2B):c.*2885A>G SNV Uncertain significance 910647 8:103217476-103217476 8:102205248-102205248 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_015713.5(RRM2B):c.*2728G>A SNV Uncertain significance 911873 8:103217633-103217633 8:102205405-102205405 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_015713.5(RRM2B):c.*1664T>A SNV Uncertain significance 910701 8:103218697-103218697 8:102206469-102206469 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_015713.5(RRM2B):c.*1552T>C SNV Uncertain significance 911923 8:103218809-103218809 8:102206581-102206581 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_015713.5(RRM2B):c.*1522A>G SNV Uncertain significance 911924 8:103218839-103218839 8:102206611-102206611 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_015713.5(RRM2B):c.*1510T>C SNV Uncertain significance 908996 8:103218851-103218851 8:102206623-102206623 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_015713.5(RRM2B):c.*1451A>C SNV Uncertain significance 908997 8:103218910-103218910 8:102206682-102206682 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_015713.5(RRM2B):c.*1337G>C SNV Uncertain significance 908998 8:103219024-103219024 8:102206796-102206796 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_015713.5(RRM2B):c.*895G>A SNV Uncertain significance 909862 8:103219466-103219466 8:102207238-102207238 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_015713.5(RRM2B):c.*485A>C SNV Uncertain significance 909055 8:103219876-103219876 8:102207648-102207648 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_015713.5(RRM2B):c.*436A>G SNV Uncertain significance 909056 8:103219925-103219925 8:102207697-102207697 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_015713.5(RRM2B):c.*190T>C SNV Benign/Likely benign 909057 8:103220171-103220171 8:102207943-102207943 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_015713.5(RRM2B):c.*1867C>T SNV Benign/Likely benign 909797 8:103218494-103218494 8:102206266-102206266 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*3489A>G SNV Benign/Likely benign 361127 rs540839717 8:103216872-103216872 8:102204644-102204644 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*1596T>C SNV Benign/Likely benign 361158 rs182874090 8:103218765-103218765 8:102206537-102206537 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_015713.4(RRM2B):c.-153G>T SNV Benign/Likely benign 361183 rs2290707 8:103251255-103251255 8:102239027-102239027 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*2236A>T SNV Benign/Likely benign 361148 rs566194929 8:103218125-103218125 8:102205897-102205897 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*1351T>C SNV Benign/Likely benign 361160 rs114108597 8:103219010-103219010 8:102206782-102206782 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*2136G>A SNV Benign 361150 rs139212686 8:103218225-103218225 8:102205997-102205997 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_015713.4(RRM2B):c.-103G>A SNV Benign 361182 rs7844478 8:103251205-103251205 8:102238977-102238977 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_015713.4(RRM2B):c.-157G>A SNV Benign 361184 rs28927991 8:103251259-103251259 8:102239031-102239031 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*3555T>C SNV Benign 361125 rs29000293 8:103216806-103216806 8:102204578-102204578 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*1953A>G SNV Benign 361153 rs11987823 8:103218408-103218408 8:102206180-102206180 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*1673T>G SNV Benign 361156 rs16918482 8:103218688-103218688 8:102206460-102206460 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*1277A>T SNV Benign 361161 rs5005121 8:103219084-103219084 8:102206856-102206856 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*1121T>C SNV Benign 361162 rs4102401 8:103219240-103219240 8:102207012-102207012 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*998A>G SNV Benign 361163 rs3907099 8:103219363-103219363 8:102207135-102207135 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_015713.4(RRM2B):c.-88C>A SNV Benign 361181 rs72554091 8:103251190-103251190 8:102238962-102238962 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*732A>G SNV Benign 361169 rs16869269 8:103219629-103219629 8:102207401-102207401 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*3463C>T SNV Benign 361128 rs1052069 8:103216898-103216898 8:102204670-102204670 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*2879A>G SNV Benign 361137 rs3204695 8:103217482-103217482 8:102205254-102205254 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*2097T>A SNV Benign 361151 rs116394626 8:103218264-103218264 8:102206036-102206036 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*2035A>G SNV Benign 361152 rs1055958 8:103218326-103218326 8:102206098-102206098 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*1488G>C SNV Benign 361159 rs1265116 8:103218873-103218873 8:102206645-102206645 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*866T>G SNV Benign 361165 rs29000286 8:103219495-103219495 8:102207267-102207267 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*1601A>G SNV Benign 361157 rs140164634 8:103218760-103218760 8:102206532-102206532 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*2675A>G SNV Benign 361141 rs3735720 8:103217686-103217686 8:102205458-102205458 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*2666T>C SNV Benign 361142 rs3735721 8:103217695-103217695 8:102205467-102205467 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*3593G>A SNV Benign 361124 rs29000294 8:103216768-103216768 8:102204540-102204540 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*3527G>A SNV Benign 361126 rs1052071 8:103216834-103216834 8:102204606-102204606 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.*3395C>G SNV Benign 361129 rs11575866 8:103216966-103216966 8:102204738-102204738 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.423C>T (p.Val141=) SNV Benign 138929 rs28999710 8:103238260-103238260 8:102226032-102226032 MTC065 Mitochondrial Dna Depletion Syndrome 8a RRM2B NM_001172477.1(RRM2B):c.1006-8C>A SNV Benign 138930 rs376542259 8:103225125-103225125 8:102212897-102212897 MTC065 Mitochondrial Dna Depletion Syndrome 8a SUCLG1 NM_003849.4(SUCLG1):c.40A>T (p.Met14Leu) SNV Pathogenic 561158 rs796052053 2:84686354-84686354 2:84459230-84459230 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.548T>C (p.Ile183Thr) SNV Pathogenic 801727 2:84668212-84668212 2:84441088-84441088 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.201+1G>T SNV Pathogenic 801730 2:84676772-84676772 2:84449648-84449648 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.457_458delinsTA (p.Val153Ter) indel Pathogenic 818207 2:84668444-84668445 2:84441320-84441321 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 SUCLG1, 2-BP DEL, 113AT deletion Pathogenic 988 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.254G>C (p.Gly85Ala) SNV Pathogenic 18409 rs267607097 2:84670472-84670472 2:84443348-84443348 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.509C>G (p.Pro170Arg) SNV Pathogenic 18410 rs267607099 2:84668393-84668393 2:84441269-84441269 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.97+3G>C SNV Pathogenic 18411 rs786205871 2:84686294-84686294 2:84459170-84459170 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.448C>T (p.Gln150Ter) SNV Pathogenic 18412 rs267607098 2:84668454-84668454 2:84441330-84441330 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.507del (p.Asn171fs) deletion Pathogenic 212328 rs797046017 2:84668395-84668395 2:84441271-84441271 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.41T>C (p.Met14Thr) SNV Likely pathogenic 632366 rs1369567672 2:84686353-84686353 2:84459229-84459229 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.202-4T>C SNV Conflicting interpretations of pathogenicity 139369 rs141973418 2:84670528-84670528 2:84443404-84443404 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.900C>T (p.Ala300=) SNV Conflicting interpretations of pathogenicity 203967 rs113840224 2:84652653-84652653 2:84425529-84425529 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.481C>T (p.Arg161Cys) SNV Conflicting interpretations of pathogenicity 203980 rs141331864 2:84668421-84668421 2:84441297-84441297 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp) SNV Conflicting interpretations of pathogenicity 203970 rs143030960 2:84670490-84670490 2:84443366-84443366 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.110G>C (p.Gly37Ala) SNV Conflicting interpretations of pathogenicity 203968 rs369610897 2:84676864-84676864 2:84449740-84449740 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.590-6G>A SNV Conflicting interpretations of pathogenicity 337155 rs200107730 2:84660565-84660565 2:84433441-84433441 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.345T>C (p.Ala115=) SNV Conflicting interpretations of pathogenicity 337157 rs374594774 2:84668557-84668557 2:84441433-84441433 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.3(SUCLG1):c.-39C>G SNV Conflicting interpretations of pathogenicity 337164 rs144946502 2:84686432-84686432 2:84459308-84459308 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.242A>G (p.Lys81Arg) SNV Conflicting interpretations of pathogenicity 337158 rs564792232 2:84670484-84670484 2:84443360-84443360 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.384C>T (p.Ala128=) SNV Conflicting interpretations of pathogenicity 389404 rs139731592 2:84668518-84668518 2:84441394-84441394 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.*38C>T SNV Uncertain significance 337151 rs369617521 2:84650832-84650832 2:84423708-84423708 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.959G>A (p.Ser320Asn) SNV Uncertain significance 337154 rs146834097 2:84652594-84652594 2:84425470-84425470 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.101C>T (p.Pro34Leu) SNV Uncertain significance 337160 rs149809280 2:84676873-84676873 2:84449749-84449749 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.3(SUCLG1):c.-150T>A SNV Uncertain significance 337169 rs886056354 2:84686543-84686543 2:84459419-84459419 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.3(SUCLG1):c.-186G>A SNV Uncertain significance 337170 rs143151382 2:84686579-84686579 2:84459455-84459455 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.98-15_98-14insAACC insertion Uncertain significance 337163 rs886056352 2:84676890-84676891 2:84449766-84449767 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.3(SUCLG1):c.-71G>T SNV Uncertain significance 337166 rs886056353 2:84686464-84686464 2:84459340-84459340 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.3(SUCLG1):c.-107A>G SNV Uncertain significance 337167 rs140936198 2:84686500-84686500 2:84459376-84459376 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.1028G>C (p.Arg343Thr) SNV Uncertain significance 337153 rs748995693 2:84650883-84650883 2:84423759-84423759 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.201+8T>A SNV Uncertain significance 337159 rs764185628 2:84676765-84676765 2:84449641-84449641 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.*13del deletion Uncertain significance 337152 rs527774382 2:84650857-84650857 2:84423733-84423733 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.341C>T (p.Thr114Met) SNV Uncertain significance 203973 rs201224138 2:84668561-84668561 2:84441437-84441437 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.*218A>G SNV Uncertain significance 337147 rs570310549 2:84650652-84650652 2:84423528-84423528 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.395C>G (p.Ala132Gly) SNV Uncertain significance 337156 rs376171433 2:84668507-84668507 2:84441383-84441383 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.98-10_98-8del deletion Uncertain significance 337161 rs886056350 2:84676884-84676886 2:84449760-84449762 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.3(SUCLG1):c.-39C>A SNV Uncertain significance 337165 rs144946502 2:84686432-84686432 2:84459308-84459308 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.11C>T (p.Thr4Ile) SNV Uncertain significance 539289 rs766814700 2:84686383-84686383 2:84459259-84459259 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.352A>G (p.Ile118Val) SNV Uncertain significance 539290 rs181953896 2:84668550-84668550 2:84441426-84441426 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.635A>G (p.Gln212Arg) SNV Uncertain significance 561121 rs767781003 2:84660514-84660514 2:84433390-84433390 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.825+1G>A SNV Uncertain significance 632364 rs750388794 2:84658631-84658631 2:84431507-84431507 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.443C>T (p.Pro148Leu) SNV Uncertain significance 635004 rs1331661730 2:84668459-84668459 2:84441335-84441335 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.721G>A (p.Glu241Lys) SNV Uncertain significance 579004 rs145106503 2:84658736-84658736 2:84431612-84431612 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.338C>G (p.Ala113Gly) SNV Uncertain significance 567097 rs200123223 2:84668564-84668564 2:84441440-84441440 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.152_153del (p.Tyr51fs) deletion Uncertain significance 632365 rs1308442327 2:84676821-84676822 2:84449697-84449698 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.24C>A (p.Ala8=) SNV Uncertain significance 841381 2:84686370-84686370 2:84459246-84459246 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.*126G>A SNV Uncertain significance 898838 2:84650744-84650744 2:84423620-84423620 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.87C>T (p.Arg29=) SNV Uncertain significance 897750 2:84686307-84686307 2:84459183-84459183 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.319-8T>C SNV Uncertain significance 895876 2:84668591-84668591 2:84441467-84441467 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.202-3C>T SNV Uncertain significance 896150 2:84670527-84670527 2:84443403-84443403 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.202-8C>T SNV Likely benign 762044 2:84670532-84670532 2:84443408-84443408 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.3(SUCLG1):c.-133C>T SNV Likely benign 337168 rs12621740 2:84686526-84686526 2:84459402-84459402 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.*55G>C SNV Likely benign 337150 rs80166442 2:84650815-84650815 2:84423691-84423691 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.*207A>G SNV Benign/Likely benign 337148 rs73942653 2:84650663-84650663 2:84423539-84423539 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.201+9A>G SNV Benign/Likely benign 139368 rs116492610 2:84676764-84676764 2:84449640-84449640 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.98-14_98-11del deletion Benign 440310 rs56733272 2:84676887-84676890 2:84449763-84449766 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.98-13_98-11del deletion Benign 337162 rs56733272 2:84676887-84676889 2:84449763-84449765 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG1 NM_003849.4(SUCLG1):c.*163T>C SNV Benign 337149 rs2832 2:84650707-84650707 2:84423583-84423583 MTC060 Mitochondrial Dna Depletion Syndrome 9 SUCLG2 NM_003848.3(SUCLG2):c.1082A>G (p.Asn361Ser) SNV not provided 684536 3:67451256-67451256 3:67400832-67400832 MTC060 Mitochondrial Dna Depletion Syndrome 9 TRNR m.10438A>G SNV Pathogenic 9623 rs121434456 MT:10438-10438 MT:10438-10438 MTC004 Mitochondrial Encephalomyopathy CYTB m.15242G>A SNV Pathogenic 9680 rs207459999 MT:15242-15242 MT:15242-15242 MTC004 Mitochondrial Encephalomyopathy TRNR m.10450A>G SNV Pathogenic 30000 rs387906731 MT:10450-10450 MT:10450-10450 MTC004 Mitochondrial Encephalomyopathy TRNW m.5556G>A SNV Pathogenic 30007 rs387906736 MT:5556-5556 MT:5556-5556 MTC004 Mitochondrial Encephalomyopathy TRNL2 m.12315G>A SNV Pathogenic 9586 rs121434462 MT:12315-12315 MT:12315-12315 MTC004 Mitochondrial Encephalomyopathy FARS2 NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys) SNV Pathogenic/Likely pathogenic 39824 rs397514610 6:5369234-5369234 6:5369001-5369001 MTC004 Mitochondrial Encephalomyopathy MFF NM_001277062.2(MFF):c.112C>T (p.Gln38Ter) SNV Pathogenic/Likely pathogenic 39831 rs397514615 2:228195493-228195493 2:227330777-227330777 MTC004 Mitochondrial Encephalomyopathy FBXL4 NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) SNV Pathogenic/Likely pathogenic 66093 rs398123061 6:99323549-99323549 6:98875673-98875673 MTC004 Mitochondrial Encephalomyopathy TRNL1 m.3252A>G SNV Likely pathogenic 9594 rs199474661 MT:3252-3252 MT:3252-3252 MTC004 Mitochondrial Encephalomyopathy COX3 NC_012920.1:m.7730_11255del3526 deletion Pathogenic 430677 MT:7730-11255 MT:7730-11255 MTC005 Mitochondrial Metabolism Disease ND3 NC_012920.1:m.7730_11255del3526 deletion Pathogenic 430677 MT:7730-11255 MT:7730-11255 MTC005 Mitochondrial Metabolism Disease ND4 NC_012920.1:m.7730_11255del3526 deletion Pathogenic 430677 MT:7730-11255 MT:7730-11255 MTC005 Mitochondrial Metabolism Disease ND4L NC_012920.1:m.7730_11255del3526 deletion Pathogenic 430677 MT:7730-11255 MT:7730-11255 MTC005 Mitochondrial Metabolism Disease TRNG NC_012920.1:m.7730_11255del3526 deletion Pathogenic 430677 MT:7730-11255 MT:7730-11255 MTC005 Mitochondrial Metabolism Disease TRNK NC_012920.1:m.7730_11255del3526 deletion Pathogenic 430677 MT:7730-11255 MT:7730-11255 MTC005 Mitochondrial Metabolism Disease TRNR NC_012920.1:m.7730_11255del3526 deletion Pathogenic 430677 MT:7730-11255 MT:7730-11255 MTC005 Mitochondrial Metabolism Disease ATP6 NC_012920.1:m.7730_11255del3526 deletion Pathogenic 430677 MT:7730-11255 MT:7730-11255 MTC005 Mitochondrial Metabolism Disease ATP8 NC_012920.1:m.7730_11255del3526 deletion Pathogenic 430677 MT:7730-11255 MT:7730-11255 MTC005 Mitochondrial Metabolism Disease COX2 NC_012920.1:m.7730_11255del3526 deletion Pathogenic 430677 MT:7730-11255 MT:7730-11255 MTC005 Mitochondrial Metabolism Disease COX2 NC_012920.1:m.7989T>C SNV Pathogenic 430690 rs1131692064 MT:7989-7989 MT:7989-7989 MTC005 Mitochondrial Metabolism Disease GFM2 NM_032380.5(GFM2):c.636del (p.Glu213fs) deletion Pathogenic 440787 rs746538436 5:74041963-74041963 5:74746138-74746138 MTC005 Mitochondrial Metabolism Disease GFM2 NM_032380.5(GFM2):c.275A>C (p.Tyr92Ser) SNV Pathogenic 440788 rs1554042187 5:74054703-74054703 5:74758878-74758878 MTC005 Mitochondrial Metabolism Disease TOP3A NM_004618.5(TOP3A):c.403C>T (p.Arg135Ter) SNV Pathogenic 446286 rs200944917 17:18208522-18208522 17:18305208-18305208 MTC005 Mitochondrial Metabolism Disease TOP3A NM_004618.5(TOP3A):c.298A>G (p.Met100Val) SNV Pathogenic 446285 rs376902371 17:18211681-18211681 17:18308367-18308367 MTC005 Mitochondrial Metabolism Disease NDUFA6 NM_002490.6(NDUFA6):c.331_332del (p.Glu111fs) deletion Pathogenic 487475 rs1569463838 22:42482242-42482243 22:42086238-42086239 MTC005 Mitochondrial Metabolism Disease NDUFA6 NM_002490.6(NDUFA6):c.265G>T (p.Glu89Ter) SNV Pathogenic 487478 rs758833609 22:42482309-42482309 22:42086305-42086305 MTC005 Mitochondrial Metabolism Disease NDUFA6 NM_002490.6(NDUFA6):c.191G>C (p.Arg64Pro) SNV Pathogenic 487477 rs750830935 22:42483128-42483128 22:42087124-42087124 MTC005 Mitochondrial Metabolism Disease NDUFA6 NM_002490.6(NDUFA6):c.3G>A (p.Met1Ile) SNV Pathogenic 487476 rs1023075742 22:42486746-42486746 22:42090742-42090742 MTC005 Mitochondrial Metabolism Disease ATP5F1D NM_001687.5(ATP5F1D):c.317T>G (p.Val106Gly) SNV Pathogenic 489386 rs1555745989 19:1244117-1244117 19:1244118-1244118 MTC005 Mitochondrial Metabolism Disease TWNK NM_021830.5(TWNK):c.1374G>T (p.Gln458His) SNV Pathogenic 426104 rs1554887213 10:102749531-102749531 10:100989774-100989774 MTC005 Mitochondrial Metabolism Disease TWNK NM_021830.5(TWNK):c.1391T>C (p.Leu464Pro) SNV Pathogenic 426105 rs1554887222 10:102749548-102749548 10:100989791-100989791 MTC005 Mitochondrial Metabolism Disease YARS2 NM_001040436.3(YARS2):c.1147_1164dup (p.Val383_Glu388dup) duplication Pathogenic 426099 rs775256289 12:32902980-32902981 12:32750046-32750047 MTC005 Mitochondrial Metabolism Disease YARS2 NM_001040436.3(YARS2):c.1106G>A (p.Cys369Tyr) SNV Pathogenic 426098 rs1365700579 12:32903039-32903039 12:32750105-32750105 MTC005 Mitochondrial Metabolism Disease POLG NM_002693.2(POLG):c.3550G>A (p.Asp1184Asn) SNV Pathogenic 426100 rs1131691575 15:89860700-89860700 15:89317469-89317469 MTC005 Mitochondrial Metabolism Disease GFER NM_005262.3(GFER):c.586C>T (p.Arg196Cys) SNV Pathogenic 426097 rs370475970 16:2035997-2035997 16:1985996-1985996 MTC005 Mitochondrial Metabolism Disease ND6 NC_012920.1:m.11263_15374del4112 deletion Pathogenic 430685 MT:11263-15374 MT:11263-15374 MTC005 Mitochondrial Metabolism Disease TRNE NC_012920.1:m.11263_15374del4112 deletion Pathogenic 430685 MT:11263-15374 MT:11263-15374 MTC005 Mitochondrial Metabolism Disease TRNH NC_012920.1:m.11263_15374del4112 deletion Pathogenic 430685 MT:11263-15374 MT:11263-15374 MTC005 Mitochondrial Metabolism Disease TRNL2 NC_012920.1:m.11263_15374del4112 deletion Pathogenic 430685 MT:11263-15374 MT:11263-15374 MTC005 Mitochondrial Metabolism Disease TRNS2 NC_012920.1:m.11263_15374del4112 deletion Pathogenic 430685 MT:11263-15374 MT:11263-15374 MTC005 Mitochondrial Metabolism Disease CYTB NC_012920.1:m.11263_15374del4112 deletion Pathogenic 430685 MT:11263-15374 MT:11263-15374 MTC005 Mitochondrial Metabolism Disease ND4 NC_012920.1:m.11263_15374del4112 deletion Pathogenic 430685 MT:11263-15374 MT:11263-15374 MTC005 Mitochondrial Metabolism Disease ND5 NC_012920.1:m.11263_15374del4112 deletion Pathogenic 430685 MT:11263-15374 MT:11263-15374 MTC005 Mitochondrial Metabolism Disease TRNH NC_012920.1:m.12114_14420del2307 deletion Pathogenic 430686 MT:12114-14420 MT:12114-14420 MTC005 Mitochondrial Metabolism Disease TRNL2 NC_012920.1:m.12114_14420del2307 deletion Pathogenic 430686 MT:12114-14420 MT:12114-14420 MTC005 Mitochondrial Metabolism Disease TRNS2 NC_012920.1:m.12114_14420del2307 deletion Pathogenic 430686 MT:12114-14420 MT:12114-14420 MTC005 Mitochondrial Metabolism Disease ND4 NC_012920.1:m.12114_14420del2307 deletion Pathogenic 430686 MT:12114-14420 MT:12114-14420 MTC005 Mitochondrial Metabolism Disease ND5 NC_012920.1:m.12114_14420del2307 deletion Pathogenic 430686 MT:12114-14420 MT:12114-14420 MTC005 Mitochondrial Metabolism Disease ND6 NC_012920.1:m.12114_14420del2307 deletion Pathogenic 430686 MT:12114-14420 MT:12114-14420 MTC005 Mitochondrial Metabolism Disease TRNL2 NC_012920.1:m.12271T>C SNV Pathogenic 430687 rs1131692061 MT:12271-12271 MT:12271-12271 MTC005 Mitochondrial Metabolism Disease TRNL2 NC_012920.1:m.12283G>A SNV Pathogenic 430688 rs1131692062 MT:12283-12283 MT:12283-12283 MTC005 Mitochondrial Metabolism Disease NDUFA6 NM_002490.6(NDUFA6):c.355del (p.Leu119fs) deletion Pathogenic 549666 rs781099275 22:42482219-42482219 22:42086215-42086215 MTC005 Mitochondrial Metabolism Disease NDUFA6 NM_002490.6(NDUFA6):c.309del (p.Met104fs) deletion Pathogenic 549665 rs763006208 22:42482265-42482265 22:42086261-42086261 MTC005 Mitochondrial Metabolism Disease OXA1L NM_005015.5(OXA1L):c.320_327dup (p.Ser110fs) duplication Pathogenic 560159 rs1566433812 14:23237259-23237260 14:22768050-22768051 MTC005 Mitochondrial Metabolism Disease OXA1L NM_005015.5(OXA1L):c.440G>T (p.Cys147Phe) SNV Pathogenic 560160 rs772751581 14:23239000-23239000 14:22769791-22769791 MTC005 Mitochondrial Metabolism Disease OPA1 NM_015560.2(OPA1):c.1198C>T (p.Pro400Ser) SNV Pathogenic 426101 rs1553877864 3:193361219-193361219 3:193643430-193643430 MTC005 Mitochondrial Metabolism Disease NDUFAF8 NM_001086521.2(NDUFAF8):c.1A>G (p.Met1Val) SNV Pathogenic 691643 17:79213164-79213164 17:81239364-81239364 MTC005 Mitochondrial Metabolism Disease NDUFAF8 NM_001086521.2(NDUFAF8):c.45_52dup (p.Phe18fs) duplication Pathogenic 691644 17:79213202-79213203 17:81239402-81239403 MTC005 Mitochondrial Metabolism Disease ND6 NC_012920.1:m.14513_14514del deletion Pathogenic 800503 MT:14512-14513 MT:14512-14513 MTC005 Mitochondrial Metabolism Disease ND1 NC_012920.1:m.3761C>A SNV Pathogenic 800504 MT:3761-3761 MT:3761-3761 MTC005 Mitochondrial Metabolism Disease TRNF NC_012920.1(MT-CYB):m.590A>G SNV Pathogenic 870573 MT:590-590 MT:590-590 MTC005 Mitochondrial Metabolism Disease TRNP NC_012920.1:m.15958A>T SNV Pathogenic 870596 MT:15958-15958 MT:15958-15958 MTC005 Mitochondrial Metabolism Disease TWNK NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr) SNV Pathogenic 4618 rs111033573 10:102749042-102749042 10:100989285-100989285 MTC005 Mitochondrial Metabolism Disease TWNK NM_021830.5(TWNK):c.1142T>C (p.Leu381Pro) SNV Pathogenic 4622 rs111033577 10:102749109-102749109 10:100989352-100989352 MTC005 Mitochondrial Metabolism Disease TWNK NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln) SNV Pathogenic 4623 rs28937887 10:102748968-102748968 10:100989211-100989211 MTC005 Mitochondrial Metabolism Disease OPA1 NM_015560.2(OPA1):c.2708_2711delTTAG deletion Pathogenic 5082 rs80356530 3:193384957-193384960 3:193667168-193667171 MTC005 Mitochondrial Metabolism Disease OPA1 NM_015560.2(OPA1):c.1334G>A (p.Arg445His) SNV Pathogenic 5091 rs80356529 3:193361785-193361785 3:193643996-193643996 MTC005 Mitochondrial Metabolism Disease TRNK m.8344A>G SNV Pathogenic 9579 rs118192098 MT:8344-8344 MT:8344-8344 MTC005 Mitochondrial Metabolism Disease TRNL1 NC_012920.1:m.3243A>G SNV Pathogenic 9589 rs199474657 MT:3243-3243 MT:3243-3243 MTC005 Mitochondrial Metabolism Disease ATP6 NC_012920.1:m.8993T>G SNV Pathogenic 9641 rs199476133 MT:8993-8993 MT:8993-8993 MTC005 Mitochondrial Metabolism Disease ATP6 NC_012920.1:m.8993T>C SNV Pathogenic 9642 rs199476133 MT:8993-8993 MT:8993-8993 MTC005 Mitochondrial Metabolism Disease ATP6 NC_012920.1:m.9185T>C SNV Pathogenic 9647 rs199476138 MT:9185-9185 MT:9185-9185 MTC005 Mitochondrial Metabolism Disease ND5 m.13513G>A SNV Pathogenic 9702 rs267606897 MT:13513-13513 MT:13513-13513 MTC005 Mitochondrial Metabolism Disease POLG NM_002693.2(POLG):c.2864A>G (p.Tyr955Cys) SNV Pathogenic 13495 rs113994099 15:89864114-89864114 15:89320883-89320883 MTC005 Mitochondrial Metabolism Disease POLG NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) SNV Pathogenic 13496 rs113994095 15:89870432-89870432 15:89327201-89327201 MTC005 Mitochondrial Metabolism Disease NDUFAF8 NM_001086521.2(NDUFAF8):c.195+271C>T SNV Pathogenic 691642 17:79213749-79213749 17:81239949-81239949 MTC005 Mitochondrial Metabolism Disease POLG NM_002693.2(POLG):c.3488T>G (p.Met1163Arg) SNV Pathogenic 21314 rs113994100 15:89860762-89860762 15:89317531-89317531 MTC005 Mitochondrial Metabolism Disease POLG NM_002693.2(POLG):c.3630dup (p.Gly1211fs) duplication Pathogenic 21315 rs113994101 15:89860619-89860620 15:89317388-89317389 MTC005 Mitochondrial Metabolism Disease POLG NM_002693.2(POLG):c.695G>A (p.Arg232His) SNV Pathogenic 21319 rs113994093 15:89873472-89873472 15:89330241-89330241 MTC005 Mitochondrial Metabolism Disease RRM2B NM_001172477.1(RRM2B):c.1166del (p.Ser388_Leu389insTer) deletion Pathogenic 30432 rs515726199 8:103220467-103220467 8:102208239-102208239 MTC005 Mitochondrial Metabolism Disease OPA1 NM_015560.2(OPA1):c.1294A>G (p.Ile432Val) SNV Pathogenic 30460 rs387906899 3:193361398-193361398 3:193643609-193643609 MTC005 Mitochondrial Metabolism Disease OPA1 NM_015560.2(OPA1):c.1635C>G (p.Ser545Arg) SNV Pathogenic 30461 rs398124298 3:193364899-193364899 3:193647110-193647110 MTC005 Mitochondrial Metabolism Disease RRM2B NM_001172477.1(RRM2B):c.-5G>A SNV Pathogenic 132103 rs515726180 8:103251055-103251055 8:102238827-102238827 MTC005 Mitochondrial Metabolism Disease RMND1 NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser) SNV Pathogenic 143051 rs115079861 6:151726371-151726371 6:151405236-151405236 MTC005 Mitochondrial Metabolism Disease ATP6 NC_012920.1:m.8839G>C SNV Pathogenic 155892 rs1556423547 MT:8839-8839 MT:8839-8839 MTC005 Mitochondrial Metabolism Disease SPG7 NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter) SNV Pathogenic 188276 rs369227537 16:89616910-89616910 16:89550502-89550502 MTC005 Mitochondrial Metabolism Disease SPG7 NM_003119.4(SPG7):c.861dup (p.Asn288Ter) duplication Pathogenic 212294 rs797046003 16:89595983-89595984 16:89529575-89529576 MTC005 Mitochondrial Metabolism Disease RMND1 NM_017909.4(RMND1):c.1250G>A (p.Arg417Gln) SNV Pathogenic 39765 rs397515421 6:151726922-151726922 6:151405787-151405787 MTC005 Mitochondrial Metabolism Disease TRMT10C NM_017819.4(TRMT10C):c.542G>T (p.Arg181Leu) SNV Pathogenic 224316 rs199730889 3:101284167-101284167 3:101565323-101565323 MTC005 Mitochondrial Metabolism Disease TRMT10C NM_017819.4(TRMT10C):c.814A>G (p.Thr272Ala) SNV Pathogenic 224317 rs875989831 3:101284439-101284439 3:101565595-101565595 MTC005 Mitochondrial Metabolism Disease RMND1 NM_017909.4(RMND1):c.1317+1G>T SNV Pathogenic 225259 rs886037773 6:151726854-151726854 6:151405719-151405719 MTC005 Mitochondrial Metabolism Disease RMND1 NM_017909.4(RMND1):c.1303C>T (p.Leu435Phe) SNV Pathogenic 225256 rs886037771 6:151726869-151726869 6:151405734-151405734 MTC005 Mitochondrial Metabolism Disease RMND1 NM_017909.4(RMND1):c.830+1G>A SNV Pathogenic 225261 rs773470671 6:151748616-151748616 6:151427481-151427481 MTC005 Mitochondrial Metabolism Disease RMND1 NM_017909.4(RMND1):c.631G>A (p.Val211Met) SNV Pathogenic 225260 rs771894262 6:151754348-151754348 6:151433213-151433213 MTC005 Mitochondrial Metabolism Disease RMND1 NM_017909.4(RMND1):c.565C>T (p.Gln189Ter) SNV Pathogenic 225257 rs886037772 6:151757629-151757629 6:151436494-151436494 MTC005 Mitochondrial Metabolism Disease RMND1 NM_017909.4(RMND1):c.533C>A (p.Thr178Lys) SNV Pathogenic 225258 rs370863743 6:151757661-151757661 6:151436526-151436526 MTC005 Mitochondrial Metabolism Disease TMEM126B NM_018480.5(TMEM126B):c.401del (p.Asn134fs) deletion Pathogenic 236208 rs886037835 11:85346713-85346713 11:85635669-85635669 MTC005 Mitochondrial Metabolism Disease SLC25A4 NM_001151.4(SLC25A4):c.239G>A (p.Arg80His) SNV Pathogenic 253037 rs886041081 4:186066045-186066045 4:185144891-185144891 MTC005 Mitochondrial Metabolism Disease SLC25A4 NM_001151.4(SLC25A4):c.703C>G (p.Arg235Gly) SNV Pathogenic 253038 rs886041082 4:186067017-186067017 4:185145863-185145863 MTC005 Mitochondrial Metabolism Disease TWNK NM_021830.5(TWNK):c.1121G>A (p.Arg374Gln) SNV Pathogenic/Likely pathogenic 426106 rs1554887097 10:102749088-102749088 10:100989331-100989331 MTC005 Mitochondrial Metabolism Disease POLG NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) SNV Pathogenic/Likely pathogenic 13513 rs121918054 15:89866691-89866691 15:89323460-89323460 MTC005 Mitochondrial Metabolism Disease TRNE m.14709T>C SNV Pathogenic/Likely pathogenic 9617 rs121434453 MT:14709-14709 MT:14709-14709 MTC005 Mitochondrial Metabolism Disease TRNE m.14674T>C SNV Pathogenic/Likely pathogenic 9618 rs387906421 MT:14674-14674 MT:14674-14674 MTC005 Mitochondrial Metabolism Disease COQ8A NM_020247.5(COQ8A):c.1029_1030delinsCA (p.Gln343_Val344delinsHisMet) indel Likely pathogenic 691646 1:227170684-227170685 1:226982983-226982984 MTC005 Mitochondrial Metabolism Disease COQ8A NC_000001.11:g.226978131_226982653del deletion Likely pathogenic 691645 MTC005 Mitochondrial Metabolism Disease NDUFAF8 NM_001086521.2(NDUFAF8):c.165C>G (p.Phe55Leu) SNV Likely pathogenic 691641 17:79213448-79213448 17:81239648-81239648 MTC005 Mitochondrial Metabolism Disease ND5 NC_012920.1:m.13051G>A SNV Likely pathogenic 430689 rs1131692063 MT:13051-13051 MT:13051-13051 MTC005 Mitochondrial Metabolism Disease ND4 NC_012920.1:m.11467A>G SNV Likely pathogenic 522716 rs2853493 MT:11467-11467 MT:11467-11467 MTC005 Mitochondrial Metabolism Disease ND5 NC_012920.1:m.12372G>A SNV Likely pathogenic 522717 rs2853499 MT:12372-12372 MT:12372-12372 MTC005 Mitochondrial Metabolism Disease COQ8A NM_020247.5(COQ8A):c.1015G>A (p.Ala339Thr) SNV Likely pathogenic 225002 rs755933881 1:227170670-227170670 1:226982969-226982969 MTC005 Mitochondrial Metabolism Disease GFM2 NM_032380.5(GFM2):c.569G>A (p.Arg190Gln) SNV Likely pathogenic 214509 rs761283105 5:74043556-74043556 5:74747731-74747731 MTC005 Mitochondrial Metabolism Disease GFER NM_005262.3(GFER):c.199del (p.Arg67fs) deletion Likely pathogenic 214476 rs863224028 16:2034416-2034416 16:1984415-1984415 MTC005 Mitochondrial Metabolism Disease POLG NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) SNV Conflicting interpretations of pathogenicity 65665 rs61752783 15:89870178-89870178 15:89326947-89326947 MTC005 Mitochondrial Metabolism Disease RMND1 NM_017909.4(RMND1):c.713A>G (p.Asn238Ser) SNV Conflicting interpretations of pathogenicity 225255 rs144972972 6:151751289-151751289 6:151430154-151430154 MTC005 Mitochondrial Metabolism Disease TRNP m.15923A>G SNV Conflicting interpretations of pathogenicity 39575 rs1556424691 MT:15923-15923 MT:15923-15923 MTC005 Mitochondrial Metabolism Disease TRNT m.15923A>G SNV Conflicting interpretations of pathogenicity 39575 rs1556424691 MT:15923-15923 MT:15923-15923 MTC005 Mitochondrial Metabolism Disease TWNK NM_021830.5(TWNK):c.1003C>A (p.Pro335Thr) SNV Conflicting interpretations of pathogenicity 426102 rs1554887028 10:102748970-102748970 10:100989213-100989213 MTC005 Mitochondrial Metabolism Disease SLC25A4 NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) SNV Conflicting interpretations of pathogenicity 18249 rs121912683 4:186066174-186066174 4:185145020-185145020 MTC005 Mitochondrial Metabolism Disease POLG NM_002693.2(POLG):c.970C>T (p.Pro324Ser) SNV Conflicting interpretations of pathogenicity 21320 rs2307437 15:89872227-89872227 15:89328996-89328996 MTC005 Mitochondrial Metabolism Disease POLG NM_002693.2(POLG):c.578G>A (p.Arg193Gln) SNV Conflicting interpretations of pathogenicity 21318 rs3176162 15:89876408-89876408 15:89333177-89333177 MTC005 Mitochondrial Metabolism Disease POLG NM_002693.2(POLG):c.3436C>T (p.Arg1146Cys) SNV Conflicting interpretations of pathogenicity 21313 rs2307440 15:89861818-89861818 15:89318587-89318587 MTC005 Mitochondrial Metabolism Disease POLG NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) SNV Conflicting interpretations of pathogenicity 13505 rs113994096 15:89868870-89868870 15:89325639-89325639 MTC005 Mitochondrial Metabolism Disease POLG NM_001126131.2(POLG):c.2243G>C (p.Trp748Ser) SNV Conflicting interpretations of pathogenicity 13507 rs113994097 15:89866657-89866657 15:89323426-89323426 MTC005 Mitochondrial Metabolism Disease POLG NM_002693.2(POLG):c.3424C>T (p.Arg1142Trp) SNV Uncertain significance 21311 rs2307442 15:89861830-89861830 15:89318599-89318599 MTC005 Mitochondrial Metabolism Disease ND2 NC_012920.1:m.4935A>G SNV Uncertain significance 692523 MT:4935-4935 MT:4935-4935 MTC005 Mitochondrial Metabolism Disease TRNL2 NC_012920.1(MT-CYB):m.12293G>A SNV Uncertain significance 690189 MT:12293-12293 MT:12293-12293 MTC005 Mitochondrial Metabolism Disease TRNI NC_012920.1(MT-CYB):m.4327T>C SNV Uncertain significance 689885 MT:4327-4327 MT:4327-4327 MTC005 Mitochondrial Metabolism Disease TRNN NC_012920.1(MT-CYB):m.5672T>C SNV Uncertain significance 689973 MT:5672-5672 MT:5672-5672 MTC005 Mitochondrial Metabolism Disease ATP6 NC_012920.1:m.9166T>C SNV Uncertain significance 370051 rs1057516063 MT:9166-9166 MT:9166-9166 MTC005 Mitochondrial Metabolism Disease TMEM126B NM_018480.5(TMEM126B):c.635G>T (p.Gly212Val) SNV Uncertain significance 236209 rs141542003 11:85347215-85347215 11:85636171-85636171 MTC005 Mitochondrial Metabolism Disease POLG NM_002693.2(POLG):c.1636C>T (p.Arg546Cys) SNV Benign/Likely benign 21309 rs2307447 15:89869919-89869919 15:89326688-89326688 MTC005 Mitochondrial Metabolism Disease FANCI NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) SNV Benign/Likely benign 21312 rs2307441 15:89861826-89861826 15:89318595-89318595 MTC005 Mitochondrial Metabolism Disease POLG NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) SNV Benign/Likely benign 21312 rs2307441 15:89861826-89861826 15:89318595-89318595 MTC005 Mitochondrial Metabolism Disease FANCI NM_002693.2(POLG):c.3708G>T (p.Gln1236His) SNV Benign/Likely benign 21316 rs3087374 15:89859994-89859994 15:89316763-89316763 MTC005 Mitochondrial Metabolism Disease POLG NM_002693.2(POLG):c.3708G>T (p.Gln1236His) SNV Benign/Likely benign 21316 rs3087374 15:89859994-89859994 15:89316763-89316763 MTC005 Mitochondrial Metabolism Disease POLG NM_002693.2(POLG):c.52C>T (p.Pro18Ser) SNV Benign 21317 rs3087373 15:89876934-89876934 15:89333703-89333703 MTC005 Mitochondrial Metabolism Disease POLG NM_002693.2(POLG):c.1984G>A (p.Glu662Lys) SNV Benign 21310 rs2307450 15:89867424-89867424 15:89324193-89324193 MTC005 Mitochondrial Metabolism Disease TRNW m.5521G>A SNV Pathogenic 9556 rs199474673 MT:5521-5521 MT:5521-5521 MTC133 Mitochondrial Myopathy TRNM m.4409T>C SNV Pathogenic 9578 rs118203884 MT:4409-4409 MT:4409-4409 MTC133 Mitochondrial Myopathy TRNL2 m.12320A>G SNV Pathogenic 9587 rs121434463 MT:12320-12320 MT:12320-12320 MTC133 Mitochondrial Myopathy TRNA m.5591G>A SNV Pathogenic 9625 rs121434458 MT:5591-5591 MT:5591-5591 MTC133 Mitochondrial Myopathy TRNA NC_012920.1:m.5610G>A SNV Pathogenic 162370 rs786200951 MT:5610-5610 MT:5610-5610 MTC133 Mitochondrial Myopathy TRNA NC_012920.1:m.5631G>A SNV Pathogenic 162369 rs786200950 MT:5631-5631 MT:5631-5631 MTC133 Mitochondrial Myopathy SLC25A42 NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp) SNV Pathogenic/Likely pathogenic 219191 rs864321624 19:19221599-19221599 19:19110790-19110790 MTC133 Mitochondrial Myopathy TRNE m.14709T>C SNV Pathogenic/Likely pathogenic 9617 rs121434453 MT:14709-14709 MT:14709-14709 MTC133 Mitochondrial Myopathy FDX2 NM_001031734.4(FDX2):c.431C>T (p.Pro144Leu) SNV Likely pathogenic 623644 rs888630930 19:10421292-10421292 19:10310616-10310616 MTC133 Mitochondrial Myopathy LARS2 NM_015340.4(LARS2):c.308G>A (p.Arg103His) SNV Likely pathogenic 691525 3:45441810-45441810 3:45400318-45400318 MTC133 Mitochondrial Myopathy SLC25A4 NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) SNV Conflicting interpretations of pathogenicity 18249 rs121912683 4:186066174-186066174 4:185145020-185145020 MTC133 Mitochondrial Myopathy LARS2 NM_015340.4(LARS2):c.1552G>A (p.Asp518Asn) SNV Conflicting interpretations of pathogenicity 226694 rs116826217 3:45537795-45537795 3:45496303-45496303 MTC133 Mitochondrial Myopathy CYTB NC_012920.1:m.15096T>C SNV Uncertain significance 370063 rs1057516073 MT:15096-15096 MT:15096-15096 MTC133 Mitochondrial Myopathy FDX2 NM_001031734.4(FDX2):c.10A>T (p.Met4Leu) SNV Uncertain significance 143059 rs587777600 19:10426672-10426672 19:10315996-10315996 MTC133 Mitochondrial Myopathy TRNL2 NC_012920.1(MT-CYB):m.12276G>A SNV Pathogenic 690181 MT:12276-12276 MT:12276-12276 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNE NC_012920.1(MT-CYB):m.14710G>A SNV Pathogenic 690207 MT:14710-14710 MT:14710-14710 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNE NC_012920.1(MT-CYB):m.14739G>A SNV Pathogenic 690211 MT:14739-14739 MT:14739-14739 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15915G>A SNV Pathogenic 690233 MT:15915-15915 MT:15915-15915 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNV NC_012920.1(MT-CYB):m.1644G>A SNV Pathogenic 689846 MT:1644-1644 MT:1644-1644 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL1 NC_012920.1(MT-CYB):m.3243A>T SNV Pathogenic 689856 MT:3243-3243 MT:3243-3243 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL1 NC_012920.1(MT-CYB):m.3255G>A SNV Pathogenic 689861 MT:3255-3255 MT:3255-3255 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL1 NC_012920.1(MT-CYB):m.3302A>G SNV Pathogenic 689871 MT:3302-3302 MT:3302-3302 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNI NC_012920.1(MT-CYB):m.4298G>A SNV Pathogenic 689874 MT:4298-4298 MT:4298-4298 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNW NC_012920.1(MT-CYB):m.5536_5537insT insertion Pathogenic 689929 MT:5536-5537 MT:5536-5537 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNW NC_012920.1(MT-CYB):m.5538G>A SNV Pathogenic 689930 MT:5538-5538 MT:5538-5538 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNW NC_012920.1(MT-CYB):m.5543T>C SNV Pathogenic 689935 MT:5543-5543 MT:5543-5543 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNW NC_012920.1(MT-CYB):m.5540G>A SNV Pathogenic 689933 MT:5540-5540 MT:5540-5540 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNK NC_012920.1(MT-CYB):m.8362T>G SNV Pathogenic 690084 MT:8362-8362 MT:8362-8362 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes ND5 NC_012920.1:m.13094T>C SNV Pathogenic 693516 MT:13094-13094 MT:13094-13094 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes ND1 NC_012920.1:m.3380G>A SNV Pathogenic 692346 MT:3380-3380 MT:3380-3380 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNV m.1606G>A SNV Pathogenic 9548 rs199476143 MT:1606-1606 MT:1606-1606 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNW m.5521G>A SNV Pathogenic 9556 rs199474673 MT:5521-5521 MT:5521-5521 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS1 m.7512T>C SNV Pathogenic 9562 rs199474817 MT:7512-7512 MT:7512-7512 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS1 NC_012920.1:m.7445A>G SNV Pathogenic 9563 rs199474818 MT:7445-7445 MT:7445-7445 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS1 m.7511T>C SNV Pathogenic 9566 rs199474821 MT:7511-7511 MT:7511-7511 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS1 m.7497G>A SNV Pathogenic 9569 rs387906419 MT:7497-7497 MT:7497-7497 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNP m.15967G>A SNV Pathogenic 9572 rs199474701 MT:15967-15967 MT:15967-15967 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNF m.583G>A SNV Pathogenic 9573 rs118203885 MT:583-583 MT:583-583 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNF m.616T>C SNV Pathogenic 9576 rs387906420 MT:616-616 MT:616-616 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNK m.8344A>G SNV Pathogenic 9579 rs118192098 MT:8344-8344 MT:8344-8344 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNK m.8356T>C SNV Pathogenic 9580 rs118192099 MT:8356-8356 MT:8356-8356 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNK m.8363G>A SNV Pathogenic 9581 rs118192100 MT:8363-8363 MT:8363-8363 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL2 m.12315G>A SNV Pathogenic 9586 rs121434462 MT:12315-12315 MT:12315-12315 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL1 NC_012920.1:m.3243A>G SNV Pathogenic 9589 rs199474657 MT:3243-3243 MT:3243-3243 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL1 m.3251A>G SNV Pathogenic 9595 rs199474662 MT:3251-3251 MT:3251-3251 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL1 m.3271T>C SNV Pathogenic 9590 rs199474658 MT:3271-3271 MT:3271-3271 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL1 m.3256C>T SNV Pathogenic 9591 rs199474659 MT:3256-3256 MT:3256-3256 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL1 m.3303C>T SNV Pathogenic 9592 rs199474660 MT:3303-3303 MT:3303-3303 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL1 m.3260A>G SNV Pathogenic 9596 rs199474663 MT:3260-3260 MT:3260-3260 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL1 m.3274A>G SNV Pathogenic 9598 rs199474666 MT:3274-3274 MT:3274-3274 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH m.12147G>A SNV Pathogenic 9610 rs121434474 MT:12147-12147 MT:12147-12147 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNQ m.4332G>A SNV Pathogenic 9616 rs199476141 MT:4332-4332 MT:4332-4332 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNN m.5728T>C SNV Pathogenic 9622 rs199476132 MT:5728-5728 MT:5728-5728 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNA m.5591G>A SNV Pathogenic 9625 rs121434458 MT:5591-5591 MT:5591-5591 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes ND5 m.12770A>G SNV Pathogenic 9699 rs267606894 MT:12770-12770 MT:12770-12770 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes ND5 m.13045A>C SNV Pathogenic 9700 rs267606895 MT:13045-13045 MT:13045-13045 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes ND5 m.13084A>T SNV Pathogenic 9701 rs267606896 MT:13084-13084 MT:13084-13084 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes ND5 m.13513G>A SNV Pathogenic 9702 rs267606897 MT:13513-13513 MT:13513-13513 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes ND5 m.13042G>A SNV Pathogenic 9703 rs267606898 MT:13042-13042 MT:13042-13042 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes ND1 m.3697G>A SNV Pathogenic 9733 rs199476122 MT:3697-3697 MT:3697-3697 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes ND1 m.3946G>A SNV Pathogenic 9734 rs199476123 MT:3946-3946 MT:3946-3946 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes ND1 m.3949T>C SNV Pathogenic 9735 rs199476124 MT:3949-3949 MT:3949-3949 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS1 m.7471_7472insC duplication Pathogenic 42226 rs111033319 MT:7465-7466 MT:7465-7466 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes ATP6 NC_012920.1:m.8969G>A SNV Pathogenic 191364 rs794726857 MT:8969-8969 MT:8969-8969 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL1 NC_012920.1:m.3291T>C SNV Pathogenic 223247 rs869312463 MT:3291-3291 MT:3291-3291 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNF m.586G>A SNV Pathogenic 30005 rs387906734 MT:586-586 MT:586-586 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes ND1 NC_012920.1:m.3481G>A SNV Pathogenic 155880 rs587776433 MT:3481-3481 MT:3481-3481 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNE m.14709T>C SNV Pathogenic/Likely pathogenic 9617 rs121434453 MT:14709-14709 MT:14709-14709 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNE m.14674T>C SNV Pathogenic/Likely pathogenic 9618 rs387906421 MT:14674-14674 MT:14674-14674 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes ND6 m.14453G>A SNV Likely pathogenic 9692 rs199476107 MT:14453-14453 MT:14453-14453 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNI m.4284G>A SNV Likely pathogenic 9604 rs121434468 MT:4284-4284 MT:4284-4284 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL1 m.3242G>A SNV Likely pathogenic 9600 rs193303018 MT:3242-3242 MT:3242-3242 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL1 m.3252A>G SNV Likely pathogenic 9594 rs199474661 MT:3252-3252 MT:3252-3252 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNV m.1624C>T SNV Likely pathogenic 9549 rs199476144 MT:1624-1624 MT:1624-1624 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes ND1 NC_012920.1:m.4142G>A SNV Likely pathogenic 692427 MT:4142-4142 MT:4142-4142 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes ND6 NC_012920.1:m.14465G>A SNV Likely pathogenic 693726 MT:14465-14465 MT:14465-14465 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNG NC_012920.1(MT-CYB):m.9997T>A SNV Likely pathogenic 690090 MT:9997-9997 MT:9997-9997 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes ND5 NC_012920.1:m.13046T>C SNV Likely pathogenic 693512 MT:13046-13046 MT:13046-13046 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNK NC_012920.1(MT-CYB):m.8319A>G SNV Likely pathogenic 690070 MT:8319-8319 MT:8319-8319 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes NDUFS1 NM_005006.7(NDUFS1):c.758T>G (p.Val253Gly) SNV Likely pathogenic 190449 rs786205666 2:207009730-207009730 2:206145006-206145006 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNF NC_012920.1(MT-CYB):m.578T>C SNV Likely pathogenic 689805 MT:578-578 MT:578-578 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNF NC_012920.1(MT-CYB):m.618T>C SNV Likely pathogenic 689818 MT:618-618 MT:618-618 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRND NC_012920.1(MT-CYB):m.7566G>A SNV Likely pathogenic 690050 MT:7566-7566 MT:7566-7566 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNK NC_012920.1(MT-CYB):m.8299G>A SNV Likely pathogenic 690063 MT:8299-8299 MT:8299-8299 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNM NC_012920.1(MT-CYB):m.4437C>T SNV Likely pathogenic 689913 MT:4437-4437 MT:4437-4437 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNI NC_012920.1(MT-CYB):m.4308G>A SNV Likely pathogenic 689875 MT:4308-4308 MT:4308-4308 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL1 NC_012920.1(MT-CYB):m.3288A>G SNV Likely pathogenic 689870 MT:3288-3288 MT:3288-3288 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNI NC_012920.1(MT-CYB):m.4296G>A SNV Likely pathogenic 689873 MT:4296-4296 MT:4296-4296 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNQ NC_012920.1(MT-CYB):m.4372C>T SNV Likely pathogenic 689895 MT:4372-4372 MT:4372-4372 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNV NC_012920.1(MT-CYB):m.1659T>C SNV Likely pathogenic 689852 MT:1659-1659 MT:1659-1659 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNV NC_012920.1(MT-CYB):m.1630A>G SNV Likely pathogenic 689840 MT:1630-1630 MT:1630-1630 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNP NC_012920.1(MT-CYB):m.16002T>C SNV Likely pathogenic 690271 MT:16002-16002 MT:16002-16002 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL2 NC_012920.1(MT-CYB):m.12335T>C SNV Likely pathogenic 690197 MT:12335-12335 MT:12335-12335 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS2 NC_012920.1(MT-CYB):m.12258C>T SNV Likely pathogenic 690177 MT:12258-12258 MT:12258-12258 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS2 NC_012920.1(MT-CYB):m.12264C>T SNV Likely pathogenic 690178 MT:12264-12264 MT:12264-12264 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNR NC_012920.1(MT-CYB):m.10406G>A SNV Likely pathogenic 690112 MT:10406-10406 MT:10406-10406 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNR NC_012920.1(MT-CYB):m.10408T>C SNV Likely pathogenic 690113 MT:10408-10408 MT:10408-10408 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNR NC_012920.1(MT-CYB):m.10460T>C SNV Likely pathogenic 690126 MT:10460-10460 MT:10460-10460 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH NC_012920.1(MT-CYB):m.12148T>C SNV Likely pathogenic 690133 MT:12148-12148 MT:12148-12148 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS2 SNV Conflicting interpretations of pathogenicity 440357 rs28359170 MT:12236-12236 MT:12236-12236 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNV NC_012920.1(MT-CYB):m.1619C>T SNV Conflicting interpretations of pathogenicity 618222 rs1569483811 MT:1619-1619 MT:1619-1619 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH SNV Conflicting interpretations of pathogenicity 376983 rs376606918 MT:12153-12153 MT:12153-12153 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH SNV Conflicting interpretations of pathogenicity 376964 rs1057520099 MT:12175-12175 MT:12175-12175 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNQ SNV Conflicting interpretations of pathogenicity 235438 rs375986475 MT:4388-4388 MT:4388-4388 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNQ m.4336T>C SNV Conflicting interpretations of pathogenicity 9615 rs41456348 MT:4336-4336 MT:4336-4336 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS1 NC_012920.1:m.7502C>T SNV Conflicting interpretations of pathogenicity 228859 rs876657868 MT:7502-7502 MT:7502-7502 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS1 m.7471delC deletion Conflicting interpretations of pathogenicity 42227 rs111033319 MT:7466-7466 MT:7466-7466 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNI m.4295A>G SNV Conflicting interpretations of pathogenicity 9603 rs121434467 MT:4295-4295 MT:4295-4295 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNC m.5814T>C SNV Conflicting interpretations of pathogenicity 30001 rs200077222 MT:5814-5814 MT:5814-5814 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH m.12201T>C SNV Uncertain significance 30004 rs387906733 MT:12201-12201 MT:12201-12201 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNI m.4290T>C SNV Uncertain significance 9605 rs121434469 MT:4290-4290 MT:4290-4290 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL1 m.3250T>C SNV Uncertain significance 9593 rs199474664 MT:3250-3250 MT:3250-3250 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNK NC_012920.1(MT-CYB):m.8340_8341insT insertion Uncertain significance 690074 MT:8340-8341 MT:8340-8341 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNK NC_012920.1(MT-CYB):m.8364A>T SNV Uncertain significance 690085 MT:8364-8364 MT:8364-8364 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNG NC_012920.1(MT-CYB):m.9993T>C SNV Uncertain significance 690087 MT:9993-9993 MT:9993-9993 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNK NC_012920.1(MT-CYB):m.8358A>G SNV Uncertain significance 690082 MT:8358-8358 MT:8358-8358 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNG NC_012920.1(MT-CYB):m.9996T>C SNV Uncertain significance 690089 MT:9996-9996 MT:9996-9996 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT m.15950G>A SNV Uncertain significance 9559 rs118203890 MT:15950-15950 MT:15950-15950 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNW NC_012920.1:m.5559A>G SNV Uncertain significance 155884 rs1556423008 MT:5559-5559 MT:5559-5559 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS1 NC_012920.1:m.7496T>C SNV Uncertain significance 370049 rs1057516061 MT:7496-7496 MT:7496-7496 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes CYTB NC_012920.1(MT-CYB):m.15437G>A SNV Uncertain significance 235525 rs878853058 MT:15437-15437 MT:15437-15437 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRND NC_012920.1(MT-CYB):m.7582C>T SNV Uncertain significance 690060 MT:7582-7582 MT:7582-7582 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNK NC_012920.1(MT-CYB):m.8301A>G SNV Uncertain significance 690065 MT:8301-8301 MT:8301-8301 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNK NC_012920.1(MT-CYB):m.8311T>A SNV Uncertain significance 690068 MT:8311-8311 MT:8311-8311 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRND NC_012920.1(MT-CYB):m.7568dup duplication Uncertain significance 690053 MT:7567-7568 MT:7567-7568 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRND NC_012920.1(MT-CYB):m.7562A>G SNV Uncertain significance 690049 MT:7562-7562 MT:7562-7562 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRND NC_012920.1(MT-CYB):m.7577T>C SNV Uncertain significance 690058 MT:7577-7577 MT:7577-7577 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRND NC_012920.1(MT-CYB):m.7555T>C SNV Uncertain significance 690046 MT:7555-7555 MT:7555-7555 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS1 NC_012920.1(MT-CYB):m.7499C>A SNV Uncertain significance 690033 MT:7499-7499 MT:7499-7499 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRND NC_012920.1(MT-CYB):m.7518A>G SNV Uncertain significance 690035 MT:7518-7518 MT:7518-7518 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRND NC_012920.1(MT-CYB):m.7520G>A SNV Uncertain significance 690036 MT:7520-7520 MT:7520-7520 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRND NC_012920.1(MT-CYB):m.7525T>C SNV Uncertain significance 690038 MT:7525-7525 MT:7525-7525 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRND NC_012920.1(MT-CYB):m.7538T>C SNV Uncertain significance 690041 MT:7538-7538 MT:7538-7538 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNF NC_012920.1(MT-CYB):m.643A>G SNV Uncertain significance 689830 MT:643-643 MT:643-643 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNY NC_012920.1(MT-CYB):m.5852T>C SNV Uncertain significance 690016 MT:5852-5852 MT:5852-5852 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS1 NC_012920.1(MT-CYB):m.7478G>A SNV Uncertain significance 690029 MT:7478-7478 MT:7478-7478 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS1 NC_012920.1(MT-CYB):m.7479G>A SNV Uncertain significance 690030 MT:7479-7479 MT:7479-7479 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS1 NC_012920.1(MT-CYB):m.7487C>T SNV Uncertain significance 690031 MT:7487-7487 MT:7487-7487 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNF NC_012920.1(MT-CYB):m.588T>C SNV Uncertain significance 689807 MT:588-588 MT:588-588 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNY NC_012920.1(MT-CYB):m.5885T>C SNV Uncertain significance 690024 MT:5885-5885 MT:5885-5885 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNY NC_012920.1(MT-CYB):m.5889A>G SNV Uncertain significance 690025 MT:5889-5889 MT:5889-5889 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNF NC_012920.1(MT-CYB):m.624C>T SNV Uncertain significance 689821 MT:624-624 MT:624-624 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNF NC_012920.1(MT-CYB):m.628C>T SNV Uncertain significance 689822 MT:628-628 MT:628-628 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNN NC_012920.1(MT-CYB):m.5693T>C SNV Uncertain significance 689976 MT:5693-5693 MT:5693-5693 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNF NC_012920.1(MT-CYB):m.579T>C SNV Uncertain significance 689806 MT:579-579 MT:579-579 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNC NC_012920.1(MT-CYB):m.5791G>A SNV Uncertain significance 689992 MT:5791-5791 MT:5791-5791 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNC NC_012920.1(MT-CYB):m.5793A>G SNV Uncertain significance 689993 MT:5793-5793 MT:5793-5793 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNC NC_012920.1(MT-CYB):m.5802T>C SNV Uncertain significance 689996 MT:5802-5802 MT:5802-5802 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNC NC_012920.1(MT-CYB):m.5804A>G SNV Uncertain significance 689997 MT:5804-5804 MT:5804-5804 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNC NC_012920.1(MT-CYB):m.5809G>A SNV Uncertain significance 690000 MT:5809-5809 MT:5809-5809 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNC NC_012920.1(MT-CYB):m.5819T>C SNV Uncertain significance 690004 MT:5819-5819 MT:5819-5819 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNY NC_012920.1(MT-CYB):m.5837G>A SNV Uncertain significance 690010 MT:5837-5837 MT:5837-5837 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNY NC_012920.1(MT-CYB):m.5840C>A SNV Uncertain significance 690012 MT:5840-5840 MT:5840-5840 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNY NC_012920.1(MT-CYB):m.5841T>C SNV Uncertain significance 690014 MT:5841-5841 MT:5841-5841 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNY NC_012920.1(MT-CYB):m.5858T>C SNV Uncertain significance 690018 MT:5858-5858 MT:5858-5858 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNY NC_012920.1(MT-CYB):m.5864G>A SNV Uncertain significance 690019 MT:5864-5864 MT:5864-5864 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNY NC_012920.1(MT-CYB):m.5865T>C SNV Uncertain significance 690020 MT:5865-5865 MT:5865-5865 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNA NC_012920.1(MT-CYB):m.5607T>C SNV Uncertain significance 689956 MT:5607-5607 MT:5607-5607 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNA NC_012920.1(MT-CYB):m.5609T>C SNV Uncertain significance 689958 MT:5609-5609 MT:5609-5609 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNA NC_012920.1(MT-CYB):m.5619G>A SNV Uncertain significance 689960 MT:5619-5619 MT:5619-5619 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNA NC_012920.1(MT-CYB):m.5645G>A SNV Uncertain significance 689964 MT:5645-5645 MT:5645-5645 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNA NC_012920.1(MT-CYB):m.5654T>C SNV Uncertain significance 689965 MT:5654-5654 MT:5654-5654 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNN NC_012920.1(MT-CYB):m.5661A>G SNV Uncertain significance 689967 MT:5661-5661 MT:5661-5661 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNN NC_012920.1(MT-CYB):m.5669G>A SNV Uncertain significance 689972 MT:5669-5669 MT:5669-5669 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNN NC_012920.1(MT-CYB):m.5672T>C SNV Uncertain significance 689973 MT:5672-5672 MT:5672-5672 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNN NC_012920.1(MT-CYB):m.5708C>A SNV Uncertain significance 689978 MT:5708-5708 MT:5708-5708 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNV NC_012920.1(MT-CYB):m.1643A>G SNV Uncertain significance 684496 MT:1643-1643 MT:1643-1643 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNG NC_012920.1(MT-CYB):m.10005A>T SNV Uncertain significance 690093 MT:10005-10005 MT:10005-10005 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNG NC_012920.1(MT-CYB):m.10008A>G SNV Uncertain significance 690096 MT:10008-10008 MT:10008-10008 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNG NC_012920.1(MT-CYB):m.10014G>A SNV Uncertain significance 690098 MT:10014-10014 MT:10014-10014 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNG NC_012920.1(MT-CYB):m.10015T>C SNV Uncertain significance 690099 MT:10015-10015 MT:10015-10015 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNG NC_012920.1(MT-CYB):m.10020T>C SNV Uncertain significance 690100 MT:10020-10020 MT:10020-10020 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNG NC_012920.1(MT-CYB):m.10027T>C SNV Uncertain significance 690101 MT:10027-10027 MT:10027-10027 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNG NC_012920.1(MT-CYB):m.10043del deletion Uncertain significance 690107 MT:10043-10043 MT:10043-10043 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH NC_012920.1(MT-CYB):m.12150T>C SNV Uncertain significance 690134 MT:12150-12150 MT:12150-12150 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH NC_012920.1(MT-CYB):m.12143T>C SNV Uncertain significance 690131 MT:12143-12143 MT:12143-12143 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH NC_012920.1(MT-CYB):m.12144A>G SNV Uncertain significance 690132 MT:12144-12144 MT:12144-12144 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH NC_012920.1(MT-CYB):m.12163A>G SNV Uncertain significance 690138 MT:12163-12163 MT:12163-12163 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNR NC_012920.1(MT-CYB):m.10462T>C SNV Uncertain significance 690127 MT:10462-10462 MT:10462-10462 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNG NC_012920.1(MT-CYB):m.10048A>G SNV Uncertain significance 690109 MT:10048-10048 MT:10048-10048 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNG NC_012920.1(MT-CYB):m.10055A>G SNV Uncertain significance 690110 MT:10055-10055 MT:10055-10055 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNR NC_012920.1(MT-CYB):m.10405T>C SNV Uncertain significance 690111 MT:10405-10405 MT:10405-10405 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNR NC_012920.1(MT-CYB):m.10457T>C SNV Uncertain significance 690125 MT:10457-10457 MT:10457-10457 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH NC_012920.1(MT-CYB):m.12173T>A SNV Uncertain significance 690144 MT:12173-12173 MT:12173-12173 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH NC_012920.1(MT-CYB):m.12184A>G SNV Uncertain significance 690148 MT:12184-12184 MT:12184-12184 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH NC_012920.1(MT-CYB):m.12185G>A SNV Uncertain significance 690149 MT:12185-12185 MT:12185-12185 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH NC_012920.1(MT-CYB):m.12176G>A SNV Uncertain significance 690145 MT:12176-12176 MT:12176-12176 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH NC_012920.1(MT-CYB):m.12202T>C SNV Uncertain significance 690155 MT:12202-12202 MT:12202-12202 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH NC_012920.1(MT-CYB):m.12204A>C SNV Uncertain significance 690156 MT:12204-12204 MT:12204-12204 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH NC_012920.1(MT-CYB):m.12205C>T SNV Uncertain significance 690157 MT:12205-12205 MT:12205-12205 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS2 NC_012920.1(MT-CYB):m.12213G>A SNV Uncertain significance 690158 MT:12213-12213 MT:12213-12213 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS2 NC_012920.1(MT-CYB):m.12247T>C SNV Uncertain significance 690173 MT:12247-12247 MT:12247-12247 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS2 NC_012920.1(MT-CYB):m.12250C>T SNV Uncertain significance 690175 MT:12250-12250 MT:12250-12250 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS2 NC_012920.1(MT-CYB):m.12255T>C SNV Uncertain significance 690176 MT:12255-12255 MT:12255-12255 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS2 NC_012920.1(MT-CYB):m.12230A>G SNV Uncertain significance 690164 MT:12230-12230 MT:12230-12230 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS2 NC_012920.1(MT-CYB):m.12218C>A SNV Uncertain significance 690162 MT:12218-12218 MT:12218-12218 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS2 NC_012920.1(MT-CYB):m.12241dup duplication Uncertain significance 690170 MT:12236-12237 MT:12236-12237 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNE NC_012920.1(MT-CYB):m.14681G>A SNV Uncertain significance 690198 MT:14681-14681 MT:14681-14681 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL2 NC_012920.1(MT-CYB):m.12302C>A SNV Uncertain significance 690191 MT:12302-12302 MT:12302-12302 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL2 NC_012920.1(MT-CYB):m.12302C>T SNV Uncertain significance 690192 MT:12302-12302 MT:12302-12302 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL2 NC_012920.1(MT-CYB):m.12278T>C SNV Uncertain significance 690182 MT:12278-12278 MT:12278-12278 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL2 NC_012920.1(MT-CYB):m.12291T>C SNV Uncertain significance 690188 MT:12291-12291 MT:12291-12291 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL2 NC_012920.1(MT-CYB):m.12293G>A SNV Uncertain significance 690189 MT:12293-12293 MT:12293-12293 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15921T>C SNV Uncertain significance 690235 MT:15921-15921 MT:15921-15921 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15909A>T SNV Uncertain significance 690229 MT:15909-15909 MT:15909-15909 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15888G>A SNV Uncertain significance 690212 MT:15888-15888 MT:15888-15888 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15890C>T SNV Uncertain significance 690214 MT:15890-15890 MT:15890-15890 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL2 NC_012920.1(MT-CYB):m.12318G>A SNV Uncertain significance 690196 MT:12318-12318 MT:12318-12318 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNE NC_012920.1(MT-CYB):m.14729T>C SNV Uncertain significance 690210 MT:14729-14729 MT:14729-14729 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15897G>A SNV Uncertain significance 690220 MT:15897-15897 MT:15897-15897 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNP NC_012920.1(MT-CYB):m.16003T>C SNV Uncertain significance 690272 MT:16003-16003 MT:16003-16003 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNP NC_012920.1(MT-CYB):m.16013A>G SNV Uncertain significance 690274 MT:16013-16013 MT:16013-16013 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNP NC_012920.1(MT-CYB):m.16018_16032dup duplication Uncertain significance 690276 MT:16015-16016 MT:16015-16016 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNP NC_012920.1(MT-CYB):m.15983T>C SNV Uncertain significance 690266 MT:15983-15983 MT:15983-15983 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNP NC_012920.1(MT-CYB):m.15984T>C SNV Uncertain significance 690267 MT:15984-15984 MT:15984-15984 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNP NC_012920.1(MT-CYB):m.15994A>G SNV Uncertain significance 690269 MT:15994-15994 MT:15994-15994 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNP NC_012920.1(MT-CYB):m.15995G>A SNV Uncertain significance 690270 MT:15995-15995 MT:15995-15995 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNP NC_012920.1(MT-CYB):m.15976T>C SNV Uncertain significance 690263 MT:15976-15976 MT:15976-15976 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNV NC_012920.1(MT-CYB):m.1631C>T SNV Uncertain significance 689841 MT:1631-1631 MT:1631-1631 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNV NC_012920.1(MT-CYB):m.1636A>G SNV Uncertain significance 689842 MT:1636-1636 MT:1636-1636 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNV NC_012920.1(MT-CYB):m.1638T>C SNV Uncertain significance 689843 MT:1638-1638 MT:1638-1638 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNP NC_012920.1(MT-CYB):m.16021C>T SNV Uncertain significance 690277 MT:16021-16021 MT:16021-16021 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNV NC_012920.1(MT-CYB):m.1608G>A SNV Uncertain significance 689834 MT:1608-1608 MT:1608-1608 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNV NC_012920.1(MT-CYB):m.1654T>C SNV Uncertain significance 689848 MT:1654-1654 MT:1654-1654 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNV NC_012920.1(MT-CYB):m.1619_1620insT insertion Uncertain significance 689837 MT:1619-1620 MT:1619-1620 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNV NC_012920.1(MT-CYB):m.1629A>G SNV Uncertain significance 689839 MT:1629-1629 MT:1629-1629 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNV NC_012920.1(MT-CYB):m.1641G>A SNV Uncertain significance 689845 MT:1641-1641 MT:1641-1641 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL1 NC_012920.1(MT-CYB):m.3248G>A SNV Uncertain significance 689857 MT:3248-3248 MT:3248-3248 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL1 NC_012920.1(MT-CYB):m.3252A>T SNV Uncertain significance 689858 MT:3252-3252 MT:3252-3252 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNV NC_012920.1(MT-CYB):m.1658T>C SNV Uncertain significance 689851 MT:1658-1658 MT:1658-1658 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL1 NC_012920.1(MT-CYB):m.3263C>T SNV Uncertain significance 689863 MT:3263-3263 MT:3263-3263 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL1 NC_012920.1(MT-CYB):m.3269A>G SNV Uncertain significance 689864 MT:3269-3269 MT:3269-3269 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL1 NC_012920.1(MT-CYB):m.3272T>C SNV Uncertain significance 689865 MT:3272-3272 MT:3272-3272 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNQ NC_012920.1(MT-CYB):m.4360G>A SNV Uncertain significance 689892 MT:4360-4360 MT:4360-4360 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNQ NC_012920.1(MT-CYB):m.4399T>C SNV Uncertain significance 689907 MT:4399-4399 MT:4399-4399 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNQ NC_012920.1(MT-CYB):m.4400A>G SNV Uncertain significance 689908 MT:4400-4400 MT:4400-4400 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNI NC_012920.1(MT-CYB):m.4264G>A SNV Uncertain significance 689872 MT:4264-4264 MT:4264-4264 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNI NC_012920.1(MT-CYB):m.4320C>A SNV Uncertain significance 689884 MT:4320-4320 MT:4320-4320 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNI NC_012920.1(MT-CYB):m.4320C>T SNV Uncertain significance 689883 MT:4320-4320 MT:4320-4320 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNI NC_012920.1(MT-CYB):m.4327T>C SNV Uncertain significance 689885 MT:4327-4327 MT:4327-4327 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNQ NC_012920.1(MT-CYB):m.4339G>A SNV Uncertain significance 689887 MT:4339-4339 MT:4339-4339 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNM NC_012920.1(MT-CYB):m.4451T>G SNV Uncertain significance 689914 MT:4451-4451 MT:4451-4451 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNM NC_012920.1(MT-CYB):m.4429G>A SNV Uncertain significance 689911 MT:4429-4429 MT:4429-4429 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNM NC_012920.1(MT-CYB):m.4455A>G SNV Uncertain significance 689918 MT:4455-4455 MT:4455-4455 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNM NC_012920.1(MT-CYB):m.4456C>T SNV Uncertain significance 689919 MT:4456-4456 MT:4456-4456 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNM NC_012920.1(MT-CYB):m.4466A>G SNV Uncertain significance 689921 MT:4466-4466 MT:4466-4466 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNW NC_012920.1(MT-CYB):m.5524T>C SNV Uncertain significance 689925 MT:5524-5524 MT:5524-5524 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNW NC_012920.1(MT-CYB):m.5542C>T SNV Uncertain significance 689934 MT:5542-5542 MT:5542-5542 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNW NC_012920.1(MT-CYB):m.5560G>A SNV Uncertain significance 689942 MT:5560-5560 MT:5560-5560 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNW NC_012920.1(MT-CYB):m.5573A>G SNV Uncertain significance 689947 MT:5573-5573 MT:5573-5573 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNW NC_012920.1(MT-CYB):m.5575T>C SNV Uncertain significance 689948 MT:5575-5575 MT:5575-5575 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNA NC_012920.1(MT-CYB):m.5590G>A SNV Uncertain significance 689949 MT:5590-5590 MT:5590-5590 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNW NC_012920.1(MT-CYB):m.5544T>C SNV Uncertain significance 689936 MT:5544-5544 MT:5544-5544 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNW NC_012920.1(MT-CYB):m.5550C>T SNV Uncertain significance 689937 MT:5550-5550 MT:5550-5550 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNW NC_012920.1(MT-CYB):m.5553T>G SNV Likely benign 689938 MT:5553-5553 MT:5553-5553 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNI NC_012920.1(MT-CYB):m.4318C>T SNV Likely benign 689882 MT:4318-4318 MT:4318-4318 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNW NC_012920.1(MT-CYB):m.5516A>G SNV Likely benign 689924 MT:5516-5516 MT:5516-5516 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNQ NC_012920.1(MT-CYB):m.4387C>T SNV Likely benign 689904 MT:4387-4387 MT:4387-4387 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNM NC_012920.1(MT-CYB):m.4417A>G SNV Likely benign 689909 MT:4417-4417 MT:4417-4417 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNQ NC_012920.1(MT-CYB):m.4384T>A SNV Likely benign 689900 MT:4384-4384 MT:4384-4384 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNQ NC_012920.1(MT-CYB):m.4385A>G SNV Likely benign 689902 MT:4385-4385 MT:4385-4385 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNI NC_012920.1(MT-CYB):m.4314del deletion Likely benign 689881 MT:4313-4313 MT:4313-4313 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNQ NC_012920.1(MT-CYB):m.4375C>T SNV Likely benign 689897 MT:4375-4375 MT:4375-4375 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL1 NC_012920.1(MT-CYB):m.3275C>A SNV Likely benign 689867 MT:3275-3275 MT:3275-3275 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL1 NC_012920.1(MT-CYB):m.3275C>G SNV Likely benign 689866 MT:3275-3275 MT:3275-3275 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL1 NC_012920.1(MT-CYB):m.3254C>T SNV Likely benign 689859 MT:3254-3254 MT:3254-3254 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL1 NC_012920.1(MT-CYB):m.3261A>G SNV Likely benign 689862 MT:3261-3261 MT:3261-3261 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNV NC_012920.1(MT-CYB):m.1628C>T SNV Likely benign 689838 MT:1628-1628 MT:1628-1628 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNV NC_012920.1(MT-CYB):m.1656del deletion Likely benign 689849 MT:1655-1655 MT:1655-1655 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNV NC_012920.1(MT-CYB):m.1617C>T SNV Likely benign 689835 MT:1617-1617 MT:1617-1617 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNV NC_012920.1(MT-CYB):m.1618A>G SNV Likely benign 689836 MT:1618-1618 MT:1618-1618 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNV NC_012920.1(MT-CYB):m.1640A>G SNV Likely benign 689844 MT:1640-1640 MT:1640-1640 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15952C>T SNV Likely benign 690260 MT:15952-15952 MT:15952-15952 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15944T>C SNV Likely benign 690255 MT:15944-15944 MT:15944-15944 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNP NC_012920.1(MT-CYB):m.15992A>T SNV Likely benign 690268 MT:15992-15992 MT:15992-15992 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNP NC_012920.1(MT-CYB):m.16011A>G SNV Likely benign 690273 MT:16011-16011 MT:16011-16011 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15925C>T SNV Likely benign 690237 MT:15925-15925 MT:15925-15925 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15937del deletion Likely benign 690245 MT:15934-15934 MT:15934-15934 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15936A>G SNV Likely benign 690244 MT:15936-15936 MT:15936-15936 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15937A>T SNV Likely benign 690246 MT:15937-15937 MT:15937-15937 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNE NC_012920.1(MT-CYB):m.14716C>T SNV Likely benign 690208 MT:14716-14716 MT:14716-14716 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNE NC_012920.1(MT-CYB):m.14691C>T SNV Likely benign 690203 MT:14691-14691 MT:14691-14691 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15893T>C SNV Likely benign 690217 MT:15893-15893 MT:15893-15893 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15895T>C SNV Likely benign 690219 MT:15895-15895 MT:15895-15895 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15909A>G SNV Likely benign 690228 MT:15909-15909 MT:15909-15909 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15911A>G SNV Likely benign 690230 MT:15911-15911 MT:15911-15911 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL2 NC_012920.1(MT-CYB):m.12279A>T SNV Likely benign 690184 MT:12279-12279 MT:12279-12279 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS2 NC_012920.1(MT-CYB):m.12231C>T SNV Likely benign 690165 MT:12231-12231 MT:12231-12231 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS2 NC_012920.1(MT-CYB):m.12265A>G SNV Likely benign 690179 MT:12265-12265 MT:12265-12265 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL2 NC_012920.1(MT-CYB):m.12273A>G SNV Likely benign 690180 MT:12273-12273 MT:12273-12273 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH NC_012920.1(MT-CYB):m.12181C>T SNV Likely benign 690147 MT:12181-12181 MT:12181-12181 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH NC_012920.1(MT-CYB):m.12196C>T SNV Likely benign 690154 MT:12196-12196 MT:12196-12196 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH NC_012920.1(MT-CYB):m.12160A>G SNV Likely benign 690136 MT:12160-12160 MT:12160-12160 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNR NC_012920.1(MT-CYB):m.10456A>G SNV Likely benign 690124 MT:10456-10456 MT:10456-10456 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH NC_012920.1(MT-CYB):m.12164G>A SNV Likely benign 690139 MT:12164-12164 MT:12164-12164 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNG NC_012920.1(MT-CYB):m.10040C>T SNV Likely benign 690105 MT:10040-10040 MT:10040-10040 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNR NC_012920.1(MT-CYB):m.10446A>G SNV Likely benign 690120 MT:10446-10446 MT:10446-10446 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNR NC_012920.1(MT-CYB):m.10448T>C SNV Likely benign 690121 MT:10448-10448 MT:10448-10448 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNR NC_012920.1(MT-CYB):m.10410T>A SNV Likely benign 690115 MT:10410-10410 MT:10410-10410 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNG NC_012920.1(MT-CYB):m.10013C>T SNV Likely benign 690097 MT:10013-10013 MT:10013-10013 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNW NC_012920.1:m.5561T>C SNV Likely benign 441156 rs1556423009 MT:5561-5561 MT:5561-5561 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNN NC_012920.1(MT-CYB):m.5662C>T SNV Likely benign 689968 MT:5662-5662 MT:5662-5662 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNW NC_012920.1(MT-CYB):m.5539A>T SNV Likely benign 689932 MT:5539-5539 MT:5539-5539 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNA NC_012920.1(MT-CYB):m.5640A>G SNV Likely benign 689963 MT:5640-5640 MT:5640-5640 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNA NC_012920.1(MT-CYB):m.5608C>T SNV Likely benign 689957 MT:5608-5608 MT:5608-5608 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNA NC_012920.1(MT-CYB):m.5604C>T SNV Likely benign 689954 MT:5604-5604 MT:5604-5604 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNW NC_012920.1(MT-CYB):m.5566A>G SNV Likely benign 689944 MT:5566-5566 MT:5566-5566 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNA NC_012920.1(MT-CYB):m.5600A>G SNV Likely benign 689951 MT:5600-5600 MT:5600-5600 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNY NC_012920.1(MT-CYB):m.5867C>T SNV Likely benign 690021 MT:5867-5867 MT:5867-5867 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNY NC_012920.1(MT-CYB):m.5875C>T SNV Likely benign 690022 MT:5875-5875 MT:5875-5875 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNY NC_012920.1(MT-CYB):m.5876A>G SNV Likely benign 690023 MT:5876-5876 MT:5876-5876 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNY NC_012920.1(MT-CYB):m.5840C>T SNV Likely benign 690013 MT:5840-5840 MT:5840-5840 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNC NC_012920.1(MT-CYB):m.5814T>A SNV Likely benign 690002 MT:5814-5814 MT:5814-5814 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNC NC_012920.1(MT-CYB):m.5800A>G SNV Likely benign 689995 MT:5800-5800 MT:5800-5800 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNC NC_012920.1(MT-CYB):m.5807A>G SNV Likely benign 689999 MT:5807-5807 MT:5807-5807 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNC NC_012920.1(MT-CYB):m.5786dup duplication Likely benign 689990 MT:5784-5785 MT:5784-5785 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNN NC_012920.1(MT-CYB):m.5705A>G SNV Likely benign 689977 MT:5705-5705 MT:5705-5705 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNF NC_012920.1(MT-CYB):m.629T>A SNV Likely benign 689824 MT:629-629 MT:629-629 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNF NC_012920.1(MT-CYB):m.595C>A SNV Likely benign 689811 MT:595-595 MT:595-595 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNF NC_012920.1(MT-CYB):m.595C>T SNV Likely benign 689812 MT:595-595 MT:595-595 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS1 NC_012920.1(MT-CYB):m.7460A>G SNV Likely benign 690026 MT:7460-7460 MT:7460-7460 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNF NC_012920.1(MT-CYB):m.621A>G SNV Likely benign 689820 MT:621-621 MT:621-621 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS1 NC_012920.1(MT-CYB):m.7471C>A SNV Likely benign 690028 MT:7471-7471 MT:7471-7471 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNY NC_012920.1(MT-CYB):m.5855A>G SNV Likely benign 690017 MT:5855-5855 MT:5855-5855 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNF NC_012920.1(MT-CYB):m.597_598insT insertion Likely benign 689815 MT:597-598 MT:597-598 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNF NC_012920.1(MT-CYB):m.603A>G SNV Likely benign 689816 MT:603-603 MT:603-603 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRND NC_012920.1(MT-CYB):m.7567C>T SNV Likely benign 690051 MT:7567-7567 MT:7567-7567 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRND NC_012920.1(MT-CYB):m.7546T>C SNV Likely benign 690043 MT:7546-7546 MT:7546-7546 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRND NC_012920.1(MT-CYB):m.7534C>T SNV Likely benign 690040 MT:7534-7534 MT:7534-7534 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRND NC_012920.1(MT-CYB):m.7552A>G SNV Likely benign 690045 MT:7552-7552 MT:7552-7552 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRND NC_012920.1(MT-CYB):m.7576A>G SNV Likely benign 690057 MT:7576-7576 MT:7576-7576 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRND NC_012920.1(MT-CYB):m.7585A>G SNV Likely benign 690061 MT:7585-7585 MT:7585-7585 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNK NC_012920.1(MT-CYB):m.8298T>C SNV Likely benign 690062 MT:8298-8298 MT:8298-8298 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNK NC_012920.1(MT-CYB):m.8300T>C SNV Likely benign 690064 MT:8300-8300 MT:8300-8300 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNG NC_012920.1:m.10046T>C SNV Likely benign 235011 rs876661357 MT:10046-10046 MT:10046-10046 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNK NC_012920.1(MT-CYB):m.8350A>G SNV Likely benign 690081 MT:8350-8350 MT:8350-8350 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNG NC_012920.1(MT-CYB):m.9995T>C SNV Likely benign 690088 MT:9995-9995 MT:9995-9995 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNG NC_012920.1(MT-CYB):m.9991A>G SNV Likely benign 690086 MT:9991-9991 MT:9991-9991 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNK NC_012920.1(MT-CYB):m.8346C>A SNV Likely benign 690077 MT:8346-8346 MT:8346-8346 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNK NC_012920.1(MT-CYB):m.8331A>G SNV Likely benign 690071 MT:8331-8331 MT:8331-8331 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNK NC_012920.1(MT-CYB):m.8315A>G SNV Likely benign 690069 MT:8315-8315 MT:8315-8315 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNK NC_012920.1(MT-CYB):m.8338A>G SNV Likely benign 690073 MT:8338-8338 MT:8338-8338 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNK NC_012920.1(MT-CYB):m.8348A>G SNV Benign/Likely benign 690079 MT:8348-8348 MT:8348-8348 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS1 m.7476C>T SNV Benign/Likely benign 42228 rs201950015 MT:7476-7476 MT:7476-7476 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNW NC_012920.1(MT-CYB):m.5553T>C SNV Benign/Likely benign 235498 rs878853053 MT:5553-5553 MT:5553-5553 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS1 m.7471C>T SNV Benign/Likely benign 42225 rs397515726 MT:7471-7471 MT:7471-7471 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS1 NC_012920.1:m.7472A>T SNV Benign/Likely benign 505297 rs1556423293 MT:7472-7472 MT:7472-7472 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNG NC_012920.1:m.10018A>G SNV Benign 440974 rs1556423757 MT:10018-10018 MT:10018-10018 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNG NC_012920.1(MT-CYB):m.10003T>C SNV Benign 690091 MT:10003-10003 MT:10003-10003 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNG NC_012920.1(MT-CYB):m.10005A>G SNV Benign 690092 MT:10005-10005 MT:10005-10005 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNG NC_012920.1(MT-CYB):m.10006A>G SNV Benign 690094 MT:10006-10006 MT:10006-10006 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNG NC_012920.1(MT-CYB):m.10007T>C SNV Benign 690095 MT:10007-10007 MT:10007-10007 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNG NC_012920.1(MT-CYB):m.10029A>G SNV Benign 690102 MT:10029-10029 MT:10029-10029 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNG NC_012920.1(MT-CYB):m.10031T>C SNV Benign 690103 MT:10031-10031 MT:10031-10031 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNG NC_012920.1(MT-CYB):m.10034T>C SNV Benign 690104 MT:10034-10034 MT:10034-10034 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNR NC_012920.1(MT-CYB):m.10410T>C SNV Benign 690114 MT:10410-10410 MT:10410-10410 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNR NC_012920.1(MT-CYB):m.10411A>G SNV Benign 690116 MT:10411-10411 MT:10411-10411 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNR NC_012920.1(MT-CYB):m.10420A>G SNV Benign 690117 MT:10420-10420 MT:10420-10420 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNR NC_012920.1(MT-CYB):m.10427G>A SNV Benign 690118 MT:10427-10427 MT:10427-10427 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNR NC_012920.1(MT-CYB):m.10440T>C SNV Benign 690119 MT:10440-10440 MT:10440-10440 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNR NC_012920.1(MT-CYB):m.10454T>C SNV Benign 690122 MT:10454-10454 MT:10454-10454 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNR NC_012920.1(MT-CYB):m.10455A>G SNV Benign 690123 MT:10455-10455 MT:10455-10455 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNG NC_012920.1(MT-CYB):m.10042A>G SNV Benign 690106 MT:10042-10042 MT:10042-10042 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNG NC_012920.1(MT-CYB):m.10045T>C SNV Benign 690108 MT:10045-10045 MT:10045-10045 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH NC_012920.1(MT-CYB):m.12166T>C SNV Benign 690140 MT:12166-12166 MT:12166-12166 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH NC_012920.1(MT-CYB):m.12171A>G SNV Benign 690141 MT:12171-12171 MT:12171-12171 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH NC_012920.1(MT-CYB):m.12172A>G SNV Benign 690142 MT:12172-12172 MT:12172-12172 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH NC_012920.1(MT-CYB):m.12151A>G SNV Benign 690135 MT:12151-12151 MT:12151-12151 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNR NC_012920.1(MT-CYB):m.10463T>C SNV Benign 690128 MT:10463-10463 MT:10463-10463 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH NC_012920.1(MT-CYB):m.12141A>G SNV Benign 690129 MT:12141-12141 MT:12141-12141 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH NC_012920.1(MT-CYB):m.12142A>G SNV Benign 690130 MT:12142-12142 MT:12142-12142 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH NC_012920.1(MT-CYB):m.12161T>C SNV Benign 690137 MT:12161-12161 MT:12161-12161 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH NC_012920.1(MT-CYB):m.12173T>C SNV Benign 690143 MT:12173-12173 MT:12173-12173 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH NC_012920.1(MT-CYB):m.12188T>C SNV Benign 690150 MT:12188-12188 MT:12188-12188 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH NC_012920.1(MT-CYB):m.12189T>C SNV Benign 690151 MT:12189-12189 MT:12189-12189 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH NC_012920.1(MT-CYB):m.12191C>T SNV Benign 690152 MT:12191-12191 MT:12191-12191 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH NC_012920.1(MT-CYB):m.12193A>G SNV Benign 690153 MT:12193-12193 MT:12193-12193 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH NC_012920.1(MT-CYB):m.12178C>T SNV Benign 690146 MT:12178-12178 MT:12178-12178 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS2 NC_012920.1(MT-CYB):m.12215T>C SNV Benign 690159 MT:12215-12215 MT:12215-12215 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS2 NC_012920.1(MT-CYB):m.12216C>T SNV Benign 690160 MT:12216-12216 MT:12216-12216 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS2 NC_012920.1(MT-CYB):m.12217A>G SNV Benign 690161 MT:12217-12217 MT:12217-12217 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS2 NC_012920.1(MT-CYB):m.12248A>G SNV Benign 690174 MT:12248-12248 MT:12248-12248 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS2 NC_012920.1(MT-CYB):m.12234A>G SNV Benign 690166 MT:12234-12234 MT:12234-12234 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS2 NC_012920.1(MT-CYB):m.12235T>C SNV Benign 690167 MT:12235-12235 MT:12235-12235 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS2 NC_012920.1(MT-CYB):m.12237C>T SNV Benign 690168 MT:12237-12237 MT:12237-12237 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS2 NC_012920.1(MT-CYB):m.12241del deletion Benign 690169 MT:12237-12237 MT:12237-12237 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS2 NC_012920.1(MT-CYB):m.12245T>C SNV Benign 690171 MT:12245-12245 MT:12245-12245 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS2 NC_012920.1(MT-CYB):m.12246C>T SNV Benign 690172 MT:12246-12246 MT:12246-12246 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS2 NC_012920.1(MT-CYB):m.12223A>G SNV Benign 690163 MT:12223-12223 MT:12223-12223 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL2 NC_012920.1(MT-CYB):m.12280A>G SNV Benign 690185 MT:12280-12280 MT:12280-12280 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL2 NC_012920.1(MT-CYB):m.12281C>T SNV Benign 690186 MT:12281-12281 MT:12281-12281 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL2 NC_012920.1(MT-CYB):m.12285T>C SNV Benign 690187 MT:12285-12285 MT:12285-12285 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL2 NC_012920.1(MT-CYB):m.12295T>C SNV Benign 690190 MT:12295-12295 MT:12295-12295 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL2 NC_012920.1(MT-CYB):m.12279A>G SNV Benign 690183 MT:12279-12279 MT:12279-12279 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL2 NC_012920.1(MT-CYB):m.12310dup duplication Benign 690194 MT:12305-12306 MT:12305-12306 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL2 NC_012920.1(MT-CYB):m.12308A>G SNV Benign 690193 MT:12308-12308 MT:12308-12308 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL2 NC_012920.1(MT-CYB):m.12311T>C SNV Benign 690195 MT:12311-12311 MT:12311-12311 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNE NC_012920.1(MT-CYB):m.14683A>G SNV Benign 690199 MT:14683-14683 MT:14683-14683 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNE NC_012920.1(MT-CYB):m.14684C>T SNV Benign 690200 MT:14684-14684 MT:14684-14684 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNE NC_012920.1(MT-CYB):m.14687A>G SNV Benign 690201 MT:14687-14687 MT:14687-14687 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNE NC_012920.1(MT-CYB):m.14690A>G SNV Benign 690202 MT:14690-14690 MT:14690-14690 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15913C>T SNV Benign 690231 MT:15913-15913 MT:15913-15913 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15914A>G SNV Benign 690232 MT:15914-15914 MT:15914-15914 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15924A>G SNV Benign 690236 MT:15924-15924 MT:15924-15924 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15916T>C SNV Benign 690234 MT:15916-15916 MT:15916-15916 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15894G>A SNV Benign 690218 MT:15894-15894 MT:15894-15894 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15891C>T SNV Benign 690215 MT:15891-15891 MT:15891-15891 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15892T>C SNV Benign 690216 MT:15892-15892 MT:15892-15892 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15889T>C SNV Benign 690213 MT:15889-15889 MT:15889-15889 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNE NC_012920.1(MT-CYB):m.14693A>G SNV Benign 690204 MT:14693-14693 MT:14693-14693 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNE NC_012920.1(MT-CYB):m.14696A>C SNV Benign 690206 MT:14696-14696 MT:14696-14696 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNE NC_012920.1(MT-CYB):m.14696A>G SNV Benign 690205 MT:14696-14696 MT:14696-14696 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNE NC_012920.1(MT-CYB):m.14727T>C SNV Benign 690209 MT:14727-14727 MT:14727-14727 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15900T>C SNV Benign 690221 MT:15900-15900 MT:15900-15900 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15902A>G SNV Benign 690222 MT:15902-15902 MT:15902-15902 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15903A>G SNV Benign 690223 MT:15903-15903 MT:15903-15903 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15904C>T SNV Benign 690224 MT:15904-15904 MT:15904-15904 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15905T>C SNV Benign 690225 MT:15905-15905 MT:15905-15905 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15907A>G SNV Benign 690226 MT:15907-15907 MT:15907-15907 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15908T>C SNV Benign 690227 MT:15908-15908 MT:15908-15908 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15938C>T SNV Benign 690248 MT:15938-15938 MT:15938-15938 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15939C>T SNV Benign 690249 MT:15939-15939 MT:15939-15939 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15940T>C SNV Benign 690250 MT:15940-15940 MT:15940-15940 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15944del deletion Benign 690251 MT:15940-15940 MT:15940-15940 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15944dup duplication Benign 690254 MT:15939-15940 MT:15939-15940 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15941T>C SNV Benign 690252 MT:15941-15941 MT:15941-15941 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15942T>C SNV Benign 690253 MT:15942-15942 MT:15942-15942 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15936A>T SNV Benign 690243 MT:15936-15936 MT:15936-15936 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15937A>G SNV Benign 690247 MT:15937-15937 MT:15937-15937 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15935A>G SNV Benign 690242 MT:15935-15935 MT:15935-15935 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15926C>T SNV Benign 690238 MT:15926-15926 MT:15926-15926 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15929A>G SNV Benign 690239 MT:15929-15929 MT:15929-15929 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15930G>A SNV Benign 690240 MT:15930-15930 MT:15930-15930 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15932T>C SNV Benign 690241 MT:15932-15932 MT:15932-15932 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNP NC_012920.1(MT-CYB):m.16017T>C SNV Benign 690275 MT:16017-16017 MT:16017-16017 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15946C>T SNV Benign 690256 MT:15946-15946 MT:15946-15946 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15947A>G SNV Benign 690257 MT:15947-15947 MT:15947-15947 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15949G>A SNV Benign 690258 MT:15949-15949 MT:15949-15949 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1(MT-CYB):m.15951A>G SNV Benign 690259 MT:15951-15951 MT:15951-15951 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNP NC_012920.1(MT-CYB):m.15968T>C SNV Benign 690261 MT:15968-15968 MT:15968-15968 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNP NC_012920.1(MT-CYB):m.15970T>C SNV Benign 690262 MT:15970-15970 MT:15970-15970 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNP NC_012920.1(MT-CYB):m.15977C>T SNV Benign 690264 MT:15977-15977 MT:15977-15977 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNP NC_012920.1(MT-CYB):m.15978C>T SNV Benign 690265 MT:15978-15978 MT:15978-15978 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNV NC_012920.1(MT-CYB):m.1607T>C SNV Benign 689833 MT:1607-1607 MT:1607-1607 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNV NC_012920.1(MT-CYB):m.1657C>T SNV Benign 689850 MT:1657-1657 MT:1657-1657 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNV NC_012920.1(MT-CYB):m.1646T>C SNV Benign 689847 MT:1646-1646 MT:1646-1646 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL1 NC_012920.1(MT-CYB):m.3277G>A SNV Benign 689868 MT:3277-3277 MT:3277-3277 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL1 NC_012920.1(MT-CYB):m.3278T>C SNV Benign 689869 MT:3278-3278 MT:3278-3278 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL1 NC_012920.1(MT-CYB):m.3254C>A SNV Benign 689860 MT:3254-3254 MT:3254-3254 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNV NC_012920.1(MT-CYB):m.1664G>A SNV Benign 689853 MT:1664-1664 MT:1664-1664 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNV NC_012920.1(MT-CYB):m.1670A>T SNV Benign 689854 MT:1670-1670 MT:1670-1670 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL1 NC_012920.1(MT-CYB):m.3236A>G SNV Benign 689855 MT:3236-3236 MT:3236-3236 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNQ NC_012920.1(MT-CYB):m.4381A>G SNV Benign 689898 MT:4381-4381 MT:4381-4381 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNQ NC_012920.1(MT-CYB):m.4373T>C SNV Benign 689896 MT:4373-4373 MT:4373-4373 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNI NC_012920.1(MT-CYB):m.4314T>A SNV Benign 689880 MT:4314-4314 MT:4314-4314 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNI NC_012920.1(MT-CYB):m.4314T>C SNV Benign 689879 MT:4314-4314 MT:4314-4314 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNQ NC_012920.1(MT-CYB):m.4370T>C SNV Benign 689893 MT:4370-4370 MT:4370-4370 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNQ NC_012920.1(MT-CYB):m.4371T>C SNV Benign 689894 MT:4371-4371 MT:4371-4371 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNQ NC_012920.1(MT-CYB):m.4385A>T SNV Benign 689901 MT:4385-4385 MT:4385-4385 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNQ NC_012920.1(MT-CYB):m.4386T>C SNV Benign 689903 MT:4386-4386 MT:4386-4386 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNQ NC_012920.1(MT-CYB):m.4384T>C SNV Benign 689899 MT:4384-4384 MT:4384-4384 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNM NC_012920.1(MT-CYB):m.4418T>C SNV Benign 689910 MT:4418-4418 MT:4418-4418 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNQ NC_012920.1(MT-CYB):m.4340A>G SNV Benign 689888 MT:4340-4340 MT:4340-4340 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNQ NC_012920.1(MT-CYB):m.4343A>G SNV Benign 689889 MT:4343-4343 MT:4343-4343 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNQ NC_012920.1(MT-CYB):m.4350C>T SNV Benign 689890 MT:4350-4350 MT:4350-4350 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNQ NC_012920.1(MT-CYB):m.4353T>C SNV Benign 689891 MT:4353-4353 MT:4353-4353 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNQ NC_012920.1(MT-CYB):m.4335C>T SNV Benign 689886 MT:4335-4335 MT:4335-4335 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNI NC_012920.1(MT-CYB):m.4310A>G SNV Benign 689876 MT:4310-4310 MT:4310-4310 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNI NC_012920.1(MT-CYB):m.4312C>T SNV Benign 689877 MT:4312-4312 MT:4312-4312 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNI NC_012920.1(MT-CYB):m.4313T>C SNV Benign 689878 MT:4313-4313 MT:4313-4313 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNQ NC_012920.1(MT-CYB):m.4394C>A SNV Benign 689905 MT:4394-4394 MT:4394-4394 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNQ NC_012920.1(MT-CYB):m.4395A>G SNV Benign 689906 MT:4395-4395 MT:4395-4395 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNM NC_012920.1(MT-CYB):m.4435A>G SNV Benign 689912 MT:4435-4435 MT:4435-4435 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNM NC_012920.1(MT-CYB):m.4452T>C SNV Benign 689915 MT:4452-4452 MT:4452-4452 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNM NC_012920.1(MT-CYB):m.4454T>A SNV Benign 689917 MT:4454-4454 MT:4454-4454 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNM NC_012920.1(MT-CYB):m.4454T>C SNV Benign 689916 MT:4454-4454 MT:4454-4454 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNW NC_012920.1(MT-CYB):m.5527A>G SNV Benign 689926 MT:5527-5527 MT:5527-5527 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNW NC_012920.1(MT-CYB):m.5528T>C SNV Benign 689927 MT:5528-5528 MT:5528-5528 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNW NC_012920.1(MT-CYB):m.5530C>T SNV Benign 689928 MT:5530-5530 MT:5530-5530 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNW NC_012920.1(MT-CYB):m.5514A>G SNV Benign 689922 MT:5514-5514 MT:5514-5514 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNW NC_012920.1(MT-CYB):m.5515A>G SNV Benign 689923 MT:5515-5515 MT:5515-5515 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNM NC_012920.1(MT-CYB):m.4464G>A SNV Benign 689920 MT:4464-4464 MT:4464-4464 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNW NC_012920.1(MT-CYB):m.5539A>G SNV Benign 689931 MT:5539-5539 MT:5539-5539 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNW NC_012920.1(MT-CYB):m.5554C>A SNV Benign 689939 MT:5554-5554 MT:5554-5554 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNW NC_012920.1(MT-CYB):m.5557T>C SNV Benign 689940 MT:5557-5557 MT:5557-5557 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNW NC_012920.1(MT-CYB):m.5558A>G SNV Benign 689941 MT:5558-5558 MT:5558-5558 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNA NC_012920.1(MT-CYB):m.5592A>G SNV Benign 689950 MT:5592-5592 MT:5592-5592 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNW NC_012920.1(MT-CYB):m.5563G>A SNV Benign 689943 MT:5563-5563 MT:5563-5563 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS1 m.7468C>T SNV Benign 42224 rs111033173 MT:7468-7468 MT:7468-7468 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNE NC_012920.1:m.14706A>G SNV Benign 370060 rs1057516070 MT:14706-14706 MT:14706-14706 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL1 NC_012920.1:m.3275C>T SNV Benign 370045 rs1057516057 MT:3275-3275 MT:3275-3275 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS1 m.7493C>T SNV Benign 42229 rs397515728 MT:7493-7493 MT:7493-7493 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS1 m.7498G>A SNV Benign 42230 rs111033324 MT:7498-7498 MT:7498-7498 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1:m.15927G>A SNV Benign 143902 rs193303002 MT:15927-15927 MT:15927-15927 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1:m.15928G>A SNV Benign 143903 rs527236198 MT:15928-15928 MT:15928-15928 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNT NC_012920.1:m.15943T>C SNV Benign 143905 rs527236200 MT:15943-15943 MT:15943-15943 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNI NC_012920.1:m.4277T>C SNV Benign 235012 rs876661358 MT:4277-4277 MT:4277-4277 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNI NC_012920.1:m.4316A>G SNV Benign 235014 rs876661360 MT:4316-4316 MT:4316-4316 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNI NC_012920.1:m.4317delA deletion Benign 235015 rs876661361 MT:4315-4315 MT:4315-4315 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNQ NC_012920.1:m.4363T>C SNV Benign 235017 rs200009705 MT:4363-4363 MT:4363-4363 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS2 NC_012920.1(MT-CYB):m.12239C>T SNV Benign 235361 rs376062400 MT:12239-12239 MT:12239-12239 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNK NC_012920.1(MT-CYB):m.8349C>T SNV Benign 690080 MT:8349-8349 MT:8349-8349 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNK NC_012920.1(MT-CYB):m.8360A>G SNV Benign 690083 MT:8360-8360 MT:8360-8360 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNK NC_012920.1(MT-CYB):m.8337T>C SNV Benign 690072 MT:8337-8337 MT:8337-8337 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNK NC_012920.1(MT-CYB):m.8347A>G SNV Benign 690078 MT:8347-8347 MT:8347-8347 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNK NC_012920.1(MT-CYB):m.8343A>G SNV Benign 690075 MT:8343-8343 MT:8343-8343 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNK NC_012920.1(MT-CYB):m.8345C>T SNV Benign 690076 MT:8345-8345 MT:8345-8345 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNY m.5843A>G SNV Benign 9553 rs118203894 MT:5843-5843 MT:5843-5843 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNP m.15965A>G SNV Benign 9571 rs199474700 MT:15965-15965 MT:15965-15965 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL2 m.12297T>C SNV Benign 9588 rs121434464 MT:12297-12297 MT:12297-12297 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNK m.8296A>G SNV Benign 9584 rs118192102 MT:8296-8296 MT:8296-8296 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNI m.4317A>G SNV Benign 9601 rs121434465 MT:4317-4317 MT:4317-4317 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNL1 m.3290T>C SNV Benign 9597 rs199474665 MT:3290-3290 MT:3290-3290 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNH m.12192G>A SNV Benign 9608 rs3134560 MT:12192-12192 MT:12192-12192 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNG m.10044A>G SNV Benign 9613 rs41362547 MT:10044-10044 MT:10044-10044 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes ND4 m.11084A>G SNV Benign 9709 rs199476113 MT:11084-11084 MT:11084-11084 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNK NC_012920.1(MT-CYB):m.8311T>C SNV Benign 690067 MT:8311-8311 MT:8311-8311 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNK NC_012920.1(MT-CYB):m.8308A>G SNV Benign 690066 MT:8308-8308 MT:8308-8308 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRND NC_012920.1(MT-CYB):m.7581T>C SNV Benign 690059 MT:7581-7581 MT:7581-7581 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRND NC_012920.1(MT-CYB):m.7569A>G SNV Benign 690054 MT:7569-7569 MT:7569-7569 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRND NC_012920.1(MT-CYB):m.7570A>G SNV Benign 690055 MT:7570-7570 MT:7570-7570 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRND NC_012920.1(MT-CYB):m.7572T>C SNV Benign 690056 MT:7572-7572 MT:7572-7572 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRND NC_012920.1(MT-CYB):m.7547T>C SNV Benign 690044 MT:7547-7547 MT:7547-7547 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRND NC_012920.1(MT-CYB):m.7568T>C SNV Benign 690052 MT:7568-7568 MT:7568-7568 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRND NC_012920.1(MT-CYB):m.7559A>G SNV Benign 690047 MT:7559-7559 MT:7559-7559 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRND NC_012920.1(MT-CYB):m.7561T>C SNV Benign 690048 MT:7561-7561 MT:7561-7561 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRND NC_012920.1(MT-CYB):m.7543A>G SNV Benign 690042 MT:7543-7543 MT:7543-7543 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRND NC_012920.1(MT-CYB):m.7533C>T SNV Benign 690039 MT:7533-7533 MT:7533-7533 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRND NC_012920.1(MT-CYB):m.7521G>A SNV Benign 690037 MT:7521-7521 MT:7521-7521 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS1 NC_012920.1(MT-CYB):m.7501T>C SNV Benign 690034 MT:7501-7501 MT:7501-7501 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNF NC_012920.1(MT-CYB):m.606A>G SNV Benign 689817 MT:606-606 MT:606-606 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNF NC_012920.1(MT-CYB):m.644A>G SNV Benign 689831 MT:644-644 MT:644-644 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNF NC_012920.1(MT-CYB):m.647A>G SNV Benign 689832 MT:647-647 MT:647-647 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNF NC_012920.1(MT-CYB):m.619T>C SNV Benign 689819 MT:619-619 MT:619-619 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS1 NC_012920.1(MT-CYB):m.7469C>T SNV Benign 690027 MT:7469-7469 MT:7469-7469 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNS1 NC_012920.1(MT-CYB):m.7490A>G SNV Benign 690032 MT:7490-7490 MT:7490-7490 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNF NC_012920.1(MT-CYB):m.596T>C SNV Benign 689813 MT:596-596 MT:596-596 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNF NC_012920.1(MT-CYB):m.597C>T SNV Benign 689814 MT:597-597 MT:597-597 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNF NC_012920.1(MT-CYB):m.592C>T SNV Benign 689808 MT:592-592 MT:592-592 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNF NC_012920.1(MT-CYB):m.593T>C SNV Benign 689809 MT:593-593 MT:593-593 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNF NC_012920.1(MT-CYB):m.595dup duplication Benign 689810 MT:593-594 MT:593-594 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNF NC_012920.1(MT-CYB):m.629T>C SNV Benign 689823 MT:629-629 MT:629-629 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNF NC_012920.1(MT-CYB):m.630C>T SNV Benign 689825 MT:630-630 MT:630-630 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNF NC_012920.1(MT-CYB):m.633A>G SNV Benign 689826 MT:633-633 MT:633-633 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNF NC_012920.1(MT-CYB):m.634T>A SNV Benign 689827 MT:634-634 MT:634-634 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNF NC_012920.1(MT-CYB):m.634T>C SNV Benign 689828 MT:634-634 MT:634-634 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNF NC_012920.1(MT-CYB):m.635C>T SNV Benign 689829 MT:635-635 MT:635-635 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNC NC_012920.1(MT-CYB):m.5783G>A SNV Benign 689987 MT:5783-5783 MT:5783-5783 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNC NC_012920.1(MT-CYB):m.5785T>C SNV Benign 689988 MT:5785-5785 MT:5785-5785 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNC NC_012920.1(MT-CYB):m.5794T>C SNV Benign 689994 MT:5794-5794 MT:5794-5794 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNC NC_012920.1(MT-CYB):m.5786T>C SNV Benign 689989 MT:5786-5786 MT:5786-5786 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNC NC_012920.1(MT-CYB):m.5788T>C SNV Benign 689991 MT:5788-5788 MT:5788-5788 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNC NC_012920.1(MT-CYB):m.5806T>C SNV Benign 689998 MT:5806-5806 MT:5806-5806 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNC NC_012920.1(MT-CYB):m.5811A>G SNV Benign 690001 MT:5811-5811 MT:5811-5811 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNC NC_012920.1(MT-CYB):m.5817C>T SNV Benign 690003 MT:5817-5817 MT:5817-5817 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNY NC_012920.1(MT-CYB):m.5839C>T SNV Benign 690011 MT:5839-5839 MT:5839-5839 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNC NC_012920.1(MT-CYB):m.5821G>A SNV Benign 690005 MT:5821-5821 MT:5821-5821 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNC NC_012920.1(MT-CYB):m.5822G>A SNV Benign 690006 MT:5822-5822 MT:5822-5822 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNC NC_012920.1(MT-CYB):m.5823A>G SNV Benign 690007 MT:5823-5823 MT:5823-5823 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNC NC_012920.1(MT-CYB):m.5824G>A SNV Benign 690008 MT:5824-5824 MT:5824-5824 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNY NC_012920.1(MT-CYB):m.5836A>G SNV Benign 690009 MT:5836-5836 MT:5836-5836 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNY NC_012920.1(MT-CYB):m.5846C>T SNV Benign 690015 MT:5846-5846 MT:5846-5846 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNA NC_012920.1(MT-CYB):m.5601C>T SNV Benign 689952 MT:5601-5601 MT:5601-5601 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNA NC_012920.1(MT-CYB):m.5603C>T SNV Benign 689953 MT:5603-5603 MT:5603-5603 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNW NC_012920.1(MT-CYB):m.5567T>C SNV Benign 689945 MT:5567-5567 MT:5567-5567 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNW NC_012920.1(MT-CYB):m.5568A>G SNV Benign 689946 MT:5568-5568 MT:5568-5568 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNA NC_012920.1(MT-CYB):m.5605A>G SNV Benign 689955 MT:5605-5605 MT:5605-5605 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNA NC_012920.1(MT-CYB):m.5655T>C SNV Benign 689966 MT:5655-5655 MT:5655-5655 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNA NC_012920.1(MT-CYB):m.5628T>C SNV Benign 689961 MT:5628-5628 MT:5628-5628 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNA NC_012920.1(MT-CYB):m.5633C>T SNV Benign 689962 MT:5633-5633 MT:5633-5633 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNA NC_012920.1(MT-CYB):m.5618T>C SNV Benign 689959 MT:5618-5618 MT:5618-5618 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNN NC_012920.1(MT-CYB):m.5663C>T SNV Benign 689969 MT:5663-5663 MT:5663-5663 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNN NC_012920.1(MT-CYB):m.5664A>G SNV Benign 689970 MT:5664-5664 MT:5664-5664 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNN NC_012920.1(MT-CYB):m.5665A>G SNV Benign 689971 MT:5665-5665 MT:5665-5665 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNN NC_012920.1(MT-CYB):m.5673T>C SNV Benign 689974 MT:5673-5673 MT:5673-5673 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNN NC_012920.1(MT-CYB):m.5686A>T SNV Benign 689975 MT:5686-5686 MT:5686-5686 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNN NC_012920.1(MT-CYB):m.5711A>G SNV Benign 689979 MT:5711-5711 MT:5711-5711 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNN NC_012920.1(MT-CYB):m.5715A>G SNV Benign 689980 MT:5715-5715 MT:5715-5715 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNC NC_012920.1(MT-CYB):m.5772G>A SNV Benign 689981 MT:5772-5772 MT:5772-5772 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNC NC_012920.1(MT-CYB):m.5773G>A SNV Benign 689982 MT:5773-5773 MT:5773-5773 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNC NC_012920.1(MT-CYB):m.5774T>C SNV Benign 689983 MT:5774-5774 MT:5774-5774 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNC NC_012920.1(MT-CYB):m.5774T>G SNV Benign 689984 MT:5774-5774 MT:5774-5774 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNC NC_012920.1(MT-CYB):m.5775T>C SNV Benign 689985 MT:5775-5775 MT:5775-5775 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNC NC_012920.1(MT-CYB):m.5780G>A SNV Benign 689986 MT:5780-5780 MT:5780-5780 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes TRNW m.5521G>A SNV Pathogenic 9556 rs199474673 MT:5521-5521 MT:5521-5521 MTC145 Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy TRNM m.4409T>C SNV Pathogenic 9578 rs118203884 MT:4409-4409 MT:4409-4409 MTC145 Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy TRNL2 m.12320A>G SNV Pathogenic 9587 rs121434463 MT:12320-12320 MT:12320-12320 MTC145 Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy TRNA m.5591G>A SNV Pathogenic 9625 rs121434458 MT:5591-5591 MT:5591-5591 MTC145 Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy TRNA NC_012920.1:m.5610G>A SNV Pathogenic 162370 rs786200951 MT:5610-5610 MT:5610-5610 MTC145 Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy TRNA NC_012920.1:m.5631G>A SNV Pathogenic 162369 rs786200950 MT:5631-5631 MT:5631-5631 MTC145 Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy SLC25A42 NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp) SNV Pathogenic/Likely pathogenic 219191 rs864321624 19:19221599-19221599 19:19110790-19110790 MTC145 Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy TRNE m.14709T>C SNV Pathogenic/Likely pathogenic 9617 rs121434453 MT:14709-14709 MT:14709-14709 MTC145 Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy FDX2 NM_001031734.4(FDX2):c.431C>T (p.Pro144Leu) SNV Likely pathogenic 623644 rs888630930 19:10421292-10421292 19:10310616-10310616 MTC145 Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy LARS2 NM_015340.4(LARS2):c.308G>A (p.Arg103His) SNV Likely pathogenic 691525 3:45441810-45441810 3:45400318-45400318 MTC145 Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy SLC25A4 NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) SNV Conflicting interpretations of pathogenicity 18249 rs121912683 4:186066174-186066174 4:185145020-185145020 MTC145 Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy LARS2 NM_015340.4(LARS2):c.1552G>A (p.Asp518Asn) SNV Conflicting interpretations of pathogenicity 226694 rs116826217 3:45537795-45537795 3:45496303-45496303 MTC145 Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy CYTB NC_012920.1:m.15096T>C SNV Uncertain significance 370063 rs1057516073 MT:15096-15096 MT:15096-15096 MTC145 Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy FDX2 NM_001031734.4(FDX2):c.10A>T (p.Met4Leu) SNV Uncertain significance 143059 rs587777600 19:10426672-10426672 19:10315996-10315996 MTC145 Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy ND5 NC_012920.1:m.12425del deletion Pathogenic 693440 MT:12418-12418 MT:12418-12418 MTC116 Mitochondrial Myopathy, Infantile, Transient COX3 m.9379G>A SNV Pathogenic 9657 rs267606615 MT:9379-9379 MT:9379-9379 MTC116 Mitochondrial Myopathy, Infantile, Transient CYTB m.14846G>A SNV Pathogenic 9679 rs207459998 MT:14846-14846 MT:14846-14846 MTC116 Mitochondrial Myopathy, Infantile, Transient CYTB m.15150G>A SNV Pathogenic 9681 rs207460000 MT:15150-15150 MT:15150-15150 MTC116 Mitochondrial Myopathy, Infantile, Transient TRNE m.14674T>G SNV Pathogenic 30003 rs387906421 MT:14674-14674 MT:14674-14674 MTC116 Mitochondrial Myopathy, Infantile, Transient TRNE m.14674T>C SNV Pathogenic/Likely pathogenic 9618 rs387906421 MT:14674-14674 MT:14674-14674 MTC116 Mitochondrial Myopathy, Infantile, Transient CYTB m.15579A>G SNV Likely pathogenic 9683 rs207460002 MT:15579-15579 MT:15579-15579 MTC116 Mitochondrial Myopathy, Infantile, Transient CYTB m.15615G>A SNV Likely pathogenic 9678 rs207459997 MT:15615-15615 MT:15615-15615 MTC116 Mitochondrial Myopathy, Infantile, Transient ND1 NC_012920.1:m.3502T>C SNV Likely pathogenic 692361 MT:3502-3502 MT:3502-3502 MTC116 Mitochondrial Myopathy, Infantile, Transient ND1 NC_012920.1:m.3571del deletion Likely pathogenic 692374 MT:3566-3566 MT:3566-3566 MTC116 Mitochondrial Myopathy, Infantile, Transient ND2 NC_012920.1:m.5367_5385del deletion Likely pathogenic 692585 MT:5360-5378 MT:5360-5378 MTC116 Mitochondrial Myopathy, Infantile, Transient COX1 NC_012920.1:m.6145G>A SNV Likely pathogenic 692624 MT:6145-6145 MT:6145-6145 MTC116 Mitochondrial Myopathy, Infantile, Transient COX1 NC_012920.1:m.7222A>G SNV Likely pathogenic 692717 MT:7222-7222 MT:7222-7222 MTC116 Mitochondrial Myopathy, Infantile, Transient ATP6 NC_012920.1:m.8719G>A SNV Likely pathogenic 692961 MT:8719-8719 MT:8719-8719 MTC116 Mitochondrial Myopathy, Infantile, Transient ND5 NC_012920.1:m.12858C>A SNV Uncertain significance 693492 MT:12858-12858 MT:12858-12858 MTC116 Mitochondrial Myopathy, Infantile, Transient TRNE m.14709T>C SNV Pathogenic/Likely pathogenic 9617 rs121434453 MT:14709-14709 MT:14709-14709 MTC025 Mitochondrial Myopathy with Diabetes PNPLA8 NM_001256007.3(PNPLA8):c.634_637del (p.Asn212fs) deletion Pathogenic 190127 rs786205882 7:108155299-108155302 7:108514855-108514858 MTC026 Mitochondrial Myopathy with Lactic Acidosis PNPLA8 NM_001256007.3(PNPLA8):c.1580G>A (p.Trp527Ter) SNV Likely pathogenic 804406 7:108137073-108137073 7:108496629-108496629 MTC026 Mitochondrial Myopathy with Lactic Acidosis PNPLA8 NM_001256007.3(PNPLA8):c.559C>T (p.Arg187Cys) SNV Conflicting interpretations of pathogenicity 634462 rs139626312 7:108155377-108155377 7:108514933-108514933 MTC026 Mitochondrial Myopathy with Lactic Acidosis PNPLA8 NM_001256007.3(PNPLA8):c.2161G>A (p.Glu721Lys) SNV Uncertain significance 870407 7:108113033-108113033 7:108472589-108472589 MTC026 Mitochondrial Myopathy with Lactic Acidosis PNPLA8 NM_001256007.3(PNPLA8):c.2273_2274CT[1] (p.Leu759fs) short repeat Uncertain significance 190128 rs774184465 7:108112918-108112919 7:108472474-108472475 MTC026 Mitochondrial Myopathy with Lactic Acidosis TYMP NM_001257989.1(TYMP):c.1174G>A (p.Gly392Ser) SNV Pathogenic 223064 rs797044455 22:50964571-50964571 22:50526142-50526142 MTC111 Mitochondrial Neurogastrointestinal Encephalomyopathy MTFMT NM_139242.4(MTFMT):c.1100_1101del (p.Phe367fs) deletion Pathogenic 506018 rs754222633 15:65295469-65295470 15:65003131-65003132 MTC195 Mitochondrial Oxidative Phosphorylation Disorder MTO1 NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr) SNV Pathogenic/Likely pathogenic 35496 rs143747297 6:74191784-74191784 6:73482061-73482061 MTC195 Mitochondrial Oxidative Phosphorylation Disorder NUBPL NM_025152.3(NUBPL):c.2T>C (p.Met1Thr) SNV Likely pathogenic 517222 rs567437692 14:32030647-32030647 14:31561441-31561441 MTC195 Mitochondrial Oxidative Phosphorylation Disorder SERAC1 NM_032861.4(SERAC1):c.21C>A (p.Cys7Ter) SNV Likely pathogenic 505907 rs139301835 6:158579375-158579375 6:158158343-158158343 MTC195 Mitochondrial Oxidative Phosphorylation Disorder RMND1 NM_017909.4(RMND1):c.713A>G (p.Asn238Ser) SNV Conflicting interpretations of pathogenicity 225255 rs144972972 6:151751289-151751289 6:151430154-151430154 MTC195 Mitochondrial Oxidative Phosphorylation Disorder GFM1 NM_024996.5(GFM1):c.748C>T (p.Arg250Trp) SNV Pathogenic/Likely pathogenic 30598 rs139430866 3:158369943-158369943 3:158652154-158652154 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.340G>A (p.Ala114Thr) SNV Conflicting interpretations of pathogenicity 857026 X:129283453-129283453 X:130149478-130149478 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.389C>G (p.Thr130Arg) SNV Conflicting interpretations of pathogenicity 214673 rs117510230 10:75010635-75010635 10:73250877-73250877 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.112C>A (p.His38Asn) SNV Conflicting interpretations of pathogenicity 214670 rs116157972 10:75011683-75011683 10:73251925-73251925 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.1047C>T (p.Ser349=) SNV Conflicting interpretations of pathogenicity 214080 rs781350745 X:129271081-129271081 X:130137106-130137106 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln) SNV Conflicting interpretations of pathogenicity 214082 rs752742151 X:129281749-129281749 X:130147774-130147774 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.-8G>C SNV Conflicting interpretations of pathogenicity 138249 rs2271909 10:75012248-75012248 10:73252490-73252490 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile) SNV Conflicting interpretations of pathogenicity 243069 rs202219398 X:129267348-129267348 X:130133373-130133373 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS22 NM_020191.4(MRPS22):c.987+15del deletion Conflicting interpretations of pathogenicity 343491 rs372892045 3:139074639-139074639 3:139355797-139355797 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AARS2 NM_020745.4(AARS2):c.1534G>C (p.Asp512His) SNV Conflicting interpretations of pathogenicity 357070 rs146512155 6:44272836-44272836 6:44305099-44305099 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.63T>C (p.Leu21=) SNV Conflicting interpretations of pathogenicity 300721 rs376338190 10:75011732-75011732 10:73251974-73251974 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.14-12G>A SNV Conflicting interpretations of pathogenicity 300725 rs11594611 10:75011793-75011793 10:73252035-73252035 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.96C>T (p.Tyr32=) SNV Conflicting interpretations of pathogenicity 300720 rs201106309 10:75011699-75011699 10:73251941-73251941 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.59G>A (p.Arg20His) SNV Conflicting interpretations of pathogenicity 300722 rs202242186 10:75011736-75011736 10:73251978-73251978 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.-147C>G SNV Uncertain significance 300731 rs886047202 10:75012387-75012387 10:73252629-73252629 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies C12orf65 NM_152269.5(C12orf65):c.*14del deletion Uncertain significance 307498 rs886049040 12:123741592-123741592 12:123257045-123257045 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies TUFM NM_003321.5(TUFM):c.1195-3T>C SNV Uncertain significance 318743 rs376169369 16:28854472-28854472 16:28843151-28843151 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies TUFM NM_003321.5(TUFM):c.-57_-55TCT[2] short repeat Uncertain significance 318759 rs147419027 16:28857639-28857641 16:28846318-28846320 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies TSFM NM_005726.6(TSFM):c.233C>T (p.Ala78Val) SNV Uncertain significance 310009 rs886049729 12:58179947-58179947 12:57786164-57786164 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies C12orf65 NM_152269.5(C12orf65):c.*702_*705CAGT[1] short repeat Uncertain significance 307511 rs886049046 12:123742280-123742283 12:123257733-123257736 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies TUFM NM_003321.4(TUFM):c.-81G>C SNV Uncertain significance 318761 rs573249163 16:28857671-28857671 16:28846350-28846350 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies TUFM NM_003321.4(TUFM):c.-128G>C SNV Uncertain significance 318762 rs555362028 16:28857718-28857718 16:28846397-28846397 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies EARS2 NM_001083614.2(EARS2):c.*1902dup duplication Uncertain significance 318512 rs79556186 16:23533789-23533790 16:23522468-23522469 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies EARS2 NM_001083614.2(EARS2):c.*1048del deletion Uncertain significance 318526 rs750087699 16:23534644-23534644 16:23523323-23523323 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies EARS2 NM_001083614.2(EARS2):c.*535dup duplication Uncertain significance 318531 rs11300207 16:23535156-23535157 16:23523835-23523836 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies EARS2 NM_001083614.2(EARS2):c.558G>A (p.Ala186=) SNV Uncertain significance 318554 rs374363396 16:23546609-23546609 16:23535288-23535288 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.1597G>A (p.Glu533Lys) SNV Uncertain significance 372555 rs1057517852 X:129264118-129264118 X:130130143-130130143 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.16A>C (p.Thr6Pro) SNV Uncertain significance 300724 rs141953041 10:75011779-75011779 10:73252021-73252021 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.275-7C>A SNV Uncertain significance 300718 rs886047199 10:75010756-75010756 10:73250998-73250998 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.247C>A (p.Leu83Ile) SNV Uncertain significance 300719 rs886047200 10:75011548-75011548 10:73251790-73251790 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.*1295T>A SNV Uncertain significance 300693 rs778852449 10:75009315-75009315 10:73249557-73249557 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.*642T>C SNV Uncertain significance 300703 rs145765900 10:75009968-75009968 10:73250210-73250210 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.*1074A>C SNV Uncertain significance 300696 rs530487067 10:75009536-75009536 10:73249778-73249778 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.*979C>G SNV Uncertain significance 300697 rs112218454 10:75009631-75009631 10:73249873-73249873 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.*593A>G SNV Uncertain significance 300706 rs886047193 10:75010017-75010017 10:73250259-73250259 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.*566A>G SNV Uncertain significance 300707 rs886047194 10:75010044-75010044 10:73250286-73250286 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.*280C>T SNV Uncertain significance 300713 rs181757719 10:75010330-75010330 10:73250572-73250572 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.*1391G>A SNV Uncertain significance 300692 rs139703406 10:75009219-75009219 10:73249461-73249461 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.*1150G>A SNV Uncertain significance 300695 rs79140810 10:75009460-75009460 10:73249702-73249702 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.*922G>A SNV Uncertain significance 300698 rs561890630 10:75009688-75009688 10:73249930-73249930 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.-120_-118del deletion Uncertain significance 300729 rs574159820 10:75012358-75012360 10:73252600-73252602 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.*742G>T SNV Uncertain significance 300700 rs886047189 10:75009868-75009868 10:73250110-73250110 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.*741A>T SNV Uncertain significance 300701 rs886047190 10:75009869-75009869 10:73250111-73250111 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.*502G>A SNV Uncertain significance 300709 rs560241550 10:75010108-75010108 10:73250350-73250350 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.*472C>T SNV Uncertain significance 300711 rs886047195 10:75010138-75010138 10:73250380-73250380 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.*450del deletion Uncertain significance 300712 rs886047196 10:75010160-75010160 10:73250402-73250402 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.275-5T>G SNV Uncertain significance 300717 rs763591161 10:75010754-75010754 10:73250996-73250996 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.*1860G>T SNV Uncertain significance 300686 rs886047186 10:75008750-75008750 10:73248992-73248992 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.*1503A>G SNV Uncertain significance 300690 rs2018198 10:75009107-75009107 10:73249349-73249349 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.*1291_*1293del deletion Uncertain significance 300694 rs767465725 10:75009317-75009319 10:73249559-73249561 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.*854_*856del deletion Uncertain significance 300699 rs886047188 10:75009754-75009756 10:73249996-73249998 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.*740G>A SNV Uncertain significance 300702 rs886047191 10:75009870-75009870 10:73250112-73250112 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.*633dup duplication Uncertain significance 300704 rs555061429 10:75009976-75009977 10:73250218-73250219 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.*121G>A SNV Uncertain significance 300714 rs886047197 10:75010489-75010489 10:73250731-73250731 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.*65G>A SNV Uncertain significance 300715 rs886047198 10:75010545-75010545 10:73250787-73250787 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AARS2 NM_020745.4(AARS2):c.*1284_*1287del deletion Uncertain significance 357034 rs201274623 6:44266997-44267000 6:44299260-44299263 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.-85_-84GT[1] short repeat Uncertain significance 300726 rs886047201 10:75012322-75012323 10:73252564-73252565 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.-134C>T SNV Uncertain significance 300730 rs549463907 10:75012374-75012374 10:73252616-73252616 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.3(MRPS16):c.-183A>G SNV Uncertain significance 300732 rs886047203 10:75012423-75012423 10:73252665-73252665 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.*1761A>G SNV Uncertain significance 300687 rs886047187 10:75008849-75008849 10:73249091-73249091 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS22 NM_020191.4(MRPS22):c.648+19del deletion Uncertain significance 343487 rs773240427 3:139069180-139069180 3:139350338-139350338 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS22 NM_020191.3(MRPS22):c.799T>C (p.Tyr267His) SNV Uncertain significance 343490 rs762299963 3:139071555-139071555 3:139352713-139352713 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies GFM1 NM_024996.5(GFM1):c.1384G>T (p.Asp462Tyr) SNV Uncertain significance 343933 rs200244667 3:158383129-158383129 3:158665340-158665340 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AARS2 NM_020745.4(AARS2):c.*1473del deletion Uncertain significance 357031 rs766302064 6:44266811-44266811 6:44299074-44299074 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AARS2 NM_020745.4(AARS2):c.*1112dup duplication Uncertain significance 357037 rs112521684 6:44267171-44267172 6:44299434-44299435 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.134C>G (p.Pro45Arg) SNV Uncertain significance 214085 rs756361109 X:129290550-129290550 X:130156576-130156576 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.253T>C (p.Tyr85His) SNV Uncertain significance 839040 X:129283540-129283540 X:130149565-130149565 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.74T>C (p.Val25Ala) SNV Uncertain significance 858888 X:129299557-129299557 X:130165583-130165583 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.556A>G (p.Asn186Asp) SNV Uncertain significance 547098 rs765298573 X:129281517-129281517 X:130147542-130147542 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.1081G>A (p.Val361Ile) SNV Uncertain significance 576371 rs1569417347 X:129270701-129270701 X:130136726-130136726 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.952G>A (p.Ala318Thr) SNV Uncertain significance 594797 rs773680831 X:129272583-129272583 X:130138608-130138608 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.1710C>A (p.Asp570Glu) SNV Uncertain significance 643666 X:129264005-129264005 X:130130030-130130030 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.1693A>G (p.Ile565Val) SNV Uncertain significance 642792 X:129264022-129264022 X:130130047-130130047 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.1594A>G (p.Ser532Gly) SNV Uncertain significance 646433 X:129264121-129264121 X:130130146-130130146 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.1094C>G (p.Pro365Arg) SNV Uncertain significance 658217 X:129270688-129270688 X:130136713-130136713 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.1006G>A (p.Glu336Lys) SNV Uncertain significance 641733 X:129271122-129271122 X:130137147-130137147 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.893G>A (p.Arg298Gln) SNV Uncertain significance 655000 X:129272642-129272642 X:130138667-130138667 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.646G>A (p.Asp216Asn) SNV Uncertain significance 651317 X:129279504-129279504 X:130145529-130145529 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.630C>A (p.Phe210Leu) SNV Uncertain significance 647700 X:129279520-129279520 X:130145545-130145545 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.350C>T (p.Ala117Val) SNV Uncertain significance 647178 X:129281851-129281851 X:130147876-130147876 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.341C>T (p.Ala114Val) SNV Uncertain significance 639720 X:129283452-129283452 X:130149477-130149477 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.238G>A (p.Ala80Thr) SNV Uncertain significance 643584 X:129290446-129290446 X:130156472-130156472 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.141A>C (p.Glu47Asp) SNV Uncertain significance 660192 X:129290543-129290543 X:130156569-130156569 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.1075+4G>C SNV Uncertain significance 640384 X:129271049-129271049 X:130137074-130137074 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.1643C>T (p.Pro548Leu) SNV Uncertain significance 411665 rs750418813 X:129264072-129264072 X:130130097-130130097 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.1501A>T (p.Ser501Cys) SNV Uncertain significance 411664 rs769816388 X:129265722-129265722 X:130131747-130131747 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) SNV Uncertain significance 445310 rs201711375 X:129290514-129290514 X:130156540-130156540 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.1481C>T (p.Ala494Val) SNV Uncertain significance 477606 rs1556254400 X:129265742-129265742 X:130131767-130131767 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.597A>C (p.Lys199Asn) SNV Uncertain significance 477607 rs143670174 X:129281476-129281476 X:130147501-130147501 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.1114G>A (p.Val372Ile) SNV Uncertain significance 543931 rs1056740593 X:129270668-129270668 X:130136693-130136693 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.1633C>T (p.Pro545Ser) SNV Uncertain significance 859916 X:129264082-129264082 X:130130107-130130107 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.1586G>A (p.Arg529Gln) SNV Uncertain significance 836428 X:129264129-129264129 X:130130154-130130154 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.1105G>T (p.Val369Leu) SNV Uncertain significance 863172 X:129270677-129270677 X:130136702-130136702 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.1058T>C (p.Met353Thr) SNV Uncertain significance 843858 X:129271070-129271070 X:130137095-130137095 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.971G>A (p.Arg324Gln) SNV Uncertain significance 834646 X:129271157-129271157 X:130137182-130137182 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.724A>G (p.Met242Val) SNV Uncertain significance 836326 X:129274565-129274565 X:130140590-130140590 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.511A>G (p.Met171Val) SNV Uncertain significance 860644 X:129281562-129281562 X:130147587-130147587 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.339C>T (p.Ala113=) SNV Likely benign 543933 rs368967639 X:129283454-129283454 X:130149479-130149479 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.1609G>A (p.Glu537Lys) SNV Likely benign 543930 rs761765345 X:129264106-129264106 X:130130131-130130131 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.801G>A (p.Leu267=) SNV Likely benign 477608 rs373960871 X:129273827-129273827 X:130139852-130139852 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies GFM1 NM_024996.5(GFM1):c.689+908G>A SNV Likely benign 509754 rs751069628 3:158367854-158367854 3:158650065-158650065 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.273_274inv (p.Glu92Lys) inversion Likely benign 696066 X:129283519-129283520 X:130149544-130149545 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.342G>A (p.Ala114=) SNV Likely benign 698871 X:129283451-129283451 X:130149476-130149476 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.1448+8T>C SNV Likely benign 700914 X:129267280-129267280 X:130133305-130133305 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.287A>G (p.Asn96Ser) SNV Likely benign 239688 rs764149793 X:129283506-129283506 X:130149531-130149531 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies GFM1 NM_024996.5(GFM1):c.*454_*456del deletion Likely benign 343942 rs367730845 3:158409708-158409710 3:158691919-158691921 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe) SNV Likely benign 162477 rs184474885 X:129271098-129271098 X:130137123-130137123 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.1758A>C (p.Pro586=) SNV Likely benign 743064 X:129263957-129263957 X:130129982-130129982 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies GFM1 NM_024996.5(GFM1):c.*483_*484insTA insertion Likely benign 343943 rs10662631 3:158409739-158409740 3:158691950-158691951 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.*1510del deletion Likely benign 300688 rs56788336 10:75009100-75009100 10:73249342-73249342 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.*1406_*1408CTT[1] short repeat Likely benign 300691 rs868436163 10:75009199-75009201 10:73249441-73249443 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.*473G>A SNV Likely benign 300710 rs12249492 10:75010137-75010137 10:73250379-73250379 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.*13T>C SNV Likely benign 300716 rs7075371 10:75010597-75010597 10:73250839-73250839 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies C12orf65 NM_152269.5(C12orf65):c.*696_*699del deletion Likely benign 307510 rs202152701 12:123742271-123742274 12:123257724-123257727 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.*529A>G SNV Likely benign 300708 rs12257322 10:75010081-75010081 10:73250323-73250323 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.-103G>T SNV Likely benign 300728 rs11538567 10:75012343-75012343 10:73252585-73252585 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.*600A>G SNV Likely benign 300705 rs12257264 10:75010010-75010010 10:73250252-73250252 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.*1503A>T SNV Likely benign 300689 rs2018198 10:75009107-75009107 10:73249349-73249349 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies EARS2 NM_001083614.1(EARS2):c.*385_*386delGA short repeat Likely benign 318535 rs200036419 16:23535306-23535307 16:23523985-23523986 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies TUFM NM_003321.4(TUFM):c.-132G>A SNV Likely benign 318763 rs112029765 16:28857722-28857722 16:28846401-28846401 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies C12orf65 NM_152269.5(C12orf65):c.*711_*713del deletion Likely benign 307512 rs148010033 12:123742287-123742289 12:123257740-123257742 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.34T>C (p.Tyr12His) SNV Likely benign 300723 rs7905009 10:75011761-75011761 10:73252003-73252003 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.72C>T (p.Cys24=) SNV Benign/Likely benign 367894 rs373609902 X:129299559-129299559 X:130165585-130165585 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.366A>G (p.Glu122=) SNV Benign/Likely benign 367891 rs756883753 X:129281835-129281835 X:130147860-130147860 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies MRPS16 NM_016065.4(MRPS16):c.-95G>A SNV Benign/Likely benign 300727 rs111672256 10:75012335-75012335 10:73252577-73252577 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AARS2 NM_020745.4(AARS2):c.1189-16_1189-14del short repeat Benign/Likely benign 357072 rs144914586 6:44274142-44274144 6:44306405-44306407 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.1329C>T (p.Tyr443=) SNV Benign/Likely benign 136323 rs143792929 X:129267407-129267407 X:130133432-130133432 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.948C>A (p.Ala316=) SNV Benign/Likely benign 516100 rs148184613 X:129272587-129272587 X:130138612-130138612 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.54C>G (p.Pro18=) SNV Benign/Likely benign 512658 rs140076585 X:129299577-129299577 X:130165603-130165603 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.1644G>A (p.Pro548=) SNV Benign/Likely benign 377456 rs150821143 X:129264071-129264071 X:130130096-130130096 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.1227T>G (p.Thr409=) SNV Benign 543932 rs61730898 X:129270098-129270098 X:130136123-130136123 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.274G>A (p.Glu92Lys) SNV Benign 789869 X:129283519-129283519 X:130149544-130149544 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.1416T>C (p.Ala472=) SNV Benign 136324 rs141324245 X:129267320-129267320 X:130133345-130133345 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.1833T>C (p.His611=) SNV Benign 136325 rs73556209 X:129263541-129263541 X:130129566-130129566 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.103C>T (p.Pro35Ser) SNV Benign 136326 rs61730896 X:129299528-129299528 X:130165554-130165554 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.918C>T (p.Ile306=) SNV Benign 136320 rs12014115 X:129272617-129272617 X:130138642-130138642 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AIFM1 NM_004208.4(AIFM1):c.996A>G (p.Gln332=) SNV Benign 136322 rs12007545 X:129271132-129271132 X:130137157-130137157 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AARS2 NM_020745.4(AARS2):c.*1635_*1636insAA insertion Benign 357026 rs34687863 6:44266648-44266649 6:44298911-44298912 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AARS2 NM_020745.4(AARS2):c.*633_*634insGGTATGGGTGCCCT insertion Benign 357043 rs112092257 6:44267650-44267651 6:44299913-44299914 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AARS2 NM_020745.4(AARS2):c.*555_*556insATAAA insertion Benign 357044 rs111990690 6:44267728-44267729 6:44299991-44299992 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies AARS2 NM_020745.4(AARS2):c.*1284del deletion Benign 357035 rs35562884 6:44267000-44267000 6:44299263-44299263 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies EARS2 NM_001083614.2(EARS2):c.*535del deletion Benign 318532 rs11300207 16:23535157-23535157 16:23523836-23523836 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies EARS2 NM_001083614.2(EARS2):c.*380_*384del deletion Benign 318536 rs3071379 16:23535308-23535312 16:23523987-23523991 MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies SLC25A3 NM_002635.4(SLC25A3):c.158-237G>A SNV Pathogenic 9149 rs104894375 12:98989268-98989268 12:98595490-98595490 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_002635.4(SLC25A3):c.147C>A (p.Ala49=) SNV Conflicting interpretations of pathogenicity 508848 rs370367708 12:98987903-98987903 12:98594125-98594125 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_005888.3(SLC25A3):c.-69G>A SNV Uncertain significance 883934 12:98987454-98987454 12:98593676-98593676 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_002635.4(SLC25A3):c.61C>T (p.Leu21=) SNV Uncertain significance 880645 12:98987817-98987817 12:98594039-98594039 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_002635.4(SLC25A3):c.75T>C (p.Gly25=) SNV Uncertain significance 880646 12:98987831-98987831 12:98594053-98594053 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_002635.4(SLC25A3):c.312C>T (p.Asn104=) SNV Uncertain significance 880647 12:98991666-98991666 12:98597888-98597888 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_002635.4(SLC25A3):c.648C>T (p.Tyr216=) SNV Uncertain significance 882065 12:98993739-98993739 12:98599961-98599961 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_002635.4(SLC25A3):c.666C>G (p.Leu222=) SNV Uncertain significance 882066 12:98993757-98993757 12:98599979-98599979 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_002635.4(SLC25A3):c.1020A>G (p.Arg340=) SNV Uncertain significance 883212 12:98995240-98995240 12:98601462-98601462 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_002635.4(SLC25A3):c.*254A>G SNV Uncertain significance 883213 12:98995560-98995560 12:98601782-98601782 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_002635.4(SLC25A3):c.*296G>T SNV Uncertain significance 883214 12:98995602-98995602 12:98601824-98601824 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_002635.4(SLC25A3):c.*316A>G SNV Uncertain significance 884003 12:98995622-98995622 12:98601844-98601844 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_002635.4(SLC25A3):c.*429C>G SNV Uncertain significance 884004 12:98995735-98995735 12:98601957-98601957 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_002635.4(SLC25A3):c.*94T>C SNV Uncertain significance 310804 rs886049921 12:98995400-98995400 12:98601622-98601622 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_002635.4(SLC25A3):c.*360del deletion Uncertain significance 310809 rs886049922 12:98995665-98995665 12:98601887-98601887 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_002635.4(SLC25A3):c.*411T>C SNV Uncertain significance 310810 rs757599299 12:98995717-98995717 12:98601939-98601939 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_002635.4(SLC25A3):c.-4-7C>T SNV Uncertain significance 310796 rs766677386 12:98987746-98987746 12:98593968-98593968 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_002635.4(SLC25A3):c.715C>T (p.Arg239Cys) SNV Uncertain significance 310799 rs772819565 12:98993806-98993806 12:98600028-98600028 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_002635.4(SLC25A3):c.814+4C>T SNV Uncertain significance 310800 rs886049920 12:98993909-98993909 12:98600131-98600131 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_002635.4(SLC25A3):c.814+5G>T SNV Uncertain significance 310801 rs200029342 12:98993910-98993910 12:98600132-98600132 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_002635.4(SLC25A3):c.-38C>T SNV Uncertain significance 310795 rs542602103 12:98987485-98987485 12:98593707-98593707 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_002635.4(SLC25A3):c.4T>C (p.Phe2Leu) SNV Uncertain significance 310797 rs886049919 12:98987760-98987760 12:98593982-98593982 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_002635.4(SLC25A3):c.*255T>G SNV Uncertain significance 310808 rs540509043 12:98995561-98995561 12:98601783-98601783 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_005888.3(SLC25A3):c.-120G>C SNV Uncertain significance 310790 rs774325459 12:98987403-98987403 12:98593625-98593625 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_005888.3(SLC25A3):c.-61G>T SNV Uncertain significance 310794 rs886049918 12:98987462-98987462 12:98593684-98593684 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_002635.4(SLC25A3):c.858G>T (p.Val286=) SNV Uncertain significance 310803 rs750516275 12:98994992-98994992 12:98601214-98601214 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_002635.4(SLC25A3):c.471T>C (p.Tyr157=) SNV Likely benign 310798 rs531425336 12:98992311-98992311 12:98598533-98598533 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_005888.3(SLC25A3):c.-74C>T SNV Likely benign 310793 rs532766014 12:98987449-98987449 12:98593671-98593671 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_002635.4(SLC25A3):c.436T>C (p.Leu146=) SNV Benign 139148 rs11544648 12:98991790-98991790 12:98598012-98598012 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_005888.3(SLC25A3):c.-92G>A SNV Benign 310791 rs115763433 12:98987431-98987431 12:98593653-98593653 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_002635.4(SLC25A3):c.*211T>A SNV Benign 310806 rs76488843 12:98995517-98995517 12:98601739-98601739 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_005888.3(SLC25A3):c.-78G>A SNV Benign 310792 rs28372744 12:98987445-98987445 12:98593667-98593667 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_002635.4(SLC25A3):c.*221T>G SNV Benign 310807 rs115173420 12:98995527-98995527 12:98601749-98601749 MTC037 Mitochondrial Phosphate Carrier Deficiency SLC25A3 NM_002635.4(SLC25A3):c.*102C>A SNV Benign 310805 rs74604883 12:98995408-98995408 12:98601630-98601630 MTC037 Mitochondrial Phosphate Carrier Deficiency MPC1 NM_016098.4(MPC1):c.289C>T (p.Arg97Trp) SNV Pathogenic 35561 rs387907237 6:166779478-166779478 6:166365990-166365990 MTC079 Mitochondrial Pyruvate Carrier Deficiency MPC1 NM_016098.4(MPC1):c.236T>A (p.Leu79His) SNV Pathogenic 35562 rs387907238 6:166779531-166779531 6:166366043-166366043 MTC079 Mitochondrial Pyruvate Carrier Deficiency MPC1 NM_016098.4(MPC1):c.214A>G (p.Lys72Glu) SNV Likely pathogenic 488547 rs1554264977 6:166779553-166779553 6:166366065-166366065 MTC079 Mitochondrial Pyruvate Carrier Deficiency ECHS1 NC_000010.10:g.(?_135175966)_(135180498_135182426)del deletion Pathogenic 397547 10:135175966-135182426 10:133362462-133368922 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 NM_004092.4(ECHS1):c.856_857dup (p.Asn286fs) duplication Pathogenic 488496 rs1554885530 10:135176387-135176388 10:133362883-133362884 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 NM_004092.4(ECHS1):c.394G>A (p.Ala132Thr) SNV Pathogenic 488499 rs770931871 10:135183428-135183428 10:133369924-133369924 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 NM_004092.4(ECHS1):c.74G>C (p.Arg25Pro) SNV Pathogenic 488500 rs1554886769 10:135186764-135186764 10:133373260-133373260 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 NM_004092.4(ECHS1):c.583G>A (p.Gly195Ser) SNV Pathogenic 802641 10:135180429-135180429 10:133366925-133366925 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 NM_004092.4(ECHS1):c.161G>A (p.Arg54His) SNV Pathogenic 802642 10:135184189-135184189 10:133370685-133370685 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 NM_004092.4(ECHS1):c.121_122AG[1] (p.Gly42fs) short repeat Pathogenic 802643 10:135184226-135184227 10:133370722-133370723 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 NM_004092.4(ECHS1):c.5C>T (p.Ala2Val) SNV Pathogenic 156434 rs587776498 10:135186833-135186833 10:133373329-133373329 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 NM_004092.4(ECHS1):c.473C>A (p.Ala158Asp) SNV Pathogenic 187859 rs786204001 10:135182468-135182468 10:133368964-133368964 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 NM_004092.4(ECHS1):c.414+3G>C SNV Pathogenic 187860 rs786204002 10:135183405-135183405 10:133369901-133369901 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 NM_004092.4(ECHS1):c.176A>G (p.Asn59Ser) SNV Pathogenic 218890 rs201865375 10:135184174-135184174 10:133370670-133370670 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 NM_004092.4(ECHS1):c.413C>T (p.Ala138Val) SNV Pathogenic 218891 rs864309656 10:135183409-135183409 10:133369905-133369905 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 NM_004092.4(ECHS1):c.2T>G (p.Met1Arg) SNV Pathogenic/Likely pathogenic 156433 rs587776497 10:135186836-135186836 10:133373332-133373332 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 NM_004092.4(ECHS1):c.817A>G (p.Lys273Glu) SNV Pathogenic/Likely pathogenic 372596 rs565090080 10:135176428-135176428 10:133362924-133362924 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) SNV Pathogenic/Likely pathogenic 377257 rs150321966 10:135180494-135180494 10:133366990-133366990 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg) SNV Pathogenic/Likely pathogenic 379794 rs375032130 10:135182465-135182465 10:133368961-133368961 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 NM_004092.4(ECHS1):c.410_411del (p.Tyr137fs) deletion Pathogenic/Likely pathogenic 418830 rs777218310 10:135183411-135183412 10:133369907-133369908 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 NM_004092.4(ECHS1):c.88+5G>A SNV Likely pathogenic 430372 rs761464256 10:135186745-135186745 10:133373241-133373241 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 NM_004092.4(ECHS1):c.830C>T (p.Thr277Ile) SNV Likely pathogenic 397546 rs775650144 10:135176415-135176415 10:133362911-133362911 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 NM_004092.4(ECHS1):c.676G>A (p.Ala226Thr) SNV Likely pathogenic 488497 rs1318391499 10:135179543-135179543 10:133366039-133366039 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 NM_004092.4(ECHS1):c.488C>T (p.Pro163Leu) SNV Likely pathogenic 488498 rs371582393 10:135182453-135182453 10:133368949-133368949 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 NM_004092.4(ECHS1):c.1A>T (p.Met1Leu) SNV Likely pathogenic 802644 10:135186837-135186837 10:133373333-133373333 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 NM_004092.4(ECHS1):c.414+1G>A SNV Likely pathogenic 870387 10:135183407-135183407 10:133369903-133369903 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala) SNV Likely pathogenic 691284 10:135180474-135180474 10:133366970-133366970 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 NM_004092.4(ECHS1):c.847A>G (p.Arg283Gly) SNV Likely pathogenic 692006 10:135176398-135176398 10:133362894-133362894 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 NM_004092.4(ECHS1):c.8C>T (p.Ala3Val) SNV Likely pathogenic 692007 10:135186830-135186830 10:133373326-133373326 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 NM_004092.4(ECHS1):c.796A>G (p.Thr266Ala) SNV Likely pathogenic 802638 10:135178173-135178173 10:133364669-133364669 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 NM_004092.4(ECHS1):c.740C>T (p.Ala247Val) SNV Likely pathogenic 802639 10:135178229-135178229 10:133364725-133364725 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 NM_004092.4(ECHS1):c.637T>C (p.Cys213Arg) SNV Likely pathogenic 802640 10:135179582-135179582 10:133366078-133366078 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 NM_004092.4(ECHS1):c.541C>T (p.Arg181Cys) SNV Likely pathogenic 488384 rs754609693 10:135180471-135180471 10:133366967-133366967 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 NM_004092.4(ECHS1):c.160C>T (p.Arg54Cys) SNV Likely pathogenic 369670 rs758723288 10:135184190-135184190 10:133370686-133370686 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 NM_004092.4(ECHS1):c.268G>C (p.Gly90Arg) SNV Uncertain significance 689756 10:135184082-135184082 10:133370578-133370578 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency ECHS1 NM_004092.4(ECHS1):c.836T>C (p.Phe279Ser) SNV Uncertain significance 451145 rs1554885535 10:135176409-135176409 10:133362905-133362905 MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency HADHB NM_000183.3(HADHB):c.254+1G>A SNV Pathogenic 431987 rs776172237 2:26492866-26492866 2:26269998-26269998 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.6_24dup (p.Ile9fs) duplication Pathogenic 579792 rs1456890163 2:26467440-26467441 2:26244572-26244573 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.685C>T (p.Arg229Ter) SNV Pathogenic 579455 rs759136382 2:26502057-26502057 2:26279189-26279189 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.612dup (p.Arg205Ter) duplication Pathogenic 638987 2:26453123-26453124 2:26230255-26230256 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1644del (p.Arg549fs) deletion Pathogenic 651987 2:26417484-26417484 2:26194615-26194615 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NC_000002.11:g.(?_26414109)_(26462021_?)del deletion Pathogenic 661736 2:26414109-26462021 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1689+2T>G SNV Pathogenic 801655 2:26417437-26417437 2:26194568-26194568 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.1206C>G (p.Tyr402Ter) SNV Pathogenic 801656 2:26507807-26507807 2:26284939-26284939 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NC_000002.12:g.(?_26236845)_(26239153_?)del deletion Pathogenic 831608 2:26459713-26462021 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1720_1721del (p.Leu574fs) deletion Pathogenic 845656 2:26416610-26416611 2:26193741-26193742 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1690-17_1690-2del deletion Pathogenic 848128 2:26416643-26416658 2:26193774-26193789 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) SNV Pathogenic 100085 rs137852769 2:26418053-26418053 2:26195184-26195184 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.180+3A>G SNV Pathogenic 8731 rs781222705 2:26461799-26461799 2:26238931-26238931 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter) SNV Pathogenic 8732 rs137852771 2:26417450-26417450 2:26194581-26194581 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.2132dup (p.Pro712fs) duplication Pathogenic 8733 2:26414365-26414366 2:26191496-26191497 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1025T>C (p.Leu342Pro) SNV Pathogenic 8734 rs137852772 2:26432709-26432709 2:26209840-26209840 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.845T>A (p.Val282Asp) SNV Pathogenic 8735 rs137852773 2:26437385-26437385 2:26214516-26214516 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.871C>T (p.Arg291Ter) SNV Pathogenic 8737 rs137852775 2:26437359-26437359 2:26214490-26214490 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.788A>G (p.Asp263Gly) SNV Pathogenic 14844 rs121913131 2:26502160-26502160 2:26279292-26279292 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.1331G>A (p.Arg444Lys) SNV Pathogenic 14847 rs121913134 2:26508381-26508381 2:26285513-26285513 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB HADHB, 1-BP INS, 36-BP DEL indel Pathogenic 14848 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.1364T>G (p.Val455Gly) SNV Pathogenic 14849 rs267606859 2:26508414-26508414 2:26285546-26285546 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.1175C>T (p.Ala392Val) SNV Pathogenic 190379 rs764623179 2:26507776-26507776 2:26284908-26284908 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.357dup (p.Ala120fs) duplication Pathogenic 253049 rs886037844 2:26499942-26499943 2:26277074-26277075 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1793_1794del (p.His598fs) deletion Pathogenic/Likely pathogenic 188962 rs769580842 2:26416537-26416538 2:26193668-26193669 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.274_278del (p.Ser92fs) deletion Pathogenic/Likely pathogenic 189105 rs781205883 2:26459759-26459763 2:26236891-26236895 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.2000+1G>C SNV Pathogenic/Likely pathogenic 554318 rs1167218743 2:26415178-26415178 2:26192309-26192309 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter) SNV Pathogenic/Likely pathogenic 449455 rs1243779049 2:26426956-26426956 2:26204087-26204087 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1086-3_1092del deletion Pathogenic/Likely pathogenic 370400 rs1057516460 2:26427059-26427068 2:26204190-26204199 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.453+1G>A SNV Likely pathogenic 370347 rs1057516417 2:26457084-26457084 2:26234216-26234216 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.574-2A>G SNV Likely pathogenic 835948 2:26453164-26453164 2:26230296-26230296 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.1375G>A (p.Ala459Thr) SNV Likely pathogenic 801657 2:26508425-26508425 2:26285557-26285557 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.539C>T (p.Pro180Leu) SNV Likely pathogenic 816540 2:26455062-26455062 2:26232194-26232194 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.631-2A>C SNV Likely pathogenic 643838 2:26502001-26502001 2:26279133-26279133 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1645A>G (p.Arg549Gly) SNV Likely pathogenic 689365 2:26417483-26417483 2:26194614-26194614 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.209+1G>A SNV Likely pathogenic 225385 rs113112630 2:26486348-26486348 2:26263480-26263480 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.182G>A (p.Arg61His) SNV Likely pathogenic 14845 rs121913132 2:26486320-26486320 2:26263452-26263452 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.740G>A (p.Arg247His) SNV Likely pathogenic 14846 rs121913133 2:26502112-26502112 2:26279244-26279244 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1132C>T (p.Gln378Ter) SNV Likely pathogenic 8729 rs137852770 2:26427019-26427019 2:26204150-26204150 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.180+1G>A SNV Likely pathogenic 8730 rs786205088 2:26461801-26461801 2:26238933-26238933 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.901G>C (p.Gly301Arg) SNV Likely pathogenic 548520 rs891954464 2:26502951-26502951 2:26280083-26280083 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.255-2A>G SNV Likely pathogenic 844215 2:26496517-26496517 2:26273649-26273649 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.914T>A (p.Ile305Asn) SNV Conflicting interpretations of pathogenicity 8736 rs137852774 2:26437316-26437316 2:26214447-26214447 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.-1G>T SNV Conflicting interpretations of pathogenicity 92593 rs72809666 2:26467465-26467465 2:26244597-26244597 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.246A>G (p.Ala82=) SNV Conflicting interpretations of pathogenicity 92599 rs151302743 2:26492857-26492857 2:26269989-26269989 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1947T>A (p.Asn649Lys) SNV Conflicting interpretations of pathogenicity 728421 2:26415232-26415232 2:26192363-26192363 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.1206C>T (p.Tyr402=) SNV Conflicting interpretations of pathogenicity 703153 2:26507807-26507807 2:26284939-26284939 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.189A>G (p.Thr63=) SNV Conflicting interpretations of pathogenicity 752873 2:26459848-26459848 2:26236980-26236980 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1843A>G (p.Asn615Asp) SNV Conflicting interpretations of pathogenicity 449769 rs61731155 2:26416488-26416488 2:26193619-26193619 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.2175C>T (p.Gly725=) SNV Conflicting interpretations of pathogenicity 512927 rs375399631 2:26414236-26414236 2:26191367-26191367 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.900C>T (p.Tyr300=) SNV Conflicting interpretations of pathogenicity 509470 rs144093705 2:26502950-26502950 2:26280082-26280082 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1284C>T (p.Asn428=) SNV Conflicting interpretations of pathogenicity 507903 rs199535840 2:26424126-26424126 2:26201257-26201257 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1465A>G (p.Lys489Glu) SNV Conflicting interpretations of pathogenicity 495725 rs145422395 2:26420574-26420574 2:26197705-26197705 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.589G>T (p.Ala197Ser) SNV Conflicting interpretations of pathogenicity 536659 rs116320983 2:26453147-26453147 2:26230279-26230279 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.652G>C (p.Val218Leu) SNV Conflicting interpretations of pathogenicity 570809 rs71441018 2:26453084-26453084 2:26230216-26230216 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1788G>A (p.Ala596=) SNV Conflicting interpretations of pathogenicity 389019 rs190409957 2:26416543-26416543 2:26193674-26193674 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.2147-8C>G SNV Conflicting interpretations of pathogenicity 335373 rs368976628 2:26414272-26414272 2:26191403-26191403 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1212G>C (p.Val404=) SNV Conflicting interpretations of pathogenicity 335381 rs116396996 2:26426939-26426939 2:26204070-26204070 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.858G>A (p.Val286=) SNV Conflicting interpretations of pathogenicity 335383 rs373864418 2:26437372-26437372 2:26214503-26214503 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1794T>C (p.His598=) SNV Conflicting interpretations of pathogenicity 335377 rs149021400 2:26416537-26416537 2:26193668-26193668 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1690-13G>A SNV Conflicting interpretations of pathogenicity 335378 rs368557552 2:26416654-26416654 2:26193785-26193785 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.585T>A (p.Pro195=) SNV Conflicting interpretations of pathogenicity 335385 rs202034466 2:26453151-26453151 2:26230283-26230283 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1655C>T (p.Ala552Val) SNV Uncertain significance 335380 rs369588406 2:26417473-26417473 2:26194604-26194604 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.932G>C (p.Gly311Ala) SNV Uncertain significance 335382 rs886055862 2:26435482-26435482 2:26212613-26212613 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.*373_*374GT[1] short repeat Uncertain significance 335369 rs886055861 2:26413743-26413744 2:26190874-26190875 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1912A>G (p.Ile638Val) SNV Uncertain significance 335375 rs545660610 2:26415267-26415267 2:26192398-26192398 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.*380A>G SNV Uncertain significance 335416 rs886055870 2:26513201-26513201 2:26290333-26290333 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.79C>T (p.Arg27Cys) SNV Uncertain significance 335388 rs143832445 2:26462000-26462000 2:26239132-26239132 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_001281512.1(HADHB):c.-202G>A SNV Uncertain significance 335394 rs886055865 2:26467665-26467665 2:26244797-26244797 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_001281512.1(HADHB):c.-173T>C SNV Uncertain significance 335398 rs749979964 2:26467694-26467694 2:26244826-26244826 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_001281512.1(HADHB):c.-124C>G SNV Uncertain significance 335399 rs575302805 2:26467743-26467743 2:26244875-26244875 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.*241T>G SNV Uncertain significance 335412 rs886055867 2:26513062-26513062 2:26290194-26290194 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.*244T>G SNV Uncertain significance 335413 rs886055868 2:26513065-26513065 2:26290197-26290197 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.*268G>A SNV Uncertain significance 335414 rs886055869 2:26513089-26513089 2:26290221-26290221 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.*405C>T SNV Uncertain significance 335367 rs886055859 2:26413714-26413714 2:26190845-26190845 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.*389C>G SNV Uncertain significance 335368 rs886055860 2:26413730-26413730 2:26190861-26190861 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.*355C>T SNV Uncertain significance 335370 rs539549041 2:26413764-26413764 2:26190895-26190895 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.2113G>A (p.Val705Ile) SNV Uncertain significance 335374 rs146406360 2:26414385-26414385 2:26191516-26191516 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.454-13C>T SNV Uncertain significance 335387 rs367636661 2:26455160-26455160 2:26232292-26232292 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.16G>C (p.Ala6Pro) SNV Uncertain significance 335390 rs150565988 2:26467449-26467449 2:26244581-26244581 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.4(HADHA):c.-37T>C SNV Uncertain significance 335391 rs528818728 2:26467501-26467501 2:26244633-26244633 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_001281512.1(HADHB):c.-235del deletion Uncertain significance 335392 rs886055864 2:26467632-26467632 2:26244764-26244764 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_001281512.1(HADHB):c.-176G>T SNV Uncertain significance 335397 rs574318006 2:26467691-26467691 2:26244823-26244823 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.560A>G (p.Asn187Ser) SNV Uncertain significance 335405 rs138696018 2:26501599-26501599 2:26278731-26278731 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.676+6T>C SNV Uncertain significance 335384 rs886055863 2:26453054-26453054 2:26230186-26230186 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.560G>C (p.Arg187Thr) SNV Uncertain significance 335386 rs146667859 2:26455041-26455041 2:26232173-26232173 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.*494G>T SNV Uncertain significance 335364 rs886055856 2:26413625-26413625 2:26190756-26190756 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.*489G>A SNV Uncertain significance 335365 rs886055857 2:26413630-26413630 2:26190761-26190761 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.*458_*459TG[3] short repeat Uncertain significance 335366 rs146500488 2:26413654-26413655 2:26190785-26190786 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1829G>A (p.Arg610Gln) SNV Uncertain significance 335376 rs373966336 2:26416502-26416502 2:26193633-26193633 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.-9+11G>C SNV Uncertain significance 335400 rs886055866 2:26467869-26467869 2:26245001-26245001 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.210-5C>A SNV Uncertain significance 335403 rs763169112 2:26492816-26492816 2:26269948-26269948 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.272C>T (p.Thr91Ile) SNV Uncertain significance 335404 rs145712438 2:26496536-26496536 2:26273668-26273668 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.712C>T (p.Arg238Trp) SNV Uncertain significance 335406 rs764006338 2:26502084-26502084 2:26279216-26279216 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1196G>A (p.Arg399Gln) SNV Uncertain significance 570488 rs200715496 2:26426955-26426955 2:26204086-26204086 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.362T>C (p.Leu121Pro) SNV Uncertain significance 567723 rs773127211 2:26499948-26499948 2:26277080-26277080 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.1390-2A>G SNV Uncertain significance 567720 rs1297095534 2:26512784-26512784 2:26289916-26289916 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1712T>C (p.Leu571Pro) SNV Uncertain significance 550418 rs1553312058 2:26416619-26416619 2:26193750-26193750 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.425A>G (p.Asn142Ser) SNV Uncertain significance 641541 2:26457113-26457113 2:26234245-26234245 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.325G>A (p.Ala109Thr) SNV Uncertain significance 646417 2:26457213-26457213 2:26234345-26234345 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.754G>A (p.Ala252Thr) SNV Uncertain significance 664748 2:26502126-26502126 2:26279258-26279258 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.694G>A (p.Ala232Thr) SNV Uncertain significance 587640 rs987203346 2:26502066-26502066 2:26279198-26279198 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.491G>A (p.Gly164Asp) SNV Uncertain significance 599062 rs1558356679 2:26501530-26501530 2:26278662-26278662 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.1148C>T (p.Ser383Leu) SNV Uncertain significance 632356 rs144711755 2:26507071-26507071 2:26284203-26284203 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.2215G>T (p.Ala739Ser) SNV Uncertain significance 657134 2:26414196-26414196 2:26191327-26191327 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1772T>G (p.Val591Gly) SNV Uncertain significance 659825 2:26416559-26416559 2:26193690-26193690 MTC027 Mitochondrial Trifunctional Protein Deficiency GAREM2 NM_000182.5(HADHA):c.2131C>T (p.Pro711Ser) SNV Uncertain significance 522963 rs138966725 2:26414367-26414367 2:26191498-26191498 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.2131C>T (p.Pro711Ser) SNV Uncertain significance 522963 rs138966725 2:26414367-26414367 2:26191498-26191498 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.266A>G (p.His89Arg) SNV Uncertain significance 536657 rs373356931 2:26496530-26496530 2:26273662-26273662 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.565G>A (p.Ala189Thr) SNV Uncertain significance 424236 rs143683481 2:26501604-26501604 2:26278736-26278736 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.1417C>A (p.Pro473Thr) SNV Uncertain significance 468765 rs942477332 2:26512813-26512813 2:26289945-26289945 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.589T>C (p.Ser197Pro) SNV Uncertain significance 450898 rs142475516 2:26501628-26501628 2:26278760-26278760 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.584G>A (p.Arg195Gln) SNV Uncertain significance 468767 rs764507324 2:26501623-26501623 2:26278755-26278755 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.677-3T>C SNV Uncertain significance 653490 2:26438047-26438047 2:26215178-26215178 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.808G>A (p.Ala270Thr) SNV Uncertain significance 665682 2:26437422-26437422 2:26214553-26214553 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.919A>G (p.Asn307Asp) SNV Uncertain significance 225384 rs769558977 2:26502969-26502969 2:26280101-26280101 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.397A>G (p.Thr133Ala) SNV Uncertain significance 235337 rs371159065 2:26499983-26499983 2:26277115-26277115 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA insertion Uncertain significance 870260 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.*586G>A SNV Uncertain significance 895644 2:26413533-26413533 2:26190664-26190664 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1162A>T (p.Ile388Leu) SNV Uncertain significance 844920 2:26426989-26426989 2:26204120-26204120 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.896C>A (p.Pro299His) SNV Uncertain significance 854152 2:26437334-26437334 2:26214465-26214465 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.431C>T (p.Ser144Phe) SNV Uncertain significance 836141 2:26457107-26457107 2:26234239-26234239 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.1115A>T (p.Asp372Val) SNV Uncertain significance 849588 2:26507038-26507038 2:26284170-26284170 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.1123G>A (p.Ala375Thr) SNV Uncertain significance 845143 2:26507046-26507046 2:26284178-26284178 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1789A>G (p.Lys597Glu) SNV Uncertain significance 847236 2:26416542-26416542 2:26193673-26193673 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.*437T>A SNV Uncertain significance 897058 2:26413682-26413682 2:26190813-26190813 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.*403C>T SNV Uncertain significance 897539 2:26413716-26413716 2:26190847-26190847 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1689+11C>T SNV Uncertain significance 896065 2:26417428-26417428 2:26194559-26194559 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.64+15A>T SNV Uncertain significance 896201 2:26477201-26477201 2:26254333-26254333 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.443-10T>C SNV Uncertain significance 897804 2:26501472-26501472 2:26278604-26278604 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.*239C>T SNV Uncertain significance 898691 2:26413880-26413880 2:26191011-26191011 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.*182C>T SNV Uncertain significance 895708 2:26413937-26413937 2:26191068-26191068 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.*110G>A SNV Uncertain significance 895709 2:26414009-26414009 2:26191140-26191140 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.*103A>T SNV Uncertain significance 895710 2:26414016-26414016 2:26191147-26191147 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.*59C>T SNV Uncertain significance 895994 2:26414060-26414060 2:26191191-26191191 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.*46G>A SNV Uncertain significance 895995 2:26414073-26414073 2:26191204-26191204 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.2192A>T (p.Asp731Val) SNV Uncertain significance 895996 2:26414219-26414219 2:26191350-26191350 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.2037A>G (p.Thr679=) SNV Uncertain significance 897592 2:26414461-26414461 2:26191592-26191592 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.869T>C (p.Val290Ala) SNV Uncertain significance 898819 2:26437361-26437361 2:26214492-26214492 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.27C>T (p.Ile9=) SNV Uncertain significance 897732 2:26467438-26467438 2:26244570-26244570 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.-53C>T SNV Uncertain significance 895923 2:26467814-26467814 2:26244946-26244946 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.635C>T (p.Pro212Leu) SNV Uncertain significance 897805 2:26502007-26502007 2:26279139-26279139 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.640G>A (p.Val214Ile) SNV Uncertain significance 897806 2:26502012-26502012 2:26279144-26279144 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.994A>G (p.Lys332Glu) SNV Uncertain significance 898960 2:26505773-26505773 2:26282905-26282905 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.1336C>T (p.Arg446Trp) SNV Uncertain significance 894830 2:26508386-26508386 2:26285518-26285518 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.1343A>G (p.Glu448Gly) SNV Uncertain significance 894831 2:26508393-26508393 2:26285525-26285525 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.*43C>T SNV Uncertain significance 894832 2:26512864-26512864 2:26289996-26289996 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.*500G>A SNV Likely benign 896270 2:26513321-26513321 2:26290453-26290453 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1629T>C (p.Pro543=) SNV Likely benign 703103 2:26417499-26417499 2:26194630-26194630 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.810G>A (p.Ala270=) SNV Likely benign 703159 2:26437420-26437420 2:26214551-26214551 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.1119T>C (p.Ile373=) SNV Likely benign 706365 2:26507042-26507042 2:26284174-26284174 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1389A>G (p.Glu463=) SNV Likely benign 725385 2:26424021-26424021 2:26201152-26201152 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1140C>T (p.Ser380=) SNV Likely benign 733051 2:26427011-26427011 2:26204142-26204142 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1014C>T (p.Ala338=) SNV Likely benign 725225 2:26432720-26432720 2:26209851-26209851 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.157C>A (p.Arg53=) SNV Likely benign 725402 2:26461825-26461825 2:26238957-26238957 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.209+7A>G SNV Likely benign 733600 2:26486354-26486354 2:26263486-26263486 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.2112C>T (p.Ala704=) SNV Likely benign 745142 2:26414386-26414386 2:26191517-26191517 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1209A>G (p.Gln403=) SNV Likely benign 746477 2:26426942-26426942 2:26204073-26204073 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.954C>T (p.Ala318=) SNV Likely benign 741764 2:26435460-26435460 2:26212591-26212591 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1935G>A (p.Arg645=) SNV Likely benign 763510 2:26415244-26415244 2:26192375-26192375 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.816C>A (p.Ala272=) SNV Likely benign 757284 2:26437414-26437414 2:26214545-26214545 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.661C>T (p.Leu221=) SNV Likely benign 763808 2:26453075-26453075 2:26230207-26230207 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.799+8T>A SNV Likely benign 760418 2:26437914-26437914 2:26215045-26215045 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1620+9C>T SNV Likely benign 766611 2:26417952-26417952 2:26195083-26195083 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1621-7T>C SNV Likely benign 750808 2:26417514-26417514 2:26194645-26194645 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1971G>A (p.Ala657=) SNV Likely benign 792572 2:26415208-26415208 2:26192339-26192339 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1854G>C (p.Leu618=) SNV Likely benign 793057 2:26416477-26416477 2:26193608-26193608 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1044G>A (p.Leu348=) SNV Likely benign 794895 2:26432690-26432690 2:26209821-26209821 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.882T>C (p.Thr294=) SNV Likely benign 798795 2:26437348-26437348 2:26214479-26214479 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.777G>A (p.Lys259=) SNV Likely benign 799918 2:26437944-26437944 2:26215075-26215075 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.2000+9G>A SNV Likely benign 702790 2:26415170-26415170 2:26192301-26192301 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.1098A>T (p.Ala366=) SNV Likely benign 713440 2:26507021-26507021 2:26284153-26284153 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.80G>T (p.Arg27Leu) SNV Likely benign 833917 2:26461999-26461999 2:26239131-26239131 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.809C>T (p.Ala270Val) SNV Likely benign 468768 rs141429393 2:26437421-26437421 2:26214552-26214552 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.2133G>A (p.Pro711=) SNV Likely benign 516937 rs186499456 2:26414365-26414365 2:26191496-26191496 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1620+9C>G SNV Likely benign 509276 rs772786562 2:26417952-26417952 2:26195083-26195083 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.210-9G>A SNV Likely benign 509444 rs538575997 2:26492812-26492812 2:26269944-26269944 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.423C>T (p.Ala141=) SNV Likely benign 536658 rs374569092 2:26500009-26500009 2:26277141-26277141 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.264C>T (p.Ala88=) SNV Likely benign 536661 rs755713464 2:26459773-26459773 2:26236905-26236905 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_001281512.1(HADHB):c.-185G>C SNV Likely benign 335396 rs367712851 2:26467682-26467682 2:26244814-26244814 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_001281512.1(HADHB):c.-185G>C SNV Likely benign 335396 rs367712851 2:26467682-26467682 2:26244814-26244814 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_001281512.1(HADHB):c.-214C>T SNV Likely benign 335393 rs72809668 2:26467653-26467653 2:26244785-26244785 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_001281512.1(HADHB):c.-214C>T SNV Likely benign 335393 rs72809668 2:26467653-26467653 2:26244785-26244785 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1690-14C>T SNV Likely benign 335379 rs142401180 2:26416655-26416655 2:26193786-26193786 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.64+11T>C SNV Likely benign 335401 rs57709136 2:26477197-26477197 2:26254329-26254329 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.68-10T>G SNV Benign/Likely benign 335389 rs144414842 2:26462021-26462021 2:26239153-26239153 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.135G>A (p.Thr45=) SNV Benign/Likely benign 335402 rs574464531 2:26486273-26486273 2:26263405-26263405 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.1371G>A (p.Ala457=) SNV Benign/Likely benign 335408 rs72851542 2:26508421-26508421 2:26285553-26285553 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys) SNV Benign/Likely benign 235806 rs2229420 2:26432662-26432662 2:26209793-26209793 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1981C>T (p.Leu661=) SNV Benign/Likely benign 92595 rs142348718 2:26415198-26415198 2:26192329-26192329 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.474C>T (p.Tyr158=) SNV Benign 92596 rs11552518 2:26455127-26455127 2:26232259-26232259 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.1149+4A>T SNV Benign 92597 rs2303893 2:26507076-26507076 2:26284208-26284208 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.5_7dup (p.Thr2dup) duplication Benign 92600 rs3839049 2:26477125-26477126 2:26254257-26254258 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1620+11G>C SNV Benign 137531 rs112236946 2:26417950-26417950 2:26195081-26195081 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.966G>A (p.Ala322=) SNV Benign 137532 rs7572240 2:26505745-26505745 2:26282877-26282877 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.1014-14A>G SNV Benign 137533 rs17528590 2:26505858-26505858 2:26282990-26282990 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.*510A>T SNV Benign 335363 rs13432453 2:26413609-26413609 2:26190740-26190740 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1690-6G>A SNV Benign 203739 rs111662358 2:26416647-26416647 2:26193778-26193778 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.1392+10G>A SNV Benign 203738 rs60085478 2:26424008-26424008 2:26201139-26201139 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.573+8dup duplication Benign 203737 rs112196218 2:26455019-26455020 2:26232151-26232152 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.780C>T (p.Leu260=) SNV Benign 203748 rs7607527 2:26502152-26502152 2:26279284-26279284 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.812-5A>T SNV Benign 203749 rs72851534 2:26502857-26502857 2:26279989-26279989 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.830A>G (p.Lys277Arg) SNV Benign 203750 rs57969630 2:26502880-26502880 2:26280012-26280012 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.891C>T (p.Ile297=) SNV Benign 203751 rs56902571 2:26502941-26502941 2:26280073-26280073 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.*331T>C SNV Benign 898690 2:26413788-26413788 2:26190919-26190919 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.*561C>T SNV Benign 895645 2:26413558-26413558 2:26190689-26190689 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.2060T>C (p.Met687Thr) SNV Benign 705774 2:26414438-26414438 2:26191569-26191569 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_001281512.1(HADHB):c.-201G>A SNV Benign 335395 rs3806516 2:26467666-26467666 2:26244798-26244798 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_001281512.1(HADHB):c.-201G>A SNV Benign 335395 rs3806516 2:26467666-26467666 2:26244798-26244798 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.*486G>A SNV Benign 335417 rs7601689 2:26513307-26513307 2:26290439-26290439 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.*302G>A SNV Benign 335371 rs1049987 2:26413817-26413817 2:26190948-26190948 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.*52A>G SNV Benign 335409 rs183649494 2:26512873-26512873 2:26290005-26290005 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.*351C>G SNV Benign 335415 rs7575987 2:26513172-26513172 2:26290304-26290304 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHA NM_000182.5(HADHA):c.*202G>A SNV Benign 335372 rs7260 2:26413917-26413917 2:26191048-26191048 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.825T>C (p.Val275=) SNV Benign 335407 rs1056389 2:26502875-26502875 2:26280007-26280007 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.*136G>C SNV Benign 335410 rs1056471 2:26512957-26512957 2:26290089-26290089 MTC027 Mitochondrial Trifunctional Protein Deficiency HADHB NM_000183.3(HADHB):c.*196A>G SNV Benign 335411 rs7586822 2:26513017-26513017 2:26290149-26290149 MTC027 Mitochondrial Trifunctional Protein Deficiency TBK1 NM_013254.4(TBK1):c.2115_2127del (p.Glu706fs) deletion other 266067 rs1131690784 12:64891795-64891807 12:64498015-64498027 MTR014 Motor Neuron Disease NEK1 NM_012224.3(NEK1):c.1864del (p.Gln622fs) deletion other 266042 rs1131690774 4:170428247-170428247 4:169507096-169507096 MTR014 Motor Neuron Disease NEK1 NM_012224.3(NEK1):c.481C>T (p.Arg161Ter) SNV other 266058 rs202115635 4:170509870-170509870 4:169588719-169588719 MTR014 Motor Neuron Disease NEK1 NM_012224.3(NEK1):c.214+1G>A SNV other 266055 rs1049502301 4:170523158-170523158 4:169602007-169602007 MTR014 Motor Neuron Disease TBK1 NM_013254.4(TBK1):c.1432del (p.Thr478fs) deletion other 266066 rs1131690783 12:64882353-64882353 12:64488573-64488573 MTR014 Motor Neuron Disease TBK1 NM_013254.4(TBK1):c.1330C>T (p.Arg444Ter) SNV Pathogenic 266072 rs142030898 12:64879787-64879787 12:64486007-64486007 MTR014 Motor Neuron Disease TARDBP NM_007375.3(TARDBP):c.1043G>T (p.Gly348Val) SNV Pathogenic 266064 rs1131690782 1:11082509-11082509 1:11022452-11022452 MTR014 Motor Neuron Disease SOD1 NM_000454.4(SOD1):c.341T>C (p.Ile114Thr) SNV Pathogenic 197145 rs121912441 21:33039672-33039672 21:31667359-31667359 MTR014 Motor Neuron Disease SOD1 NM_000454.4(SOD1):c.112G>A (p.Gly38Arg) SNV Pathogenic 14752 rs121912431 21:33036142-33036142 21:31663829-31663829 MTR014 Motor Neuron Disease SOD1 NM_000454.4(SOD1):c.302A>G (p.Glu101Gly) SNV Pathogenic 14761 rs121912439 21:33039633-33039633 21:31667320-31667320 MTR014 Motor Neuron Disease SOD1 NM_000454.4(SOD1):c.280G>C (p.Gly94Arg) SNV Pathogenic 14784 rs121912437 21:33039611-33039611 21:31667298-31667298 MTR014 Motor Neuron Disease SOD1 NM_000454.4(SOD1):c.437C>A (p.Ala146Asp) SNV Likely pathogenic 266063 rs1131690781 21:33040863-33040863 21:31668550-31668550 MTR014 Motor Neuron Disease NEK1 NM_012224.3(NEK1):c.3056C>T (p.Ser1019Leu) SNV Likely pathogenic 266054 rs377607698 4:170345786-170345786 4:169424635-169424635 MTR014 Motor Neuron Disease OPTN NM_001008212.2(OPTN):c.280A>C (p.Lys94Gln) SNV Likely pathogenic 266059 rs895824243 10:13152387-13152387 10:13110387-13110387 MTR014 Motor Neuron Disease OPTN NM_001008212.2(OPTN):c.1403T>G (p.Met468Arg) SNV Likely pathogenic 266062 rs747481280 10:13174068-13174068 10:13132068-13132068 MTR014 Motor Neuron Disease TBK1 NM_013254.4(TBK1):c.452C>T (p.Ser151Phe) SNV Likely pathogenic 266068 rs55824172 12:64860774-64860774 12:64466994-64466994 MTR014 Motor Neuron Disease NEK1 NM_012224.3(NEK1):c.386T>G (p.Ile129Ser) SNV Likely pathogenic 266043 rs1131690775 4:170511887-170511887 4:169590736-169590736 MTR014 Motor Neuron Disease NEK1 NM_012224.3(NEK1):c.695G>A (p.Arg232His) SNV Conflicting interpretations of pathogenicity 266044 rs772747361 4:170506612-170506612 4:169585461-169585461 MTR014 Motor Neuron Disease NEK1 NM_012224.3(NEK1):c.1705T>A (p.Phe569Ile) SNV Conflicting interpretations of pathogenicity 266048 rs776098853 4:170429443-170429443 4:169508292-169508292 MTR014 Motor Neuron Disease NEK1 NM_012224.3(NEK1):c.1666-5T>C SNV Conflicting interpretations of pathogenicity 266056 rs199522035 4:170429487-170429487 4:169508336-169508336 MTR014 Motor Neuron Disease NEK1 NM_012224.3(NEK1):c.1137T>A (p.Asp379Glu) SNV Conflicting interpretations of pathogenicity 266047 rs372585344 4:170482986-170482986 4:169561835-169561835 MTR014 Motor Neuron Disease NEK1 NM_012224.3(NEK1):c.1021G>A (p.Ala341Thr) SNV Conflicting interpretations of pathogenicity 266046 rs189186475 4:170483347-170483347 4:169562196-169562196 MTR014 Motor Neuron Disease TBK1 NM_013254.4(TBK1):c.829C>G (p.Leu277Val) SNV Conflicting interpretations of pathogenicity 266069 rs905184241 12:64875638-64875638 12:64481858-64481858 MTR014 Motor Neuron Disease OPTN NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu) SNV Conflicting interpretations of pathogenicity 266060 rs142812715 10:13166053-13166053 10:13124053-13124053 MTR014 Motor Neuron Disease NEK1 NM_012224.3(NEK1):c.2222A>G (p.His741Arg) SNV Conflicting interpretations of pathogenicity 266050 rs375173827 4:170398403-170398403 4:169477252-169477252 MTR014 Motor Neuron Disease NEK1 NM_012224.3(NEK1):c.2151T>G (p.Asn717Lys) SNV Conflicting interpretations of pathogenicity 266051 rs34324114 4:170398474-170398474 4:169477323-169477323 MTR014 Motor Neuron Disease NEK1 NM_012224.3(NEK1):c.2053G>A (p.Val685Met) SNV Conflicting interpretations of pathogenicity 266049 rs199827465 4:170400556-170400556 4:169479405-169479405 MTR014 Motor Neuron Disease NEK1 NM_012224.3(NEK1):c.782G>A (p.Arg261His) SNV Conflicting interpretations of pathogenicity 199125 rs200161705 4:170506525-170506525 4:169585374-169585374 MTR014 Motor Neuron Disease TARDBP NM_007375.3(TARDBP):c.859G>A (p.Gly287Ser) SNV Conflicting interpretations of pathogenicity 21483 rs80356719 1:11082325-11082325 1:11022268-11022268 MTR014 Motor Neuron Disease NEK1 NM_012224.3(NEK1):c.1827_1828insTATA (p.Ala610fs) insertion Uncertain significance 266057 rs1131690779 4:170428865-170428866 4:169507714-169507715 MTR014 Motor Neuron Disease TARDBP NM_007375.3(TARDBP):c.1122T>G (p.Tyr374Ter) SNV Uncertain significance 266065 rs147795017 1:11082588-11082588 1:11022531-11022531 MTR014 Motor Neuron Disease OPTN NM_001008212.2(OPTN):c.1337A>G (p.Glu446Gly) SNV Uncertain significance 266061 rs1131690780 10:13169839-13169839 10:13127839-13127839 MTR014 Motor Neuron Disease TBK1 NM_013254.4(TBK1):c.1135A>G (p.Ile379Val) SNV Uncertain significance 266070 rs748864346 12:64878225-64878225 12:64484445-64484445 MTR014 Motor Neuron Disease NEK1 NM_012224.3(NEK1):c.827G>T (p.Cys276Phe) SNV Uncertain significance 266045 rs1131690776 4:170502034-170502034 4:169580883-169580883 MTR014 Motor Neuron Disease GARS1 NM_002047.4(GARS1):c.123_124insG (p.Pro42fs) insertion Uncertain significance 549699 rs1554336520 7:30634660-30634661 7:30595044-30595045 MTR014 Motor Neuron Disease TBK1 NM_013254.4(TBK1):c.1508C>T (p.Thr503Ile) SNV Uncertain significance 266071 rs779715292 12:64883886-64883886 12:64490106-64490106 MTR014 Motor Neuron Disease NEK1 NM_012224.3(NEK1):c.2308C>G (p.Leu770Val) SNV Likely benign 266053 rs1131690778 4:170398317-170398317 4:169477166-169477166 MTR014 Motor Neuron Disease NEK1 NM_012224.3(NEK1):c.2284G>A (p.Ala762Thr) SNV Likely benign 266052 rs1131690777 4:170398341-170398341 4:169477190-169477190 MTR014 Motor Neuron Disease MPV17 NM_002437.5(MPV17):c.206G>A (p.Trp69Ter) SNV Pathogenic/Likely pathogenic 38348 rs267607261 2:27535620-27535620 2:27312753-27312753 MPV002 Mpv17-Related Mitochondrial Dna Maintenance Defect MPV17 NM_002437.5(MPV17):c.376-9T>G SNV Conflicting interpretations of pathogenicity 593343 rs368900406 2:27535123-27535123 2:27312255-27312255 MPV002 Mpv17-Related Mitochondrial Dna Maintenance Defect TRIM37 TRIM37, 5-BP DEL, NT493 deletion Pathogenic 5240 MLB001 Mulibrey Nanism TRIM37 TRIM37, 1-BP DEL, 2212G deletion Pathogenic 5241 MLB001 Mulibrey Nanism TRIM37 TRIM37, 5-BP DEL, NT838 deletion Pathogenic 5242 MLB001 Mulibrey Nanism TRIM37 TRIM37, 1-BP INS, 1346A insertion Pathogenic 5243 MLB001 Mulibrey Nanism TRIM37 TRIM37, 8-BP DEL, NT855 deletion Pathogenic 5244 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.326G>C (p.Cys109Ser) SNV Pathogenic 5245 rs121908391 17:57161406-57161406 17:59084045-59084045 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.181C>T (p.Arg61Ter) SNV Pathogenic 623386 rs373520509 17:57165752-57165752 17:59088391-59088391 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.1411C>T (p.Arg471Ter) SNV Pathogenic 56565 rs386834001 17:57126658-57126658 17:59049297-59049297 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.2212del (p.Glu738fs) deletion Pathogenic 56568 rs386833416 17:57105821-57105821 17:59028460-59028460 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.227T>C (p.Leu76Pro) SNV Likely pathogenic 56569 rs386834004 17:57165706-57165706 17:59088345-59088345 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.1153_1154insGACTTACTCGC (p.Ala385fs) insertion Likely pathogenic 666333 17:57134281-57134282 17:59056920-59056921 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.810-1G>A SNV Likely pathogenic 56571 rs386834006 17:57141767-57141767 17:59064406-59064406 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.838_842del (p.Thr280fs) deletion Likely pathogenic 56572 rs386834007 17:57141734-57141738 17:59064373-59064377 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.965G>T (p.Gly322Val) SNV Likely pathogenic 56574 rs386834009 17:57138447-57138447 17:59061086-59061086 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.1037_1040dup (p.Met347fs) duplication Likely pathogenic 56563 rs386833999 17:57134394-57134395 17:59057033-59057034 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.1894_1895del (p.Glu632fs) deletion Likely pathogenic 56566 rs386834002 17:57109310-57109311 17:59031949-59031950 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.2056C>T (p.Arg686Ter) SNV Likely pathogenic 56567 rs386834003 17:57105977-57105977 17:59028616-59028616 MLB001 Mulibrey Nanism SKA2 NC_000017.10:g.57075470_57235248del159779 deletion Likely pathogenic 599190 17:57075470-57235248 17:58998109-59157887 MLB001 Mulibrey Nanism TRIM37 NC_000017.10:g.57075470_57235248del159779 deletion Likely pathogenic 599190 17:57075470-57235248 17:58998109-59157887 MLB001 Mulibrey Nanism MIR301A NC_000017.10:g.57075470_57235248del159779 deletion Likely pathogenic 599190 17:57075470-57235248 17:58998109-59157887 MLB001 Mulibrey Nanism MIR454 NC_000017.10:g.57075470_57235248del159779 deletion Likely pathogenic 599190 17:57075470-57235248 17:58998109-59157887 MLB001 Mulibrey Nanism PRR11 NC_000017.10:g.57075470_57235248del159779 deletion Likely pathogenic 599190 17:57075470-57235248 17:58998109-59157887 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.860G>A (p.Ser287Asn) SNV Likely pathogenic 5246 rs386834008 17:57141716-57141716 17:59064355-59064355 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.1346dup (p.Ser450fs) duplication Likely pathogenic 56564 rs386834000 17:57126722-57126723 17:59049361-59049362 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.1919G>A (p.Arg640His) SNV Conflicting interpretations of pathogenicity 281137 rs112762655 17:57109286-57109286 17:59031925-59031925 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.1815C>T (p.Ser605=) SNV Conflicting interpretations of pathogenicity 324197 rs142101613 17:57109390-57109390 17:59032029-59032029 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.2430C>T (p.Pro810=) SNV Conflicting interpretations of pathogenicity 324195 rs147639509 17:57093117-57093117 17:59015756-59015756 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.2316A>G (p.Leu772=) SNV Uncertain significance 324196 rs765983264 17:57094727-57094727 17:59017366-59017366 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.2544G>A (p.Ala848=) SNV Uncertain significance 324192 rs532325984 17:57093003-57093003 17:59015642-59015642 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.-203C>A SNV Uncertain significance 324211 rs182346107 17:57184025-57184025 17:59106664-59106664 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.-18C>T SNV Uncertain significance 324209 rs779613026 17:57183840-57183840 17:59106479-59106479 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.2487G>T (p.Gln829His) SNV Uncertain significance 324194 rs886053176 17:57093060-57093060 17:59015699-59015699 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.1200-11A>G SNV Uncertain significance 324201 rs781195873 17:57128700-57128700 17:59051339-59051339 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.810-13dup duplication Uncertain significance 324206 rs367700401 17:57141768-57141769 17:59064407-59064408 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.-228C>G SNV Uncertain significance 324213 rs886053179 17:57184050-57184050 17:59106689-59106689 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.-335T>A SNV Uncertain significance 324218 rs886053183 17:57184157-57184157 17:59106796-59106796 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.*961A>G SNV Uncertain significance 324178 rs3826354 17:57075777-57075777 17:58998416-58998416 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.*369C>T SNV Uncertain significance 324185 rs375182197 17:57076369-57076369 17:58999008-58999008 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.*344G>A SNV Uncertain significance 324186 rs886053174 17:57076394-57076394 17:58999033-58999033 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.*235G>A SNV Uncertain significance 324187 rs779555532 17:57076503-57076503 17:58999142-58999142 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.*172C>T SNV Uncertain significance 324188 rs142113543 17:57076566-57076566 17:58999205-58999205 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.2676T>G (p.Ala892=) SNV Uncertain significance 324191 rs886053175 17:57089708-57089708 17:59012347-59012347 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.398C>G (p.Ala133Gly) SNV Uncertain significance 324208 rs61758100 17:57158552-57158552 17:59081191-59081191 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.-139G>A SNV Uncertain significance 324210 rs886053178 17:57183961-57183961 17:59106600-59106600 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.-296G>T SNV Uncertain significance 324216 rs886053181 17:57184118-57184118 17:59106757-59106757 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.-365G>A SNV Uncertain significance 324220 rs781390565 17:57184187-57184187 17:59106826-59106826 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.-389G>T SNV Uncertain significance 324221 rs886053184 17:57184211-57184211 17:59106850-59106850 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.*977del deletion Uncertain significance 324177 rs112918162 17:57075761-57075761 17:58998400-58998400 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.*836A>G SNV Uncertain significance 324179 rs142111745 17:57075902-57075902 17:58998541-58998541 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.-419G>T SNV Uncertain significance 324222 rs549763737 17:57184241-57184241 17:59106880-59106880 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.*1084C>T SNV Uncertain significance 324175 rs12451581 17:57075654-57075654 17:58998293-58998293 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.*1025A>G SNV Uncertain significance 324176 rs914 17:57075713-57075713 17:58998352-58998352 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.*381T>C SNV Uncertain significance 324184 rs886053173 17:57076357-57076357 17:58998996-58998996 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.2776G>T (p.Asp926Tyr) SNV Uncertain significance 324189 rs375437566 17:57078995-57078995 17:59001634-59001634 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.*622T>C SNV Uncertain significance 324183 rs886053172 17:57076116-57076116 17:58998755-58998755 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.2754T>C (p.His918=) SNV Uncertain significance 324190 rs746826852 17:57079017-57079017 17:59001656-59001656 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.1446C>T (p.Leu482=) SNV Uncertain significance 324199 rs774383633 17:57126623-57126623 17:59049262-59049262 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.1178A>G (p.Gln393Arg) SNV Uncertain significance 324202 rs761341418 17:57134257-57134257 17:59056896-59056896 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.943-7_943-5del short repeat Uncertain significance 324203 rs886053177 17:57138474-57138476 17:59061113-59061115 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.828C>T (p.Tyr276=) SNV Uncertain significance 324205 rs776019614 17:57141748-57141748 17:59064387-59064387 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.810-3del deletion Uncertain significance 324207 rs367700401 17:57141769-57141769 17:59064408-59064408 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.-230C>T SNV Uncertain significance 324214 rs886053180 17:57184052-57184052 17:59106691-59106691 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.-334C>G SNV Uncertain significance 324217 rs886053182 17:57184156-57184156 17:59106795-59106795 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.1870del (p.Asp624fs) deletion Uncertain significance 631780 rs1568027916 17:57109335-57109335 17:59031974-59031974 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.586C>T (p.Gln196Ter) SNV Uncertain significance 561179 rs1568191596 17:57157145-57157145 17:59079784-59079784 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.2036A>C (p.Lys679Thr) SNV Uncertain significance 587524 rs1568017495 17:57105997-57105997 17:59028636-59028636 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.2280G>A (p.Ser760=) SNV Uncertain significance 593640 rs767616734 17:57094763-57094763 17:59017402-59017402 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.745C>T (p.Gln249Ter) SNV Uncertain significance 56570 rs386834005 17:57148248-57148248 17:59070887-59070887 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.*1060C>G SNV Uncertain significance 891382 17:57075678-57075678 17:58998317-58998317 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.*1030T>C SNV Uncertain significance 891383 17:57075708-57075708 17:58998347-58998347 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.*1029A>G SNV Uncertain significance 891633 17:57075709-57075709 17:58998348-58998348 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.*963A>G SNV Uncertain significance 891634 17:57075775-57075775 17:58998414-58998414 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.*925G>T SNV Uncertain significance 891635 17:57075813-57075813 17:58998452-58998452 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.*663T>C SNV Uncertain significance 891636 17:57076075-57076075 17:58998714-58998714 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.*598C>T SNV Uncertain significance 889216 17:57076140-57076140 17:58998779-58998779 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.*594A>G SNV Uncertain significance 889217 17:57076144-57076144 17:58998783-58998783 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.*484G>A SNV Uncertain significance 889218 17:57076254-57076254 17:58998893-58998893 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.*118G>T SNV Uncertain significance 889898 17:57076620-57076620 17:58999259-58999259 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.2816C>T (p.Thr939Ile) SNV Uncertain significance 889899 17:57076817-57076817 17:58999456-58999456 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.2746G>A (p.Glu916Lys) SNV Uncertain significance 891443 17:57079025-57079025 17:59001664-59001664 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.2556G>A (p.Arg852=) SNV Uncertain significance 891445 17:57092991-57092991 17:59015630-59015630 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.2543C>T (p.Ala848Val) SNV Uncertain significance 891446 17:57093004-57093004 17:59015643-59015643 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.2367C>G (p.Asp789Glu) SNV Uncertain significance 891702 17:57094676-57094676 17:59017315-59017315 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.2282C>T (p.Pro761Leu) SNV Uncertain significance 891703 17:57094761-57094761 17:59017400-59017400 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.2262A>G (p.Thr754=) SNV Uncertain significance 891704 17:57094781-57094781 17:59017420-59017420 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.1750G>A (p.Ala584Thr) SNV Uncertain significance 889275 17:57119177-57119177 17:59041816-59041816 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.1700T>A (p.Met567Lys) SNV Uncertain significance 889276 17:57119227-57119227 17:59041866-59041866 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.1330C>T (p.Leu444=) SNV Uncertain significance 889960 17:57126739-57126739 17:59049378-59049378 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.1152C>T (p.Leu384=) SNV Uncertain significance 889962 17:57134283-57134283 17:59056922-59056922 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.796C>T (p.Pro266Ser) SNV Uncertain significance 891523 17:57148197-57148197 17:59070836-59070836 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.689G>A (p.Arg230Gln) SNV Uncertain significance 891524 17:57148304-57148304 17:59070943-59070943 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.685T>A (p.Leu229Met) SNV Uncertain significance 891525 17:57148308-57148308 17:59070947-59070947 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.-100C>T SNV Uncertain significance 891527 17:57183922-57183922 17:59106561-59106561 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.-244C>T SNV Uncertain significance 891770 17:57184066-57184066 17:59106705-59106705 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.2695+11A>G SNV Uncertain significance 891444 17:57089678-57089678 17:59012317-59012317 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.1667+9C>T SNV Uncertain significance 889277 17:57125035-57125035 17:59047674-59047674 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.1200-5T>C SNV Uncertain significance 889961 17:57128694-57128694 17:59051333-59051333 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.369+8G>C SNV Uncertain significance 891526 17:57161355-57161355 17:59083994-59083994 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.1754-3C>T SNV Likely benign 779174 17:57109454-57109454 17:59032093-59032093 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.*759T>C SNV Likely benign 324180 rs191702204 17:57075979-57075979 17:58998618-58998618 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.*658A>G SNV Likely benign 324181 rs553012670 17:57076080-57076080 17:58998719-58998719 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.1748C>A (p.Pro583His) SNV Benign/Likely benign 324198 rs147363016 17:57119179-57119179 17:59041818-59041818 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.2577-7C>G SNV Benign/Likely benign 281654 rs199694001 17:57089814-57089814 17:59012453-59012453 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.2049C>T (p.Ala683=) SNV Benign/Likely benign 194971 rs35871562 17:57105984-57105984 17:59028623-59028623 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.398C>T (p.Ala133Val) SNV Benign/Likely benign 198216 rs61758100 17:57158552-57158552 17:59081191-59081191 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.2512G>A (p.Val838Ile) SNV Benign 324193 rs7222388 17:57093035-57093035 17:59015674-59015674 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.-340T>G SNV Benign 324219 rs7503190 17:57184162-57184162 17:59106801-59106801 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.*634A>T SNV Benign 324182 rs28475409 17:57076104-57076104 17:58998743-58998743 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.*373A>G SNV Benign 889219 17:57076365-57076365 17:58999004-58999004 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.861-6C>T SNV Benign 324204 rs145324030 17:57140015-57140015 17:59062654-59062654 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.1264T>C (p.Leu422=) SNV Benign 324200 rs74586224 17:57128625-57128625 17:59051264-59051264 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.-224A>G SNV Benign 324212 rs11541295 17:57184046-57184046 17:59106685-59106685 MLB001 Mulibrey Nanism TRIM37 NM_015294.6(TRIM37):c.-236A>G SNV Benign 324215 rs371575547 17:57184058-57184058 17:59106697-59106697 MLB001 Mulibrey Nanism TRIM37 NM_001005207.3(TRIM37):c.-449dupC duplication Benign 369217 rs35129177 17:57184270-57184271 17:59106909-59106910 MLB001 Mulibrey Nanism ISCA1 NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys) SNV Pathogenic 375415 rs776679653 9:88881089-88881089 9:86266174-86266174 MLT027 Multiple Mitochondrial Dysfunctions Syndrome ISCA2 NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser) SNV Pathogenic/Likely pathogenic 183353 rs730882246 14:74961032-74961032 14:74494329-74494329 MLT027 Multiple Mitochondrial Dysfunctions Syndrome NFU1 NM_001002756.2(NFU1):c.-526_-525CG[1] short repeat Uncertain significance 336899 rs777119948 2:69664700-69664701 2:69437568-69437569 MLT027 Multiple Mitochondrial Dysfunctions Syndrome NFU1 NM_015700.4(NFU1):c.231-18dup duplication Uncertain significance 336890 rs372898848 2:69646748-69646749 2:69419616-69419617 MLT027 Multiple Mitochondrial Dysfunctions Syndrome NFU1 NFU1, 545G-A SNV Pathogenic 30699 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002755.4(NFU1):c.622G>T (p.Gly208Cys) SNV Pathogenic 30700 rs374514431 2:69627594-69627594 2:69400462-69400462 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_015700.4(NFU1):c.473+5G>A SNV Pathogenic 488563 rs756085990 2:69633149-69633149 2:69406017-69406017 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002755.4(NFU1):c.544C>T (p.Arg182Trp) SNV Pathogenic 488564 rs1354126704 2:69633155-69633155 2:69406023-69406023 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NC_000002.11:g.(?_69627476)_(69627690_?)dup duplication Likely pathogenic 647954 2:69627476-69627690 2:69400344-69400558 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002755.4(NFU1):c.485-1G>C SNV Likely pathogenic 804384 2:69633215-69633215 2:69406083-69406083 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002755.3(NFU1):c.166+8T>A SNV Conflicting interpretations of pathogenicity 336893 rs199927640 2:69659026-69659026 2:69431894-69431894 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002755.3(NFU1):c.62+10G>A SNV Conflicting interpretations of pathogenicity 336894 rs773351968 2:69664483-69664483 2:69437351-69437351 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002755.4(NFU1):c.-1G>A SNV Uncertain significance 336895 rs886056267 2:69664555-69664555 2:69437423-69437423 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002756.2(NFU1):c.-577G>A SNV Uncertain significance 336903 rs531177766 2:69664754-69664754 2:69437622-69437622 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002755.4(NFU1):c.495A>T (p.Glu165Asp) SNV Uncertain significance 336889 rs886056266 2:69633204-69633204 2:69406072-69406072 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002755.3(NFU1):c.299C>G (p.Ala100Gly) SNV Uncertain significance 336891 rs139171264 2:69650717-69650717 2:69423585-69423585 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002755.4(NFU1):c.629G>T (p.Cys210Phe) SNV Uncertain significance 336888 rs201634470 2:69627587-69627587 2:69400455-69400455 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002756.2(NFU1):c.-425G>A SNV Uncertain significance 336896 rs886056268 2:69664602-69664602 2:69437470-69437470 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002756.2(NFU1):c.-496G>A SNV Uncertain significance 336898 rs372505661 2:69664673-69664673 2:69437541-69437541 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002756.2(NFU1):c.-552G>T SNV Uncertain significance 336901 rs764708513 2:69664729-69664729 2:69437597-69437597 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002756.2(NFU1):c.-443C>T SNV Uncertain significance 336897 rs753424678 2:69664620-69664620 2:69437488-69437488 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002756.2(NFU1):c.-574T>G SNV Uncertain significance 336902 rs886056269 2:69664751-69664751 2:69437619-69437619 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002755.4(NFU1):c.*103G>A SNV Uncertain significance 336886 rs774104725 2:69623275-69623275 2:69396143-69396143 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002755.4(NFU1):c.702G>A (p.Glu234=) SNV Uncertain significance 336887 rs561482249 2:69627514-69627514 2:69400382-69400382 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002755.3(NFU1):c.167-13T>G SNV Uncertain significance 336892 rs181762580 2:69650862-69650862 2:69423730-69423730 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002755.4(NFU1):c.332G>T (p.Ser111Ile) SNV Uncertain significance 896543 2:69646707-69646707 2:69419575-69419575 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002755.4(NFU1):c.84T>A (p.Asn28Lys) SNV Uncertain significance 898173 2:69659116-69659116 2:69431984-69431984 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002755.4(NFU1):c.12G>A (p.Thr4=) SNV Uncertain significance 898174 2:69664543-69664543 2:69437411-69437411 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002755.4(NFU1):c.-7G>A SNV Uncertain significance 899272 2:69664561-69664561 2:69437429-69437429 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002756.2(NFU1):c.-418C>T SNV Uncertain significance 899273 2:69664595-69664595 2:69437463-69437463 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002756.2(NFU1):c.-511A>G SNV Uncertain significance 899274 2:69664688-69664688 2:69437556-69437556 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002756.2(NFU1):c.-556C>G SNV Uncertain significance 895184 2:69664733-69664733 2:69437601-69437601 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002755.3(NFU1):c.545+9T>C SNV Likely benign 539328 rs767405381 2:69633145-69633145 2:69406013-69406013 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002756.2(NFU1):c.-543T>C SNV Benign 336900 rs73934936 2:69664720-69664720 2:69437588-69437588 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002755.3(NFU1):c.286C>T (p.Arg96Cys) SNV Benign 138514 rs74637005 2:69650730-69650730 2:69423598-69423598 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002755.4(NFU1):c.411T>C (p.Ile137=) SNV Benign 138515 rs12474866 2:69642390-69642390 2:69415258-69415258 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002755.4(NFU1):c.74T>A (p.Met25Lys) SNV Benign 138516 rs4453725 2:69659126-69659126 2:69431994-69431994 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002755.4(NFU1):c.-6A>G SNV Benign 138517 rs116604978 2:69664560-69664560 2:69437428-69437428 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002755.3(NFU1):c.62+9C>T SNV Benign 138518 rs114846829 2:69664484-69664484 2:69437352-69437352 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 NFU1 NM_001002755.4(NFU1):c.151G>T (p.Ala51Ser) SNV Benign 214868 rs76646410 2:69659049-69659049 2:69431917-69431917 MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 BOLA3 NM_212552.3(BOLA3):c.136C>T (p.Arg46Ter) SNV Pathogenic 224514 rs143492730 2:74372349-74372349 2:74145222-74145222 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia BOLA3 NM_212552.3(BOLA3):c.200T>A (p.Ile67Asn) SNV Pathogenic 816698 2:74369457-74369457 2:74142330-74142330 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia BOLA3 NM_212552.3(BOLA3):c.220_222del (p.Glu74del) deletion Pathogenic 816938 2:74369435-74369437 2:74142308-74142310 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia BOLA3 NM_212552.3(BOLA3):c.123dup (p.Glu42fs) duplication Pathogenic 31020 rs869320737 2:74372361-74372362 2:74145234-74145235 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia BOLA3 NM_212552.3(BOLA3):c.319C>T (p.Arg107Cys) SNV Uncertain significance 214170 rs150626228 2:74362725-74362725 2:74135598-74135598 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia BOLA3 NM_212552.3(BOLA3):c.*134T>C SNV Uncertain significance 898379 2:74362586-74362586 2:74135459-74135459 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia BOLA3 NM_212552.3(BOLA3):c.21C>T (p.Ala7=) SNV Uncertain significance 895391 2:74374981-74374981 2:74147854-74147854 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia BOLA3 NM_212552.3(BOLA3):c.19G>A (p.Ala7Thr) SNV Uncertain significance 895392 2:74374983-74374983 2:74147856-74147856 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia BOLA3 NM_212552.3(BOLA3):c.256C>G (p.Gln86Glu) SNV Uncertain significance 337056 rs149964046 2:74369401-74369401 2:74142274-74142274 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia BOLA3 NM_212552.3(BOLA3):c.*31T>C SNV Uncertain significance 337055 rs886056326 2:74362689-74362689 2:74135562-74135562 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia BOLA3 NM_212552.3(BOLA3):c.-8G>A SNV Uncertain significance 337059 rs886056327 2:74375009-74375009 2:74147882-74147882 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia BOLA3 NM_212552.3(BOLA3):c.-35C>T SNV Uncertain significance 337060 rs761339384 2:74375036-74375036 2:74147909-74147909 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia BOLA3 NM_212552.3(BOLA3):c.*190G>A SNV Uncertain significance 337054 rs886056325 2:74362530-74362530 2:74135403-74135403 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia BOLA3 NM_212552.3(BOLA3):c.181G>A (p.Ala61Thr) SNV Uncertain significance 337057 rs747762311 2:74369476-74369476 2:74142349-74142349 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia BOLA3 NM_212552.3(BOLA3):c.137G>A (p.Arg46Gln) SNV Uncertain significance 337058 rs144366005 2:74372348-74372348 2:74145221-74145221 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia BOLA3 NM_212552.3(BOLA3):c.258+9A>C SNV Benign/Likely benign 390067 rs201380456 2:74369390-74369390 2:74142263-74142263 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia IBA57 NM_001010867.4(IBA57):c.586T>G (p.Trp196Gly) SNV Pathogenic 545646 rs1553264669 1:228362637-228362637 1:228174936-228174936 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.686C>T (p.Pro229Leu) SNV Pathogenic 545647 rs1553264725 1:228362829-228362829 1:228175128-228175128 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.706C>T (p.Pro236Ser) SNV Pathogenic 545648 rs769063859 1:228362849-228362849 1:228175148-228175148 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.286T>C (p.Tyr96His) SNV Pathogenic 545649 rs765926471 1:228353803-228353803 1:228166102-228166102 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.316A>G (p.Thr106Ala) SNV Pathogenic 545650 rs1053773776 1:228353833-228353833 1:228166132-228166132 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.697C>T (p.Arg233Ter) SNV Pathogenic 545651 rs1261081427 1:228362840-228362840 1:228175139-228175139 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.323A>C (p.Tyr108Ser) SNV Pathogenic 545652 rs781627051 1:228353840-228353840 1:228166139-228166139 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.940C>T (p.Gln314Ter) SNV Pathogenic 545653 rs1553264773 1:228363083-228363083 1:228175382-228175382 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.150C>A (p.Cys50Ter) SNV Pathogenic 545654 rs765132163 1:228353667-228353667 1:228165966-228165966 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.941A>C (p.Gln314Pro) SNV Pathogenic 56829 rs587777016 1:228363084-228363084 1:228175383-228175383 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.436C>T (p.Arg146Trp) SNV Pathogenic/Likely pathogenic 545645 rs73095427 1:228362487-228362487 1:228174786-228174786 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.313C>T (p.Arg105Trp) SNV Likely pathogenic 522951 rs1298056442 1:228353830-228353830 1:228166129-228166129 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.206T>C (p.Phe69Ser) SNV Uncertain significance 541312 rs778284446 1:228353723-228353723 1:228166022-228166022 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.335T>G (p.Leu112Trp) SNV Uncertain significance 541311 rs775646159 1:228353852-228353852 1:228166151-228166151 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.599C>T (p.Thr200Ile) SNV Uncertain significance 559322 rs149136930 1:228362650-228362650 1:228174949-228174949 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.190C>A (p.Pro64Thr) SNV Uncertain significance 844143 1:228353707-228353707 1:228166006-228166006 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.599C>G (p.Thr200Ser) SNV Uncertain significance 863483 1:228362650-228362650 1:228174949-228174949 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.989C>G (p.Pro330Arg) SNV Uncertain significance 841605 1:228363132-228363132 1:228175431-228175431 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.354C>A (p.His118Gln) SNV Uncertain significance 579645 rs1315886237 1:228362405-228362405 1:228174704-228174704 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.1033G>A (p.Ala345Thr) SNV Uncertain significance 572919 rs150912462 1:228363176-228363176 1:228175475-228175475 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.215G>C (p.Gly72Ala) SNV Uncertain significance 574590 rs1420144150 1:228353732-228353732 1:228166031-228166031 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.11C>T (p.Ala4Val) SNV Uncertain significance 651713 1:228353528-228353528 1:228165827-228165827 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.85T>G (p.Cys29Gly) SNV Uncertain significance 662694 1:228353602-228353602 1:228165901-228165901 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.259G>A (p.Gly87Arg) SNV Uncertain significance 639514 1:228353776-228353776 1:228166075-228166075 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.262G>A (p.Ala88Thr) SNV Uncertain significance 655156 1:228353779-228353779 1:228166078-228166078 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.384dup (p.Asp129Ter) duplication Uncertain significance 660906 1:228362434-228362435 1:228174733-228174734 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.150C>T (p.Cys50=) SNV Likely benign 707654 1:228353667-228353667 1:228165966-228165966 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.930C>G (p.Phe310Leu) SNV Likely benign 707076 1:228363073-228363073 1:228175372-228175372 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.680-5T>A SNV Likely benign 704824 1:228362818-228362818 1:228175117-228175117 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.780C>T (p.Tyr260=) SNV Likely benign 508383 rs202126055 1:228362923-228362923 1:228175222-228175222 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.961C>T (p.Leu321=) SNV Likely benign 541314 rs376206530 1:228363104-228363104 1:228175403-228175403 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.645C>T (p.Asp215=) SNV Benign/Likely benign 541313 rs61743941 1:228362696-228362696 1:228174995-228174995 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.264C>G (p.Ala88=) SNV Benign/Likely benign 382792 rs13375853 1:228353781-228353781 1:228166080-228166080 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.462C>T (p.His154=) SNV Benign 381420 rs148398789 1:228362513-228362513 1:228174812-228174812 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.980T>C (p.Ile327Thr) SNV Benign 559323 rs61745091 1:228363123-228363123 1:228175422-228175422 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 IBA57 NM_001010867.4(IBA57):c.210G>C (p.Leu70=) SNV Benign 559321 rs199589485 1:228353727-228353727 1:228166026-228166026 MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 ISCA2 NM_194279.4(ISCA2):c.334A>G (p.Ser112Gly) SNV Pathogenic 523611 rs767352340 14:74961572-74961572 14:74494869-74494869 MLT139 Multiple Mitochondrial Dysfunctions Syndrome 4 ISCA2 NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser) SNV Pathogenic/Likely pathogenic 183353 rs730882246 14:74961032-74961032 14:74494329-74494329 MLT139 Multiple Mitochondrial Dysfunctions Syndrome 4 ISCA2 NM_194279.4(ISCA2):c.297del (p.Phe99fs) deletion Likely pathogenic 545531 rs778755775 14:74961533-74961533 14:74494830-74494830 MLT139 Multiple Mitochondrial Dysfunctions Syndrome 4 ISCA2 NM_194279.4(ISCA2):c.355G>A (p.Ala119Thr) SNV Uncertain significance 638308 14:74961593-74961593 14:74494890-74494890 MLT139 Multiple Mitochondrial Dysfunctions Syndrome 4 ISCA1 NM_030940.4(ISCA1):c.29T>G (p.Val10Gly) SNV Pathogenic 695121 9:88897345-88897345 9:86282430-86282430 MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 ISCA1 NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys) SNV Pathogenic 375415 rs776679653 9:88881089-88881089 9:86266174-86266174 MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 PMPCB NM_004279.3(PMPCB):c.523C>T (p.Arg175Cys) SNV Pathogenic 523138 rs145596167 7:102944354-102944354 7:103303907-103303907 MLT167 Multiple Mitochondrial Dysfunctions Syndrome 6 PMPCB NM_004279.3(PMPCB):c.601G>C (p.Ala201Pro) SNV Pathogenic 523139 rs146343535 7:102944432-102944432 7:103303985-103303985 MLT167 Multiple Mitochondrial Dysfunctions Syndrome 6 PMPCB NM_004279.3(PMPCB):c.524G>A (p.Arg175His) SNV Pathogenic 523140 rs200188353 7:102944355-102944355 7:103303908-103303908 MLT167 Multiple Mitochondrial Dysfunctions Syndrome 6 PMPCB NM_004279.3(PMPCB):c.530T>G (p.Val177Gly) SNV Pathogenic 523141 rs1436866272 7:102944361-102944361 7:103303914-103303914 MLT167 Multiple Mitochondrial Dysfunctions Syndrome 6 PMPCB NM_004279.3(PMPCB):c.1265T>C (p.Ile422Thr) SNV Pathogenic 523142 rs1461200360 7:102952279-102952279 7:103311832-103311832 MLT167 Multiple Mitochondrial Dysfunctions Syndrome 6 CHKB NM_005198.4(CHKB):c.268del (p.His90fs) deletion Pathogenic 582773 rs1569054508 22:51020743-51020743 22:50582314-50582314 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.400C>T (p.Gln134Ter) SNV Pathogenic 468473 rs1333100080 22:51020225-51020225 22:50581796-50581796 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.382G>T (p.Glu128Ter) SNV Pathogenic 634595 rs1569054086 22:51020243-51020243 22:50581814-50581814 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.5(CHKB):c.598del (p.Gln200fs) deletion Pathogenic 639037 22:51019073-51019073 22:50580644-50580644 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.810T>A (p.Tyr270Ter) SNV Pathogenic 30952 rs750764003 22:51018627-51018627 22:50580198-50580198 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.116C>A (p.Ser39Ter) SNV Pathogenic 30953 rs387907068 22:51021095-51021095 22:50582666-50582666 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.458dup (p.Leu153fs) duplication Pathogenic 30954 rs786205117 22:51019971-51019972 22:50581542-50581543 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.922C>T (p.Gln308Ter) SNV Pathogenic 30955 rs387907069 22:51018408-51018408 22:50579979-50579979 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.677+1G>A SNV Pathogenic 30956 rs786205118 22:51018993-51018993 22:50580564-50580564 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NC_000022.11:g.(?_50579171)_(50582791_?)del deletion Pathogenic 659590 22:51017600-51021220 22:50579171-50582791 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.1129C>T (p.Arg377Trp) SNV Pathogenic 689474 22:51017669-51017669 22:50579240-50579240 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.1032-2A>G SNV Likely pathogenic 536363 rs1555894289 22:51017938-51017938 22:50579509-50579509 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.219C>T (p.Pro73=) SNV Conflicting interpretations of pathogenicity 389435 rs751273046 22:51020992-51020992 22:50582563-50582563 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.501T>G (p.Ile167Met) SNV Conflicting interpretations of pathogenicity 421602 rs199704510 22:51019929-51019929 22:50581500-50581500 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.263C>T (p.Pro88Leu) SNV Conflicting interpretations of pathogenicity 447030 rs146163970 22:51020748-51020748 22:50582319-50582319 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.138G>T (p.Glu46Asp) SNV Conflicting interpretations of pathogenicity 638334 22:51021073-51021073 22:50582644-50582644 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.983A>G (p.Gln328Arg) SNV Conflicting interpretations of pathogenicity 128730 rs141381896 22:51018204-51018204 22:50579775-50579775 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.670A>C (p.Asn224His) SNV Conflicting interpretations of pathogenicity 259661 rs149858290 22:51019001-51019001 22:50580572-50580572 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.457T>C (p.Leu153=) SNV Conflicting interpretations of pathogenicity 259659 rs146693439 22:51019973-51019973 22:50581544-50581544 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.5(CHKB):c.1114-6C>T SNV Conflicting interpretations of pathogenicity 706369 22:51017690-51017690 22:50579261-50579261 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.745T>C (p.Leu249=) SNV Conflicting interpretations of pathogenicity 342171 rs760310819 22:51018692-51018692 22:50580263-50580263 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.708C>T (p.Val236=) SNV Conflicting interpretations of pathogenicity 342173 rs141934594 22:51018815-51018815 22:50580386-50580386 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.*208T>G SNV Uncertain significance 342161 rs41281533 22:51017402-51017402 22:50578973-50578973 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.1114-3T>G SNV Uncertain significance 342165 rs886057638 22:51017687-51017687 22:50579258-50579258 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.944A>G (p.His315Arg) SNV Uncertain significance 342168 rs199641367 22:51018243-51018243 22:50579814-50579814 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.940C>T (p.Arg314Cys) SNV Uncertain significance 342169 rs200919604 22:51018247-51018247 22:50579818-50579818 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.692C>G (p.Ser231Cys) SNV Uncertain significance 342174 rs199783402 22:51018831-51018831 22:50580402-50580402 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.275C>T (p.Pro92Leu) SNV Uncertain significance 342175 rs140867913 22:51020736-51020736 22:50582307-50582307 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.722A>G (p.Asn241Ser) SNV Uncertain significance 342172 rs371751084 22:51018801-51018801 22:50580372-50580372 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.*126C>T SNV Uncertain significance 342163 rs112742765 22:51017484-51017484 22:50579055-50579055 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.1114-14G>A SNV Uncertain significance 342166 rs756289571 22:51017698-51017698 22:50579269-50579269 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.980C>T (p.Ser327Phe) SNV Uncertain significance 342167 rs371355721 22:51018207-51018207 22:50579778-50579778 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.927+10C>G SNV Uncertain significance 342170 rs549171476 22:51018393-51018393 22:50579964-50579964 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NC_000022.11:g.(?_50579171)_(50580670_?)dup duplication Uncertain significance 831266 22:51017600-51019099 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.5(CHKB):c.1160A>C (p.Gln387Pro) SNV Uncertain significance 844040 22:51017638-51017638 22:50579209-50579209 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.5(CHKB):c.1121C>T (p.Ala374Val) SNV Uncertain significance 844986 22:51017677-51017677 22:50579248-50579248 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.5(CHKB):c.1052T>C (p.Phe351Ser) SNV Uncertain significance 837239 22:51017916-51017916 22:50579487-50579487 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.5(CHKB):c.991C>G (p.Gln331Glu) SNV Uncertain significance 850471 22:51018196-51018196 22:50579767-50579767 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.5(CHKB):c.961A>G (p.Lys321Glu) SNV Uncertain significance 850226 22:51018226-51018226 22:50579797-50579797 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.5(CHKB):c.870C>A (p.His290Gln) SNV Uncertain significance 849885 22:51018460-51018460 22:50580031-50580031 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.5(CHKB):c.468A>G (p.Gln156=) SNV Uncertain significance 862445 22:51019962-51019962 22:50581533-50581533 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.5(CHKB):c.428G>C (p.Arg143Pro) SNV Uncertain significance 857855 22:51020197-51020197 22:50581768-50581768 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.5(CHKB):c.155G>T (p.Trp52Leu) SNV Uncertain significance 843680 22:51021056-51021056 22:50582627-50582627 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.5(CHKB):c.447+5G>C SNV Uncertain significance 851517 22:51020173-51020173 22:50581744-50581744 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.5(CHKB):c.1037C>T (p.Ala346Val) SNV Uncertain significance 899479 22:51017931-51017931 22:50579502-50579502 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.5(CHKB):c.512T>C (p.Met171Thr) SNV Uncertain significance 900617 22:51019918-51019918 22:50581489-50581489 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.5(CHKB):c.234C>G (p.Leu78=) SNV Uncertain significance 902298 22:51020777-51020777 22:50582348-50582348 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.5(CHKB):c.-13T>C SNV Uncertain significance 903168 22:51021223-51021223 22:50582794-50582794 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.5(CHKB):c.1031+12G>A SNV Uncertain significance 899480 22:51018144-51018144 22:50579715-50579715 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.5(CHKB):c.819-15A>T SNV Uncertain significance 900615 22:51018526-51018526 22:50580097-50580097 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.5(CHKB):c.678-12A>G SNV Uncertain significance 900616 22:51018857-51018857 22:50580428-50580428 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.5(CHKB):c.447+12G>A SNV Uncertain significance 902297 22:51020166-51020166 22:50581737-50581737 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.1111T>A (p.Leu371Met) SNV Uncertain significance 642440 22:51017857-51017857 22:50579428-50579428 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.1085C>T (p.Ser362Phe) SNV Uncertain significance 645296 22:51017883-51017883 22:50579454-50579454 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.1082C>T (p.Ala361Val) SNV Uncertain significance 651236 22:51017886-51017886 22:50579457-50579457 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.941G>A (p.Arg314His) SNV Uncertain significance 658459 22:51018246-51018246 22:50579817-50579817 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.439T>G (p.Tyr147Asp) SNV Uncertain significance 659567 22:51020186-51020186 22:50581757-50581757 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.214T>C (p.Tyr72His) SNV Uncertain significance 646146 22:51020997-51020997 22:50582568-50582568 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.183G>T (p.Trp61Cys) SNV Uncertain significance 650064 22:51021028-51021028 22:50582599-50582599 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NR_027928.2(CHKB-CPT1B):n.772_780del deletion Uncertain significance 638384 22:51019868-51019876 22:50581439-50581447 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.17C>T (p.Thr6Ile) SNV Uncertain significance 536362 rs1555894924 22:51021194-51021194 22:50582765-50582765 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.119C>T (p.Ser40Leu) SNV Uncertain significance 582032 rs1011397890 22:51021092-51021092 22:50582663-50582663 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.565_568del (p.Phe189fs) deletion Uncertain significance 632393 rs752436924 22:51019862-51019865 22:50581433-50581436 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.860A>C (p.Asp287Ala) SNV Uncertain significance 634596 rs1569052732 22:51018470-51018470 22:50580041-50580041 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.856T>C (p.Tyr286His) SNV Uncertain significance 420285 rs764474062 22:51018474-51018474 22:50580045-50580045 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.577G>A (p.Glu193Lys) SNV Uncertain significance 468475 rs1555894697 22:51019853-51019853 22:50581424-50581424 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.902C>T (p.Thr301Ile) SNV Uncertain significance 468477 rs147485527 22:51018428-51018428 22:50579999-50579999 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.466C>G (p.Gln156Glu) SNV Uncertain significance 468474 rs764016359 22:51019964-51019964 22:50581535-50581535 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.642G>T (p.Glu214Asp) SNV Uncertain significance 547961 rs761029141 22:51019029-51019029 22:50580600-50580600 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.1031+3G>C SNV Uncertain significance 560978 rs751176079 22:51018153-51018153 22:50579724-50579724 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.1006G>A (p.Glu336Lys) SNV Uncertain significance 577497 rs374337406 22:51018181-51018181 22:50579752-50579752 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.704C>T (p.Pro235Leu) SNV Uncertain significance 570028 rs199847760 22:51018819-51018819 22:50580390-50580390 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.140G>A (p.Arg47His) SNV Uncertain significance 568442 rs893001695 22:51021071-51021071 22:50582642-50582642 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.55G>C (p.Ala19Pro) SNV Uncertain significance 571658 rs1317692402 22:51021156-51021156 22:50582727-50582727 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.937A>G (p.Ile313Val) SNV Uncertain significance 576607 rs757983603 22:51018250-51018250 22:50579821-50579821 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.581G>A (p.Arg194Gln) SNV Uncertain significance 573092 rs139818555 22:51019849-51019849 22:50581420-50581420 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.970G>C (p.Glu324Gln) SNV Uncertain significance 575646 rs771047317 22:51018217-51018217 22:50579788-50579788 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.315G>A (p.Leu105=) SNV Likely benign 468472 rs369633837 22:51020696-51020696 22:50582267-50582267 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.594G>A (p.Gln198=) SNV Likely benign 468476 rs1555894626 22:51019077-51019077 22:50580648-50580648 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.5(CHKB):c.621C>T (p.Leu207=) SNV Likely benign 704626 22:51019050-51019050 22:50580621-50580621 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.5(CHKB):c.1031+9G>A SNV Likely benign 707811 22:51018147-51018147 22:50579718-50579718 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.5(CHKB):c.687A>G (p.Leu229=) SNV Likely benign 774032 22:51018836-51018836 22:50580407-50580407 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.5(CHKB):c.516G>T (p.Ala172=) SNV Likely benign 761208 22:51019914-51019914 22:50581485-50581485 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.5(CHKB):c.246C>T (p.Leu82=) SNV Likely benign 755894 22:51020765-51020765 22:50582336-50582336 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.597C>T (p.Ile199=) SNV Likely benign 388216 rs146409721 22:51019074-51019074 22:50580645-50580645 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.38C>T (p.Ala13Val) SNV Likely benign 388744 rs779585255 22:51021173-51021173 22:50582744-50582744 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.14C>T (p.Ala5Val) SNV Likely benign 383214 rs199703765 22:51021197-51021197 22:50582768-50582768 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.737-7C>T SNV Benign/Likely benign 384487 rs192728067 22:51018707-51018707 22:50580278-50580278 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.149A>G (p.Tyr50Cys) SNV Benign/Likely benign 342177 rs138205828 22:51021062-51021062 22:50582633-50582633 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.249C>T (p.Phe83=) SNV Benign/Likely benign 342176 rs180979987 22:51020762-51020762 22:50582333-50582333 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.-19G>T SNV Benign 342178 rs373596637 22:51021229-51021229 22:50582800-50582800 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.-27G>A SNV Benign 342179 rs367729011 22:51021237-51021237 22:50582808-50582808 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.*134T>C SNV Benign 342162 rs1056964 22:51017476-51017476 22:50579047-50579047 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.*96G>C SNV Benign 342164 rs17001634 22:51017514-51017514 22:50579085-50579085 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.216C>T (p.Tyr72=) SNV Benign 128728 rs80067609 22:51020995-51020995 22:50582566-50582566 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.333+10G>T SNV Benign 128729 rs86337 22:51020668-51020668 22:50582239-50582239 MSC028 Muscular Dystrophy, Congenital, Megaconial Type CHKB NM_005198.4(CHKB):c.*216C>G SNV Benign 342160 rs3180872 22:51017394-51017394 22:50578965-50578965 MSC028 Muscular Dystrophy, Congenital, Megaconial Type DOK7 NM_173660.5(DOK7):c.1021_1039dup (p.Ser347fs) duplication Pathogenic 434960 rs1553850100 4:3494733-3494734 4:3493006-3493007 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.331+1G>T SNV Pathogenic 449547 rs1349476281 4:3475364-3475364 4:3473637-3473637 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NC_000004.12:g.(?_3485519)_(3493521_?)del deletion Pathogenic 465669 4:3487246-3495248 4:3485519-3493521 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NC_000004.12:g.(?_3473386)_(3489816_?)del deletion Pathogenic 465668 4:3475113-3491543 4:3473386-3489816 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.199C>T (p.Pro67Ser) SNV Pathogenic 544694 rs1553846331 4:3475231-3475231 4:3473504-3473504 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1061C>T (p.Ser354Phe) SNV Pathogenic 544830 rs756015202 4:3494774-3494774 4:3493047-3493047 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.743_744TC[4] (p.His250fs) short repeat Pathogenic 583395 rs1560224831 4:3491492-3491493 4:3489765-3489766 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.28del (p.Gln10fs) deletion Pathogenic 654355 4:3465129-3465129 4:3463402-3463402 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NC_000004.12:g.(?_3485529)_(3493511_?)del deletion Pathogenic 644832 4:3487256-3495238 4:3485529-3493511 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.483_484dup (p.Ala162fs) duplication Pathogenic 812703 4:3478217-3478218 4:3476490-3476491 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1296_1311del (p.Asp433fs) deletion Pathogenic 813360 4:3495001-3495016 4:3493274-3493289 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NC_000004.12:g.(?_3463366)_(3493511_?)del deletion Pathogenic 831089 4:3465093-3495238 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NC_000004.12:g.(?_3485529)_(3485668_?)del deletion Pathogenic 832528 4:3487256-3487395 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.457A>T (p.Lys153Ter) SNV Pathogenic 853396 4:3478194-3478194 4:3476467-3476467 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.810_811del (p.His272fs) deletion Pathogenic 841000 4:3494523-3494524 4:3492796-3492797 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.54+25_55-38del deletion Pathogenic 835508 4:3465170-3465184 4:3463443-3463457 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) duplication Pathogenic 1273 rs606231128 4:3494833-3494834 4:3493106-3493107 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1263dup (p.Ser422fs) duplication Pathogenic 1274 rs606231129 4:3494969-3494970 4:3493242-3493243 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.548_551del (p.Phe183fs) deletion Pathogenic 1275 rs606231130 4:3487279-3487282 4:3485552-3485555 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1331_1334CTGG[4] (p.Gly448fs) short repeat Pathogenic 1276 rs606231131 4:3495043-3495044 4:3493316-3493317 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1143dup (p.Glu382fs) duplication Pathogenic 1277 rs606231132 4:3494851-3494852 4:3493124-3493125 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.539G>C (p.Gly180Ala) SNV Pathogenic 1278 rs118203994 4:3487272-3487272 4:3485545-3485545 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.601C>T (p.Arg201Ter) SNV Pathogenic 1279 rs118203995 4:3487334-3487334 4:3485607-3485607 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.55-1G>T SNV Pathogenic 1280 rs863223277 4:3465232-3465232 4:3463505-3463505 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1408_1412dup (p.Gly472fs) duplication Pathogenic 854520 4:3495120-3495121 4:3493393-3493394 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1138dup (p.Ala380fs) duplication Pathogenic 209149 rs761899995 4:3494846-3494847 4:3493119-3493120 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1476_1485dup (p.Gly496fs) duplication Pathogenic 209148 rs797045040 4:3495188-3495189 4:3493461-3493462 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.596del (p.Ile199fs) deletion Pathogenic 210856 rs797045528 4:3487329-3487329 4:3485602-3485602 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.513C>T (p.Gly171=) SNV Pathogenic/Likely pathogenic 429791 rs775583136 4:3478250-3478250 4:3476523-3476523 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.612_625delinsGGACGGTTCTA (p.Pro205_Pro209delinsAspGlySerThr) indel Likely pathogenic 434961 rs1553847993 4:3487345-3487358 4:3485618-3485631 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.957dup (p.Lys320fs) duplication Likely pathogenic 465693 rs794727884 4:3494664-3494665 4:3492937-3492938 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.439del (p.Ala147fs) deletion Likely pathogenic 804439 4:3478175-3478175 4:3476448-3476448 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.773-2_773-1del deletion Likely pathogenic 804440 4:3494484-3494485 4:3492757-3492758 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1215T>G (p.Tyr405Ter) SNV Likely pathogenic 647698 4:3494928-3494928 4:3493201-3493201 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1264del (p.Ser422fs) deletion Likely pathogenic 645324 4:3494977-3494977 4:3493250-3493250 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1378dup (p.Gln460fs) duplication Likely pathogenic 1282 rs606231133 4:3495085-3495086 4:3493358-3493359 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1313C>G (p.Thr438Arg) SNV Conflicting interpretations of pathogenicity 198625 rs376805794 4:3495026-3495026 4:3493299-3493299 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.918C>T (p.Ala306=) SNV Conflicting interpretations of pathogenicity 198627 rs141947707 4:3494631-3494631 4:3492904-3492904 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1305C>A (p.Gly435=) SNV Conflicting interpretations of pathogenicity 198628 rs201894731 4:3495018-3495018 4:3493291-3493291 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.481G>A (p.Gly161Arg) SNV Conflicting interpretations of pathogenicity 560991 rs758131044 4:3478218-3478218 4:3476491-3476491 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.331+9C>T SNV Conflicting interpretations of pathogenicity 196595 rs370879328 4:3475372-3475372 4:3473645-3473645 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.134C>T (p.Ser45Leu) SNV Conflicting interpretations of pathogenicity 196597 rs62272670 4:3475166-3475166 4:3473439-3473439 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.296C>T (p.Ala99Val) SNV Conflicting interpretations of pathogenicity 262871 rs138010842 4:3475328-3475328 4:3473601-3473601 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1278C>T (p.Pro426=) SNV Conflicting interpretations of pathogenicity 281424 rs139468087 4:3494991-3494991 4:3493264-3493264 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.161G>A (p.Arg54His) SNV Conflicting interpretations of pathogenicity 285098 rs201818140 4:3475193-3475193 4:3473466-3473466 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1171G>A (p.Gly391Arg) SNV Conflicting interpretations of pathogenicity 465670 rs144158112 4:3494884-3494884 4:3493157-3493157 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.781C>T (p.Arg261Cys) SNV Conflicting interpretations of pathogenicity 423589 rs142821143 4:3494494-3494494 4:3492767-3492767 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.971C>T (p.Pro324Leu) SNV Uncertain significance 423389 rs546889092 4:3494684-3494684 4:3492957-3492957 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1258C>T (p.Pro420Ser) SNV Uncertain significance 451362 rs150497723 4:3494971-3494971 4:3493244-3493244 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1425G>T (p.Trp475Cys) SNV Uncertain significance 452145 rs777626370 4:3495138-3495138 4:3493411-3493411 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.202G>A (p.Gly68Ser) SNV Uncertain significance 465684 rs376509451 4:3475234-3475234 4:3473507-3473507 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.653-3C>T SNV Uncertain significance 465686 rs767745850 4:3491401-3491401 4:3489674-3489674 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.886_887inv (p.Gln296Trp) inversion Uncertain significance 465691 4:3494599-3494600 4:3492872-3492873 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.974G>A (p.Arg325Gln) SNV Uncertain significance 465694 rs750929473 4:3494687-3494687 4:3492960-3492960 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1262C>A (p.Pro421His) SNV Uncertain significance 465671 rs373261147 4:3494975-3494975 4:3493248-3493248 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1279G>A (p.Gly427Ser) SNV Uncertain significance 465672 rs377555406 4:3494992-3494992 4:3493265-3493265 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1289C>T (p.Ala430Val) SNV Uncertain significance 465673 rs745414274 4:3495002-3495002 4:3493275-3493275 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.661C>A (p.Pro221Thr) SNV Uncertain significance 465687 rs377167511 4:3491412-3491412 4:3489685-3489685 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1340_1354del (p.Leu447_Arg451del) deletion Uncertain significance 465675 rs779508279 4:3495050-3495064 4:3493323-3493337 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1346C>T (p.Thr449Met) SNV Uncertain significance 465676 rs373864257 4:3495059-3495059 4:3493332-3493332 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.626C>T (p.Pro209Leu) SNV Uncertain significance 522745 rs902286336 4:3487359-3487359 4:3485632-3485632 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.668G>A (p.Gly223Glu) SNV Uncertain significance 534117 rs146895834 4:3491419-3491419 4:3489692-3489692 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.914A>G (p.Gln305Arg) SNV Uncertain significance 534125 rs747816956 4:3494627-3494627 4:3492900-3492900 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.577A>G (p.Ser193Gly) SNV Uncertain significance 418166 rs139133047 4:3487310-3487310 4:3485583-3485583 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1515A>G (p.Ter505Trp) SNV Uncertain significance 465681 rs1553850437 4:3495228-3495228 4:3493501-3493501 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1487G>C (p.Gly496Ala) SNV Uncertain significance 465679 rs373205256 4:3495200-3495200 4:3493473-3493473 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.327C>T (p.Gly109=) SNV Uncertain significance 465685 rs377367035 4:3475359-3475359 4:3473632-3473632 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.893G>A (p.Gly298Glu) SNV Uncertain significance 465692 rs1553850025 4:3494606-3494606 4:3492879-3492879 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1403G>A (p.Gly468Asp) SNV Uncertain significance 465677 rs767909551 4:3495116-3495116 4:3493389-3493389 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1084G>A (p.Val362Met) SNV Uncertain significance 568767 rs760157322 4:3494797-3494797 4:3493070-3493070 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1228A>C (p.Ser410Arg) SNV Uncertain significance 581162 rs547633164 4:3494941-3494941 4:3493214-3493214 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1306G>C (p.Gly436Arg) SNV Uncertain significance 568825 rs201392182 4:3495019-3495019 4:3493292-3493292 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1478C>T (p.Pro493Leu) SNV Uncertain significance 580182 rs773679215 4:3495191-3495191 4:3493464-3493464 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1487G>T (p.Gly496Val) SNV Uncertain significance 571348 rs373205256 4:3495200-3495200 4:3493473-3493473 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1497G>T (p.Lys499Asn) SNV Uncertain significance 572238 rs1560234858 4:3495210-3495210 4:3493483-3493483 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.638G>A (p.Arg213Gln) SNV Uncertain significance 566270 rs371408752 4:3487371-3487371 4:3485644-3485644 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.983A>G (p.Gln328Arg) SNV Uncertain significance 571993 rs752168445 4:3494696-3494696 4:3492969-3492969 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1074_1306dup (p.Gly436fs) duplication Uncertain significance 567882 rs1560232833 4:3494785-3494786 4:3493058-3493059 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1205G>A (p.Arg402Gln) SNV Uncertain significance 575016 rs370039804 4:3494918-3494918 4:3493191-3493191 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1373C>A (p.Ala458Asp) SNV Uncertain significance 565957 rs778440478 4:3495086-3495086 4:3493359-3493359 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.394C>A (p.His132Asn) SNV Uncertain significance 566353 rs755692930 4:3478131-3478131 4:3476404-3476404 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.962C>T (p.Pro321Leu) SNV Uncertain significance 568136 rs560882592 4:3494675-3494675 4:3492948-3492948 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1090C>T (p.Arg364Trp) SNV Uncertain significance 571203 rs577156980 4:3494803-3494803 4:3493076-3493076 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.257C>T (p.Ala86Val) SNV Uncertain significance 577134 rs575986565 4:3475289-3475289 4:3473562-3473562 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.638G>T (p.Arg213Leu) SNV Uncertain significance 582791 rs371408752 4:3487371-3487371 4:3485644-3485644 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.674C>T (p.Ser225Leu) SNV Uncertain significance 573469 rs769699131 4:3491425-3491425 4:3489698-3489698 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.752C>T (p.Ala251Val) SNV Uncertain significance 575311 rs376251309 4:3491503-3491503 4:3489776-3489776 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1393A>G (p.Thr465Ala) SNV Uncertain significance 571711 rs765625554 4:3495106-3495106 4:3493379-3493379 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.308G>A (p.Arg103Gln) SNV Uncertain significance 548006 rs377554325 4:3475340-3475340 4:3473613-3473613 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.973C>T (p.Arg325Trp) SNV Uncertain significance 534119 rs376280466 4:3494686-3494686 4:3492959-3492959 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1180G>A (p.Glu394Lys) SNV Uncertain significance 534115 rs751691265 4:3494893-3494893 4:3493166-3493166 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1417G>A (p.Glu473Lys) SNV Uncertain significance 534121 rs1359635065 4:3495130-3495130 4:3493403-3493403 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.829G>A (p.Ala277Thr) SNV Uncertain significance 534116 rs759117081 4:3494542-3494542 4:3492815-3492815 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.881C>A (p.Thr294Lys) SNV Uncertain significance 534120 rs151079259 4:3494594-3494594 4:3492867-3492867 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1225C>T (p.Arg409Cys) SNV Uncertain significance 534126 rs199606134 4:3494938-3494938 4:3493211-3493211 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1258C>G (p.Pro420Ala) SNV Uncertain significance 534124 rs150497723 4:3494971-3494971 4:3493244-3493244 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1007C>T (p.Ser336Leu) SNV Uncertain significance 534122 rs377757018 4:3494720-3494720 4:3492993-3492993 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.155G>A (p.Arg52Gln) SNV Uncertain significance 534118 rs201953114 4:3475187-3475187 4:3473460-3473460 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1054C>G (p.Leu352Val) SNV Uncertain significance 534114 rs1037224921 4:3494767-3494767 4:3493040-3493040 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.781C>G (p.Arg261Gly) SNV Uncertain significance 465688 rs142821143 4:3494494-3494494 4:3492767-3492767 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.857A>G (p.Glu286Gly) SNV Uncertain significance 465690 rs754105518 4:3494570-3494570 4:3492843-3492843 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.619A>C (p.Lys207Gln) SNV Uncertain significance 534123 rs1240579533 4:3487352-3487352 4:3485625-3485625 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1307G>A (p.Gly436Asp) SNV Uncertain significance 660710 4:3495020-3495020 4:3493293-3493293 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1352G>A (p.Arg451Gln) SNV Uncertain significance 661237 4:3495065-3495065 4:3493338-3493338 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1354C>T (p.Arg452Trp) SNV Uncertain significance 642016 4:3495067-3495067 4:3493340-3493340 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1388A>G (p.Glu463Gly) SNV Uncertain significance 666132 4:3495101-3495101 4:3493374-3493374 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1403_1408dup (p.Gly468_Pro469dup) duplication Uncertain significance 639843 4:3495111-3495112 4:3493384-3493385 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1411C>T (p.Pro471Ser) SNV Uncertain significance 643976 4:3495124-3495124 4:3493397-3493397 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1445C>A (p.Ala482Glu) SNV Uncertain significance 665659 4:3495158-3495158 4:3493431-3493431 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1477C>G (p.Pro493Ala) SNV Uncertain significance 655522 4:3495190-3495190 4:3493463-3493463 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.821A>C (p.Asp274Ala) SNV Uncertain significance 839417 4:3494534-3494534 4:3492807-3492807 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.838C>T (p.Arg280Trp) SNV Uncertain significance 863963 4:3494551-3494551 4:3492824-3492824 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.932T>C (p.Met311Thr) SNV Uncertain significance 858676 4:3494645-3494645 4:3492918-3492918 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.946A>G (p.Arg316Gly) SNV Uncertain significance 855951 4:3494659-3494659 4:3492932-3492932 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.956C>A (p.Pro319His) SNV Uncertain significance 841965 4:3494669-3494669 4:3492942-3492942 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.956C>G (p.Pro319Arg) SNV Uncertain significance 864356 4:3494669-3494669 4:3492942-3492942 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1049G>A (p.Ser350Asn) SNV Uncertain significance 840860 4:3494762-3494762 4:3493035-3493035 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1067C>A (p.Ala356Glu) SNV Uncertain significance 843957 4:3494780-3494780 4:3493053-3493053 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1067C>T (p.Ala356Val) SNV Uncertain significance 836183 4:3494780-3494780 4:3493053-3493053 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1169C>T (p.Pro390Leu) SNV Uncertain significance 864355 4:3494882-3494882 4:3493155-3493155 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1226G>A (p.Arg409His) SNV Uncertain significance 862258 4:3494939-3494939 4:3493212-3493212 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1272C>T (p.Gly424=) SNV Uncertain significance 841123 4:3494985-3494985 4:3493258-3493258 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.469C>G (p.Leu157Val) SNV Uncertain significance 850158 4:3478206-3478206 4:3476479-3476479 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.534G>T (p.Trp178Cys) SNV Uncertain significance 842088 4:3487267-3487267 4:3485540-3485540 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.596T>G (p.Ile199Ser) SNV Uncertain significance 837930 4:3487329-3487329 4:3485602-3485602 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.730C>T (p.Arg244Trp) SNV Uncertain significance 836044 4:3491481-3491481 4:3489754-3489754 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.139C>T (p.Arg47Cys) SNV Uncertain significance 857693 4:3475171-3475171 4:3473444-3473444 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.193C>T (p.Leu65=) SNV Uncertain significance 864125 4:3475225-3475225 4:3473498-3473498 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.230C>A (p.Thr77Lys) SNV Uncertain significance 852314 4:3475262-3475262 4:3473535-3473535 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.97G>A (p.Ala33Thr) SNV Uncertain significance 653280 4:3465275-3465275 4:3463548-3463548 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.97G>T (p.Ala33Ser) SNV Uncertain significance 661865 4:3465275-3465275 4:3463548-3463548 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.138_149del (p.Glu46_Gly50delinsAsp) deletion Uncertain significance 665801 4:3475170-3475181 4:3473443-3473454 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.214G>A (p.Glu72Lys) SNV Uncertain significance 641993 4:3475246-3475246 4:3473519-3473519 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.229A>G (p.Thr77Ala) SNV Uncertain significance 658154 4:3475261-3475261 4:3473534-3473534 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.445A>G (p.Thr149Ala) SNV Uncertain significance 663291 4:3478182-3478182 4:3476455-3476455 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.472C>T (p.Arg158Trp) SNV Uncertain significance 643080 4:3478209-3478209 4:3476482-3476482 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.522G>C (p.Arg174Ser) SNV Uncertain significance 641729 4:3478259-3478259 4:3476532-3476532 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.564G>A (p.Glu188=) SNV Uncertain significance 654385 4:3487297-3487297 4:3485570-3485570 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.588C>G (p.Phe196Leu) SNV Uncertain significance 641690 4:3487321-3487321 4:3485594-3485594 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.602G>A (p.Arg201Gln) SNV Uncertain significance 645670 4:3487335-3487335 4:3485608-3485608 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.623G>T (p.Gly208Val) SNV Uncertain significance 658320 4:3487356-3487356 4:3485629-3485629 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.649C>T (p.Pro217Ser) SNV Uncertain significance 650871 4:3487382-3487382 4:3485655-3485655 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.691G>A (p.Val231Met) SNV Uncertain significance 651029 4:3491442-3491442 4:3489715-3489715 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.752_753delinsTA (p.Ala251Val) indel Uncertain significance 665451 4:3491503-3491504 4:3489776-3489777 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.856G>A (p.Glu286Lys) SNV Uncertain significance 639808 4:3494569-3494569 4:3492842-3492842 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.922G>A (p.Gly308Arg) SNV Uncertain significance 645987 4:3494635-3494635 4:3492908-3492908 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.952C>A (p.Pro318Thr) SNV Uncertain significance 666026 4:3494665-3494665 4:3492938-3492938 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1000A>G (p.Ser334Gly) SNV Uncertain significance 651680 4:3494713-3494713 4:3492986-3492986 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1001G>A (p.Ser334Asn) SNV Uncertain significance 659048 4:3494714-3494714 4:3492987-3492987 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1133C>T (p.Ala378Val) SNV Uncertain significance 664626 4:3494846-3494846 4:3493119-3493119 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1168C>A (p.Pro390Thr) SNV Uncertain significance 640966 4:3494881-3494881 4:3493154-3493154 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1168C>T (p.Pro390Ser) SNV Uncertain significance 651609 4:3494881-3494881 4:3493154-3493154 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1214A>G (p.Tyr405Cys) SNV Uncertain significance 665723 4:3494927-3494927 4:3493200-3493200 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1321G>A (p.Gly441Arg) SNV Uncertain significance 286319 rs778266118 4:3495034-3495034 4:3493307-3493307 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1451C>T (p.Pro484Leu) SNV Uncertain significance 373639 rs1057518522 4:3495164-3495164 4:3493437-3493437 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1445C>T (p.Ala482Val) SNV Uncertain significance 281617 rs767980190 4:3495158-3495158 4:3493431-3493431 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1403_1408del (p.Gly468_Pro469del) deletion Uncertain significance 198623 rs762148551 4:3495112-3495117 4:3493385-3493390 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.994C>T (p.Arg332Cys) SNV Uncertain significance 198624 rs200394790 4:3494707-3494707 4:3492980-3492980 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1416C>T (p.Gly472=) SNV Uncertain significance 854235 4:3495129-3495129 4:3493402-3493402 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1434C>T (p.Gly478=) SNV Uncertain significance 848337 4:3495147-3495147 4:3493420-3493420 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1457C>T (p.Pro486Leu) SNV Uncertain significance 851488 4:3495170-3495170 4:3493443-3493443 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1469C>G (p.Ser490Trp) SNV Uncertain significance 853505 4:3495182-3495182 4:3493455-3493455 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.773-2A>C SNV Uncertain significance 853716 4:3494484-3494484 4:3492757-3492757 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.773-1G>A SNV Uncertain significance 839723 4:3494485-3494485 4:3492758-3492758 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.761C>T (p.Pro254Leu) SNV Uncertain significance 252795 rs200407250 4:3491512-3491512 4:3489785-3489785 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.54+26G>T SNV Likely benign 262880 rs543525751 4:3465182-3465182 4:3463455-3463455 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.282C>T (p.His94=) SNV Likely benign 262870 rs377025553 4:3475314-3475314 4:3473587-3473587 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1320C>T (p.Ala440=) SNV Likely benign 704033 4:3495033-3495033 4:3493306-3493306 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1480G>A (p.Val494Ile) SNV Likely benign 704035 4:3495193-3495193 4:3493466-3493466 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.54+26G>C SNV Likely benign 704455 4:3465182-3465182 4:3463455-3463455 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.54+27G>A SNV Likely benign 703899 4:3465183-3465183 4:3463456-3463456 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.54+27G>T SNV Likely benign 704750 4:3465183-3465183 4:3463456-3463456 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.772+8C>T SNV Likely benign 704850 4:3491531-3491531 4:3489804-3489804 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1068G>T (p.Ala356=) SNV Likely benign 775473 4:3494781-3494781 4:3493054-3493054 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1263C>A (p.Pro421=) SNV Likely benign 772931 4:3494976-3494976 4:3493249-3493249 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1323G>A (p.Gly441=) SNV Likely benign 772011 4:3495036-3495036 4:3493309-3493309 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.561C>T (p.Ala187=) SNV Likely benign 711906 4:3487294-3487294 4:3485567-3485567 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.903A>C (p.Pro301=) SNV Likely benign 711225 4:3494616-3494616 4:3492889-3492889 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.772+9G>A SNV Likely benign 718230 4:3491532-3491532 4:3489805-3489805 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.639G>A (p.Arg213=) SNV Likely benign 747004 4:3487372-3487372 4:3485645-3485645 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1482C>T (p.Val494=) SNV Likely benign 743881 4:3495195-3495195 4:3493468-3493468 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.690T>G (p.Arg230=) SNV Likely benign 755460 4:3491441-3491441 4:3489714-3489714 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.996C>T (p.Arg332=) SNV Likely benign 759734 4:3494709-3494709 4:3492982-3492982 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.773-9C>T SNV Likely benign 772005 4:3494477-3494477 4:3492750-3492750 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.567G>A (p.Gly189=) SNV Likely benign 704024 4:3487300-3487300 4:3485573-3485573 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.641C>T (p.Pro214Leu) SNV Likely benign 706049 4:3487374-3487374 4:3485647-3485647 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.828C>T (p.Ser276=) SNV Likely benign 707519 4:3494541-3494541 4:3492814-3492814 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.846C>T (p.Thr282=) SNV Likely benign 705870 4:3494559-3494559 4:3492832-3492832 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.882G>A (p.Thr294=) SNV Likely benign 703516 4:3494595-3494595 4:3492868-3492868 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.975G>A (p.Arg325=) SNV Likely benign 704751 4:3494688-3494688 4:3492961-3492961 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.812G>C (p.Ser271Thr) SNV Likely benign 534129 rs144592743 4:3494525-3494525 4:3492798-3492798 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1144G>A (p.Glu382Lys) SNV Likely benign 534130 rs560463670 4:3494857-3494857 4:3493130-3493130 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1170C>T (p.Pro390=) SNV Likely benign 534134 rs199525739 4:3494883-3494883 4:3493156-3493156 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1401T>C (p.Pro467=) SNV Likely benign 534132 rs764419050 4:3495114-3495114 4:3493387-3493387 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1406C>A (p.Pro469His) SNV Likely benign 534127 rs147185207 4:3495119-3495119 4:3493392-3493392 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1507C>A (p.Pro503Thr) SNV Likely benign 465680 rs184556570 4:3495220-3495220 4:3493493-3493493 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.163A>G (p.Ser55Gly) SNV Likely benign 465682 rs550137245 4:3475195-3475195 4:3473468-3473468 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.54+26_54+27insAGGGG insertion Likely benign 534135 rs1553844254 4:3465178-3465179 4:3463451-3463452 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.972G>A (p.Pro324=) SNV Likely benign 511325 rs373041663 4:3494685-3494685 4:3492958-3492958 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1329C>G (p.Pro443=) SNV Likely benign 465674 rs768213796 4:3495042-3495042 4:3493315-3493315 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.178G>A (p.Glu60Lys) SNV Likely benign 465683 rs199980106 4:3475210-3475210 4:3473483-3473483 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1008G>A (p.Ser336=) SNV Likely benign 447278 rs185050737 4:3494721-3494721 4:3492994-3492994 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.189C>T (p.Cys63=) SNV Benign/Likely benign 262869 rs372989037 4:3475221-3475221 4:3473494-3473494 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.921C>T (p.Ala307=) SNV Benign/Likely benign 262891 rs138148221 4:3494634-3494634 4:3492907-3492907 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1091G>A (p.Arg364Gln) SNV Benign/Likely benign 262866 rs201304841 4:3494804-3494804 4:3493077-3493077 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1204C>T (p.Arg402Trp) SNV Benign 262867 rs149905649 4:3494917-3494917 4:3493190-3493190 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1469C>T (p.Ser490Leu) SNV Benign 262868 rs77513082 4:3495182-3495182 4:3493455-3493455 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1295G>A (p.Arg432Lys) SNV Benign 285096 rs145419117 4:3495008-3495008 4:3493281-3493281 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1143C>T (p.Pro381=) SNV Benign 128906 rs56769879 4:3494856-3494856 4:3493129-3493129 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1317C>T (p.Ser439=) SNV Benign 128909 rs16844467 4:3495030-3495030 4:3493303-3493303 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1351C>T (p.Arg451Trp) SNV Benign 128910 rs16844470 4:3495064-3495064 4:3493337-3493337 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.332-4G>A SNV Benign 128912 rs199578351 4:3478065-3478065 4:3476338-3476338 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.589G>A (p.Asp197Asn) SNV Benign 128913 rs16844422 4:3487322-3487322 4:3485595-3485595 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.782G>A (p.Arg261His) SNV Benign 128915 rs16844460 4:3494495-3494495 4:3492768-3492768 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.967C>T (p.Arg323Cys) SNV Benign 128917 rs150728781 4:3494680-3494680 4:3492953-3492953 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.831C>T (p.Ala277=) SNV Benign 465689 rs150549589 4:3494544-3494544 4:3492817-3492817 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.904G>C (p.Ala302Pro) SNV Benign 534133 rs79063654 4:3494617-3494617 4:3492890-3492890 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.919G>A (p.Ala307Thr) SNV Benign 534131 rs150415034 4:3494632-3494632 4:3492905-3492905 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.1290G>A (p.Ala430=) SNV Benign 702590 4:3495003-3495003 4:3493276-3493276 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.54+31_54+33del deletion Benign 702078 4:3465178-3465180 4:3463451-3463453 MYS052 Myasthenic Syndrome, Congenital, 10 DOK7 NM_173660.5(DOK7):c.54+32_54+33del deletion Benign 701812 4:3465178-3465179 4:3463451-3463452 MYS052 Myasthenic Syndrome, Congenital, 10 GFPT1 NM_001244710.1(GFPT1):c.686-2A>G SNV Pathogenic 540353 rs1011196447 2:69581446-69581446 2:69354314-69354314 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.928C>T (p.Gln310Ter) SNV Pathogenic 570975 rs1558749457 2:69575330-69575330 2:69348198-69348198 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.197_201del (p.Val66fs) deletion Pathogenic 583230 rs1558773839 2:69597155-69597159 2:69370023-69370027 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.41G>T (p.Arg14Leu) SNV Pathogenic 631477 rs922548333 2:69601212-69601212 2:69374080-69374080 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.452C>A (p.Thr151Lys) SNV Pathogenic 631478 rs1558761046 2:69585552-69585552 2:69358420-69358420 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.964C>T (p.Arg322Ter) SNV Pathogenic 859066 2:69575348-69575348 2:69348216-69348216 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.89_90del (p.Leu30fs) deletion Pathogenic 836225 2:69601163-69601164 2:69374031-69374032 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.3:c.223dupA duplication Pathogenic 29736 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.685+210G>A SNV Pathogenic 29737 2:69581411-69581411 2:69354279-69354279 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.1042G>T (p.Asp348Tyr) SNV Pathogenic 29738 2:69573045-69573045 2:69345913-69345913 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.43A>G (p.Thr15Ala) SNV Pathogenic 29739 rs387906638 2:69601210-69601210 2:69374078-69374078 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.621del (p.Leu207_Leu208insTer) deletion Pathogenic 29740 2:69581685-69581685 2:69354553-69354553 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.331C>T (p.Arg111Cys) SNV Pathogenic/Likely pathogenic 29735 rs201322234 2:69590695-69590695 2:69363563-69363563 MYS074 Myasthenic Syndrome, Congenital, 12 FAT1 NM_005245.4(FAT1):c.2598_2599CA[1] (p.Thr867fs) short repeat Likely pathogenic 804450 4:187628381-187628382 4:186707227-186707228 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NC_000002.12:g.(?_69363535)_(69363680_?)del deletion Likely pathogenic 833366 2:69590667-69590812 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.408+5G>A SNV Likely pathogenic 617539 rs1558762013 2:69586395-69586395 2:69359263-69359263 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.50G>A (p.Arg17Gln) SNV Likely pathogenic 617540 rs775399768 2:69601203-69601203 2:69374071-69374071 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.1051+1G>A SNV Likely pathogenic 540351 rs1553389102 2:69573035-69573035 2:69345903-69345903 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.224-10T>C SNV Conflicting interpretations of pathogenicity 473133 rs777508704 2:69590812-69590812 2:69363680-69363680 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.1828G>A (p.Val610Ile) SNV Conflicting interpretations of pathogenicity 435319 rs190072721 2:69555414-69555414 2:69328282-69328282 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.956-10A>G SNV Conflicting interpretations of pathogenicity 473138 rs753072061 2:69573141-69573141 2:69346009-69346009 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*22C>A SNV Conflicting interpretations of pathogenicity 208585 rs199678034 2:69553299-69553299 2:69326167-69326167 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*2508A>T SNV Uncertain significance 897969 2:69550813-69550813 2:69323681-69323681 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*2498A>G SNV Uncertain significance 897970 2:69550823-69550823 2:69323691-69323691 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*2758G>A SNV Uncertain significance 896354 2:69550563-69550563 2:69323431-69323431 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*2722C>T SNV Uncertain significance 896355 2:69550599-69550599 2:69323467-69323467 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*2634C>T SNV Uncertain significance 896356 2:69550687-69550687 2:69323555-69323555 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*2622G>A SNV Uncertain significance 896357 2:69550699-69550699 2:69323567-69323567 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*5325T>G SNV Uncertain significance 336792 rs867127128 2:69547996-69547996 2:69320864-69320864 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*6284G>A SNV Uncertain significance 336781 rs533940046 2:69547037-69547037 2:69319905-69319905 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*5261G>C SNV Uncertain significance 336794 rs780713952 2:69548060-69548060 2:69320928-69320928 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*4650A>G SNV Uncertain significance 336802 rs886056237 2:69548671-69548671 2:69321539-69321539 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*4520G>C SNV Uncertain significance 336803 rs886056238 2:69548801-69548801 2:69321669-69321669 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*3576A>G SNV Uncertain significance 336814 rs150614742 2:69549745-69549745 2:69322613-69322613 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*3385G>A SNV Uncertain significance 336815 rs886056240 2:69549936-69549936 2:69322804-69322804 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*635G>A SNV Uncertain significance 895038 2:69552686-69552686 2:69325554-69325554 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*272T>G SNV Uncertain significance 895039 2:69553049-69553049 2:69325917-69325917 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*176C>T SNV Uncertain significance 896479 2:69553145-69553145 2:69326013-69326013 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*1G>C SNV Uncertain significance 896480 2:69553320-69553320 2:69326188-69326188 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.1687C>G (p.Arg563Gly) SNV Uncertain significance 898105 2:69556467-69556467 2:69329335-69329335 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.1431T>C (p.Asp477=) SNV Uncertain significance 898106 2:69565081-69565081 2:69337949-69337949 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.539A>T (p.Gln180Leu) SNV Uncertain significance 899222 2:69585465-69585465 2:69358333-69358333 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.327C>T (p.Pro109=) SNV Uncertain significance 899223 2:69590699-69590699 2:69363567-69363567 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.-32C>T SNV Uncertain significance 895107 2:69614235-69614235 2:69387103-69387103 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.-80T>C SNV Uncertain significance 895108 2:69614283-69614283 2:69387151-69387151 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*4761G>A SNV Uncertain significance 336800 rs886056236 2:69548560-69548560 2:69321428-69321428 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*3345C>G SNV Uncertain significance 336817 rs73937245 2:69549976-69549976 2:69322844-69322844 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*2510A>T SNV Uncertain significance 336831 rs61159728 2:69550811-69550811 2:69323679-69323679 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*666T>C SNV Uncertain significance 336861 rs543343212 2:69552655-69552655 2:69325523-69325523 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*52C>A SNV Uncertain significance 336871 rs554824301 2:69553269-69553269 2:69326137-69326137 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.1947C>T (p.Ser649=) SNV Uncertain significance 336875 rs765856240 2:69554100-69554100 2:69326968-69326968 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.1543+5A>G SNV Uncertain significance 336876 rs373420002 2:69556811-69556811 2:69329679-69329679 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.1149+12T>A SNV Uncertain significance 336878 rs886056260 2:69569272-69569272 2:69342140-69342140 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.-125C>T SNV Uncertain significance 336883 rs886056263 2:69614328-69614328 2:69387196-69387196 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*3021T>A SNV Uncertain significance 336824 rs549806095 2:69550300-69550300 2:69323168-69323168 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*3019G>T SNV Uncertain significance 336825 rs886056242 2:69550302-69550302 2:69323170-69323170 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*2223C>T SNV Uncertain significance 336841 rs145374217 2:69551098-69551098 2:69323966-69323966 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*1639A>G SNV Uncertain significance 336846 rs886056249 2:69551682-69551682 2:69324550-69324550 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*1540A>T SNV Uncertain significance 336847 rs886056250 2:69551781-69551781 2:69324649-69324649 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*1461T>G SNV Uncertain significance 336848 rs146949335 2:69551860-69551860 2:69324728-69324728 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*1168C>T SNV Uncertain significance 336852 rs886056251 2:69552153-69552153 2:69325021-69325021 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*395C>T SNV Uncertain significance 336864 rs537215984 2:69552926-69552926 2:69325794-69325794 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*383T>G SNV Uncertain significance 336865 rs886056255 2:69552938-69552938 2:69325806-69325806 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*112C>T SNV Uncertain significance 336869 rs886056258 2:69553209-69553209 2:69326077-69326077 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.329A>G (p.Gln110Arg) SNV Uncertain significance 336879 rs886056261 2:69590697-69590697 2:69363565-69363565 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.-34C>T SNV Uncertain significance 336882 rs886056262 2:69614237-69614237 2:69387105-69387105 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.-143G>T SNV Uncertain significance 336884 rs886056264 2:69614346-69614346 2:69387214-69387214 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*6016C>T SNV Uncertain significance 336785 rs886056230 2:69547305-69547305 2:69320173-69320173 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*5673C>T SNV Uncertain significance 336787 rs191479634 2:69547648-69547648 2:69320516-69320516 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*5432G>A SNV Uncertain significance 336789 rs886056233 2:69547889-69547889 2:69320757-69320757 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.606-3C>T SNV Uncertain significance 473135 rs1286081479 2:69581703-69581703 2:69354571-69354571 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.1873A>G (p.Thr625Ala) SNV Uncertain significance 571543 rs772026265 2:69554174-69554174 2:69327042-69327042 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.134_154dup (p.Gly45_Glu51dup) duplication Uncertain significance 571927 rs1558773904 2:69597201-69597202 2:69370069-69370070 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.1865A>G (p.Lys622Arg) SNV Uncertain significance 659009 2:69554182-69554182 2:69327050-69327050 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.848C>T (p.Ala283Val) SNV Uncertain significance 643397 2:69575410-69575410 2:69348278-69348278 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.362T>C (p.Ile121Thr) SNV Uncertain significance 645814 2:69586446-69586446 2:69359314-69359314 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.1(GFPT1):c.305C>A (p.Pro102His) SNV Uncertain significance 645038 2:69590721-69590721 2:69363589-69363589 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.118G>T (p.Val40Leu) SNV Uncertain significance 655867 2:69597238-69597238 2:69370106-69370106 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.1871A>T (p.Asp624Val) SNV Uncertain significance 473130 rs1553385828 2:69554176-69554176 2:69327044-69327044 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.29A>G (p.Tyr10Cys) SNV Uncertain significance 473134 rs1553393940 2:69601224-69601224 2:69374092-69374092 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.1255T>A (p.Phe419Ile) SNV Uncertain significance 473127 rs766450555 2:69565592-69565592 2:69338460-69338460 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.1507C>T (p.Arg503Cys) SNV Uncertain significance 473129 rs1421146245 2:69556852-69556852 2:69329720-69329720 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.1480G>A (p.Asp494Asn) SNV Uncertain significance 473128 rs1553386276 2:69556879-69556879 2:69329747-69329747 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.1129A>G (p.Ser377Gly) SNV Uncertain significance 473125 rs1553388422 2:69569304-69569304 2:69342172-69342172 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.1(GFPT1):c.2055+3A>G SNV Uncertain significance 473132 rs937857366 2:69554043-69554043 2:69326911-69326911 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.1908G>C (p.Lys636Asn) SNV Uncertain significance 473131 rs368208403 2:69554139-69554139 2:69327007-69327007 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.1133A>T (p.Tyr378Phe) SNV Uncertain significance 473126 rs1553388418 2:69569300-69569300 2:69342168-69342168 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.1124G>C (p.Gly375Ala) SNV Uncertain significance 473124 rs1553388425 2:69569309-69569309 2:69342177-69342177 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.791+6C>T SNV Uncertain significance 473136 rs767647134 2:69577204-69577204 2:69350072-69350072 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.875A>T (p.His292Leu) SNV Uncertain significance 540354 rs1553389515 2:69575383-69575383 2:69348251-69348251 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.209A>G (p.Asp70Gly) SNV Uncertain significance 540352 rs530830788 2:69597147-69597147 2:69370015-69370015 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.1429G>T (p.Ala477Ser) SNV Uncertain significance 578884 rs1438504838 2:69556930-69556930 2:69329798-69329798 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.1955C>G (p.Thr652Arg) SNV Uncertain significance 838067 2:69554146-69554146 2:69327014-69327014 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.1922A>G (p.Glu641Gly) SNV Uncertain significance 853426 2:69554179-69554179 2:69327047-69327047 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.1243A>G (p.Met415Val) SNV Uncertain significance 851903 2:69565658-69565658 2:69338526-69338526 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.1154G>A (p.Arg385Gln) SNV Uncertain significance 842126 2:69569333-69569333 2:69342201-69342201 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.670A>G (p.Ile224Val) SNV Uncertain significance 861046 2:69581636-69581636 2:69354504-69354504 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.632T>A (p.Val211Glu) SNV Uncertain significance 846342 2:69581674-69581674 2:69354542-69354542 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.338A>G (p.Asp113Gly) SNV Uncertain significance 834413 2:69590688-69590688 2:69363556-69363556 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*5884A>G SNV Uncertain significance 896213 2:69547437-69547437 2:69320305-69320305 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*5820C>T SNV Uncertain significance 896214 2:69547501-69547501 2:69320369-69320369 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*5800G>A SNV Uncertain significance 896215 2:69547521-69547521 2:69320389-69320389 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*5764A>G SNV Uncertain significance 896216 2:69547557-69547557 2:69320425-69320425 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*5713T>C SNV Uncertain significance 896217 2:69547608-69547608 2:69320476-69320476 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*5476C>T SNV Uncertain significance 897817 2:69547845-69547845 2:69320713-69320713 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*5464A>G SNV Uncertain significance 897818 2:69547857-69547857 2:69320725-69320725 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*5448A>G SNV Uncertain significance 897819 2:69547873-69547873 2:69320741-69320741 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*5437G>A SNV Uncertain significance 897820 2:69547884-69547884 2:69320752-69320752 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*5390T>G SNV Uncertain significance 897821 2:69547931-69547931 2:69320799-69320799 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*5353C>T SNV Uncertain significance 898972 2:69547968-69547968 2:69320836-69320836 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*4830A>G SNV Uncertain significance 898973 2:69548491-69548491 2:69321359-69321359 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*4724A>T SNV Uncertain significance 894843 2:69548597-69548597 2:69321465-69321465 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.6T>G (p.Cys2Trp) SNV Uncertain significance 855967 2:69614198-69614198 2:69387066-69387066 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*6378G>A SNV Uncertain significance 898898 2:69546943-69546943 2:69319811-69319811 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*6136C>T SNV Uncertain significance 895935 2:69547185-69547185 2:69320053-69320053 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*6102T>G SNV Uncertain significance 895936 2:69547219-69547219 2:69320087-69320087 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*6039G>T SNV Uncertain significance 896211 2:69547282-69547282 2:69320150-69320150 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*4375A>G SNV Uncertain significance 896282 2:69548946-69548946 2:69321814-69321814 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*4230C>T SNV Uncertain significance 896283 2:69549091-69549091 2:69321959-69321959 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*4121A>G SNV Uncertain significance 896284 2:69549200-69549200 2:69322068-69322068 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*3921C>T SNV Uncertain significance 897902 2:69549400-69549400 2:69322268-69322268 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*3438A>G SNV Uncertain significance 897903 2:69549883-69549883 2:69322751-69322751 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*3287G>A SNV Uncertain significance 899039 2:69550034-69550034 2:69322902-69322902 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*2418C>T SNV Uncertain significance 899101 2:69550903-69550903 2:69323771-69323771 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*2410C>T SNV Uncertain significance 899102 2:69550911-69550911 2:69323779-69323779 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*2323C>T SNV Uncertain significance 899103 2:69550998-69550998 2:69323866-69323866 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*2017A>G SNV Uncertain significance 894971 2:69551304-69551304 2:69324172-69324172 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*1901A>G SNV Uncertain significance 894972 2:69551420-69551420 2:69324288-69324288 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*1738C>A SNV Uncertain significance 896411 2:69551583-69551583 2:69324451-69324451 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*1464A>G SNV Uncertain significance 896412 2:69551857-69551857 2:69324725-69324725 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*1057G>A SNV Uncertain significance 898043 2:69552264-69552264 2:69325132-69325132 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*977T>C SNV Uncertain significance 898044 2:69552344-69552344 2:69325212-69325212 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*819T>C SNV Uncertain significance 899162 2:69552502-69552502 2:69325370-69325370 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*1425C>T SNV Uncertain significance 336849 rs781269204 2:69551896-69551896 2:69324764-69324764 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*1401G>A SNV Uncertain significance 336850 rs868495183 2:69551920-69551920 2:69324788-69324788 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*1083A>C SNV Uncertain significance 336855 rs886056253 2:69552238-69552238 2:69325106-69325106 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*4259C>T SNV Uncertain significance 336805 rs186353485 2:69549062-69549062 2:69321930-69321930 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*4229A>T SNV Uncertain significance 336806 rs190736026 2:69549092-69549092 2:69321960-69321960 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*3090G>T SNV Uncertain significance 336822 rs886056241 2:69550231-69550231 2:69323099-69323099 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*2720C>T SNV Uncertain significance 336827 rs886056243 2:69550601-69550601 2:69323469-69323469 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*2509A>T SNV Uncertain significance 336832 rs866089468 2:69550812-69550812 2:69323680-69323680 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*3679G>C SNV Uncertain significance 336812 rs531890221 2:69549642-69549642 2:69322510-69322510 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*1741C>G SNV Uncertain significance 336845 rs886056248 2:69551580-69551580 2:69324448-69324448 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*2473C>T SNV Uncertain significance 336833 rs886056244 2:69550848-69550848 2:69323716-69323716 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*2464C>A SNV Uncertain significance 336834 rs541938366 2:69550857-69550857 2:69323725-69323725 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*2420C>T SNV Uncertain significance 336835 rs886056245 2:69550901-69550901 2:69323769-69323769 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*2368C>T SNV Uncertain significance 336836 rs572137795 2:69550953-69550953 2:69323821-69323821 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*2325G>A SNV Uncertain significance 336838 rs886056246 2:69550996-69550996 2:69323864-69323864 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*1869A>G SNV Uncertain significance 336844 rs886056247 2:69551452-69551452 2:69324320-69324320 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*1090G>A SNV Uncertain significance 336853 rs886056252 2:69552231-69552231 2:69325099-69325099 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*689A>G SNV Uncertain significance 336860 rs886056254 2:69552632-69552632 2:69325500-69325500 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*454T>G SNV Uncertain significance 336863 rs796956367 2:69552867-69552867 2:69325735-69325735 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*196G>A SNV Uncertain significance 336866 rs886056256 2:69553125-69553125 2:69325993-69325993 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*186G>T SNV Uncertain significance 336867 rs886056257 2:69553135-69553135 2:69326003-69326003 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*169C>T SNV Uncertain significance 336868 rs6729690 2:69553152-69553152 2:69326020-69326020 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*86C>A SNV Uncertain significance 336870 rs886056259 2:69553235-69553235 2:69326103-69326103 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.1440C>T (p.Ser480=) SNV Uncertain significance 336877 rs766223183 2:69556919-69556919 2:69329787-69329787 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.224-12C>T SNV Uncertain significance 336880 rs375455794 2:69590814-69590814 2:69363682-69363682 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.-153G>A SNV Uncertain significance 336885 rs886056265 2:69614356-69614356 2:69387224-69387224 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*6126A>G SNV Uncertain significance 336782 rs886056229 2:69547195-69547195 2:69320063-69320063 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*5514G>T SNV Uncertain significance 336788 rs886056232 2:69547807-69547807 2:69320675-69320675 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*5004G>A SNV Uncertain significance 336796 rs560585699 2:69548317-69548317 2:69321185-69321185 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*3579T>C SNV Uncertain significance 336813 rs886056239 2:69549742-69549742 2:69322610-69322610 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*3091A>T SNV Uncertain significance 336820 rs7582334 2:69550230-69550230 2:69323098-69323098 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*867G>A SNV Likely benign 336858 rs72905155 2:69552454-69552454 2:69325322-69325322 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*2916A>G SNV Likely benign 336826 rs114138715 2:69550405-69550405 2:69323273-69323273 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*4274A>T SNV Likely benign 336804 rs142243075 2:69549047-69549047 2:69321915-69321915 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*673A>G SNV Likely benign 899163 2:69552648-69552648 2:69325516-69325516 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*6003G>T SNV Likely benign 896212 2:69547318-69547318 2:69320186-69320186 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.816C>T (p.Arg272=) SNV Likely benign 473137 rs754486756 2:69575442-69575442 2:69348310-69348310 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.987A>T (p.Ile329=) SNV Likely benign 473140 rs772941507 2:69573100-69573100 2:69345968-69345968 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.981G>A (p.Lys327=) SNV Likely benign 473139 rs373488949 2:69573106-69573106 2:69345974-69345974 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.1893+7C>T SNV Likely benign 706541 2:69555396-69555396 2:69328264-69328264 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.1324+10_1324+15del deletion Likely benign 705639 2:69565562-69565567 2:69338430-69338435 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.1267C>T (p.Leu423=) SNV Likely benign 734537 2:69565634-69565634 2:69338502-69338502 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.768C>T (p.Leu256=) SNV Likely benign 739117 2:69577287-69577287 2:69350155-69350155 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.740-7G>A SNV Likely benign 759522 2:69577322-69577322 2:69350190-69350190 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.845+7T>C SNV Likely benign 767365 2:69577203-69577203 2:69350071-69350071 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.126T>C (p.Phe42=) SNV Likely benign 798086 2:69597230-69597230 2:69370098-69370098 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*4944A>G SNV Likely benign 336798 rs112572296 2:69548377-69548377 2:69321245-69321245 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*1053G>A SNV Likely benign 336856 rs535434783 2:69552268-69552268 2:69325136-69325136 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*2364C>T SNV Likely benign 336837 rs182934478 2:69550957-69550957 2:69323825-69323825 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*3134A>G SNV Likely benign 336819 rs79748218 2:69550187-69550187 2:69323055-69323055 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*2428G>A SNV Likely benign 897971 2:69550893-69550893 2:69323761-69323761 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.116-12A>G SNV Benign/Likely benign 257666 rs540758570 2:69597252-69597252 2:69370120-69370120 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.1(GFPT1):c.549T>C (p.Gly183=) SNV Benign/Likely benign 435322 rs144566433 2:69583684-69583684 2:69356552-69356552 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.223+5C>T SNV Benign/Likely benign 336881 rs200631666 2:69597128-69597128 2:69369996-69369996 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*6366T>C SNV Benign 336780 rs115964031 2:69546955-69546955 2:69319823-69319823 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*2669C>T SNV Benign 336829 rs10185336 2:69550652-69550652 2:69323520-69323520 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*3091A>C SNV Benign 336821 rs7582334 2:69550230-69550230 2:69323098-69323098 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*3065G>A SNV Benign 336823 rs7568296 2:69550256-69550256 2:69323124-69323124 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*5001G>A SNV Benign 336797 rs13396883 2:69548320-69548320 2:69321188-69321188 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*1244G>T SNV Benign 336851 rs73937246 2:69552077-69552077 2:69324945-69324945 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*1085A>G SNV Benign 336854 rs75177078 2:69552236-69552236 2:69325104-69325104 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*3285A>G SNV Benign 336818 rs7579532 2:69550036-69550036 2:69322904-69322904 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*2310A>G SNV Benign 336839 rs10198150 2:69551011-69551011 2:69323879-69323879 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*2269A>G SNV Benign 336840 rs10198171 2:69551052-69551052 2:69323920-69323920 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*4053T>A SNV Benign 336808 rs4128250 2:69549268-69549268 2:69322136-69322136 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*3781G>T SNV Benign 336811 rs116952694 2:69549540-69549540 2:69322408-69322408 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*870C>A SNV Benign 336857 rs77753566 2:69552451-69552451 2:69325319-69325319 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*800G>T SNV Benign 336859 rs2667 2:69552521-69552521 2:69325389-69325389 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*2907C>T SNV Benign 894913 2:69550414-69550414 2:69323282-69323282 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*4403G>T SNV Benign 894844 2:69548918-69548918 2:69321786-69321786 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*4059A>G SNV Benign 336807 rs13751 2:69549262-69549262 2:69322130-69322130 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*3345C>T SNV Benign 336816 rs73937245 2:69549976-69549976 2:69322844-69322844 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*2219C>T SNV Benign 336842 rs149217357 2:69551102-69551102 2:69323970-69323970 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*2685A>G SNV Benign 336828 rs74972420 2:69550636-69550636 2:69323504-69323504 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*6085C>G SNV Benign 336784 rs7642 2:69547236-69547236 2:69320104-69320104 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*4730G>A SNV Benign 336801 rs28694003 2:69548591-69548591 2:69321459-69321459 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*603G>A SNV Benign 336862 rs78097440 2:69552718-69552718 2:69325586-69325586 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*6094C>T SNV Benign 336783 rs55888680 2:69547227-69547227 2:69320095-69320095 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.408+7A>T SNV Benign 257668 rs112682152 2:69586393-69586393 2:69359261-69359261 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.2(GFPT1):c.*2511T>A SNV Benign 897968 2:69550810-69550810 2:69323678-69323678 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_002056.4(GFPT1):c.*4826A>C SNV Benign 336799 rs67016706 2:69548495-69548495 2:69321363-69321363 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.1(GFPT1):c.1105+7A>G SNV Benign 129151 rs6722492 2:69573029-69573029 2:69345897-69345897 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.1(GFPT1):c.147T>C (p.Asp49=) SNV Benign 129152 rs2230300 2:69597209-69597209 2:69370077-69370077 MYS074 Myasthenic Syndrome, Congenital, 12 GFPT1 NM_001244710.1(GFPT1):c.675C>T (p.Leu225=) SNV Benign 129153 rs78952091 2:69581631-69581631 2:69354499-69354499 MYS074 Myasthenic Syndrome, Congenital, 12 TRNP m.15967G>A SNV Pathogenic 9572 rs199474701 MT:15967-15967 MT:15967-15967 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers TRNF m.611G>A SNV Pathogenic 9574 rs118203886 MT:611-611 MT:611-611 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers TRNK m.8344A>G SNV Pathogenic 9579 rs118192098 MT:8344-8344 MT:8344-8344 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers TRNK m.8356T>C SNV Pathogenic 9580 rs118192099 MT:8356-8356 MT:8356-8356 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers TRNK m.8363G>A SNV Pathogenic 9581 rs118192100 MT:8363-8363 MT:8363-8363 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers TRNK m.8361G>A SNV Pathogenic 9585 rs118192104 MT:8361-8361 MT:8361-8361 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers TRNL1 NC_012920.1:m.3243A>G SNV Pathogenic 9589 rs199474657 MT:3243-3243 MT:3243-3243 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers TRNL1 m.3271T>C SNV Pathogenic 9590 rs199474658 MT:3271-3271 MT:3271-3271 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers TRNL1 m.3256C>T SNV Pathogenic 9591 rs199474659 MT:3256-3256 MT:3256-3256 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers ND5 m.13042G>A SNV Pathogenic 9703 rs267606898 MT:13042-13042 MT:13042-13042 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers TRNI NC_012920.1:m.4279A>G SNV Pathogenic 180710 rs797044543 MT:4279-4279 MT:4279-4279 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers TRNI m.4284G>A SNV Likely pathogenic 9604 rs121434468 MT:4284-4284 MT:4284-4284 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers TRNP m.15923A>G SNV Conflicting interpretations of pathogenicity 39575 rs1556424691 MT:15923-15923 MT:15923-15923 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers TRNT m.15923A>G SNV Conflicting interpretations of pathogenicity 39575 rs1556424691 MT:15923-15923 MT:15923-15923 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers NHLRC1 NM_198586.3(NHLRC1):c.76T>A (p.Cys26Ser) SNV Pathogenic 2586 rs28940575 6:18122762-18122762 6:18122531-18122531 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala) SNV Pathogenic 2587 rs28940576 6:18122633-18122633 6:18122402-18122402 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs) deletion Pathogenic 2588 rs587776542 6:18122369-18122370 6:18122138-18122139 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.992del (p.Gly331fs) deletion Pathogenic 2589 rs587776543 6:18121846-18121846 6:18121615-18121615 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.793C>T (p.Arg265Ter) SNV Pathogenic 2590 rs121917875 6:18122045-18122045 6:18121814-18121814 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.593T>A (p.Ile198Asn) SNV Pathogenic 2591 rs121917876 6:18122245-18122245 6:18122014-18122014 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.923A>C (p.Asp308Ala) SNV Pathogenic 2592 rs137852859 6:18121915-18121915 6:18121684-18121684 MYC079 Myoclonic Epilepsy of Lafora EPM2A NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) SNV Pathogenic 3098 rs104893950 6:145948827-145948827 6:145627691-145627691 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.560A>C (p.His187Pro) SNV Pathogenic 813783 6:18122278-18122278 6:18122047-18122047 MYC079 Myoclonic Epilepsy of Lafora EPM2A NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys) SNV Pathogenic 3100 rs137852915 6:146007412-146007412 6:145686276-145686276 MYC079 Myoclonic Epilepsy of Lafora EPM2A NM_005670.4(EPM2A):c.335dup (p.Tyr112Ter) duplication Pathogenic 3101 rs587776553 6:146007398-146007399 6:145686262-145686263 MYC079 Myoclonic Epilepsy of Lafora EPM2A NM_005670.4(EPM2A):c.953dup (p.Gln319fs) duplication Pathogenic 3106 rs587776554 6:145948594-145948595 6:145627458-145627459 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.462dup (p.Asp155Ter) duplication Pathogenic 663551 6:18122375-18122376 6:18122144-18122145 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.1091C>A (p.Ser364Ter) SNV Pathogenic 860910 6:18121747-18121747 6:18121516-18121516 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.386C>A (p.Pro129His) SNV Pathogenic 206187 rs750465793 6:18122452-18122452 6:18122221-18122221 MYC079 Myoclonic Epilepsy of Lafora EPM2A NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser) SNV Pathogenic/Likely pathogenic 3099 rs137852917 6:145948713-145948713 6:145627577-145627577 MYC079 Myoclonic Epilepsy of Lafora EPM2A NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly) SNV Likely pathogenic 3107 rs104893955 6:146056541-146056541 6:145735405-145735405 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.528C>G (p.Tyr176Ter) SNV Likely pathogenic 813891 6:18122310-18122310 6:18122079-18122079 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.195C>A (p.Ala65=) SNV Conflicting interpretations of pathogenicity 699775 6:18122643-18122643 6:18122412-18122412 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.990G>A (p.Gln330=) SNV Conflicting interpretations of pathogenicity 416515 rs148553723 6:18121848-18121848 6:18121617-18121617 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.969C>T (p.Ser323=) SNV Conflicting interpretations of pathogenicity 206179 rs142941035 6:18121869-18121869 6:18121638-18121638 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.1142A>G (p.Asp381Gly) SNV Conflicting interpretations of pathogenicity 206192 rs200201752 6:18121696-18121696 6:18121465-18121465 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.1091C>T (p.Ser364Leu) SNV Conflicting interpretations of pathogenicity 206182 rs78324544 6:18121747-18121747 6:18121516-18121516 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.681T>A (p.Asn227Lys) SNV Conflicting interpretations of pathogenicity 206190 rs140850172 6:18122157-18122157 6:18121926-18121926 MYC079 Myoclonic Epilepsy of Lafora EPM2A NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys) SNV Conflicting interpretations of pathogenicity 129003 rs187930476 6:146056472-146056472 6:145735336-145735336 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn) SNV Conflicting interpretations of pathogenicity 162618 rs769301934 6:18122402-18122402 6:18122171-18122171 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu) SNV Conflicting interpretations of pathogenicity 167350 rs139029314 6:18122806-18122806 6:18122575-18122575 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.46A>G (p.Met16Val) SNV Conflicting interpretations of pathogenicity 193518 rs146636139 6:18122792-18122792 6:18122561-18122561 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.513C>T (p.Ala171=) SNV Conflicting interpretations of pathogenicity 206177 rs148907696 6:18122325-18122325 6:18122094-18122094 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.478T>C (p.Cys160Arg) SNV Conflicting interpretations of pathogenicity 206189 rs200595273 6:18122360-18122360 6:18122129-18122129 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.422T>C (p.Val141Ala) SNV Conflicting interpretations of pathogenicity 206188 rs143537405 6:18122416-18122416 6:18122185-18122185 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.103C>G (p.His35Asp) SNV Uncertain significance 206184 rs752045674 6:18122735-18122735 6:18122504-18122504 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.*797A>G SNV Uncertain significance 356059 rs886061250 6:18120853-18120853 6:18120622-18120622 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.*406A>G SNV Uncertain significance 356066 rs886061251 6:18121244-18121244 6:18121013-18121013 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.*837G>A SNV Uncertain significance 356058 rs536257194 6:18120813-18120813 6:18120582-18120582 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.*248C>G SNV Uncertain significance 356074 rs182779486 6:18121402-18121402 6:18121171-18121171 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.1076T>A (p.Val359Asp) SNV Uncertain significance 356080 rs372993582 6:18121762-18121762 6:18121531-18121531 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.397G>A (p.Ala133Thr) SNV Uncertain significance 356082 rs886061254 6:18122441-18122441 6:18122210-18122210 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.*358_*361del deletion Uncertain significance 356067 rs550375620 6:18121289-18121292 6:18121058-18121061 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.*326C>T SNV Uncertain significance 356071 rs369668171 6:18121324-18121324 6:18121093-18121093 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.*875T>A SNV Uncertain significance 356057 rs72839174 6:18120775-18120775 6:18120544-18120544 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.*662C>G SNV Uncertain significance 356061 rs150615281 6:18120988-18120988 6:18120757-18120757 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.*332G>T SNV Uncertain significance 356070 rs140122442 6:18121318-18121318 6:18121087-18121087 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.*61C>A SNV Uncertain significance 356078 rs886061252 6:18121589-18121589 6:18121358-18121358 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.541A>G (p.Thr181Ala) SNV Uncertain significance 356081 rs886061253 6:18122297-18122297 6:18122066-18122066 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.*442G>C SNV Uncertain significance 356065 rs555214908 6:18121208-18121208 6:18120977-18120977 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.*248C>A SNV Uncertain significance 356075 rs182779486 6:18121402-18121402 6:18121171-18121171 MYC079 Myoclonic Epilepsy of Lafora EPM2A NM_005670.4(EPM2A):c.143G>A (p.Gly48Asp) SNV Uncertain significance 377829 rs946076987 6:146056492-146056492 6:145735356-145735356 MYC079 Myoclonic Epilepsy of Lafora EPM2A NM_005670.4(EPM2A):c.488A>G (p.Asn163Ser) SNV Uncertain significance 205426 rs141919651 6:145956611-145956611 6:145635475-145635475 MYC079 Myoclonic Epilepsy of Lafora EPM2A NM_005670.4(EPM2A):c.136G>A (p.Ala46Thr) SNV Uncertain significance 205444 rs374338349 6:146056499-146056499 6:145735363-145735363 MYC079 Myoclonic Epilepsy of Lafora EPM2A NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg) SNV Uncertain significance 193326 rs374826256 6:146056400-146056400 6:145735264-145735264 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.470G>A (p.Gly157Glu) SNV Uncertain significance 662633 6:18122368-18122368 6:18122137-18122137 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.485A>C (p.His162Pro) SNV Uncertain significance 656381 6:18122353-18122353 6:18122122-18122122 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.575A>T (p.Asp192Val) SNV Uncertain significance 648810 6:18122263-18122263 6:18122032-18122032 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.1165G>T (p.Val389Phe) SNV Uncertain significance 662660 6:18121673-18121673 6:18121442-18121442 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.203G>C (p.Cys68Ser) SNV Uncertain significance 846130 6:18122635-18122635 6:18122404-18122404 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.307G>A (p.Ala103Thr) SNV Uncertain significance 840971 6:18122531-18122531 6:18122300-18122300 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.415G>A (p.Gly139Arg) SNV Uncertain significance 844833 6:18122423-18122423 6:18122192-18122192 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.713C>A (p.Ser238Tyr) SNV Uncertain significance 860322 6:18122125-18122125 6:18121894-18121894 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.754C>T (p.Arg252Trp) SNV Uncertain significance 851311 6:18122084-18122084 6:18121853-18121853 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.775G>T (p.Ala259Ser) SNV Uncertain significance 858527 6:18122063-18122063 6:18121832-18121832 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.808T>G (p.Ser270Ala) SNV Uncertain significance 839070 6:18122030-18122030 6:18121799-18121799 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.551A>G (p.Asn184Ser) SNV Uncertain significance 206178 rs138667242 6:18122287-18122287 6:18122056-18122056 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.1090T>A (p.Ser364Thr) SNV Uncertain significance 206181 rs370044232 6:18121748-18121748 6:18121517-18121517 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.805G>A (p.Val269Met) SNV Uncertain significance 206196 rs140164729 6:18122033-18122033 6:18121802-18121802 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.215G>A (p.Arg72Lys) SNV Uncertain significance 652203 6:18122623-18122623 6:18122392-18122392 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.269T>C (p.Ile90Thr) SNV Uncertain significance 650494 6:18122569-18122569 6:18122338-18122338 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.1132C>G (p.Leu378Val) SNV Uncertain significance 853751 6:18121706-18121706 6:18121475-18121475 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.107G>A (p.Arg36Gln) SNV Uncertain significance 904860 6:18122731-18122731 6:18122500-18122500 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.515A>G (p.Gln172Arg) SNV Uncertain significance 904085 6:18122323-18122323 6:18122092-18122092 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.*38G>T SNV Uncertain significance 904084 6:18121612-18121612 6:18121381-18121381 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.*153A>T SNV Uncertain significance 907412 6:18121497-18121497 6:18121266-18121266 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.*175T>C SNV Uncertain significance 907411 6:18121475-18121475 6:18121244-18121244 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.*210T>C SNV Uncertain significance 907410 6:18121440-18121440 6:18121209-18121209 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.*327G>C SNV Uncertain significance 906407 6:18121323-18121323 6:18121092-18121092 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.*537T>C SNV Uncertain significance 905889 6:18121113-18121113 6:18120882-18120882 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.418C>T (p.Arg140Cys) SNV Uncertain significance 410971 rs148035405 6:18122420-18122420 6:18122189-18122189 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.1053G>C (p.Glu351Asp) SNV Uncertain significance 531813 rs377395116 6:18121785-18121785 6:18121554-18121554 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.107G>C (p.Arg36Pro) SNV Uncertain significance 571831 rs764691077 6:18122731-18122731 6:18122500-18122500 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.874A>T (p.Thr292Ser) SNV Uncertain significance 567398 rs200214191 6:18121964-18121964 6:18121733-18121733 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.755G>A (p.Arg252Gln) SNV Uncertain significance 566183 rs371072212 6:18122083-18122083 6:18121852-18121852 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.713C>T (p.Ser238Phe) SNV Uncertain significance 578544 rs747276703 6:18122125-18122125 6:18121894-18121894 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.584A>G (p.Asp195Gly) SNV Uncertain significance 578187 rs367649330 6:18122254-18122254 6:18122023-18122023 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.406C>T (p.Pro136Ser) SNV Uncertain significance 575633 rs1561882043 6:18122432-18122432 6:18122201-18122201 MYC079 Myoclonic Epilepsy of Lafora EPM2A NM_005670.4(EPM2A):c.524A>G (p.His175Arg) SNV Uncertain significance 626099 rs1264840627 6:145956575-145956575 6:145635439-145635439 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.691G>A (p.Val231Ile) SNV Uncertain significance 410972 rs1060503098 6:18122147-18122147 6:18121916-18121916 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.374C>A (p.Thr125Asn) SNV Uncertain significance 426938 rs1085307861 6:18122464-18122464 6:18122233-18122233 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.178C>T (p.His60Tyr) SNV Uncertain significance 449234 rs539307365 6:18122660-18122660 6:18122429-18122429 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.494G>A (p.Gly165Glu) SNV Uncertain significance 462940 rs1554136449 6:18122344-18122344 6:18122113-18122113 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.307G>T (p.Ala103Ser) SNV Uncertain significance 462939 rs568131096 6:18122531-18122531 6:18122300-18122300 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.184C>T (p.Arg62Cys) SNV Uncertain significance 462938 rs761458140 6:18122654-18122654 6:18122423-18122423 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.1013C>T (p.Thr338Ile) SNV Uncertain significance 462937 rs1388505858 6:18121825-18121825 6:18121594-18121594 MYC079 Myoclonic Epilepsy of Lafora EPM2A NM_005670.4(EPM2A):c.512G>A (p.Arg171His) SNV Uncertain significance 3102 rs137852916 6:145956587-145956587 6:145635451-145635451 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.123G>C (p.Pro41=) SNV Likely benign 729018 6:18122715-18122715 6:18122484-18122484 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.1092G>A (p.Ser364=) SNV Likely benign 760655 6:18121746-18121746 6:18121515-18121515 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.642A>G (p.Gln214=) SNV Likely benign 512757 rs754756237 6:18122196-18122196 6:18121965-18121965 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.882G>T (p.Val294=) SNV Likely benign 531815 rs1314207581 6:18121956-18121956 6:18121725-18121725 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.228G>T (p.Arg76=) SNV Likely benign 531814 rs1409114977 6:18122610-18122610 6:18122379-18122379 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.27G>A (p.Gly9=) SNV Likely benign 416514 rs765575310 6:18122811-18122811 6:18122580-18122580 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.*720T>C SNV Likely benign 356060 rs141863990 6:18120930-18120930 6:18120699-18120699 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.*320G>A SNV Likely benign 356072 rs79197160 6:18121330-18121330 6:18121099-18121099 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.*875T>C SNV Likely benign 356056 rs72839174 6:18120775-18120775 6:18120544-18120544 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.*336G>A SNV Benign 356069 rs10949482 6:18121314-18121314 6:18121083-18121083 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.*237T>C SNV Benign 356076 rs73379118 6:18121413-18121413 6:18121182-18121182 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.*626C>T SNV Benign 356062 rs10949480 6:18121024-18121024 6:18120793-18120793 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.*482C>G SNV Benign 356064 rs114713758 6:18121168-18121168 6:18120937-18120937 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.*55G>C SNV Benign 356079 rs11966789 6:18121595-18121595 6:18121364-18121364 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.*276G>C SNV Benign 356073 rs11966748 6:18121374-18121374 6:18121143-18121143 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.*85T>A SNV Benign 356077 rs73379121 6:18121565-18121565 6:18121334-18121334 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.*621T>A SNV Benign 356063 rs10949481 6:18121029-18121029 6:18120798-18120798 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.*344A>T SNV Benign 356068 rs147528518 6:18121306-18121306 6:18121075-18121075 MYC079 Myoclonic Epilepsy of Lafora EPM2A NM_005670.4(EPM2A):c.159C>G (p.Ala53=) SNV Benign 95306 rs2235482 6:146056476-146056476 6:145735340-145735340 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.*886G>A SNV Benign 904016 6:18120764-18120764 6:18120533-18120533 MYC079 Myoclonic Epilepsy of Lafora EPM2A NM_005670.4(EPM2A):c.402G>A (p.Gly134=) SNV Benign 129005 rs35230590 6:146007332-146007332 6:145686196-145686196 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.312T>C (p.His104=) SNV Benign 129766 rs115931931 6:18122526-18122526 6:18122295-18122295 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu) SNV Benign 129767 rs10949483 6:18122506-18122506 6:18122275-18122275 MYC079 Myoclonic Epilepsy of Lafora NHLRC1 NM_198586.3(NHLRC1):c.303G>T (p.Pro101=) SNV Benign 138522 rs187783545 6:18122535-18122535 6:18122304-18122304 MYC079 Myoclonic Epilepsy of Lafora EPM2A NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro) SNV Benign 162617 rs374338349 6:146056499-146056499 6:145735363-145735363 MYC079 Myoclonic Epilepsy of Lafora COX1 m.5920G>A SNV Pathogenic 9669 rs199476129 MT:5920-5920 MT:5920-5920 MYG007 Myoglobinuria, Recurrent EMD NM_000117.2(EMD):c.184dup (p.Ser62fs) duplication Pathogenic 523333 rs1557182317 X:153608150-153608151 X:154379790-154379791 MYP004 Myopathy TEKT3 GRCh37/hg19 17p12(chr17:14215739-15422582) copy number loss Pathogenic 523238 17:14215739-15422582 MYP004 Myopathy TVP23C GRCh37/hg19 17p12(chr17:14215739-15422582) copy number loss Pathogenic 523238 17:14215739-15422582 MYP004 Myopathy TVP23C-CDRT4 GRCh37/hg19 17p12(chr17:14215739-15422582) copy number loss Pathogenic 523238 17:14215739-15422582 MYP004 Myopathy CDRT4 GRCh37/hg19 17p12(chr17:14215739-15422582) copy number loss Pathogenic 523238 17:14215739-15422582 MYP004 Myopathy HS3ST3B1 GRCh37/hg19 17p12(chr17:14215739-15422582) copy number loss Pathogenic 523238 17:14215739-15422582 MYP004 Myopathy PMP22 GRCh37/hg19 17p12(chr17:14215739-15422582) copy number loss Pathogenic 523238 17:14215739-15422582 MYP004 Myopathy TEKT3 GRCh37/hg19 17p12(chr17:14215739-15422582) copy number loss Pathogenic 523259 17:14215739-15422582 MYP004 Myopathy TVP23C GRCh37/hg19 17p12(chr17:14215739-15422582) copy number loss Pathogenic 523259 17:14215739-15422582 MYP004 Myopathy TVP23C-CDRT4 GRCh37/hg19 17p12(chr17:14215739-15422582) copy number loss Pathogenic 523259 17:14215739-15422582 MYP004 Myopathy CDRT4 GRCh37/hg19 17p12(chr17:14215739-15422582) copy number loss Pathogenic 523259 17:14215739-15422582 MYP004 Myopathy HS3ST3B1 GRCh37/hg19 17p12(chr17:14215739-15422582) copy number loss Pathogenic 523259 17:14215739-15422582 MYP004 Myopathy PMP22 GRCh37/hg19 17p12(chr17:14215739-15422582) copy number loss Pathogenic 523259 17:14215739-15422582 MYP004 Myopathy BICD2 NM_001003800.2(BICD2):c.2239C>T (p.Arg747Cys) SNV Pathogenic 637067 9:95480098-95480098 9:92717816-92717816 MYP004 Myopathy DMD NM_000109.4(DMD):c.7556T>A (p.Leu2519Ter) SNV Pathogenic 689572 X:31747828-31747828 X:31729711-31729711 MYP004 Myopathy MTM1 NC_000023.11:g.150583230_150648535del deletion Pathogenic 812933 X:149751687-149817005 MYP004 Myopathy UNC45B NM_001267052.2(UNC45B):c.2255G>A (p.Arg752Gln) SNV Pathogenic 834072 rs139715157 17:33504629-33504629 17:35177610-35177610 MYP004 Myopathy GAA NM_000152.5(GAA):c.-32-13T>G SNV Pathogenic 4027 rs386834236 17:78078341-78078341 17:80104542-80104542 MYP004 Myopathy SCN4A NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln) SNV Pathogenic 5919 rs121908557 17:62034874-62034874 17:63957514-63957514 MYP004 Myopathy DNM2 NM_001005360.2(DNM2):c.1102G>A (p.Glu368Lys) SNV Pathogenic 7282 rs121909092 19:10904505-10904505 19:10793829-10793829 MYP004 Myopathy TRIM32 NM_001365068.1(ASTN2):c.2806+26570C>T SNV Pathogenic 7350 rs111033570 9:119461480-119461480 9:116699201-116699201 MYP004 Myopathy TRNP m.15990C>T SNV Pathogenic 9570 rs199474699 MT:15990-15990 MT:15990-15990 MYP004 Myopathy TRNQ m.4369_4370insA duplication Pathogenic 9614 rs199476140 MT:4365-4366 MT:4365-4366 MYP004 Myopathy CAPN3 NM_000070.3(CAPN3):c.550del (p.Thr184fs) deletion Pathogenic 17621 rs80338800 15:42680001-42680001 15:42387803-42387803 MYP004 Myopathy TTN NM_001267550.2(TTN):c.42482_42485TTGT[1] (p.Cys14163fs) short repeat Pathogenic 212468 rs797046064 2:179498737-179498740 2:178634010-178634013 MYP004 Myopathy TTN NM_001267550.2(TTN):c.23903_23904delinsA (p.Gly7968fs) indel Pathogenic 212463 rs797046060 2:179584315-179584316 2:178719588-178719589 MYP004 Myopathy COL6A3 NM_004369.3(COL6A3):c.6181C>T (p.Arg2061Ter) SNV Pathogenic 210752 rs797045479 2:238269793-238269793 2:237361150-237361150 MYP004 Myopathy RYR1 NM_000540.2(RYR1):c.1878_1882del (p.Pro626_Gly627insTer) deletion Pathogenic 212098 rs797045931 19:38948220-38948224 19:38457580-38457584 MYP004 Myopathy RYR1 NM_000540.2(RYR1):c.2505del (p.Pro836fs) deletion Pathogenic 212099 rs797045932 19:38951155-38951155 19:38460515-38460515 MYP004 Myopathy RYR1 NM_000540.2(RYR1):c.3381+1G>A SNV Pathogenic 212103 rs797045934 19:38958453-38958453 19:38467813-38467813 MYP004 Myopathy RYR1 NM_000540.2(RYR1):c.8724C>A (p.Tyr2908Ter) SNV Pathogenic 212107 rs797045935 19:38997500-38997500 19:38506860-38506860 MYP004 Myopathy COL6A1 NM_001848.2(COL6A1):c.1003-2A>G SNV Pathogenic 210745 rs797045477 21:47410685-47410685 21:45990771-45990771 MYP004 Myopathy TTN NM_001267550.2(TTN):c.74567G>A (p.Trp24856Ter) SNV Pathogenic 374037 rs1057518851 2:179436292-179436292 2:178571565-178571565 MYP004 Myopathy DMD NM_004006.2(DMD):c.5699T>G (p.Leu1900Ter) SNV Pathogenic 374059 rs1057518866 X:32361291-32361291 X:32343174-32343174 MYP004 Myopathy ACADVL NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln) SNV Pathogenic/Likely pathogenic 374123 rs138058572 17:7127312-7127312 17:7223993-7223993 MYP004 Myopathy ACADVL NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) SNV Pathogenic/Likely pathogenic 203585 rs751995154 17:7127330-7127330 17:7224011-7224011 MYP004 Myopathy CLCN1 NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) SNV Pathogenic/Likely pathogenic 17545 rs55960271 7:143048771-143048771 7:143351678-143351678 MYP004 Myopathy ANO5 NM_001142649.2(ANO5):c.188dup (p.Asn63fs) duplication Pathogenic/Likely pathogenic 2164 rs137854521 11:22242646-22242647 11:22221100-22221101 MYP004 Myopathy TTN NM_001267550.2(TTN):c.35265dup (p.Pro11756fs) duplication Likely pathogenic 523429 rs1198364572 2:179535859-179535860 2:178671132-178671133 MYP004 Myopathy CAPN3 NM_000070.3(CAPN3):c.632+5G>A SNV Likely pathogenic 523316 rs1555420508 15:42680089-42680089 15:42387891-42387891 MYP004 Myopathy SFTPC NM_003018.4(SFTPC):c.163C>T (p.Leu55Phe) SNV Likely pathogenic 598978 rs1563221666 8:22020207-22020207 8:22162694-22162694 MYP004 Myopathy RAPSN NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys) SNV Likely pathogenic 8054 rs104894294 11:47469405-47469405 11:47447853-47447853 MYP004 Myopathy MYH7 NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) SNV Likely pathogenic 164324 rs2754158 14:23894085-23894085 14:23424876-23424876 MYP004 Myopathy TPM3 NM_152263.4(TPM3):c.734G>T (p.Arg245Ile) SNV Likely pathogenic 212412 rs797046047 1:154142917-154142917 1:154170441-154170441 MYP004 Myopathy MYH7 NM_000257.4(MYH7):c.4886T>C (p.Leu1629Pro) SNV Likely pathogenic 211558 rs797045730 14:23885280-23885280 14:23416071-23416071 MYP004 Myopathy DPM3 NM_153741.2(DPM3):c.137T>A (p.Leu46Gln) SNV Likely pathogenic 374109 rs1057518905 1:155112580-155112580 1:155140104-155140104 MYP004 Myopathy COL6A2 NM_001849.3(COL6A2):c.892G>A (p.Gly298Arg) SNV Likely pathogenic 210750 rs797045478 21:47535959-47535959 21:46116045-46116045 MYP004 Myopathy ANO5 NM_213599.2(ANO5):c.2029+2dup duplication Likely pathogenic 374043 rs1057518855 11:22291989-22291990 11:22270443-22270444 MYP004 Myopathy DMD NM_004010.3(DMD):c.-193del deletion Likely pathogenic 374010 rs1057518834 X:32867854-32867854 X:32849737-32849737 MYP004 Myopathy RYR1 NM_000540.2(RYR1):c.1186G>A (p.Glu396Lys) SNV Likely pathogenic 374199 rs774919231 19:38942467-38942467 19:38451827-38451827 MYP004 Myopathy RYR1 NM_000540.2(RYR1):c.8463G>A (p.Trp2821Ter) SNV Likely pathogenic 373926 rs1057518773 19:38996508-38996508 19:38505868-38505868 MYP004 Myopathy RYR1 NM_000540.2(RYR1):c.3235_3240dup (p.Ser1079_Tyr1080dup) duplication Likely pathogenic 212102 rs797045933 19:38958305-38958306 19:38467665-38467666 MYP004 Myopathy DYNC1H1 NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys) SNV Conflicting interpretations of pathogenicity 374099 rs879253979 14:102446288-102446288 14:101979951-101979951 MYP004 Myopathy DYNC1H1 NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg) SNV Conflicting interpretations of pathogenicity 373991 rs139842853 14:102471451-102471451 14:102005114-102005114 MYP004 Myopathy RYR1 NM_000540.2(RYR1):c.844C>T (p.Arg282Trp) SNV Conflicting interpretations of pathogenicity 374200 rs1057518970 19:38939038-38939038 19:38448398-38448398 MYP004 Myopathy COL6A2 NM_001849.3(COL6A2):c.2633C>T (p.Ala878Val) SNV Conflicting interpretations of pathogenicity 210748 rs774521989 21:47552039-47552039 21:46132125-46132125 MYP004 Myopathy ANO5 NM_213599.2(ANO5):c.1664G>T (p.Ser555Ile) SNV Conflicting interpretations of pathogenicity 286450 rs375014127 11:22283708-22283708 11:22262162-22262162 MYP004 Myopathy RYR1 NM_001042723.2(RYR1):c.2654G>A (p.Arg885His) SNV Conflicting interpretations of pathogenicity 212100 rs370634440 19:38954139-38954139 19:38463499-38463499 MYP004 Myopathy TTN NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) SNV Conflicting interpretations of pathogenicity 191971 rs201257644 2:179500777-179500777 2:178636050-178636050 MYP004 Myopathy TTN NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) SNV Conflicting interpretations of pathogenicity 202529 rs757082154 2:179392218-179392218 2:178527491-178527491 MYP004 Myopathy TTN NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter) SNV Conflicting interpretations of pathogenicity 202356 rs746721983 2:179571356-179571356 2:178706629-178706629 MYP004 Myopathy COL6A2 NM_001849.3(COL6A2):c.2489G>A (p.Arg830Gln) SNV Conflicting interpretations of pathogenicity 210747 rs139552940 21:47551895-47551895 21:46131981-46131981 MYP004 Myopathy TTN NM_001267550.2(TTN):c.81899G>A (p.Arg27300His) SNV Conflicting interpretations of pathogenicity 47404 rs55850344 2:179428960-179428960 2:178564233-178564233 MYP004 Myopathy TTN NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr) SNV Conflicting interpretations of pathogenicity 179037 rs200766837 2:179412550-179412550 2:178547823-178547823 MYP004 Myopathy TTN NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr) SNV Conflicting interpretations of pathogenicity 179981 rs201804005 2:179437255-179437255 2:178572528-178572528 MYP004 Myopathy SCN4A NM_000334.4(SCN4A):c.3424C>T (p.Arg1142Ter) SNV Conflicting interpretations of pathogenicity 453303 rs912001256 17:62024422-62024422 17:63947062-63947062 MYP004 Myopathy RAPSN NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) SNV Conflicting interpretations of pathogenicity 8046 rs104894299 11:47469631-47469631 11:47448079-47448079 MYP004 Myopathy ANO5 NM_213599.2(ANO5):c.1362G>A (p.Thr454=) SNV Conflicting interpretations of pathogenicity 689569 11:22279255-22279255 11:22257709-22257709 MYP004 Myopathy PYGM NM_005609.4(PYGM):c.661-5del deletion Uncertain significance 689570 11:64523035-64523035 11:64755563-64755563 MYP004 Myopathy ARHGEF10 NM_014629.4(ARHGEF10):c.1081A>T (p.Arg361Ter) SNV Uncertain significance 800357 rs774853645 8:1833772-1833772 8:1885606-1885606 MYP004 Myopathy CPT2 NM_000098.3(CPT2):c.1766C>T (p.Thr589Met) SNV Uncertain significance 804352 rs756414686 1:53679056-53679056 1:53213384-53213384 MYP004 Myopathy SMCHD1 GRCh37/hg19 18p11.32(chr18:2682920-2803186)x3 copy number gain Uncertain significance 635774 18:2671435-2816143 MYP004 Myopathy DLGAP1 GRCh37/hg19 18p11.31(chr18:3540677-3890654)x3 copy number gain Uncertain significance 635775 18:3521896-3899296 MYP004 Myopathy DLGAP1-AS2 GRCh37/hg19 18p11.31(chr18:3540677-3890654)x3 copy number gain Uncertain significance 635775 18:3521896-3899296 MYP004 Myopathy PIEZO2 NM_022068.3(PIEZO2):c.2960C>T (p.Thr987Ile) SNV Uncertain significance 689372 18:10763008-10763008 18:10763010-10763010 MYP004 Myopathy DYSF NM_001130987.2(DYSF):c.1432A>G (p.Ile478Val) SNV Uncertain significance 689559 2:71762202-71762202 2:71535072-71535072 MYP004 Myopathy DES NM_001927.4(DES):c.407T>A (p.Leu136His) SNV Uncertain significance 44261 rs397516695 2:220283591-220283591 2:219418869-219418869 MYP004 Myopathy TRNS1 NC_012920.1:m.7496T>C SNV Uncertain significance 370049 rs1057516061 MT:7496-7496 MT:7496-7496 MYP004 Myopathy SLC2A1 NM_006516.3(SLC2A1):c.1407G>C (p.Gln469His) SNV Uncertain significance 374095 rs201748668 1:43392784-43392784 1:42927113-42927113 MYP004 Myopathy DAG1 NM_004393.6(DAG1):c.932G>A (p.Arg311Gln) SNV Uncertain significance 374069 rs752813826 3:49568876-49568876 3:49531443-49531443 MYP004 Myopathy RYR1 NM_000540.3(RYR1):c.396C>T (p.Phe132=) SNV Likely benign 689565 19:38934408-38934408 19:38443768-38443768 MYP004 Myopathy ANO5 NM_213599.2(ANO5):c.2030-3_2030-2dup duplication Likely benign 689560 11:22294325-22294326 11:22272779-22272780 MYP004 Myopathy CHCHD10 NM_213720.3(CHCHD10):c.44G>T (p.Arg15Leu) SNV Pathogenic 180220 rs730880030 22:24109778-24109778 22:23767591-23767591 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.176C>T (p.Ser59Leu) SNV Likely pathogenic 140745 rs587777574 22:24109646-24109646 22:23767459-23767459 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu) SNV Conflicting interpretations of pathogenicity 204292 rs775332895 22:24109583-24109583 22:23767396-23767396 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.327C>G (p.Phe109Leu) SNV Uncertain significance 540612 rs1438034155 22:24108397-24108397 22:23766210-23766210 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.312C>A (p.Tyr104Ter) SNV Uncertain significance 569761 rs9153 22:24108412-24108412 22:23766225-23766225 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.386T>C (p.Leu129Pro) SNV Uncertain significance 568579 rs1569149526 22:24108338-24108338 22:23766151-23766151 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.276T>A (p.Ala92=) SNV Uncertain significance 567906 rs1252496774 22:24108448-24108448 22:23766261-23766261 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.190G>A (p.Val64Ile) SNV Uncertain significance 573913 rs781304084 22:24109632-24109632 22:23767445-23767445 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.312C>G (p.Tyr104Ter) SNV Uncertain significance 565755 rs9153 22:24108412-24108412 22:23766225-23766225 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.197G>A (p.Gly66Asp) SNV Uncertain significance 572533 rs730880031 22:24109625-24109625 22:23767438-23767438 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.31C>G (p.Arg11Gly) SNV Uncertain significance 570385 rs951686050 22:24110031-24110031 22:23767844-23767844 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.410G>T (p.Gly137Val) SNV Uncertain significance 648284 22:24108213-24108213 22:23766026-23766026 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.377G>A (p.Ser126Asn) SNV Uncertain significance 640224 22:24108347-24108347 22:23766160-23766160 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.332A>G (p.Asp111Gly) SNV Uncertain significance 652408 22:24108392-24108392 22:23766205-23766205 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.224G>A (p.Gly75Glu) SNV Uncertain significance 640736 22:24109598-24109598 22:23767411-23767411 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.214G>C (p.Ala72Pro) SNV Uncertain significance 652563 22:24109608-24109608 22:23767421-23767421 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.196G>A (p.Gly66Ser) SNV Uncertain significance 655998 22:24109626-24109626 22:23767439-23767439 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.151A>G (p.Thr51Ala) SNV Uncertain significance 655109 22:24109671-24109671 22:23767484-23767484 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.42C>T (p.Ser14=) SNV Uncertain significance 655645 22:24109780-24109780 22:23767593-23767593 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NC_000022.11:g.(?_23767364)_(23767982_?)del deletion Uncertain significance 654106 22:24109551-24110169 22:23767364-23767982 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NC_000022.10:g.(?_24108011)_(24110169_?)dup duplication Uncertain significance 665651 22:24108011-24110169 22:23765824-23767982 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NC_000022.10:g.(?_24108174)_(24110081_?)dup duplication Uncertain significance 473419 22:24108174-24110081 22:23765987-23767894 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.214G>A (p.Ala72Thr) SNV Uncertain significance 473421 rs542541060 22:24109608-24109608 22:23767421-23767421 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.349A>T (p.Ser117Cys) SNV Uncertain significance 473426 rs931085449 22:24108375-24108375 22:23766188-23766188 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.274G>A (p.Ala92Thr) SNV Uncertain significance 540611 rs374353973 22:24108450-24108450 22:23766263-23766263 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NC_000022.11:g.(?_23765824)_(23767603_?)del deletion Uncertain significance 831034 22:24108011-24109790 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.382G>T (p.Ala128Ser) SNV Uncertain significance 836327 22:24108342-24108342 22:23766155-23766155 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.200G>A (p.Ser67Asn) SNV Uncertain significance 844201 22:24109622-24109622 22:23767435-23767435 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.44G>A (p.Arg15His) SNV Uncertain significance 851626 22:24109778-24109778 22:23767591-23767591 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.16C>G (p.Arg6Gly) SNV Uncertain significance 857529 22:24110046-24110046 22:23767859-23767859 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.8G>T (p.Arg3Leu) SNV Uncertain significance 855585 22:24110054-24110054 22:23767867-23767867 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.113C>T (p.Pro38Leu) SNV Likely benign 540613 rs564997204 22:24109709-24109709 22:23767522-23767522 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.171G>A (p.Val57=) SNV Likely benign 506461 rs780298646 22:24109651-24109651 22:23767464-23767464 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.403T>C (p.Tyr135His) SNV Likely benign 540614 rs145649831 22:24108321-24108321 22:23766134-23766134 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.42-9C>A SNV Likely benign 540615 rs1392906115 22:24109789-24109789 22:23767602-23767602 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.378C>T (p.Ser126=) SNV Likely benign 473427 rs199579266 22:24108346-24108346 22:23766159-23766159 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.229A>G (p.Ser77Gly) SNV Likely benign 705839 22:24109593-24109593 22:23767406-23767406 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.273C>T (p.Pro91=) SNV Likely benign 776092 22:24108451-24108451 22:23766264-23766264 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.410-8del deletion Likely benign 763752 22:24108221-24108221 22:23766034-23766034 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.153G>T (p.Thr51=) SNV Likely benign 799784 22:24109669-24109669 22:23767482-23767482 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.21C>T (p.Ser7=) SNV Likely benign 473422 rs984321947 22:24110041-24110041 22:23767854-23767854 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser) SNV Benign/Likely benign 204291 rs551521196 22:24109722-24109722 22:23767535-23767535 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.41+7G>A SNV Benign 473428 rs141526972 22:24110014-24110014 22:23767827-23767827 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.42-7C>G SNV Benign 473429 rs567239313 22:24109787-24109787 22:23767600-23767600 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.330G>A (p.Leu110=) SNV Benign 473425 rs138183274 22:24108394-24108394 22:23766207-23766207 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.286C>A (p.Pro96Thr) SNV Benign 473424 rs111677724 22:24108438-24108438 22:23766251-23766251 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.234G>A (p.Ser78=) SNV Benign 473423 rs111527940 22:24109588-24109588 22:23767401-23767401 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.136G>T (p.Ala46Ser) SNV Benign 473420 rs200831077 22:24109686-24109686 22:23767499-23767499 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.43C>G (p.Arg15Gly) SNV no interpretation for the single variant 242571 rs730880032 22:24109779-24109779 22:23767592-23767592 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.43C>A (p.Arg15Ser) SNV no interpretation for the single variant 242619 rs730880032 22:24109779-24109779 22:23767592-23767592 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant CHCHD10 NM_213720.3(CHCHD10):c.172G>C (p.Gly58Arg) SNV no interpretation for the single variant 242618 rs730880033 22:24109650-24109650 22:23767463-23767463 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant PUS1 NM_025215.6(PUS1):c.1122C>G (p.Tyr374Ter) SNV Pathogenic 691962 12:132426414-132426414 12:131941869-131941869 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.430C>T (p.Arg144Trp) SNV Pathogenic 2536 rs104894371 12:132416846-132416846 12:131932301-131932301 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.658G>T (p.Glu220Ter) SNV Pathogenic 2537 rs104894372 12:132425950-132425950 12:131941405-131941405 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.883C>T (p.Arg295Trp) SNV Pathogenic 221982 rs869025309 12:132426175-132426175 12:131941630-131941630 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.717C>A (p.Tyr239Ter) SNV Likely pathogenic 402238 rs779651314 12:132426009-132426009 12:131941464-131941464 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.813del (p.Phe272fs) deletion Likely pathogenic 587566 rs1566148136 12:132426103-132426103 12:131941558-131941558 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.1214C>T (p.Thr405Met) SNV Conflicting interpretations of pathogenicity 618854 rs149378338 12:132426506-132426506 12:131941961-131941961 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.984G>A (p.Ala328=) SNV Conflicting interpretations of pathogenicity 215038 rs143660941 12:132426276-132426276 12:131941731-131941731 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.1140C>T (p.Thr380=) SNV Conflicting interpretations of pathogenicity 215040 rs138198591 12:132426432-132426432 12:131941887-131941887 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.1008G>A (p.Glu336=) SNV Conflicting interpretations of pathogenicity 787676 12:132426300-132426300 12:131941755-131941755 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.972C>T (p.Asp324=) SNV Conflicting interpretations of pathogenicity 765898 12:132426264-132426264 12:131941719-131941719 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.1068G>A (p.Leu356=) SNV Conflicting interpretations of pathogenicity 762342 12:132426360-132426360 12:131941815-131941815 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.216T>C (p.Gly72=) SNV Conflicting interpretations of pathogenicity 307699 rs766451588 12:132414593-132414593 12:131930048-131930048 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 DNM1L NM_001040436.3(YARS2):c.*230A>G SNV Conflicting interpretations of pathogenicity 308443 rs371690622 12:32899908-32899908 12:32746974-32746974 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 YARS2 NM_001040436.3(YARS2):c.*230A>G SNV Conflicting interpretations of pathogenicity 308443 rs371690622 12:32899908-32899908 12:32746974-32746974 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 DNM1L NM_001040436.3(YARS2):c.*126_*127del deletion Conflicting interpretations of pathogenicity 308448 rs141873255 12:32900011-32900012 12:32747077-32747078 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 YARS2 NM_001040436.3(YARS2):c.*126_*127del deletion Conflicting interpretations of pathogenicity 308448 rs141873255 12:32900011-32900012 12:32747077-32747078 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.207C>G (p.Leu69=) SNV Conflicting interpretations of pathogenicity 307698 rs140067992 12:132414584-132414584 12:131930039-131930039 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 YARS2 NM_001040436.3(YARS2):c.870T>C (p.Val290=) SNV Conflicting interpretations of pathogenicity 308457 rs142067801 12:32906929-32906929 12:32753995-32753995 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 DNM1L NM_001040436.3(YARS2):c.*360A>G SNV Conflicting interpretations of pathogenicity 308442 rs567955032 12:32899778-32899778 12:32746844-32746844 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 YARS2 NM_001040436.3(YARS2):c.*360A>G SNV Conflicting interpretations of pathogenicity 308442 rs567955032 12:32899778-32899778 12:32746844-32746844 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 YARS2 NM_001040436.3(YARS2):c.819A>G (p.Leu273=) SNV Conflicting interpretations of pathogenicity 308458 rs149781186 12:32906980-32906980 12:32754046-32754046 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.1266G>A (p.Gly422=) SNV Conflicting interpretations of pathogenicity 307708 rs201441662 12:132428113-132428113 12:131943568-131943568 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 DNM1L NM_001040436.3(YARS2):c.*142T>C SNV Conflicting interpretations of pathogenicity 308447 rs190589666 12:32899996-32899996 12:32747062-32747062 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 YARS2 NM_001040436.3(YARS2):c.*142T>C SNV Conflicting interpretations of pathogenicity 308447 rs190589666 12:32899996-32899996 12:32747062-32747062 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 DNM1L NM_001040436.3(YARS2):c.*62G>A SNV Conflicting interpretations of pathogenicity 308449 rs527443669 12:32900076-32900076 12:32747142-32747142 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 YARS2 NM_001040436.3(YARS2):c.*62G>A SNV Conflicting interpretations of pathogenicity 308449 rs527443669 12:32900076-32900076 12:32747142-32747142 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.545-7C>T SNV Conflicting interpretations of pathogenicity 378450 rs201541270 12:132425830-132425830 12:131941285-131941285 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 YARS2 NM_001040436.3(YARS2):c.1104-16dup duplication Uncertain significance 308453 rs761612441 12:32903053-32903054 12:32750119-32750120 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 YARS2 NM_001040436.3(YARS2):c.180G>A (p.Glu60=) SNV Uncertain significance 308465 rs137922867 12:32908629-32908629 12:32755695-32755695 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.*122C>T SNV Uncertain significance 307711 rs747836180 12:132428253-132428253 12:131943708-131943708 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.*152A>T SNV Uncertain significance 307712 rs188546423 12:132428283-132428283 12:131943738-131943738 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.-244G>C SNV Uncertain significance 307696 rs886049091 12:132414024-132414024 12:131929479-131929479 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.683C>T (p.Thr228Met) SNV Uncertain significance 307703 rs755448329 12:132425975-132425975 12:131941430-131941430 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.5(PUS1):c.-453C>T SNV Uncertain significance 307692 rs551126678 12:132413815-132413815 12:131929270-131929270 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.643C>T (p.Arg215Trp) SNV Uncertain significance 307701 rs776342428 12:132425935-132425935 12:131941390-131941390 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.644G>A (p.Arg215Gln) SNV Uncertain significance 307702 rs745345996 12:132425936-132425936 12:131941391-131941391 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.725C>T (p.Thr242Met) SNV Uncertain significance 307704 rs886049092 12:132426017-132426017 12:131941472-131941472 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.-266G>C SNV Uncertain significance 307694 rs886049089 12:132414002-132414002 12:131929457-131929457 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.423C>A (p.Arg141=) SNV Uncertain significance 307700 rs371752870 12:132416839-132416839 12:131932294-131932294 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.1135G>A (p.Gly379Ser) SNV Uncertain significance 307707 rs886049093 12:132426427-132426427 12:131941882-131941882 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.*120G>A SNV Uncertain significance 307710 rs569395844 12:132428251-132428251 12:131943706-131943706 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.841G>A (p.Val281Met) SNV Uncertain significance 215050 rs776626629 12:132426133-132426133 12:131941588-131941588 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 YARS2 NM_001040436.3(YARS2):c.*24A>G SNV Uncertain significance 308450 rs368305831 12:32900114-32900114 12:32747180-32747180 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 YARS2 NM_001040436.3(YARS2):c.934G>C (p.Asp312His) SNV Uncertain significance 308454 rs190043383 12:32906865-32906865 12:32753931-32753931 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.-424C>T SNV Uncertain significance 880946 12:132413844-132413844 12:131929299-131929299 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.-151G>A SNV Uncertain significance 882302 12:132414117-132414117 12:131929572-131929572 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.-80G>A SNV Uncertain significance 882303 12:132414188-132414188 12:131929643-131929643 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.287G>A (p.Gly96Asp) SNV Uncertain significance 882304 12:132414664-132414664 12:131930119-131930119 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.365G>A (p.Arg122Gln) SNV Uncertain significance 882572 12:132416781-132416781 12:131932236-131932236 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.426C>T (p.Cys142=) SNV Uncertain significance 882573 12:132416842-132416842 12:131932297-131932297 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.638A>G (p.Lys213Arg) SNV Uncertain significance 883356 12:132425930-132425930 12:131941385-131941385 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.649G>A (p.Val217Ile) SNV Uncertain significance 883357 12:132425941-132425941 12:131941396-131941396 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.937G>A (p.Val313Met) SNV Uncertain significance 880989 12:132426229-132426229 12:131941684-131941684 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.946C>T (p.Arg316Cys) SNV Uncertain significance 880990 12:132426238-132426238 12:131941693-131941693 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.1129A>G (p.Ile377Val) SNV Uncertain significance 882352 12:132426421-132426421 12:131941876-131941876 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.*164C>T SNV Uncertain significance 882620 12:132428295-132428295 12:131943750-131943750 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.*192T>C SNV Uncertain significance 882621 12:132428323-132428323 12:131943778-131943778 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.-287G>C SNV Uncertain significance 307693 rs886049088 12:132413981-132413981 12:131929436-131929436 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.-246G>A SNV Uncertain significance 307695 rs886049090 12:132414022-132414022 12:131929477-131929477 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NC_000012.12:g.131929266G>C SNV Uncertain significance 880945 12:132413811-132413811 12:131929266-131929266 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.1065G>T (p.Pro355=) SNV Likely benign 512031 rs147555676 12:132426357-132426357 12:131941812-131941812 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 DNM1L NM_012062.5(DNM1L):c.*393A>C SNV Likely benign 308403 rs77298476 12:32896737-32896737 12:32743803-32743803 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 YARS2 NM_012062.5(DNM1L):c.*393A>C SNV Likely benign 308403 rs77298476 12:32896737-32896737 12:32743803-32743803 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 DNM1L NM_012062.5(DNM1L):c.*1156G>C SNV Likely benign 308414 rs148183516 12:32897500-32897500 12:32744566-32744566 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 YARS2 NM_012062.5(DNM1L):c.*1156G>C SNV Likely benign 308414 rs148183516 12:32897500-32897500 12:32744566-32744566 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.*119C>T SNV Likely benign 307709 rs117705819 12:132428250-132428250 12:131943705-131943705 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 DNM1L NM_012062.5(DNM1L):c.*1242G>A SNV Benign/Likely benign 308418 rs10844336 12:32897586-32897586 12:32744652-32744652 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 YARS2 NM_012062.5(DNM1L):c.*1242G>A SNV Benign/Likely benign 308418 rs10844336 12:32897586-32897586 12:32744652-32744652 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 DNM1L NM_001040436.3(YARS2):c.*643G>A SNV Benign/Likely benign 308439 rs11052214 12:32899495-32899495 12:32746561-32746561 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 YARS2 NM_001040436.3(YARS2):c.*643G>A SNV Benign/Likely benign 308439 rs11052214 12:32899495-32899495 12:32746561-32746561 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 DNM1L NM_001040436.3(YARS2):c.1356A>G (p.Gln452=) SNV Benign/Likely benign 308451 rs148729348 12:32900216-32900216 12:32747282-32747282 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 YARS2 NM_001040436.3(YARS2):c.1356A>G (p.Gln452=) SNV Benign/Likely benign 308451 rs148729348 12:32900216-32900216 12:32747282-32747282 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.456C>G (p.Ala152=) SNV Benign/Likely benign 138852 rs369170782 12:132423732-132423732 12:131939187-131939187 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.999G>C (p.Leu333=) SNV Benign/Likely benign 138853 rs150359622 12:132426291-132426291 12:131941746-131941746 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.1197C>T (p.Phe399=) SNV Benign/Likely benign 138854 rs35461276 12:132426489-132426489 12:131941944-131941944 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.621G>A (p.Thr207=) SNV Benign/Likely benign 215035 rs142044204 12:132425913-132425913 12:131941368-131941368 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.364C>A (p.Arg122=) SNV Benign/Likely benign 138858 rs142954643 12:132416780-132416780 12:131932235-131932235 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.397G>A (p.Asp133Asn) SNV Benign/Likely benign 138859 rs76655496 12:132416813-132416813 12:131932268-131932268 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.894C>T (p.Val298=) SNV Benign/Likely benign 307705 rs201908893 12:132426186-132426186 12:131941641-131941641 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 DNM1L NM_012062.5(DNM1L):c.*744A>T SNV Benign/Likely benign 308409 rs1971911 12:32897088-32897088 12:32744154-32744154 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 YARS2 NM_012062.5(DNM1L):c.*744A>T SNV Benign/Likely benign 308409 rs1971911 12:32897088-32897088 12:32744154-32744154 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 DNM1L NM_001040436.3(YARS2):c.*406C>T SNV Benign/Likely benign 308441 rs145618550 12:32899732-32899732 12:32746798-32746798 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 YARS2 NM_001040436.3(YARS2):c.*406C>T SNV Benign/Likely benign 308441 rs145618550 12:32899732-32899732 12:32746798-32746798 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 DNM1L NM_001040436.3(YARS2):c.*162A>G SNV Benign/Likely benign 308446 rs11052215 12:32899976-32899976 12:32747042-32747042 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 YARS2 NM_001040436.3(YARS2):c.*162A>G SNV Benign/Likely benign 308446 rs11052215 12:32899976-32899976 12:32747042-32747042 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 DNM1L NM_012062.5(DNM1L):c.*600C>T SNV Benign/Likely benign 308408 rs3600 12:32896944-32896944 12:32744010-32744010 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 YARS2 NM_012062.5(DNM1L):c.*600C>T SNV Benign/Likely benign 308408 rs3600 12:32896944-32896944 12:32744010-32744010 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 DNM1L NM_012062.5(DNM1L):c.*1213G>T SNV Benign/Likely benign 308416 rs11052213 12:32897557-32897557 12:32744623-32744623 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 YARS2 NM_012062.5(DNM1L):c.*1213G>T SNV Benign/Likely benign 308416 rs11052213 12:32897557-32897557 12:32744623-32744623 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 DNM1L NM_001040436.3(YARS2):c.*191T>C SNV Benign/Likely benign 308445 rs144235100 12:32899947-32899947 12:32747013-32747013 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 YARS2 NM_001040436.3(YARS2):c.*191T>C SNV Benign/Likely benign 308445 rs144235100 12:32899947-32899947 12:32747013-32747013 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 DNM1L NM_012062.5(DNM1L):c.*271C>G SNV Benign/Likely benign 308400 rs1020670 12:32896615-32896615 12:32743681-32743681 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 YARS2 NM_012062.5(DNM1L):c.*271C>G SNV Benign/Likely benign 308400 rs1020670 12:32896615-32896615 12:32743681-32743681 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 DNM1L NM_012062.5(DNM1L):c.*1415T>C SNV Benign/Likely benign 308425 rs114366772 12:32897759-32897759 12:32744825-32744825 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 YARS2 NM_012062.5(DNM1L):c.*1415T>C SNV Benign/Likely benign 308425 rs114366772 12:32897759-32897759 12:32744825-32744825 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 DNM1L NM_001040436.3(YARS2):c.*209G>C SNV Benign/Likely benign 308444 rs10844337 12:32899929-32899929 12:32746995-32746995 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 YARS2 NM_001040436.3(YARS2):c.*209G>C SNV Benign/Likely benign 308444 rs10844337 12:32899929-32899929 12:32746995-32746995 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.1020C>T (p.Phe340=) SNV Benign/Likely benign 307706 rs202059921 12:132426312-132426312 12:131941767-131941767 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 YARS2 NM_001040436.3(YARS2):c.572G>T (p.Gly191Val) SNV Benign/Likely benign 308460 rs11539445 12:32908237-32908237 12:32755303-32755303 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 DNM1L NM_012062.5(DNM1L):c.*21G>C SNV Benign/Likely benign 308394 rs1059422 12:32896365-32896365 12:32743431-32743431 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 YARS2 NM_012062.5(DNM1L):c.*21G>C SNV Benign/Likely benign 308394 rs1059422 12:32896365-32896365 12:32743431-32743431 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 DNM1L NM_012062.5(DNM1L):c.*22A>T SNV Benign/Likely benign 308396 rs3200103 12:32896366-32896366 12:32743432-32743432 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 YARS2 NM_012062.5(DNM1L):c.*22A>T SNV Benign/Likely benign 308396 rs3200103 12:32896366-32896366 12:32743432-32743432 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.-182C>T SNV Benign 307697 rs61942438 12:132414086-132414086 12:131929541-131929541 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.*16C>T SNV Benign 212780 rs116003934 12:132428147-132428147 12:131943602-131943602 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.345C>T (p.Asp115=) SNV Benign 138857 rs145798848 12:132416761-132416761 12:131932216-131932216 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.*208T>C SNV Benign 882622 12:132428339-132428339 12:131943794-131943794 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.*253G>C SNV Benign 883396 12:132428384-132428384 12:131943839-131943839 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 DNM1L NM_012062.5(DNM1L):c.*1093T>C SNV Benign 308411 rs1971910 12:32897437-32897437 12:32744503-32744503 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 YARS2 NM_012062.5(DNM1L):c.*1093T>C SNV Benign 308411 rs1971910 12:32897437-32897437 12:32744503-32744503 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 NM_025215.6(PUS1):c.22C>T (p.Leu8=) SNV Benign 378449 rs139227671 12:132414289-132414289 12:131929744-131929744 MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 YARS2 NM_001040436.3(YARS2):c.137G>A (p.Gly46Asp) SNV Pathogenic 102433 rs587777213 12:32908672-32908672 12:32755738-32755738 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.572G>A (p.Gly191Asp) SNV Pathogenic 102434 rs11539445 12:32908237-32908237 12:32755303-32755303 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.1078C>T (p.Arg360Ter) SNV Pathogenic 102435 rs587777214 12:32903678-32903678 12:32750744-32750744 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.1303A>G (p.Ser435Gly) SNV Pathogenic 102436 rs587777215 12:32900269-32900269 12:32747335-32747335 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.359dup (p.Asp121fs) duplication Pathogenic 209208 rs797045077 12:32908449-32908450 12:32755515-32755516 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu) SNV Pathogenic/Likely pathogenic 1056 rs267607180 12:32908653-32908653 12:32755719-32755719 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.751A>G (p.Ile251Val) SNV Likely pathogenic 209209 rs372098364 12:32908058-32908058 12:32755124-32755124 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.202G>A (p.Gly68Ser) SNV Conflicting interpretations of pathogenicity 215418 rs150304121 12:32908607-32908607 12:32755673-32755673 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.104C>A (p.Ala35Asp) SNV Conflicting interpretations of pathogenicity 215417 rs149447502 12:32908705-32908705 12:32755771-32755771 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.456G>A (p.Ala152=) SNV Conflicting interpretations of pathogenicity 137934 rs201940521 12:32908353-32908353 12:32755419-32755419 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.810C>T (p.Thr270=) SNV Conflicting interpretations of pathogenicity 725129 12:32906989-32906989 12:32754055-32754055 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 DNM1L NM_001040436.3(YARS2):c.*230A>G SNV Conflicting interpretations of pathogenicity 308443 rs371690622 12:32899908-32899908 12:32746974-32746974 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.*230A>G SNV Conflicting interpretations of pathogenicity 308443 rs371690622 12:32899908-32899908 12:32746974-32746974 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.626A>G (p.Lys209Arg) SNV Conflicting interpretations of pathogenicity 308459 rs541554381 12:32908183-32908183 12:32755249-32755249 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.870T>C (p.Val290=) SNV Conflicting interpretations of pathogenicity 308457 rs142067801 12:32906929-32906929 12:32753995-32753995 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 DNM1L NM_001040436.3(YARS2):c.*360A>G SNV Conflicting interpretations of pathogenicity 308442 rs567955032 12:32899778-32899778 12:32746844-32746844 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.*360A>G SNV Conflicting interpretations of pathogenicity 308442 rs567955032 12:32899778-32899778 12:32746844-32746844 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.930G>A (p.Pro310=) SNV Conflicting interpretations of pathogenicity 308455 rs147551647 12:32906869-32906869 12:32753935-32753935 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.819A>G (p.Leu273=) SNV Conflicting interpretations of pathogenicity 308458 rs149781186 12:32906980-32906980 12:32754046-32754046 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.535A>C (p.Lys179Gln) SNV Conflicting interpretations of pathogenicity 308461 rs147630375 12:32908274-32908274 12:32755340-32755340 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 DNM1L NM_001040436.3(YARS2):c.*142T>C SNV Conflicting interpretations of pathogenicity 308447 rs190589666 12:32899996-32899996 12:32747062-32747062 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.*142T>C SNV Conflicting interpretations of pathogenicity 308447 rs190589666 12:32899996-32899996 12:32747062-32747062 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 DNM1L NM_001040436.3(YARS2):c.*62G>A SNV Conflicting interpretations of pathogenicity 308449 rs527443669 12:32900076-32900076 12:32747142-32747142 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.*62G>A SNV Conflicting interpretations of pathogenicity 308449 rs527443669 12:32900076-32900076 12:32747142-32747142 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.477C>T (p.Phe159=) SNV Conflicting interpretations of pathogenicity 308462 rs774325742 12:32908332-32908332 12:32755398-32755398 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.327C>G (p.Ile109Met) SNV Uncertain significance 308463 rs886049304 12:32908482-32908482 12:32755548-32755548 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.180G>A (p.Glu60=) SNV Uncertain significance 308465 rs137922867 12:32908629-32908629 12:32755695-32755695 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.30C>T (p.Ser10=) SNV Uncertain significance 308466 rs886049305 12:32908779-32908779 12:32755845-32755845 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.234T>C (p.Cys78=) SNV Uncertain significance 308464 rs565102282 12:32908575-32908575 12:32755641-32755641 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.*24A>G SNV Uncertain significance 308450 rs368305831 12:32900114-32900114 12:32747180-32747180 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.934G>C (p.Asp312His) SNV Uncertain significance 308454 rs190043383 12:32906865-32906865 12:32753931-32753931 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.1241G>A (p.Arg414His) SNV Uncertain significance 308452 rs762786998 12:32902904-32902904 12:32749970-32749970 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.917T>C (p.Phe306Ser) SNV Uncertain significance 308456 rs376934259 12:32906882-32906882 12:32753948-32753948 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.*595G>A SNV Uncertain significance 883194 12:32899543-32899543 12:32746609-32746609 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.*478G>A SNV Uncertain significance 883195 12:32899660-32899660 12:32746726-32746726 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.*627A>T SNV Uncertain significance 308440 rs886049303 12:32899511-32899511 12:32746577-32746577 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.*377G>A SNV Uncertain significance 883197 12:32899761-32899761 12:32746827-32746827 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NC_000012.12:g.32755905T>C SNV Uncertain significance 883252 12:32908839-32908839 12:32755905-32755905 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NC_000012.12:g.32755946G>C SNV Uncertain significance 883253 12:32908880-32908880 12:32755946-32755946 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.*469C>T SNV Likely benign 883196 12:32899669-32899669 12:32746735-32746735 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.1026G>A (p.Arg342=) SNV Benign/Likely benign 137935 rs35339227 12:32903730-32903730 12:32750796-32750796 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.291C>T (p.Gly97=) SNV Benign/Likely benign 137937 rs11539444 12:32908518-32908518 12:32755584-32755584 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 DNM1L NM_001040436.3(YARS2):c.*191T>C SNV Benign/Likely benign 308445 rs144235100 12:32899947-32899947 12:32747013-32747013 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.*191T>C SNV Benign/Likely benign 308445 rs144235100 12:32899947-32899947 12:32747013-32747013 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 DNM1L NM_001040436.3(YARS2):c.*406C>T SNV Benign/Likely benign 308441 rs145618550 12:32899732-32899732 12:32746798-32746798 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.*406C>T SNV Benign/Likely benign 308441 rs145618550 12:32899732-32899732 12:32746798-32746798 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 DNM1L NM_001040436.3(YARS2):c.*162A>G SNV Benign/Likely benign 308446 rs11052215 12:32899976-32899976 12:32747042-32747042 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.*162A>G SNV Benign/Likely benign 308446 rs11052215 12:32899976-32899976 12:32747042-32747042 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 DNM1L NM_001040436.3(YARS2):c.*209G>C SNV Benign/Likely benign 308444 rs10844337 12:32899929-32899929 12:32746995-32746995 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.*209G>C SNV Benign/Likely benign 308444 rs10844337 12:32899929-32899929 12:32746995-32746995 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 DNM1L NM_001040436.3(YARS2):c.*643G>A SNV Benign/Likely benign 308439 rs11052214 12:32899495-32899495 12:32746561-32746561 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.*643G>A SNV Benign/Likely benign 308439 rs11052214 12:32899495-32899495 12:32746561-32746561 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.572G>T (p.Gly191Val) SNV Benign/Likely benign 308460 rs11539445 12:32908237-32908237 12:32755303-32755303 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 DNM1L NM_001040436.3(YARS2):c.1356A>G (p.Gln452=) SNV Benign/Likely benign 308451 rs148729348 12:32900216-32900216 12:32747282-32747282 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YARS2 NM_001040436.3(YARS2):c.1356A>G (p.Gln452=) SNV Benign/Likely benign 308451 rs148729348 12:32900216-32900216 12:32747282-32747282 MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 ATP6 NC_012920.1:m.8969G>A SNV Pathogenic 191364 rs794726857 MT:8969-8969 MT:8969-8969 MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 MSTO1 NM_018116.3(MSTO1):c.966+1G>A SNV Pathogenic 438834 rs771965165 1:155582362-155582362 1:155612571-155612571 MYP149 Myopathy, Mitochondrial, and Ataxia MSTO1 NM_001350776.1(MSTO1):c.-266G>A SNV Pathogenic 438835 rs762798018 1:155580061-155580061 1:155610270-155610270 MYP149 Myopathy, Mitochondrial, and Ataxia MSTO1 NM_018116.3(MSTO1):c.1033C>T (p.Arg345Cys) SNV Pathogenic 438831 rs749922789 1:155582701-155582701 1:155612910-155612910 MYP149 Myopathy, Mitochondrial, and Ataxia MSTO1 NM_018116.3(MSTO1):c.1128C>A (p.Phe376Leu) SNV Pathogenic 438832 rs1553295536 1:155582869-155582869 1:155613078-155613078 MYP149 Myopathy, Mitochondrial, and Ataxia MSTO1 NM_018116.3(MSTO1):c.971C>T (p.Thr324Ile) SNV Likely pathogenic 438833 rs622288 1:155582639-155582639 1:155612848-155612848 MYP149 Myopathy, Mitochondrial, and Ataxia MSTO1 NM_018116.3(MSTO1):c.1259del (p.Gly420fs) deletion Likely pathogenic 504109 rs1248439783 1:155582997-155582997 1:155613206-155613206 MYP149 Myopathy, Mitochondrial, and Ataxia MSTO1 NM_018116.3(MSTO1):c.676C>T (p.Gln226Ter) SNV Likely pathogenic 522862 rs1208636573 1:155581889-155581889 1:155612098-155612098 MYP149 Myopathy, Mitochondrial, and Ataxia MSTO1 NM_018116.3(MSTO1):c.836G>A (p.Arg279His) SNV Uncertain significance 590277 rs563943670 1:155582231-155582231 1:155612440-155612440 MYP149 Myopathy, Mitochondrial, and Ataxia MSTO1 NM_018116.4(MSTO1):c.571C>T (p.Arg191Trp) SNV Uncertain significance 830044 1:155581784-155581784 1:155611993-155611993 MYP149 Myopathy, Mitochondrial, and Ataxia GFER NM_005262.3(GFER):c.586C>T (p.Arg196Cys) SNV Pathogenic 426097 rs370475970 16:2035997-2035997 16:1985996-1985996 MYP017 Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay GFER NM_005262.3(GFER):c.217del (p.Ala73fs) deletion Pathogenic 559178 rs1555486560 16:2034434-2034434 16:1984433-1984433 MYP017 Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay GFER NM_005262.3(GFER):c.581G>A (p.Arg194His) SNV Pathogenic 8691 rs121908192 16:2035992-2035992 16:1985991-1985991 MYP017 Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay GFER NM_005262.3(GFER):c.219del (p.Cys74fs) deletion Likely pathogenic 666363 16:2034437-2034437 16:1984436-1984436 MYP017 Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay GFER NM_005262.3(GFER):c.259-25_259-24del deletion Likely pathogenic 666364 16:2034722-2034723 16:1984721-1984722 MYP017 Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay GRHPR NM_012203.2(GRHPR):c.103del (p.Asp35fs) deletion Pathogenic 5636 rs80356708 9:37424859-37424859 9:37424862-37424862 NPH009 Nephrolithiasis AGXT NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) SNV Pathogenic 5646 rs121908525 2:241814576-241814576 2:240875159-240875159 NPH009 Nephrolithiasis BRCA2 NM_000059.3(BRCA2):c.4936_4939del (p.Glu1646fs) deletion Pathogenic 37935 rs80359473 13:32913425-32913428 13:32339288-32339291 NPH009 Nephrolithiasis AGXT NM_000030.3(AGXT):c.481G>A (p.Gly161Ser) SNV Pathogenic 204105 rs180177227 2:241810823-241810823 2:240871406-240871406 NPH009 Nephrolithiasis SLC34A1 NM_003052.5(SLC34A1):c.644+1G>A SNV Pathogenic/Likely pathogenic 234926 rs201304511 5:176814875-176814875 5:177387874-177387874 NPH009 Nephrolithiasis SLC12A1 NM_000338.3(SLC12A1):c.1163del (p.Phe388fs) deletion Pathogenic/Likely pathogenic 265999 rs779588655 15:48527143-48527143 15:48234946-48234946 NPH009 Nephrolithiasis CLDN16 NM_006580.3(CLDN16):c.695T>G (p.Phe232Cys) SNV Pathogenic/Likely pathogenic 5931 rs104893726 3:190126205-190126205 3:190408416-190408416 NPH009 Nephrolithiasis ATP6V1B1 NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro) SNV Pathogenic/Likely pathogenic 12228 rs121964880 2:71185243-71185243 2:70958113-70958113 NPH009 Nephrolithiasis AGXT NM_000030.3(AGXT):c.121G>A (p.Gly41Arg) SNV Pathogenic/Likely pathogenic 5644 rs121908523 2:241808403-241808403 2:240868986-240868986 NPH009 Nephrolithiasis CLDN19 NM_148960.3(CLDN19):c.535G>A (p.Gly179Ser) SNV Likely pathogenic 548672 rs145591298 1:43201640-43201640 1:42735969-42735969 NPH009 Nephrolithiasis AGXT NM_000030.3(AGXT):c.1079G>C (p.Arg360Pro) SNV Likely pathogenic 548671 rs180177161 2:241818138-241818138 2:240878721-240878721 NPH009 Nephrolithiasis SLC3A1 NM_000341.4(SLC3A1):c.592del (p.Ala198fs) deletion Likely pathogenic 548674 rs778000327 2:44508016-44508016 2:44280877-44280877 NPH009 Nephrolithiasis SLC34A1 NM_003052.5(SLC34A1):c.1204G>C (p.Gly402Arg) SNV Likely pathogenic 548678 rs376131751 5:176823763-176823763 5:177396762-177396762 NPH009 Nephrolithiasis SLC34A1 NM_003052.5(SLC34A1):c.1724C>T (p.Thr575Ile) SNV Likely pathogenic 548679 rs201331677 5:176825091-176825091 5:177398090-177398090 NPH009 Nephrolithiasis GRHPR NM_012203.2(GRHPR):c.404+5G>A SNV Likely pathogenic 548673 rs757796926 9:37426656-37426656 9:37426659-37426659 NPH009 Nephrolithiasis SLC12A1 NM_000338.3(SLC12A1):c.769G>A (p.Gly257Ser) SNV Likely pathogenic 548675 rs896545456 15:48521430-48521430 15:48229233-48229233 NPH009 Nephrolithiasis SLC12A1 NM_000338.3(SLC12A1):c.1424G>A (p.Cys475Tyr) SNV Likely pathogenic 548676 rs1555466999 15:48537073-48537073 15:48244876-48244876 NPH009 Nephrolithiasis COX3 NC_012920.1:m.9355A>T SNV Uncertain significance 523307 rs1556423663 MT:9355-9355 MT:9355-9355 NPH009 Nephrolithiasis SLC9A3R1 NM_004252.5(SLC9A3R1):c.673G>A (p.Glu225Lys) SNV Likely benign 5272 rs119486097 17:72759575-72759575 17:74763436-74763436 NPH009 Nephrolithiasis C19orf12 NM_001256047.1(C19orf12):c.232_233del (p.Met78fs) deletion Pathogenic 636274 19:30193812-30193813 19:29702905-29702906 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.194_204del (p.Met65fs) deletion Pathogenic 636275 19:30193841-30193851 19:29702934-29702944 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.161-2del deletion Pathogenic 434550 rs1352744778 19:30193886-30193886 19:29702979-29702979 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.161G>A (p.Gly54Glu) SNV Pathogenic 617481 rs752450983 19:30193884-30193884 19:29702977-29702977 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.-10G>C SNV Pathogenic 617482 rs1424291552 19:30199330-30199330 19:29708423-29708423 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.171_181del (p.Gly58fs) deletion Pathogenic 31155 rs515726204 19:30193864-30193874 19:29702957-29702967 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.362T>A (p.Leu121Gln) SNV Pathogenic 31626 rs387907173 19:30193683-30193683 19:29702776-29702776 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.225_226delinsTGGAGGAACAGT (p.Gln75fs) indel Pathogenic 210552 rs797045423 19:30193819-30193820 19:29702912-29702913 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.215C>T (p.Pro72Leu) SNV Pathogenic 225875 rs201987973 19:30193830-30193830 19:29702923-29702923 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001031726.3(C19orf12):c.197_199del deletion Pathogenic 88866 rs398122409 19:30193879-30193881 19:29702972-29702974 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.-2C>T SNV Pathogenic/Likely pathogenic 31156 rs397514477 19:30199322-30199322 19:29708415-29708415 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.172G>A (p.Gly58Arg) SNV Pathogenic/Likely pathogenic 31157 rs515726205 19:30193873-30193873 19:29702966-29702966 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.154G>C (p.Ala52Pro) SNV Likely pathogenic 88865 rs376103979 19:30199167-30199167 19:29708260-29708260 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.161G>T (p.Gly54Val) SNV Likely pathogenic 402183 rs752450983 19:30193884-30193884 19:29702977-29702977 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.205C>T (p.Gln69Ter) SNV Likely pathogenic 425168 rs1064797235 19:30193840-30193840 19:29702933-29702933 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.303G>A (p.Trp101Ter) SNV Likely pathogenic 434549 rs1555714808 19:30193742-30193742 19:29702835-29702835 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.371dup (p.Met124fs) duplication Likely pathogenic 634443 rs1568326754 19:30193673-30193674 19:29702766-29702767 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.177G>A (p.Gly59=) SNV Conflicting interpretations of pathogenicity 506451 rs768063881 19:30193868-30193868 19:29702961-29702961 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.391A>G (p.Lys131Glu) SNV Conflicting interpretations of pathogenicity 31158 rs146170087 19:30193654-30193654 19:29702747-29702747 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.-11+616C>T SNV Conflicting interpretations of pathogenicity 387761 rs948285503 19:30205854-30205854 19:29714947-29714947 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*554G>A SNV Uncertain significance 888944 19:30193065-30193065 19:29702158-29702158 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*281C>T SNV Uncertain significance 890640 19:30193338-30193338 19:29702431-29702431 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*5C>T SNV Uncertain significance 890641 19:30193614-30193614 19:29702707-29702707 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.371T>C (p.Met124Thr) SNV Uncertain significance 891191 19:30193674-30193674 19:29702767-29702767 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.113T>C (p.Met38Thr) SNV Uncertain significance 891192 19:30199208-30199208 19:29708301-29708301 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.-1G>A SNV Uncertain significance 892392 19:30199321-30199321 19:29708414-29708414 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*1362G>T SNV Uncertain significance 890577 19:30192257-30192257 19:29701350-29701350 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.313G>A (p.Val105Met) SNV Uncertain significance 286392 rs146492790 19:30193732-30193732 19:29702825-29702825 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*3520C>T SNV Uncertain significance 328656 rs886054311 19:30190099-30190099 19:29699192-29699192 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*3337G>A SNV Uncertain significance 328664 rs868247639 19:30190282-30190282 19:29699375-29699375 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*3294C>G SNV Uncertain significance 328667 rs886054313 19:30190325-30190325 19:29699418-29699418 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*2956G>T SNV Uncertain significance 328675 rs113943151 19:30190663-30190663 19:29699756-29699756 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*1488T>G SNV Uncertain significance 328698 rs777128142 19:30192131-30192131 19:29701224-29701224 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*1178C>A SNV Uncertain significance 328702 rs886054317 19:30192441-30192441 19:29701534-29701534 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.46T>C (p.Ser16Pro) SNV Uncertain significance 617504 rs1568332606 19:30199275-30199275 19:29708368-29708368 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*2732G>A SNV Uncertain significance 888791 19:30190887-30190887 19:29699980-29699980 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.241C>A (p.Pro81Thr) SNV Uncertain significance 873517 19:30193804-30193804 19:29702897-29702897 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*3697C>T SNV Uncertain significance 888719 19:30189922-30189922 19:29699015-29699015 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*3518C>T SNV Uncertain significance 888720 19:30190101-30190101 19:29699194-29699194 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*3400T>A SNV Uncertain significance 890421 19:30190219-30190219 19:29699312-29699312 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*3357G>A SNV Uncertain significance 890422 19:30190262-30190262 19:29699355-29699355 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*3352C>T SNV Uncertain significance 890423 19:30190267-30190267 19:29699360-29699360 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*3314C>T SNV Uncertain significance 890993 19:30190305-30190305 19:29699398-29699398 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*3300C>T SNV Uncertain significance 890994 19:30190319-30190319 19:29699412-29699412 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*3272C>T SNV Uncertain significance 890995 19:30190347-30190347 19:29699440-29699440 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*3091A>T SNV Uncertain significance 892218 19:30190528-30190528 19:29699621-29699621 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*2671A>C SNV Uncertain significance 888793 19:30190948-30190948 19:29700041-29700041 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*2384C>T SNV Uncertain significance 890499 19:30191235-30191235 19:29700328-29700328 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*2328G>A SNV Uncertain significance 890500 19:30191291-30191291 19:29700384-29700384 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*2208G>A SNV Uncertain significance 890501 19:30191411-30191411 19:29700504-29700504 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*2207C>T SNV Uncertain significance 891058 19:30191412-30191412 19:29700505-29700505 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*2058T>C SNV Uncertain significance 891060 19:30191561-30191561 19:29700654-29700654 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*1944A>G SNV Uncertain significance 891061 19:30191675-30191675 19:29700768-29700768 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*1940T>C SNV Uncertain significance 891062 19:30191679-30191679 19:29700772-29700772 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*1897A>T SNV Uncertain significance 891063 19:30191722-30191722 19:29700815-29700815 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*1870G>C SNV Uncertain significance 892279 19:30191749-30191749 19:29700842-29700842 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*1840G>T SNV Uncertain significance 892281 19:30191779-30191779 19:29700872-29700872 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*1827G>C SNV Uncertain significance 892282 19:30191792-30191792 19:29700885-29700885 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*1648C>T SNV Uncertain significance 888880 19:30191971-30191971 19:29701064-29701064 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*1226C>T SNV Uncertain significance 890579 19:30192393-30192393 19:29701486-29701486 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*1203A>G SNV Uncertain significance 890580 19:30192416-30192416 19:29701509-29701509 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*1111A>G SNV Uncertain significance 891138 19:30192508-30192508 19:29701601-29701601 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*500G>A SNV Uncertain significance 328719 rs113415246 19:30193119-30193119 19:29702212-29702212 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*471G>A SNV Uncertain significance 328720 rs112388598 19:30193148-30193148 19:29702241-29702241 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.80A>T (p.His27Leu) SNV Uncertain significance 328730 rs886054322 19:30199241-30199241 19:29708334-29708334 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.-11+569C>T SNV Uncertain significance 328736 rs886054325 19:30205901-30205901 19:29714994-29714994 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.-11+558T>C SNV Uncertain significance 328738 rs886054326 19:30205912-30205912 19:29715005-29715005 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*1671C>T SNV Uncertain significance 328693 rs751700304 19:30191948-30191948 19:29701041-29701041 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*1037A>G SNV Uncertain significance 328709 rs886054318 19:30192582-30192582 19:29701675-29701675 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*718G>T SNV Uncertain significance 328717 rs770252476 19:30192901-30192901 19:29701994-29701994 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.-11+601G>A SNV Uncertain significance 328734 rs886054324 19:30205869-30205869 19:29714962-29714962 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*3745G>A SNV Uncertain significance 328653 rs140771696 19:30189874-30189874 19:29698967-29698967 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*3026G>C SNV Uncertain significance 328673 rs377009197 19:30190593-30190593 19:29699686-29699686 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*3417C>T SNV Uncertain significance 328660 rs138368723 19:30190202-30190202 19:29699295-29699295 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*3288T>G SNV Uncertain significance 328668 rs778264130 19:30190331-30190331 19:29699424-29699424 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*2621C>T SNV Uncertain significance 328681 rs183432713 19:30190998-30190998 19:29700091-29700091 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*2449G>A SNV Uncertain significance 328683 rs746421147 19:30191170-30191170 19:29700263-29700263 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*2373G>T SNV Uncertain significance 328684 rs76746960 19:30191246-30191246 19:29700339-29700339 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*2270T>G SNV Uncertain significance 328686 rs748603317 19:30191349-30191349 19:29700442-29700442 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*1595G>A SNV Uncertain significance 328694 rs537395968 19:30192024-30192024 19:29701117-29701117 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*3217T>C SNV Uncertain significance 328671 rs769521665 19:30190402-30190402 19:29699495-29699495 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*1453C>T SNV Uncertain significance 328699 rs886054316 19:30192166-30192166 19:29701259-29701259 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*814G>A SNV Uncertain significance 328715 rs112965744 19:30192805-30192805 19:29701898-29701898 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*791G>A SNV Uncertain significance 328716 rs111648332 19:30192828-30192828 19:29701921-29701921 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*466G>A SNV Uncertain significance 328721 rs886054319 19:30193153-30193153 19:29702246-29702246 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*437C>T SNV Uncertain significance 328722 rs1048104 19:30193182-30193182 19:29702275-29702275 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*308C>T SNV Uncertain significance 328724 rs886054320 19:30193311-30193311 19:29702404-29702404 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*137G>A SNV Uncertain significance 328725 rs746454120 19:30193482-30193482 19:29702575-29702575 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.-10-12T>A SNV Uncertain significance 328732 rs886054323 19:30199342-30199342 19:29708435-29708435 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*1158C>T SNV Uncertain significance 328705 rs533617895 19:30192461-30192461 19:29701554-29701554 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*3672C>T SNV Uncertain significance 328654 rs886054310 19:30189947-30189947 19:29699040-29699040 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*3492G>T SNV Uncertain significance 328658 rs886054312 19:30190127-30190127 19:29699220-29699220 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*3402dup duplication Uncertain significance 328661 rs139713991 19:30190216-30190217 19:29699309-29699310 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*3242C>T SNV Uncertain significance 328669 rs886054314 19:30190377-30190377 19:29699470-29699470 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*2691A>G SNV Uncertain significance 328679 rs113017735 19:30190928-30190928 19:29700021-29700021 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*2222A>C SNV Uncertain significance 328687 rs535994327 19:30191397-30191397 19:29700490-29700490 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*1880T>C SNV Uncertain significance 328690 rs112656442 19:30191739-30191739 19:29700832-29700832 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*1592A>G SNV Uncertain significance 328695 rs113641934 19:30192027-30192027 19:29701120-29701120 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*1159C>T SNV Uncertain significance 328704 rs150649006 19:30192460-30192460 19:29701553-29701553 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*541G>A SNV Uncertain significance 328718 rs112752558 19:30193078-30193078 19:29702171-29702171 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*136C>T SNV Uncertain significance 328726 rs886054321 19:30193483-30193483 19:29702576-29702576 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*20G>A SNV Uncertain significance 328729 rs770407188 19:30193599-30193599 19:29702692-29702692 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.68C>T (p.Ala23Val) SNV Uncertain significance 328731 rs544395324 19:30199253-30199253 19:29708346-29708346 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.-11+562G>T SNV Uncertain significance 328737 rs767622377 19:30205908-30205908 19:29715001-29715001 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*3833T>A SNV Likely benign 369262 rs112945856 19:30189786-30189786 19:29698879-29698879 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.413A>G (p.Gln138Arg) SNV Likely benign 380881 rs73023451 19:30193632-30193632 19:29702725-29702725 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*1021dup duplication Likely benign 328710 rs758272383 19:30192597-30192598 19:29701690-29701691 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*1536T>C SNV Likely benign 328697 rs182215624 19:30192083-30192083 19:29701176-29701176 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*2526del deletion Likely benign 328682 rs111753946 19:30191093-30191093 19:29700186-29700186 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*2310C>T SNV Likely benign 328685 rs370293548 19:30191309-30191309 19:29700402-29700402 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*3304T>C SNV Likely benign 328666 rs547761506 19:30190315-30190315 19:29699408-29699408 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*1826G>T SNV Likely benign 328691 rs192407663 19:30191793-30191793 19:29700886-29700886 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.-11+587G>C SNV Likely benign 328735 rs367660476 19:30205883-30205883 19:29714976-29714976 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*1557T>C SNV Likely benign 328696 rs116963085 19:30192062-30192062 19:29701155-29701155 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*1020del deletion Likely benign 328711 rs200081218 19:30192599-30192599 19:29701692-29701692 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*3399_*3400insA insertion Likely benign 328662 rs113192583 19:30190219-30190220 19:29699312-29699313 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*1413G>A SNV Likely benign 890576 19:30192206-30192206 19:29701299-29701299 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*1854G>A SNV Likely benign 892280 19:30191765-30191765 19:29700858-29700858 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*2784C>G SNV Likely benign 892219 19:30190835-30190835 19:29699928-29699928 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*2692C>T SNV Likely benign 888792 19:30190927-30190927 19:29700020-29700020 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.216G>A (p.Pro72=) SNV Benign/Likely benign 238220 rs202054484 19:30193829-30193829 19:29702922-29702922 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.69G>A (p.Ala23=) SNV Benign/Likely benign 238219 rs201118405 19:30199252-30199252 19:29708345-29708345 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.-11+619T>C SNV Benign/Likely benign 328733 rs186970109 19:30205851-30205851 19:29714944-29714944 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*1114C>G SNV Benign 328708 rs1048123 19:30192505-30192505 19:29701598-29701598 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*1020C>A SNV Benign 328712 rs1140197 19:30192599-30192599 19:29701692-29701692 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*2662C>T SNV Benign 328680 rs78094750 19:30190957-30190957 19:29700050-29700050 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*3096_*3097insG insertion Benign 328672 rs35973369 19:30190522-30190523 19:29699615-29699616 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*2100G>T SNV Benign 328689 rs74854677 19:30191519-30191519 19:29700612-29700612 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*1145G>A SNV Benign 328706 rs62105840 19:30192474-30192474 19:29701567-29701567 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*881G>A SNV Benign 328714 rs3926 19:30192738-30192738 19:29701831-29701831 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*84C>T SNV Benign 328727 rs117867574 19:30193535-30193535 19:29702628-29702628 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*47T>C SNV Benign 328728 rs111959875 19:30193572-30193572 19:29702665-29702665 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*3819T>G SNV Benign 328652 rs11879584 19:30189800-30189800 19:29698893-29698893 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*944A>G SNV Benign 328713 rs549030034 19:30192675-30192675 19:29701768-29701768 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*3571C>T SNV Benign 328655 rs74868577 19:30190048-30190048 19:29699141-29699141 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*3518C>A SNV Benign 328657 rs62105838 19:30190101-30190101 19:29699194-29699194 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*3463G>A SNV Benign 328659 rs150123154 19:30190156-30190156 19:29699249-29699249 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*3227_*3229del deletion Benign 328670 rs60814860 19:30190390-30190392 19:29699483-29699485 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*2893G>A SNV Benign 328676 rs571030466 19:30190726-30190726 19:29699819-29699819 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*437C>G SNV Benign 328723 rs1048104 19:30193182-30193182 19:29702275-29702275 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*1219C>T SNV Benign 328701 rs1129852 19:30192400-30192400 19:29701493-29701493 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*2790dup duplication Benign 328677 rs35730141 19:30190828-30190829 19:29699921-29699922 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*1361C>T SNV Benign 890578 19:30192258-30192258 19:29701351-29701351 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*1170C>A SNV Benign 328703 rs75930446 19:30192449-30192449 19:29701542-29701542 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*1144C>T SNV Benign 328707 rs9566 19:30192475-30192475 19:29701568-29701568 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*1362G>A SNV Benign 328700 rs113343769 19:30192257-30192257 19:29701350-29701350 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*2763A>G SNV Benign 328678 rs113735809 19:30190856-30190856 19:29699949-29699949 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*2186C>T SNV Benign 328688 rs73548135 19:30191433-30191433 19:29700526-29700526 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*1686T>C SNV Benign 328692 rs7255131 19:30191933-30191933 19:29701026-29701026 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*2961T>C SNV Benign 328674 rs10417597 19:30190658-30190658 19:29699751-29699751 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*3336C>T SNV Benign 328665 rs10414583 19:30190283-30190283 19:29699376-29699376 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.*3372C>T SNV Benign 328663 rs117537955 19:30190247-30190247 19:29699340-29699340 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.324C>T (p.Thr108=) SNV Benign 128537 rs10424582 19:30193721-30193721 19:29702814-29702814 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_001256047.1(C19orf12):c.392A>C (p.Lys131Thr) SNV Benign 128538 rs79915936 19:30193653-30193653 19:29702746-29702746 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*2778C>T SNV Benign 888790 19:30190841-30190841 19:29699934-29699934 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*2117G>A SNV Benign 891059 19:30191502-30191502 19:29700595-29700595 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*1666G>A SNV Benign 888879 19:30191953-30191953 19:29701046-29701046 NRD014 Neurodegeneration with Brain Iron Accumulation 4 C19orf12 NM_031448.6(C19orf12):c.*579C>T SNV Benign 888943 19:30193040-30193040 19:29702133-29702133 NRD014 Neurodegeneration with Brain Iron Accumulation 4 WARS2 NM_015836.3(WARS2):c.325del (p.Ser109fs) deletion Pathogenic 440914 rs1253426801 1:119618996-119618996 1:119076373-119076373 NRD036 Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures WARS2 NM_015836.3(WARS2):c.134G>T (p.Gly45Val) SNV Pathogenic 440919 rs1553241795 1:119619187-119619187 1:119076564-119076564 NRD036 Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures WARS2 NM_015836.3(WARS2):c.532G>C (p.Val178Leu) SNV Pathogenic 440920 rs912133959 1:119576820-119576820 1:119034197-119034197 NRD036 Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures WARS2 NM_015836.3(WARS2):c.149G>A (p.Gly50Asp) SNV Likely pathogenic 807717 1:119619172-119619172 1:119076549-119076549 NRD036 Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures WARS2 NM_015836.3(WARS2):c.37T>G (p.Trp13Gly) SNV Conflicting interpretations of pathogenicity 440915 rs139548132 1:119683231-119683231 1:119140608-119140608 NRD036 Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures WARS2 NM_201263.2(WARS2):c.295_297CTT[1] (p.Leu100del) short repeat Uncertain significance 440916 rs772867219 1:119619021-119619023 1:119076398-119076400 NRD036 Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures WARS2 NM_015836.3(WARS2):c.938A>T (p.Lys313Met) SNV Uncertain significance 440917 rs145867327 1:119575679-119575679 1:119033056-119033056 NRD036 Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures WARS2 NM_201263.2(WARS2):c.*163del deletion Uncertain significance 440918 rs746478253 1:119575820-119575820 1:119033197-119033197 NRD036 Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures WARS2 NM_015836.3(WARS2):c.317C>T (p.Pro106Leu) SNV Uncertain significance 592126 rs753188889 1:119619004-119619004 1:119076381-119076381 NRD036 Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures TRPV4 NM_021625.4(TRPV4):c.1781G>A (p.Arg594His) SNV Pathogenic 4994 rs77975504 12:110230500-110230500 12:109792695-109792695 NRM005 Neuromuscular Disease TRPV4 NM_021625.4(TRPV4):c.946C>T (p.Arg316Cys) SNV Pathogenic 5001 rs267607145 12:110236625-110236625 12:109798820-109798820 NRM005 Neuromuscular Disease TRPV4 NM_021625.4(TRPV4):c.805C>T (p.Arg269Cys) SNV Pathogenic 5002 rs267607146 12:110238471-110238471 12:109800666-109800666 NRM005 Neuromuscular Disease TRPV4 NM_021625.4(TRPV4):c.2396C>G (p.Pro799Arg) SNV Pathogenic 18432 rs121912637 12:110222183-110222183 12:109784378-109784378 NRM005 Neuromuscular Disease TRPV4 NM_021625.4(TRPV4):c.2389G>A (p.Glu797Lys) SNV Pathogenic 18435 rs267607149 12:110222190-110222190 12:109784385-109784385 NRM005 Neuromuscular Disease TRPV4 NM_021625.4(TRPV4):c.1625C>A (p.Ser542Tyr) SNV Pathogenic 30469 rs387906902 12:110231365-110231365 12:109793560-109793560 NRM005 Neuromuscular Disease TRPV4 NM_021625.4(TRPV4):c.694C>T (p.Arg232Cys) SNV Pathogenic 30472 rs387906904 12:110240814-110240814 12:109803009-109803009 NRM005 Neuromuscular Disease TRPV4 NM_021625.4(TRPV4):c.232G>T (p.Gly78Trp) SNV Pathogenic 30474 rs397514474 12:110252370-110252370 12:109814565-109814565 NRM005 Neuromuscular Disease TRPV4 NM_021625.4(TRPV4):c.2219C>T (p.Thr740Ile) SNV Pathogenic 30475 rs387906906 12:110224632-110224632 12:109786827-109786827 NRM005 Neuromuscular Disease TRPV4 NM_021625.4(TRPV4):c.826A>G (p.Lys276Glu) SNV Pathogenic 30476 rs387906907 12:110238450-110238450 12:109800645-109800645 NRM005 Neuromuscular Disease MYH7 NM_000257.4(MYH7):c.5177_5179AGA[3] (p.Lys1729del) short repeat Pathogenic 42096 rs367543052 14:23884685-23884687 14:23415476-23415478 NRM005 Neuromuscular Disease LMNA NM_170707.4(LMNA):c.1608+1G>A SNV Pathogenic 66853 rs267607592 1:156107024-156107024 1:156137233-156137233 NRM005 Neuromuscular Disease TRPV4 NM_021625.4(TRPV4):c.1772A>G (p.Tyr591Cys) SNV Pathogenic 126467 rs515726157 12:110230509-110230509 12:109792704-109792704 NRM005 Neuromuscular Disease TRPV4 NM_021625.4(TRPV4):c.2396_2412del (p.Pro799fs) deletion Pathogenic 126478 rs515726166 12:110222167-110222183 12:109784362-109784378 NRM005 Neuromuscular Disease RYR1 NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) SNV Pathogenic 159856 rs200563280 19:38987106-38987106 19:38496466-38496466 NRM005 Neuromuscular Disease EMD NM_000117.3(EMD):c.266-2A>G SNV Pathogenic 163403 rs727503036 X:153608592-153608592 X:154380232-154380232 NRM005 Neuromuscular Disease EMD NM_000117.2(EMD):c.650_654dupTGGGC short repeat Pathogenic 179133 rs730880352 X:153609432-153609433 X:154381072-154381073 NRM005 Neuromuscular Disease ACTA1 NM_001100.4(ACTA1):c.808G>C (p.Gly270Arg) SNV Pathogenic 228243 rs121909525 1:229567741-229567741 1:229431994-229431994 NRM005 Neuromuscular Disease DES NM_001927.4(DES):c.1285C>T (p.Arg429Ter) SNV Pathogenic/Likely pathogenic 177872 rs150974575 2:220288539-220288539 2:219423817-219423817 NRM005 Neuromuscular Disease LMNA NM_170707.4(LMNA):c.1609-3C>G SNV Pathogenic/Likely pathogenic 66856 rs267607581 1:156107442-156107442 1:156137651-156137651 NRM005 Neuromuscular Disease DES NM_001927.4(DES):c.1360C>T (p.Arg454Trp) SNV Pathogenic/Likely pathogenic 66402 rs267607490 2:220290456-220290456 2:219425734-219425734 NRM005 Neuromuscular Disease DES NM_001927.4(DES):c.35C>T (p.Ser12Phe) SNV Pathogenic/Likely pathogenic 66412 rs267607495 2:220283219-220283219 2:219418497-219418497 NRM005 Neuromuscular Disease LMNA NM_170707.4(LMNA):c.1146C>T (p.Gly382=) SNV Pathogenic/Likely pathogenic 48032 rs57508089 1:156105901-156105901 1:156136110-156136110 NRM005 Neuromuscular Disease TRPV4 NM_021625.4(TRPV4):c.557G>A (p.Arg186Gln) SNV Pathogenic/Likely pathogenic 39419 rs397514494 12:110246103-110246103 12:109808298-109808298 NRM005 Neuromuscular Disease TRPV4 NM_021625.4(TRPV4):c.947G>A (p.Arg316His) SNV Pathogenic/Likely pathogenic 30473 rs387906905 12:110236624-110236624 12:109798819-109798819 NRM005 Neuromuscular Disease TRPV4 NM_021625.4(TRPV4):c.943C>T (p.Arg315Trp) SNV Pathogenic/Likely pathogenic 4999 rs267607143 12:110236628-110236628 12:109798823-109798823 NRM005 Neuromuscular Disease TRPV4 NM_021625.4(TRPV4):c.806G>A (p.Arg269His) SNV Pathogenic/Likely pathogenic 5000 rs267607144 12:110238470-110238470 12:109800665-109800665 NRM005 Neuromuscular Disease TRPV4 NM_021625.4(TRPV4):c.1858G>A (p.Val620Ile) SNV Pathogenic/Likely pathogenic 4993 rs121912633 12:110230201-110230201 12:109792396-109792396 NRM005 Neuromuscular Disease TRPV4 NM_021625.4(TRPV4):c.832G>A (p.Glu278Lys) SNV Likely pathogenic 18434 rs267607148 12:110238444-110238444 12:109800639-109800639 NRM005 Neuromuscular Disease SGCD NM_000337.5(SGCD):c.390del (p.Ala131fs) deletion Likely pathogenic 48118 rs397517921 5:156021946-156021946 5:156594936-156594936 NRM005 Neuromuscular Disease MYH7 NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) SNV Likely pathogenic 43069 rs397516248 14:23884362-23884362 14:23415153-23415153 NRM005 Neuromuscular Disease TTN NM_001267550.2(TTN):c.15496+1G>A SNV Likely pathogenic 46601 rs397517481 2:179599054-179599054 2:178734327-178734327 NRM005 Neuromuscular Disease SGCD NM_000337.5(SGCD):c.294+1G>A SNV Likely pathogenic 165232 rs727503422 5:155935713-155935713 5:156508703-156508703 NRM005 Neuromuscular Disease TTN NM_001267550.2(TTN):c.76389_76392AACA[1] (p.Thr25464_Asn25465insTer) short repeat Likely pathogenic 242625 rs727504483 2:179434463-179434466 2:178569736-178569739 NRM005 Neuromuscular Disease DES NM_001927.4(DES):c.600del (p.Lys201fs) deletion Likely pathogenic 178660 rs727504448 2:220284838-220284838 2:219420116-219420116 NRM005 Neuromuscular Disease EMD NM_000117.3(EMD):c.83-2A>G SNV Likely pathogenic 179496 rs727504901 X:153608048-153608048 X:154379688-154379688 NRM005 Neuromuscular Disease RYR1 NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln) SNV Conflicting interpretations of pathogenicity 133012 rs193922839 19:39025415-39025415 19:38534775-38534775 NRM005 Neuromuscular Disease LDB3 NM_007078.3(LDB3):c.690-4678C>T SNV Conflicting interpretations of pathogenicity 4728 rs121908334 10:88446975-88446975 10:86687218-86687218 NRM005 Neuromuscular Disease RYR1 NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) SNV Conflicting interpretations of pathogenicity 133075 rs193922879 19:39071022-39071022 19:38580382-38580382 NRM005 Neuromuscular Disease TRPV4 NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) SNV Benign/Likely benign 126480 rs187864727 12:110240859-110240859 12:109803054-109803054 NRM005 Neuromuscular Disease TRNL1 NC_012920.1:m.3275C>T SNV Benign 370045 rs1057516057 MT:3275-3275 MT:3275-3275 NRM005 Neuromuscular Disease TTN NM_001267550.2(TTN):c.106019del (p.Gly35340fs) deletion no interpretation for the single variant 242624 rs727504482 2:179395323-179395323 2:178530596-178530596 NRM005 Neuromuscular Disease ATP6 NC_012920.1:m.8993_8994inv inversion Pathogenic 693047 MT:8993-8994 MT:8993-8994 NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa ATP6 NC_012920.1:m.8993T>G SNV Pathogenic 9641 rs199476133 MT:8993-8993 MT:8993-8993 NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa ATP6 NC_012920.1:m.8993T>C SNV Pathogenic 9642 rs199476133 MT:8993-8993 MT:8993-8993 NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa ATP6 m.8618dupT duplication Pathogenic 9648 rs387906423 MT:8617-8618 MT:8617-8618 NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa ATP6 NC_012920.1:m.8686T>C SNV Uncertain significance 585120 rs1569484231 MT:8686-8686 MT:8686-8686 NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa SPTLC1 NM_006415.4(SPTLC1):c.399T>G (p.Cys133Trp) SNV Pathogenic 4803 rs119482082 9:94842326-94842326 9:92080044-92080044 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.992C>T (p.Ser331Phe) SNV Pathogenic 4804 rs267607087 9:94809543-94809543 9:92047261-92047261 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1055C>T (p.Ala352Val) SNV Pathogenic 4805 rs267607088 9:94809480-94809480 9:92047198-92047198 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1518_1520delinsATA (p.Asp506_Pro507delinsGluTyr) indel Pathogenic 29683 rs199473691 19:10265705-10265707 19:10155029-10155031 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.398G>A (p.Cys133Tyr) SNV Pathogenic 4800 rs119482081 9:94842327-94842327 9:92080045-92080045 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1531T>C (p.Tyr511His) SNV Pathogenic 162188 rs199473692 19:10265694-10265694 19:10155018-10155018 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.992C>A (p.Ser331Tyr) SNV Pathogenic 372788 rs267607087 9:94809543-94809543 9:92047261-92047261 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) SNV Pathogenic/Likely pathogenic 4801 rs119482083 9:94830377-94830377 9:92068095-92068095 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) SNV Pathogenic/Likely pathogenic 29682 rs199473690 19:10265693-10265693 19:10155017-10155017 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1072G>C (p.Glu358Gln) SNV Likely pathogenic 209194 rs797045071 9:94809463-94809463 9:92047181-92047181 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.112_114CTT[1] (p.Leu39del) short repeat Likely pathogenic 802489 9:94874785-94874787 9:92112503-92112505 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1520C>T (p.Pro507Leu) SNV Likely pathogenic 654394 19:10265705-10265705 19:10155029-10155029 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.327C>T (p.Asn109=) SNV Conflicting interpretations of pathogenicity 592968 rs144685297 19:10291144-10291144 19:10180468-10180468 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3668G>A (p.Arg1223His) SNV Conflicting interpretations of pathogenicity 438391 rs757460628 19:10250860-10250860 19:10140184-10140184 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.120C>G (p.Phe40Leu) SNV Conflicting interpretations of pathogenicity 449988 rs142153571 9:94874782-94874782 9:92112500-92112500 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.890A>G (p.Lys297Arg) SNV Conflicting interpretations of pathogenicity 472284 rs201025441 19:10277275-10277275 19:10166599-10166599 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.520A>C (p.Thr174Pro) SNV Conflicting interpretations of pathogenicity 472279 rs201319352 19:10288017-10288017 19:10177341-10177341 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2387C>T (p.Thr796Met) SNV Conflicting interpretations of pathogenicity 500875 rs148987580 19:10260328-10260328 19:10149652-10149652 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1320C>T (p.Thr440=) SNV Conflicting interpretations of pathogenicity 539624 rs143925123 19:10267146-10267146 19:10156470-10156470 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2667C>T (p.Tyr889=) SNV Conflicting interpretations of pathogenicity 539613 rs199832007 19:10259613-10259613 19:10148937-10148937 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1066G>A (p.Ala356Thr) SNV Conflicting interpretations of pathogenicity 539599 rs529074384 19:10270717-10270717 19:10160041-10160041 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.388G>T (p.Val130Leu) SNV Conflicting interpretations of pathogenicity 704277 9:94842337-94842337 9:92080055-92080055 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4173G>A (p.Pro1391=) SNV Conflicting interpretations of pathogenicity 834643 19:10248628-10248628 19:10137952-10137952 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu) SNV Conflicting interpretations of pathogenicity 234309 rs150999369 19:10283803-10283803 19:10173127-10173127 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.406C>T (p.Arg136Cys) SNV Conflicting interpretations of pathogenicity 234461 rs138841970 19:10291065-10291065 19:10180389-10180389 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4876G>A (p.Glu1626Lys) SNV Conflicting interpretations of pathogenicity 246060 rs201774098 19:10244366-10244366 19:10133690-10133690 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2693C>T (p.Thr898Ile) SNV Conflicting interpretations of pathogenicity 246281 rs201213597 19:10259587-10259587 19:10148911-10148911 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.868G>A (p.Glu290Lys) SNV Conflicting interpretations of pathogenicity 246059 rs200024502 19:10277297-10277297 19:10166621-10166621 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.575C>T (p.Ala192Val) SNV Conflicting interpretations of pathogenicity 246280 rs62621089 19:10286289-10286289 19:10175613-10175613 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.382C>A (p.Pro128Thr) SNV Conflicting interpretations of pathogenicity 246583 rs146601335 19:10291089-10291089 19:10180413-10180413 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3117-8G>A SNV Conflicting interpretations of pathogenicity 257540 rs769623856 19:10252904-10252904 19:10142228-10142228 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.150C>T (p.His50=) SNV Conflicting interpretations of pathogenicity 196315 rs146112081 19:10291529-10291529 19:10180853-10180853 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3156C>T (p.His1052=) SNV Conflicting interpretations of pathogenicity 196614 rs141856197 19:10252857-10252857 19:10142181-10142181 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.867C>T (p.Asp289=) SNV Conflicting interpretations of pathogenicity 706949 19:10277298-10277298 19:10166622-10166622 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1171-7C>T SNV Conflicting interpretations of pathogenicity 767054 19:10270450-10270450 19:10159774-10159774 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.165+4C>T SNV Conflicting interpretations of pathogenicity 860758 9:94874733-94874733 9:92112451-92112451 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.393C>T (p.Pro131=) SNV Conflicting interpretations of pathogenicity 327925 rs143904813 19:10291078-10291078 19:10180402-10180402 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2914G>A (p.Val972Met) SNV Conflicting interpretations of pathogenicity 376891 rs148038464 19:10254644-10254644 19:10143968-10143968 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1402G>T (p.Ala468Ser) SNV Conflicting interpretations of pathogenicity 388906 rs748723735 9:94794767-94794767 9:92032485-92032485 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1329-9T>C SNV Conflicting interpretations of pathogenicity 380134 rs778388513 9:94794849-94794849 9:92032567-92032567 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4032G>A (p.Pro1344=) SNV Conflicting interpretations of pathogenicity 387825 rs150774582 19:10249198-10249198 19:10138522-10138522 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4554C>T (p.His1518=) SNV Conflicting interpretations of pathogenicity 282132 rs753248212 19:10246899-10246899 19:10136223-10136223 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3806+6C>T SNV Conflicting interpretations of pathogenicity 289710 rs371779379 19:10250716-10250716 19:10140040-10140040 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.58-9C>T SNV Conflicting interpretations of pathogenicity 367552 rs769188151 9:94874853-94874853 9:92112571-92112571 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.640A>G (p.Met214Val) SNV Conflicting interpretations of pathogenicity 367549 rs781435924 9:94821511-94821511 9:92059229-92059229 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.977A>C (p.Gln326Pro) SNV Conflicting interpretations of pathogenicity 327919 rs143287044 19:10273374-10273374 19:10162698-10162698 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.410C>T (p.Thr137Met) SNV Conflicting interpretations of pathogenicity 327924 rs377146699 19:10291061-10291061 19:10180385-10180385 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3948+4G>A SNV Conflicting interpretations of pathogenicity 327890 rs774356396 19:10250348-10250348 19:10139672-10139672 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1044-18dup duplication Conflicting interpretations of pathogenicity 327913 rs59599980 19:10270746-10270747 19:10160070-10160071 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.483T>C (p.Thr161=) SNV Conflicting interpretations of pathogenicity 327923 rs764496230 19:10290873-10290873 19:10180197-10180197 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.*274T>C SNV Uncertain significance 327881 rs886054125 19:10244069-10244069 19:10133393-10133393 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4204A>T (p.Ile1402Phe) SNV Uncertain significance 327888 rs886054127 19:10248597-10248597 19:10137921-10137921 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3394+7C>T SNV Uncertain significance 327895 rs886054128 19:10251774-10251774 19:10141098-10141098 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2807G>A (p.Arg936Gln) SNV Uncertain significance 327898 rs763321599 19:10257114-10257114 19:10146438-10146438 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.916C>T (p.Pro306Ser) SNV Uncertain significance 327920 rs761747950 19:10274012-10274012 19:10163336-10163336 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.500C>G (p.Pro167Arg) SNV Uncertain significance 327922 rs886054129 19:10288037-10288037 19:10177361-10177361 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3343C>T (p.Pro1115Ser) SNV Uncertain significance 327897 rs755865204 19:10251832-10251832 19:10141156-10141156 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.-34C>G SNV Uncertain significance 327929 rs112908248 19:10305609-10305609 19:10194933-10194933 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.*18C>T SNV Uncertain significance 327884 rs778467461 19:10244325-10244325 19:10133649-10133649 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.*503C>T SNV Uncertain significance 367535 rs994723205 9:94794244-94794244 9:92031962-92031962 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.*165T>G SNV Uncertain significance 327882 rs192952800 19:10244178-10244178 19:10133502-10133502 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.-27C>T SNV Uncertain significance 367553 rs558203491 9:94877679-94877679 9:92115397-92115397 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.*1093G>A SNV Uncertain significance 367530 rs1057515685 9:94793654-94793654 9:92031372-92031372 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.*631G>C SNV Uncertain significance 367533 rs1057515686 9:94794116-94794116 9:92031834-92031834 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.*605T>C SNV Uncertain significance 367534 rs1057515687 9:94794142-94794142 9:92031860-92031860 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2728G>T (p.Val910Leu) SNV Uncertain significance 285796 rs150863675 19:10257193-10257193 19:10146517-10146517 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2721-10T>A SNV Uncertain significance 285801 rs377355204 19:10257210-10257210 19:10146534-10146534 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.*750C>T SNV Uncertain significance 367532 rs768395365 9:94793997-94793997 9:92031715-92031715 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.*451G>A SNV Uncertain significance 367537 rs868416931 9:94794296-94794296 9:92032014-92032014 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.*200G>T SNV Uncertain significance 367539 rs1057515689 9:94794547-94794547 9:92032265-92032265 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3232G>A (p.Val1078Met) SNV Uncertain significance 373368 rs560179619 19:10252781-10252781 19:10142105-10142105 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.56C>T (p.Ser19Leu) SNV Uncertain significance 373572 rs747559452 19:10305520-10305520 19:10194844-10194844 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1492+6T>C SNV Uncertain significance 851189 19:10266523-10266523 19:10155847-10155847 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1399+6G>T SNV Uncertain significance 849917 19:10267061-10267061 19:10156385-10156385 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.886G>A (p.Glu296Lys) SNV Uncertain significance 889424 19:10277279-10277279 19:10166603-10166603 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.720A>G (p.Arg240=) SNV Uncertain significance 889425 19:10283814-10283814 19:10173138-10173138 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.-26C>T SNV Uncertain significance 891930 19:10305601-10305601 19:10194925-10194925 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3117-4G>A SNV Uncertain significance 891806 19:10252900-10252900 19:10142224-10142224 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2100G>A (p.Gln700=) SNV Uncertain significance 889363 19:10262443-10262443 19:10151767-10151767 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.*1307C>T SNV Uncertain significance 915016 9:94793440-94793440 9:92031158-92031158 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.*797T>G SNV Uncertain significance 913059 9:94793950-94793950 9:92031668-92031668 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.*451G>T SNV Uncertain significance 913421 9:94794296-94794296 9:92032014-92032014 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1226T>G (p.Val409Gly) SNV Uncertain significance 915064 9:94800558-94800558 9:92038276-92038276 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.707G>A (p.Arg236His) SNV Uncertain significance 912332 9:94817760-94817760 9:92055478-92055478 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.661C>A (p.Leu221Ile) SNV Uncertain significance 912333 9:94821490-94821490 9:92059208-92059208 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.442T>C (p.Leu148=) SNV Uncertain significance 913465 9:94830366-94830366 9:92068084-92068084 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.25G>A (p.Val9Ile) SNV Uncertain significance 913466 9:94877628-94877628 9:92115346-92115346 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.*253G>A SNV Uncertain significance 891485 19:10244090-10244090 19:10133414-10133414 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.*211G>C SNV Uncertain significance 891486 19:10244132-10244132 19:10133456-10133456 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.*34A>C SNV Uncertain significance 891736 19:10244309-10244309 19:10133633-10133633 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.*29G>A SNV Uncertain significance 891737 19:10244314-10244314 19:10133638-10133638 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4164C>T (p.Ser1388=) SNV Uncertain significance 889307 19:10248637-10248637 19:10137961-10137961 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4074C>T (p.Ser1358=) SNV Uncertain significance 889989 19:10249156-10249156 19:10138480-10138480 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3580C>T (p.Arg1194Trp) SNV Uncertain significance 889990 19:10250948-10250948 19:10140272-10140272 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3567G>A (p.Ala1189=) SNV Uncertain significance 891547 19:10250961-10250961 19:10140285-10140285 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3537G>A (p.Thr1179=) SNV Uncertain significance 891548 19:10250991-10250991 19:10140315-10140315 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3294C>G (p.Arg1098=) SNV Uncertain significance 891549 19:10252719-10252719 19:10142043-10142043 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.341G>A (p.Arg114Lys) SNV Uncertain significance 246305 rs554894511 19:10291130-10291130 19:10180454-10180454 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2689A>G (p.Lys897Glu) SNV Uncertain significance 245596 rs746143694 19:10259591-10259591 19:10148915-10148915 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3353A>G (p.His1118Arg) SNV Uncertain significance 246040 rs150331990 19:10251822-10251822 19:10141146-10141146 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.889-5G>A SNV Uncertain significance 245877 rs763731160 9:94809995-94809995 9:92047713-92047713 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.208G>T (p.Val70Phe) SNV Uncertain significance 234709 rs764460003 9:94871074-94871074 9:92108792-92108792 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.919A>G (p.Lys307Glu) SNV Uncertain significance 234681 rs148831705 19:10274009-10274009 19:10163333-10163333 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3813C>T (p.Cys1271=) SNV Uncertain significance 853829 19:10250487-10250487 19:10139811-10139811 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3714C>T (p.Gly1238=) SNV Uncertain significance 857283 19:10250814-10250814 19:10140138-10140138 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3694G>A (p.Asp1232Asn) SNV Uncertain significance 843193 19:10250834-10250834 19:10140158-10140158 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3534C>A (p.Asp1178Glu) SNV Uncertain significance 848423 19:10250994-10250994 19:10140318-10140318 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3210G>A (p.Lys1070=) SNV Uncertain significance 847823 19:10252803-10252803 19:10142127-10142127 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3167A>G (p.Asn1056Ser) SNV Uncertain significance 851195 19:10252846-10252846 19:10142170-10142170 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3013G>A (p.Glu1005Lys) SNV Uncertain significance 848517 19:10254545-10254545 19:10143869-10143869 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2645A>G (p.Gln882Arg) SNV Uncertain significance 839562 19:10259635-10259635 19:10148959-10148959 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2586G>A (p.Glu862=) SNV Uncertain significance 860037 19:10260129-10260129 19:10149453-10149453 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2251G>A (p.Gly751Arg) SNV Uncertain significance 853309 19:10262088-10262088 19:10151412-10151412 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2152G>A (p.Asp718Asn) SNV Uncertain significance 834664 19:10262187-10262187 19:10151511-10151511 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2090G>A (p.Arg697Gln) SNV Uncertain significance 844826 19:10262453-10262453 19:10151777-10151777 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1750G>A (p.Gly584Arg) SNV Uncertain significance 846310 19:10265344-10265344 19:10154668-10154668 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1708G>A (p.Ala570Thr) SNV Uncertain significance 857728 19:10265386-10265386 19:10154710-10154710 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1534G>T (p.Ala512Ser) SNV Uncertain significance 841218 19:10265691-10265691 19:10155015-10155015 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1046C>T (p.Thr349Met) SNV Uncertain significance 846156 19:10270737-10270737 19:10160061-10160061 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.946G>A (p.Glu316Lys) SNV Uncertain significance 848529 19:10273405-10273405 19:10162729-10162729 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.937C>T (p.Arg313Trp) SNV Uncertain significance 853368 19:10273414-10273414 19:10162738-10162738 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.901A>C (p.Lys301Gln) SNV Uncertain significance 859966 19:10274027-10274027 19:10163351-10163351 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.855C>T (p.Gly285=) SNV Uncertain significance 852192 19:10277310-10277310 19:10166634-10166634 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.614C>G (p.Ser205Trp) SNV Uncertain significance 852486 19:10286250-10286250 19:10175574-10175574 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.413C>G (p.Pro138Arg) SNV Uncertain significance 850374 19:10291058-10291058 19:10180382-10180382 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.374C>T (p.Ala125Val) SNV Uncertain significance 860811 19:10291097-10291097 19:10180421-10180421 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.357A>C (p.Arg119Ser) SNV Uncertain significance 851659 19:10291114-10291114 19:10180438-10180438 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.206G>T (p.Arg69Leu) SNV Uncertain significance 853627 19:10291473-10291473 19:10180797-10180797 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.148C>T (p.His50Tyr) SNV Uncertain significance 861661 19:10291531-10291531 19:10180855-10180855 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.5C>T (p.Pro2Leu) SNV Uncertain significance 838352 19:10305571-10305571 19:10194895-10194895 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1136+6T>C SNV Uncertain significance 862251 9:94808275-94808275 9:92045993-92045993 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1492+1G>A SNV Uncertain significance 858959 19:10266528-10266528 19:10155852-10155852 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3394+4C>T SNV Uncertain significance 859581 19:10251777-10251777 19:10141101-10141101 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.891+1G>A SNV Uncertain significance 860348 19:10277273-10277273 19:10166597-10166597 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1191G>A (p.Leu397=) SNV Uncertain significance 808443 19:10270423-10270423 19:10159747-10159747 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1057C>T (p.Leu353Phe) SNV Uncertain significance 812049 9:94809478-94809478 9:92047196-92047196 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.974T>C (p.Ile325Thr) SNV Uncertain significance 811408 9:94809905-94809905 9:92047623-92047623 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NC_000009.12:g.(?_92032445)_(92115390_?)dup duplication Uncertain significance 832517 9:94794727-94877672 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1422G>A (p.Ter474=) SNV Uncertain significance 855200 9:94794747-94794747 9:92032465-92032465 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1204A>G (p.Thr402Ala) SNV Uncertain significance 838490 9:94800580-94800580 9:92038298-92038298 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1160G>A (p.Gly387Glu) SNV Uncertain significance 857854 9:94800624-94800624 9:92038342-92038342 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1150A>G (p.Lys384Glu) SNV Uncertain significance 862388 9:94800634-94800634 9:92038352-92038352 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1036G>C (p.Ala346Pro) SNV Uncertain significance 850302 9:94809499-94809499 9:92047217-92047217 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.859C>T (p.Arg287Ter) SNV Uncertain significance 864757 9:94812271-94812271 9:92049989-92049989 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.806C>G (p.Ala269Gly) SNV Uncertain significance 854944 9:94812324-94812324 9:92050042-92050042 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.706C>T (p.Arg236Cys) SNV Uncertain significance 842243 9:94817761-94817761 9:92055479-92055479 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.667G>T (p.Glu223Ter) SNV Uncertain significance 855466 9:94821484-94821484 9:92059202-92059202 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.655C>T (p.Arg219Ter) SNV Uncertain significance 854822 9:94821496-94821496 9:92059214-92059214 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.451C>T (p.Arg151Cys) SNV Uncertain significance 841024 9:94830357-94830357 9:92068075-92068075 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.378G>C (p.Lys126Asn) SNV Uncertain significance 863264 9:94842347-94842347 9:92080065-92080065 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.362C>G (p.Ala121Gly) SNV Uncertain significance 834492 9:94842363-94842363 9:92080081-92080081 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.329G>A (p.Gly110Glu) SNV Uncertain significance 838070 9:94843177-94843177 9:92080895-92080895 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.131dup (p.Tyr44Ter) duplication Uncertain significance 843099 9:94874770-94874771 9:92112488-92112489 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4514C>G (p.Ala1505Gly) SNV Uncertain significance 860100 19:10246939-10246939 19:10136263-10136263 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4424A>G (p.His1475Arg) SNV Uncertain significance 854010 19:10247826-10247826 19:10137150-10137150 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1281T>C (p.Ser427=) SNV Uncertain significance 539623 rs1555691724 19:10267185-10267185 19:10156509-10156509 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3523+6C>T SNV Uncertain significance 539603 rs372240993 19:10251451-10251451 19:10140775-10140775 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1645-10C>A SNV Uncertain significance 539607 rs752563425 19:10265459-10265459 19:10154783-10154783 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.299A>G (p.Asn100Ser) SNV Uncertain significance 539597 rs1375073063 19:10291172-10291172 19:10180496-10180496 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2474C>T (p.Ser825Leu) SNV Uncertain significance 539609 rs1555690467 19:10260241-10260241 19:10149565-10149565 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1064G>A (p.Arg355His) SNV Uncertain significance 539600 rs201945078 19:10270719-10270719 19:10160043-10160043 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.874G>A (p.Glu292Lys) SNV Uncertain significance 539598 rs1257025095 19:10277291-10277291 19:10166615-10166615 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.737G>A (p.Arg246His) SNV Uncertain significance 539601 rs771381056 19:10283797-10283797 19:10173121-10173121 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.316C>T (p.Arg106Cys) SNV Uncertain significance 539605 rs759600542 19:10291155-10291155 19:10180479-10180479 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.985C>T (p.Arg329Ter) SNV Uncertain significance 526711 rs1215612827 9:94809550-94809550 9:92047268-92047268 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.929C>G (p.Ala310Gly) SNV Uncertain significance 526710 rs768841574 9:94809950-94809950 9:92047668-92047668 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1213C>T (p.Arg405Cys) SNV Uncertain significance 526705 rs745684683 9:94800571-94800571 9:92038289-92038289 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.745A>G (p.Met249Val) SNV Uncertain significance 526708 rs1279567220 9:94817722-94817722 9:92055440-92055440 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1214G>A (p.Arg405His) SNV Uncertain significance 526709 rs567541925 9:94800570-94800570 9:92038288-92038288 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.386del (p.Gly129fs) deletion Uncertain significance 526707 rs1554711394 9:94842339-94842339 9:92080057-92080057 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4327C>A (p.His1443Asn) SNV Uncertain significance 539595 rs1255037718 19:10247923-10247923 19:10137247-10137247 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2794G>A (p.Asp932Asn) SNV Uncertain significance 539602 rs910412179 19:10257127-10257127 19:10146451-10146451 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2018A>G (p.Glu673Gly) SNV Uncertain significance 539608 rs1555691311 19:10264970-10264970 19:10154294-10154294 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.78G>C (p.Arg26Ser) SNV Uncertain significance 539596 rs780503694 19:10305498-10305498 19:10194822-10194822 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4427A>G (p.His1476Arg) SNV Uncertain significance 539604 rs765347113 19:10247823-10247823 19:10137147-10137147 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.407G>A (p.Arg136His) SNV Uncertain significance 472274 rs775139340 19:10291064-10291064 19:10180388-10180388 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.734C>T (p.Thr245Met) SNV Uncertain significance 498534 rs143598088 19:10283800-10283800 19:10173124-10173124 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.328G>A (p.Gly110Arg) SNV Uncertain significance 472270 rs376894659 19:10291143-10291143 19:10180467-10180467 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4483G>A (p.Val1495Met) SNV Uncertain significance 472277 rs781301028 19:10247767-10247767 19:10137091-10137091 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4293+5T>C SNV Uncertain significance 472275 rs199506146 19:10248503-10248503 19:10137827-10137827 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3262G>A (p.Val1088Ile) SNV Uncertain significance 472269 rs776461147 19:10252751-10252751 19:10142075-10142075 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2377G>T (p.Ala793Ser) SNV Uncertain significance 472266 rs1223065154 19:10260533-10260533 19:10149857-10149857 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1378G>C (p.Asp460His) SNV Uncertain significance 472263 rs1403539644 19:10267088-10267088 19:10156412-10156412 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2836G>A (p.Gly946Ser) SNV Uncertain significance 450129 rs777416084 19:10257085-10257085 19:10146409-10146409 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.51T>G (p.Leu17=) SNV Uncertain significance 456603 rs1400591449 9:94877602-94877602 9:92115320-92115320 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1159G>T (p.Gly387Trp) SNV Uncertain significance 456602 rs1298409243 9:94800625-94800625 9:92038343-92038343 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1015G>T (p.Ala339Ser) SNV Uncertain significance 456600 rs1554706429 9:94809520-94809520 9:92047238-92047238 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1012T>A (p.Ser338Thr) SNV Uncertain significance 456599 rs1554706430 9:94809523-94809523 9:92047241-92047241 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.919A>G (p.Met307Val) SNV Uncertain significance 456606 rs1554706531 9:94809960-94809960 9:92047678-92047678 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.472A>G (p.Thr158Ala) SNV Uncertain significance 426856 rs779810169 9:94830336-94830336 9:92068054-92068054 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.388G>A (p.Val130Met) SNV Uncertain significance 426895 rs200773661 9:94842337-94842337 9:92080055-92080055 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3519A>C (p.Gln1173His) SNV Uncertain significance 426877 rs151305495 19:10251461-10251461 19:10140785-10140785 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2383G>A (p.Val795Ile) SNV Uncertain significance 472267 rs1555690511 19:10260332-10260332 19:10149656-10149656 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4193C>T (p.Ser1398Leu) SNV Uncertain significance 618605 rs375225009 19:10248608-10248608 19:10137932-10137932 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.650A>G (p.Asp217Gly) SNV Uncertain significance 634570 rs1568249130 19:10284580-10284580 19:10173904-10173904 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1168C>T (p.Leu390Phe) SNV Uncertain significance 651220 9:94800616-94800616 9:92038334-92038334 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.811A>C (p.Ile271Leu) SNV Uncertain significance 661844 9:94812319-94812319 9:92050037-92050037 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.707G>C (p.Arg236Pro) SNV Uncertain significance 657595 9:94817760-94817760 9:92055478-92055478 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.632A>G (p.His211Arg) SNV Uncertain significance 640011 9:94821519-94821519 9:92059237-92059237 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.342C>A (p.Asn114Lys) SNV Uncertain significance 657806 9:94843164-94843164 9:92080882-92080882 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.139C>T (p.Gln47Ter) SNV Uncertain significance 642855 9:94874763-94874763 9:92112481-92112481 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.71A>G (p.His24Arg) SNV Uncertain significance 660001 9:94874831-94874831 9:92112549-92112549 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3401G>A (p.Gly1134Asp) SNV Uncertain significance 643368 19:10251579-10251579 19:10140903-10140903 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3352C>T (p.His1118Tyr) SNV Uncertain significance 643463 19:10251823-10251823 19:10141147-10141147 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3223C>T (p.Arg1075Cys) SNV Uncertain significance 649003 19:10252790-10252790 19:10142114-10142114 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2888C>T (p.Thr963Met) SNV Uncertain significance 663714 19:10257033-10257033 19:10146357-10146357 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2836G>T (p.Gly946Cys) SNV Uncertain significance 639423 19:10257085-10257085 19:10146409-10146409 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2711A>T (p.Asn904Ile) SNV Uncertain significance 661421 19:10259569-10259569 19:10148893-10148893 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2366C>T (p.Pro789Leu) SNV Uncertain significance 652058 19:10260544-10260544 19:10149868-10149868 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2211_2213GAA[5] (p.Lys741dup) short repeat Uncertain significance 657807 19:10262116-10262117 19:10151440-10151441 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1987G>A (p.Ala663Thr) SNV Uncertain significance 638986 19:10265001-10265001 19:10154325-10154325 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1642G>A (p.Glu548Lys) SNV Uncertain significance 658583 19:10265583-10265583 19:10154907-10154907 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1394T>C (p.Leu465Pro) SNV Uncertain significance 641758 19:10267072-10267072 19:10156396-10156396 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1196A>G (p.Asn399Ser) SNV Uncertain significance 662528 19:10270418-10270418 19:10159742-10159742 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1066G>T (p.Ala356Ser) SNV Uncertain significance 657897 19:10270717-10270717 19:10160041-10160041 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1051A>G (p.Lys351Glu) SNV Uncertain significance 640540 19:10270732-10270732 19:10160056-10160056 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1043C>T (p.Pro348Leu) SNV Uncertain significance 644560 19:10271060-10271060 19:10160384-10160384 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.931G>T (p.Ala311Ser) SNV Uncertain significance 649606 19:10273420-10273420 19:10162744-10162744 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.898A>C (p.Lys300Gln) SNV Uncertain significance 666124 19:10274030-10274030 19:10163354-10163354 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.692G>A (p.Arg231Lys) SNV Uncertain significance 644649 19:10283842-10283842 19:10173166-10173166 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.527A>G (p.Lys176Arg) SNV Uncertain significance 649462 19:10288010-10288010 19:10177334-10177334 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.451A>G (p.Arg151Gly) SNV Uncertain significance 642555 19:10290905-10290905 19:10180229-10180229 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.888+5G>T SNV Uncertain significance 657032 9:94812237-94812237 9:92049955-92049955 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3116+3C>G SNV Uncertain significance 641193 19:10254439-10254439 19:10143763-10143763 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1170+5G>C SNV Uncertain significance 641640 19:10270513-10270513 19:10159837-10159837 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.118-7C>G SNV Uncertain significance 666069 19:10291568-10291568 19:10180892-10180892 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.382C>T (p.Pro128Ser) SNV Uncertain significance 539606 rs146601335 19:10291089-10291089 19:10180413-10180413 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.225+4A>G SNV Uncertain significance 539610 rs1265807438 19:10291450-10291450 19:10180774-10180774 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.856G>A (p.Val286Met) SNV Uncertain significance 546126 rs368960099 19:10277309-10277309 19:10166633-10166633 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4636C>G (p.Pro1546Ala) SNV Uncertain significance 547912 rs1555687655 19:10246817-10246817 19:10136141-10136141 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1385C>A (p.Ser462Tyr) SNV Uncertain significance 582614 rs150792865 9:94794784-94794784 9:92032502-92032502 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.908T>C (p.Ile303Thr) SNV Uncertain significance 567643 rs766476735 9:94809971-94809971 9:92047689-92047689 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.616A>G (p.Ile206Val) SNV Uncertain significance 566564 rs749175480 9:94821535-94821535 9:92059253-92059253 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.472A>T (p.Thr158Ser) SNV Uncertain significance 576860 rs779810169 9:94830336-94830336 9:92068054-92068054 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.428-1G>C SNV Uncertain significance 567474 rs776829771 9:94830381-94830381 9:92068099-92068099 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1054G>A (p.Ala352Thr) SNV Uncertain significance 573770 rs990974255 9:94809481-94809481 9:92047199-92047199 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.608G>A (p.Arg203His) SNV Uncertain significance 568972 rs778759719 9:94821543-94821543 9:92059261-92059261 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1328G>C (p.Ser443Thr) SNV Uncertain significance 581855 rs1463416767 9:94797092-94797092 9:92034810-92034810 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.910A>G (p.Ser304Gly) SNV Uncertain significance 566591 rs763065459 9:94809969-94809969 9:92047687-92047687 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.310G>A (p.Ala104Thr) SNV Uncertain significance 573814 rs143232538 9:94843196-94843196 9:92080914-92080914 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.139del (p.Gln47fs) deletion Uncertain significance 580492 rs772853294 9:94874763-94874763 9:92112481-92112481 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.457G>T (p.Ala153Ser) SNV Uncertain significance 576941 rs527406013 9:94830351-94830351 9:92068069-92068069 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4216G>A (p.Gly1406Arg) SNV Uncertain significance 577003 rs1568220739 19:10248585-10248585 19:10137909-10137909 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3498G>T (p.Gly1166=) SNV Uncertain significance 565384 rs1186008456 19:10251482-10251482 19:10140806-10140806 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2068G>A (p.Val690Ile) SNV Uncertain significance 582161 rs1568232526 19:10262475-10262475 19:10151799-10151799 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.803C>T (p.Pro268Leu) SNV Uncertain significance 566392 rs779634956 19:10279006-10279006 19:10168330-10168330 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4819G>A (p.Glu1607Lys) SNV Uncertain significance 578040 rs1568217087 19:10244938-10244938 19:10134262-10134262 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4741C>T (p.Leu1581Phe) SNV Uncertain significance 568452 rs1568218491 19:10246444-10246444 19:10135768-10135768 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2113C>T (p.Arg705Trp) SNV Uncertain significance 583276 rs766157757 19:10262430-10262430 19:10151754-10151754 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2108A>G (p.Gln703Arg) SNV Uncertain significance 574257 rs774333932 19:10262435-10262435 19:10151759-10151759 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1393C>G (p.Leu465Val) SNV Uncertain significance 577611 rs979325432 19:10267073-10267073 19:10156397-10156397 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1108A>C (p.Ile370Leu) SNV Uncertain significance 574166 rs1316802867 19:10270580-10270580 19:10159904-10159904 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.938G>A (p.Arg313Gln) SNV Uncertain significance 576722 rs775360871 19:10273413-10273413 19:10162737-10162737 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.526A>C (p.Lys176Gln) SNV Uncertain significance 573940 rs1020363356 19:10288011-10288011 19:10177335-10177335 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.301C>T (p.Arg101Trp) SNV Uncertain significance 577965 rs369196079 19:10291170-10291170 19:10180494-10180494 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4739G>A (p.Arg1580Gln) SNV Uncertain significance 576510 rs1568218498 19:10246446-10246446 19:10135770-10135770 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4181G>A (p.Arg1394Gln) SNV Uncertain significance 576529 rs757243017 19:10248620-10248620 19:10137944-10137944 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3901C>T (p.Arg1301Cys) SNV Uncertain significance 571637 rs755492225 19:10250399-10250399 19:10139723-10139723 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3830G>A (p.Arg1277Gln) SNV Uncertain significance 576485 rs774073234 19:10250470-10250470 19:10139794-10139794 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1983G>T (p.Glu661Asp) SNV Uncertain significance 572640 rs781764761 19:10265005-10265005 19:10154329-10154329 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.894_896del (p.Asp298del) deletion Uncertain significance 565553 rs1568241116 19:10274032-10274034 19:10163356-10163358 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.63C>A (p.Pro21=) SNV Uncertain significance 582524 rs1245074338 19:10305513-10305513 19:10194837-10194837 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3909G>A (p.Leu1303=) SNV Uncertain significance 566029 rs758806907 19:10250391-10250391 19:10139715-10139715 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3293G>A (p.Arg1098His) SNV Uncertain significance 568493 rs377078524 19:10252720-10252720 19:10142044-10142044 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2926C>T (p.Arg976Trp) SNV Uncertain significance 578489 rs1568226455 19:10254632-10254632 19:10143956-10143956 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2030A>G (p.Gln677Arg) SNV Uncertain significance 571853 rs1568232544 19:10262513-10262513 19:10151837-10151837 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.857T>C (p.Val286Ala) SNV Uncertain significance 573027 rs766504703 19:10277308-10277308 19:10166632-10166632 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.695C>T (p.Pro232Leu) SNV Uncertain significance 569266 rs758190156 19:10283839-10283839 19:10173163-10173163 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.302G>A (p.Arg101Gln) SNV Uncertain significance 579807 rs1401130665 19:10291169-10291169 19:10180493-10180493 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.229G>A (p.Gly77Ser) SNV Uncertain significance 571457 rs746687493 19:10291242-10291242 19:10180566-10180566 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1137-6C>T SNV Likely benign 682117 9:94800653-94800653 9:92038371-92038371 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1347G>A (p.Thr449=) SNV Likely benign 707093 9:94794822-94794822 9:92032540-92032540 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.569+10C>T SNV Likely benign 472280 rs781605215 19:10287958-10287958 19:10177282-10177282 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3975T>C (p.Thr1325=) SNV Likely benign 472273 rs768712864 19:10249255-10249255 19:10138579-10138579 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3831G>T (p.Arg1277=) SNV Likely benign 472272 rs1405376714 19:10250469-10250469 19:10139793-10139793 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2979C>T (p.Ser993=) SNV Likely benign 472268 rs771269343 19:10254579-10254579 19:10143903-10143903 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.889-6C>T SNV Likely benign 456605 rs753722633 9:94809996-94809996 9:92047714-92047714 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1137-10C>G SNV Likely benign 456601 rs1357342455 9:94800657-94800657 9:92038375-92038375 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.795C>T (p.Tyr265=) SNV Likely benign 456604 rs150756641 9:94812335-94812335 9:92050053-92050053 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1986C>T (p.Asn662=) SNV Likely benign 472265 rs377704053 19:10265002-10265002 19:10154326-10154326 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1833-4G>A SNV Likely benign 472264 rs753887750 19:10265159-10265159 19:10154483-10154483 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.687T>G (p.Val229=) SNV Likely benign 472281 rs61758429 19:10283847-10283847 19:10173171-10173171 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.81-3C>T SNV Likely benign 472282 rs76503110 19:10292756-10292756 19:10182080-10182080 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.609T>C (p.Arg203=) SNV Likely benign 512595 rs373314300 9:94821542-94821542 9:92059260-92059260 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1536G>A (p.Ala512=) SNV Likely benign 506791 rs764039807 19:10265689-10265689 19:10155013-10155013 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3186C>T (p.Asp1062=) SNV Likely benign 511323 rs138736029 19:10252827-10252827 19:10142151-10142151 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1020G>A (p.Ser340=) SNV Likely benign 526715 rs377526418 9:94809515-94809515 9:92047233-92047233 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3840C>G (p.Leu1280=) SNV Likely benign 539625 rs1436599621 19:10250460-10250460 19:10139784-10139784 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.393G>T (p.Gly131=) SNV Likely benign 526706 rs759028183 9:94842332-94842332 9:92080050-92080050 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.166-7C>T SNV Likely benign 526714 rs745971218 9:94871123-94871123 9:92108841-92108841 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.633T>C (p.His211=) SNV Likely benign 526712 rs1476764711 9:94821518-94821518 9:92059236-92059236 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4140C>T (p.Thr1380=) SNV Likely benign 539621 rs749741623 19:10248661-10248661 19:10137985-10137985 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2268T>C (p.Thr756=) SNV Likely benign 539617 rs374841430 19:10260642-10260642 19:10149966-10149966 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2475G>A (p.Ser825=) SNV Likely benign 539620 rs368834599 19:10260240-10260240 19:10149564-10149564 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1608C>T (p.Ser536=) SNV Likely benign 539615 rs553962731 19:10265617-10265617 19:10154941-10154941 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2625C>T (p.Asp875=) SNV Likely benign 539616 rs200928585 19:10259655-10259655 19:10148979-10148979 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1044-9T>C SNV Likely benign 539618 rs533403196 19:10270748-10270748 19:10160072-10160072 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.493+7G>A SNV Likely benign 539612 rs1177224966 19:10290856-10290856 19:10180180-10180180 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3960C>T (p.Tyr1320=) SNV Likely benign 706182 19:10249270-10249270 19:10138594-10138594 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3576G>A (p.Ala1192=) SNV Likely benign 707409 19:10250952-10250952 19:10140276-10140276 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1647C>T (p.Thr549=) SNV Likely benign 705119 19:10265447-10265447 19:10154771-10154771 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.390A>G (p.Lys130=) SNV Likely benign 539622 rs373499917 19:10291081-10291081 19:10180405-10180405 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1821G>A (p.Thr607=) SNV Likely benign 539626 rs371848582 19:10265273-10265273 19:10154597-10154597 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.452G>A (p.Arg151His) SNV Likely benign 705294 9:94830356-94830356 9:92068074-92068074 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.885C>T (p.Asp295=) SNV Likely benign 773955 19:10277280-10277280 19:10166604-10166604 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4056C>T (p.Pro1352=) SNV Likely benign 717863 19:10249174-10249174 19:10138498-10138498 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3261C>T (p.Cys1087=) SNV Likely benign 717991 19:10252752-10252752 19:10142076-10142076 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2709C>T (p.Asp903=) SNV Likely benign 717992 19:10259571-10259571 19:10148895-10148895 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1920C>T (p.Val640=) SNV Likely benign 709018 19:10265068-10265068 19:10154392-10154392 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1111G>A (p.Gly371Arg) SNV Likely benign 732005 9:94808306-94808306 9:92046024-92046024 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2976C>T (p.Tyr992=) SNV Likely benign 739272 19:10254582-10254582 19:10143906-10143906 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.445+10G>A SNV Likely benign 741650 19:10291016-10291016 19:10180340-10180340 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1110C>T (p.Cys370=) SNV Likely benign 757806 9:94808307-94808307 9:92046025-92046025 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4197A>C (p.Ala1399=) SNV Likely benign 765030 19:10248604-10248604 19:10137928-10137928 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3816C>T (p.Asp1272=) SNV Likely benign 760361 19:10250484-10250484 19:10139808-10139808 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.66C>T (p.Asp22=) SNV Likely benign 755571 19:10305510-10305510 19:10194834-10194834 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.649-5C>T SNV Likely benign 758667 19:10284586-10284586 19:10173910-10173910 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.225+9G>A SNV Likely benign 756269 19:10291445-10291445 19:10180769-10180769 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.261C>T (p.Gly87=) SNV Likely benign 197278 rs151283029 9:94843245-94843245 9:92080963-92080963 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) SNV Likely benign 4802 rs119482084 9:94800624-94800624 9:92038342-92038342 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3036C>G (p.Ile1012Met) SNV Likely benign 891808 19:10254522-10254522 19:10143846-10143846 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4185T>C (p.Asn1395=) SNV Likely benign 797059 19:10248616-10248616 19:10137940-10137940 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3098G>A (p.Arg1033Gln) SNV Likely benign 772485 19:10254460-10254460 19:10143784-10143784 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1082-5T>C SNV Likely benign 707120 9:94808340-94808340 9:92046058-92046058 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1061A>G (p.Asn354Ser) SNV Likely benign 771995 9:94809474-94809474 9:92047192-92047192 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4785C>T (p.Ala1595=) SNV Likely benign 766874 19:10244972-10244972 19:10134296-10134296 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1842G>A (p.Gln614=) SNV Likely benign 890057 19:10265146-10265146 19:10154470-10154470 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1149T>C (p.Tyr383=) SNV Likely benign 891872 19:10270539-10270539 19:10159863-10159863 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3116+11G>T SNV Likely benign 891807 19:10254431-10254431 19:10143755-10143755 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1932C>T (p.Phe644=) SNV Likely benign 327908 rs370444117 19:10265056-10265056 19:10154380-10154380 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3117-9C>T SNV Likely benign 381317 rs199546819 19:10252905-10252905 19:10142229-10142229 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2913C>T (p.Pro971=) SNV Likely benign 382837 rs780156725 19:10254645-10254645 19:10143969-10143969 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1053A>G (p.Lys351=) SNV Likely benign 381073 rs139355567 19:10270730-10270730 19:10160054-10160054 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1245T>C (p.Tyr415=) SNV Likely benign 389511 rs574479254 19:10270369-10270369 19:10159693-10159693 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.*445A>G SNV Likely benign 367538 rs7944 9:94794302-94794302 9:92032020-92032020 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1221A>G (p.Gln407=) SNV Likely benign 367545 rs201413090 9:94800563-94800563 9:92038281-92038281 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.*1226G>T SNV Likely benign 367527 rs562277733 9:94793521-94793521 9:92031239-92031239 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4894G>C (p.Asp1632His) SNV Likely benign 327886 rs147118268 19:10244348-10244348 19:10133672-10133672 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3696C>T (p.Asp1232=) SNV Likely benign 327892 rs145657360 19:10250832-10250832 19:10140156-10140156 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2260G>A (p.Val754Ile) SNV Likely benign 327903 rs762172122 19:10262079-10262079 19:10151403-10151403 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1861A>C (p.Arg621=) SNV Likely benign 327909 rs144567470 19:10265127-10265127 19:10154451-10154451 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2019+15G>C SNV Likely benign 327906 rs370849760 19:10264954-10264954 19:10154278-10154278 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1436A>C (p.Glu479Ala) SNV Likely benign 327911 rs374027926 19:10266585-10266585 19:10155909-10155909 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.*18C>A SNV Likely benign 327885 rs778467461 19:10244325-10244325 19:10133649-10133649 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2020-10C>T SNV Benign/Likely benign 327905 rs369373339 19:10262533-10262533 19:10151857-10151857 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3936C>T (p.Phe1312=) SNV Benign/Likely benign 327891 rs367637414 19:10250364-10250364 19:10139688-10139688 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2626G>A (p.Gly876Arg) SNV Benign/Likely benign 327899 rs62621087 19:10259654-10259654 19:10148978-10148978 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3408C>G (p.Pro1136=) SNV Benign/Likely benign 327894 rs144675407 19:10251572-10251572 19:10140896-10140896 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1255-7C>T SNV Benign/Likely benign 367543 rs7863487 9:94797172-94797172 9:92034890-92034890 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3413C>G (p.Ser1138Cys) SNV Benign/Likely benign 327893 rs201308454 19:10251567-10251567 19:10140891-10140891 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4146G>A (p.Thr1382=) SNV Benign/Likely benign 327889 rs184125970 19:10248655-10248655 19:10137979-10137979 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2472G>A (p.Thr824=) SNV Benign/Likely benign 327900 rs45484792 19:10260243-10260243 19:10149567-10149567 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1254+10C>T SNV Benign/Likely benign 367544 rs200704785 9:94800520-94800520 9:92038238-92038238 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.985-5C>T SNV Benign/Likely benign 367548 rs114380004 9:94809555-94809555 9:92047273-92047273 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.452G>T (p.Arg151Leu) SNV Benign/Likely benign 367550 rs45461899 9:94830356-94830356 9:92068074-92068074 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.*124A>G SNV Benign/Likely benign 367542 rs189582528 9:94794623-94794623 9:92032341-92032341 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1137-23GT[6] short repeat Benign/Likely benign 367546 rs147137401 9:94800660-94800661 9:92038378-92038379 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.768+12T>A SNV Benign/Likely benign 257543 rs189898346 19:10283754-10283754 19:10173078-10173078 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.493+8C>T SNV Benign/Likely benign 257542 rs138998574 19:10290855-10290855 19:10180179-10180179 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.387C>T (p.Gly129=) SNV Benign/Likely benign 367551 rs141265918 9:94842338-94842338 9:92080056-92080056 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2676C>T (p.Phe892=) SNV Benign/Likely benign 286502 rs139861062 19:10259604-10259604 19:10148928-10148928 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile) SNV Benign/Likely benign 287303 rs141292904 9:94794758-94794758 9:92032476-92032476 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1206G>C (p.Leu402=) SNV Benign/Likely benign 383726 rs147235870 19:10270408-10270408 19:10159732-10159732 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.925C>G (p.Leu309Val) SNV Benign/Likely benign 389881 rs61758430 19:10274003-10274003 19:10163327-10163327 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.981T>G (p.Ile327Met) SNV Benign/Likely benign 327918 rs61758431 19:10273370-10273370 19:10162694-10162694 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4503C>T (p.Cys1501=) SNV Benign/Likely benign 377790 rs149271718 19:10246950-10246950 19:10136274-10136274 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2010C>T (p.Gly670=) SNV Benign/Likely benign 388339 rs374476495 19:10264978-10264978 19:10154302-10154302 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1896G>A (p.Thr632=) SNV Benign/Likely benign 384833 rs202058239 19:10265092-10265092 19:10154416-10154416 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1722G>A (p.Val574=) SNV Benign/Likely benign 381309 rs140376680 19:10265372-10265372 19:10154696-10154696 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4599C>T (p.Leu1533=) SNV Benign/Likely benign 384796 rs145860233 19:10246854-10246854 19:10136178-10136178 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.387C>T (p.Pro129=) SNV Benign/Likely benign 327926 rs369470867 19:10291084-10291084 19:10180408-10180408 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.891+8C>T SNV Benign/Likely benign 193835 rs117294281 19:10277266-10277266 19:10166590-10166590 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.781-6A>G SNV Benign/Likely benign 139322 rs138268337 9:94812355-94812355 9:92050073-92050073 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln) SNV Benign/Likely benign 196998 rs142647321 19:10247822-10247822 19:10137146-10137146 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3669C>T (p.Arg1223=) SNV Benign/Likely benign 707638 19:10250859-10250859 19:10140183-10140183 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.501A>G (p.Gly167=) SNV Benign/Likely benign 526713 rs139980134 9:94830307-94830307 9:92068025-92068025 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4368C>T (p.Pro1456=) SNV Benign/Likely benign 472276 rs2229858 19:10247882-10247882 19:10137206-10137206 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4860C>T (p.Ala1620=) SNV Benign 539619 rs576877219 19:10244897-10244897 19:10134221-10134221 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1845G>A (p.Ala615=) SNV Benign 539611 rs761852984 19:10265143-10265143 19:10154467-10154467 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.654G>A (p.Glu218=) SNV Benign 703329 9:94821497-94821497 9:92059215-92059215 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1082-7C>A SNV Benign 771994 9:94808342-94808342 9:92046060-92046060 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.206G>A (p.Arg69His) SNV Benign 137132 rs61750053 19:10291473-10291473 19:10180797-10180797 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.979A>G (p.Ile327Val) SNV Benign 137133 rs2228612 19:10273372-10273372 19:10162696-10162696 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1632C>A (p.Ile544=) SNV Benign 137134 rs2228613 19:10265593-10265593 19:10154917-10154917 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.560+16G>C SNV Benign 139321 rs73512337 9:94830232-94830232 9:92067950-92067950 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3939C>T (p.Gly1313=) SNV Benign 257541 rs142903301 19:10250361-10250361 19:10139685-10139685 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1832+14A>G SNV Benign 257538 rs2114724 19:10265248-10265248 19:10154572-10154572 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1782A>G (p.Thr594=) SNV Benign 257537 rs721186 19:10265312-10265312 19:10154636-10154636 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1389A>G (p.Pro463=) SNV Benign 257536 rs2228611 19:10267077-10267077 19:10156401-10156401 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.*287T>C SNV Benign 891484 19:10244056-10244056 19:10133380-10133380 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.*490A>G SNV Benign 913420 9:94794257-94794257 9:92031975-92031975 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4077G>C (p.Val1359=) SNV Benign 771602 19:10249153-10249153 19:10138477-10138477 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4656+9G>A SNV Benign 703380 19:10246788-10246788 19:10136112-10136112 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2697G>A (p.Gln899=) SNV Benign 767406 19:10259583-10259583 19:10148907-10148907 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.358G>C (p.Val120Leu) SNV Benign 327927 rs75616428 19:10291113-10291113 19:10180437-10180437 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.2(DNMT1):c.*323C>G SNV Benign 369254 rs146694575 19:10244020-10244020 19:10133344-10133344 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1224C>T (p.Asn408=) SNV Benign 327912 rs199584370 19:10270390-10270390 19:10159714-10159714 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1095C>T (p.His365=) SNV Benign 379140 rs116502459 19:10270593-10270593 19:10159917-10159917 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.*483A>G SNV Benign 367536 rs541284488 9:94794264-94794264 9:92031982-92031982 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.*190A>C SNV Benign 367540 rs552433019 9:94794557-94794557 9:92032275-92032275 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.1136+12A>G SNV Benign 367547 rs76562923 9:94808269-94808269 9:92045987-92045987 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.*1009G>T SNV Benign 367531 rs559735773 9:94793738-94793738 9:92031456-92031456 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.290A>G (p.His97Arg) SNV Benign 257539 rs16999593 19:10291181-10291181 19:10180505-10180505 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2382-4C>T SNV Benign 327902 rs74505694 19:10260337-10260337 19:10149661-10149661 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.*1154T>C SNV Benign 367529 rs142740904 9:94793593-94793593 9:92031311-92031311 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.*1302T>G SNV Benign 367526 rs7035964 9:94793445-94793445 9:92031163-92031163 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.*1170T>C SNV Benign 367528 rs112076327 9:94793577-94793577 9:92031295-92031295 NRP041 Neuropathy, Hereditary Sensory, Type Ie SPTLC1 NM_006415.4(SPTLC1):c.*178T>A SNV Benign 367541 rs184220566 9:94794569-94794569 9:92032287-92032287 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.3351C>T (p.Asn1117=) SNV Benign 327896 rs534263445 19:10251824-10251824 19:10141148-10141148 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.633A>G (p.Glu211=) SNV Benign 327921 rs141264613 19:10286231-10286231 19:10175555-10175555 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1500C>T (p.Ala500=) SNV Benign 327910 rs75443147 19:10265725-10265725 19:10155049-10155049 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2463C>T (p.Leu821=) SNV Benign 327901 rs61750051 19:10260252-10260252 19:10149576-10149576 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.2117+13G>A SNV Benign 327904 rs112660071 19:10262413-10262413 19:10151737-10151737 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1009-8C>G SNV Benign 327916 rs766626750 19:10271102-10271102 19:10160426-10160426 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.996C>T (p.Asp332=) SNV Benign 327917 rs16999358 19:10273355-10273355 19:10162679-10162679 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.1944C>T (p.Phe648=) SNV Benign 327907 rs61750052 19:10265044-10265044 19:10154368-10154368 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.3(DNMT1):c.4657-15G>A SNV Benign 327887 rs201805582 19:10246543-10246543 19:10135867-10135867 NRP041 Neuropathy, Hereditary Sensory, Type Ie DNMT1 NM_001130823.2(DNMT1):c.-72C>T SNV Benign 327930 rs779334757 19:10305647-10305647 19:10194971-10194971 NRP041 Neuropathy, Hereditary Sensory, Type Ie NPC1 NM_000271.5(NPC1):c.973_974dup (p.Asp325fs) duplication Pathogenic 420124 rs886044580 18:21136558-21136559 18:23556594-23556595 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.881+1G>T SNV Pathogenic 437442 rs1555638409 18:21140194-21140194 18:23560230-23560230 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3517dup (p.Arg1173fs) duplication Pathogenic 471943 rs1555631982 18:21114483-21114484 18:23534519-23534520 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.423_424dup (p.Lys142fs) duplication Pathogenic 503633 rs773941375 18:21148825-21148826 18:23568861-23568862 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1171G>T (p.Glu391Ter) SNV Pathogenic 522757 rs1555637139 18:21136362-21136362 18:23556398-23556398 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3562del (p.Glu1188fs) deletion Pathogenic 552331 rs758231839 18:21114439-21114439 18:23534475-23534475 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1628del (p.Pro543fs) deletion Pathogenic 556403 rs1555635957 18:21131617-21131617 18:23551653-23551653 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.306T>G (p.Tyr102Ter) SNV Pathogenic 579540 rs751249367 18:21148944-21148944 18:23568980-23568980 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2096del (p.Val699fs) deletion Pathogenic 645173 18:21124342-21124342 18:23544378-23544378 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3477+2T>C SNV Pathogenic 657686 18:21115431-21115431 18:23535467-23535467 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2660C>T (p.Pro887Leu) SNV Pathogenic 803477 18:21119910-21119910 18:23539946-23539946 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2594C>T (p.Ser865Leu) SNV Pathogenic 803478 18:21120422-21120422 18:23540458-23540458 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3027del (p.Lys1010fs) deletion Pathogenic 807453 18:21118520-21118520 18:23538556-23538556 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3379_3380del (p.Met1127fs) deletion Pathogenic 858308 18:21115530-21115531 18:23535566-23535567 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1849dup (p.Ser617fs) duplication Pathogenic 847972 18:21125021-21125022 18:23545057-23545058 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1250_1253del (p.Lys417fs) deletion Pathogenic 841247 18:21136280-21136283 18:23556316-23556319 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1034del (p.Phe345fs) deletion Pathogenic 861914 18:21136499-21136499 18:23556535-23556535 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.81G>A (p.Trp27Ter) SNV Pathogenic 838982 18:21153515-21153515 18:23573551-23573551 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2783A>C (p.Gln928Pro) SNV Pathogenic 2957 rs28940897 18:21119787-21119787 18:23539823-23539823 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1133T>C (p.Val378Ala) SNV Pathogenic 2970 rs120074134 18:21136400-21136400 18:23556436-23556436 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) SNV Pathogenic 2967 rs80358259 18:21116700-21116700 18:23536736-23536736 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln) SNV Pathogenic 2968 rs120074132 18:21119357-21119357 18:23539393-23539393 NMN015 Niemann-Pick Disease, Type C1 NPC1 NPC1, IVS16, G-A, -82 SNV Pathogenic 2975 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3662del (p.Phe1221fs) deletion Pathogenic 2977 rs786200878 18:21113411-21113411 18:23533447-23533447 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.337T>C (p.Cys113Arg) SNV Pathogenic 2978 rs120074136 18:21148913-21148913 18:23568949-23568949 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3611_3614del (p.Leu1204fs) deletion Pathogenic 2979 rs786200879 18:21113459-21113462 18:23533495-23533498 NMN015 Niemann-Pick Disease, Type C1 NPC2 NM_006432.4(NPC2):c.58G>T (p.Glu20Ter) SNV Pathogenic 8477 rs80358260 14:74959920-74959920 14:74493217-74493217 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2324A>C (p.Gln775Pro) SNV Pathogenic 21134 rs80358253 18:21121319-21121319 18:23541355-23541355 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3160G>A (p.Ala1054Thr) SNV Pathogenic 21138 rs80358258 18:21116722-21116722 18:23536758-23536758 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2196dup (p.Pro733fs) duplication Pathogenic 92706 rs398123284 18:21123467-21123468 18:23543503-23543504 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1030del (p.Ser344fs) deletion Pathogenic 132888 rs483352883 18:21136503-21136503 18:23556539-23556539 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1502A>T (p.Asp501Val) SNV Pathogenic 132889 rs483352885 18:21134773-21134773 18:23554809-23554809 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1832A>G (p.Asp611Gly) SNV Pathogenic 132892 rs483352887 18:21125039-21125039 18:23545075-23545075 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2054T>C (p.Ile685Thr) SNV Pathogenic 132893 rs483352888 18:21124384-21124384 18:23544420-23544420 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2128C>T (p.Gln710Ter) SNV Pathogenic 132894 rs483352889 18:21124310-21124310 18:23544346-23544346 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2177G>C (p.Arg726Thr) SNV Pathogenic 132895 rs483352890 18:21123487-21123487 18:23543523-23543523 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2302dup (p.Val768fs) duplication Pathogenic 132897 rs483352881 18:21121340-21121341 18:23541376-23541377 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2366G>A (p.Arg789His) SNV Pathogenic 132898 rs483352891 18:21121277-21121277 18:23541313-23541313 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2795dup (p.Tyr932Ter) duplication Pathogenic 132899 rs483352884 18:21119774-21119775 18:23539810-23539811 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2912-3C>G SNV Pathogenic 132900 rs483352892 18:21118638-21118638 18:23538674-23538674 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.416dup (p.Asn140fs) duplication Pathogenic 132901 rs483352880 18:21148833-21148834 18:23568869-23568870 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu) SNV Pathogenic 181457 rs543206298 18:21119369-21119369 18:23539405-23539405 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln) SNV Pathogenic 188794 rs139751448 18:21136322-21136322 18:23556358-23556358 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3234_3237dup (p.Pro1080fs) duplication Pathogenic 242483 rs863224902 18:21116644-21116645 18:23536680-23536681 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2213C>A (p.Ser738Ter) SNV Pathogenic 242482 rs777286835 18:21123451-21123451 18:23543487-23543487 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3127A>G (p.Thr1043Ala) SNV Pathogenic 235096 rs876661319 18:21116755-21116755 18:23536791-23536791 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1819C>T (p.Arg607Ter) SNV Pathogenic 265495 rs377130051 18:21125052-21125052 18:23545088-23545088 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3246-2A>G SNV Pathogenic 281939 rs886042268 18:21115666-21115666 18:23535702-23535702 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2872C>T (p.Arg958Ter) SNV Pathogenic 287837 rs759826138 18:21119358-21119358 18:23539394-23539394 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3229C>T (p.Arg1077Ter) SNV Pathogenic 289257 rs750095738 18:21116653-21116653 18:23536689-23536689 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.852del (p.Phe284fs) deletion Pathogenic 371187 rs762124334 18:21140224-21140224 18:23560260-23560260 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.350_351AG[1] (p.Gln119fs) short repeat Pathogenic 370143 rs759075595 18:21148897-21148898 18:23568933-23568934 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1421C>T (p.Pro474Leu) SNV Pathogenic 374049 rs372445155 18:21134854-21134854 18:23554890-23554890 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile) SNV Pathogenic/Likely pathogenic 372775 rs757475924 18:21123463-21123463 18:23543499-23543499 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1990G>A (p.Val664Met) SNV Pathogenic/Likely pathogenic 370601 rs376213990 18:21124448-21124448 18:23544484-23544484 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1920del (p.His641fs) deletion Pathogenic/Likely pathogenic 281941 rs886042270 18:21124951-21124951 18:23544987-23544987 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2728G>A (p.Gly910Ser) SNV Pathogenic/Likely pathogenic 268187 rs768999208 18:21119842-21119842 18:23539878-23539878 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter) SNV Pathogenic/Likely pathogenic 188849 rs786204512 18:21119809-21119809 18:23539845-23539845 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1142G>A (p.Trp381Ter) SNV Pathogenic/Likely pathogenic 198702 rs794727897 18:21136391-21136391 18:23556427-23556427 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) SNV Pathogenic/Likely pathogenic 194810 rs372030650 18:21119949-21119949 18:23539985-23539985 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys) SNV Pathogenic/Likely pathogenic 188747 rs758902805 18:21113459-21113459 18:23533495-23533495 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3557G>A (p.Arg1186His) SNV Pathogenic/Likely pathogenic 189174 rs200444084 18:21114444-21114444 18:23534480-23534480 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2893C>T (p.Gln965Ter) SNV Pathogenic/Likely pathogenic 188956 rs786204586 18:21119337-21119337 18:23539373-23539373 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu) SNV Pathogenic/Likely pathogenic 188716 rs143124972 18:21119411-21119411 18:23539447-23539447 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu) SNV Pathogenic/Likely pathogenic 181455 rs369368181 18:21131617-21131617 18:23551653-23551653 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln) SNV Pathogenic/Likely pathogenic 132890 rs483352886 18:21134722-21134722 18:23554758-23554758 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr) SNV Pathogenic/Likely pathogenic 2974 rs80358252 18:21141425-21141425 18:23561461-23561461 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg) SNV Pathogenic/Likely pathogenic 21137 rs80358254 18:21118573-21118573 18:23538609-23538609 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys) SNV Pathogenic/Likely pathogenic 2976 rs28942108 18:21118615-21118615 18:23538651-23538651 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) SNV Pathogenic/Likely pathogenic 2969 rs80358254 18:21118573-21118573 18:23538609-23538609 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2848G>A (p.Val950Met) SNV Pathogenic/Likely pathogenic 2971 rs120074135 18:21119382-21119382 18:23539418-23539418 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val) SNV Pathogenic/Likely pathogenic 2972 rs28942107 18:21116778-21116778 18:23536814-23536814 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3467A>G (p.Asn1156Ser) SNV Pathogenic/Likely pathogenic 2959 rs28942105 18:21115443-21115443 18:23535479-23535479 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn) SNV Pathogenic/Likely pathogenic 552987 rs1261939149 18:21119388-21119388 18:23539424-23539424 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.449_450AG[1] (p.Ser151fs) short repeat Pathogenic/Likely pathogenic 558159 rs749012588 18:21148797-21148799 18:23568834-23568835 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1554-1009G>A SNV Pathogenic/Likely pathogenic 553804 rs1055204017 18:21132700-21132700 18:23552736-23552736 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2973_2974delinsAT (p.Gly992Trp) indel Pathogenic/Likely pathogenic 539309 rs1555632971 18:21118573-21118574 18:23538609-23538610 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg) SNV Pathogenic/Likely pathogenic 505018 rs758902805 18:21113459-21113459 18:23533495-23533495 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3742_3745del (p.Leu1248fs) deletion Pathogenic/Likely pathogenic 487441 rs774943545 18:21113328-21113331 18:23533364-23533367 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.721C>T (p.Gln241Ter) SNV Pathogenic/Likely pathogenic 422340 rs1064795718 18:21140355-21140355 18:23560391-23560391 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2713C>T (p.Gln905Ter) SNV Pathogenic/Likely pathogenic 417625 rs917070773 18:21119857-21119857 18:23539893-23539893 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs) deletion Pathogenic/Likely pathogenic 419641 rs1064794009 18:21113338-21113339 18:23533374-23533375 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs) duplication Pathogenic/Likely pathogenic 419323 rs750323164 18:21114427-21114428 18:23534463-23534464 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2604+1G>A SNV Pathogenic/Likely pathogenic 501356 rs1555633454 18:21120411-21120411 18:23540447-23540447 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3503G>A (p.Cys1168Tyr) SNV Likely pathogenic 502274 rs1555631998 18:21114498-21114498 18:23534534-23534534 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2670C>G (p.Tyr890Ter) SNV Likely pathogenic 495788 rs780592540 18:21119900-21119900 18:23539936-23539936 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2912-2A>C SNV Likely pathogenic 471942 rs1555632994 18:21118637-21118637 18:23538673-23538673 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2978dup (p.Asp994fs) duplication Likely pathogenic 553225 rs775915490 18:21118568-21118569 18:23538604-23538605 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2712del (p.Gln905fs) deletion Likely pathogenic 557930 rs1555633309 18:21119858-21119858 18:23539894-23539894 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2625T>G (p.Tyr875Ter) SNV Likely pathogenic 547890 rs1555633361 18:21119945-21119945 18:23539981-23539981 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3634G>T (p.Val1212Leu) SNV Likely pathogenic 558706 rs753419933 18:21113439-21113439 18:23533475-23533475 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3592-1G>C SNV Likely pathogenic 550558 rs1555631653 18:21113482-21113482 18:23533518-23533518 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3591+2T>C SNV Likely pathogenic 551545 rs1555631888 18:21114408-21114408 18:23534444-23534444 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3535_3538delinsTTT (p.Met1179fs) indel Likely pathogenic 557570 rs1555631957 18:21114463-21114466 18:23534499-23534502 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3259T>C (p.Phe1087Leu) SNV Likely pathogenic 555143 rs746715353 18:21115651-21115651 18:23535687-23535687 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3754+1G>T SNV Likely pathogenic 552085 rs1555631571 18:21113318-21113318 18:23533354-23533354 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3666_3672del (p.Gln1222fs) deletion Likely pathogenic 558037 rs1555631610 18:21113401-21113407 18:23533437-23533443 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3612_3613delinsG (p.Thr1205fs) indel Likely pathogenic 556189 rs1555631642 18:21113460-21113461 18:23533496-23533497 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3G>A (p.Met1Ile) SNV Likely pathogenic 551469 rs1555645630 18:21166305-21166305 18:23586341-23586341 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2072C>T (p.Pro691Leu) SNV Likely pathogenic 552803 rs1555634422 18:21124366-21124366 18:23544402-23544402 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3754+1G>A SNV Likely pathogenic 550981 rs1555631571 18:21113318-21113318 18:23533354-23533354 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2911+1del deletion Likely pathogenic 557355 rs1555633118 18:21119318-21119318 18:23539354-23539354 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2683dup (p.Glu895fs) duplication Likely pathogenic 551834 rs1555633326 18:21119886-21119887 18:23539922-23539923 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.414_435dup (p.Tyr146fs) duplication Likely pathogenic 556509 rs1555641027 18:21148814-21148815 18:23568850-23568851 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.425_428del (p.Lys142fs) deletion Likely pathogenic 554442 rs770580241 18:21148822-21148825 18:23568858-23568861 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2963_2964AG[1] (p.Arg989fs) short repeat Likely pathogenic 555442 rs1555632977 18:21118581-21118582 18:23538617-23538618 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2780C>T (p.Ala927Val) SNV Likely pathogenic 552715 rs753768576 18:21119790-21119790 18:23539826-23539826 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3754+1G>C SNV Likely pathogenic 557711 rs1555631571 18:21113318-21113318 18:23533354-23533354 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1133_1161del (p.Val378fs) deletion Likely pathogenic 550364 rs1555637164 18:21136372-21136400 18:23556408-23556436 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1948-2A>T SNV Likely pathogenic 554364 rs1555634513 18:21124492-21124492 18:23544528-23544528 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1947+2T>A SNV Likely pathogenic 555492 rs764472245 18:21124922-21124922 18:23544958-23544958 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1947+1G>A SNV Likely pathogenic 553366 rs1555634690 18:21124923-21124923 18:23544959-23544959 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2131-2_2131del deletion Likely pathogenic 557400 rs1555634236 18:21123533-21123535 18:23543569-23543571 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2447_2450GTTT[1] (p.Leu817fs) short repeat Likely pathogenic 550101 rs1555633637 18:21121092-21121095 18:23541128-23541131 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.58-2A>T SNV Likely pathogenic 551018 rs1555642347 18:21153540-21153540 18:23573576-23573576 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3461T>A (p.Leu1154Ter) SNV Likely pathogenic 557189 rs1555632182 18:21115449-21115449 18:23535485-23535485 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3042-1G>A SNV Likely pathogenic 552643 rs771806960 18:21116841-21116841 18:23536877-23536877 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2907_2908dup (p.Ser970fs) duplication Likely pathogenic 553623 rs761910746 18:21119321-21119322 18:23539357-23539358 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp) SNV Likely pathogenic 550874 rs377515417 18:21134723-21134723 18:23554759-23554759 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1327-1G>A SNV Likely pathogenic 554606 rs1057516813 18:21134949-21134949 18:23554985-23554985 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.852dup (p.Gly285fs) duplication Likely pathogenic 554086 rs762124334 18:21140223-21140224 18:23560259-23560260 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.631+2T>C SNV Likely pathogenic 557600 rs1555638833 18:21141322-21141322 18:23561358-23561358 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.144_145insT (p.Lys49Ter) insertion Likely pathogenic 552698 rs1555642296 18:21153451-21153452 18:23573487-23573488 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr) SNV Likely pathogenic 568770 rs765729815 18:21115459-21115459 18:23535495-23535495 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1948-1G>A SNV Likely pathogenic 557054 rs1555634508 18:21124491-21124491 18:23544527-23544527 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.4(NPC1):c.3044_3097del deletion Likely pathogenic 2963 rs797044431 18:21116842-21116842 18:23536878-23536878 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1918G>A (p.Gly640Arg) SNV Likely pathogenic 842695 18:21124953-21124953 18:23544989-23544989 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3591+1G>A SNV Likely pathogenic 2973 rs786200877 18:21114409-21114409 18:23534445-23534445 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2911+2del deletion Likely pathogenic 847952 18:21119317-21119317 18:23539353-23539353 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.180+1G>C SNV Likely pathogenic 838929 18:21153415-21153415 18:23573451-23573451 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys) SNV Likely pathogenic 863837 18:21136368-21136368 18:23556404-23556404 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3590C>T (p.Ser1197Phe) SNV Likely pathogenic 834088 18:21114411-21114411 18:23534447-23534447 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3507C>G (p.Ser1169Arg) SNV Likely pathogenic 834089 18:21114494-21114494 18:23534530-23534530 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3597del (p.Phe1199fs) deletion Likely pathogenic 852244 18:21113476-21113476 18:23533512-23533512 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.114_122del (p.Lys38_Tyr40del) deletion Likely pathogenic 803479 18:21153474-21153482 18:23573510-23573518 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3410dup (p.Asn1137fs) duplication Likely pathogenic 666978 18:21115499-21115500 18:23535535-23535536 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1312C>T (p.Gln438Ter) SNV Likely pathogenic 666979 18:21136221-21136221 18:23556257-23556257 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.4(NPC1):c.3243_3755-94del deletion Likely pathogenic 633341 18:21112342-21116639 18:23532378-23536675 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1800del (p.Ile601fs) deletion Likely pathogenic 132891 rs483352879 18:21125071-21125071 18:23545107-23545107 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2230_2231del (p.Val744fs) deletion Likely pathogenic 132896 rs483352882 18:21123433-21123434 18:23543469-23543470 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln) SNV Likely pathogenic 189117 rs786204714 18:21119429-21119429 18:23539465-23539465 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2764C>T (p.Gln922Ter) SNV Likely pathogenic 189033 rs786204641 18:21119806-21119806 18:23539842-23539842 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter) SNV Likely pathogenic 188769 rs786204455 18:21116707-21116707 18:23536743-23536743 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1947+2T>G SNV Likely pathogenic 189181 rs764472245 18:21124922-21124922 18:23544958-23544958 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1761del (p.Phe587fs) deletion Likely pathogenic 371343 rs1057517197 18:21125110-21125110 18:23545146-23545146 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1339C>T (p.Gln447Ter) SNV Likely pathogenic 371192 rs1057517077 18:21134936-21134936 18:23554972-23554972 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1327-1G>C SNV Likely pathogenic 370848 rs1057516813 18:21134949-21134949 18:23554985-23554985 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1033_1034del (p.Phe345fs) deletion Likely pathogenic 371030 rs1057516950 18:21136499-21136500 18:23556535-23556536 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.956-1G>A SNV Likely pathogenic 370542 rs756853895 18:21136578-21136578 18:23556614-23556614 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.629del (p.Phe209_Ser210insTer) deletion Likely pathogenic 370135 rs1057516260 18:21141326-21141326 18:23561362-23561362 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.500C>G (p.Ser167Ter) SNV Likely pathogenic 370794 rs752409181 18:21141455-21141455 18:23561491-23561491 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.433C>T (p.Gln145Ter) SNV Likely pathogenic 370763 rs1057516749 18:21148817-21148817 18:23568853-23568853 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.397del (p.Val133fs) deletion Likely pathogenic 371329 rs1057517186 18:21148853-21148853 18:23568889-23568889 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.395del (p.Pro132fs) deletion Likely pathogenic 370404 rs1057516462 18:21148855-21148855 18:23568891-23568891 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1A>G (p.Met1Val) SNV Likely pathogenic 371098 rs1057517005 18:21166307-21166307 18:23586343-23586343 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr) SNV Likely pathogenic 372435 rs778878523 18:21115485-21115485 18:23535521-23535521 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1711del (p.Tyr571fs) deletion Likely pathogenic 371675 rs1057517455 18:21128016-21128016 18:23548052-23548052 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3566A>G (p.Glu1189Gly) SNV Likely pathogenic 371037 rs369098773 18:21114435-21114435 18:23534471-23534471 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3417_3423del (p.Phe1139fs) deletion Likely pathogenic 370636 rs1057516647 18:21115487-21115493 18:23535523-23535529 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3325del (p.Ile1109fs) deletion Likely pathogenic 371282 rs1057517149 18:21115585-21115585 18:23535621-23535621 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3309dup (p.Val1104fs) duplication Likely pathogenic 371340 rs1057517194 18:21115600-21115601 18:23535636-23535637 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3056A>G (p.Tyr1019Cys) SNV Likely pathogenic 371419 rs781261962 18:21116826-21116826 18:23536862-23536862 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2775del (p.Asn925fs) deletion Likely pathogenic 370581 rs1057516603 18:21119795-21119795 18:23539831-23539831 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2474A>G (p.Tyr825Cys) SNV Likely pathogenic 370184 rs550562774 18:21121072-21121072 18:23541108-23541108 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.839del (p.Leu280fs) deletion Likely pathogenic 374342 rs1057518711 18:21140237-21140237 18:23560273-23560273 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.57+4A>G SNV Conflicting interpretations of pathogenicity 374748 rs1057519229 18:21166247-21166247 18:23586283-23586283 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3755-16TC[5] short repeat Conflicting interpretations of pathogenicity 326248 rs760529810 18:21112253-21112254 18:23532289-23532290 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3321C>A (p.Gly1107=) SNV Conflicting interpretations of pathogenicity 326250 rs376210355 18:21115589-21115589 18:23535625-23535625 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3312G>A (p.Val1104=) SNV Conflicting interpretations of pathogenicity 326251 rs746476066 18:21115598-21115598 18:23535634-23535634 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) SNV Conflicting interpretations of pathogenicity 326253 rs150334966 18:21118536-21118536 18:23538572-23538572 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2849T>G (p.Val950Gly) SNV Conflicting interpretations of pathogenicity 372774 rs1057517978 18:21119381-21119381 18:23539417-23539417 NMN015 Niemann-Pick Disease, Type C1 NPC2 NM_006432.4(NPC2):c.363+7G>A SNV Conflicting interpretations of pathogenicity 314238 rs200463204 14:74951111-74951111 14:74484408-74484408 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.688_693del (p.Ser230_Val231del) deletion Conflicting interpretations of pathogenicity 290134 rs758687942 18:21140383-21140388 18:23560419-23560424 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3012G>A (p.Ser1004=) SNV Conflicting interpretations of pathogenicity 326252 rs182413311 18:21118535-21118535 18:23538571-23538571 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2775C>T (p.Asn925=) SNV Conflicting interpretations of pathogenicity 326257 rs147419225 18:21119795-21119795 18:23539831-23539831 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2501T>C (p.Met834Thr) SNV Conflicting interpretations of pathogenicity 326260 rs373435883 18:21121045-21121045 18:23541081-23541081 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1947+14_1947+15insC insertion Conflicting interpretations of pathogenicity 326267 rs201170241 18:21124909-21124910 18:23544945-23544946 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1947+8G>C SNV Conflicting interpretations of pathogenicity 92705 rs66620415 18:21124916-21124916 18:23544952-23544952 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) SNV Conflicting interpretations of pathogenicity 211683 rs55724504 18:21114440-21114440 18:23534476-23534476 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser) SNV Conflicting interpretations of pathogenicity 252475 rs34084984 18:21119348-21119348 18:23539384-23539384 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser) SNV Conflicting interpretations of pathogenicity 255696 rs141440861 18:21116665-21116665 18:23536701-23536701 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.66A>G (p.Ser22=) SNV Conflicting interpretations of pathogenicity 255701 rs144415945 18:21153530-21153530 18:23573566-23573566 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1947+5G>C SNV Conflicting interpretations of pathogenicity 281945 rs770321568 18:21124919-21124919 18:23544955-23544955 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3717C>T (p.His1239=) SNV Conflicting interpretations of pathogenicity 282371 rs34624018 18:21113356-21113356 18:23533392-23533392 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1542G>A (p.Leu514=) SNV Conflicting interpretations of pathogenicity 289739 rs371076898 18:21134733-21134733 18:23554769-23554769 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2246-5G>A SNV Conflicting interpretations of pathogenicity 288106 rs77289650 18:21121402-21121402 18:23541438-23541438 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1011G>T (p.Arg337=) SNV Conflicting interpretations of pathogenicity 288150 rs147795644 18:21136522-21136522 18:23556558-23556558 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2257G>A (p.Val753Met) SNV Conflicting interpretations of pathogenicity 287771 rs146874573 18:21121386-21121386 18:23541422-23541422 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) deletion Conflicting interpretations of pathogenicity 188932 rs756815030 18:21118574-21118575 18:23538610-23538611 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3493G>A (p.Val1165Met) SNV Conflicting interpretations of pathogenicity 195723 rs748862167 18:21114508-21114508 18:23534544-23534544 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3528G>A (p.Thr1176=) SNV Conflicting interpretations of pathogenicity 195724 rs150602021 18:21114473-21114473 18:23534509-23534509 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2514+7G>A SNV Conflicting interpretations of pathogenicity 597592 rs764548800 18:21121025-21121025 18:23541061-23541061 NMN015 Niemann-Pick Disease, Type C1 NPC2 NM_006432.5(NPC2):c.273T>C (p.Asp91=) SNV Conflicting interpretations of pathogenicity 715373 14:74951208-74951208 14:74484505-74484505 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1479C>T (p.Ser493=) SNV Conflicting interpretations of pathogenicity 741163 18:21134796-21134796 18:23554832-23554832 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2130+10C>G SNV Conflicting interpretations of pathogenicity 754325 18:21124298-21124298 18:23544334-23544334 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) SNV Conflicting interpretations of pathogenicity 92715 rs55680026 18:21140411-21140411 18:23560447-23560447 NMN015 Niemann-Pick Disease, Type C1 ACYP1 NM_006432.4(NPC2):c.441+1G>A SNV Conflicting interpretations of pathogenicity 100734 rs140130028 14:74947404-74947404 14:74480701-74480701 NMN015 Niemann-Pick Disease, Type C1 NPC2 NM_006432.4(NPC2):c.441+1G>A SNV Conflicting interpretations of pathogenicity 100734 rs140130028 14:74947404-74947404 14:74480701-74480701 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) SNV Conflicting interpretations of pathogenicity 92709 rs145145840 18:21116684-21116684 18:23536720-23536720 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) SNV Conflicting interpretations of pathogenicity 92711 rs151125564 18:21115579-21115579 18:23535615-23535615 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe) SNV Conflicting interpretations of pathogenicity 92712 rs34226296 18:21115567-21115567 18:23535603-23535603 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) SNV Conflicting interpretations of pathogenicity 21142 rs80358251 18:21140367-21140367 18:23560403-23560403 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) SNV Conflicting interpretations of pathogenicity 2966 rs80358257 18:21118528-21118528 18:23538564-23538564 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) SNV Conflicting interpretations of pathogenicity 2960 rs80358254 18:21118573-21118573 18:23538609-23538609 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met) SNV Conflicting interpretations of pathogenicity 2958 rs28942104 18:21116775-21116775 18:23536811-23536811 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2292G>A (p.Ala764=) SNV Conflicting interpretations of pathogenicity 593560 rs772565983 18:21121351-21121351 18:23541387-23541387 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3732C>T (p.Leu1244=) SNV Conflicting interpretations of pathogenicity 593756 rs1621962 18:21113341-21113341 18:23533377-23533377 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3816C>T (p.Arg1272=) SNV Conflicting interpretations of pathogenicity 593992 rs375797728 18:21112187-21112187 18:23532223-23532223 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3246-8C>T SNV Conflicting interpretations of pathogenicity 594711 rs145227129 18:21115672-21115672 18:23535708-23535708 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1947+7_1947+8insCGG insertion Conflicting interpretations of pathogenicity 594945 rs1555634618 18:21124916-21124917 18:23544952-23544953 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.471C>T (p.Tyr157=) SNV Conflicting interpretations of pathogenicity 596038 rs145101354 18:21141484-21141484 18:23561520-23561520 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1947+7_1947+8insCGGGG insertion Conflicting interpretations of pathogenicity 539314 rs1555634618 18:21124916-21124917 18:23544952-23544953 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr) SNV Conflicting interpretations of pathogenicity 547997 rs1338658857 18:21115629-21115629 18:23535665-23535665 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu) SNV Conflicting interpretations of pathogenicity 539313 rs1555637232 18:21136463-21136463 18:23556499-23556499 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr) SNV Conflicting interpretations of pathogenicity 539310 rs1555636659 18:21134839-21134839 18:23554875-23554875 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.810_812CAT[1] (p.Ile271del) short repeat Conflicting interpretations of pathogenicity 449503 rs1243863645 18:21140261-21140263 18:23560297-23560299 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.410C>T (p.Thr137Met) SNV Conflicting interpretations of pathogenicity 449504 rs372947142 18:21148840-21148840 18:23568876-23568876 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1301C>T (p.Pro434Leu) SNV Conflicting interpretations of pathogenicity 429322 rs774333145 18:21136232-21136232 18:23556268-23556268 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp) SNV Conflicting interpretations of pathogenicity 499939 rs1298238512 18:21136323-21136323 18:23556359-23556359 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1431G>A (p.Thr477=) SNV Conflicting interpretations of pathogenicity 500155 rs375307057 18:21134844-21134844 18:23554880-23554880 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3492C>T (p.Ser1164=) SNV Conflicting interpretations of pathogenicity 500946 rs371160947 18:21114509-21114509 18:23534545-23534545 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser) SNV Conflicting interpretations of pathogenicity 500953 rs138184115 18:21131684-21131684 18:23551720-23551720 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1819C>A (p.Arg607=) SNV Conflicting interpretations of pathogenicity 501524 rs377130051 18:21125052-21125052 18:23545088-23545088 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2428G>T (p.Val810Phe) SNV Conflicting interpretations of pathogenicity 499327 rs145362908 18:21121118-21121118 18:23541154-23541154 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1947+9_1947+10insGGAG insertion Conflicting interpretations of pathogenicity 499337 rs772150994 18:21124914-21124915 18:23544950-23544951 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3559G>A (p.Ala1187Thr) SNV Uncertain significance 499348 rs762517273 18:21114442-21114442 18:23534478-23534478 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1301C>G (p.Pro434Arg) SNV Uncertain significance 502276 rs774333145 18:21136232-21136232 18:23556268-23556268 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.544G>A (p.Asp182Asn) SNV Uncertain significance 502363 rs201021988 18:21141411-21141411 18:23561447-23561447 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3558C>T (p.Arg1186=) SNV Uncertain significance 502703 rs141659629 18:21114443-21114443 18:23534479-23534479 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1947+10G>T SNV Uncertain significance 495787 rs71534236 18:21124914-21124914 18:23544950-23544950 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu) SNV Uncertain significance 499258 rs190298665 18:21120492-21120492 18:23540528-23540528 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2692G>A (p.Asp898Asn) SNV Uncertain significance 440008 rs528841924 18:21119878-21119878 18:23539914-23539914 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1480G>A (p.Val494Met) SNV Uncertain significance 493233 rs199812609 18:21134795-21134795 18:23554831-23554831 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1506_1508CTT[1] (p.Phe504del) short repeat Uncertain significance 471941 rs1555636605 18:21134764-21134766 18:23554800-23554802 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3821G>A (p.Arg1274Gln) SNV Uncertain significance 539311 rs151305963 18:21112182-21112182 18:23532218-23532218 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn) SNV Uncertain significance 539312 rs1428599096 18:21119397-21119397 18:23539433-23539433 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2141G>A (p.Arg714His) SNV Uncertain significance 546815 rs375047023 18:21123523-21123523 18:23543559-23543559 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro) SNV Uncertain significance 550833 rs893564568 18:21116748-21116748 18:23536784-23536784 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3781_3783del (p.Cys1261del) deletion Uncertain significance 551620 rs1482228628 18:21112220-21112222 18:23532256-23532258 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3592-7_3592-3del deletion Uncertain significance 558202 rs760935117 18:21113484-21113488 18:23533520-23533524 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3769_3772del (p.Lys1257fs) deletion Uncertain significance 552951 rs1555631176 18:21112231-21112234 18:23532267-23532270 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3754+3A>C SNV Uncertain significance 555325 rs1208252513 18:21113316-21113316 18:23533352-23533352 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3778del (p.Ser1260fs) deletion Uncertain significance 557816 rs1555631169 18:21112225-21112225 18:23532261-23532261 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2597T>C (p.Met866Thr) SNV Uncertain significance 556263 rs1181604094 18:21120419-21120419 18:23540455-23540455 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2335T>C (p.Phe779Leu) SNV Uncertain significance 557126 rs1555633722 18:21121308-21121308 18:23541344-23541344 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys) SNV Uncertain significance 557024 rs1555632003 18:21114501-21114501 18:23534537-23534537 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2018G>T (p.Gly673Val) SNV Uncertain significance 554148 rs1555634452 18:21124420-21124420 18:23544456-23544456 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3130G>A (p.Val1044Met) SNV Uncertain significance 597412 rs767343173 18:21116752-21116752 18:23536788-23536788 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3548G>A (p.Arg1183His) SNV Uncertain significance 594562 rs148035987 18:21114453-21114453 18:23534489-23534489 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1766A>G (p.Asn589Ser) SNV Uncertain significance 593806 rs147021046 18:21125105-21125105 18:23545141-23545141 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1836A>C (p.Glu612Asp) SNV Uncertain significance 555407 rs1555634739 18:21125035-21125035 18:23545071-23545071 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1223T>C (p.Leu408Pro) SNV Uncertain significance 561067 rs1567965313 18:21136310-21136310 18:23556346-23556346 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3205A>G (p.Met1069Val) SNV Uncertain significance 571915 rs1567946736 18:21116677-21116677 18:23536713-23536713 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.180G>T (p.Gln60His) SNV Uncertain significance 593342 rs145666943 18:21153416-21153416 18:23573452-23573452 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys) SNV Uncertain significance 566223 rs745777805 18:21125028-21125028 18:23545064-23545064 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.350A>G (p.Gln117Arg) SNV Uncertain significance 581349 rs1567977251 18:21148900-21148900 18:23568936-23568936 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1156A>G (p.Ser386Gly) SNV Uncertain significance 553470 rs1192824648 18:21136377-21136377 18:23556413-23556413 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.901_912dup (p.Glu301_Pro304dup) duplication Uncertain significance 554149 rs1555637509 18:21137123-21137124 18:23557159-23557160 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3772del (p.Ala1258fs) deletion Uncertain significance 557536 rs1555631174 18:21112231-21112231 18:23532267-23532267 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2365C>T (p.Arg789Cys) SNV Uncertain significance 554973 rs1555633697 18:21121278-21121278 18:23541314-23541314 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2234C>A (p.Ala745Glu) SNV Uncertain significance 556699 rs752386083 18:21123430-21123430 18:23543466-23543466 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys) SNV Uncertain significance 553800 rs202140203 18:21124970-21124970 18:23545006-23545006 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.27_29CCT[2] (p.Leu15del) short repeat Uncertain significance 556057 rs1555645598 18:21166273-21166275 18:23586309-23586311 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1327-2dup duplication Uncertain significance 551271 rs1555636712 18:21134949-21134950 18:23554985-23554986 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3034G>T (p.Gly1012Cys) SNV Uncertain significance 557421 rs1555632941 18:21118513-21118513 18:23538549-23538549 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1526A>C (p.Tyr509Ser) SNV Uncertain significance 554002 rs1190383931 18:21134749-21134749 18:23554785-23554785 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1162G>C (p.Ala388Pro) SNV Uncertain significance 553090 rs1555637157 18:21136371-21136371 18:23556407-23556407 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2987T>G (p.Met996Arg) SNV Uncertain significance 554174 rs1555632958 18:21118560-21118560 18:23538596-23538596 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2224G>A (p.Glu742Lys) SNV Uncertain significance 557565 rs1555634202 18:21123440-21123440 18:23543476-23543476 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.198_200CTT[1] (p.Phe68del) short repeat Uncertain significance 551273 rs1555641909 18:21152122-21152124 18:23572158-23572160 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.7G>A (p.Ala3Thr) SNV Uncertain significance 555997 rs752896980 18:21166301-21166301 18:23586337-23586337 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1978G>A (p.Gly660Ser) SNV Uncertain significance 558673 rs1555634490 18:21124460-21124460 18:23544496-23544496 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1686G>A (p.Val562=) SNV Uncertain significance 554281 rs1555635272 18:21128041-21128041 18:23548077-23548077 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2903A>G (p.Asn968Ser) SNV Uncertain significance 554989 rs773767253 18:21119327-21119327 18:23539363-23539363 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3745A>G (p.Ser1249Gly) SNV Uncertain significance 555483 rs1415921261 18:21113328-21113328 18:23533364-23533364 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3555_3563dup (p.Arg1186_Glu1188dup) duplication Uncertain significance 551716 rs1555631911 18:21114437-21114438 18:23534473-23534474 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3560C>T (p.Ala1187Val) SNV Uncertain significance 556002 rs113371321 18:21114441-21114441 18:23534477-23534477 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3467A>T (p.Asn1156Ile) SNV Uncertain significance 552768 rs28942105 18:21115443-21115443 18:23535479-23535479 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) SNV Uncertain significance 554990 rs781065429 18:21134924-21134924 18:23554960-23554960 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1138C>T (p.Leu380Phe) SNV Uncertain significance 554968 rs1435915496 18:21136395-21136395 18:23556431-23556431 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.551G>A (p.Cys184Tyr) SNV Uncertain significance 551548 rs1555638882 18:21141404-21141404 18:23561440-23561440 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3263A>G (p.Tyr1088Cys) SNV Uncertain significance 2964 rs28942106 18:21115647-21115647 18:23535683-23535683 NMN015 Niemann-Pick Disease, Type C1 NPC2 NM_006432.5(NPC2):c.*115C>T SNV Uncertain significance 888512 14:74946862-74946862 14:74480159-74480159 NMN015 Niemann-Pick Disease, Type C1 NPC2 NM_006432.5(NPC2):c.*86G>A SNV Uncertain significance 888513 14:74946891-74946891 14:74480188-74480188 NMN015 Niemann-Pick Disease, Type C1 NPC2 NM_006432.5(NPC2):c.56C>A (p.Ala19Asp) SNV Uncertain significance 884292 14:74959922-74959922 14:74493219-74493219 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.*494G>T SNV Uncertain significance 891596 18:21111672-21111672 18:23531708-23531708 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.*328A>C SNV Uncertain significance 891597 18:21111838-21111838 18:23531874-23531874 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.*327C>T SNV Uncertain significance 891598 18:21111839-21111839 18:23531875-23531875 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.*161C>T SNV Uncertain significance 891853 18:21112005-21112005 18:23532041-23532041 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.*129T>G SNV Uncertain significance 891854 18:21112037-21112037 18:23532073-23532073 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.*94G>A SNV Uncertain significance 891855 18:21112072-21112072 18:23532108-23532108 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3814C>T (p.Arg1272Cys) SNV Uncertain significance 891857 18:21112189-21112189 18:23532225-23532225 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3667A>G (p.Ile1223Val) SNV Uncertain significance 889411 18:21113406-21113406 18:23533442-23533442 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3052G>A (p.Ala1018Thr) SNV Uncertain significance 890671 18:21116830-21116830 18:23536866-23536866 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2614A>G (p.Met872Val) SNV Uncertain significance 891921 18:21119956-21119956 18:23539992-23539992 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2413G>C (p.Glu805Gln) SNV Uncertain significance 889470 18:21121133-21121133 18:23541169-23541169 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2337C>T (p.Phe779=) SNV Uncertain significance 889471 18:21121306-21121306 18:23541342-23541342 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2053A>G (p.Ile685Val) SNV Uncertain significance 890727 18:21124385-21124385 18:23544421-23544421 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1672G>T (p.Ala558Ser) SNV Uncertain significance 891970 18:21128055-21128055 18:23548091-23548091 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1430C>T (p.Thr477Met) SNV Uncertain significance 889537 18:21134845-21134845 18:23554881-23554881 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1388C>T (p.Thr463Ile) SNV Uncertain significance 889538 18:21134887-21134887 18:23554923-23554923 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.984C>T (p.Ser328=) SNV Uncertain significance 889539 18:21136549-21136549 18:23556585-23556585 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.962C>T (p.Ala321Val) SNV Uncertain significance 889540 18:21136571-21136571 18:23556607-23556607 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.586A>G (p.Lys196Glu) SNV Uncertain significance 890771 18:21141369-21141369 18:23561405-23561405 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.510C>G (p.Asp170Glu) SNV Uncertain significance 890772 18:21141445-21141445 18:23561481-23561481 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.-110C>T SNV Uncertain significance 892013 18:21166417-21166417 18:23586453-23586453 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.-116C>G SNV Uncertain significance 889603 18:21166423-21166423 18:23586459-23586459 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.-139G>A SNV Uncertain significance 889604 18:21166446-21166446 18:23586482-23586482 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1948-11G>A SNV Uncertain significance 890728 18:21124501-21124501 18:23544537-23544537 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.*718C>T SNV Uncertain significance 891595 18:21111448-21111448 18:23531484-23531484 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2514+15G>A SNV Uncertain significance 891922 18:21121017-21121017 18:23541053-23541053 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1947+12G>C SNV Uncertain significance 890729 18:21124912-21124912 18:23544948-23544948 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3450C>A (p.Asn1150Lys) SNV Uncertain significance 551573 rs34715591 18:21115460-21115460 18:23535496-23535496 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2131-1del deletion Uncertain significance 632296 rs1567954054 18:21123534-21123534 18:23543570-23543570 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3527C>T (p.Thr1176Met) SNV Uncertain significance 663971 18:21114474-21114474 18:23534510-23534510 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.563A>G (p.Asn188Ser) SNV Uncertain significance 659101 18:21141392-21141392 18:23561428-23561428 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3525C>A (p.Phe1175Leu) SNV Uncertain significance 863838 18:21114476-21114476 18:23534512-23534512 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3694A>G (p.Met1232Val) SNV Uncertain significance 836417 18:21113379-21113379 18:23533415-23533415 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3293C>T (p.Thr1098Ile) SNV Uncertain significance 813912 18:21115617-21115617 18:23535653-23535653 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1610T>C (p.Phe537Ser) SNV Uncertain significance 813913 18:21131635-21131635 18:23551671-23551671 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.760C>G (p.Pro254Ala) SNV Uncertain significance 854368 18:21140316-21140316 18:23560352-23560352 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.476C>T (p.Ala159Val) SNV Uncertain significance 864676 18:21141479-21141479 18:23561515-23561515 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.463+3A>G SNV Uncertain significance 856484 18:21148784-21148784 18:23568820-23568820 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2604+8_2604+71del deletion Uncertain significance 850266 18:21120341-21120404 18:23540377-23540440 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1729C>T (p.Leu577Phe) SNV Uncertain significance 854371 18:21127998-21127998 18:23548034-23548034 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1548C>G (p.Cys516Trp) SNV Uncertain significance 855353 18:21134727-21134727 18:23554763-23554763 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1321C>T (p.His441Tyr) SNV Uncertain significance 836745 18:21136212-21136212 18:23556248-23556248 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3183A>G (p.Ile1061Met) SNV Uncertain significance 851806 18:21116699-21116699 18:23536735-23536735 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2767A>G (p.Ile923Val) SNV Uncertain significance 863860 18:21119803-21119803 18:23539839-23539839 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2654C>T (p.Ala885Val) SNV Uncertain significance 838284 18:21119916-21119916 18:23539952-23539952 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.547G>A (p.Ala183Thr) SNV Uncertain significance 181450 rs111256741 18:21141408-21141408 18:23561444-23561444 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3265G>A (p.Glu1089Lys) SNV Uncertain significance 181458 rs374526072 18:21115645-21115645 18:23535681-23535681 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.873G>T (p.Trp291Cys) SNV Uncertain significance 289805 rs138151007 18:21140203-21140203 18:23560239-23560239 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2801G>T (p.Arg934Leu) SNV Uncertain significance 289258 rs786204714 18:21119429-21119429 18:23539465-23539465 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1221G>C (p.Gln407His) SNV Uncertain significance 281031 rs765539977 18:21136312-21136312 18:23556348-23556348 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1947+12_1947+13insGGGGC insertion Uncertain significance 326269 rs199713263 18:21124911-21124912 18:23544947-23544948 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.4(NPC1):c.-272A>C SNV Uncertain significance 326290 rs540866381 18:21166579-21166579 18:23586615-23586615 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2734A>G (p.Met912Val) SNV Uncertain significance 326258 rs746398811 18:21119836-21119836 18:23539872-23539872 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.-36A>C SNV Uncertain significance 326284 rs750622739 18:21166343-21166343 18:23586379-23586379 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.-135C>T SNV Uncertain significance 326286 rs886053669 18:21166442-21166442 18:23586478-23586478 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.-154C>T SNV Uncertain significance 326287 rs746297876 18:21166461-21166461 18:23586497-23586497 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.*485dup duplication Uncertain significance 326240 rs757215027 18:21111680-21111681 18:23531716-23531717 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.*349G>A SNV Uncertain significance 326241 rs886053663 18:21111817-21111817 18:23531853-23531853 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.*334T>A SNV Uncertain significance 326242 rs886053664 18:21111832-21111832 18:23531868-23531868 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2304C>T (p.Val768=) SNV Uncertain significance 326263 rs183935795 18:21121339-21121339 18:23541375-23541375 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2090T>C (p.Val697Ala) SNV Uncertain significance 326266 rs886053665 18:21124348-21124348 18:23544384-23544384 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1947+13G>T SNV Uncertain significance 326268 rs568769965 18:21124911-21124911 18:23544947-23544947 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1947+11_1947+12insGGC insertion Uncertain significance 326272 rs547107514 18:21124912-21124913 18:23544948-23544949 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1947+7_1947+11dup duplication Uncertain significance 326271 rs1555634670 18:21124912-21124913 18:23544948-23544949 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.699G>A (p.Glu233=) SNV Uncertain significance 326277 rs769468514 18:21140377-21140377 18:23560413-23560413 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.233G>A (p.Arg78Gln) SNV Uncertain significance 326279 rs373274825 18:21152092-21152092 18:23572128-23572128 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.-29C>G SNV Uncertain significance 326281 rs762126552 18:21166336-21166336 18:23586372-23586372 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.-31G>A SNV Uncertain significance 326282 rs886053668 18:21166338-21166338 18:23586374-23586374 NMN015 Niemann-Pick Disease, Type C1 NPC2 NM_006432.4(NPC2):c.-89G>A SNV Uncertain significance 314241 rs574247323 14:74960066-74960066 14:74493363-74493363 NMN015 Niemann-Pick Disease, Type C1 NPC2 NM_006432.4(NPC2):c.*237G>A SNV Uncertain significance 314237 rs185533644 14:74946740-74946740 14:74480037-74480037 NMN015 Niemann-Pick Disease, Type C1 NPC2 NM_006432.4(NPC2):c.*295C>G SNV Uncertain significance 314235 rs113587712 14:74946682-74946682 14:74479979-74479979 NMN015 Niemann-Pick Disease, Type C1 NPC2 NM_006432.4(NPC2):c.212A>G (p.Lys71Arg) SNV Uncertain significance 314239 rs142075589 14:74951269-74951269 14:74484566-74484566 NMN015 Niemann-Pick Disease, Type C1 NPC2 NM_006432.4(NPC2):c.-68G>T SNV Uncertain significance 314240 rs578161135 14:74960045-74960045 14:74493342-74493342 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.*500A>G SNV Uncertain significance 326239 rs886053662 18:21111666-21111666 18:23531702-23531702 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.*202C>T SNV Uncertain significance 326244 rs535059744 18:21111964-21111964 18:23532000-23532000 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.*191C>A SNV Uncertain significance 326245 rs534888589 18:21111975-21111975 18:23532011-23532011 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.*109T>G SNV Uncertain significance 326247 rs188980155 18:21112057-21112057 18:23532093-23532093 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.*309_*315del deletion Uncertain significance 326243 rs145236115 18:21111851-21111857 18:23531887-23531893 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2269G>A (p.Val757Met) SNV Uncertain significance 326264 rs777156729 18:21121374-21121374 18:23541410-23541410 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1947+12G>T SNV Uncertain significance 326270 rs886053666 18:21124912-21124912 18:23544948-23544948 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1947+6C>G SNV Uncertain significance 326273 rs745432812 18:21124918-21124918 18:23544954-23544954 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.946A>G (p.Ser316Gly) SNV Uncertain significance 326275 rs748432821 18:21137090-21137090 18:23557126-23557126 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.799G>A (p.Ala267Thr) SNV Uncertain significance 326276 rs886053667 18:21140277-21140277 18:23560313-23560313 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.180+13T>C SNV Uncertain significance 326280 rs556162692 18:21153403-21153403 18:23573439-23573439 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.-100C>G SNV Uncertain significance 326285 rs553740667 18:21166407-21166407 18:23586443-23586443 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2747A>G (p.Asn916Ser) SNV Uncertain significance 374343 rs756815669 18:21119823-21119823 18:23539859-23539859 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2820G>A (p.Ser940=) SNV Uncertain significance 326256 rs754664476 18:21119410-21119410 18:23539446-23539446 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2973G>A (p.Gln991=) SNV Uncertain significance 326254 rs201118975 18:21118574-21118574 18:23538610-23538610 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2832C>T (p.Asp944=) SNV Uncertain significance 326255 rs780019300 18:21119398-21119398 18:23539434-23539434 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2373+14A>G SNV Uncertain significance 326261 rs771523995 18:21121256-21121256 18:23541292-23541292 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2349G>C (p.Leu783Phe) SNV Uncertain significance 326262 rs759628748 18:21121294-21121294 18:23541330-23541330 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2131A>G (p.Arg711Gly) SNV Uncertain significance 326265 rs759292620 18:21123533-21123533 18:23543569-23543569 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.4(NPC1):c.-179C>T SNV Likely benign 326288 rs145693774 18:21166486-21166486 18:23586522-23586522 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2100C>T (p.Asp700=) SNV Likely benign 255693 rs372517881 18:21124338-21124338 18:23544374-23544374 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1170G>A (p.Leu390=) SNV Likely benign 255691 rs369109734 18:21136363-21136363 18:23556399-23556399 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2778G>A (p.Ala926=) SNV Likely benign 380488 rs754772486 18:21119792-21119792 18:23539828-23539828 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.463+19A>G SNV Likely benign 378276 rs117512587 18:21148768-21148768 18:23568804-23568804 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.4(NPC1):c.-238C>G SNV Likely benign 326289 rs8099071 18:21166545-21166545 18:23586581-23586581 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2428G>A (p.Val810Ile) SNV Likely benign 833897 18:21121118-21121118 18:23541154-23541154 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2359A>G (p.Ile787Val) SNV Likely benign 833679 18:21121284-21121284 18:23541320-23541320 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.123T>C (p.Asn41=) SNV Likely benign 703686 18:21153473-21153473 18:23573509-23573509 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3755-16TC[7] short repeat Likely benign 702825 18:21112252-21112253 18:23532288-23532289 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1095G>A (p.Ser365=) SNV Likely benign 769407 18:21136438-21136438 18:23556474-23556474 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.435A>G (p.Gln145=) SNV Likely benign 791756 18:21148815-21148815 18:23568851-23568851 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1947+9_1947+10insGGCGG insertion Likely benign 720210 18:21124914-21124915 18:23544950-23544951 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2643G>A (p.Gln881=) SNV Likely benign 735259 18:21119927-21119927 18:23539963-23539963 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1608G>A (p.Thr536=) SNV Likely benign 733195 18:21131637-21131637 18:23551673-23551673 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.963G>A (p.Ala321=) SNV Likely benign 724838 18:21136570-21136570 18:23556606-23556606 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2796-9C>T SNV Likely benign 724297 18:21119443-21119443 18:23539479-23539479 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1757+7dup duplication Likely benign 725293 18:21127962-21127963 18:23547998-23547999 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.956-10G>A SNV Likely benign 733050 18:21136587-21136587 18:23556623-23556623 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3828A>G (p.Leu1276=) SNV Likely benign 742985 18:21112175-21112175 18:23532211-23532211 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3294T>C (p.Thr1098=) SNV Likely benign 747846 18:21115616-21115616 18:23535652-23535652 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2001G>A (p.Ser667=) SNV Likely benign 738011 18:21124437-21124437 18:23544473-23544473 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1655-10T>C SNV Likely benign 758840 18:21128082-21128082 18:23548118-23548118 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.882-9G>T SNV Likely benign 779030 18:21137163-21137163 18:23557199-23557199 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3129C>T (p.Thr1043=) SNV Likely benign 795006 18:21116753-21116753 18:23536789-23536789 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3039A>G (p.Lys1013=) SNV Likely benign 797057 18:21118508-21118508 18:23538544-23538544 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2781G>A (p.Ala927=) SNV Likely benign 795311 18:21119789-21119789 18:23539825-23539825 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1371T>C (p.Tyr457=) SNV Likely benign 798419 18:21134904-21134904 18:23554940-23554940 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.222T>C (p.Cys74=) SNV Likely benign 793294 18:21152103-21152103 18:23572139-23572139 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1947+8G>A SNV Likely benign 797432 18:21124916-21124916 18:23544952-23544952 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1947+7C>T SNV Likely benign 794808 18:21124917-21124917 18:23544953-23544953 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2246-6C>T SNV Likely benign 744735 18:21121403-21121403 18:23541439-23541439 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3744C>T (p.Leu1248=) SNV Likely benign 755984 18:21113329-21113329 18:23533365-23533365 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3264C>T (p.Tyr1088=) SNV Likely benign 760409 18:21115646-21115646 18:23535682-23535682 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3099C>T (p.Val1033=) SNV Likely benign 754801 18:21116783-21116783 18:23536819-23536819 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2508A>G (p.Pro836=) SNV Likely benign 751539 18:21121038-21121038 18:23541074-23541074 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2347T>C (p.Leu783=) SNV Likely benign 766173 18:21121296-21121296 18:23541332-23541332 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2268C>T (p.Ala756=) SNV Likely benign 753277 18:21121375-21121375 18:23541411-23541411 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2256C>G (p.Ser752=) SNV Likely benign 761033 18:21121387-21121387 18:23541423-23541423 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2088T>C (p.Ala696=) SNV Likely benign 766085 18:21124350-21124350 18:23544386-23544386 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2055T>C (p.Ile685=) SNV Likely benign 766432 18:21124383-21124383 18:23544419-23544419 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1869C>T (p.Thr623=) SNV Likely benign 751540 18:21125002-21125002 18:23545038-23545038 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.606T>C (p.Pro202=) SNV Likely benign 751742 18:21141349-21141349 18:23561385-23561385 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1947+9_1947+10insGGCG insertion Likely benign 752048 18:21124914-21124915 18:23544950-23544951 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1947+7_1947+8insCGGGGG insertion Likely benign 755356 18:21124916-21124917 18:23544952-23544953 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.*68G>A SNV Likely benign 891856 18:21112098-21112098 18:23532134-23532134 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1275G>A (p.Ser425=) SNV Likely benign 80779 rs190032589 18:21136258-21136258 18:23556294-23556294 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3477+14C>T SNV Likely benign 550213 rs56043719 18:21115419-21115419 18:23535455-23535455 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.956-7C>T SNV Likely benign 558889 rs537484682 18:21136584-21136584 18:23556620-23556620 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1947+16del deletion Likely benign 522362 rs3837910 18:21124908-21124908 18:23544944-23544944 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2604+14_2604+16del deletion Likely benign 518275 rs747422358 18:21120396-21120398 18:23540432-23540434 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1947+8_1947+9dup duplication Likely benign 518276 rs3837910 18:21124907-21124908 18:23544943-23544944 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.72C>T (p.Ser24=) SNV Likely benign 471945 rs764560779 18:21153524-21153524 18:23573560-23573560 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.445G>A (p.Gly149Arg) SNV Benign/Likely benign 497771 rs143205855 18:21148805-21148805 18:23568841-23568841 NMN015 Niemann-Pick Disease, Type C1 NPC2 NM_006432.4(NPC2):c.*9T>C SNV Benign/Likely benign 502347 rs80216539 14:74946968-74946968 14:74480265-74480265 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3450C>T (p.Asn1150=) SNV Benign/Likely benign 508626 rs34715591 18:21115460-21115460 18:23535496-23535496 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1695C>T (p.Phe565=) SNV Benign/Likely benign 594988 rs373094778 18:21128032-21128032 18:23548068-23548068 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1300C>T (p.Pro434Ser) SNV Benign/Likely benign 92700 rs61731962 18:21136233-21136233 18:23556269-23556269 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1947+10G>C SNV Benign/Likely benign 92702 rs71534236 18:21124914-21124914 18:23544950-23544950 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1947+9_1947+10insC insertion Benign/Likely benign 598437 rs1555634683 18:21124914-21124915 18:23544950-23544951 NMN015 Niemann-Pick Disease, Type C1 NPC2 NM_006432.4(NPC2):c.190+14G>A SNV Benign/Likely benign 259982 rs189666920 14:74953018-74953018 14:74486315-74486315 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3561G>A (p.Ala1187=) SNV Benign/Likely benign 255698 rs55724504 18:21114440-21114440 18:23534476-23534476 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1532C>T (p.Thr511Met) SNV Benign/Likely benign 199001 rs13381670 18:21134743-21134743 18:23554779-23554779 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1503C>T (p.Asp501=) SNV Benign/Likely benign 199002 rs116046557 18:21134772-21134772 18:23554808-23554808 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1232G>A (p.Arg411Gln) SNV Benign/Likely benign 235359 rs77080672 18:21136301-21136301 18:23556337-23556337 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1947+7_1947+8insCGGG insertion Benign/Likely benign 284646 rs1555634618 18:21124916-21124917 18:23544952-23544953 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly) SNV Benign/Likely benign 284662 rs35248744 18:21113475-21113475 18:23533511-23533511 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3477+4A>G SNV Benign/Likely benign 284996 rs114073738 18:21115429-21115429 18:23535465-23535465 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1947+10G>A SNV Benign/Likely benign 281050 rs71534236 18:21124914-21124914 18:23544950-23544950 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1947+8dup duplication Benign/Likely benign 193982 rs3837910 18:21124907-21124908 18:23544943-23544944 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2073G>A (p.Pro691=) SNV Benign/Likely benign 194158 rs113013085 18:21124365-21124365 18:23544401-23544401 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3441C>T (p.Ile1147=) SNV Benign/Likely benign 326249 rs116436235 18:21115469-21115469 18:23535505-23535505 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.-32C>T SNV Benign/Likely benign 326283 rs114070977 18:21166339-21166339 18:23586375-23586375 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.501A>G (p.Ser167=) SNV Benign/Likely benign 326278 rs202148667 18:21141454-21141454 18:23561490-23561490 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.*164T>C SNV Benign 326246 rs8086463 18:21112002-21112002 18:23532038-23532038 NMN015 Niemann-Pick Disease, Type C1 NPC2 NM_006432.4(NPC2):c.*271C>T SNV Benign 314236 rs75936194 14:74946706-74946706 14:74480003-74480003 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.966C>T (p.Ser322=) SNV Benign 326274 rs61731965 18:21136567-21136567 18:23556603-23556603 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2661G>A (p.Pro887=) SNV Benign 326259 rs9949660 18:21119909-21119909 18:23539945-23539945 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2103C>T (p.Asn701=) SNV Benign 194159 rs7227375 18:21124335-21124335 18:23544371-23544371 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2795+19T>C SNV Benign 194809 rs200103695 18:21119756-21119756 18:23539792-23539792 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.612C>T (p.Thr204=) SNV Benign 197651 rs151084683 18:21141343-21141343 18:23561379-23561379 NMN015 Niemann-Pick Disease, Type C1 NPC2 NM_006432.4(NPC2):c.442-4A>C SNV Benign 197788 rs114950106 14:74946995-74946995 14:74480292-74480292 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser) SNV Benign 181452 rs34302553 18:21119839-21119839 18:23539875-23539875 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1071G>A (p.Ser357=) SNV Benign 281049 rs61731964 18:21136462-21136462 18:23556498-23556498 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.-22A>C SNV Benign 255689 rs2303880 18:21166329-21166329 18:23586365-23586365 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.882-40T>A SNV Benign 702571 18:21137194-21137194 18:23557230-23557230 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1947+8_1947+11dup duplication Benign 92703 rs3837910 18:21124907-21124908 18:23544943-23544944 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1947+14G>T SNV Benign 92704 rs3745024 18:21124910-21124910 18:23544946-23544946 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln) SNV Benign 21140 rs1805084 18:21112206-21112206 18:23532242-23532242 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) SNV Benign 92701 rs1788799 18:21124945-21124945 18:23544981-23544981 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3535A>G (p.Met1179Val) SNV Benign 92713 rs61731969 18:21114466-21114466 18:23534502-23534502 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.644A>G (p.His215Arg) SNV Benign 92714 rs1805081 18:21140432-21140432 18:23560468-23560468 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.387T>C (p.Tyr129=) SNV Benign 129811 rs12970899 18:21148863-21148863 18:23568899-23568899 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2514+6C>T SNV Benign 92707 rs73392120 18:21121026-21121026 18:23541062-23541062 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) SNV Benign 21135 rs1805082 18:21120444-21120444 18:23540480-23540480 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2793C>T (p.Asn931=) SNV Benign 21136 rs1140458 18:21119777-21119777 18:23539813-23539813 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1926= (p.Met642=) SNV Benign 21133 rs1788799 18:21124945-21124945 18:23544981-23544981 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.3477+19T>C SNV Benign 518274 rs375942184 18:21115414-21115414 18:23535450-23535450 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2604+30del deletion Benign 522211 rs746440359 18:21120382-21120382 18:23540418-23540418 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2131-5_2131-4del deletion Benign 522212 rs11299077 18:21123537-21123538 18:23543573-23543574 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.540C>T (p.Asp180=) SNV Benign 471944 rs143656971 18:21141415-21141415 18:23561451-23561451 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2131-4del deletion Benign 403254 rs11299077 18:21123537-21123537 18:23543573-23543573 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.1947+8_1947+10dup duplication Benign 418387 rs3837910 18:21124907-21124908 18:23544943-23544944 NMN015 Niemann-Pick Disease, Type C1 NPC1 NM_000271.5(NPC1):c.2727C>T (p.Cys909=) SNV no interpretation for the single variant 869109 18:21119843-21119843 18:23539879-23539879 NMN015 Niemann-Pick Disease, Type C1 GP1BA GP1BA, 92-BP DUP, SER399-THR411 DUP, VARIABLE REPEATS duplication risk factor 4152 NNR004 Nonarteritic Anterior Ischemic Optic Neuropathy GP1BA NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe) SNV Likely benign 417940 rs13306411 17:4836155-4836155 17:4932860-4932860 NNR004 Nonarteritic Anterior Ischemic Optic Neuropathy RIT1 NM_006912.6(RIT1):c.69A>C (p.Lys23Asn) SNV Pathogenic 581105 rs1557962794 1:155880484-155880484 1:155910693-155910693 NNN008 Noonan Syndrome 1 RRAS2 NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr) SNV Pathogenic 626912 11:14316397-14316397 11:14294851-14294851 NNN008 Noonan Syndrome 1 RRAS2 NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup) duplication Pathogenic 626913 11:14380338-14380339 11:14358792-14358793 NNN008 Noonan Syndrome 1 RRAS2 NM_012250.6(RRAS2):c.65_73dup (p.Gly22_Gly24dup) duplication Pathogenic 626910 11:14380343-14380344 11:14358797-14358798 NNN008 Noonan Syndrome 1 RRAS2 NM_012250.6(RRAS2):c.68G>T (p.Gly23Val) SNV Pathogenic 626911 11:14380349-14380349 11:14358803-14358803 NNN008 Noonan Syndrome 1 GJB2 NM_004004.6(GJB2):c.205T>C (p.Phe69Leu) SNV Pathogenic 804361 13:20763516-20763516 13:20189377-20189377 NNN008 Noonan Syndrome 1 RIT1 NM_006912.6(RIT1):c.245T>C (p.Phe82Ser) SNV Pathogenic 694696 1:155874286-155874286 1:155904495-155904495 NNN008 Noonan Syndrome 1 RIT1 NM_006912.6(RIT1):c.91G>C (p.Gly31Arg) SNV Pathogenic 694723 1:155880462-155880462 1:155910671-155910671 NNN008 Noonan Syndrome 1 SHOC2 NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) SNV Pathogenic 6821 rs267607048 10:112724120-112724120 10:110964362-110964362 NNN008 Noonan Syndrome 1 RRAS2 NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu) SNV Pathogenic 9447 rs113954997 11:14316390-14316390 11:14294844-14294844 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.178G>C (p.Gly60Arg) SNV Pathogenic 12586 rs104894359 12:25380280-25380280 12:25227346-25227346 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*12A>T SNV Pathogenic 12587 rs104894360 12:25362838-25362838 12:25209904-25209904 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.173C>T (p.Thr58Ile) SNV Pathogenic 12588 rs104894364 12:25380285-25380285 12:25227351-25227351 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.40G>A (p.Val14Ile) SNV Pathogenic 12589 rs104894365 12:25398279-25398279 12:25245345-25245345 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.15A>T (p.Lys5Asn) SNV Pathogenic 12594 rs104894361 12:25398304-25398304 12:25245370-25245370 NNN008 Noonan Syndrome 1 HRAS NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) SNV Pathogenic 12606 rs104894228 11:534286-534286 11:534286-534286 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.797C>A (p.Thr266Lys) SNV Pathogenic 12869 rs137852812 2:39278352-39278352 2:39051211-39051211 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.806T>G (p.Met269Arg) SNV Pathogenic 12870 rs137852813 2:39278343-39278343 2:39051202-39051202 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.1654A>G (p.Arg552Gly) SNV Pathogenic 12871 rs137852814 2:39249915-39249915 2:39022774-39022774 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.1656G>C (p.Arg552Ser) SNV Pathogenic 12872 rs267607079 2:39249913-39249913 2:39022772-39022772 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.1294T>C (p.Trp432Arg) SNV Pathogenic 12873 rs267607080 2:39250275-39250275 2:39023134-39023134 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) SNV Pathogenic 13324 rs121918453 12:112888198-112888198 12:112450394-112450394 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) SNV Pathogenic 13329 rs121918460 12:112888168-112888168 12:112450364-112450364 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) SNV Pathogenic 13331 rs121918457 12:112926270-112926270 12:112488466-112488466 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) SNV Pathogenic 13332 rs121918458 12:112926884-112926884 12:112489080-112489080 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) SNV Pathogenic 13333 rs121918459 12:112888172-112888172 12:112450368-112450368 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) SNV Pathogenic 13334 rs121918462 12:112888202-112888202 12:112450398-112450398 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) SNV Pathogenic 13335 rs121918463 12:112915455-112915455 12:112477651-112477651 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys) SNV Pathogenic 13336 rs121918464 12:112888210-112888210 12:112450406-112450406 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) SNV Pathogenic 13340 rs121918466 12:112888220-112888220 12:112450416-112450416 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) SNV Pathogenic 13326 rs28933386 12:112915523-112915523 12:112477719-112477719 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) SNV Pathogenic 13330 rs121918461 12:112888166-112888166 12:112450362-112450362 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) SNV Pathogenic 13327 rs121918455 12:112915524-112915524 12:112477720-112477720 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) SNV Pathogenic 13342 rs121918468 12:112926248-112926248 12:112488444-112488444 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) SNV Pathogenic 13343 rs121918469 12:112926258-112926258 12:112488454-112488454 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) SNV Pathogenic 13344 rs121918470 12:112926909-112926909 12:112489105-112489105 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.3(PTPN11):c.179_181delGTG (p.Gly60del) deletion Pathogenic 13346 rs80338836 12:112888161-112888163 12:112450357-112450359 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) SNV Pathogenic 13349 rs267606990 12:112856920-112856920 12:112419116-112419116 NNN008 Noonan Syndrome 1 MAP2K1 NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) SNV Pathogenic 13351 rs121908595 15:66729181-66729181 15:66436843-66436843 NNN008 Noonan Syndrome 1 NRAS NM_002524.5(NRAS):c.149C>T (p.Thr50Ile) SNV Pathogenic 13902 rs267606921 1:115256562-115256562 1:114713941-114713941 NNN008 Noonan Syndrome 1 NRAS NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) SNV Pathogenic 13903 rs267606920 1:115256532-115256532 1:114713911-114713911 NNN008 Noonan Syndrome 1 RAF1 NM_001354689.3(RAF1):c.770C>T (p.Ser257Leu) SNV Pathogenic 13957 rs80338796 3:12645699-12645699 3:12604200-12604200 NNN008 Noonan Syndrome 1 RAF1 NM_001354689.3(RAF1):c.781C>T (p.Pro261Ser) SNV Pathogenic 13958 rs121434594 3:12645688-12645688 3:12604189-12604189 NNN008 Noonan Syndrome 1 RAF1 NM_001354689.3(RAF1):c.1897C>G (p.Leu633Val) SNV Pathogenic 13960 rs80338797 3:12626123-12626123 3:12584624-12584624 NNN008 Noonan Syndrome 1 BRAF NM_001374258.1(BRAF):c.1511G>A (p.Gly504Glu) SNV Pathogenic 13964 rs121913348 7:140481417-140481417 7:140781617-140781617 NNN008 Noonan Syndrome 1 BRAF NM_001374258.1(BRAF):c.736G>C (p.Ala246Pro) SNV Pathogenic 13965 rs180177034 7:140501336-140501336 7:140801536-140801536 NNN008 Noonan Syndrome 1 BRAF NM_001374258.1(BRAF):c.1909C>G (p.Leu637Val) SNV Pathogenic 13969 rs121913369 7:140453146-140453146 7:140753346-140753346 NNN008 Noonan Syndrome 1 BRAF NM_001374258.1(BRAF):c.1575G>C (p.Leu525Phe) SNV Pathogenic 13975 rs180177036 7:140477853-140477853 7:140778053-140778053 NNN008 Noonan Syndrome 1 RAF1 NM_001354689.3(RAF1):c.1532C>T (p.Thr511Ile) SNV Pathogenic 21342 rs80338799 3:12627244-12627244 3:12585745-12585745 NNN008 Noonan Syndrome 1 BRAF NM_004333.6(BRAF):c.722C>G (p.Thr241Arg) SNV Pathogenic 29806 rs387906660 7:140501350-140501350 7:140801550-140801550 NNN008 Noonan Syndrome 1 BRAF NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys) SNV Pathogenic 29808 rs606231228 7:140476813-140476813 7:140777013-140777013 NNN008 Noonan Syndrome 1 NRAS NM_002524.5(NRAS):c.101C>T (p.Pro34Leu) SNV Pathogenic 39647 rs397514553 1:115258681-115258681 1:114716060-114716060 NNN008 Noonan Syndrome 1 BRAF NM_001374258.1(BRAF):c.735A>C (p.Leu245Phe) SNV Pathogenic 40347 rs397507466 7:140501337-140501337 7:140801537-140801537 NNN008 Noonan Syndrome 1 BRAF NM_004333.6(BRAF):c.1513C>T (p.Leu505Phe) SNV Pathogenic 40375 rs397507477 7:140477795-140477795 7:140777995-140777995 NNN008 Noonan Syndrome 1 BRAF NM_001374258.1(BRAF):c.1907G>T (p.Gly636Val) SNV Pathogenic 40387 rs397507483 7:140453148-140453148 7:140753348-140753348 NNN008 Noonan Syndrome 1 BRAF NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile) SNV Pathogenic 40388 rs121913375 7:140453139-140453139 7:140753339-140753339 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.65A>G (p.Gln22Arg) SNV Pathogenic 40452 rs727503110 12:25398254-25398254 12:25245320-25245320 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.101C>T (p.Pro34Leu) SNV Pathogenic 40454 rs104894366 12:25398218-25398218 12:25245284-25245284 NNN008 Noonan Syndrome 1 NRAS NM_002524.5(NRAS):c.35G>T (p.Gly12Val) SNV Pathogenic 40470 rs121913237 1:115258747-115258747 1:114716126-114716126 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) SNV Pathogenic 40482 rs397507501 12:112884189-112884189 12:112446385-112446385 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) SNV Pathogenic 40485 rs397507504 12:112888150-112888150 12:112450346-112450346 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.172A>C (p.Asn58His) SNV Pathogenic 40486 rs397507505 12:112888156-112888156 12:112450352-112450352 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) SNV Pathogenic 40487 rs397507505 12:112888156-112888156 12:112450352-112450352 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys) SNV Pathogenic 40488 rs397507506 12:112888158-112888158 12:112450354-112450354 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser) SNV Pathogenic 40490 rs397507507 12:112888162-112888162 12:112450358-112450358 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala) SNV Pathogenic 40493 rs397507509 12:112888163-112888163 12:112450359-112450359 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) SNV Pathogenic 40495 rs397507510 12:112888165-112888165 12:112450361-112450361 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.205G>C (p.Glu69Gln) SNV Pathogenic 40498 rs397507511 12:112888189-112888189 12:112450385-112450385 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) SNV Pathogenic 40502 rs397507514 12:112888212-112888212 12:112450408-112450408 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.228G>C (p.Glu76Asp) SNV Pathogenic 40503 rs397507514 12:112888212-112888212 12:112450408-112450408 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.317A>C (p.Asp106Ala) SNV Pathogenic 40506 rs397507517 12:112888301-112888301 12:112450497-112450497 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp) SNV Pathogenic 40512 rs397507520 12:112891083-112891083 12:112453279-112453279 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) SNV Pathogenic 40513 rs397507520 12:112891083-112891083 12:112453279-112453279 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.768_770dup short repeat Pathogenic 40519 rs397507524 12:112910752-112910753 12:112472948-112472949 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe) SNV Pathogenic 40520 rs397507525 12:112910772-112910772 12:112472968-112472968 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.785T>G (p.Leu262Arg) SNV Pathogenic 40521 rs397507526 12:112910776-112910776 12:112472972-112472972 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) SNV Pathogenic 40522 rs376607329 12:112910785-112910785 12:112472981-112472981 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) SNV Pathogenic 40549 rs397507539 12:112926851-112926851 12:112489047-112489047 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser) SNV Pathogenic 40550 rs397507539 12:112926851-112926851 12:112489047-112489047 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.1472C>A (p.Pro491His) SNV Pathogenic 40551 rs397507540 12:112926852-112926852 12:112489048-112489048 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) SNV Pathogenic 40552 rs397507540 12:112926852-112926852 12:112489048-112489048 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) SNV Pathogenic 40553 rs397507541 12:112926872-112926872 12:112489068-112489068 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) SNV Pathogenic 40554 rs397507542 12:112926873-112926873 12:112489069-112489069 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys) SNV Pathogenic 40555 rs397507543 12:112926882-112926882 12:112489078-112489078 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.1504T>G (p.Ser502Ala) SNV Pathogenic 40556 rs121918458 12:112926884-112926884 12:112489080-112489080 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) SNV Pathogenic 40525 rs397507529 12:112910835-112910835 12:112473031-112473031 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.854T>G (p.Phe285Cys) SNV Pathogenic 40533 rs121918463 12:112915455-112915455 12:112477651-112477651 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr) SNV Pathogenic 40535 rs121918455 12:112915524-112915524 12:112477720-112477720 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) SNV Pathogenic 40558 rs397507545 12:112926887-112926887 12:112489083-112489083 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) SNV Pathogenic 40559 rs397507545 12:112926887-112926887 12:112489083-112489083 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) SNV Pathogenic 40562 rs397507547 12:112926890-112926890 12:112489086-112489086 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) SNV Pathogenic 40566 rs397507549 12:112926908-112926908 12:112489104-112489104 NNN008 Noonan Syndrome 1 RAF1 NM_001354689.3(RAF1):c.524A>G (p.His175Arg) SNV Pathogenic 40594 rs397516822 3:12650322-12650322 3:12608823-12608823 NNN008 Noonan Syndrome 1 RAF1 NM_001354689.3(RAF1):c.768G>T (p.Arg256Ser) SNV Pathogenic 40599 rs397516826 3:12645701-12645701 3:12604202-12604202 NNN008 Noonan Syndrome 1 RAF1 NM_001354689.3(RAF1):c.775T>A (p.Ser259Thr) SNV Pathogenic 40601 rs3730271 3:12645694-12645694 3:12604195-12604195 NNN008 Noonan Syndrome 1 RAF1 NM_001354689.3(RAF1):c.776C>T (p.Ser259Phe) SNV Pathogenic 40603 rs397516827 3:12645693-12645693 3:12604194-12604194 NNN008 Noonan Syndrome 1 RAF1 NM_001354689.3(RAF1):c.781C>A (p.Pro261Thr) SNV Pathogenic 40604 rs121434594 3:12645688-12645688 3:12604189-12604189 NNN008 Noonan Syndrome 1 RAF1 NM_001354689.3(RAF1):c.788T>C (p.Val263Ala) SNV Pathogenic 40608 rs397516830 3:12645681-12645681 3:12604182-12604182 NNN008 Noonan Syndrome 1 RAF1 NM_001354689.3(RAF1):c.1142G>C (p.Gly381Ala) SNV Pathogenic 40613 rs397516813 3:12641216-12641216 3:12599717-12599717 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.322G>A (p.Glu108Lys) SNV Pathogenic 40649 rs397517164 2:39285837-39285837 2:39058696-39058696 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.508A>G (p.Lys170Glu) SNV Pathogenic 40651 rs397517172 2:39283845-39283845 2:39056704-39056704 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.806T>C (p.Met269Thr) SNV Pathogenic 40662 rs137852813 2:39278343-39278343 2:39051202-39051202 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.1297G>A (p.Glu433Lys) SNV Pathogenic 40669 rs397517147 2:39250272-39250272 2:39023131-39023131 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.1300G>A (p.Gly434Arg) SNV Pathogenic 40672 rs397517148 2:39250269-39250269 2:39023128-39023128 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.1322G>A (p.Cys441Tyr) SNV Pathogenic 40673 rs727504295 2:39250247-39250247 2:39023106-39023106 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.1642A>C (p.Ser548Arg) SNV Pathogenic 40678 rs397517149 2:39249927-39249927 2:39022786-39022786 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.1649T>C (p.Leu550Pro) SNV Pathogenic 40680 rs397517153 2:39249920-39249920 2:39022779-39022779 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.1655G>C (p.Arg552Thr) SNV Pathogenic 40682 rs397517154 2:39249914-39249914 2:39022773-39022773 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.1655G>A (p.Arg552Lys) SNV Pathogenic 40683 rs397517154 2:39249914-39249914 2:39022773-39022773 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.1656G>T (p.Arg552Ser) SNV Pathogenic 40684 rs267607079 2:39249913-39249913 2:39022772-39022772 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.2104T>C (p.Tyr702His) SNV Pathogenic 40696 rs727505381 2:39240664-39240664 2:39013523-39013523 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.2536G>A (p.Glu846Lys) SNV Pathogenic 40706 rs397517159 2:39234309-39234309 2:39007168-39007168 NNN008 Noonan Syndrome 1 MAP2K1 NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) SNV Pathogenic 40781 rs727504317 15:66727483-66727483 15:66435145-66435145 NNN008 Noonan Syndrome 1 BRAF NM_001374258.1(BRAF):c.1921A>C (p.Lys641Gln) SNV Pathogenic 41446 rs121913364 7:140453134-140453134 7:140753334-140753334 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.217_218delinsCT (p.Thr73Leu) indel Pathogenic 44604 rs397516802 12:112888201-112888202 12:112450397-112450398 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.855T>G (p.Phe285Leu) SNV Pathogenic 44615 rs397516810 12:112915456-112915456 12:112477652-112477652 NNN008 Noonan Syndrome 1 RAF1 NM_001354689.3(RAF1):c.786T>A (p.Asn262Lys) SNV Pathogenic 44634 rs397516829 3:12645683-12645683 3:12604184-12604184 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.182A>G (p.Gln61Arg) SNV Pathogenic 45115 rs121913240 12:25380276-25380276 12:25227342-25227342 NNN008 Noonan Syndrome 1 CBL NM_005188.4(CBL):c.1096-1G>C SNV Pathogenic 45196 rs397517076 11:119148875-119148875 11:119278165-119278165 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.1310T>C (p.Ile437Thr) SNV Pathogenic 45345 rs397517150 2:39250259-39250259 2:39023118-39023118 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.925G>T (p.Asp309Tyr) SNV Pathogenic 45379 rs397517180 2:39262581-39262581 2:39035440-39035440 NNN008 Noonan Syndrome 1 BRAF NM_004333.6(BRAF):c.741T>G (p.Phe247Leu) SNV Pathogenic 55793 rs397509343 7:140501331-140501331 7:140801531-140801531 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.179G>T (p.Gly60Val) SNV Pathogenic 55797 rs397507509 12:112888163-112888163 12:112450359-112450359 NNN008 Noonan Syndrome 1 RIT1 NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) SNV Pathogenic 60506 rs672601334 1:155874589-155874589 1:155904798-155904798 NNN008 Noonan Syndrome 1 RIT1 NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) SNV Pathogenic 60509 rs672601335 1:155874247-155874247 1:155904456-155904456 NNN008 Noonan Syndrome 1 RAF1 NM_001354689.3(RAF1):c.782C>T (p.Pro261Leu) SNV Pathogenic 120246 rs397516828 3:12645687-12645687 3:12604188-12604188 NNN008 Noonan Syndrome 1 RIT1 NM_006912.6(RIT1):c.270G>A (p.Met90Ile) SNV Pathogenic 120250 rs483352822 1:155874261-155874261 1:155904470-155904470 NNN008 Noonan Syndrome 1 NRAS NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) SNV Pathogenic 177778 rs121913250 1:115258748-115258748 1:114716127-114716127 NNN008 Noonan Syndrome 1 BRAF NM_001374258.1(BRAF):c.1575G>T (p.Leu525Phe) SNV Pathogenic 177844 rs180177036 7:140477853-140477853 7:140778053-140778053 NNN008 Noonan Syndrome 1 BRAF NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu) SNV Pathogenic 162797 rs180177042 7:140449165-140449165 7:140749365-140749365 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.179G>T (p.Gly60Val) SNV Pathogenic 163766 rs727503108 12:25380279-25380279 12:25227345-25227345 NNN008 Noonan Syndrome 1 MAP2K2 NM_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys) SNV Pathogenic 177868 rs727504370 19:4110556-4110556 19:4110558-4110558 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*20T>A SNV Pathogenic 163758 rs397517042 12:25362830-25362830 12:25209896-25209896 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.214A>T (p.Met72Leu) SNV Pathogenic 179141 rs727504662 12:25380244-25380244 12:25227310-25227310 NNN008 Noonan Syndrome 1 RIT1 NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) SNV Pathogenic 181522 rs730881014 1:155874285-155874285 1:155904494-155904494 NNN008 Noonan Syndrome 1 BRAF NM_004333.6(BRAF):c.739T>C (p.Phe247Leu) SNV Pathogenic 180784 rs397516903 7:140501333-140501333 7:140801533-140801533 NNN008 Noonan Syndrome 1 CBL NM_005188.4(CBL):c.1096-1G>T SNV Pathogenic 180815 rs397517076 11:119148875-119148875 11:119278165-119278165 NNN008 Noonan Syndrome 1 RIT1 NM_006912.6(RIT1):c.247A>C (p.Thr83Pro) SNV Pathogenic 183409 rs869025195 1:155874284-155874284 1:155904493-155904493 NNN008 Noonan Syndrome 1 RIT1 NM_006912.6(RIT1):c.244T>G (p.Phe82Val) SNV Pathogenic 183408 rs869025194 1:155874287-155874287 1:155904496-155904496 NNN008 Noonan Syndrome 1 RIT1 NM_006912.6(RIT1):c.244T>C (p.Phe82Leu) SNV Pathogenic 183407 rs869025194 1:155874287-155874287 1:155904496-155904496 NNN008 Noonan Syndrome 1 RIT1 NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) SNV Pathogenic 183405 rs869025193 1:155874289-155874289 1:155904498-155904498 NNN008 Noonan Syndrome 1 RIT1 NM_006912.6(RIT1):c.241G>C (p.Glu81Gln) SNV Pathogenic 183404 rs869025192 1:155874290-155874290 1:155904499-155904499 NNN008 Noonan Syndrome 1 RIT1 NM_006912.6(RIT1):c.104G>C (p.Ser35Thr) SNV Pathogenic 183401 rs869025189 1:155880449-155880449 1:155910658-155910658 NNN008 Noonan Syndrome 1 SOS2 NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) SNV Pathogenic 209091 rs869320687 14:50628269-50628269 14:50161551-50161551 NNN008 Noonan Syndrome 1 RIT1 NM_006912.6(RIT1):c.265T>C (p.Tyr89His) SNV Pathogenic 183411 rs869025197 1:155874266-155874266 1:155904475-155904475 NNN008 Noonan Syndrome 1 NRAS NM_002524.5(NRAS):c.71T>A (p.Ile24Asn) SNV Pathogenic 222971 rs869025573 1:115258711-115258711 1:114716090-114716090 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.181_183del (p.Asp61del) deletion Pathogenic 222972 rs869025574 12:112888164-112888166 12:112450360-112450362 NNN008 Noonan Syndrome 1 MAP2K1 NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp) SNV Pathogenic 228273 rs876657651 15:66729156-66729156 15:66436818-66436818 NNN008 Noonan Syndrome 1 RIT1 NM_006912.6(RIT1):c.246T>A (p.Phe82Leu) SNV Pathogenic 370035 rs730881014 1:155874285-155874285 1:155904494-155904494 NNN008 Noonan Syndrome 1 MAP2K1 NM_002755.3(MAP2K1):c.370C>T (p.Pro124Ser) SNV Pathogenic/Likely pathogenic 375981 rs1057519732 15:66729162-66729162 15:66436824-66436824 NNN008 Noonan Syndrome 1 RIT1 NM_006912.6(RIT1):c.229G>C (p.Ala77Pro) SNV Pathogenic/Likely pathogenic 228289 rs869025191 1:155874530-155874530 1:155904739-155904739 NNN008 Noonan Syndrome 1 RIT1 NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) SNV Pathogenic/Likely pathogenic 183403 rs869025191 1:155874530-155874530 1:155904739-155904739 NNN008 Noonan Syndrome 1 CBL NM_005188.3(CBL):c.1111T>A (p.Tyr371Asn) SNV Pathogenic/Likely pathogenic 180827 rs267606706 11:119148891-119148891 11:119278181-119278181 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.1471C>G (p.Pro491Ala) SNV Pathogenic/Likely pathogenic 181503 rs397507539 12:112926851-112926851 12:112489047-112489047 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.108A>G (p.Ile36Met) SNV Pathogenic/Likely pathogenic 163768 rs727503109 12:25398211-25398211 12:25245277-25245277 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.182A>C (p.Asp61Ala) SNV Pathogenic/Likely pathogenic 179221 rs121918461 12:112888166-112888166 12:112450362-112450362 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) SNV Pathogenic/Likely pathogenic 177754 rs121918453 12:112888198-112888198 12:112450394-112450394 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr) SNV Pathogenic/Likely pathogenic 164998 rs727503381 12:112892440-112892440 12:112454636-112454636 NNN008 Noonan Syndrome 1 CBL NM_005188.4(CBL):c.1228-2A>G SNV Pathogenic/Likely pathogenic 177959 rs727504426 11:119149218-119149218 11:119278508-119278508 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*20T>G SNV Pathogenic/Likely pathogenic 45127 rs397517042 12:25362830-25362830 12:25209896-25209896 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.1132A>G (p.Thr378Ala) SNV Pathogenic/Likely pathogenic 45344 rs397517146 2:39251221-39251221 2:39024080-39024080 NNN008 Noonan Syndrome 1 CBL NM_005188.3(CBL):c.1096-4_1096-1del deletion Pathogenic/Likely pathogenic 45197 rs397517077 11:119148872-119148875 11:119278162-119278165 NNN008 Noonan Syndrome 1 BRAF NM_001374258.1(BRAF):c.785A>C (p.Gln262Pro) SNV Pathogenic/Likely pathogenic 44831 rs397516904 7:140501287-140501287 7:140801487-140801487 NNN008 Noonan Syndrome 1 RAF1 NM_001354689.3(RAF1):c.766A>G (p.Arg256Gly) SNV Pathogenic/Likely pathogenic 44631 rs397516825 3:12645703-12645703 3:12604204-12604204 NNN008 Noonan Syndrome 1 BRAF NM_001374258.1(BRAF):c.1863T>A (p.Asn621Lys) SNV Pathogenic/Likely pathogenic 44811 rs397516895 7:140453192-140453192 7:140753392-140753392 NNN008 Noonan Syndrome 1 BRAF NM_001374258.1(BRAF):c.1922A>C (p.Lys641Thr) SNV Pathogenic/Likely pathogenic 44818 rs397507484 7:140453133-140453133 7:140753333-140753333 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg) SNV Pathogenic/Likely pathogenic 44603 rs397516801 12:112888193-112888193 12:112450389-112450389 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.774G>T (p.Glu258Asp) SNV Pathogenic/Likely pathogenic 44613 rs397516809 12:112910765-112910765 12:112472961-112472961 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.2183A>T (p.Lys728Ile) SNV Pathogenic/Likely pathogenic 40699 rs397517156 2:39239474-39239474 2:39012333-39012333 NNN008 Noonan Syndrome 1 RAF1 NM_001354689.3(RAF1):c.1483T>C (p.Phe495Leu) SNV Pathogenic/Likely pathogenic 40617 rs730881003 3:12627293-12627293 3:12585794-12585794 NNN008 Noonan Syndrome 1 RAF1 NM_001354689.3(RAF1):c.1517A>G (p.Asp506Gly) SNV Pathogenic/Likely pathogenic 40618 rs397516815 3:12627259-12627259 3:12585760-12585760 NNN008 Noonan Syndrome 1 RAF1 NM_001354689.3(RAF1):c.781C>G (p.Pro261Ala) SNV Pathogenic/Likely pathogenic 40605 rs121434594 3:12645688-12645688 3:12604189-12604189 NNN008 Noonan Syndrome 1 RAF1 NM_001354689.3(RAF1):c.782C>G (p.Pro261Arg) SNV Pathogenic/Likely pathogenic 40606 rs397516828 3:12645687-12645687 3:12604188-12604188 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) SNV Pathogenic/Likely pathogenic 40526 rs397507530 12:112910837-112910837 12:112473033-112473033 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.1505C>T (p.Ser502Leu) SNV Pathogenic/Likely pathogenic 40557 rs397507544 12:112926885-112926885 12:112489081-112489081 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys) SNV Pathogenic/Likely pathogenic 40523 rs397507527 12:112910793-112910793 12:112472989-112472989 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) SNV Pathogenic/Likely pathogenic 40528 rs397507531 12:112910844-112910844 12:112473040-112473040 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg) SNV Pathogenic/Likely pathogenic 40518 rs397507523 12:112910758-112910758 12:112472954-112472954 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys) SNV Pathogenic/Likely pathogenic 40507 rs397507518 12:112888312-112888312 12:112450508-112450508 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.329A>C (p.Glu110Ala) SNV Pathogenic/Likely pathogenic 40508 rs397507519 12:112888313-112888313 12:112450509-112450509 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu) SNV Pathogenic/Likely pathogenic 40499 rs397507512 12:112888195-112888195 12:112450391-112450391 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro) SNV Pathogenic/Likely pathogenic 40500 rs121918453 12:112888198-112888198 12:112450394-112450394 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) SNV Pathogenic/Likely pathogenic 40489 rs397507506 12:112888158-112888158 12:112450354-112450354 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*12A>G SNV Pathogenic/Likely pathogenic 40465 rs104894360 12:25362838-25362838 12:25209904-25209904 NNN008 Noonan Syndrome 1 BRAF NM_001374258.1(BRAF):c.769C>A (p.Gln257Lys) SNV Pathogenic/Likely pathogenic 40351 rs397507469 7:140501303-140501303 7:140801503-140801503 NNN008 Noonan Syndrome 1 BRAF NM_001374258.1(BRAF):c.721A>C (p.Thr241Pro) SNV Pathogenic/Likely pathogenic 29807 rs387906661 7:140501351-140501351 7:140801551-140801551 NNN008 Noonan Syndrome 1 BRAF NM_001374258.1(BRAF):c.722C>T (p.Thr241Met) SNV Pathogenic/Likely pathogenic 29805 rs387906660 7:140501350-140501350 7:140801550-140801550 NNN008 Noonan Syndrome 1 BRAF NM_001374258.1(BRAF):c.1621G>A (p.Glu541Lys) SNV Pathogenic/Likely pathogenic 13977 rs180177038 7:140477807-140477807 7:140778007-140778007 NNN008 Noonan Syndrome 1 BRAF NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) SNV Pathogenic/Likely pathogenic 13981 rs180177042 7:140449165-140449165 7:140749365-140749365 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.1529A>G (p.Gln510Arg) SNV Pathogenic/Likely pathogenic 13345 rs121918470 12:112926909-112926909 12:112489105-112489105 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) SNV Pathogenic/Likely pathogenic 13328 rs121918456 12:112910827-112910827 12:112473023-112473023 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) SNV Pathogenic/Likely pathogenic 13325 rs121918454 12:112888199-112888199 12:112450395-112450395 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.101C>G (p.Pro34Arg) SNV Pathogenic/Likely pathogenic 12590 rs104894366 12:25398218-25398218 12:25245284-25245284 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.13A>G (p.Lys5Glu) SNV Likely pathogenic 12596 rs193929331 12:25398306-25398306 12:25245372-25245372 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.1653_1655del (p.Arg552del) deletion Likely pathogenic 801667 2:39249914-39249916 2:39022773-39022775 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.1271C>T (p.Pro424Leu) SNV Likely pathogenic 807476 12:112924325-112924325 12:112486521-112486521 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.1867T>A (p.Phe623Ile) SNV Likely pathogenic 636262 2:39241979-39241979 2:39014838-39014838 NNN008 Noonan Syndrome 1 RIT1 NM_006912.6(RIT1):c.233G>A (p.Gly78Glu) SNV Likely pathogenic 560679 rs1557960268 1:155874526-155874526 1:155904735-155904735 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.1293_1294delinsGA (p.Trp432Arg) indel Likely pathogenic 667413 2:39250275-39250276 2:39023134-39023135 NNN008 Noonan Syndrome 1 SOS2 NM_006939.4(SOS2):c.1126A>T (p.Thr376Ser) SNV Likely pathogenic 684625 14:50628270-50628270 14:50161552-50161552 NNN008 Noonan Syndrome 1 SOS2 NM_006939.4(SOS2):c.791C>A (p.Thr264Lys) SNV Likely pathogenic 684626 14:50649248-50649248 14:50182530-50182530 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.2671G>A (p.Glu891Lys) SNV Likely pathogenic 505408 rs1553353452 2:39234174-39234174 2:39007033-39007033 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.959A>G (p.Asn320Ser) SNV Likely pathogenic 522720 rs1398859175 12:112915686-112915686 12:112477882-112477882 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile) SNV Likely pathogenic 40484 rs397507503 12:112888139-112888139 12:112450335-112450335 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.853T>G (p.Phe285Val) SNV Likely pathogenic 40527 rs397507531 12:112910844-112910844 12:112473040-112473040 NNN008 Noonan Syndrome 1 RAF1 NM_001354689.3(RAF1):c.769T>C (p.Ser257Pro) SNV Likely pathogenic 40600 rs727505017 3:12645700-12645700 3:12604201-12604201 NNN008 Noonan Syndrome 1 RAF1 NM_001354689.3(RAF1):c.788T>G (p.Val263Gly) SNV Likely pathogenic 40607 rs397516830 3:12645681-12645681 3:12604182-12604182 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) SNV Likely pathogenic 44614 rs397507527 12:112910793-112910793 12:112472989-112472989 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.235C>A (p.Gln79Lys) SNV Likely pathogenic 44605 rs397516803 12:112888219-112888219 12:112450415-112450415 NNN008 Noonan Syndrome 1 MAP2K2 NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys) SNV Likely pathogenic 40813 rs727504382 19:4101103-4101103 19:4101105-4101105 NNN008 Noonan Syndrome 1 RAF1 NM_001354689.3(RAF1):c.768G>C (p.Arg256Ser) SNV Likely pathogenic 44632 rs397516826 3:12645701-12645701 3:12604202-12604202 NNN008 Noonan Syndrome 1 BRAF NM_001374258.1(BRAF):c.793G>C (p.Gly265Arg) SNV Likely pathogenic 44832 rs397516905 7:140501279-140501279 7:140801479-140801479 NNN008 Noonan Syndrome 1 BRAF NM_001374258.1(BRAF):c.1529C>G (p.Thr510Arg) SNV Likely pathogenic 44804 rs397516891 7:140481399-140481399 7:140781599-140781599 NNN008 Noonan Syndrome 1 BRAF NM_001374258.1(BRAF):c.739T>G (p.Phe247Val) SNV Likely pathogenic 44830 rs397516903 7:140501333-140501333 7:140801533-140801533 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*8G>T SNV Likely pathogenic 45126 rs397517041 12:25362842-25362842 12:25209908-25209908 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.3022T>C (p.Tyr1008His) SNV Likely pathogenic 45358 rs397517163 2:39224122-39224122 2:38996981-38996981 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.335C>G (p.Pro112Arg) SNV Likely pathogenic 45361 rs397517166 2:39285824-39285824 2:39058683-39058683 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.206A>T (p.Glu69Val) SNV Likely pathogenic 164997 rs727503380 12:112888190-112888190 12:112450386-112450386 NNN008 Noonan Syndrome 1 BRAF NM_001374258.1(BRAF):c.1569A>C (p.Lys523Asn) SNV Likely pathogenic 177878 rs727504375 7:140477859-140477859 7:140778059-140778059 NNN008 Noonan Syndrome 1 CBL NM_005188.4(CBL):c.1099C>A (p.Gln367Lys) SNV Likely pathogenic 178870 rs727504504 11:119148879-119148879 11:119278169-119278169 NNN008 Noonan Syndrome 1 BRAF NM_001374258.1(BRAF):c.2255C>A (p.Ala752Asp) SNV Likely pathogenic 162795 rs727502904 7:140434563-140434563 7:140734763-140734763 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.512T>C (p.Val171Ala) SNV Likely pathogenic 45373 rs397517174 2:39281963-39281963 2:39054822-39054822 NNN008 Noonan Syndrome 1 RAF1 NM_001354689.3(RAF1):c.285C>G (p.Cys95Trp) SNV Likely pathogenic 165011 rs727503384 3:12653484-12653484 3:12611985-12611985 NNN008 Noonan Syndrome 1 RAF1 NM_001354689.3(RAF1):c.1232G>T (p.Arg411Met) SNV Likely pathogenic 155829 rs587782972 3:12633228-12633228 3:12591729-12591729 NNN008 Noonan Syndrome 1 RIT1 NM_006912.6(RIT1):c.151G>T (p.Asp51Tyr) SNV Likely pathogenic 183402 rs869025190 1:155880253-155880253 1:155910462-155910462 NNN008 Noonan Syndrome 1 RAF1 NM_001354689.3(RAF1):c.775T>C (p.Ser259Pro) SNV Likely pathogenic 228288 rs3730271 3:12645694-12645694 3:12604195-12604195 NNN008 Noonan Syndrome 1 RIT1 NM_006912.6(RIT1):c.251C>T (p.Ala84Val) SNV Likely pathogenic 183410 rs869025196 1:155874280-155874280 1:155904489-155904489 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.264A>G (p.Lys88=) SNV Conflicting interpretations of pathogenicity 227471 rs370920665 12:25380194-25380194 12:25227260-25227260 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*41_*46del deletion Conflicting interpretations of pathogenicity 307227 rs886048967 12:112943635-112943640 12:112505831-112505836 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.1867T>G (p.Phe623Val) SNV Conflicting interpretations of pathogenicity 179739 rs727505093 2:39241979-39241979 2:39014838-39014838 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*50C>T SNV Conflicting interpretations of pathogenicity 138845 rs730880328 12:112943646-112943646 12:112505842-112505842 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.1989A>C (p.Ile663=) SNV Conflicting interpretations of pathogenicity 139227 rs587781172 2:39241082-39241082 2:39013941-39013941 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu) SNV Conflicting interpretations of pathogenicity 177887 rs141140214 12:112940030-112940030 12:112502226-112502226 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*325G>A SNV Conflicting interpretations of pathogenicity 307228 rs192080780 12:112943921-112943921 12:112506117-112506117 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp) SNV Conflicting interpretations of pathogenicity 44609 rs143433437 12:112892398-112892398 12:112454594-112454594 NNN008 Noonan Syndrome 1 BRAF NM_001374258.1(BRAF):c.722C>A (p.Thr241Lys) SNV Conflicting interpretations of pathogenicity 44829 rs387906660 7:140501350-140501350 7:140801550-140801550 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.198A>G (p.Ala66=) SNV Conflicting interpretations of pathogenicity 45118 rs200229810 12:25380260-25380260 12:25227326-25227326 NNN008 Noonan Syndrome 1 BRAF NM_004333.6(BRAF):c.2128-15dup duplication Conflicting interpretations of pathogenicity 44820 rs373442098 7:140434574-140434575 7:140734774-140734775 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.1385T>A (p.Phe462Tyr) SNV Conflicting interpretations of pathogenicity 40674 rs730881043 2:39250184-39250184 2:39023043-39023043 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.824A>C (p.Asn275Thr) SNV Conflicting interpretations of pathogenicity 40524 rs397507528 12:112910815-112910815 12:112473011-112473011 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.1048T>G (p.Ser350Ala) SNV Uncertain significance 40540 rs146571700 12:112915775-112915775 12:112477971-112477971 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.3290G>C (p.Ser1097Thr) SNV Uncertain significance 40723 rs727505379 2:39222320-39222320 2:38995179-38995179 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.3392G>A (p.Arg1131Lys) SNV Uncertain significance 40728 rs768113420 2:39214732-39214732 2:38987591-38987591 NNN008 Noonan Syndrome 1 RAF1 NM_001354689.3(RAF1):c.452T>C (p.Phe151Ser) SNV Uncertain significance 40592 rs587782971 3:12650394-12650394 3:12608895-12608895 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.233T>G (p.Phe78Cys) SNV Uncertain significance 40646 rs201352584 2:39285926-39285926 2:39058785-39058785 NNN008 Noonan Syndrome 1 MAP2K2 NM_030662.3(MAP2K2):c.26T>C (p.Leu9Pro) SNV Uncertain significance 40765 rs758307267 19:4123847-4123847 19:4123850-4123850 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.473G>C (p.Gly158Ala) SNV Uncertain significance 488168 rs1555267825 12:112891139-112891139 12:112453335-112453335 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.1579C>T (p.Arg527Cys) SNV Uncertain significance 488166 rs191525506 12:112926959-112926959 12:112489155-112489155 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.1599+4C>A SNV Uncertain significance 488167 rs142606486 12:112926983-112926983 12:112489179-112489179 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.1379+6A>G SNV Uncertain significance 496182 rs746958309 12:112924439-112924439 12:112486635-112486635 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.1727G>T (p.Arg576Ile) SNV Uncertain significance 503551 rs1553356023 2:39249842-39249842 2:39022701-39022701 NNN008 Noonan Syndrome 1 MAP2K2 NM_030662.3(MAP2K2):c.325C>G (p.Pro109Ala) SNV Uncertain significance 410630 rs1060502983 19:4110632-4110632 19:4110634-4110634 NNN008 Noonan Syndrome 1 A2ML1 NM_144670.6(A2ML1):c.1417G>T (p.Asp473Tyr) SNV Uncertain significance 434033 rs201950472 12:8995898-8995898 12:8843302-8843302 NNN008 Noonan Syndrome 1 MAP2K1 NM_002755.3(MAP2K1):c.961C>T (p.Pro321Ser) SNV Uncertain significance 582017 rs771613524 15:66781553-66781553 15:66489215-66489215 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.472_473insTT (p.Ser158fs) insertion Uncertain significance 582390 rs760978291 19:50139090-50139091 19:49635833-49635834 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.454-6C>T SNV Uncertain significance 576592 rs1568436933 19:50139115-50139115 19:49635858-49635858 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.158A>T (p.Tyr53Phe) SNV Uncertain significance 579337 rs908791453 19:50140383-50140383 19:49637126-49637126 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.649C>G (p.Leu217Val) SNV Uncertain significance 565489 rs988964363 19:50138841-50138841 19:49635584-49635584 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.400G>A (p.Asp134Asn) SNV Uncertain significance 569899 rs374650566 19:50139929-50139929 19:49636672-49636672 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.631G>A (p.Gly211Arg) SNV Uncertain significance 582576 rs369588682 19:50138859-50138859 19:49635602-49635602 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.623A>G (p.Lys208Arg) SNV Uncertain significance 577262 rs1568436746 19:50138867-50138867 19:49635610-49635610 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.167C>G (p.Ser56Cys) SNV Uncertain significance 573868 rs537601977 19:50140374-50140374 19:49637117-49637117 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.49G>T (p.Gly17Trp) SNV Uncertain significance 575657 rs373359206 19:50143307-50143307 19:49640050-49640050 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.338G>A (p.Arg113Gln) SNV Uncertain significance 572125 rs766259420 19:50140087-50140087 19:49636830-49636830 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.175G>C (p.Asp59His) SNV Uncertain significance 575349 rs775437600 19:50140366-50140366 19:49637109-49637109 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.515C>T (p.Ser172Leu) SNV Uncertain significance 527792 rs754342165 19:50139048-50139048 19:49635791-49635791 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.409G>A (p.Val137Ile) SNV Uncertain significance 527789 rs757080959 19:50139920-50139920 19:49636663-49636663 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.371C>T (p.Thr124Met) SNV Uncertain significance 527793 rs369508242 19:50139958-50139958 19:49636701-49636701 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.64G>T (p.Gly22Trp) SNV Uncertain significance 527790 rs754976061 19:50143292-50143292 19:49640035-49640035 NNN008 Noonan Syndrome 1 MAP2K2 NM_030662.4(MAP2K2):c.1109A>G (p.Lys370Arg) SNV Uncertain significance 666426 19:4090690-4090690 19:4090692-4090692 NNN008 Noonan Syndrome 1 BRAF NM_004333.6(BRAF):c.1205C>G (p.Pro402Arg) SNV Uncertain significance 560678 rs199927105 7:140482930-140482930 7:140783130-140783130 NNN008 Noonan Syndrome 1 BRAF NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys) SNV Uncertain significance 561797 rs1562939198 7:140449139-140449139 7:140749339-140749339 NNN008 Noonan Syndrome 1 A2ML1 NM_144670.6(A2ML1):c.3397A>C (p.Asn1133His) SNV Uncertain significance 559445 rs1466413438 12:9013788-9013788 12:8861192-8861192 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.1361C>T (p.Pro454Leu) SNV Uncertain significance 591599 rs1566185599 12:112924415-112924415 12:112486611-112486611 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.572G>A (p.Arg191Gln) SNV Uncertain significance 641321 19:50138991-50138991 19:49635734-49635734 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.457C>A (p.Pro153Thr) SNV Uncertain significance 645740 19:50139106-50139106 19:49635849-49635849 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.427A>T (p.Lys143Ter) SNV Uncertain significance 665777 19:50139902-50139902 19:49636645-49636645 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.74C>T (p.Pro25Leu) SNV Uncertain significance 642527 19:50143282-50143282 19:49640025-49640025 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.627G>T (p.Lys209Asn) SNV Uncertain significance 849110 19:50138863-50138863 19:49635606-49635606 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.394C>T (p.Arg132Cys) SNV Uncertain significance 848157 19:50139935-50139935 19:49636678-49636678 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.352G>A (p.Glu118Lys) SNV Uncertain significance 854508 19:50139977-50139977 19:49636720-49636720 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.307G>A (p.Gly103Ser) SNV Uncertain significance 862707 19:50140118-50140118 19:49636861-49636861 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.147C>A (p.Phe49Leu) SNV Uncertain significance 852666 19:50143209-50143209 19:49639952-49639952 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.94C>T (p.Leu32=) SNV Uncertain significance 842327 19:50143262-50143262 19:49640005-49640005 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.11G>C (p.Gly4Ala) SNV Uncertain significance 841889 19:50143345-50143345 19:49640088-49640088 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.241+5G>A SNV Uncertain significance 856413 19:50140295-50140295 19:49637038-49637038 NNN008 Noonan Syndrome 1 PTPN11 NM_001320141.2(RPL6):c.-296G>C SNV Uncertain significance 882155 12:112856599-112856599 12:112418795-112418795 NNN008 Noonan Syndrome 1 PTPN11 NM_001320141.2(RPL6):c.-322C>T SNV Uncertain significance 882403 12:112856625-112856625 12:112418821-112418821 NNN008 Noonan Syndrome 1 PTPN11 NC_000012.12:g.112418936G>T SNV Uncertain significance 880815 12:112856740-112856740 12:112418936-112418936 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.-161T>A SNV Uncertain significance 880816 12:112856755-112856755 12:112418951-112418951 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.-151C>A SNV Uncertain significance 880817 12:112856765-112856765 12:112418961-112418961 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.-77G>A SNV Uncertain significance 882208 12:112856839-112856839 12:112419035-112419035 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.-71C>T SNV Uncertain significance 882209 12:112856845-112856845 12:112419041-112419041 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.*64C>G SNV Uncertain significance 880940 12:112943660-112943660 12:112505856-112505856 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.*474A>G SNV Uncertain significance 882568 12:112944070-112944070 12:112506266-112506266 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.*673G>A SNV Uncertain significance 882569 12:112944269-112944269 12:112506465-112506465 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.*682T>C SNV Uncertain significance 883350 12:112944278-112944278 12:112506474-112506474 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.*684G>A SNV Uncertain significance 883351 12:112944280-112944280 12:112506476-112506476 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.*720C>T SNV Uncertain significance 880986 12:112944316-112944316 12:112506512-112506512 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.*799G>A SNV Uncertain significance 882349 12:112944395-112944395 12:112506591-112506591 NNN008 Noonan Syndrome 1 PTPN11 NM_080601.3(PTPN11):c.762_764ACA[2] (p.Gln257del) short repeat Uncertain significance 804174 12:112910753-112910755 12:112472949-112472951 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.*802G>A SNV Uncertain significance 882617 12:112944398-112944398 12:112506594-112506594 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.*1038G>A SNV Uncertain significance 883395 12:112944634-112944634 12:112506830-112506830 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.*1419G>A SNV Uncertain significance 881046 12:112945015-112945015 12:112507211-112507211 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.*1520C>T SNV Uncertain significance 881504 12:112945116-112945116 12:112507312-112507312 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.*1616C>T SNV Uncertain significance 882664 12:112945212-112945212 12:112507408-112507408 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.*1830G>A SNV Uncertain significance 881085 12:112945426-112945426 12:112507622-112507622 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.*2096T>G SNV Uncertain significance 881550 12:112945692-112945692 12:112507888-112507888 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.*2150G>T SNV Uncertain significance 881551 12:112945746-112945746 12:112507942-112507942 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.*2179C>T SNV Uncertain significance 882713 12:112945775-112945775 12:112507971-112507971 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.*2608C>T SNV Uncertain significance 883488 12:112946204-112946204 12:112508400-112508400 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.*2822A>G SNV Uncertain significance 881125 12:112946418-112946418 12:112508614-112508614 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.*3971A>G SNV Uncertain significance 881174 12:112947567-112947567 12:112509763-112509763 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.1232C>T (p.Thr411Met) SNV Uncertain significance 13341 rs121918467 12:112924286-112924286 12:112486482-112486482 NNN008 Noonan Syndrome 1 BRAF NM_001374258.1(BRAF):c.1357G>A (p.Val453Met) SNV Uncertain significance 44799 rs377093637 7:140482898-140482898 7:140783098-140783098 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.1380-14C>G SNV Uncertain significance 36707 rs193922657 12:112926233-112926233 12:112488429-112488429 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.-139G>A SNV Uncertain significance 307223 rs886048964 12:112856777-112856777 12:112418973-112418973 NNN008 Noonan Syndrome 1 MAP2K1 NM_006049.4(SNAPC5):c.22-143C>T SNV Uncertain significance 316840 rs886051367 15:66783198-66783198 15:66490860-66490860 NNN008 Noonan Syndrome 1 MAP2K1 NM_006049.4(SNAPC5):c.22-512C>A SNV Uncertain significance 316843 rs886051368 15:66783567-66783567 15:66491229-66491229 NNN008 Noonan Syndrome 1 MAP2K1 NM_006049.4(SNAPC5):c.22-513C>A SNV Uncertain significance 316844 rs886051369 15:66783568-66783568 15:66491230-66491230 NNN008 Noonan Syndrome 1 MAP2K1 NM_006049.4(SNAPC5):c.22-806del deletion Uncertain significance 316850 rs886051370 15:66783861-66783861 15:66491523-66491523 NNN008 Noonan Syndrome 1 MAP2K1 NM_006049.4(SNAPC5):c.22-815dup duplication Uncertain significance 316849 rs886051370 15:66783860-66783861 15:66491522-66491523 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.853+8T>C SNV Uncertain significance 307225 rs886048966 12:112910852-112910852 12:112473048-112473048 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*2446G>A SNV Uncertain significance 308088 rs886049187 12:25360404-25360404 12:25207470-25207470 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*1622G>A SNV Uncertain significance 308107 rs886049194 12:25361228-25361228 12:25208294-25208294 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*986T>C SNV Uncertain significance 308113 rs559143985 12:25361864-25361864 12:25208930-25208930 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*297C>T SNV Uncertain significance 308122 rs886049197 12:25362553-25362553 12:25209619-25209619 NNN008 Noonan Syndrome 1 MAP2K1 NM_002755.3(MAP2K1):c.-461C>T SNV Uncertain significance 316829 rs886051361 15:66679225-66679225 15:66386887-66386887 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*1588C>G SNV Uncertain significance 307247 rs886048974 12:112945184-112945184 12:112507380-112507380 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*1806G>A SNV Uncertain significance 307250 rs766598691 12:112945402-112945402 12:112507598-112507598 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*2928A>T SNV Uncertain significance 307257 rs565075386 12:112946524-112946524 12:112508720-112508720 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*4619T>C SNV Uncertain significance 308054 rs768891600 12:25358231-25358231 12:25205297-25205297 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*4549G>C SNV Uncertain significance 308056 rs545014897 12:25358301-25358301 12:25205367-25205367 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*1157_*1159ATG[17] short repeat Uncertain significance 307239 rs80269561 12:112944750-112944751 12:112506946-112506947 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*1157_*1159ATG[16] short repeat Uncertain significance 307241 rs80269561 12:112944750-112944751 12:112506946-112506947 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*3875_*3878del deletion Uncertain significance 308067 rs886049180 12:25358972-25358975 12:25206038-25206041 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*3620C>T SNV Uncertain significance 308073 rs886049181 12:25359230-25359230 12:25206296-25206296 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*2815C>T SNV Uncertain significance 308083 rs886049185 12:25360035-25360035 12:25207101-25207101 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*1752A>G SNV Uncertain significance 308103 rs763217196 12:25361098-25361098 12:25208164-25208164 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*1326C>T SNV Uncertain significance 308109 rs574966178 12:25361524-25361524 12:25208590-25208590 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*2605G>A SNV Uncertain significance 308085 rs779071703 12:25360245-25360245 12:25207311-25207311 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*2012T>C SNV Uncertain significance 308093 rs886049190 12:25360838-25360838 12:25207904-25207904 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*314C>T SNV Uncertain significance 308121 rs150334904 12:25362536-25362536 12:25209602-25209602 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.-128C>G SNV Uncertain significance 308125 rs886049199 12:25403801-25403801 12:25250867-25250867 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.-179G>C SNV Uncertain significance 307222 rs545369072 12:112856737-112856737 12:112418933-112418933 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*656del deletion Uncertain significance 307230 rs886048968 12:112944241-112944241 12:112506437-112506437 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*740C>T SNV Uncertain significance 307233 rs886048969 12:112944336-112944336 12:112506532-112506532 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*1729A>G SNV Uncertain significance 307248 rs886048975 12:112945325-112945325 12:112507521-112507521 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*1946G>A SNV Uncertain significance 307251 rs886048976 12:112945542-112945542 12:112507738-112507738 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*2907A>C SNV Uncertain significance 307255 rs886048979 12:112946503-112946503 12:112508699-112508699 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*1035A>G SNV Uncertain significance 307238 rs886048970 12:112944631-112944631 12:112506827-112506827 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*3575T>C SNV Uncertain significance 308074 rs749403585 12:25359275-25359275 12:25206341-25206341 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*3323T>C SNV Uncertain significance 308078 rs886049182 12:25359527-25359527 12:25206593-25206593 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*3269C>T SNV Uncertain significance 308080 rs886049183 12:25359581-25359581 12:25206647-25206647 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*3092_*3095del deletion Uncertain significance 308081 rs886049184 12:25359755-25359758 12:25206821-25206824 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*2391_*2392insC insertion Uncertain significance 308090 rs886049188 12:25360458-25360459 12:25207524-25207525 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*1826C>G SNV Uncertain significance 308098 rs539213224 12:25361024-25361024 12:25208090-25208090 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*671C>T SNV Uncertain significance 308116 rs566222739 12:25362179-25362179 12:25209245-25209245 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*491C>G SNV Uncertain significance 308120 rs886049196 12:25362359-25362359 12:25209425-25209425 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*180A>G SNV Uncertain significance 308123 rs886049198 12:25362670-25362670 12:25209736-25209736 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*16T>C SNV Uncertain significance 308124 rs779184057 12:25362834-25362834 12:25209900-25209900 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.-176_-174CGG[4] short repeat Uncertain significance 308126 rs886049200 12:25403840-25403841 12:25250906-25250907 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.-180G>A SNV Uncertain significance 308127 rs886049201 12:25403853-25403853 12:25250919-25250919 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.-245C>G SNV Uncertain significance 307221 rs886048963 12:112856671-112856671 12:112418867-112418867 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.14+8G>T SNV Uncertain significance 307224 rs886048965 12:112856937-112856937 12:112419133-112419133 NNN008 Noonan Syndrome 1 MAP2K1 NM_006049.4(SNAPC5):c.22-678A>G SNV Uncertain significance 316846 rs770655370 15:66783733-66783733 15:66491395-66491395 NNN008 Noonan Syndrome 1 BRAF NM_004333.6(BRAF):c.1166G>A (p.Arg389His) SNV Uncertain significance 372627 rs577372072 7:140487359-140487359 7:140787559-140787559 NNN008 Noonan Syndrome 1 BRAF NM_004333.6(BRAF):c.437G>A (p.Arg146Gln) SNV Uncertain significance 372564 rs557241012 7:140534476-140534476 7:140834676-140834676 NNN008 Noonan Syndrome 1 MAP2K1 NM_002755.3(MAP2K1):c.-456C>G SNV Uncertain significance 316830 rs886051362 15:66679230-66679230 15:66386892-66386892 NNN008 Noonan Syndrome 1 MAP2K1 NM_002755.3(MAP2K1):c.-220C>T SNV Uncertain significance 316835 rs886051365 15:66679466-66679466 15:66387128-66387128 NNN008 Noonan Syndrome 1 MAP2K1 NM_002755.3(MAP2K1):c.503A>G (p.Lys168Arg) SNV Uncertain significance 316836 rs886051366 15:66735682-66735682 15:66443344-66443344 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*687C>T SNV Uncertain significance 307232 rs748512308 12:112944283-112944283 12:112506479-112506479 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*1015C>G SNV Uncertain significance 307237 rs538946251 12:112944611-112944611 12:112506807-112506807 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*1157_*1159ATG[13] short repeat Uncertain significance 307242 rs80269561 12:112944751-112944756 12:112506947-112506952 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*3300T>C SNV Uncertain significance 307262 rs886048980 12:112946896-112946896 12:112509092-112509092 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*4195G>A SNV Uncertain significance 308060 rs886049177 12:25358655-25358655 12:25205721-25205721 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*1332G>A SNV Uncertain significance 307243 rs886048973 12:112944928-112944928 12:112507124-112507124 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*3720T>C SNV Uncertain significance 307264 rs886048981 12:112947316-112947316 12:112509512-112509512 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*4643G>A SNV Uncertain significance 308053 rs886049176 12:25358207-25358207 12:25205273-25205273 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*4604G>A SNV Uncertain significance 308055 rs577486152 12:25358246-25358246 12:25205312-25205312 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*4187del deletion Uncertain significance 308061 rs34719539 12:25358663-25358663 12:25205729-25205729 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*4036A>G SNV Uncertain significance 308063 rs886049179 12:25358814-25358814 12:25205880-25205880 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*3803_*3804dup duplication Uncertain significance 308069 rs142323886 12:25359045-25359046 12:25206111-25206112 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*2493C>T SNV Uncertain significance 307252 rs886048977 12:112946089-112946089 12:112508285-112508285 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*2540G>T SNV Uncertain significance 307253 rs886048978 12:112946136-112946136 12:112508332-112508332 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*3672C>G SNV Uncertain significance 308071 rs188922523 12:25359178-25359178 12:25206244-25206244 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*2577G>A SNV Uncertain significance 308086 rs886049186 12:25360273-25360273 12:25207339-25207339 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*1967del deletion Uncertain significance 308094 rs886049191 12:25360883-25360883 12:25207949-25207949 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*1893A>G SNV Uncertain significance 308095 rs886049192 12:25360957-25360957 12:25208023-25208023 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*1831G>A SNV Uncertain significance 308097 rs531344668 12:25361019-25361019 12:25208085-25208085 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*886A>G SNV Uncertain significance 308115 rs886049195 12:25361964-25361964 12:25209030-25209030 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*659del deletion Uncertain significance 308117 rs756307694 12:25362191-25362191 12:25209257-25209257 NNN008 Noonan Syndrome 1 MAP2K1 NM_006049.4(SNAPC5):c.22-47_22-46del deletion Uncertain significance 316839 rs745540522 15:66783101-66783102 15:66490763-66490764 NNN008 Noonan Syndrome 1 MAP2K1 NM_006049.4(SNAPC5):c.22-788T>C SNV Uncertain significance 316847 rs138560168 15:66783843-66783843 15:66491505-66491505 NNN008 Noonan Syndrome 1 MAP2K1 NM_006049.4(SNAPC5):c.22-795A>G SNV Uncertain significance 316848 rs548081932 15:66783850-66783850 15:66491512-66491512 NNN008 Noonan Syndrome 1 MAP2K1 NM_002755.3(MAP2K1):c.-405T>G SNV Uncertain significance 316833 rs886051363 15:66679281-66679281 15:66386943-66386943 NNN008 Noonan Syndrome 1 MAP2K1 NM_002755.4(MAP2K1):c.1069-12C>A SNV Uncertain significance 316837 rs781412352 15:66782828-66782828 15:66490490-66490490 NNN008 Noonan Syndrome 1 MAP2K1 NM_002755.4(MAP2K1):c.1130C>T (p.Ser377Phe) SNV Uncertain significance 316838 rs371140798 15:66782901-66782901 15:66490563-66490563 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.1277A>C (p.His426Pro) SNV Uncertain significance 180175 rs727505389 12:112924331-112924331 12:112486527-112486527 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.389C>T (p.Ala130Val) SNV Uncertain significance 180861 rs730880473 12:25378609-25378609 12:25225675-25225675 NNN008 Noonan Syndrome 1 RIT1 NM_006912.6(RIT1):c.244T>A (p.Phe82Ile) SNV Uncertain significance 183406 rs869025194 1:155874287-155874287 1:155904496-155904496 NNN008 Noonan Syndrome 1 MAP2K1 NM_002755.3(MAP2K1):c.608A>G SNV Uncertain significance 167260 rs727503996 15:66774132-66774132 15:66481794-66481794 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.3433G>A (p.Asp1145Asn) SNV Uncertain significance 180167 rs727505383 2:39214691-39214691 2:38987550-38987550 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.1490G>A (p.Arg497Gln) SNV Uncertain significance 45348 rs371314838 2:39250079-39250079 2:39022938-39022938 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.*766del deletion Uncertain significance 336004 rs533720751 2:39212199-39212199 2:38985058-38985058 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.*298C>G SNV Uncertain significance 336012 rs886056021 2:39212667-39212667 2:38985526-38985526 NNN008 Noonan Syndrome 1 NRAS NM_002524.5(NRAS):c.*1062_*1063del deletion Uncertain significance 291965 rs775070295 1:115249652-115249653 1:114707031-114707032 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.*2208dup duplication Uncertain significance 335984 rs886056010 2:39210756-39210757 2:38983615-38983616 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.1190C>T (p.Thr397Met) SNV Uncertain significance 279919 rs767503386 12:112919975-112919975 12:112482171-112482171 NNN008 Noonan Syndrome 1 MAP2K1 NM_002755.3(MAP2K1):c.323G>T (p.Arg108Leu) SNV Uncertain significance 280446 rs727504819 15:66729115-66729115 15:66436777-66436777 NNN008 Noonan Syndrome 1 MAP2K2 NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met) SNV Uncertain significance 279960 rs117945277 19:4090612-4090612 19:4090614-4090614 NNN008 Noonan Syndrome 1 NRAS NM_002524.4(NRAS):c.-245C>T SNV Uncertain significance 291983 rs886045113 1:115259506-115259506 1:114716885-114716885 NNN008 Noonan Syndrome 1 NRAS NM_002524.5(NRAS):c.*935dup duplication Uncertain significance 291966 rs886045106 1:115249779-115249780 1:114707158-114707159 NNN008 Noonan Syndrome 1 NRAS NM_002524.4(NRAS):c.-132C>T SNV Uncertain significance 291978 rs886045109 1:115259393-115259393 1:114716772-114716772 NNN008 Noonan Syndrome 1 NRAS NM_002524.4(NRAS):c.-179G>C SNV Uncertain significance 291979 rs886045110 1:115259440-115259440 1:114716819-114716819 NNN008 Noonan Syndrome 1 NRAS NM_002524.4(NRAS):c.-209A>G SNV Uncertain significance 291981 rs886045111 1:115259470-115259470 1:114716849-114716849 NNN008 Noonan Syndrome 1 NRAS NM_002524.4(NRAS):c.-242G>C SNV Uncertain significance 291982 rs886045112 1:115259503-115259503 1:114716882-114716882 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*1536T>G SNV Uncertain significance 307246 rs371375321 12:112945132-112945132 12:112507328-112507328 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*2731G>A SNV Uncertain significance 307254 rs768622106 12:112946327-112946327 12:112508523-112508523 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*3231T>G SNV Uncertain significance 307260 rs769489372 12:112946827-112946827 12:112509023-112509023 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*3244A>G SNV Uncertain significance 307261 rs763237386 12:112946840-112946840 12:112509036-112509036 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*4019C>T SNV Uncertain significance 307265 rs886048982 12:112947615-112947615 12:112509811-112509811 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*3766A>G SNV Uncertain significance 308070 rs529959450 12:25359084-25359084 12:25206150-25206150 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*2360A>G SNV Uncertain significance 308091 rs886049189 12:25360490-25360490 12:25207556-25207556 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*1777A>G SNV Uncertain significance 308099 rs886049193 12:25361073-25361073 12:25208139-25208139 NNN008 Noonan Syndrome 1 CBL NM_005188.3(CBL):c.2519G>C (p.Cys840Ser) SNV Uncertain significance 180294 rs376536789 11:119170289-119170289 11:119299579-119299579 NNN008 Noonan Syndrome 1 DMPK NM_004409.5(DMPK):c.161-189T>C SNV Uncertain significance 222551 rs752437441 19:46283316-46283316 19:45780058-45780058 NNN008 Noonan Syndrome 1 RAF1 NM_001354689.3(RAF1):c.*729_*732AACA[4] short repeat Uncertain significance 343092 rs371820097 3:12625265-12625268 3:12583766-12583769 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.*3566_*3568del deletion Uncertain significance 335972 rs886056005 2:39209397-39209399 2:38982256-38982258 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.*2063_*2066dup duplication Uncertain significance 335985 rs886056011 2:39210898-39210899 2:38983757-38983758 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.*1694del deletion Uncertain significance 335989 rs767903412 2:39211271-39211271 2:38984130-38984130 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.*696G>A SNV Uncertain significance 336006 rs886056018 2:39212269-39212269 2:38985128-38985128 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.*3416_*3417del deletion Uncertain significance 335976 rs200892895 2:39209548-39209549 2:38982407-38982408 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.*3189_*3192del deletion Uncertain significance 335977 rs572584074 2:39209773-39209776 2:38982632-38982635 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.*2503_*2506dup duplication Uncertain significance 335980 rs886056007 2:39210458-39210459 2:38983317-38983318 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.*2048_*2050dup duplication Uncertain significance 335986 rs761591990 2:39210914-39210915 2:38983773-38983774 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.*1094_*1097delTTTG short repeat Uncertain significance 336000 rs886056016 2:39211868-39211871 2:38984727-38984730 NNN008 Noonan Syndrome 1 RAF1 NM_001354689.3(RAF1):c.*729_*732AACA[6] short repeat Uncertain significance 343091 rs371820097 3:12625264-12625265 3:12583765-12583766 NNN008 Noonan Syndrome 1 BRAF NM_004333.6(BRAF):c.2128-27_2128-16delinsTCT indel Uncertain significance 359046 rs886062016 7:140434586-140434597 7:140734786-140734797 NNN008 Noonan Syndrome 1 BRAF NM_004333.6(BRAF):c.2128-36dup duplication Uncertain significance 359047 rs60814637 7:140434597-140434598 7:140734797-140734798 NNN008 Noonan Syndrome 1 BRAF NM_004333.6(BRAF):c.2128-16_2128-15del deletion Uncertain significance 359045 rs886062015 7:140434585-140434586 7:140734785-140734786 NNN008 Noonan Syndrome 1 BRAF NM_004333.6(BRAF):c.2128-4del deletion Uncertain significance 359044 rs886062014 7:140434574-140434574 7:140734774-140734774 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.1174G>A (p.Ala392Thr) SNV Likely benign 224093 rs774356443 12:112919959-112919959 12:112482155-112482155 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.*2244_*2245dup duplication Likely benign 212289 rs3832123 2:39210719-39210720 2:38983578-38983579 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.*1606del deletion Likely benign 212288 rs34248802 2:39211359-39211359 2:38984218-38984218 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*1758_*1759del deletion Likely benign 308101 rs535478558 12:25361091-25361092 12:25208157-25208158 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*1748dup duplication Likely benign 308104 rs71065923 12:25361101-25361102 12:25208167-25208168 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*3522T>A SNV Likely benign 308075 rs1137189 12:25359328-25359328 12:25206394-25206394 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*3009A>G SNV Likely benign 308082 rs13096 12:25359841-25359841 12:25206907-25206907 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*2492C>T SNV Likely benign 308087 rs61764369 12:25360358-25360358 12:25207424-25207424 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*4426_*4427dup duplication Likely benign 308058 rs61764373 12:25358422-25358423 12:25205488-25205489 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*4186_*4187del deletion Likely benign 308062 rs34719539 12:25358663-25358664 12:25205729-25205730 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*3881A>C SNV Likely benign 308066 rs1137196 12:25358969-25358969 12:25206035-25206035 NNN008 Noonan Syndrome 1 NRAS NM_002524.4(NRAS):c.-208T>A SNV Likely benign 291980 rs2273267 1:115259469-115259469 1:114716848-114716848 NNN008 Noonan Syndrome 1 NRAS NM_002524.5(NRAS):c.*2510_*2515del deletion Likely benign 291957 rs549171175 1:115248200-115248205 1:114705579-114705584 NNN008 Noonan Syndrome 1 NRAS NM_002524.5(NRAS):c.*2965del deletion Likely benign 291946 rs61652108 1:115247750-115247750 1:114705129-114705129 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.*1333_*1336dup duplication Likely benign 335996 rs35969619 2:39211628-39211629 2:38984487-38984488 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.*2439del deletion Likely benign 335982 rs377250198 2:39210526-39210526 2:38983385-38983385 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.*399_*400insCA insertion Likely benign 336010 rs144104838 2:39212565-39212566 2:38985424-38985425 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.2511-13_2511-9del deletion Likely benign 180174 rs727503436 2:39234343-39234347 2:39007202-39007206 NNN008 Noonan Syndrome 1 MAP2K1 NM_002755.4(MAP2K1):c.1068+9A>G SNV Likely benign 180895 rs368800650 15:66782110-66782110 15:66489772-66489772 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.933+25T>C SNV Likely benign 180172 rs727505386 12:112915559-112915559 12:112477755-112477755 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.396A>T (p.Ala132=) SNV Likely benign 180171 rs727505385 2:39283957-39283957 2:39056816-39056816 NNN008 Noonan Syndrome 1 MAP2K1 NM_006049.4(SNAPC5):c.22-323C>A SNV Likely benign 316842 rs56366941 15:66783378-66783378 15:66491040-66491040 NNN008 Noonan Syndrome 1 MAP2K1 NM_006049.4(SNAPC5):c.22-206G>T SNV Likely benign 316841 rs14303 15:66783261-66783261 15:66490923-66490923 NNN008 Noonan Syndrome 1 MAP2K1 NM_002755.3(MAP2K1):c.-216_-215dupCG short repeat Likely benign 316834 rs141005341 15:66679464-66679465 15:66387126-66387127 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*1776C>T SNV Likely benign 308100 rs7973623 12:25361074-25361074 12:25208140-25208140 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*1094G>T SNV Likely benign 308112 rs61763590 12:25361756-25361756 12:25208822-25208822 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*3385del deletion Likely benign 308077 rs34176876 12:25359465-25359465 12:25206531-25206531 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*3273G>A SNV Likely benign 308079 rs61764371 12:25359577-25359577 12:25206643-25206643 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*3804dup duplication Likely benign 308068 rs142323886 12:25359045-25359046 12:25206111-25206112 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*4432A>G SNV Likely benign 308057 rs61764374 12:25358418-25358418 12:25205484-25205484 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*4200T>A SNV Likely benign 308059 rs12245 12:25358650-25358650 12:25205716-25205716 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*3907A>G SNV Likely benign 308065 rs8720 12:25358943-25358943 12:25206009-25206009 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*1157_*1159ATG[14] short repeat Likely benign 307240 rs80269561 12:112944751-112944753 12:112506947-112506949 NNN008 Noonan Syndrome 1 MAP2K1 NM_006049.4(SNAPC5):c.22-555C>T SNV Likely benign 316845 rs8684 15:66783610-66783610 15:66491272-66491272 NNN008 Noonan Syndrome 1 MAP2K1 NM_002755.3(MAP2K1):c.-408G>T SNV Likely benign 316832 rs536414539 15:66679278-66679278 15:66386940-66386940 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*1759A>G SNV Likely benign 308102 rs4597149 12:25361091-25361091 12:25208157-25208157 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*1708T>C SNV Likely benign 308105 rs7973450 12:25361142-25361142 12:25208208-25208208 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*1661T>C SNV Likely benign 308106 rs61764366 12:25361189-25361189 12:25208255-25208255 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*1204A>G SNV Likely benign 308110 rs7960917 12:25361646-25361646 12:25208712-25208712 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*2305A>G SNV Likely benign 308092 rs61764368 12:25360545-25360545 12:25207611-25207611 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*1886T>C SNV Likely benign 308096 rs115968671 12:25360964-25360964 12:25208030-25208030 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*1183G>A SNV Likely benign 308111 rs61763591 12:25361667-25361667 12:25208733-25208733 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*633T>C SNV Likely benign 308118 rs9266 12:25362217-25362217 12:25209283-25209283 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*2626T>G SNV Likely benign 308084 rs61764370 12:25360224-25360224 12:25207290-25207290 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*3498C>T SNV Likely benign 308076 rs1137188 12:25359352-25359352 12:25206418-25206418 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*3623T>A SNV Likely benign 308072 rs61764372 12:25359227-25359227 12:25206293-25206293 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*4022A>C SNV Likely benign 308064 rs12587 12:25358828-25358828 12:25205894-25205894 NNN008 Noonan Syndrome 1 MAP2K1 NM_002755.3(MAP2K1):c.-448C>T SNV Likely benign 316831 rs73469977 15:66679238-66679238 15:66386900-66386900 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*945T>C SNV Likely benign 308114 rs61763589 12:25361905-25361905 12:25208971-25208971 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*525T>C SNV Likely benign 308119 rs140080026 12:25362325-25362325 12:25209391-25209391 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*1539_*1541del deletion Likely benign 308108 rs200038818 12:25361309-25361311 12:25208375-25208377 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*2400dup duplication Likely benign 308089 rs56128001 12:25360449-25360450 12:25207515-25207516 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*1006del deletion Likely benign 307236 rs146940557 12:112944602-112944602 12:112506798-112506798 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.345-4G>A SNV Likely benign 703958 19:50139988-50139988 19:49636731-49636731 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.372G>A (p.Thr124=) SNV Likely benign 773964 19:50139957-50139957 19:49636700-49636700 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.516G>C (p.Ser172=) SNV Likely benign 705927 19:50139047-50139047 19:49635790-49635790 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.255G>A (p.Ala85=) SNV Likely benign 706868 19:50140170-50140170 19:49636913-49636913 NNN008 Noonan Syndrome 1 MAP2K1 NM_002755.4(MAP2K1):c.322C>T (p.Arg108Trp) SNV Likely benign 666419 15:66729114-66729114 15:66436776-66436776 NNN008 Noonan Syndrome 1 BRAF NM_001374258.1(BRAF):c.101C>T (p.Ala34Val) SNV Likely benign 666415 7:140624403-140624403 7:140924603-140924603 NNN008 Noonan Syndrome 1 HRAS NM_005343.4(HRAS):c.451-4C>T SNV Likely benign 666417 11:532759-532759 11:532759-532759 NNN008 Noonan Syndrome 1 MAP2K1 NM_002755.4(MAP2K1):c.577C>G (p.Pro193Ala) SNV Likely benign 666420 15:66774101-66774101 15:66481763-66481763 NNN008 Noonan Syndrome 1 MAP2K1 NM_002755.4(MAP2K1):c.872G>A (p.Arg291Lys) SNV Likely benign 666421 15:66777506-66777506 15:66485168-66485168 NNN008 Noonan Syndrome 1 MAP2K1 NM_002755.4(MAP2K1):c.1072C>T (p.His358Tyr) SNV Likely benign 666422 15:66782843-66782843 15:66490505-66490505 NNN008 Noonan Syndrome 1 MAP2K2 NM_030662.4(MAP2K2):c.149A>G (p.Gln50Arg) SNV Likely benign 666423 19:4117571-4117571 19:4117573-4117573 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.37C>A (p.Arg13=) SNV Likely benign 527788 rs1272875791 19:50143319-50143319 19:49640062-49640062 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.174C>T (p.Tyr58=) SNV Likely benign 527797 rs145282813 19:50140367-50140367 19:49637110-49637110 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.201G>A (p.Thr67=) SNV Likely benign 457984 rs1421164782 19:50140340-50140340 19:49637083-49637083 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.454-9T>C SNV Likely benign 457989 rs1490597941 19:50139118-50139118 19:49635861-49635861 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.231C>A (p.Ala77=) SNV Likely benign 527796 rs557964716 19:50140310-50140310 19:49637053-49637053 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.154-4C>G SNV Likely benign 457983 rs372925843 19:50140391-50140391 19:49637134-49637134 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.600G>A (p.Pro200=) SNV Likely benign 457990 rs183538580 19:50138890-50138890 19:49635633-49635633 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.362A>G (p.Lys121Arg) SNV Likely benign 527795 rs138124318 19:50139967-50139967 19:49636710-49636710 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.145T>C (p.Phe49Leu) SNV Likely benign 527791 rs151014532 19:50143211-50143211 19:49639954-49639954 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.568G>C (p.Val190Leu) SNV Likely benign 527794 rs2230917 19:50138995-50138995 19:49635738-49635738 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) SNV Likely benign 44607 rs397516805 12:112891058-112891058 12:112453254-112453254 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.48A>G (p.Ala16=) SNV Likely benign 44608 rs372736227 12:112884113-112884113 12:112446309-112446309 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.1449T>G (p.Gly483=) SNV Likely benign 44598 rs143238917 12:112926829-112926829 12:112489025-112489025 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) SNV Likely benign 44599 rs397516797 12:112940026-112940026 12:112502222-112502222 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.1705C>G (p.Leu569Val) SNV Likely benign 40686 rs200786705 2:39249864-39249864 2:39022723-39022723 NNN008 Noonan Syndrome 1 MAP2K1 NM_002755.3(MAP2K1):c.-85G>C SNV Likely benign 40704 rs112542693 15:66679601-66679601 15:66387263-66387263 NNN008 Noonan Syndrome 1 MAP2K1 NM_002755.4(MAP2K1):c.-31dup duplication Benign/Likely benign 40710 rs730880340 15:66679649-66679650 15:66387311-66387312 NNN008 Noonan Syndrome 1 MAP2K1 NM_002755.4(MAP2K1):c.-2A>G SNV Benign/Likely benign 40738 rs77796976 15:66679684-66679684 15:66387346-66387346 NNN008 Noonan Syndrome 1 BRAF NM_004333.6(BRAF):c.2128-5del deletion Benign/Likely benign 44821 rs373442098 7:140434575-140434575 7:140734775-140734775 NNN008 Noonan Syndrome 1 RAF1 NM_001354689.3(RAF1):c.321-21dup duplication Benign/Likely benign 44625 rs202103447 3:12650847-12650848 3:12609348-12609349 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*298T>G SNV Benign/Likely benign 40467 rs712 12:25362552-25362552 12:25209618-25209618 NNN008 Noonan Syndrome 1 BRAF NM_001374258.1(BRAF):c.78G>T (p.Glu26Asp) SNV Benign/Likely benign 40337 rs371877084 7:140624426-140624426 7:140924626-140924626 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.379C>T (p.Leu127=) SNV Benign/Likely benign 457986 rs145907892 19:50139950-50139950 19:49636693-49636693 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.*801C>T SNV Benign/Likely benign 882350 12:112944397-112944397 12:112506593-112506593 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.*2629A>G SNV Benign/Likely benign 883489 12:112946225-112946225 12:112508421-112508421 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.*2078G>A SNV Benign/Likely benign 881086 12:112945674-112945674 12:112507870-112507870 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*775G>A SNV Benign/Likely benign 307234 rs181946923 12:112944371-112944371 12:112506567-112506567 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*1536T>C SNV Benign/Likely benign 307245 rs371375321 12:112945132-112945132 12:112507328-112507328 NNN008 Noonan Syndrome 1 PTPN11 NM_001320141.2(RPL6):c.-326C>G SNV Benign/Likely benign 307219 rs377496292 12:112856629-112856629 12:112418825-112418825 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*838G>A SNV Benign/Likely benign 307235 rs142648640 12:112944434-112944434 12:112506630-112506630 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*3006G>A SNV Benign/Likely benign 307258 rs141870860 12:112946602-112946602 12:112508798-112508798 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*3043C>T SNV Benign/Likely benign 307259 rs41307084 12:112946639-112946639 12:112508835-112508835 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*1805C>T SNV Benign/Likely benign 307249 rs188162577 12:112945401-112945401 12:112507597-112507597 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*3381A>G SNV Benign/Likely benign 307263 rs374962107 12:112946977-112946977 12:112509173-112509173 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.1620C>T (p.His540=) SNV Benign/Likely benign 138842 rs587781132 12:112939968-112939968 12:112502164-112502164 NNN008 Noonan Syndrome 1 RAF1 NM_002880.3(RAF1):c.-415-1C>G SNV Benign/Likely benign 177923 rs61730434 3:12705701-12705701 3:12664202-12664202 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*329T>C SNV Benign/Likely benign 307229 rs576039073 12:112943925-112943925 12:112506121-112506121 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.-273G>A SNV Benign 307220 rs58805176 12:112856643-112856643 12:112418839-112418839 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.1650G>A (p.Ala550=) SNV Benign 138843 rs374896287 12:112939998-112939998 12:112502194-112502194 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.1203-20T>C SNV Benign 139235 rs112906251 2:39250386-39250386 2:39023245-39023245 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.558G>T (p.Arg186=) SNV Benign 178109 rs200920312 12:112892400-112892400 12:112454596-112454596 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.2673+14T>C SNV Benign 45353 rs183998234 2:39234158-39234158 2:39007017-39007017 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.1074+5G>C SNV Benign 45343 rs145155424 2:39262348-39262348 2:39035207-39035207 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.3391+7A>G SNV Benign 45362 rs201982464 2:39216404-39216404 2:38989263-38989263 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.53A>G (p.Asn18Ser) SNV Benign 135112 rs587778635 12:112884118-112884118 12:112446314-112446314 NNN008 Noonan Syndrome 1 MAP2K1 NM_002755.3(MAP2K1):c.694-12TC[4] short repeat Benign 94082 rs113913469 15:66777315-66777316 15:66484977-66484978 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.15-38C>T SNV Benign 180163 rs727505378 12:112884042-112884042 12:112446238-112446238 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.137+35G>A SNV Benign 180173 rs727505387 12:112884237-112884237 12:112446433-112446433 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.1599+26G>A SNV Benign 180177 rs727505390 12:112927005-112927005 12:112489201-112489201 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.1599+33A>G SNV Benign 180165 rs727505380 12:112927012-112927012 12:112489208-112489208 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.3:c.1-140delG deletion Benign 180176 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3:c.213+15C>G SNV Benign 180178 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.720+25C>G SNV Benign 180179 rs997344 2:39281730-39281730 2:39054589-39054589 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.-160A>G SNV Benign 163771 rs727503111 12:25403833-25403833 12:25250899-25250899 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.3347-20T>G SNV Benign 180166 rs727505382 2:39216475-39216475 2:38989334-38989334 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.3081+32A>G SNV Benign 180164 rs6723430 2:39224031-39224031 2:38996890-38996890 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.3081+26G>A SNV Benign 180169 rs186106971 2:39224037-39224037 2:38996896-38996896 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.2964+32T>G SNV Benign 180168 rs727505384 2:39224362-39224362 2:38997221-38997221 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.2791+53C>T SNV Benign 180170 rs7577088 2:39233500-39233500 2:39006359-39006359 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*1374G>C SNV Benign 307244 rs139266170 12:112944970-112944970 12:112507166-112507166 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*2927T>A SNV Benign 307256 rs190612693 12:112946523-112946523 12:112508719-112508719 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.*670G>A SNV Benign 307231 rs112287134 12:112944266-112944266 12:112506462-112506462 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.951G>A (p.Lys317=) SNV Benign 307226 rs576405446 12:112915678-112915678 12:112477874-112477874 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.54A>T (p.Gly18=) SNV Benign 707268 19:50143302-50143302 19:49640045-49640045 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.255C>T (p.His85=) SNV Benign 36708 rs61736914 12:112888239-112888239 12:112450435-112450435 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.526-8C>A SNV Benign 36709 rs184804143 12:112892360-112892360 12:112454556-112454556 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.243C>T (p.Ile81=) SNV Benign 457985 rs116683551 19:50140182-50140182 19:49636925-49636925 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.408C>T (p.Pro136=) SNV Benign 457988 rs114187560 19:50139921-50139921 19:49636664-49636664 NNN008 Noonan Syndrome 1 RRAS NM_006270.5(RRAS):c.397G>A (p.Asp133Asn) SNV Benign 457987 rs61760904 19:50139932-50139932 19:49636675-49636675 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.1221A>G (p.Gly407=) SNV Benign 436446 rs532529560 12:112920006-112920006 12:112482202-112482202 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.757-69T>C SNV Benign 40517 rs150087259 12:112910679-112910679 12:112472875-112472875 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.14+25G>C SNV Benign 40478 rs7972574 12:112856954-112856954 12:112419150-112419150 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.14+54C>A SNV Benign 40480 rs7973432 12:112856983-112856983 12:112419179-112419179 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.525+12G>C SNV Benign 40516 rs41304351 12:112891203-112891203 12:112453399-112453399 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.1093-9C>A SNV Benign 40542 rs12301915 12:112919869-112919869 12:112482065-112482065 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.1600-95C>T SNV Benign 40569 rs3741983 12:112939853-112939853 12:112502049-112502049 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) SNV Benign 40570 rs148176616 12:112940006-112940006 12:112502202-112502202 NNN008 Noonan Syndrome 1 RAF1 NM_002880.3(RAF1):c.-339_-338AG[1] short repeat Benign 40573 rs527774250 3:12705621-12705622 3:12664122-12664123 NNN008 Noonan Syndrome 1 RAF1 NM_001354689.3(RAF1):c.119G>A (p.Arg40His) SNV Benign 40585 rs192632236 3:12660102-12660102 3:12618603-12618603 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) SNV Benign 40536 rs201787206 12:112915526-112915526 12:112477722-112477722 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.3032A>G (p.Asn1011Ser) SNV Benign 40716 rs8192671 2:39224112-39224112 2:38996971-38996971 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.5(PTPN11):c.854-32A>C SNV Benign 40530 rs187389813 12:112915423-112915423 12:112477619-112477619 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.854-30T>C SNV Benign 40531 rs144391508 12:112915425-112915425 12:112477621-112477621 NNN008 Noonan Syndrome 1 PTPN11 NM_002834.4(PTPN11):c.854-21C>T SNV Benign 40532 rs41279090 12:112915434-112915434 12:112477630-112477630 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.*73T>C SNV Benign 41449 rs1137282 12:25362777-25362777 12:25209843-25209843 NNN008 Noonan Syndrome 1 MAP2K1 NM_002755.4(MAP2K1):c.1068+12_1068+15del short repeat Benign 44586 rs397516788 15:66782109-66782112 15:66489771-66489774 NNN008 Noonan Syndrome 1 MAP2K2 NM_030662.4(MAP2K2):c.844C>T (p.Pro282Ser) SNV Benign 40826 rs142307980 19:4099274-4099274 19:4099276-4099276 NNN008 Noonan Syndrome 1 MAP2K2 NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) SNV Benign 40843 rs144383241 19:4090637-4090637 19:4090639-4090639 NNN008 Noonan Syndrome 1 MAP2K1 NM_002755.4(MAP2K1):c.927A>T (p.Ala309=) SNV Benign 40758 rs146869577 15:66779597-66779597 15:66487259-66487259 NNN008 Noonan Syndrome 1 MAP2K1 NM_002755.4(MAP2K1):c.1023-8C>T SNV Benign 40760 rs41306345 15:66782048-66782048 15:66489710-66489710 NNN008 Noonan Syndrome 1 MAP2K1 NM_002755.4(MAP2K1):c.1137C>T (p.Ile379=) SNV Benign 40762 rs150841154 15:66782908-66782908 15:66490570-66490570 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.2122G>A (p.Ala708Thr) SNV Benign 40697 rs140811086 2:39240646-39240646 2:39013505-39013505 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.1230G>A (p.Gln410=) SNV Benign 40665 rs141390073 2:39250339-39250339 2:39023198-39023198 NNN008 Noonan Syndrome 1 SOS1 NM_005633.3(SOS1):c.195A>C (p.Arg65=) SNV Benign 40643 rs7609455 2:39294787-39294787 2:39067646-39067646 NNN008 Noonan Syndrome 1 SOS2 NM_006939.4(SOS2):c.3530C>T (p.Pro1177Leu) SNV not provided 585114 rs1566814839 14:50585531-50585531 14:50118813-50118813 NNN008 Noonan Syndrome 1 KRAS NM_033360.4(KRAS):c.347A>G (p.Asn116Ser) SNV not provided 156338 rs202247812 12:25378651-25378651 12:25225717-25225717 NNN008 Noonan Syndrome 1 LZTR1 NM_006767.4(LZTR1):c.2178C>A (p.Tyr726Ter) SNV Pathogenic 522799 rs1034395178 22:21350360-21350360 22:20996071-20996071 NNN009 Noonan Syndrome 2 LZTR1 NM_006767.4(LZTR1):c.-38T>A SNV Pathogenic 549752 rs1459786357 22:21336623-21336623 22:20982334-20982334 NNN009 Noonan Syndrome 2 LZTR1 NM_006767.4(LZTR1):c.1311G>A (p.Trp437Ter) SNV Pathogenic 549751 rs770933647 22:21348001-21348001 22:20993712-20993712 NNN009 Noonan Syndrome 2 LZTR1 NM_006767.4(LZTR1):c.2220-17C>A SNV Pathogenic 599029 rs1249726034 22:21350968-21350968 22:20996679-20996679 NNN009 Noonan Syndrome 2 LZTR1 NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter) SNV Pathogenic 599030 rs150419186 22:21343948-21343948 22:20989659-20989659 NNN009 Noonan Syndrome 2 LZTR1 NM_006767.4(LZTR1):c.2264G>A (p.Arg755Gln) SNV Pathogenic 599032 rs762834512 22:21351029-21351029 22:20996740-20996740 NNN009 Noonan Syndrome 2 LZTR1 NM_006767.4(LZTR1):c.361C>G (p.His121Asp) SNV Pathogenic 599033 rs1569154492 22:21341833-21341833 22:20987544-20987544 NNN009 Noonan Syndrome 2 LZTR1 NM_006767.4(LZTR1):c.1407G>A (p.Trp469Ter) SNV Pathogenic 549753 rs777243508 22:21348266-21348266 22:20993977-20993977 NNN009 Noonan Syndrome 2 LZTR1 NM_006767.4(LZTR1):c.510-2A>G SNV Likely pathogenic 692086 22:21343076-21343076 22:20988787-20988787 NNN009 Noonan Syndrome 2 LZTR1 NM_006767.4(LZTR1):c.1943-256C>T SNV Conflicting interpretations of pathogenicity 522800 rs761685529 22:21349779-21349779 22:20995490-20995490 NNN009 Noonan Syndrome 2 LZTR1 NM_006767.4(LZTR1):c.2246A>G (p.Tyr749Cys) SNV Uncertain significance 549754 rs755260815 22:21351011-21351011 22:20996722-20996722 NNN009 Noonan Syndrome 2 LZTR1 NM_006767.4(LZTR1):c.2245T>C (p.Tyr749His) SNV Uncertain significance 634900 22:21351010-21351010 22:20996721-20996721 NNN009 Noonan Syndrome 2 LZTR1 NM_006767.4(LZTR1):c.2462T>C (p.Ile821Thr) SNV Uncertain significance 635756 22:21351576-21351576 22:20997287-20997287 NNN009 Noonan Syndrome 2 LZTR1 NM_006767.4(LZTR1):c.1385T>C (p.Ile462Thr) SNV Uncertain significance 549756 rs147684991 22:21348244-21348244 22:20993955-20993955 NNN009 Noonan Syndrome 2 LZTR1 NM_006767.4(LZTR1):c.1382C>A (p.Ala461Asp) SNV Uncertain significance 549755 rs1569156890 22:21348241-21348241 22:20993952-20993952 NNN009 Noonan Syndrome 2 ND1 NC_012920.1:m.3670G>A SNV Uncertain significance 692386 MT:3670-3670 MT:3670-3670 OCL011 Ocular Motility Disease ND6 NC_012920.1:m.14248dupC duplication Pathogenic 224776 rs869312882 MT:14243-14244 MT:14243-14244 ONC007 Oncocytoma DNM1L NM_012062.5(DNM1L):c.5A>C (p.Glu2Ala) SNV Pathogenic 446169 rs1555229948 12:32832302-32832302 12:32679368-32679368 OPT024 Optic Atrophy 5 DNM1L NM_012062.5(DNM1L):c.575C>A (p.Ala192Glu) SNV Pathogenic 446170 rs1555119216 12:32866261-32866261 12:32713327-32713327 OPT024 Optic Atrophy 5 DNM1L NM_012062.5(DNM1L):c.763_764dup (p.Lys256fs) duplication Pathogenic 689730 12:32873619-32873620 12:32720685-32720686 OPT024 Optic Atrophy 5 DNM1L NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys) SNV Pathogenic 214313 rs863223953 12:32884296-32884296 12:32731362-32731362 OPT024 Optic Atrophy 5 DNM1L NM_012062.5(DNM1L):c.2072A>G (p.Tyr691Cys) SNV Pathogenic/Likely pathogenic 619028 rs1565548029 12:32895600-32895600 12:32742666-32742666 OPT024 Optic Atrophy 5 DNM1L NM_012062.5(DNM1L):c.305C>T (p.Thr102Met) SNV Uncertain significance 214308 rs201929226 12:32861094-32861094 12:32708160-32708160 OPT024 Optic Atrophy 5 TMEM126A NM_032273.4(TMEM126A):c.163C>T (p.Arg55Ter) SNV Pathogenic 410 rs121434508 11:85365183-85365183 11:85654139-85654139 OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy TMEM126A NM_032273.4(TMEM126A):c.96T>G (p.Leu32=) SNV Conflicting interpretations of pathogenicity 137669 rs36100288 11:85365116-85365116 11:85654072-85654072 OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy TMEM126A NM_032273.4(TMEM126A):c.314G>A (p.Arg105Gln) SNV Conflicting interpretations of pathogenicity 197361 rs146573578 11:85366671-85366671 11:85655627-85655627 OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy TMEM126A NM_032273.4(TMEM126A):c.385C>G (p.Leu129Val) SNV Uncertain significance 167733 rs546358774 11:85366742-85366742 11:85655698-85655698 OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy TMEM126A NM_032273.4(TMEM126A):c.-16G>C SNV Uncertain significance 306322 rs548326357 11:85359125-85359125 11:85648081-85648081 OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy TMEM126A NM_032273.4(TMEM126A):c.-98C>G SNV Uncertain significance 883047 11:85359043-85359043 11:85647999-85647999 OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy TMEM126A NM_032273.4(TMEM126A):c.20A>G (p.Asn7Ser) SNV Uncertain significance 883048 11:85361319-85361319 11:85650275-85650275 OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy TMEM126A NM_032273.4(TMEM126A):c.368T>C (p.Ile123Thr) SNV Uncertain significance 883827 11:85366725-85366725 11:85655681-85655681 OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy TMEM126A NM_032273.4(TMEM126A):c.563C>A (p.Ser188Tyr) SNV Uncertain significance 880529 11:85367520-85367520 11:85656476-85656476 OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy TMEM126A NM_032273.4(TMEM126A):c.487A>G (p.Ile163Val) SNV Uncertain significance 306323 rs886048713 11:85367444-85367444 11:85656400-85656400 OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy TMEM126A NM_032273.4(TMEM126A):c.502A>G (p.Met168Val) SNV Uncertain significance 306324 rs886048714 11:85367459-85367459 11:85656415-85656415 OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy TMEM126A NM_032273.4(TMEM126A):c.87G>C (p.Arg29Ser) SNV Uncertain significance 196566 rs142717432 11:85365107-85365107 11:85654063-85654063 OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy TMEM126A NM_032273.4(TMEM126A):c.191G>A (p.Arg64His) SNV Benign/Likely benign 137670 rs11556797 11:85365211-85365211 11:85654167-85654167 OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy TMEM126A NM_032273.4(TMEM126A):c.562T>A (p.Ser188Thr) SNV Benign/Likely benign 137671 rs34397695 11:85367519-85367519 11:85656475-85656475 OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy TMEM126A NM_032273.4(TMEM126A):c.154A>G (p.Ser52Gly) SNV Benign/Likely benign 196565 rs140047528 11:85365174-85365174 11:85654130-85654130 OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy TMEM126A NM_032273.4(TMEM126A):c.280+14C>T SNV Benign/Likely benign 215270 rs117453673 11:85365314-85365314 11:85654270-85654270 OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy TMEM126A NM_032273.4(TMEM126A):c.395+5G>A SNV Benign/Likely benign 215271 rs115906592 11:85366757-85366757 11:85655713-85655713 OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy TMEM126A NM_032273.4(TMEM126A):c.395+10A>G SNV Benign 262022 rs2196168 11:85366762-85366762 11:85655718-85655718 OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy TMEM126A NM_032273.4(TMEM126A):c.-69T>A SNV Benign 306320 rs17148285 11:85359072-85359072 11:85648028-85648028 OPT074 Optic Atrophy 7 with or Without Auditory Neuropathy KARS1 NM_001130089.1(KARS1):c.871T>G (p.Phe291Val) SNV Pathogenic 562001 rs772410450 16:75669586-75669586 16:75635688-75635688 OPT006 Optic Nerve Disease TYR NM_000372.5(TYR):c.265T>C (p.Cys89Arg) SNV Pathogenic 3781 rs28940877 11:88911386-88911386 11:89178218-89178218 OPT006 Optic Nerve Disease ND1 m.3700G>A SNV Pathogenic 65519 rs397515508 MT:3700-3700 MT:3700-3700 OPT006 Optic Nerve Disease FOXG1 NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter) SNV Pathogenic 453289 rs267606826 14:29237109-29237109 14:28767903-28767903 OPT006 Optic Nerve Disease TYR NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys) SNV Likely pathogenic 523363 rs376823382 11:89018108-89018108 11:89284940-89284940 OPT006 Optic Nerve Disease KARS1 NM_005548.2(KARS1):c.599C>T (p.Pro200Leu) SNV Likely pathogenic 224983 rs201650281 16:75669880-75669880 16:75635982-75635982 OPT006 Optic Nerve Disease ATP8 NC_012920.1:m.8418T>C SNV Likely pathogenic 370050 rs1057516062 MT:8418-8418 MT:8418-8418 OPT006 Optic Nerve Disease ATP6 NC_012920.1:m.9166T>C SNV Uncertain significance 370051 rs1057516063 MT:9166-9166 MT:9166-9166 OPT006 Optic Nerve Disease ND4 NC_012920.1:m.11443A>C SNV Uncertain significance 523305 rs1556423952 MT:11443-11443 MT:11443-11443 OPT006 Optic Nerve Disease GLI2 NM_001374353.1(GLI2):c.254G>C (p.Gly85Ala) SNV Likely benign 373963 rs1057518803 2:121685042-121685042 2:120927466-120927466 OPT006 Optic Nerve Disease CHD2 NM_001271.4(CHD2):c.949A>G (p.Ile317Val) SNV Likely benign 373964 rs750380444 15:93486195-93486195 15:92942965-92942965 OPT006 Optic Nerve Disease COL4A1 NM_001845.6(COL4A1):c.2842G>A (p.Gly948Ser) SNV Pathogenic 496641 rs1555303073 13:110829259-110829259 13:110176912-110176912 OPT070 Optic Nerve Hypoplasia, Bilateral SOX5 deletion Pathogenic 496727 12:23432684-23773692 12:23279750-23620758 OPT070 Optic Nerve Hypoplasia, Bilateral PAX6 NM_000280.4(PAX6):c.613C>T (p.Gln205Ter) SNV Pathogenic 3476 rs121907924 11:31816247-31816247 11:31794699-31794699 OPT070 Optic Nerve Hypoplasia, Bilateral PAX6 NM_001368911.1(PAX6):c.1078-703A>G SNV Pathogenic 3478 rs121907926 11:31812270-31812270 11:31790722-31790722 OPT070 Optic Nerve Hypoplasia, Bilateral ATOH7 NM_145178.4(ATOH7):c.176C>T (p.Ala59Val) SNV Pathogenic 812673 10:69991259-69991259 10:68231502-68231502 OPT070 Optic Nerve Hypoplasia, Bilateral ATOH7 NM_145178.4(ATOH7):c.175G>A (p.Ala59Thr) SNV Pathogenic 812672 10:69991260-69991260 10:68231503-68231503 OPT070 Optic Nerve Hypoplasia, Bilateral PAX6 NM_000280.4(PAX6):c.781C>T (p.Arg261Ter) SNV Pathogenic 279862 rs886041222 11:31815335-31815335 11:31793787-31793787 OPT070 Optic Nerve Hypoplasia, Bilateral HERC2 NM_004667.5(HERC2):c.6976del (p.Ile2325_Leu2326insTer) deletion Pathogenic 374155 rs1057518934 15:28456241-28456241 15:28211095-28211095 OPT070 Optic Nerve Hypoplasia, Bilateral PAX6 NM_019040.5(ELP4):c.*6411T>A SNV Pathogenic/Likely pathogenic 3474 rs121907922 11:31811483-31811483 11:31789935-31789935 OPT070 Optic Nerve Hypoplasia, Bilateral PAX6 NM_000280.4:c.1267A>T SNV Likely pathogenic 522379 OPT070 Optic Nerve Hypoplasia, Bilateral CYP26C1 NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs) duplication Conflicting interpretations of pathogenicity 496732 rs565866662 10:94824276-94824277 10:93064519-93064520 OPT070 Optic Nerve Hypoplasia, Bilateral SPG7 NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) SNV Conflicting interpretations of pathogenicity 42016 rs61755320 16:89613145-89613145 16:89546737-89546737 OPT070 Optic Nerve Hypoplasia, Bilateral OPA1 NM_015560.2(OPA1):c.1146A>G (p.Ile382Met) SNV Conflicting interpretations of pathogenicity 50866 rs143319805 3:193361167-193361167 3:193643378-193643378 OPT070 Optic Nerve Hypoplasia, Bilateral COL4A1 NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) SNV Conflicting interpretations of pathogenicity 196327 rs34004222 13:110866346-110866346 13:110213999-110213999 OPT070 Optic Nerve Hypoplasia, Bilateral COL4A2 NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser) SNV Conflicting interpretations of pathogenicity 311195 rs12877501 13:111164386-111164386 13:110512039-110512039 OPT070 Optic Nerve Hypoplasia, Bilateral COL4A2 NM_001846.4(COL4A2):c.1948C>T (p.Pro650Ser) SNV Conflicting interpretations of pathogenicity 311138 rs200735885 13:111117923-111117923 13:110465576-110465576 OPT070 Optic Nerve Hypoplasia, Bilateral COL4A1 NM_001845.6(COL4A1):c.1450C>A (p.Pro484Thr) SNV Uncertain significance 496637 rs762408881 13:110845192-110845192 13:110192845-110192845 OPT070 Optic Nerve Hypoplasia, Bilateral COL4A2 NM_001846.4(COL4A2):c.2185G>A (p.Gly729Arg) SNV Uncertain significance 496734 rs201058867 13:111121653-111121653 13:110469306-110469306 OPT070 Optic Nerve Hypoplasia, Bilateral CYP26A1 NM_057157.2:c.1184T>C SNV Uncertain significance 522175 OPT070 Optic Nerve Hypoplasia, Bilateral CYP26C1 NM_183374.3(CYP26C1):c.356A>C (p.Gln119Pro) SNV Likely benign 496733 rs201284617 10:94821918-94821918 10:93062161-93062161 OPT070 Optic Nerve Hypoplasia, Bilateral UBE3B NM_130466.4(UBE3B):c.2962G>A (p.Ala988Thr) SNV Likely benign 496688 rs753221661 12:109971310-109971310 12:109533505-109533505 OPT070 Optic Nerve Hypoplasia, Bilateral ND4 NC_012920.1:m.11443A>C SNV Uncertain significance 523305 rs1556423952 MT:11443-11443 MT:11443-11443 OPT009 Optic Neuritis COX3 NC_012920.1:m.9355A>T SNV Uncertain significance 523307 rs1556423663 MT:9355-9355 MT:9355-9355 ORM002 Oromandibular Dystonia GNAS NM_001077488.4(GNAS):c.728del (p.Thr243fs) deletion Pathogenic 15929 20:57484745-57484745 20:58909690-58909690 OSS012 Osseous Heteroplasia, Progressive未查到 GNAS NM_001077488.4(GNAS):c.568_571del (p.Asp190fs) deletion Pathogenic 15938 rs587776829 20:57484249-57484252 20:58909194-58909197 OSS012 Osseous Heteroplasia, Progressive未查到 GNAS GNAS, 1-BP DEL, 348C deletion Pathogenic 15949 OSS012 Osseous Heteroplasia, Progressive未查到 GNAS GNAS, 2-BP DEL, 860TG deletion Pathogenic 15952 OSS012 Osseous Heteroplasia, Progressive未查到 BRCA2 NM_000059.3(BRCA2):c.4936_4939del (p.Glu1646fs) deletion Pathogenic 37935 rs80359473 13:32913425-32913428 13:32339288-32339291 OSS012 Osseous Heteroplasia, Progressive未查到 GNAS NM_001077488.4(GNAS):c.85C>T (p.Gln29Ter) SNV Pathogenic 374113 rs1057518907 20:57466866-57466866 20:58891811-58891811 OSS012 Osseous Heteroplasia, Progressive未查到 GNAS NM_001077488.4(GNAS):c.1A>G (p.Met1Val) SNV Pathogenic/Likely pathogenic 15927 rs137854530 20:57466782-57466782 20:58891727-58891727 OSS012 Osseous Heteroplasia, Progressive未查到 FAM111B NM_198947.4(FAM111B):c.1462del (p.Cys488fs) deletion Likely pathogenic 599012 rs1565191262 11:58893032-58893032 11:59125559-59125559 OSS012 Osseous Heteroplasia, Progressive未查到 GNAS NM_080425.3(GNAS):c.1200C>A (p.Ala400=) SNV Uncertain significance 417934 rs908810796 20:57429520-57429520 20:58854465-58854465 OSS012 Osseous Heteroplasia, Progressive未查到 GNAS NM_080425.3(GNAS):c.1455C>A (p.Ala485=) SNV Benign 417936 rs55890501 20:57429775-57429775 20:58854720-58854720 OSS012 Osseous Heteroplasia, Progressive未查到 FKRP NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) SNV Pathogenic 4221 rs28937900 19:47259533-47259533 19:46756276-46756276 PRS063 Paresthesia CAPN3 NM_000070.3(CAPN3):c.550del (p.Thr184fs) deletion Pathogenic 17621 rs80338800 15:42680001-42680001 15:42387803-42387803 PRS063 Paresthesia CAPN3 NM_000070.3(CAPN3):c.1746-20C>G SNV Conflicting interpretations of pathogenicity 92408 rs201892814 15:42695919-42695919 15:42403721-42403721 PRS063 Paresthesia ND6 NC_012920.1:m.14477A>G SNV Uncertain significance 523306 rs1556424448 MT:14477-14477 MT:14477-14477 PRS063 Paresthesia SNCA SNCA, TRIPLICATION copy number gain Pathogenic 14009 PRK091 Parkinson Disease 4, Autosomal Dominant PINK1 NM_032409.3(PINK1):c.1474C>T (p.Arg492Ter) SNV Pathogenic 431963 rs34208370 1:20975710-20975710 1:20649217-20649217 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.599del (p.Ala200fs) deletion Pathogenic 581272 rs1557561340 1:20964546-20964546 1:20638053-20638053 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.774C>A (p.Tyr258Ter) SNV Pathogenic 631591 rs756783990 1:20966483-20966483 1:20639990-20639990 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.13C>T (p.Gln5Ter) SNV Pathogenic 661098 1:20960054-20960054 1:20633561-20633561 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.273del (p.Cys92fs) deletion Pathogenic 664114 1:20960314-20960314 1:20633821-20633821 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.926G>A (p.Gly309Asp) SNV Pathogenic 2404 rs74315355 1:20971132-20971132 1:20644639-20644639 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.813C>A (p.His271Gln) SNV Pathogenic 2405 rs28940284 1:20971019-20971019 1:20644526-20644526 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.1311G>A (p.Trp437Ter) SNV Pathogenic 2406 rs74315356 1:20975547-20975547 1:20649054-20649054 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.736C>T (p.Arg246Ter) SNV Pathogenic 2407 rs74315357 1:20966445-20966445 1:20639952-20639952 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.1040T>C (p.Leu347Pro) SNV Pathogenic 2408 rs28940285 1:20972133-20972133 1:20645640-20645640 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.1570_1573dup (p.Asp525fs) duplication Pathogenic 2409 rs730880302 1:20977005-20977006 1:20650512-20650513 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.1597_1599CAA[3] (p.Gln534dup) short repeat Pathogenic 2410 rs750664040 1:20977034-20977035 1:20650541-20650542 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.836G>A (p.Arg279His) SNV Pathogenic 2411 rs74315358 1:20971042-20971042 1:20644549-20644549 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_005216.4(DDOST):c.*807_*5409del deletion Pathogenic 2412 1:20973463-20978065 1:20646970-20651572 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.938C>T (p.Thr313Met) SNV Pathogenic 2413 rs74315359 1:20971144-20971144 1:20644651-20644651 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.650C>A (p.Ala217Asp) SNV Pathogenic 2414 rs74315360 1:20964597-20964597 1:20638104-20638104 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.1366C>T (p.Gln456Ter) SNV Pathogenic 2415 rs45539432 1:20975602-20975602 1:20649109-20649109 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PARK7 NM_007262.5(PARK7):c.115G>T (p.Ala39Ser) SNV Pathogenic 7069 rs137853051 1:8025408-8025408 1:7965348-7965348 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.620del (p.Arg207fs) deletion Pathogenic 189240 rs756677845 1:20964567-20964567 1:20638074-20638074 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.1291T>C (p.Tyr431His) SNV risk factor 2416 rs74315361 1:20975527-20975527 1:20649034-20649034 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.827G>A (p.Arg276Gln) SNV Conflicting interpretations of pathogenicity 787365 1:20971033-20971033 1:20644540-20644540 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.267C>T (p.Ala89=) SNV Conflicting interpretations of pathogenicity 707527 1:20960308-20960308 1:20633815-20633815 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.1231G>A (p.Gly411Ser) SNV Conflicting interpretations of pathogenicity 703421 1:20975105-20975105 1:20648612-20648612 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.1481C>T (p.Ala494Val) SNV Conflicting interpretations of pathogenicity 706953 1:20975717-20975717 1:20649224-20649224 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.1147G>A (p.Ala383Thr) SNV Conflicting interpretations of pathogenicity 618283 rs45515602 1:20975021-20975021 1:20648528-20648528 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.1015G>A (p.Ala339Thr) SNV Conflicting interpretations of pathogenicity 500148 rs55831733 1:20972108-20972108 1:20645615-20645615 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.67G>A (p.Gly23Ser) SNV Conflicting interpretations of pathogenicity 447940 rs551542832 1:20960108-20960108 1:20633615-20633615 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.434C>T (p.Thr145Met) SNV Conflicting interpretations of pathogenicity 286781 rs45604240 1:20964381-20964381 1:20637888-20637888 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.1251+10G>A SNV Conflicting interpretations of pathogenicity 288962 rs192131551 1:20975135-20975135 1:20648642-20648642 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.858G>A (p.Pro286=) SNV Conflicting interpretations of pathogenicity 289332 rs148144773 1:20971064-20971064 1:20644571-20644571 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.88G>C (p.Gly30Arg) SNV Conflicting interpretations of pathogenicity 294997 rs569753606 1:20960129-20960129 1:20633636-20633636 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.165G>A (p.Glu55=) SNV Conflicting interpretations of pathogenicity 294998 rs537679886 1:20960206-20960206 1:20633713-20633713 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.936G>A (p.Arg312=) SNV Conflicting interpretations of pathogenicity 295002 rs56200357 1:20971142-20971142 1:20644649-20644649 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.1698G>A (p.Thr566=) SNV Conflicting interpretations of pathogenicity 295008 rs777232150 1:20977136-20977136 1:20650643-20650643 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.*532G>A SNV Conflicting interpretations of pathogenicity 295022 rs190393061 1:20977716-20977716 1:20651223-20651223 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.*534A>G SNV Uncertain significance 295023 rs553977557 1:20977718-20977718 1:20651225-20651225 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.695C>T (p.Ala232Val) SNV Uncertain significance 295000 rs144071530 1:20966404-20966404 1:20639911-20639911 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.960-11C>T SNV Uncertain significance 295003 rs371943401 1:20972042-20972042 1:20645549-20645549 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.1251+5G>A SNV Uncertain significance 295005 rs756873744 1:20975130-20975130 1:20648637-20648637 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.1719C>G (p.Leu573=) SNV Uncertain significance 295009 rs201936304 1:20977157-20977157 1:20650664-20650664 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.1578G>C (p.Lys526Asn) SNV Uncertain significance 295007 rs886045848 1:20977016-20977016 1:20650523-20650523 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.*121G>A SNV Uncertain significance 295012 rs570308715 1:20977305-20977305 1:20650812-20650812 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.770C>T (p.Thr257Ile) SNV Uncertain significance 374599 rs370906995 1:20966479-20966479 1:20639986-20639986 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.802C>G (p.Leu268Val) SNV Uncertain significance 374600 rs372280083 1:20971008-20971008 1:20644515-20644515 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.*18G>A SNV Uncertain significance 295010 rs369117599 1:20977202-20977202 1:20650709-20650709 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.*510G>A SNV Uncertain significance 295020 rs886045850 1:20977694-20977694 1:20651201-20651201 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.*613A>G SNV Uncertain significance 295027 rs886045852 1:20977797-20977797 1:20651304-20651304 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.*655T>C SNV Uncertain significance 295028 rs141140099 1:20977839-20977839 1:20651346-20651346 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.*807T>C SNV Uncertain significance 295032 rs78349864 1:20977991-20977991 1:20651498-20651498 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.826C>T (p.Arg276Trp) SNV Uncertain significance 295001 rs778009684 1:20971032-20971032 1:20644539-20644539 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.952A>T (p.Met318Leu) SNV Uncertain significance 447942 rs139226733 1:20971158-20971158 1:20644665-20644665 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.935G>A (p.Arg312Gln) SNV Uncertain significance 465847 rs202128685 1:20971141-20971141 1:20644648-20644648 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.587C>T (p.Pro196Leu) SNV Uncertain significance 445908 rs138302371 1:20964534-20964534 1:20638041-20638041 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.322del (p.Leu108fs) deletion Uncertain significance 631589 rs1557559393 1:20960363-20960363 1:20633870-20633870 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.665G>A (p.Trp222Ter) SNV Uncertain significance 631590 rs777160388 1:20964612-20964612 1:20638119-20638119 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.1212C>G (p.Tyr404Ter) SNV Uncertain significance 631592 rs747239996 1:20975086-20975086 1:20648593-20648593 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.565G>A (p.Gly189Arg) SNV Uncertain significance 493026 rs757581951 1:20964512-20964512 1:20638019-20638019 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.1488G>A (p.Lys496=) SNV Uncertain significance 534247 rs56217826 1:20975724-20975724 1:20649231-20649231 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.745T>G (p.Leu249Val) SNV Uncertain significance 806077 1:20966454-20966454 1:20639961-20639961 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.449G>A (p.Gly150Asp) SNV Uncertain significance 846127 1:20964396-20964396 1:20637903-20637903 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.1065A>G (p.Gln355=) SNV Uncertain significance 859181 1:20972158-20972158 1:20645665-20645665 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.218C>T (p.Ser73Leu) SNV Uncertain significance 874873 1:20960259-20960259 1:20633766-20633766 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.279G>C (p.Ala93=) SNV Uncertain significance 875806 1:20960320-20960320 1:20633827-20633827 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.414G>A (p.Pro138=) SNV Uncertain significance 875808 1:20964361-20964361 1:20637868-20637868 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.620G>A (p.Arg207Gln) SNV Uncertain significance 876798 1:20964567-20964567 1:20638074-20638074 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.813C>T (p.His271=) SNV Uncertain significance 876799 1:20971019-20971019 1:20644526-20644526 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.835C>T (p.Arg279Cys) SNV Uncertain significance 873989 1:20971041-20971041 1:20644548-20644548 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.887C>T (p.Pro296Leu) SNV Uncertain significance 873990 1:20971093-20971093 1:20644600-20644600 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.1003A>G (p.Ser335Gly) SNV Uncertain significance 874926 1:20972096-20972096 1:20645603-20645603 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.1075G>A (p.Ala359Thr) SNV Uncertain significance 874927 1:20972168-20972168 1:20645675-20645675 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.1095C>T (p.Ser365=) SNV Uncertain significance 874928 1:20972188-20972188 1:20645695-20645695 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.1194G>A (p.Leu398=) SNV Uncertain significance 875861 1:20975068-20975068 1:20648575-20648575 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.1728A>G (p.Ser576=) SNV Uncertain significance 876858 1:20977166-20977166 1:20650673-20650673 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.1729T>C (p.Trp577Arg) SNV Uncertain significance 876859 1:20977167-20977167 1:20650674-20650674 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.626C>T (p.Pro209Leu) SNV Uncertain significance 647795 1:20964573-20964573 1:20638080-20638080 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.962A>G (p.Tyr321Cys) SNV Uncertain significance 652873 1:20972055-20972055 1:20645562-20645562 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.1096G>A (p.Asp366Asn) SNV Uncertain significance 662914 1:20972189-20972189 1:20645696-20645696 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.*64G>A SNV Uncertain significance 874057 1:20977248-20977248 1:20650755-20650755 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.*113G>A SNV Uncertain significance 874058 1:20977297-20977297 1:20650804-20650804 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.*263C>A SNV Uncertain significance 874984 1:20977447-20977447 1:20650954-20650954 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.*340C>T SNV Uncertain significance 874985 1:20977524-20977524 1:20651031-20651031 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.*352G>A SNV Uncertain significance 874986 1:20977536-20977536 1:20651043-20651043 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.*519G>A SNV Uncertain significance 875911 1:20977703-20977703 1:20651210-20651210 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.*542G>A SNV Uncertain significance 875912 1:20977726-20977726 1:20651233-20651233 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.*571C>T SNV Uncertain significance 875913 1:20977755-20977755 1:20651262-20651262 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.*579C>T SNV Uncertain significance 876905 1:20977763-20977763 1:20651270-20651270 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.*586T>C SNV Uncertain significance 876906 1:20977770-20977770 1:20651277-20651277 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.*702G>A SNV Uncertain significance 876907 1:20977886-20977886 1:20651393-20651393 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.*817C>A SNV Uncertain significance 876908 1:20978001-20978001 1:20651508-20651508 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.960-11C>G SNV Uncertain significance 873991 1:20972042-20972042 1:20645549-20645549 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.1196C>T (p.Pro399Leu) SNV Uncertain significance 2417 rs119451946 1:20975070-20975070 1:20648577-20648577 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.1077G>A (p.Ala359=) SNV Likely benign 704989 1:20972170-20972170 1:20645677-20645677 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.537C>T (p.Pro179=) SNV Likely benign 719562 1:20964484-20964484 1:20637991-20637991 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.852C>T (p.Ser284=) SNV Likely benign 712196 1:20971058-20971058 1:20644565-20644565 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.387+14G>A SNV Likely benign 875807 1:20960442-20960442 1:20633949-20633949 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.*40G>A SNV Likely benign 874056 1:20977224-20977224 1:20650731-20650731 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.*349G>C SNV Likely benign 295016 rs114112086 1:20977533-20977533 1:20651040-20651040 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset DDOST NM_032409.3(PINK1):c.*415C>G SNV Benign/Likely benign 295018 rs8064 1:20977599-20977599 1:20651106-20651106 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.*415C>G SNV Benign/Likely benign 295018 rs8064 1:20977599-20977599 1:20651106-20651106 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1-AS NM_032409.3(PINK1):c.*415C>G SNV Benign/Likely benign 295018 rs8064 1:20977599-20977599 1:20651106-20651106 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset DDOST NM_032409.3(PINK1):c.*490A>C SNV Benign/Likely benign 295019 rs16824318 1:20977674-20977674 1:20651181-20651181 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.*490A>C SNV Benign/Likely benign 295019 rs16824318 1:20977674-20977674 1:20651181-20651181 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1-AS NM_032409.3(PINK1):c.*490A>C SNV Benign/Likely benign 295019 rs16824318 1:20977674-20977674 1:20651181-20651181 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset DDOST NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr) SNV Benign/Likely benign 295006 rs1043424 1:20977000-20977000 1:20650507-20650507 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr) SNV Benign/Likely benign 295006 rs1043424 1:20977000-20977000 1:20650507-20650507 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1-AS NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr) SNV Benign/Likely benign 295006 rs1043424 1:20977000-20977000 1:20650507-20650507 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset DDOST NM_032409.3(PINK1):c.*196T>C SNV Benign/Likely benign 295014 rs1043443 1:20977380-20977380 1:20650887-20650887 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.*196T>C SNV Benign/Likely benign 295014 rs1043443 1:20977380-20977380 1:20650887-20650887 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1-AS NM_032409.3(PINK1):c.*196T>C SNV Benign/Likely benign 295014 rs1043443 1:20977380-20977380 1:20650887-20650887 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset DDOST NM_032409.3(PINK1):c.*265G>T SNV Benign/Likely benign 295015 rs512550 1:20977449-20977449 1:20650956-20650956 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.*265G>T SNV Benign/Likely benign 295015 rs512550 1:20977449-20977449 1:20650956-20650956 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1-AS NM_032409.3(PINK1):c.*265G>T SNV Benign/Likely benign 295015 rs512550 1:20977449-20977449 1:20650956-20650956 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset DDOST NM_032409.3(PINK1):c.*564T>G SNV Benign/Likely benign 295024 rs1043502 1:20977748-20977748 1:20651255-20651255 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.*564T>G SNV Benign/Likely benign 295024 rs1043502 1:20977748-20977748 1:20651255-20651255 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1-AS NM_032409.3(PINK1):c.*564T>G SNV Benign/Likely benign 295024 rs1043502 1:20977748-20977748 1:20651255-20651255 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset DDOST NM_032409.3(PINK1):c.*672T>C SNV Benign/Likely benign 295030 rs2078073 1:20977856-20977856 1:20651363-20651363 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.*672T>C SNV Benign/Likely benign 295030 rs2078073 1:20977856-20977856 1:20651363-20651363 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1-AS NM_032409.3(PINK1):c.*672T>C SNV Benign/Likely benign 295030 rs2078073 1:20977856-20977856 1:20651363-20651363 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.1173T>C (p.Asp391=) SNV Benign/Likely benign 534248 rs45499398 1:20975047-20975047 1:20648554-20648554 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.804A>G (p.Leu268=) SNV Benign 465846 rs200708848 1:20971010-20971010 1:20644517-20644517 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.1502G>A (p.Arg501Gln) SNV Benign 703805 1:20976940-20976940 1:20650447-20650447 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.948C>T (p.Leu316=) SNV Benign 703838 1:20971154-20971154 1:20644661-20644661 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset ND6 m.14319T>C SNV Benign 9695 rs199476110 MT:14319-14319 MT:14319-14319 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset ND5 m.12397A>G SNV Benign 9705 rs1556424100 MT:12397-12397 MT:12397-12397 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.344A>T (p.Gln115Leu) SNV Benign 294999 rs148871409 1:20960385-20960385 1:20633892-20633892 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.189C>T (p.Leu63=) SNV Benign 262026 rs45530340 1:20960230-20960230 1:20633737-20633737 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.388-7A>G SNV Benign 262027 rs2298298 1:20964328-20964328 1:20637835-20637835 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.960-5G>A SNV Benign 262028 rs3131713 1:20972048-20972048 1:20645555-20645555 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.1426G>A (p.Glu476Lys) SNV Benign 286390 rs115477764 1:20975662-20975662 1:20649169-20649169 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.1018G>A (p.Ala340Thr) SNV Benign 295004 rs3738136 1:20972111-20972111 1:20645618-20645618 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset DDOST NM_032409.3(PINK1):c.*37A>T SNV Benign 295011 rs686658 1:20977221-20977221 1:20650728-20650728 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.*37A>T SNV Benign 295011 rs686658 1:20977221-20977221 1:20650728-20650728 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1-AS NM_032409.3(PINK1):c.*37A>T SNV Benign 295011 rs686658 1:20977221-20977221 1:20650728-20650728 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset DDOST NM_032409.3(PINK1):c.*181C>G SNV Benign 295013 rs513414 1:20977365-20977365 1:20650872-20650872 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.*181C>G SNV Benign 295013 rs513414 1:20977365-20977365 1:20650872-20650872 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1-AS NM_032409.3(PINK1):c.*181C>G SNV Benign 295013 rs513414 1:20977365-20977365 1:20650872-20650872 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset PINK1 NM_032409.3(PINK1):c.799C>T (p.Gln267Ter) SNV not provided 183259 rs730882053 1:20971005-20971005 1:20644512-20644512 PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset TBP TBP, (CAG)n REPEAT EXPANSION NT expansion Pathogenic,risk factor 562072 PRK057 Parkinson Disease, Late-Onset ATXN8 ATXN8, (CAG)n REPEAT EXPANSION NT expansion Pathogenic,risk factor 562101 PRK057 Parkinson Disease, Late-Onset ATXN8OS ATXN8, (CAG)n REPEAT EXPANSION NT expansion Pathogenic,risk factor 562101 PRK057 Parkinson Disease, Late-Onset GBA NM_000157.4(GBA):c.1294T>A (p.Trp432Arg) SNV Pathogenic 599275 rs1557901552 1:155205566-155205566 1:155235775-155235775 PRK057 Parkinson Disease, Late-Onset LOC106627981 NM_000157.4(GBA):c.1294T>A (p.Trp432Arg) SNV Pathogenic 599275 rs1557901552 1:155205566-155205566 1:155235775-155235775 PRK057 Parkinson Disease, Late-Onset GBA NM_000157.4(GBA):c.762-1G>C SNV Pathogenic 633240 rs1237637353 1:155207370-155207370 1:155237579-155237579 PRK057 Parkinson Disease, Late-Onset GBA GRCh37/hg19 1q22(chr1:155188179-155209868) copy number loss Pathogenic 813310 1:155188179-155209868 PRK057 Parkinson Disease, Late-Onset ATXN3 NM_004993.5(ATXN3):c.892_894CAG(8_36) (p.Gln298_Gln305=) NT expansion Pathogenic,risk factor 3551 rs193922928 14:92537355-92537357 14:92071011-92071013 PRK057 Parkinson Disease, Late-Onset GBA NM_000157.4(GBA):c.1448T>C (p.Leu483Pro) SNV Pathogenic,risk factor 4288 rs421016 1:155205043-155205043 1:155235252-155235252 PRK057 Parkinson Disease, Late-Onset GBA NM_000157.4(GBA):c.1504C>T (p.Arg502Cys) SNV Pathogenic 4295 rs80356771 1:155204987-155204987 1:155235196-155235196 PRK057 Parkinson Disease, Late-Onset GBA NM_000157.4(GBA):c.1604G>A (p.Arg535His) SNV Pathogenic 4311 rs75822236 1:155204793-155204793 1:155235002-155235002 PRK057 Parkinson Disease, Late-Onset GBA NM_000157.4(GBA):c.887G>A (p.Arg296Gln) SNV Pathogenic 4328 rs78973108 1:155207244-155207244 1:155237453-155237453 PRK057 Parkinson Disease, Late-Onset MAPT NM_016835.4(MAPT):c.1853C>T (p.Pro618Leu) SNV Pathogenic 14245 rs63751273 17:44087755-44087755 17:46010389-46010389 PRK057 Parkinson Disease, Late-Onset MAPT NM_016835.4(MAPT):c.2167C>T (p.Arg723Trp) SNV Pathogenic 14247 rs63750424 17:44101427-44101427 17:46024061-46024061 PRK057 Parkinson Disease, Late-Onset MAPT NM_016835.4(MAPT):c.1788T>G (p.Asn596Lys) SNV Pathogenic 14253 rs63750756 17:44087690-44087690 17:46010324-46010324 PRK057 Parkinson Disease, Late-Onset GLUD2 NM_012084.4(GLUD2):c.1492T>G (p.Ser498Ala) SNV Pathogenic 29936 rs9697983 X:120183030-120183030 X:121049176-121049176 PRK057 Parkinson Disease, Late-Onset ATXN2 NP_002964.3:p.Gln166(>=33) NT expansion Pathogenic,risk factor 65668 PRK057 Parkinson Disease, Late-Onset MAPT NM_016835.4(MAPT):c.1835_1837ATA[1] (p.Asn613del) short repeat Pathogenic,risk factor 98243 rs63751392 17:44087737-44087739 17:46010371-46010373 PRK057 Parkinson Disease, Late-Onset GBA NM_000157.4(GBA):c.115+1G>A SNV Pathogenic 93445 rs104886460 1:155210420-155210420 1:155240629-155240629 PRK057 Parkinson Disease, Late-Onset VPS13C NM_020821.3(VPS13C):c.9568G>T (p.Glu3190Ter) SNV Pathogenic 222069 rs869312810 15:62174851-62174851 15:61882652-61882652 PRK057 Parkinson Disease, Late-Onset VPS13C NM_020821.3(VPS13C):c.8445+2T>G SNV Pathogenic 222067 rs869312809 15:62207830-62207830 15:61915631-61915631 PRK057 Parkinson Disease, Late-Onset VPS13C NM_020821.3(VPS13C):c.4777del (p.Gln1593fs) deletion Pathogenic 222071 rs869312811 15:62239491-62239491 15:61947292-61947292 PRK057 Parkinson Disease, Late-Onset VPS13C NM_020821.3(VPS13C):c.4165G>C (p.Gly1389Arg) SNV Pathogenic 222070 rs369100678 15:62250807-62250807 15:61958608-61958608 PRK057 Parkinson Disease, Late-Onset VPS13C NM_020821.3(VPS13C):c.806_807insCAGA (p.Arg269fs) insertion Pathogenic 222068 rs879253853 15:62305256-62305257 15:62013057-62013058 PRK057 Parkinson Disease, Late-Onset GBA NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) SNV Pathogenic/Likely pathogenic 4290 rs76763715 1:155205634-155205634 1:155235843-155235843 PRK057 Parkinson Disease, Late-Onset GBA NM_000157.4(GBA):c.1297G>T (p.Val433Leu) SNV Pathogenic/Likely pathogenic 4292 rs80356769 1:155205563-155205563 1:155235772-155235772 PRK057 Parkinson Disease, Late-Onset GBA NM_000157.4(GBA):c.1342G>C (p.Asp448His) SNV Pathogenic/Likely pathogenic 4293 rs1064651 1:155205518-155205518 1:155235727-155235727 PRK057 Parkinson Disease, Late-Onset GBA NM_000157.4(GBA):c.1444G>A (p.Asp482Asn) SNV risk factor 4335 rs75671029 1:155205047-155205047 1:155235256-155235256 PRK057 Parkinson Disease, Late-Onset LRRK2 NM_198578.4(LRRK2):c.4321C>A (p.Arg1441Ser) SNV Likely pathogenic 225276 rs33939927 12:40704236-40704236 12:40310434-40310434 PRK057 Parkinson Disease, Late-Onset TNR NM_003285.3(TNR):c.538A>C (p.Asn180His) SNV Conflicting interpretations of pathogenicity 224863 rs61731112 1:175372714-175372714 1:175403578-175403578 PRK057 Parkinson Disease, Late-Onset TNR NM_003285.3(TNR):c.496A>G (p.Thr166Ala) SNV Conflicting interpretations of pathogenicity 224864 rs147204644 1:175375355-175375355 1:175406219-175406219 PRK057 Parkinson Disease, Late-Onset DNAJC13 NM_015268.4(DNAJC13):c.2564A>G (p.Asn855Ser) SNV Conflicting interpretations of pathogenicity 56171 rs387907571 3:132196839-132196839 3:132477995-132477995 PRK057 Parkinson Disease, Late-Onset TNK2 NM_005781.4(TNK2):c.2630G>A (p.Arg877His) SNV Conflicting interpretations of pathogenicity 224859 rs112384084 3:195594494-195594494 3:195867623-195867623 PRK057 Parkinson Disease, Late-Onset TNK2 NM_005781.4(TNK2):c.1088T>C (p.Val363Ala) SNV Uncertain significance 224860 rs370013968 3:195605390-195605390 3:195878519-195878519 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.1746G>A (p.Val582=) SNV Uncertain significance 331657 rs886054976 2:157182307-157182307 2:156325795-156325795 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.1635G>T (p.Gly545=) SNV Uncertain significance 331659 rs886054978 2:157182418-157182418 2:156325906-156325906 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.-166C>G SNV Uncertain significance 331665 rs755057457 2:157189031-157189031 2:156332519-156332519 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.-325C>G SNV Uncertain significance 331669 rs886054981 2:157189190-157189190 2:156332678-156332678 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.-144G>A SNV Uncertain significance 331664 rs886054979 2:157189009-157189009 2:156332497-156332497 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.657T>C (p.Ala219=) SNV Uncertain significance 331662 rs769677341 2:157186042-157186042 2:156329530-156329530 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.3(NR4A2):c.-384T>C SNV Uncertain significance 331670 rs886054982 2:157189249-157189249 2:156332737-156332737 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.*1198C>T SNV Uncertain significance 331649 rs577905348 2:157181058-157181058 2:156324546-156324546 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.1659C>G (p.Ser553=) SNV Uncertain significance 331658 rs886054977 2:157182394-157182394 2:156325882-156325882 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.1158+13C>T SNV Uncertain significance 331660 rs372468197 2:157184350-157184350 2:156327838-156327838 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.-227C>G SNV Uncertain significance 331667 rs886054980 2:157189092-157189092 2:156332580-156332580 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.-241C>G SNV Uncertain significance 331668 rs536532102 2:157189106-157189106 2:156332594-156332594 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.*192C>G SNV Uncertain significance 331656 rs747113198 2:157182064-157182064 2:156325552-156325552 PRK057 Parkinson Disease, Late-Onset NR4A2 NR4A2, 1-BP DEL, -291T deletion Uncertain significance 7679 PRK057 Parkinson Disease, Late-Onset TNK2 NM_005781.4(TNK2):c.1912G>A (p.Val638Met) SNV Uncertain significance 88849 rs201407161 3:195595212-195595212 3:195868341-195868341 PRK057 Parkinson Disease, Late-Onset NR4A2 NR4A2, -245T-G SNV Uncertain significance 7680 PRK057 Parkinson Disease, Late-Onset GBA NM_000157.4(GBA):c.1440G>C (p.Lys480Asn) SNV Uncertain significance 209103 rs1057519356 1:155205051-155205051 1:155235260-155235260 PRK057 Parkinson Disease, Late-Onset GBA NM_000157.4(GBA):c.1277C>T (p.Pro426Leu) SNV Uncertain significance 209104 rs1057519357 1:155205583-155205583 1:155235792-155235792 PRK057 Parkinson Disease, Late-Onset GBA NM_000157.4(GBA):c.221G>C (p.Gly74Ala) SNV Uncertain significance 209102 rs371592589 1:155209763-155209763 1:155239972-155239972 PRK057 Parkinson Disease, Late-Onset GBA NM_000157.4(GBA):c.1220T>C (p.Ile407Thr) SNV Uncertain significance 212789 rs1057519358 1:155206040-155206040 1:155236249-155236249 PRK057 Parkinson Disease, Late-Onset PODXL NM_001018111.3(PODXL):c.1381C>A (p.Pro461Thr) SNV Uncertain significance 218943 rs869312170 7:131190725-131190725 7:131505966-131505966 PRK057 Parkinson Disease, Late-Onset PODXL NM_001018111.3(PODXL):c.1214G>A (p.Ser405Asn) SNV Uncertain significance 218944 rs869312171 7:131191373-131191373 7:131506614-131506614 PRK057 Parkinson Disease, Late-Onset PODXL NM_001018111.3(PODXL):c.977G>A (p.Arg326Gln) SNV Uncertain significance 218945 rs869312172 7:131194170-131194170 7:131509411-131509411 PRK057 Parkinson Disease, Late-Onset TNR NM_003285.3(TNR):c.463T>A (p.Cys155Ser) SNV Uncertain significance 224865 rs150331590 1:175375388-175375388 1:175406252-175406252 PRK057 Parkinson Disease, Late-Onset TNK2 NM_005781.4(TNK2):c.2930C>T (p.Ala977Val) SNV Uncertain significance 224858 rs571171423 3:195594092-195594092 3:195867221-195867221 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.3(NR4A2):c.*1311A>G SNV Uncertain significance 331648 rs886054974 2:157180945-157180945 2:156324433-156324433 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.*822A>C SNV Uncertain significance 331651 rs886054975 2:157181434-157181434 2:156324922-156324922 PRK057 Parkinson Disease, Late-Onset TNR NM_003285.3(TNR):c.1774A>G (p.Thr592Ala) SNV Uncertain significance 224861 rs140481433 1:175355171-175355171 1:175386035-175386035 PRK057 Parkinson Disease, Late-Onset TNR NM_003285.3(TNR):c.1732C>T (p.Arg578Ter) SNV Uncertain significance 224862 rs869312899 1:175355213-175355213 1:175386077-175386077 PRK057 Parkinson Disease, Late-Onset PARK7 NM_007262.5(PARK7):c.399G>C (p.Met133Ile) SNV Uncertain significance 96726 rs398124657 1:8037788-8037788 1:7977728-7977728 PRK057 Parkinson Disease, Late-Onset VPS35 NM_018206.6(VPS35):c.1576C>T (p.Arg526Cys) SNV Uncertain significance 96727 rs398124658 16:46702913-46702913 16:46669001-46669001 PRK057 Parkinson Disease, Late-Onset PINK1 NM_032409.3(PINK1):c.644C>T (p.Pro215Leu) SNV Uncertain significance 96728 rs371854396 1:20964591-20964591 1:20638098-20638098 PRK057 Parkinson Disease, Late-Onset PINK1 NM_032409.3(PINK1):c.923T>A (p.Leu308Gln) SNV Uncertain significance 96729 rs398124659 1:20971129-20971129 1:20644636-20644636 PRK057 Parkinson Disease, Late-Onset LRRK2 NM_198578.4(LRRK2):c.2352C>A (p.Ser784Arg) SNV Uncertain significance 96730 rs398124660 12:40677787-40677787 12:40283985-40283985 PRK057 Parkinson Disease, Late-Onset LRRK2 NM_198578.4(LRRK2):c.7300A>G (p.Ile2434Val) SNV Uncertain significance 96731 rs398124661 12:40758762-40758762 12:40364960-40364960 PRK057 Parkinson Disease, Late-Onset FGF20 NM_019851.3(FGF20):c.*182C>T SNV Uncertain significance 4885 rs12720208 8:16850399-16850399 8:16992890-16992890 PRK057 Parkinson Disease, Late-Onset MAPT NM_016835.4(MAPT):c.890C>T (p.Ala297Val) SNV Uncertain significance 429936 rs377402921 17:44061060-44061060 17:45983694-45983694 PRK057 Parkinson Disease, Late-Onset MAPT NM_016835.4(MAPT):c.47G>T (p.Gly16Val) SNV Uncertain significance 548576 rs755131800 17:44039750-44039750 17:45962384-45962384 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.*1017T>C SNV Uncertain significance 892746 2:157181239-157181239 2:156324727-156324727 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.*599T>G SNV Uncertain significance 892747 2:157181657-157181657 2:156325145-156325145 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.1588A>C (p.Lys530Gln) SNV Uncertain significance 893544 2:157182465-157182465 2:156325953-156325953 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.1548C>T (p.His516=) SNV Uncertain significance 893837 2:157182505-157182505 2:156325993-156325993 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.1273C>T (p.Pro425Ser) SNV Uncertain significance 893838 2:157183318-157183318 2:156326806-156326806 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.1230G>A (p.Leu410=) SNV Uncertain significance 893839 2:157183361-157183361 2:156326849-156326849 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.1170C>A (p.Asn390Lys) SNV Uncertain significance 893840 2:157183421-157183421 2:156326909-156326909 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.1163A>T (p.Gln388Leu) SNV Uncertain significance 893841 2:157183428-157183428 2:156326916-156326916 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.591C>A (p.Pro197=) SNV Uncertain significance 894758 2:157186108-157186108 2:156329596-156329596 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.372C>T (p.Pro124=) SNV Uncertain significance 894759 2:157186327-157186327 2:156329815-156329815 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.360T>G (p.Val120=) SNV Uncertain significance 894760 2:157186339-157186339 2:156329827-156329827 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.325C>G (p.Gln109Glu) SNV Uncertain significance 894761 2:157186374-157186374 2:156329862-156329862 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.325C>A (p.Gln109Lys) SNV Uncertain significance 894762 2:157186374-157186374 2:156329862-156329862 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.-253C>T SNV Uncertain significance 892775 2:157189118-157189118 2:156332606-156332606 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.-304C>T SNV Uncertain significance 892776 2:157189169-157189169 2:156332657-156332657 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.-339C>A SNV Uncertain significance 892777 2:157189204-157189204 2:156332692-156332692 PRK057 Parkinson Disease, Late-Onset NR4A2 NC_000002.12:g.156332790T>C SNV Uncertain significance 893588 2:157189302-157189302 2:156332790-156332790 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.1638G>A (p.Leu546=) SNV Likely benign 893543 2:157182415-157182415 2:156325903-156325903 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.*1249A>G SNV Likely benign 892745 2:157181007-157181007 2:156324495-156324495 PRK057 Parkinson Disease, Late-Onset SNCAIP NM_005460.4(SNCAIP):c.1861C>T (p.Arg621Cys) SNV Likely benign 6078 rs28937592 5:121786403-121786403 5:122450708-122450708 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.-223C>T SNV Likely benign 331666 rs114461423 2:157189088-157189088 2:156332576-156332576 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.*933G>A SNV Likely benign 331650 rs563505935 2:157181323-157181323 2:156324811-156324811 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.585C>T (p.Asp195=) SNV Likely benign 331663 rs143064317 2:157186114-157186114 2:156329602-156329602 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.732C>A (p.Leu244=) SNV Benign/Likely benign 331661 rs16840266 2:157185967-157185967 2:156329455-156329455 PRK057 Parkinson Disease, Late-Onset GBA NM_000157.4(GBA):c.1223C>T (p.Thr408Met) SNV Benign/Likely benign 93447 rs75548401 1:155206037-155206037 1:155236246-155236246 PRK057 Parkinson Disease, Late-Onset ND1 m.3397A>G SNV Benign 9726 rs199476120 MT:3397-3397 MT:3397-3397 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.*352C>A SNV Benign 331654 rs115393922 2:157181904-157181904 2:156325392-156325392 PRK057 Parkinson Disease, Late-Onset DBH NM_000787.3(DBH):c.-979T= SNV Benign 1749 rs1611115 9:136500515-136500515 9:133635393-133635393 PRK057 Parkinson Disease, Late-Onset NR4A2 NM_006186.4(NR4A2):c.*331T>G SNV Benign 331655 rs12803 2:157181925-157181925 2:156325413-156325413 PRK057 Parkinson Disease, Late-Onset TRNK m.8344A>G SNV Pathogenic 9579 rs118192098 MT:8344-8344 MT:8344-8344 PRK088 Parkinson Disease, Mitochondrial ADH1C NM_000669.5(ADH1C):c.232G>T (p.Gly78Ter) SNV risk factor 18181 rs283413 4:100268190-100268190 4:99347033-99347033 PRK088 Parkinson Disease, Mitochondrial TRNT m.15950G>A SNV Uncertain significance 9559 rs118203890 MT:15950-15950 MT:15950-15950 PRK088 Parkinson Disease, Mitochondrial TRNP m.15965A>G SNV Benign 9571 rs199474700 MT:15965-15965 MT:15965-15965 PRK088 Parkinson Disease, Mitochondrial NDUFV2 NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala) SNV Benign 9054 rs906807 18:9117867-9117867 18:9117869-9117869 PRK088 Parkinson Disease, Mitochondrial ACADVL NM_000018.4(ACADVL):c.325G>A (p.Val109Met) SNV Uncertain significance 523060 rs754207297 17:7124132-7124132 17:7220813-7220813 PRS127 Pearson Marrow-Pancreas Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1707+5G>A SNV Pathogenic 446457 rs192366176 7:107340625-107340625 7:107700180-107700180 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1149+1del deletion Pathogenic 402275 rs1060499807 7:107329645-107329645 7:107689200-107689200 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser) SNV Pathogenic 402277 rs1060499808 7:107344789-107344789 7:107704344-107704344 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1147del (p.Gln383fs) deletion Pathogenic 553520 rs1374999656 7:107329642-107329642 7:107689197-107689197 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2044G>T (p.Glu682Ter) SNV Pathogenic 558657 rs1554361584 7:107344785-107344785 7:107704340-107704340 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.349del (p.Leu117fs) deletion Pathogenic 551863 rs1275009555 7:107312627-107312627 7:107672182-107672182 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2118C>A (p.Cys706Ter) SNV Pathogenic 551315 rs142656144 7:107350527-107350527 7:107710082-107710082 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1746del (p.Ala584fs) deletion Pathogenic 627476 rs1241745103 7:107341584-107341584 7:107701139-107701139 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1458dup (p.Ile487fs) duplication Pathogenic 813397 7:107336397-107336398 7:107695952-107695953 PND002 Pendred Syndrome SLC26A4 SLC26A4, 1-BP DEL, 1565G deletion Pathogenic 4813 PND002 Pendred Syndrome SLC26A4 SLC26A4, 1-BP DEL, 1421T deletion Pathogenic 4814 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2000T>G (p.Phe667Cys) SNV Pathogenic 4812 rs121908360 7:107342468-107342468 7:107702023-107702023 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) SNV Pathogenic 43510 rs111033308 7:107336429-107336429 7:107695984-107695984 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) SNV Pathogenic 4817 rs80338848 7:107315496-107315496 7:107675051-107675051 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) SNV Pathogenic 4818 rs28939086 7:107330665-107330665 7:107690220-107690220 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1001+1G>A SNV Pathogenic 4819 rs80338849 7:107323983-107323983 7:107683538-107683538 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) SNV Pathogenic 4826 rs121908363 7:107350571-107350571 7:107710126-107710126 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.415+7A>G SNV Pathogenic 4828 7:107312700-107312700 7:107672255-107672255 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) SNV Pathogenic 4829 rs111033307 7:107334918-107334918 7:107694473-107694473 PND002 Pendred Syndrome SLC26A4 SLC26A4, 1-BP DEL, 1197T deletion Pathogenic 4831 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2182_2183insG (p.Tyr728Ter) insertion Pathogenic 4832 7:107350591-107350592 7:107710146-107710147 PND002 Pendred Syndrome SLC26A4 SLC26A4, IVS8, C-G, 1002-4 SNV Pathogenic 4833 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) SNV Pathogenic 4821 rs111033303 7:107315415-107315415 7:107674970-107674970 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) SNV Pathogenic 4835 rs111033199 7:107312690-107312690 7:107672245-107672245 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) SNV Pathogenic 4839 rs111033205 7:107302171-107302171 7:107661726-107661726 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.919-2A>G SNV Pathogenic 4840 rs111033313 7:107323898-107323898 7:107683453-107683453 PND002 Pendred Syndrome FOXI1 NM_012188.5(FOXI1):c.800G>A (p.Arg267Gln) SNV Pathogenic 8450 rs121909341 5:169535278-169535278 5:170108274-170108274 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met) SNV Pathogenic 43495 rs397516414 7:107330623-107330623 7:107690178-107690178 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) SNV Pathogenic 43496 rs111033305 7:107330645-107330645 7:107690200-107690200 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) SNV Pathogenic 43498 rs111033220 7:107330648-107330648 7:107690203-107690203 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1341+1del deletion Pathogenic 43505 rs397516417 7:107334925-107334925 7:107694480-107694480 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) SNV Pathogenic 43511 rs111033316 7:107336481-107336481 7:107696036-107696036 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1614+1G>A SNV Pathogenic 43516 rs111033312 7:107338557-107338557 7:107698112-107698112 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.164+2T>C SNV Pathogenic 43518 rs397516420 7:107302252-107302252 7:107661807-107661807 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.294_298del (p.Thr99fs) deletion Pathogenic 43551 rs111033241 7:107303868-107303872 7:107663423-107663427 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.997dup (p.Arg333fs) duplication Pathogenic 97015 rs431905486 7:107323976-107323977 7:107683531-107683532 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2089+1G>A SNV Pathogenic 165263 rs727503430 7:107344831-107344831 7:107704386-107704386 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.365dup (p.Ile124fs) duplication Pathogenic 189148 rs786204730 7:107312637-107312638 7:107672192-107672193 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.249G>A (p.Trp83Ter) SNV Pathogenic 370650 rs1057516658 7:107303825-107303825 7:107663380-107663380 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile) SNV Pathogenic 371034 rs1057516953 7:107303857-107303857 7:107663412-107663412 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.416-1G>A SNV Pathogenic 371079 rs1057516988 7:107314608-107314608 7:107674163-107674163 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.600+2T>A SNV Pathogenic 370937 rs1057516881 7:107314795-107314795 7:107674350-107674350 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1341+1G>C SNV Pathogenic 370343 rs376653349 7:107334926-107334926 7:107694481-107694481 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2228T>A (p.Leu743Ter) SNV Pathogenic 371476 rs1057517303 7:107350637-107350637 7:107710192-107710192 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2319+1G>A SNV Pathogenic/Likely pathogenic 371164 rs542079779 7:107353068-107353068 7:107712623-107712623 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.916dup (p.Val306fs) duplication Pathogenic/Likely pathogenic 370192 rs768245266 7:107323796-107323797 7:107683351-107683352 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.918+2T>C SNV Pathogenic/Likely pathogenic 370108 rs912147281 7:107323801-107323801 7:107683356-107683356 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1001+1G>T SNV Pathogenic/Likely pathogenic 370123 rs80338849 7:107323983-107323983 7:107683538-107683538 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys) SNV Pathogenic/Likely pathogenic 371421 rs147952620 7:107330644-107330644 7:107690199-107690199 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter) SNV Pathogenic/Likely pathogenic 371369 rs201636911 7:107302228-107302228 7:107661783-107661783 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1544+1G>A SNV Pathogenic/Likely pathogenic 228395 rs876657722 7:107336485-107336485 7:107696040-107696040 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.279del (p.Ser93fs) deletion Pathogenic/Likely pathogenic 188715 rs786204421 7:107303855-107303855 7:107663410-107663410 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.304+2T>C SNV Pathogenic/Likely pathogenic 189167 rs746238617 7:107303882-107303882 7:107663437-107663437 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1522A>G (p.Thr508Ala) SNV Pathogenic/Likely pathogenic 179732 rs727505088 7:107336462-107336462 7:107696017-107696017 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) SNV Pathogenic/Likely pathogenic 188950 rs786204581 7:107303811-107303811 7:107663366-107663366 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val) SNV Pathogenic/Likely pathogenic 188793 rs786204474 7:107329575-107329575 7:107689130-107689130 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter) SNV Pathogenic/Likely pathogenic 189017 rs368119540 7:107342388-107342388 7:107701943-107701943 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu) SNV Pathogenic/Likely pathogenic 188889 rs200455203 7:107342443-107342443 7:107701998-107701998 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter) SNV Pathogenic/Likely pathogenic 189164 rs752807925 7:107344827-107344827 7:107704382-107704382 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser) SNV Pathogenic/Likely pathogenic 189160 rs786204739 7:107338528-107338528 7:107698083-107698083 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2215C>T (p.Gln739Ter) SNV Pathogenic/Likely pathogenic 165265 rs727503431 7:107350624-107350624 7:107710179-107710179 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile) SNV Pathogenic/Likely pathogenic 188721 rs786204426 7:107302089-107302089 7:107661644-107661644 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg) SNV Pathogenic/Likely pathogenic 188998 rs539699299 7:107302170-107302170 7:107661725-107661725 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.164+1del deletion Pathogenic/Likely pathogenic 188838 rs786204504 7:107302250-107302250 7:107661805-107661805 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) SNV Pathogenic/Likely pathogenic 43566 rs111033256 7:107315505-107315505 7:107675060-107675060 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter) SNV Pathogenic/Likely pathogenic 43569 rs111033205 7:107302171-107302171 7:107661726-107661726 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.68C>A (p.Ser23Ter) SNV Pathogenic/Likely pathogenic 43563 rs397516430 7:107302154-107302154 7:107661709-107661709 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1437+2T>G SNV Pathogenic/Likely pathogenic 43508 rs397516418 7:107335163-107335163 7:107694718-107694718 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1264-1G>C SNV Pathogenic/Likely pathogenic 43500 rs111033311 7:107334847-107334847 7:107694402-107694402 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1281_1283TGC[1] (p.Ala429del) short repeat Pathogenic/Likely pathogenic 43501 rs111033306 7:107334864-107334866 7:107694419-107694421 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) deletion Pathogenic/Likely pathogenic 43494 rs397516413 7:107330616-107330616 7:107690171-107690171 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter) SNV Pathogenic/Likely pathogenic 43504 rs397516416 7:107334920-107334920 7:107694475-107694475 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.-3-2A>G SNV Pathogenic/Likely pathogenic 43486 rs397516411 7:107302082-107302082 7:107661637-107661637 PND002 Pendred Syndrome SLC26A4-AS1 NM_000441.2(SLC26A4):c.-3-2A>G SNV Pathogenic/Likely pathogenic 43486 rs397516411 7:107302082-107302082 7:107661637-107661637 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) SNV Pathogenic/Likely pathogenic 4836 rs111033254 7:107338530-107338530 7:107698085-107698085 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) SNV Pathogenic/Likely pathogenic 4825 rs121908362 7:107350577-107350577 7:107710132-107710132 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile) SNV Pathogenic/Likely pathogenic 4830 rs111033348 7:107314771-107314771 7:107674326-107674326 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) SNV Pathogenic/Likely pathogenic 4820 rs111033244 7:107330570-107330570 7:107690125-107690125 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1105A>T (p.Lys369Ter) SNV Pathogenic/Likely pathogenic 553253 rs121908361 7:107329601-107329601 7:107689156-107689156 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.165-1G>A SNV Pathogenic/Likely pathogenic 828068 7:107303740-107303740 7:107663295-107663295 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro) SNV Pathogenic/Likely pathogenic 446454 rs1554360358 7:107338521-107338521 7:107698076-107698076 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys) SNV Pathogenic/Likely pathogenic 446456 rs763006761 7:107340580-107340580 7:107700135-107700135 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1415G>A (p.Trp472Ter) SNV Pathogenic/Likely pathogenic 553228 rs1554359693 7:107335139-107335139 7:107694694-107694694 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.737del (p.Asn246fs) deletion Pathogenic/Likely pathogenic 558078 rs918684449 7:107315522-107315522 7:107675077-107675077 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) SNV Likely pathogenic 430229 rs201660407 7:107330681-107330681 7:107690236-107690236 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1342-2A>C SNV Likely pathogenic 558371 rs1413121429 7:107335064-107335064 7:107694619-107694619 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu) SNV Likely pathogenic 549979 rs747076316 7:107335067-107335067 7:107694622-107694622 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2090-1G>A SNV Likely pathogenic 553831 rs1455597424 7:107350498-107350498 7:107710053-107710053 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1739_1740AG[1] (p.Arg581fs) short repeat Likely pathogenic 552487 rs1554360841 7:107341577-107341578 7:107701132-107701133 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1768A>T (p.Lys590Ter) SNV Likely pathogenic 550718 rs778901860 7:107341606-107341606 7:107701161-107701161 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu) SNV Likely pathogenic 556058 rs111033199 7:107312690-107312690 7:107672245-107672245 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.454del (p.Val152fs) deletion Likely pathogenic 552989 rs1554354801 7:107314647-107314647 7:107674202-107674202 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.765_765+3del deletion Likely pathogenic 551090 rs756076960 7:107315552-107315555 7:107675107-107675110 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2175_2176TA[3] (p.Leu727fs) short repeat Likely pathogenic 552774 rs1298217152 7:107350583-107350584 7:107710138-107710139 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.164+2T>A SNV Likely pathogenic 553446 rs397516420 7:107302252-107302252 7:107661807-107661807 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2089+2T>A SNV Likely pathogenic 556305 rs1554361624 7:107344832-107344832 7:107704387-107704387 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.259G>T (p.Asp87Tyr) SNV Likely pathogenic 552777 rs1554352718 7:107303835-107303835 7:107663390-107663390 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2186T>C (p.Leu729Pro) SNV Likely pathogenic 552468 rs1045933779 7:107350595-107350595 7:107710150-107710150 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.440T>C (p.Met147Thr) SNV Likely pathogenic 556648 rs1554354787 7:107314633-107314633 7:107674188-107674188 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro) SNV Likely pathogenic 556159 rs201660407 7:107330681-107330681 7:107690236-107690236 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1707+2T>C SNV Likely pathogenic 552759 rs1554360707 7:107340622-107340622 7:107700177-107700177 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys) SNV Likely pathogenic 550172 rs1554359670 7:107335095-107335095 7:107694650-107694650 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.563T>C (p.Ile188Thr) SNV Likely pathogenic 551311 rs1205712508 7:107314756-107314756 7:107674311-107674311 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg) SNV Likely pathogenic 550505 rs768471577 7:107334921-107334921 7:107694476-107694476 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1922del (p.Asn641fs) deletion Likely pathogenic 813398 7:107342389-107342389 7:107701944-107701944 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.919-19_932del deletion Likely pathogenic 557111 rs1554357206 7:107323879-107323911 7:107683434-107683466 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2235+2T>C SNV Likely pathogenic 557027 rs1554362815 7:107350646-107350646 7:107710201-107710201 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.227C>T (p.Pro76Leu) SNV Likely pathogenic 551009 rs1345175795 7:107303803-107303803 7:107663358-107663358 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr) SNV Likely pathogenic 4834 rs121908365 7:107312675-107312675 7:107672230-107672230 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr) SNV Likely pathogenic 43519 rs111033257 7:107340607-107340607 7:107700162-107700162 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) SNV Likely pathogenic 43521 rs397516421 7:107341546-107341546 7:107701101-107701101 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.170C>G (p.Ser57Ter) SNV Likely pathogenic 43522 rs111033200 7:107303746-107303746 7:107663301-107663301 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) SNV Likely pathogenic 43528 rs397516424 7:107342431-107342431 7:107701986-107701986 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) SNV Likely pathogenic 43533 rs111033318 7:107342495-107342495 7:107702050-107702050 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) SNV Likely pathogenic 43555 rs145254330 7:107312627-107312627 7:107672182-107672182 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) SNV Likely pathogenic 43568 rs111033454 7:107323726-107323726 7:107683281-107683281 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.918+1G>T SNV Likely pathogenic 43571 rs111033245 7:107323800-107323800 7:107683355-107683355 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.165-2A>G SNV Likely pathogenic 188772 rs786204458 7:107303739-107303739 7:107663294-107663294 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1919G>A (p.Trp640Ter) SNV Likely pathogenic 188835 rs786204502 7:107342387-107342387 7:107701942-107701942 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) SNV Likely pathogenic 43565 rs111033242 7:107315495-107315495 7:107675050-107675050 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2127del (p.Phe709fs) deletion Likely pathogenic 188869 rs786204523 7:107350534-107350534 7:107710089-107710089 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer) deletion Likely pathogenic 188978 rs786204601 7:107336459-107336459 7:107696014-107696014 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs) duplication Likely pathogenic 188759 rs786204450 7:107338487-107338488 7:107698042-107698043 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.890del (p.Pro297fs) deletion Likely pathogenic 188977 rs786204600 7:107323769-107323769 7:107683324-107683324 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) SNV Likely pathogenic 189039 rs146281367 7:107323982-107323982 7:107683537-107683537 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu) SNV Likely pathogenic 188842 rs370588279 7:107303845-107303845 7:107663400-107663400 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly) SNV Likely pathogenic 228396 rs757820624 7:107350580-107350580 7:107710135-107710135 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1238del (p.Gln413fs) deletion Likely pathogenic 370255 rs1057516354 7:107330657-107330657 7:107690212-107690212 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.55del (p.Ser19fs) deletion Likely pathogenic 370620 rs1057516634 7:107302141-107302141 7:107661696-107661696 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.619C>T (p.Gln207Ter) SNV Likely pathogenic 370676 rs1057516678 7:107315408-107315408 7:107674963-107674963 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.858_865del (p.Lys286_Glu287insTer) deletion Likely pathogenic 371404 rs1057517246 7:107323735-107323742 7:107683290-107683297 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1238A>G (p.Gln413Arg) SNV Likely pathogenic 370080 rs142498437 7:107330657-107330657 7:107690212-107690212 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1263+1G>A SNV Likely pathogenic 371209 rs1057517000 7:107330683-107330683 7:107690238-107690238 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1263+1G>T SNV Likely pathogenic 371092 rs1057517000 7:107330683-107330683 7:107690238-107690238 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1160C>T (p.Ala387Val) SNV Likely pathogenic 370578 rs777333979 7:107330579-107330579 7:107690134-107690134 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1173C>A (p.Ser391Arg) SNV Likely pathogenic 371146 rs1057517042 7:107330592-107330592 7:107690147-107690147 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1178_1180TCT[1] (p.Phe394del) short repeat Likely pathogenic 370463 rs777008062 7:107330597-107330599 7:107690152-107690154 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1342-1G>T SNV Likely pathogenic 371471 rs1057517298 7:107335065-107335065 7:107694620-107694620 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1438-2A>G SNV Likely pathogenic 370721 rs1057516717 7:107336376-107336376 7:107695931-107695931 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1539_1544+6del deletion Likely pathogenic 370498 rs1057516535 7:107336475-107336486 7:107696030-107696041 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1595G>T (p.Ser532Ile) SNV Likely pathogenic 370114 rs1057516243 7:107338537-107338537 7:107698092-107698092 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1949T>A (p.Val650Asp) SNV Likely pathogenic 371298 rs1057517161 7:107342417-107342417 7:107701972-107701972 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1966del (p.His656fs) deletion Likely pathogenic 370622 rs1057516636 7:107342433-107342433 7:107701988-107701988 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2067del (p.Asn689fs) deletion Likely pathogenic 370824 rs1057516796 7:107344808-107344808 7:107704363-107704363 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2153T>C (p.Phe718Ser) SNV Likely pathogenic 381687 rs750834241 7:107350562-107350562 7:107710117-107710117 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1265T>C (p.Val422Ala) SNV Conflicting interpretations of pathogenicity 378599 rs1057520369 7:107334849-107334849 7:107694404-107694404 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.601-5C>T SNV Conflicting interpretations of pathogenicity 358495 rs546450643 7:107315385-107315385 7:107674940-107674940 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*614C>T SNV Conflicting interpretations of pathogenicity 358510 rs77315223 7:107356505-107356505 7:107716060-107716060 PND002 Pendred Syndrome FOXI1 NM_012188.5(FOXI1):c.825C>T (p.Ala275=) SNV Conflicting interpretations of pathogenicity 285399 rs147596900 5:169535303-169535303 5:170108299-170108299 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*1839C>T SNV Conflicting interpretations of pathogenicity 293099 rs138511291 1:160009344-160009344 1:160039554-160039554 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*2490G>A SNV Conflicting interpretations of pathogenicity 293085 rs190897143 1:160008693-160008693 1:160038903-160038903 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*2394T>C SNV Conflicting interpretations of pathogenicity 293088 rs116235450 1:160008789-160008789 1:160038999-160038999 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*3506C>T SNV Conflicting interpretations of pathogenicity 293072 rs79012831 1:160007677-160007677 1:160037887-160037887 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*2596A>G SNV Conflicting interpretations of pathogenicity 293082 rs116418256 1:160008587-160008587 1:160038797-160038797 PND002 Pendred Syndrome FOXI1 NM_012188.5(FOXI1):c.308G>C (p.Gly103Ala) SNV Conflicting interpretations of pathogenicity 352703 rs370450076 5:169533269-169533269 5:170106265-170106265 PND002 Pendred Syndrome FOXI1 NM_012188.5(FOXI1):c.318C>G (p.Asp106Glu) SNV Conflicting interpretations of pathogenicity 352704 rs114293092 5:169533279-169533279 5:170106275-170106275 PND002 Pendred Syndrome FOXI1 NM_012188.5(FOXI1):c.972G>C (p.Pro324=) SNV Conflicting interpretations of pathogenicity 352710 rs56128152 5:169535450-169535450 5:170108446-170108446 PND002 Pendred Syndrome FOXI1 NM_012188.5(FOXI1):c.822C>T (p.Gly274=) SNV Conflicting interpretations of pathogenicity 352706 rs149203108 5:169535300-169535300 5:170108296-170108296 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) SNV Conflicting interpretations of pathogenicity 188878 rs542620119 7:107314747-107314747 7:107674302-107674302 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly) SNV Conflicting interpretations of pathogenicity 195165 rs145947380 1:160011793-160011793 1:160042003-160042003 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.441G>A (p.Met147Ile) SNV Conflicting interpretations of pathogenicity 229258 rs201905280 7:107314634-107314634 7:107674189-107674189 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.225C>G (p.Leu75=) SNV Conflicting interpretations of pathogenicity 225473 rs187447337 7:107303801-107303801 7:107663356-107663356 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.735C>G (p.Asp245Glu) SNV Conflicting interpretations of pathogenicity 205815 rs146426296 1:160011588-160011588 1:160041798-160041798 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.615A>G (p.Lys205=) SNV Conflicting interpretations of pathogenicity 287539 rs142228240 1:160011708-160011708 1:160041918-160041918 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2320-4A>C SNV Conflicting interpretations of pathogenicity 165267 rs727503432 7:107355864-107355864 7:107715419-107715419 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile) SNV Conflicting interpretations of pathogenicity 179723 rs727505080 7:107323722-107323722 7:107683277-107683277 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=) SNV Conflicting interpretations of pathogenicity 179617 rs727504993 7:107329546-107329546 7:107689101-107689101 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1544+9C>T SNV Conflicting interpretations of pathogenicity 165255 rs368970459 7:107336493-107336493 7:107696048-107696048 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2211G>C (p.Glu737Asp) SNV Conflicting interpretations of pathogenicity 177717 rs200664061 7:107350620-107350620 7:107710175-107710175 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp) SNV Conflicting interpretations of pathogenicity 43573 rs143002265 7:107323945-107323945 7:107683500-107683500 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.-43G>A SNV Conflicting interpretations of pathogenicity 137982 rs372841245 1:160039854-160039854 1:160070064-160070064 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.416-13T>C SNV Conflicting interpretations of pathogenicity 43557 rs77553387 7:107314596-107314596 7:107674151-107674151 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His) SNV Conflicting interpretations of pathogenicity 43543 rs142723249 7:107350599-107350599 7:107710154-107710154 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys) SNV Conflicting interpretations of pathogenicity 43547 rs111033255 7:107355874-107355874 7:107715429-107715429 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser) SNV Conflicting interpretations of pathogenicity 43531 rs111033240 7:107303776-107303776 7:107663331-107663331 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) SNV Conflicting interpretations of pathogenicity 43532 rs111033309 7:107342483-107342483 7:107702038-107702038 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) SNV Conflicting interpretations of pathogenicity 43524 rs111033423 7:107302103-107302103 7:107661658-107661658 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) SNV Conflicting interpretations of pathogenicity 43515 rs7811324 7:107302101-107302101 7:107661656-107661656 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu) SNV Conflicting interpretations of pathogenicity 177738 rs200511789 7:107336408-107336408 7:107695963-107695963 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) SNV Conflicting interpretations of pathogenicity 43492 rs111033243 7:107329557-107329557 7:107689112-107689112 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) SNV Conflicting interpretations of pathogenicity 4842 rs111033212 7:107329499-107329499 7:107689054-107689054 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*376A>G SNV Conflicting interpretations of pathogenicity 912067 7:107356267-107356267 7:107715822-107715822 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1614+7A>G SNV Conflicting interpretations of pathogenicity 592938 rs199643344 7:107338563-107338563 7:107698118-107698118 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*350C>T SNV Conflicting interpretations of pathogenicity 912065 7:107356241-107356241 7:107715796-107715796 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.486C>T (p.Leu162=) SNV Conflicting interpretations of pathogenicity 667159 7:107314679-107314679 7:107674234-107674234 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1491T>C (p.Gly497=) SNV Conflicting interpretations of pathogenicity 712915 7:107336431-107336431 7:107695986-107695986 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2040C>T (p.Val680=) SNV Conflicting interpretations of pathogenicity 762514 7:107344781-107344781 7:107704336-107704336 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1905G>A (p.Glu635=) SNV Conflicting interpretations of pathogenicity 551205 rs541538556 7:107342373-107342373 7:107701928-107701928 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.1051G>A (p.Asp351Asn) SNV Conflicting interpretations of pathogenicity 451985 rs373899425 1:160011272-160011272 1:160041482-160041482 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.236G>A (p.Arg79Gln) SNV Uncertain significance 502106 rs200706874 7:107303812-107303812 7:107663367-107663367 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.128G>A (p.Arg43His) SNV Uncertain significance 504923 rs372116042 7:107302214-107302214 7:107661769-107661769 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.415+4A>G SNV Uncertain significance 504512 rs368280107 7:107312697-107312697 7:107672252-107672252 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.511C>T (p.Arg171Trp) SNV Uncertain significance 537736 rs769666695 1:160011812-160011812 1:160042022-160042022 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.395C>T (p.Thr132Ile) SNV Uncertain significance 550080 rs1554354370 7:107312673-107312673 7:107672228-107672228 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.409T>C (p.Ser137Pro) SNV Uncertain significance 551096 rs1554354382 7:107312687-107312687 7:107672242-107672242 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.416G>C (p.Gly139Ala) SNV Uncertain significance 556091 rs756272252 7:107314609-107314609 7:107674164-107674164 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.765+4A>C SNV Uncertain significance 557367 rs774353111 7:107315558-107315558 7:107675113-107675113 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1001+4A>G SNV Uncertain significance 551318 rs1262298247 7:107323986-107323986 7:107683541-107683541 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1001+5G>T SNV Uncertain significance 557483 rs780131226 7:107323987-107323987 7:107683542-107683542 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1987G>A (p.Gly663Arg) SNV Uncertain significance 552273 rs1554361031 7:107342455-107342455 7:107702010-107702010 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1993A>G (p.Ile665Val) SNV Uncertain significance 556897 rs371998143 7:107342461-107342461 7:107702016-107702016 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1796C>T (p.Ala599Val) SNV Uncertain significance 555607 rs201709908 7:107341634-107341634 7:107701189-107701189 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2132_2134ACA[1] (p.Asn712del) short repeat Uncertain significance 550239 rs1554362748 7:107350541-107350543 7:107710096-107710098 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2080T>C (p.Ser694Pro) SNV Uncertain significance 557179 rs981410021 7:107344821-107344821 7:107704376-107704376 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1511T>C (p.Phe504Ser) SNV Uncertain significance 558262 rs1298350213 7:107336451-107336451 7:107696006-107696006 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1529T>A (p.Val510Asp) SNV Uncertain significance 557512 rs1554359973 7:107336469-107336469 7:107696024-107696024 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1252G>A (p.Gly418Arg) SNV Uncertain significance 550078 rs1376210516 7:107330671-107330671 7:107690226-107690226 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.890C>A (p.Pro297Gln) SNV Uncertain significance 558188 rs867212046 7:107323771-107323771 7:107683326-107683326 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1290_1295dup (p.Ile430_Val431dup) duplication Uncertain significance 552507 rs1554359598 7:107334870-107334871 7:107694425-107694426 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1397G>A (p.Cys466Tyr) SNV Uncertain significance 553838 rs1554359686 7:107335121-107335121 7:107694676-107694676 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1409G>A (p.Arg470His) SNV Uncertain significance 550964 rs200779286 7:107335133-107335133 7:107694688-107694688 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met) SNV Uncertain significance 554960 rs370029782 7:107336394-107336394 7:107695949-107695949 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1546C>T (p.Pro516Ser) SNV Uncertain significance 555779 rs753960052 7:107338488-107338488 7:107698043-107698043 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.86A>G (p.Glu29Gly) SNV Uncertain significance 552271 rs1446406563 7:107302172-107302172 7:107661727-107661727 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2281_2286del (p.Thr761_Glu762del) deletion Uncertain significance 558465 rs1554363304 7:107353029-107353034 7:107712584-107712589 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*51T>C SNV Uncertain significance 550244 rs371263685 7:107355942-107355942 7:107715497-107715497 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.87G>T (p.Glu29Asp) SNV Uncertain significance 554998 rs1554352240 7:107302173-107302173 7:107661728-107661728 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.149T>C (p.Leu50Pro) SNV Uncertain significance 550555 rs1554352291 7:107302235-107302235 7:107661790-107661790 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.165-13T>G SNV Uncertain significance 555664 rs774685849 7:107303728-107303728 7:107663283-107663283 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.328G>A (p.Ala110Thr) SNV Uncertain significance 557456 rs532132864 7:107312606-107312606 7:107672161-107672161 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.391G>C (p.Gly131Arg) SNV Uncertain significance 552696 rs1554354367 7:107312669-107312669 7:107672224-107672224 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.400A>G (p.Arg134Gly) SNV Uncertain significance 554308 rs751256128 7:107312678-107312678 7:107672233-107672233 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2110G>A (p.Glu704Lys) SNV Uncertain significance 557592 rs147733656 7:107350519-107350519 7:107710074-107710074 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2205T>G (p.Ser735=) SNV Uncertain significance 551589 rs1387758666 7:107350614-107350614 7:107710169-107710169 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2320-2A>G SNV Uncertain significance 553509 rs1275029034 7:107355866-107355866 7:107715421-107715421 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.165-3C>G SNV Uncertain significance 551949 rs1436250461 7:107303738-107303738 7:107663293-107663293 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.919-18T>G SNV Uncertain significance 555347 rs767147359 7:107323882-107323882 7:107683437-107683437 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.481T>A (p.Phe161Ile) SNV Uncertain significance 550516 rs1481765326 7:107314674-107314674 7:107674229-107674229 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe) SNV Uncertain significance 556671 rs760040670 7:107314749-107314749 7:107674304-107674304 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.53_58del (p.Cys18_Ser19del) deletion Uncertain significance 557202 rs1554352212 7:107302134-107302139 7:107661689-107661694 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.445G>A (p.Gly149Arg) SNV Uncertain significance 556439 rs761210511 7:107314638-107314638 7:107674193-107674193 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.415+5_415+10del deletion Uncertain significance 558397 rs766751379 7:107312695-107312700 7:107672250-107672255 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.487G>A (p.Val163Ile) SNV Uncertain significance 550607 rs200229408 7:107314680-107314680 7:107674235-107674235 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1448T>A (p.Val483Glu) SNV Uncertain significance 691515 7:107336388-107336388 7:107695943-107695943 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*351G>A SNV Uncertain significance 912066 7:107356242-107356242 7:107715797-107715797 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2263del (p.Thr755fs) deletion Uncertain significance 556955 rs1554363275 7:107353011-107353011 7:107712566-107712566 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2320-1G>A SNV Uncertain significance 557055 rs1554363892 7:107355867-107355867 7:107715422-107715422 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.929C>T (p.Ala310Val) SNV Uncertain significance 558589 rs540008835 7:107323910-107323910 7:107683465-107683465 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2170G>A (p.Asp724Asn) SNV Uncertain significance 553188 rs994170964 7:107350579-107350579 7:107710134-107710134 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*1466T>A SNV Uncertain significance 912132 7:107357357-107357357 7:107716912-107716912 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*1558T>C SNV Uncertain significance 908118 7:107357449-107357449 7:107717004-107717004 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*1563C>A SNV Uncertain significance 908119 7:107357454-107357454 7:107717009-107717009 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*1672G>A SNV Uncertain significance 910066 7:107357563-107357563 7:107717118-107717118 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*1682C>T SNV Uncertain significance 910067 7:107357573-107357573 7:107717128-107717128 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*1700A>T SNV Uncertain significance 910068 7:107357591-107357591 7:107717146-107717146 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*1735C>T SNV Uncertain significance 910069 7:107357626-107357626 7:107717181-107717181 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*1789G>A SNV Uncertain significance 910950 7:107357680-107357680 7:107717235-107717235 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*1836C>T SNV Uncertain significance 910951 7:107357727-107357727 7:107717282-107717282 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*1868C>G SNV Uncertain significance 910952 7:107357759-107357759 7:107717314-107717314 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*1905G>A SNV Uncertain significance 912194 7:107357796-107357796 7:107717351-107717351 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*1945G>A SNV Uncertain significance 912195 7:107357836-107357836 7:107717391-107717391 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*1982C>A SNV Uncertain significance 908188 7:107357873-107357873 7:107717428-107717428 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*2065G>A SNV Uncertain significance 908189 7:107357956-107357956 7:107717511-107717511 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*2093T>G SNV Uncertain significance 908190 7:107357984-107357984 7:107717539-107717539 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*2237A>G SNV Uncertain significance 910135 7:107358128-107358128 7:107717683-107717683 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*2307A>G SNV Uncertain significance 910136 7:107358198-107358198 7:107717753-107717753 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2236-15G>A SNV Uncertain significance 912007 7:107352969-107352969 7:107712524-107712524 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2236-6T>C SNV Uncertain significance 912008 7:107352978-107352978 7:107712533-107712533 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1438-7del deletion Uncertain significance 552885 rs753586849 7:107336365-107336365 7:107695920-107695920 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1472T>C (p.Ile491Thr) SNV Uncertain significance 555073 rs751744677 7:107336412-107336412 7:107695967-107695967 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1489G>C (p.Gly497Arg) SNV Uncertain significance 550792 rs111033308 7:107336429-107336429 7:107695984-107695984 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1589A>C (p.Tyr530Ser) SNV Uncertain significance 557139 rs747636919 7:107338531-107338531 7:107698086-107698086 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1958T>C (p.Val653Ala) SNV Uncertain significance 556316 rs1554361015 7:107342426-107342426 7:107701981-107701981 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2005G>A (p.Asp669Asn) SNV Uncertain significance 554553 rs777641484 7:107342473-107342473 7:107702028-107702028 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2009T>C (p.Val670Ala) SNV Uncertain significance 558599 rs200712253 7:107342477-107342477 7:107702032-107702032 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2034G>A (p.Val678=) SNV Uncertain significance 557133 rs1048663788 7:107342502-107342502 7:107702057-107702057 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.665G>C (p.Gly222Ala) SNV Uncertain significance 558506 rs1434359940 7:107315454-107315454 7:107675009-107675009 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1438-7dup duplication Uncertain significance 555750 rs753586849 7:107336364-107336365 7:107695919-107695920 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1437+2dup duplication Uncertain significance 553757 rs1554359702 7:107335162-107335163 7:107694717-107694718 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.501_502insCAA (p.Gly168_Thr169insGln) insertion Uncertain significance 552900 rs758521444 7:107314694-107314695 7:107674249-107674250 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1341+3A>C SNV Uncertain significance 550280 rs1216900843 7:107334928-107334928 7:107694483-107694483 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1195T>C (p.Ser399Pro) SNV Uncertain significance 554065 rs747431002 7:107330614-107330614 7:107690169-107690169 PND002 Pendred Syndrome SLC26A4 NC_000007.14:g.107660819C>T SNV Uncertain significance 910617 7:107301264-107301264 7:107660819-107660819 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.190G>A (p.Val64Met) SNV Uncertain significance 911848 7:107303766-107303766 7:107663321-107663321 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.278G>A (p.Ser93Asn) SNV Uncertain significance 908903 7:107303854-107303854 7:107663409-107663409 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.310G>A (p.Ala104Thr) SNV Uncertain significance 908904 7:107312588-107312588 7:107672143-107672143 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.364T>C (p.Phe122Leu) SNV Uncertain significance 908905 7:107312642-107312642 7:107672197-107672197 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.540T>G (p.Ala180=) SNV Uncertain significance 909771 7:107314733-107314733 7:107674288-107674288 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.678T>C (p.Ala226=) SNV Uncertain significance 910666 7:107315467-107315467 7:107675022-107675022 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2078C>T (p.Ala693Val) SNV Uncertain significance 909894 7:107344819-107344819 7:107704374-107704374 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2119G>A (p.Gly707Arg) SNV Uncertain significance 910782 7:107350528-107350528 7:107710083-107710083 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*16G>T SNV Uncertain significance 909093 7:107355907-107355907 7:107715462-107715462 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*36C>T SNV Uncertain significance 909094 7:107355927-107355927 7:107715482-107715482 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*120G>A SNV Uncertain significance 909947 7:107356011-107356011 7:107715566-107715566 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*200A>T SNV Uncertain significance 909948 7:107356091-107356091 7:107715646-107715646 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*201C>A SNV Uncertain significance 910830 7:107356092-107356092 7:107715647-107715647 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*202G>A SNV Uncertain significance 910831 7:107356093-107356093 7:107715648-107715648 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*397T>C SNV Uncertain significance 908056 7:107356288-107356288 7:107715843-107715843 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*1068T>C SNV Uncertain significance 910885 7:107356959-107356959 7:107716514-107716514 PND002 Pendred Syndrome FOXI1 NM_012188.5(FOXI1):c.773G>A (p.Gly258Glu) SNV Uncertain significance 8449 rs121909340 5:169535251-169535251 5:170108247-170108247 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.-103T>C SNV Uncertain significance 4838 rs60284988 7:107301201-107301201 7:107660756-107660756 PND002 Pendred Syndrome SLC26A4 NM_000441.1(SLC26A4):c.-189A>T SNV Uncertain significance 43485 rs111033440 7:107301115-107301115 7:107660670-107660670 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1234G>A (p.Val412Ile) SNV Uncertain significance 43499 rs111033527 7:107330653-107330653 7:107690208-107690208 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1308_1313del (p.Ala437_Leu438del) deletion Uncertain significance 43503 rs111033207 7:107334890-107334895 7:107694445-107694450 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu) SNV Uncertain significance 43529 rs199588131 7:107342451-107342451 7:107702006-107702006 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2059G>T (p.Asp687Tyr) SNV Uncertain significance 43535 rs35548413 7:107344800-107344800 7:107704355-107704355 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2131G>A (p.Asp711Asn) SNV Uncertain significance 43539 rs145805875 7:107350540-107350540 7:107710095-107710095 PND002 Pendred Syndrome SLC26A4 NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr) SNV Uncertain significance 43550 rs200102493 7:107302114-107302114 7:107661669-107661669 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val) SNV Uncertain significance 43545 rs111033310 7:107350628-107350628 7:107710183-107710183 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met) SNV Uncertain significance 43546 rs150597240 7:107353039-107353039 7:107712594-107712594 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro) SNV Uncertain significance 43527 rs397516423 7:107342392-107342392 7:107701947-107701947 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) SNV Uncertain significance 43541 rs397516427 7:107350554-107350554 7:107710109-107710109 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu) SNV Uncertain significance 43564 rs397516431 7:107315486-107315486 7:107675041-107675041 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.545A>T (p.Asp182Val) SNV Uncertain significance 43559 rs111033365 7:107314738-107314738 7:107674293-107674293 PND002 Pendred Syndrome FOXI1 NM_012188.5(FOXI1):c.442C>G (p.Gln148Glu) SNV Uncertain significance 290061 rs553561553 5:169533403-169533403 5:170106399-170106399 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*3617A>T SNV Uncertain significance 293071 rs754184905 1:160007566-160007566 1:160037776-160037776 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*3170G>A SNV Uncertain significance 293074 rs886045395 1:160008013-160008013 1:160038223-160038223 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*3104T>A SNV Uncertain significance 293075 rs376496371 1:160008079-160008079 1:160038289-160038289 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*3023T>C SNV Uncertain significance 293077 rs886045396 1:160008160-160008160 1:160038370-160038370 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*2373C>T SNV Uncertain significance 293089 rs117037263 1:160008810-160008810 1:160039020-160039020 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.652C>T (p.Leu218Phe) SNV Uncertain significance 205829 rs558502886 1:160011671-160011671 1:160041881-160041881 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu) SNV Uncertain significance 199023 rs150946659 7:107329536-107329536 7:107689091-107689091 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.1043G>A (p.Arg348His) SNV Uncertain significance 205823 rs146396982 1:160011280-160011280 1:160041490-160041490 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp) SNV Uncertain significance 179690 rs397516426 7:107342497-107342497 7:107702052-107702052 PND002 Pendred Syndrome FOXI1 NM_012188.5(FOXI1):c.*418T>C SNV Uncertain significance 352716 rs886060402 5:169536033-169536033 5:170109029-170109029 PND002 Pendred Syndrome FOXI1 NM_012188.5(FOXI1):c.*397A>T SNV Uncertain significance 352715 rs886060401 5:169536012-169536012 5:170109008-170109008 PND002 Pendred Syndrome FOXI1 NM_012188.5(FOXI1):c.*486C>T SNV Uncertain significance 352718 rs886060403 5:169536101-169536101 5:170109097-170109097 PND002 Pendred Syndrome FOXI1 NM_012188.5(FOXI1):c.30C>T (p.Ser10=) SNV Uncertain significance 352701 rs137901435 5:169532991-169532991 5:170105987-170105987 PND002 Pendred Syndrome FOXI1 NM_012188.5(FOXI1):c.-18G>A SNV Uncertain significance 352700 rs764490860 5:169532944-169532944 5:170105940-170105940 PND002 Pendred Syndrome FOXI1 NM_012188.5(FOXI1):c.*707C>T SNV Uncertain significance 352721 rs886060404 5:169536322-169536322 5:170109318-170109318 PND002 Pendred Syndrome SLC26A4 NM_000441.1(SLC26A4):c.-139C>T SNV Uncertain significance 358492 rs879914861 7:107301165-107301165 7:107660720-107660720 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2008G>A (p.Val670Ile) SNV Uncertain significance 358501 rs201689637 7:107342476-107342476 7:107702031-107702031 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*523A>G SNV Uncertain significance 358509 rs560536749 7:107356414-107356414 7:107715969-107715969 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*1123A>G SNV Uncertain significance 358517 rs141341508 7:107357014-107357014 7:107716569-107716569 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*1200G>A SNV Uncertain significance 358518 rs549659217 7:107357091-107357091 7:107716646-107716646 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*1875G>C SNV Uncertain significance 358525 rs886061892 7:107357766-107357766 7:107717321-107717321 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*1960T>A SNV Uncertain significance 358526 rs886061893 7:107357851-107357851 7:107717406-107717406 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*2047A>G SNV Uncertain significance 358527 rs534409544 7:107357938-107357938 7:107717493-107717493 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*2250_*2251del deletion Uncertain significance 358529 rs886061895 7:107358140-107358141 7:107717695-107717696 PND002 Pendred Syndrome FOXI1 NM_012188.5(FOXI1):c.965_967del (p.Phe322del) deletion Uncertain significance 352709 rs886060400 5:169535441-169535443 5:170108437-170108439 PND002 Pendred Syndrome FOXI1 NM_012188.5(FOXI1):c.1088G>T (p.Ser363Ile) SNV Uncertain significance 352712 rs150705492 5:169535566-169535566 5:170108562-170108562 PND002 Pendred Syndrome FOXI1 NM_012188.5(FOXI1):c.568G>C (p.Asp190His) SNV Uncertain significance 352705 rs886060398 5:169533529-169533529 5:170106525-170106525 PND002 Pendred Syndrome FOXI1 NM_012188.5(FOXI1):c.861C>G (p.Ala287=) SNV Uncertain significance 352707 rs145785746 5:169535339-169535339 5:170108335-170108335 PND002 Pendred Syndrome FOXI1 NM_012188.5(FOXI1):c.938G>A (p.Gly313Glu) SNV Uncertain significance 352708 rs886060399 5:169535416-169535416 5:170108412-170108412 PND002 Pendred Syndrome FOXI1 NM_012188.5(FOXI1):c.1013C>T (p.Ala338Val) SNV Uncertain significance 352711 rs367809742 5:169535491-169535491 5:170108487-170108487 PND002 Pendred Syndrome FOXI1 NM_012188.5(FOXI1):c.*176G>T SNV Uncertain significance 352714 rs151161274 5:169535791-169535791 5:170108787-170108787 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*1970_*1971GT[22] short repeat Uncertain significance 293097 rs56656397 1:160009164-160009169 1:160039374-160039379 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*1855T>C SNV Uncertain significance 293098 rs886045405 1:160009328-160009328 1:160039538-160039538 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*1827T>C SNV Uncertain significance 293100 rs886045406 1:160009356-160009356 1:160039566-160039566 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*1165G>A SNV Uncertain significance 293105 rs886045408 1:160010018-160010018 1:160040228-160040228 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*362A>T SNV Uncertain significance 293112 rs528816212 1:160010821-160010821 1:160041031-160041031 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.1123C>T (p.Arg375Cys) SNV Uncertain significance 293118 rs751338154 1:160011200-160011200 1:160041410-160041410 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*2827C>T SNV Uncertain significance 293079 rs183270733 1:160008356-160008356 1:160038566-160038566 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*2649G>A SNV Uncertain significance 293081 rs886045399 1:160008534-160008534 1:160038744-160038744 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*2530G>C SNV Uncertain significance 293083 rs886045400 1:160008653-160008653 1:160038863-160038863 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*2520C>T SNV Uncertain significance 293084 rs886045401 1:160008663-160008663 1:160038873-160038873 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*2479G>A SNV Uncertain significance 293086 rs142986779 1:160008704-160008704 1:160038914-160038914 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*2459T>G SNV Uncertain significance 293087 rs532869749 1:160008724-160008724 1:160038934-160038934 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*1970_*1971GT[27] short repeat Uncertain significance 293092 rs56656397 1:160009163-160009164 1:160039373-160039374 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*1788C>T SNV Uncertain significance 293101 rs550315680 1:160009395-160009395 1:160039605-160039605 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*734C>T SNV Uncertain significance 293109 rs778432509 1:160010449-160010449 1:160040659-160040659 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*680T>G SNV Uncertain significance 293111 rs886045411 1:160010503-160010503 1:160040713-160040713 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*171C>T SNV Uncertain significance 293114 rs539110996 1:160011012-160011012 1:160041222-160041222 PND002 Pendred Syndrome KCNJ10 NM_002241.4(KCNJ10):c.-183C>T SNV Uncertain significance 293122 rs374287142 1:160039994-160039994 1:160070204-160070204 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*1970_*1971GT[28] short repeat Uncertain significance 293093 rs56656397 1:160009163-160009164 1:160039373-160039374 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*1970_*1971GT[21] short repeat Uncertain significance 293096 rs56656397 1:160009164-160009171 1:160039374-160039381 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*1435C>T SNV Uncertain significance 293104 rs150657925 1:160009748-160009748 1:160039958-160039958 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*991A>G SNV Uncertain significance 293107 rs187278337 1:160010192-160010192 1:160040402-160040402 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*73C>T SNV Uncertain significance 293115 rs184428585 1:160011110-160011110 1:160041320-160041320 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*52G>A SNV Uncertain significance 293116 rs148441646 1:160011131-160011131 1:160041341-160041341 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*21A>G SNV Uncertain significance 293117 rs377019389 1:160011162-160011162 1:160041372-160041372 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.405C>T (p.Tyr135=) SNV Uncertain significance 293119 rs765590257 1:160011918-160011918 1:160042128-160042128 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.296T>C (p.Leu99Pro) SNV Uncertain significance 293120 rs540341763 1:160012027-160012027 1:160042237-160042237 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*3770C>T SNV Uncertain significance 293070 rs886045394 1:160007413-160007413 1:160037623-160037623 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*3074C>T SNV Uncertain significance 293076 rs181875026 1:160008109-160008109 1:160038319-160038319 PND002 Pendred Syndrome FOXI1 NM_012188.5(FOXI1):c.997G>A (p.Gly333Ser) SNV Uncertain significance 286747 rs145046338 5:169535475-169535475 5:170108471-170108471 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1909C>A (p.Gln637Lys) SNV Uncertain significance 229255 rs375645779 7:107342377-107342377 7:107701932-107701932 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*1653T>C SNV Uncertain significance 293103 rs886045407 1:160009530-160009530 1:160039740-160039740 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*1161T>C SNV Uncertain significance 293106 rs149832483 1:160010022-160010022 1:160040232-160040232 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*783A>G SNV Uncertain significance 293108 rs886045409 1:160010400-160010400 1:160040610-160040610 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*729G>C SNV Uncertain significance 293110 rs886045410 1:160010454-160010454 1:160040664-160040664 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*237A>G SNV Uncertain significance 293113 rs886045412 1:160010946-160010946 1:160041156-160041156 PND002 Pendred Syndrome KCNJ10 NM_002241.4(KCNJ10):c.-168C>A SNV Uncertain significance 293121 rs886045413 1:160039979-160039979 1:160070189-160070189 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*3853G>C SNV Uncertain significance 293068 rs138599071 1:160007330-160007330 1:160037540-160037540 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*3840T>C SNV Uncertain significance 293069 rs886045393 1:160007343-160007343 1:160037553-160037553 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*3180G>C SNV Uncertain significance 293073 rs758537153 1:160008003-160008003 1:160038213-160038213 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*2971G>A SNV Uncertain significance 293078 rs886045397 1:160008212-160008212 1:160038422-160038422 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*2675_*2676del deletion Uncertain significance 293080 rs886045398 1:160008507-160008508 1:160038717-160038718 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*840C>T SNV Uncertain significance 358514 rs886061889 7:107356731-107356731 7:107716286-107716286 PND002 Pendred Syndrome FOXI1 NM_012188.5(FOXI1):c.*576T>A SNV Uncertain significance 352720 rs550861326 5:169536191-169536191 5:170109187-170109187 PND002 Pendred Syndrome FOXI1 NM_012188.5(FOXI1):c.*986G>C SNV Uncertain significance 352723 rs111876035 5:169536601-169536601 5:170109597-170109597 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.-8G>A SNV Uncertain significance 358493 rs886061882 7:107301296-107301296 7:107660851-107660851 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.888C>T (p.Ile296=) SNV Uncertain significance 358498 rs765095794 7:107323769-107323769 7:107683324-107683324 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1110A>G (p.Val370=) SNV Uncertain significance 358500 rs886061886 7:107329606-107329606 7:107689161-107689161 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2320-4A>G SNV Uncertain significance 358504 rs727503432 7:107355864-107355864 7:107715419-107715419 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*1277A>G SNV Uncertain significance 358519 rs560359006 7:107357168-107357168 7:107716723-107716723 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*1517G>C SNV Uncertain significance 358520 rs2712205 7:107357408-107357408 7:107716963-107716963 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*1610C>T SNV Uncertain significance 358522 rs192222034 7:107357501-107357501 7:107717056-107717056 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*1640G>T SNV Uncertain significance 358523 rs886061891 7:107357531-107357531 7:107717086-107717086 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*2147G>A SNV Uncertain significance 358528 rs886061894 7:107358038-107358038 7:107717593-107717593 PND002 Pendred Syndrome SLC26A4 NM_000441.1(SLC26A4):c.-186A>G SNV Uncertain significance 358491 rs555307083 7:107301118-107301118 7:107660673-107660673 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.371T>A (p.Ile124Asn) SNV Uncertain significance 358494 rs886061883 7:107312649-107312649 7:107672204-107672204 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1068C>T (p.Ile356=) SNV Uncertain significance 358499 rs886061885 7:107329564-107329564 7:107689119-107689119 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*69C>A SNV Uncertain significance 358505 rs76894072 7:107355960-107355960 7:107715515-107715515 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*409A>T SNV Uncertain significance 358508 rs752578836 7:107356300-107356300 7:107715855-107715855 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*618A>G SNV Uncertain significance 358511 rs886061888 7:107356509-107356509 7:107716064-107716064 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*780T>C SNV Uncertain significance 358512 rs527503006 7:107356671-107356671 7:107716226-107716226 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*1059T>C SNV Uncertain significance 358516 rs183926745 7:107356950-107356950 7:107716505-107716505 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*1970_*1971GT[24] short repeat Uncertain significance 293094 rs56656397 1:160009164-160009165 1:160039374-160039375 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.872G>A (p.Arg291Gln) SNV Uncertain significance 358496 rs138816005 7:107323753-107323753 7:107683308-107683308 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.887T>A (p.Ile296Asn) SNV Uncertain significance 358497 rs886061884 7:107323768-107323768 7:107683323-107683323 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2018T>G (p.Val673Gly) SNV Uncertain significance 358502 rs886061887 7:107342486-107342486 7:107702041-107702041 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2135A>G (p.Asn712Ser) SNV Uncertain significance 358503 rs772522003 7:107350544-107350544 7:107710099-107710099 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*239C>T SNV Uncertain significance 358506 rs113516368 7:107356130-107356130 7:107715685-107715685 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*343C>A SNV Uncertain significance 358507 rs139104953 7:107356234-107356234 7:107715789-107715789 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*791A>G SNV Uncertain significance 358513 rs146458433 7:107356682-107356682 7:107716237-107716237 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*1584dup duplication Uncertain significance 358521 rs886061890 7:107357474-107357475 7:107717029-107717030 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*1970_*1971GT[23] short repeat Likely benign 293095 rs56656397 1:160009164-160009167 1:160039374-160039377 PND002 Pendred Syndrome FOXI1 NM_012188.5(FOXI1):c.*938dup duplication Likely benign 352722 rs3839285 5:169536545-169536546 5:170109541-170109542 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) SNV Likely benign 227949 rs756969021 7:107302233-107302233 7:107661788-107661788 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=) SNV Likely benign 43517 rs111033193 7:107338556-107338556 7:107698111-107698111 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1544+9C>G SNV Likely benign 553265 rs368970459 7:107336493-107336493 7:107696048-107696048 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1804-23T>C SNV Likely benign 550201 rs370827220 7:107342249-107342249 7:107701804-107701804 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1001+30A>G SNV Likely benign 550331 rs556184448 7:107324012-107324012 7:107683567-107683567 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.416-16G>T SNV Benign/Likely benign 445575 rs114992866 7:107314593-107314593 7:107674148-107674148 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) SNV Benign/Likely benign 43525 rs55638457 7:107341628-107341628 7:107701183-107701183 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) SNV Benign/Likely benign 43526 rs17154335 7:107342294-107342294 7:107701849-107701849 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met) SNV Benign/Likely benign 43540 rs143708308 7:107350548-107350548 7:107710103-107710103 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2130C>T (p.Asp710=) SNV Benign/Likely benign 43538 rs17154347 7:107350539-107350539 7:107710094-107710094 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1488C>T (p.Leu496=) SNV Benign/Likely benign 43509 rs77407094 7:107336428-107336428 7:107695983-107695983 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*11G>A SNV Benign/Likely benign 43484 rs113496951 7:107355902-107355902 7:107715457-107715457 PND002 Pendred Syndrome SLC26A4 NM_000441.1(SLC26A4):c.-66C>G SNV Benign/Likely benign 43487 rs17154282 7:107301238-107301238 7:107660793-107660793 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1002-9A>C SNV Benign/Likely benign 43489 rs10234822 7:107329489-107329489 7:107689044-107689044 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*1302T>G SNV Benign/Likely benign 912131 7:107357193-107357193 7:107716748-107716748 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*2062T>G SNV Benign/Likely benign 293090 rs1053074 1:160009121-160009121 1:160039331-160039331 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) SNV Benign/Likely benign 43544 rs17154353 7:107350627-107350627 7:107710182-107710182 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.849G>C (p.Met283Ile) SNV Benign/Likely benign 165247 rs146348818 7:107323730-107323730 7:107683285-107683285 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) SNV Benign/Likely benign 43574 rs36039758 7:107323951-107323951 7:107683506-107683506 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu) SNV Benign/Likely benign 43570 rs111033304 7:107323779-107323779 7:107683334-107683334 PND002 Pendred Syndrome FOXI1 NM_012188.5(FOXI1):c.*119C>A SNV Benign/Likely benign 352713 rs6873124 5:169535734-169535734 5:170108730-170108730 PND002 Pendred Syndrome FOXI1 NM_012188.5(FOXI1):c.279G>A (p.Arg93=) SNV Benign/Likely benign 352702 rs2277944 5:169533240-169533240 5:170106236-170106236 PND002 Pendred Syndrome FOXI1 NM_012188.5(FOXI1):c.*535A>G SNV Benign/Likely benign 352719 rs6555888 5:169536150-169536150 5:170109146-170109146 PND002 Pendred Syndrome FOXI1 NM_012188.5(FOXI1):c.*440G>A SNV Benign 352717 rs6555887 5:169536055-169536055 5:170109051-170109051 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*2040C>G SNV Benign 293091 rs2486254 1:160009143-160009143 1:160039353-160039353 PND002 Pendred Syndrome FOXI1 NM_012188.5(FOXI1):c.1044T>C (p.Tyr348=) SNV Benign 260212 rs10063424 5:169535522-169535522 5:170108518-170108518 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1708-18T>A SNV Benign 256155 rs55701254 7:107341528-107341528 7:107701083-107701083 PND002 Pendred Syndrome KCNJ10 NM_002241.5(KCNJ10):c.*1764T>G SNV Benign 293102 rs2486253 1:160009419-160009419 1:160039629-160039629 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*1797G>C SNV Benign 358524 rs76820337 7:107357688-107357688 7:107717243-107717243 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.*868G>A SNV Benign 358515 rs2712218 7:107356759-107356759 7:107716314-107716314 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.565G>T (p.Ala189Ser) SNV Benign 43560 rs35045430 7:107314758-107314758 7:107674313-107674313 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.416-7T>C SNV Benign 43558 rs111033387 7:107314602-107314602 7:107674157-107674157 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr) SNV Benign 43491 rs145467740 7:107329565-107329565 7:107689120-107689120 PND002 Pendred Syndrome SLC26A4 NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) SNV Benign 43507 rs375576481 7:107335087-107335087 7:107694642-107694642 PND002 Pendred Syndrome TNFRSF1A NM_001065.4(TNFRSF1A):c.185G>A (p.Cys62Tyr) SNV Pathogenic 12335 rs104895218 12:6443265-6443265 12:6334099-6334099 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.236C>T (p.Thr79Met) SNV Pathogenic 12336 rs104895219 12:6442989-6442989 12:6333823-6333823 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.175T>C (p.Cys59Arg) SNV Pathogenic 12337 rs104895217 12:6443275-6443275 12:6334109-6334109 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.242G>T (p.Cys81Phe) SNV Pathogenic 12338 rs104895220 12:6442983-6442983 12:6333817-6333817 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.349T>C (p.Cys117Arg) SNV Pathogenic 12339 rs104895221 12:6442656-6442656 12:6333490-6333490 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.350G>A (p.Cys117Tyr) SNV Pathogenic 12340 rs104895222 12:6442655-6442655 12:6333489-6333489 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.362G>C (p.Arg121Pro) SNV Pathogenic 12341 rs4149584 12:6442643-6442643 12:6333477-6333477 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.176G>C (p.Cys59Ser) SNV Pathogenic 12342 rs104895223 12:6443274-6443274 12:6334108-6334108 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A TNFRSF1A, 3-BP DEL, NT211 deletion Pathogenic 12344 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.295T>A (p.Cys99Ser) SNV Pathogenic 12345 rs104895228 12:6442930-6442930 12:6333764-6333764 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A TNFRSF1A, CYS55ALA undetermined variant Pathogenic 12346 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.3(TNFRSF1A):c.596T>A (p.Ile199Asn) SNV Pathogenic 97710 rs104895247 12:6440048-6440048 12:6330882-6330882 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.295T>C (p.Cys99Arg) SNV Pathogenic 97686 rs104895228 12:6442930-6442930 12:6333764-6333764 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.251G>A (p.Cys84Tyr) SNV Pathogenic 97673 rs104895224 12:6442974-6442974 12:6333808-6333808 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu) SNV Pathogenic/Likely pathogenic 97643 rs104895271 12:6443327-6443327 12:6334161-6334161 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.305G>A (p.Cys102Tyr) SNV Likely pathogenic 572070 rs1555108112 12:6442920-6442920 12:6333754-6333754 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.250T>C (p.Cys84Arg) SNV Likely pathogenic 97672 rs104895253 12:6442975-6442975 12:6333809-6333809 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.241T>C (p.Cys81Arg) SNV Likely pathogenic 97668 rs104895232 12:6442984-6442984 12:6333818-6333818 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.361C>T (p.Arg121Trp) SNV Likely pathogenic 97694 rs104895276 12:6442644-6442644 12:6333478-6333478 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.184T>G (p.Cys62Gly) SNV Likely pathogenic 12343 rs104895225 12:6443266-6443266 12:6334100-6334100 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.269C>T (p.Thr90Ile) SNV Conflicting interpretations of pathogenicity 532185 rs34751757 12:6442956-6442956 12:6333790-6333790 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.255G>C (p.Glu85Asp) SNV Conflicting interpretations of pathogenicity 566105 rs770439546 12:6442970-6442970 12:6333804-6333804 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.645C>T (p.Pro215=) SNV Conflicting interpretations of pathogenicity 137680 rs147075345 12:6439858-6439858 12:6330692-6330692 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) SNV Conflicting interpretations of pathogenicity 217017 rs4149584 12:6442643-6442643 12:6333477-6333477 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.1083C>T (p.Ala361=) SNV Conflicting interpretations of pathogenicity 756856 12:6438763-6438763 12:6329597-6329597 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.282C>G (p.Asn94Lys) SNV Conflicting interpretations of pathogenicity 234421 rs876661014 12:6442943-6442943 12:6333777-6333777 PRD013 Periodic Fever, Familial, Autosomal Dominant SCNN1A NM_001065.4(TNFRSF1A):c.-233C>T SNV Conflicting interpretations of pathogenicity 310116 rs45537340 12:6451213-6451213 12:6342047-6342047 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.-233C>T SNV Conflicting interpretations of pathogenicity 310116 rs45537340 12:6451213-6451213 12:6342047-6342047 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.1206C>T (p.Ser402=) SNV Conflicting interpretations of pathogenicity 310106 rs148334665 12:6438640-6438640 12:6329474-6329474 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.1110C>T (p.Arg370=) SNV Conflicting interpretations of pathogenicity 310107 rs201683984 12:6438736-6438736 12:6329570-6329570 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.3(TNFRSF1A):c.472+7G>T SNV Conflicting interpretations of pathogenicity 310112 rs200194581 12:6442526-6442526 12:6333360-6333360 PRD013 Periodic Fever, Familial, Autosomal Dominant SCNN1A NM_001065.4(TNFRSF1A):c.-74G>A SNV Conflicting interpretations of pathogenicity 310113 rs200084924 12:6451054-6451054 12:6341888-6341888 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.-74G>A SNV Conflicting interpretations of pathogenicity 310113 rs200084924 12:6451054-6451054 12:6341888-6341888 PRD013 Periodic Fever, Familial, Autosomal Dominant SCNN1A NM_001065.4(TNFRSF1A):c.-96C>T SNV Conflicting interpretations of pathogenicity 310114 rs115164694 12:6451076-6451076 12:6341910-6341910 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.-96C>T SNV Conflicting interpretations of pathogenicity 310114 rs115164694 12:6451076-6451076 12:6341910-6341910 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.935G>A (p.Arg312Lys) SNV Conflicting interpretations of pathogenicity 378735 rs200900510 12:6439066-6439066 12:6329900-6329900 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.988G>A (p.Ala330Thr) SNV Conflicting interpretations of pathogenicity 378736 rs200029309 12:6439013-6439013 12:6329847-6329847 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.265T>C (p.Phe89Leu) SNV Conflicting interpretations of pathogenicity 97676 rs104895245 12:6442960-6442960 12:6333794-6333794 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.369C>T (p.Thr123=) SNV Conflicting interpretations of pathogenicity 97695 rs104895260 12:6442636-6442636 12:6333470-6333470 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.370G>A (p.Val124Met) SNV Uncertain significance 97696 rs104895278 12:6442635-6442635 12:6333469-6333469 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.3(TNFRSF1A):c.472+6C>T SNV Uncertain significance 97705 rs104895277 12:6442527-6442527 12:6333361-6333361 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.228G>A (p.Gly76=) SNV Uncertain significance 97666 rs104895274 12:6442997-6442997 12:6333831-6333831 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.249G>A (p.Glu83=) SNV Uncertain significance 97671 rs104895265 12:6442976-6442976 12:6333810-6333810 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.243C>G (p.Cys81Trp) SNV Uncertain significance 97670 rs56002980 12:6442982-6442982 12:6333816-6333816 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.3(TNFRSF1A):c.194-14G>A SNV Uncertain significance 97654 rs104895241 12:6443045-6443045 12:6333879-6333879 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.176G>A (p.Cys59Tyr) SNV Uncertain significance 97652 rs104895223 12:6443274-6443274 12:6334108-6334108 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.532G>A (p.Glu178Lys) SNV Uncertain significance 310111 rs538872981 12:6442254-6442254 12:6333088-6333088 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.*357_*361GTTTT[5] short repeat Uncertain significance 310097 rs554776242 12:6438101-6438102 12:6328935-6328936 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.*38C>T SNV Uncertain significance 310104 rs200297634 12:6438440-6438440 12:6329274-6329274 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.434A>G (p.Asn145Ser) SNV Uncertain significance 97703 rs104895288 12:6442571-6442571 12:6333405-6333405 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.287T>C (p.Leu96Pro) SNV Uncertain significance 97684 rs104895235 12:6442938-6442938 12:6333772-6333772 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.753G>A (p.Ser251=) SNV Uncertain significance 310110 rs201358363 12:6439448-6439448 12:6330282-6330282 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.-162T>C SNV Uncertain significance 310115 rs886049751 12:6451142-6451142 12:6341976-6341976 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.3(TNFRSF1A):c.1058-8C>G SNV Uncertain significance 310108 rs764636915 12:6438796-6438796 12:6329630-6329630 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.*394A>T SNV Uncertain significance 310095 rs150426904 12:6438084-6438084 12:6328918-6328918 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.*357_*361GTTTT[3] short repeat Uncertain significance 310098 rs554776242 12:6438102-6438106 12:6328936-6328940 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.*374T>G SNV Uncertain significance 310099 rs200167144 12:6438104-6438104 12:6328938-6328938 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.*178C>T SNV Uncertain significance 310102 rs186356476 12:6438300-6438300 12:6329134-6329134 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.*148C>T SNV Uncertain significance 310103 rs543718521 12:6438330-6438330 12:6329164-6329164 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.1356T>A (p.Ser452Arg) SNV Uncertain significance 310105 rs886049750 12:6438490-6438490 12:6329324-6329324 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.823C>T (p.Pro275Ser) SNV Uncertain significance 310109 rs758118907 12:6439178-6439178 12:6330012-6330012 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.3(TNFRSF1A):c.1058-6C>G SNV Uncertain significance 234742 rs761155688 12:6438794-6438794 12:6329628-6329628 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.3(TNFRSF1A):c.596T>C (p.Ile199Thr) SNV Uncertain significance 234423 rs104895247 12:6440048-6440048 12:6330882-6330882 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.334G>A (p.Val112Met) SNV Uncertain significance 234422 rs201753543 12:6442671-6442671 12:6333505-6333505 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.3(TNFRSF1A):c.1058-9T>G SNV Uncertain significance 658965 12:6438797-6438797 12:6329631-6329631 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.315C>G (p.Cys105Trp) SNV Uncertain significance 572270 rs1565468122 12:6442910-6442910 12:6333744-6333744 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.452A>G (p.Asn151Ser) SNV Uncertain significance 580019 rs369875050 12:6442553-6442553 12:6333387-6333387 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.887G>C (p.Ser296Thr) SNV Uncertain significance 546693 rs770324989 12:6439114-6439114 12:6329948-6329948 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.1328G>T (p.Gly443Val) SNV Uncertain significance 450261 rs201062001 12:6438518-6438518 12:6329352-6329352 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.3(TNFRSF1A):c.323-3C>G SNV Uncertain significance 463376 rs1328399119 12:6442685-6442685 12:6333519-6333519 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.650T>C (p.Val217Ala) SNV Uncertain significance 523630 rs1555107565 12:6439853-6439853 12:6330687-6330687 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.455G>C (p.Gly152Ala) SNV Uncertain significance 532186 rs762635729 12:6442550-6442550 12:6333384-6333384 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.1038C>G (p.His346Gln) SNV Uncertain significance 811189 12:6438963-6438963 12:6329797-6329797 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.482A>G (p.Lys161Arg) SNV Uncertain significance 811764 12:6442304-6442304 12:6333138-6333138 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.*297G>A SNV Uncertain significance 883005 12:6438181-6438181 12:6329015-6329015 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.*263C>T SNV Uncertain significance 883006 12:6438215-6438215 12:6329049-6329049 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.*252A>G SNV Uncertain significance 883007 12:6438226-6438226 12:6329060-6329060 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.*195G>A SNV Uncertain significance 883008 12:6438283-6438283 12:6329117-6329117 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.*64T>C SNV Uncertain significance 883795 12:6438414-6438414 12:6329248-6329248 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.756A>G (p.Thr252=) SNV Uncertain significance 881464 12:6439445-6439445 12:6330279-6330279 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.492C>T (p.Thr164=) SNV Uncertain significance 881905 12:6442294-6442294 12:6333128-6333128 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.460G>A (p.Val154Met) SNV Uncertain significance 881907 12:6442545-6442545 12:6333379-6333379 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.-62C>A SNV Uncertain significance 883079 12:6451042-6451042 12:6341876-6341876 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.-75C>T SNV Uncertain significance 883080 12:6451055-6451055 12:6341889-6341889 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.-82C>T SNV Uncertain significance 883081 12:6451062-6451062 12:6341896-6341896 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.472+6C>A SNV Uncertain significance 881906 12:6442527-6442527 12:6333361-6333361 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.1256A>G (p.Glu419Gly) SNV Uncertain significance 569017 rs1454639907 12:6438590-6438590 12:6329424-6329424 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.268A>C (p.Thr90Pro) SNV Uncertain significance 851841 12:6442957-6442957 12:6333791-6333791 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.271G>A (p.Ala91Thr) SNV Uncertain significance 856102 12:6442954-6442954 12:6333788-6333788 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.280A>T (p.Asn94Tyr) SNV Uncertain significance 846222 12:6442945-6442945 12:6333779-6333779 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.428G>C (p.Cys143Ser) SNV Uncertain significance 848743 12:6442577-6442577 12:6333411-6333411 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.506A>G (p.His169Arg) SNV Uncertain significance 839645 12:6442280-6442280 12:6333114-6333114 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.757C>G (p.Pro253Ala) SNV Uncertain significance 837471 12:6439444-6439444 12:6330278-6330278 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.811C>T (p.Pro271Ser) SNV Uncertain significance 844079 12:6439190-6439190 12:6330024-6330024 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.997C>T (p.Pro333Ser) SNV Uncertain significance 856927 12:6439004-6439004 12:6329838-6329838 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.1004C>A (p.Pro335His) SNV Uncertain significance 837685 12:6438997-6438997 12:6329831-6329831 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.1008C>A (p.Asn336Lys) SNV Uncertain significance 843562 12:6438993-6438993 12:6329827-6329827 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.1225C>T (p.Arg409Trp) SNV Uncertain significance 845004 12:6438621-6438621 12:6329455-6329455 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.1292T>C (p.Leu431Pro) SNV Uncertain significance 839449 12:6438554-6438554 12:6329388-6329388 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.95C>G (p.Pro32Arg) SNV Uncertain significance 643170 12:6443355-6443355 12:6334189-6334189 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.382A>G (p.Arg128Gly) SNV Uncertain significance 649500 12:6442623-6442623 12:6333457-6333457 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.811C>G (p.Pro271Ala) SNV Uncertain significance 655770 12:6439190-6439190 12:6330024-6330024 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.1115A>C (p.Lys372Thr) SNV Uncertain significance 652548 12:6438731-6438731 12:6329565-6329565 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.1354A>T (p.Ser452Cys) SNV Uncertain significance 657575 12:6438492-6438492 12:6329326-6329326 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.123T>C (p.Asp41=) SNV Likely benign 532188 rs104895271 12:6443327-6443327 12:6334161-6334161 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.3(TNFRSF1A):c.1058-4G>A SNV Likely benign 246439 rs369451569 12:6438792-6438792 12:6329626-6329626 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.1018A>G (p.Lys340Glu) SNV Likely benign 567867 rs778653907 12:6438983-6438983 12:6329817-6329817 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.60G>A (p.Val20=) SNV Likely benign 532187 rs778929455 12:6443390-6443390 12:6334224-6334224 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.193+6G>A SNV Likely benign 706008 12:6443251-6443251 12:6334085-6334085 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.960G>A (p.Gly320=) SNV Likely benign 789536 12:6439041-6439041 12:6329875-6329875 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.1233G>A (p.Thr411=) SNV Likely benign 724747 12:6438613-6438613 12:6329447-6329447 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.672T>C (p.Leu224=) SNV Likely benign 744904 12:6439831-6439831 12:6330665-6330665 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.1323T>C (p.Leu441=) SNV Likely benign 757984 12:6438523-6438523 12:6329357-6329357 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.1257G>A (p.Glu419=) SNV Likely benign 797869 12:6438589-6438589 12:6329423-6329423 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.*387A>G SNV Likely benign 310096 rs115682467 12:6438091-6438091 12:6328925-6328925 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.3(TNFRSF1A):c.473-16G>A SNV Likely benign 97706 rs104895251 12:6442329-6442329 12:6333163-6333163 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.3(TNFRSF1A):c.558G>A (p.Lys186=) SNV Likely benign 97708 rs104895275 12:6440086-6440086 12:6330920-6330920 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.*350dup duplication Likely benign 310100 rs201099296 12:6438127-6438128 12:6328961-6328962 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.168G>A (p.Ser56=) SNV Likely benign 97649 rs104895280 12:6443282-6443282 12:6334116-6334116 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.194-18_194-17del short repeat Likely benign 97656 rs104895267 12:6443048-6443049 12:6333882-6333883 PRD013 Periodic Fever, Familial, Autosomal Dominant SCNN1A NM_001038.6(SCNN1A):c.*1012_*1015TGTT[1] short repeat Benign/Likely benign 310117 rs796798913 12:6456020-6456023 12:6346854-6346857 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001038.6(SCNN1A):c.*1012_*1015TGTT[1] short repeat Benign/Likely benign 310117 rs796798913 12:6456020-6456023 12:6346854-6346857 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.3(TNFRSF1A):c.769-3C>T SNV Benign/Likely benign 137681 rs199743143 12:6439235-6439235 12:6330069-6330069 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.224C>T (p.Pro75Leu) SNV Benign/Likely benign 245671 rs4149637 12:6443001-6443001 12:6333835-6333835 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.987C>T (p.Leu329=) SNV Benign 245672 rs138261783 12:6439014-6439014 12:6329848-6329848 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.816C>T (p.Ser272=) SNV Benign 757749 12:6439185-6439185 12:6330019-6330019 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.1075C>T (p.Leu359=) SNV Benign 97422 rs151344628 12:6438771-6438771 12:6329605-6329605 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.625+10A>G SNV Benign 37038 rs1800693 12:6440009-6440009 12:6330843-6330843 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.3(TNFRSF1A):c.740-9T>C SNV Benign 257327 rs12426675 12:6439470-6439470 12:6330304-6330304 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.36A>G (p.Pro12=) SNV Benign 257326 rs767455 12:6450945-6450945 12:6341779-6341779 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.714G>A (p.Arg238=) SNV Benign 712944 12:6439789-6439789 12:6330623-6330623 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.626-32G>T SNV Benign 701893 12:6439909-6439909 12:6330743-6330743 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.*333G>A SNV Benign 310101 rs4149646 12:6438145-6438145 12:6328979-6328979 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.3(TNFRSF1A):c.586_612del (p.Leu196_Gly204del) deletion not provided 97709 rs104895272 12:6440032-6440058 12:6330866-6330892 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.3(TNFRSF1A):c.552-89A>T SNV not provided 97707 rs104895264 12:6440181-6440181 12:6331015-6331015 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.421T>A (p.Phe141Ile) SNV not provided 97702 rs104895233 12:6442584-6442584 12:6333418-6333418 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.413A>C (p.Glu138Ala) SNV not provided 97701 rs104895286 12:6442592-6442592 12:6333426-6333426 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.401A>C (p.His134Pro) SNV not provided 97700 rs104895284 12:6442604-6442604 12:6333438-6333438 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.398G>A (p.Arg133Gln) SNV not provided 97699 rs104895257 12:6442607-6442607 12:6333441-6333441 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.380G>A (p.Cys127Tyr) SNV not provided 97698 rs104895242 12:6442625-6442625 12:6333459-6333459 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.374G>A (p.Cys125Tyr) SNV not provided 97697 rs104895234 12:6442631-6442631 12:6333465-6333465 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.284A>T (p.His95Leu) SNV not provided 97683 rs104895294 12:6442941-6442941 12:6333775-6333775 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.283C>T (p.His95Tyr) SNV not provided 97682 rs104895290 12:6442942-6442942 12:6333776-6333776 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.281A>T (p.Asn94Ile) SNV not provided 97681 rs104895244 12:6442944-6442944 12:6333778-6333778 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.269C>A (p.Thr90Asn) SNV not provided 97680 rs34751757 12:6442956-6442956 12:6333790-6333790 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.267C>A (p.Phe89Leu) SNV not provided 97679 rs104895266 12:6442958-6442958 12:6333792-6333792 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.266T>C (p.Phe89Ser) SNV not provided 97678 rs104895279 12:6442959-6442959 12:6333793-6333793 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.265T>G (p.Phe89Val) SNV not provided 97677 rs104895245 12:6442960-6442960 12:6333794-6333794 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.343T>C (p.Ser115Pro) SNV not provided 97693 rs104895226 12:6442662-6442662 12:6333496-6333496 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.3(TNFRSF1A):c.323-32A>G SNV not provided 97692 rs104895281 12:6442714-6442714 12:6333548-6333548 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.308C>G (p.Ser103Cys) SNV not provided 97691 rs104895283 12:6442917-6442917 12:6333751-6333751 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.306C>G (p.Cys102Trp) SNV not provided 97690 rs104895249 12:6442919-6442919 12:6333753-6333753 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.304T>C (p.Cys102Arg) SNV not provided 97689 rs104895236 12:6442921-6442921 12:6333755-6333755 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.296G>A (p.Cys99Tyr) SNV not provided 97688 rs104895231 12:6442929-6442929 12:6333763-6333763 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.295T>G (p.Cys99Gly) SNV not provided 97687 rs104895228 12:6442930-6442930 12:6333764-6333764 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.3(TNFRSF1A):c.194-15C>T SNV not provided 97655 rs104895259 12:6443046-6443046 12:6333880-6333880 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.236C>A (p.Thr79Lys) SNV not provided 97667 rs104895219 12:6442989-6442989 12:6333823-6333823 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.242G>A (p.Cys81Tyr) SNV not provided 97669 rs104895220 12:6442983-6442983 12:6333817-6333817 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.153C>G (p.His51Gln) SNV not provided 97648 rs104895254 12:6443297-6443297 12:6334131-6334131 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.152A>G (p.His51Arg) SNV not provided 97647 rs104895289 12:6443298-6443298 12:6334132-6334132 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.151C>T (p.His51Tyr) SNV not provided 97646 rs104895227 12:6443299-6443299 12:6334133-6334133 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.145T>G (p.Tyr49Asp) SNV not provided 97645 rs104895237 12:6443305-6443305 12:6334139-6334139 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.145T>C (p.Tyr49His) SNV not provided 97644 rs104895237 12:6443305-6443305 12:6334139-6334139 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.173G>T (p.Cys58Phe) SNV not provided 97651 rs104895230 12:6443277-6443277 12:6334111-6334111 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.173G>A (p.Cys58Tyr) SNV not provided 97650 rs104895230 12:6443277-6443277 12:6334111-6334111 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.176G>T (p.Cys59Phe) SNV not provided 97653 rs104895223 12:6443274-6443274 12:6334108-6334108 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.215G>C (p.Cys72Ser) SNV not provided 97665 rs104895252 12:6443010-6443010 12:6333844-6333844 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.215G>A (p.Cys72Tyr) SNV not provided 97664 rs104895252 12:6443010-6443010 12:6333844-6333844 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.214T>C (p.Cys72Arg) SNV not provided 97663 rs104895238 12:6443011-6443011 12:6333845-6333845 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.211_213del (p.Asp71del) deletion not provided 97662 rs104895246 12:6443012-6443014 12:6333846-6333848 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.204G>C (p.Leu68Phe) SNV not provided 97661 rs104895262 12:6443021-6443021 12:6333855-6333855 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.200A>G (p.Tyr67Cys) SNV not provided 97660 rs104895229 12:6443025-6443025 12:6333859-6333859 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.200A>C (p.Tyr67Ser) SNV not provided 97659 rs104895229 12:6443025-6443025 12:6333859-6333859 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.197C>T (p.Thr66Ile) SNV not provided 97658 rs104895243 12:6443028-6443028 12:6333862-6333862 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.194G>A (p.Gly65Glu) SNV not provided 97657 rs104895239 12:6443031-6443031 12:6333865-6333865 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.3(TNFRSF1A):c.472+1G>A SNV not provided 97704 rs104895287 12:6442532-6442532 12:6333366-6333366 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.262T>C (p.Ser88Pro) SNV not provided 97675 rs104895292 12:6442963-6442963 12:6333797-6333797 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.251G>C (p.Cys84Ser) SNV not provided 97674 rs104895224 12:6442974-6442974 12:6333808-6333808 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.293_295del (p.His98_Cys99delinsArg) deletion not provided 97685 rs104895261 12:6442930-6442932 12:6333764-6333766 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.3(TNFRSF1A):c.-281-278G>A SNV not provided 97421 rs151344625 12:6451539-6451539 12:6342373-6342373 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.3(TNFRSF1A):c.39+97G>A SNV not provided 97423 rs151344626 12:6450845-6450845 12:6341679-6341679 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.3(TNFRSF1A):c.40-981C>T SNV not provided 97424 rs151344627 12:6444391-6444391 12:6335225-6335225 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.3(TNFRSF1A):c.605T>A (p.Val202Asp) SNV not provided 97711 rs104895285 12:6440039-6440039 12:6330873-6330873 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.678C>G (p.Ser226=) SNV not provided 97712 rs104895258 12:6439825-6439825 12:6330659-6330659 PRD013 Periodic Fever, Familial, Autosomal Dominant TNFRSF1A NM_001065.4(TNFRSF1A):c.1080C>G (p.Tyr360Ter) SNV not provided 97642 rs104895291 12:6438766-6438766 12:6329600-6329600 PRD013 Periodic Fever, Familial, Autosomal Dominant NGLY1 NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs) deletion Pathogenic 548658 rs765211108 3:25770699-25770702 3:25729208-25729211 PRP019 Peripheral Nervous System Disease HARS1 NM_002109.6(HARS1):c.616G>T (p.Asp206Tyr) SNV Pathogenic 804285 5:140057507-140057507 5:140677922-140677922 PRP019 Peripheral Nervous System Disease HARS1 NM_002109.6:c.730delG deletion Pathogenic 804286 PRP019 Peripheral Nervous System Disease IARS2 NM_018060.4(IARS2):c.2726C>T (p.Pro909Leu) SNV Pathogenic 156553 rs587783070 1:220316451-220316451 1:220143109-220143109 PRP019 Peripheral Nervous System Disease NEFL NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) SNV Pathogenic/Likely pathogenic 14029 rs28928910 8:24813966-24813966 8:24956452-24956452 PRP019 Peripheral Nervous System Disease CHRNG NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys) SNV Pathogenic/Likely pathogenic 397615 rs777219451 2:233405327-233405327 2:232540617-232540617 PRP019 Peripheral Nervous System Disease COX6A1 NM_004373.4(COX6A1):c.103+1G>C SNV Likely pathogenic 560368 rs377504835 12:120876033-120876033 12:120438230-120438230 PRP019 Peripheral Nervous System Disease PMP2 NM_002677.5(PMP2):c.128T>A (p.Ile43Asn) SNV Likely pathogenic 243087 rs879253869 8:82357170-82357170 8:81444935-81444935 PRP019 Peripheral Nervous System Disease SPTLC3 NM_018327.4(SPTLC3):c.448T>C (p.Trp150Arg) SNV Likely pathogenic 243088 rs755919784 20:13053048-13053048 20:13072400-13072400 PRP019 Peripheral Nervous System Disease NEB NM_001271208.2(NEB):c.16637G>A (p.Arg5546His) SNV Conflicting interpretations of pathogenicity 257765 rs201111610 2:152435919-152435919 2:151579405-151579405 PRP019 Peripheral Nervous System Disease NEB NM_001271208.2(NEB):c.21902C>T (p.Pro7301Leu) SNV Conflicting interpretations of pathogenicity 387835 rs367626762 2:152384038-152384038 2:151527524-151527524 PRP019 Peripheral Nervous System Disease DNAJB5 NM_001135005.3(DNAJB5):c.43C>T (p.Pro15Ser) SNV Conflicting interpretations of pathogenicity 243086 rs774909609 9:34990670-34990670 9:34990673-34990673 PRP019 Peripheral Nervous System Disease LMNA NM_170707.4(LMNA):c.344A>T (p.Glu115Val) SNV Conflicting interpretations of pathogenicity 200932 rs794728588 1:156085053-156085053 1:156115262-156115262 PRP019 Peripheral Nervous System Disease SPTAN1 NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn) SNV Conflicting interpretations of pathogenicity 207286 rs574740801 9:131367749-131367749 9:128605470-128605470 PRP019 Peripheral Nervous System Disease ABCA4 NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu) SNV Conflicting interpretations of pathogenicity 99113 rs62654397 1:94577093-94577093 1:94111537-94111537 PRP019 Peripheral Nervous System Disease DNM2 NM_001005360.2(DNM2):c.190G>A (p.Val64Ile) SNV Conflicting interpretations of pathogenicity 133978 rs144250390 19:10870442-10870442 19:10759766-10759766 PRP019 Peripheral Nervous System Disease LMNA NM_170707.4(LMNA):c.1634G>A (p.Arg545His) SNV Conflicting interpretations of pathogenicity 163878 rs142191737 1:156107470-156107470 1:156137679-156137679 PRP019 Peripheral Nervous System Disease MEFV NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) SNV Conflicting interpretations of pathogenicity 2547 rs104895094 16:3293403-3293403 16:3243403-3243403 PRP019 Peripheral Nervous System Disease ABCA4 NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) SNV Conflicting interpretations of pathogenicity 7879 rs76157638 1:94517254-94517254 1:94051698-94051698 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+34908C>T SNV Conflicting interpretations of pathogenicity 530943 rs143337663 11:63883803-63883803 11:64116331-64116331 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+34743C>T SNV Uncertain significance 530937 rs770193280 11:63883968-63883968 11:64116496-64116496 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+33591C>T SNV Uncertain significance 530934 rs138289564 11:63885120-63885120 11:64117648-64117648 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+33852C>G SNV Uncertain significance 530941 rs138445479 11:63884859-63884859 11:64117387-64117387 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+33260C>A SNV Uncertain significance 530936 rs143309484 11:63885451-63885451 11:64117979-64117979 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+33192T>C SNV Uncertain significance 530940 rs150249733 11:63885519-63885519 11:64118047-64118047 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+34934G>A SNV Uncertain significance 530938 rs139768227 11:63883777-63883777 11:64116305-64116305 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+34449C>T SNV Uncertain significance 530935 rs148012979 11:63884262-63884262 11:64116790-64116790 PRP019 Peripheral Nervous System Disease KCNJ10 NM_002241.5(KCNJ10):c.967T>C (p.Tyr323His) SNV Uncertain significance 816536 1:160011356-160011356 1:160041566-160041566 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+34721G>A SNV Uncertain significance 857225 11:63883990-63883990 11:64116518-64116518 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+34501G>T SNV Uncertain significance 842634 11:63884210-63884210 11:64116738-64116738 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+33995C>T SNV Uncertain significance 859555 11:63884716-63884716 11:64117244-64117244 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+33326G>A SNV Uncertain significance 835656 11:63885385-63885385 11:64117913-64117913 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+33197C>T SNV Uncertain significance 845837 11:63885514-63885514 11:64118042-64118042 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+33180C>T SNV Uncertain significance 840095 11:63885531-63885531 11:64118059-64118059 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+34761C>G SNV Uncertain significance 530933 rs777177875 11:63883950-63883950 11:64116478-64116478 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+33617C>T SNV Uncertain significance 530939 rs150825004 11:63885094-63885094 11:64117622-64117622 PRP019 Peripheral Nervous System Disease MYBPC3 NM_000256.3(MYBPC3):c.3614G>A (p.Arg1205Gln) SNV Uncertain significance 181014 rs730880596 11:47354130-47354130 11:47332579-47332579 PRP019 Peripheral Nervous System Disease KIF24 deletion Uncertain significance 243059 9:34280042-34296294 9:34280044-34296296 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+34535G>A SNV Uncertain significance 579757 rs756250929 11:63884176-63884176 11:64116704-64116704 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+34898_517+34918del deletion Uncertain significance 571356 rs1565240655 11:63883793-63883813 11:64116321-64116341 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+34196G>A SNV Uncertain significance 566239 rs776773158 11:63884515-63884515 11:64117043-64117043 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+33881C>T SNV Uncertain significance 565723 rs767022154 11:63884830-63884830 11:64117358-64117358 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+33719C>T SNV Uncertain significance 568577 rs769032516 11:63884992-63884992 11:64117520-64117520 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+33604C>A SNV Uncertain significance 566560 rs1395376914 11:63885107-63885107 11:64117635-64117635 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+34250T>A SNV Uncertain significance 577882 rs1565241569 11:63884461-63884461 11:64116989-64116989 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+33243C>T SNV Uncertain significance 575806 rs140274429 11:63885468-63885468 11:64117996-64117996 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+34305T>C SNV Uncertain significance 643512 11:63884406-63884406 11:64116934-64116934 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+34236G>A SNV Uncertain significance 647420 11:63884475-63884475 11:64117003-64117003 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+33906T>G SNV Uncertain significance 640772 11:63884805-63884805 11:64117333-64117333 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+33328C>A SNV Uncertain significance 658157 11:63885383-63885383 11:64117911-64117911 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+33198G>A SNV Uncertain significance 645543 11:63885513-63885513 11:64118041-64118041 PRP019 Peripheral Nervous System Disease KIFBP NM_015634.4(KIFBP):c.167_187dup (p.Asp56_Glu62dup) duplication Uncertain significance 397616 rs767103634 10:70748746-70748747 10:68988990-68988991 PRP019 Peripheral Nervous System Disease SBF2 NM_030962.3(SBF2):c.5014_5016del (p.Lys1672del) deletion Uncertain significance 397621 rs750958357 11:9809202-9809204 11:9787655-9787657 PRP019 Peripheral Nervous System Disease MKS1 NM_001165927.1(MKS1):c.1577G>A (p.Arg526Gln) SNV Uncertain significance 397617 rs746283445 17:56283513-56283513 17:58206152-58206152 PRP019 Peripheral Nervous System Disease PRX NM_020956.2(PRX):c.*2540G>A SNV Uncertain significance 397620 rs369505684 19:40901924-40901924 19:40396017-40396017 PRP019 Peripheral Nervous System Disease PNPLA6 NM_001166114.2(PNPLA6):c.1205C>T (p.Ser402Leu) SNV Uncertain significance 397619 rs372193709 19:7606906-7606906 19:7542020-7542020 PRP019 Peripheral Nervous System Disease PHKA1 NM_002637.4(PHKA1):c.1272T>A (p.Asp424Glu) SNV Uncertain significance 397618 rs1060499719 X:71870292-71870292 X:72650442-72650442 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+34934G>C SNV Uncertain significance 461801 rs139768227 11:63883777-63883777 11:64116305-64116305 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+33243C>G SNV Uncertain significance 461796 rs140274429 11:63885468-63885468 11:64117996-64117996 PRP019 Peripheral Nervous System Disease DYSF NM_001130987.2(DYSF):c.1449G>A (p.Met483Ile) SNV Uncertain significance 288879 rs146064054 2:71762219-71762219 2:71535089-71535089 PRP019 Peripheral Nervous System Disease ND4 NC_012920.1:m.11896C>G SNV Uncertain significance 370054 rs1057516065 MT:11896-11896 MT:11896-11896 PRP019 Peripheral Nervous System Disease MYH14 NM_001145809.2(MYH14):c.1945+6G>A SNV Uncertain significance 374064 rs1057518869 19:50756016-50756016 19:50252759-50252759 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+33129G>A SNV Likely benign 704987 11:63885582-63885582 11:64118110-64118110 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+33079= SNV Likely benign 461799 rs4379854 11:63885632-63885632 11:64118160-64118160 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+34565T>C SNV Likely benign 461802 rs116999073 11:63884146-63884146 11:64116674-64116674 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+33788G>A SNV Likely benign 461793 rs138676741 11:63884923-63884923 11:64117451-64117451 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+33340G>A SNV Likely benign 461794 rs142685980 11:63885371-63885371 11:64117899-64117899 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+34189G>A SNV Likely benign 461804 rs139711112 11:63884522-63884522 11:64117050-64117050 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+33014A>G SNV Likely benign 461800 rs79628679 11:63885697-63885697 11:64118225-64118225 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+34252G>A SNV Likely benign 703913 11:63884459-63884459 11:64116987-64116987 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+33198G>T SNV Benign 706638 11:63885513-63885513 11:64118041-64118041 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+34079C>T SNV Benign 530944 rs145399902 11:63884632-63884632 11:64117160-64117160 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+34864G>A SNV Benign 461792 rs200588570 11:63883847-63883847 11:64116375-64116375 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+34150C>T SNV Benign 461805 rs34856996 11:63884561-63884561 11:64117089-64117089 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+33964G>A SNV Benign 461791 rs35247680 11:63884747-63884747 11:64117275-64117275 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+33244G>A SNV Benign 461795 rs35851449 11:63885467-63885467 11:64117995-64117995 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+33139G>A SNV Benign 461798 rs147439962 11:63885572-63885572 11:64118100-64118100 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+34515G>A SNV Benign 461803 rs61731568 11:63884196-63884196 11:64116724-64116724 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+33139G>T SNV Benign 461797 rs147439962 11:63885572-63885572 11:64118100-64118100 PRP019 Peripheral Nervous System Disease FLRT1 NM_014067.4(MACROD1):c.517+34855G>A SNV Benign 704715 11:63883856-63883856 11:64116384-64116384 PRP019 Peripheral Nervous System Disease PCK2 NM_004563.4(PCK2):c.577C>T (p.Arg193Ter) SNV Conflicting interpretations of pathogenicity 451808 rs753706965 14:24567800-24567800 14:24098591-24098591 PHS028 Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial PCK2 NM_004563.4(PCK2):c.68C>G (p.Ser23Ter) SNV Conflicting interpretations of pathogenicity 374449 rs61752842 14:24566139-24566139 14:24096930-24096930 PHS028 Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial PCK2 NM_004563.4(PCK2):c.6C>T (p.Ala2=) SNV Benign 559129 rs77298044 14:24563620-24563620 14:24094411-24094411 PHS028 Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial PCK2 NM_004563.4(PCK2):c.362= (p.Pro121=) undetermined variant Benign 803011 14:24567498-24567498 14:24098289-24098289 PHS028 Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial PCK2 NM_004563.4(PCK2):c.1468+2T>C SNV not provided 440999 rs148019349 14:24572466-24572466 14:24103257-24103257 PHS028 Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial SPG7 NM_003119.4(SPG7):c.87G>A (p.Trp29Ter) SNV Pathogenic 689557 16:89574912-89574912 16:89508504-89508504 PLY019 Polyneuropathy GDAP1 NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) SNV Pathogenic 4200 rs104894080 8:75276240-75276240 8:74364005-74364005 PLY019 Polyneuropathy ERCC5 NM_000123.3(ERCC5):c.2927_2928CT[1] (p.Leu977fs) short repeat Likely pathogenic 373982 rs1057518813 13:103525655-103525656 13:102873305-102873306 PLY019 Polyneuropathy MED25 NM_030973.3(MED25):c.2088G>A (p.Leu696=) SNV Conflicting interpretations of pathogenicity 221058 rs371157406 19:50339605-50339605 19:49836348-49836348 PLY019 Polyneuropathy SMC1A NM_001281463.1(SMC1A):c.2915A>G (p.Gln972Arg) SNV Uncertain significance 373969 rs781817923 X:53410167-53410167 X:53383246-53383246 PLY019 Polyneuropathy MED25 NM_030973.3(MED25):c.305+14C>G SNV Uncertain significance 689579 19:50322567-50322567 19:49819310-49819310 PLY019 Polyneuropathy MED25 NM_030973.3(MED25):c.1086C>T (p.Pro362=) SNV Uncertain significance 689543 19:50334129-50334129 19:49830872-49830872 PLY019 Polyneuropathy REEP1 NM_001371279.1(REEP1):c.789G>A (p.Pro263=) SNV Uncertain significance 694650 2:86444228-86444228 2:86217105-86217105 PLY019 Polyneuropathy TGM6 NM_198994.3(TGM6):c.691C>T (p.Arg231Ter) SNV Uncertain significance 437001 rs201338900 20:2380225-2380225 20:2399579-2399579 PLY019 Polyneuropathy LMNA NM_170707.4(LMNA):c.1270A>C (p.Thr424Pro) SNV Uncertain significance 689547 1:156106117-156106117 1:156136326-156136326 PLY019 Polyneuropathy DYNC1H1 NM_001376.5(DYNC1H1):c.2539-10C>A SNV Uncertain significance 689550 14:102453780-102453780 14:101987443-101987443 PLY019 Polyneuropathy POLG NM_002693.2(POLG):c.2982G>C (p.Trp994Cys) SNV Uncertain significance 689545 15:89862581-89862581 15:89319350-89319350 PLY019 Polyneuropathy BMPR1A BMPR1A, 11-BP DEL, CODON 42 deletion Pathogenic 8237 PLY066 Polyposis Syndrome, Hereditary Mixed, 2 BMPR1A NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His) SNV Conflicting interpretations of pathogenicity 41780 rs113849804 10:88683223-88683223 10:86923466-86923466 PLY066 Polyposis Syndrome, Hereditary Mixed, 2 BMPR1A NM_004329.2(BMPR1A):c.760C>T (p.Arg254Cys) SNV Conflicting interpretations of pathogenicity 142599 rs587782578 10:88676975-88676975 10:86917218-86917218 PLY066 Polyposis Syndrome, Hereditary Mixed, 2 BMPR1A NM_004329.2(BMPR1A):c.1379T>C (p.Met460Thr) SNV Uncertain significance 185192 rs758309022 10:88683169-88683169 10:86923412-86923412 PLY066 Polyposis Syndrome, Hereditary Mixed, 2 BMPR1A NM_004329.2(BMPR1A):c.676G>T (p.Val226Phe) SNV Uncertain significance 127902 rs587780110 10:88676891-88676891 10:86917134-86917134 PLY066 Polyposis Syndrome, Hereditary Mixed, 2 BMPR1A NM_004329.2(BMPR1A):c.478A>G (p.Met160Val) SNV Uncertain significance 141022 rs145101532 10:88659831-88659831 10:86900074-86900074 PLY066 Polyposis Syndrome, Hereditary Mixed, 2 RARS2 NM_020320.5(RARS2):c.1237+1G>A SNV Pathogenic 488586 rs759922477 6:88229300-88229300 6:87519582-87519582 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.1612del (p.Thr538fs) deletion Pathogenic 522857 rs781417096 6:88224713-88224713 6:87514995-87514995 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.-2A>G SNV Pathogenic 802251 6:88299677-88299677 6:87589959-87589959 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.110+5A>G SNV Pathogenic 891 6:88279230-88279230 6:87569512-87569512 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.1024A>G (p.Met342Val) SNV Pathogenic 30911 rs387907048 6:88231193-88231193 6:87521475-87521475 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 RARS2, -2A-G SNV Pathogenic 208208 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.1A>G (p.Met1Val) SNV Pathogenic 225026 rs774923951 6:88299675-88299675 6:87589957-87589957 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.419T>G (p.Phe140Cys) SNV Pathogenic/Likely pathogenic 215055 rs772887102 6:88258341-88258341 6:87548623-87548623 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.943C>T (p.Arg315Ter) SNV Pathogenic/Likely pathogenic 215061 rs199835443 6:88234306-88234306 6:87524588-87524588 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.1054_1055del (p.Lys352fs) deletion Likely pathogenic 212016 rs756696262 6:88229955-88229956 6:87520237-87520238 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.370del (p.Gln124fs) deletion Likely pathogenic 436508 rs1554203400 6:88265151-88265151 6:87555433-87555433 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly) SNV Likely pathogenic 488585 rs765088174 6:88226566-88226566 6:87516848-87516848 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.848T>A (p.Leu283Gln) SNV Likely pathogenic 632596 rs1258569046 6:88239290-88239290 6:87529572-87529572 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.1650+5G>A SNV Likely pathogenic 632595 rs750433723 6:88224670-88224670 6:87514952-87514952 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.1282G>A (p.Gly428Arg) SNV Likely pathogenic 802249 6:88228565-88228565 6:87518847-87518847 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.449T>C (p.Ile150Thr) SNV Likely pathogenic 802250 6:88258311-88258311 6:87548593-87548593 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.456T>C (p.Asn152=) SNV Conflicting interpretations of pathogenicity 138891 rs141374913 6:88255413-88255413 6:87545695-87545695 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.888G>C (p.Thr296=) SNV Conflicting interpretations of pathogenicity 138896 rs145189950 6:88234361-88234361 6:87524643-87524643 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.975-14C>T SNV Conflicting interpretations of pathogenicity 138897 rs199941996 6:88231256-88231256 6:87521538-87521538 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.1679G>A (p.Arg560His) SNV Conflicting interpretations of pathogenicity 215071 rs756502974 6:88224189-88224189 6:87514471-87514471 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu) SNV Conflicting interpretations of pathogenicity 215054 rs142348911 6:88224688-88224688 6:87514970-87514970 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.1366C>T (p.Arg456Cys) SNV Conflicting interpretations of pathogenicity 215068 rs147844153 6:88228397-88228397 6:87518679-87518679 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.1026G>A (p.Met342Ile) SNV Conflicting interpretations of pathogenicity 215064 rs34647222 6:88231191-88231191 6:87521473-87521473 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.1306-8C>T SNV Conflicting interpretations of pathogenicity 737185 6:88228465-88228465 6:87518747-87518747 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.35A>G (p.Gln12Arg) SNV Conflicting interpretations of pathogenicity 30912 rs147391618 6:88299641-88299641 6:87589923-87589923 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.78A>C (p.Thr26=) SNV Conflicting interpretations of pathogenicity 195354 rs138360045 6:88279267-88279267 6:87569549-87569549 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.472_474del (p.Lys158del) deletion Conflicting interpretations of pathogenicity 215072 rs757743894 6:88255395-88255397 6:87545677-87545679 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.888G>A (p.Thr296=) SNV Conflicting interpretations of pathogenicity 289735 rs145189950 6:88234361-88234361 6:87524643-87524643 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.245G>A (p.Ser82Asn) SNV Conflicting interpretations of pathogenicity 358238 rs749061654 6:88272472-88272472 6:87562754-87562754 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.442A>G (p.Thr148Ala) SNV Conflicting interpretations of pathogenicity 358237 rs143389605 6:88258318-88258318 6:87548600-87548600 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.207A>G (p.Ala69=) SNV Conflicting interpretations of pathogenicity 358239 rs568483789 6:88273854-88273854 6:87564136-87564136 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.1511+3A>G SNV Uncertain significance 358231 rs886061821 6:88227884-88227884 6:87518166-87518166 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.1036-9C>T SNV Uncertain significance 358233 rs886061822 6:88229983-88229983 6:87520265-87520265 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.754T>A (p.Tyr252Asn) SNV Uncertain significance 358236 rs140692271 6:88240519-88240519 6:87530801-87530801 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.1492A>G (p.Ile498Val) SNV Uncertain significance 358232 rs200632524 6:88227906-88227906 6:87518188-87518188 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.783A>G (p.Val261=) SNV Uncertain significance 358235 rs770878816 6:88239355-88239355 6:87529637-87529637 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.26T>C (p.Ile9Thr) SNV Uncertain significance 358240 rs371367255 6:88299650-88299650 6:87589932-87589932 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.189del (p.Gln64fs) deletion Uncertain significance 225452 rs1085307089 6:88273872-88273872 6:87564154-87564154 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.818G>T (p.Arg273Leu) SNV Uncertain significance 215059 rs139721632 6:88239320-88239320 6:87529602-87529602 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.818G>C (p.Arg273Pro) SNV Uncertain significance 215058 rs139721632 6:88239320-88239320 6:87529602-87529602 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.773G>A (p.Arg258His) SNV Uncertain significance 215080 rs145297855 6:88239365-88239365 6:87529647-87529647 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.1564G>A (p.Val522Ile) SNV Uncertain significance 869402 6:88226546-88226546 6:87516828-87516828 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.5C>T (p.Ala2Val) SNV Uncertain significance 869401 6:88299671-88299671 6:87589953-87589953 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.1367G>A (p.Arg456His) SNV Uncertain significance 909638 6:88228396-88228396 6:87518678-87518678 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.879-13T>C SNV Uncertain significance 910569 6:88234383-88234383 6:87524665-87524665 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.1405C>T (p.Arg469Cys) SNV Uncertain significance 548557 rs767150990 6:88228358-88228358 6:87518640-87518640 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.214C>G (p.Leu72Val) SNV Uncertain significance 561096 rs1562212838 6:88272503-88272503 6:87562785-87562785 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.1410C>A (p.Leu470=) SNV Benign/Likely benign 138898 rs139564081 6:88228353-88228353 6:87518635-87518635 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.-8A>C SNV Benign/Likely benign 138893 rs28381459 6:88299683-88299683 6:87589965-87589965 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.1704A>G (p.Lys568=) SNV Benign/Likely benign 130095 rs8802 6:88224164-88224164 6:87514446-87514446 PNT036 Pontocerebellar Hypoplasia, Type 6 SLC35A1 NM_020320.5(RARS2):c.1704A>G (p.Lys568=) SNV Benign/Likely benign 130095 rs8802 6:88224164-88224164 6:87514446-87514446 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.63A>G (p.Pro21=) SNV Benign/Likely benign 130097 rs7748563 6:88279282-88279282 6:87569564-87569564 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.726A>G (p.Gln242=) SNV Benign/Likely benign 212017 rs145499324 6:88240547-88240547 6:87530829-87530829 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.-13C>T SNV Benign/Likely benign 358241 rs200228607 6:88299688-88299688 6:87589970-87589970 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.660A>C (p.Ala220=) SNV Benign/Likely benign 378470 rs553502877 6:88240613-88240613 6:87530895-87530895 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.879-6T>C SNV Benign 358234 rs117516147 6:88234376-88234376 6:87524658-87524658 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.703G>A (p.Val235Met) SNV Benign 130098 rs35862137 6:88240570-88240570 6:87530852-87530852 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.872A>G (p.Lys291Arg) SNV Benign 130099 rs17850652 6:88239266-88239266 6:87529548-87529548 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.991A>G (p.Ile331Val) SNV Benign 130100 rs3757370 6:88231226-88231226 6:87521508-87521508 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.606C>T (p.Leu202=) SNV Benign 130096 rs75794097 6:88251642-88251642 6:87541924-87541924 PNT036 Pontocerebellar Hypoplasia, Type 6 RARS2 NM_020320.5(RARS2):c.155A>T (p.Lys52Ile) SNV Benign 130094 rs73496064 6:88273906-88273906 6:87564188-87564188 PNT036 Pontocerebellar Hypoplasia, Type 6 TWNK NM_021830.5(TWNK):c.1422G>C (p.Trp474Cys) SNV Pathogenic 694438 10:102749579-102749579 10:100989822-100989822 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.2864A>G (p.Tyr955Cys) SNV Pathogenic 13495 rs113994099 15:89864114-89864114 15:89320883-89320883 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) SNV Pathogenic 13496 rs113994095 15:89870432-89870432 15:89327201-89327201 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_001126131.2(POLG):c.2542G>A (p.Gly848Ser) SNV Pathogenic 13502 rs113994098 15:89865023-89865023 15:89321792-89321792 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.2869G>T (p.Ala957Ser) SNV Pathogenic 13508 rs121918051 15:89864109-89864109 15:89320878-89320878 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.1532G>A (p.Ser511Asn) SNV Pathogenic 13514 rs121918055 15:89870196-89870196 15:89326965-89326965 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.3(POLG):c.3286C>T SNV Pathogenic/Likely pathogenic 206556 rs201732356 15:89861968-89861968 15:89318737-89318737 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.911T>G (p.Leu304Arg) SNV Pathogenic/Likely pathogenic 13497 rs121918044 15:89872286-89872286 15:89329055-89329055 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) SNV Pathogenic/Likely pathogenic 13513 rs121918054 15:89866691-89866691 15:89323460-89323460 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.2678C>T (p.Ser893Phe) SNV Likely pathogenic 694423 15:89864412-89864412 15:89321181-89321181 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.1646del (p.Leu549fs) deletion Likely pathogenic 449949 rs1555453538 15:89869909-89869909 15:89326678-89326678 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.2027C>T (p.Ala676Val) SNV Conflicting interpretations of pathogenicity 451086 rs376306906 15:89867381-89867381 15:89324150-89324150 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.3667A>G (p.Ile1223Val) SNV Conflicting interpretations of pathogenicity 458718 rs148786642 15:89860035-89860035 15:89316804-89316804 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.1276G>A (p.Gly426Ser) SNV Conflicting interpretations of pathogenicity 458687 rs775576189 15:89870555-89870555 15:89327324-89327324 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) SNV Conflicting interpretations of pathogenicity 65665 rs61752783 15:89870178-89870178 15:89326947-89326947 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.803G>C (p.Gly268Ala) SNV Conflicting interpretations of pathogenicity 196354 rs61752784 15:89873364-89873364 15:89330133-89330133 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.1174C>G (p.Leu392Val) SNV Conflicting interpretations of pathogenicity 198151 rs145289229 15:89871763-89871763 15:89328532-89328532 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) SNV Conflicting interpretations of pathogenicity 13509 rs41549716 15:89865073-89865073 15:89321842-89321842 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.2601T>C (p.Pro867=) SNV Conflicting interpretations of pathogenicity 138750 rs201749977 15:89864489-89864489 15:89321258-89321258 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.3482+6C>T SNV Conflicting interpretations of pathogenicity 138760 rs55779802 15:89861766-89861766 15:89318535-89318535 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.1837C>T (p.His613Tyr) SNV Conflicting interpretations of pathogenicity 193643 rs147407423 15:89868793-89868793 15:89325562-89325562 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.32G>A (p.Gly11Asp) SNV Conflicting interpretations of pathogenicity 195182 rs765472726 15:89876954-89876954 15:89333723-89333723 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.2021G>A (p.Gly674Asp) SNV Conflicting interpretations of pathogenicity 206462 rs200257554 15:89867387-89867387 15:89324156-89324156 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.328C>T (p.His110Tyr) SNV Conflicting interpretations of pathogenicity 206619 rs139599587 15:89876658-89876658 15:89333427-89333427 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.3075G>A (p.Leu1025=) SNV Conflicting interpretations of pathogenicity 239380 rs146404260 15:89862488-89862488 15:89319257-89319257 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.2554C>T (p.Arg852Cys) SNV Conflicting interpretations of pathogenicity 206528 rs144500145 15:89865011-89865011 15:89321780-89321780 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.2207A>G (p.Asn736Ser) SNV Conflicting interpretations of pathogenicity 206516 rs138457939 15:89866693-89866693 15:89323462-89323462 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) SNV Conflicting interpretations of pathogenicity 206596 rs145843073 15:89870429-89870429 15:89327198-89327198 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.1328G>A (p.Arg443His) SNV Uncertain significance 206593 rs796052903 15:89870503-89870503 15:89327272-89327272 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.862C>T (p.Arg288Cys) SNV Uncertain significance 206586 rs564582352 15:89872335-89872335 15:89329104-89329104 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.460G>A (p.Ala154Thr) SNV Uncertain significance 206578 rs753858440 15:89876526-89876526 15:89333295-89333295 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.2085T>G (p.Asp695Glu) SNV Uncertain significance 206509 rs776848222 15:89867118-89867118 15:89323887-89323887 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.2059A>G (p.Ile687Val) SNV Uncertain significance 206508 rs796052881 15:89867349-89867349 15:89324118-89324118 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.3204C>G (p.Asp1068Glu) SNV Uncertain significance 388649 rs1057523186 15:89862231-89862231 15:89319000-89319000 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.1570C>G (p.Pro524Ala) SNV Uncertain significance 206631 rs577476988 15:89870158-89870158 15:89326927-89326927 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.3176A>G (p.Asn1059Ser) SNV Uncertain significance 195487 rs201192905 15:89862259-89862259 15:89319028-89319028 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.3425G>A (p.Arg1142Gln) SNV Uncertain significance 195591 rs536732038 15:89861829-89861829 15:89318598-89318598 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 FANCI NM_002693.2(POLG):c.3650C>T (p.Ala1217Val) SNV Uncertain significance 206575 rs199751339 15:89860052-89860052 15:89316821-89316821 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.3650C>T (p.Ala1217Val) SNV Uncertain significance 206575 rs199751339 15:89860052-89860052 15:89316821-89316821 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.3505G>A (p.Gly1169Ser) SNV Uncertain significance 206568 rs753864625 15:89860745-89860745 15:89317514-89317514 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.3323A>T (p.Tyr1108Phe) SNV Uncertain significance 206475 rs765949668 15:89861931-89861931 15:89318700-89318700 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.3131T>C (p.Val1044Ala) SNV Uncertain significance 129994 rs150233690 15:89862304-89862304 15:89319073-89319073 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.3098C>T (p.Ala1033Val) SNV Uncertain significance 206470 rs551708243 15:89862465-89862465 15:89319234-89319234 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.3076C>T (p.Arg1026Cys) SNV Uncertain significance 206546 rs760043525 15:89862487-89862487 15:89319256-89319256 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.1882C>T (p.Arg628Trp) SNV Uncertain significance 458698 rs754245040 15:89868748-89868748 15:89325517-89325517 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.3317T>C (p.Val1106Ala) SNV Uncertain significance 522129 rs1354582663 15:89861937-89861937 15:89318706-89318706 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.1615_1623del (p.Phe539_Gln541del) deletion Uncertain significance 548594 rs754586219 15:89869932-89869940 15:89326701-89326709 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.2069C>T (p.Thr690Met) SNV Uncertain significance 579888 rs201677865 15:89867339-89867339 15:89324108-89324108 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.260T>C (p.Ile87Thr) SNV Uncertain significance 585152 rs776347449 15:89876726-89876726 15:89333495-89333495 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.2466C>G (p.Pro822=) SNV Uncertain significance 625997 rs1235161601 15:89865207-89865207 15:89321976-89321976 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.3211C>T (p.Arg1071Cys) SNV Uncertain significance 689441 rs762593265 15:89862224-89862224 15:89318993-89318993 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.2468G>A (p.Arg823His) SNV Uncertain significance 448102 rs751172552 15:89865205-89865205 15:89321974-89321974 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.2(POLG):c.729C>A (p.Asp243Glu) SNV Uncertain significance 452496 rs757917194 15:89873438-89873438 15:89330207-89330207 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 FANCI NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) SNV Benign/Likely benign 21312 rs2307441 15:89861826-89861826 15:89318595-89318595 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 POLG NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) SNV Benign/Likely benign 21312 rs2307441 15:89861826-89861826 15:89318595-89318595 PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 SLC25A4 NM_001151.4(SLC25A4):c.340G>C (p.Ala114Pro) SNV Pathogenic 18245 rs104893873 4:186066146-186066146 4:185144992-185144992 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.865G>A (p.Val289Met) SNV Pathogenic 18246 rs104893874 4:186068093-186068093 4:185146939-185146939 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.293T>C (p.Leu98Pro) SNV Pathogenic 18247 rs104893876 4:186066099-186066099 4:185144945-185144945 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.311A>G (p.Asp104Gly) SNV Pathogenic 18248 rs28999114 4:186066117-186066117 4:185144963-185144963 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*3195T>C SNV Uncertain significance 902158 4:186071320-186071320 4:185150166-185150166 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*3229A>G SNV Uncertain significance 902159 4:186071354-186071354 4:185150200-185150200 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*3264G>A SNV Uncertain significance 902160 4:186071389-186071389 4:185150235-185150235 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*3317G>A SNV Uncertain significance 902161 4:186071442-186071442 4:185150288-185150288 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*3335C>T SNV Uncertain significance 903039 4:186071460-186071460 4:185150306-185150306 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*3336G>A SNV Uncertain significance 903040 4:186071461-186071461 4:185150307-185150307 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*3394A>G SNV Uncertain significance 903041 4:186071519-186071519 4:185150365-185150365 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.-65C>T SNV Uncertain significance 902042 4:186064462-186064462 4:185143308-185143308 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*151T>C SNV Uncertain significance 900372 4:186068276-186068276 4:185147122-185147122 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*424A>G SNV Uncertain significance 348252 rs886059269 4:186068549-186068549 4:185147395-185147395 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*671A>G SNV Uncertain significance 348257 rs181474745 4:186068796-186068796 4:185147642-185147642 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*1163G>T SNV Uncertain significance 348264 rs886059272 4:186069288-186069288 4:185148134-185148134 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*448G>A SNV Uncertain significance 900374 4:186068573-186068573 4:185147419-185147419 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*482G>C SNV Uncertain significance 900375 4:186068607-186068607 4:185147453-185147453 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*571T>G SNV Uncertain significance 901522 4:186068696-186068696 4:185147542-185147542 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*655G>C SNV Uncertain significance 901523 4:186068780-186068780 4:185147626-185147626 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*994G>A SNV Uncertain significance 901524 4:186069119-186069119 4:185147965-185147965 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*1217A>C SNV Uncertain significance 902102 4:186069342-186069342 4:185148188-185148188 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*1546T>C SNV Uncertain significance 902103 4:186069671-186069671 4:185148517-185148517 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*2150G>T SNV Uncertain significance 902979 4:186070275-186070275 4:185149121-185149121 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*2363G>A SNV Uncertain significance 902980 4:186070488-186070488 4:185149334-185149334 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*2475C>T SNV Uncertain significance 902981 4:186070600-186070600 4:185149446-185149446 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*2499G>T SNV Uncertain significance 900425 4:186070624-186070624 4:185149470-185149470 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*2510T>C SNV Uncertain significance 900426 4:186070635-186070635 4:185149481-185149481 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*2616C>T SNV Uncertain significance 900427 4:186070741-186070741 4:185149587-185149587 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*2618C>G SNV Uncertain significance 900428 4:186070743-186070743 4:185149589-185149589 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*2697T>C SNV Uncertain significance 900429 4:186070822-186070822 4:185149668-185149668 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*2802C>T SNV Uncertain significance 900487 4:186070927-186070927 4:185149773-185149773 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*3025G>A SNV Uncertain significance 900488 4:186071150-186071150 4:185149996-185149996 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*2713G>A SNV Uncertain significance 348278 rs886059275 4:186070838-186070838 4:185149684-185149684 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*2782G>A SNV Uncertain significance 348280 rs886059276 4:186070907-186070907 4:185149753-185149753 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*3276C>T SNV Uncertain significance 348285 rs187103619 4:186071401-186071401 4:185150247-185150247 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.732G>C (p.Arg244=) SNV Uncertain significance 348246 rs886059266 4:186067046-186067046 4:185145892-185145892 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.793G>A (p.Glu265Lys) SNV Uncertain significance 348248 rs772055424 4:186068021-186068021 4:185146867-185146867 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*2350G>C SNV Uncertain significance 348272 rs886059274 4:186070475-186070475 4:185149321-185149321 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*2720G>A SNV Uncertain significance 348279 rs559222593 4:186070845-186070845 4:185149691-185149691 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*2592C>T SNV Uncertain significance 348277 rs575736094 4:186070717-186070717 4:185149563-185149563 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*2824G>C SNV Uncertain significance 348281 rs371093501 4:186070949-186070949 4:185149795-185149795 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*824C>T SNV Uncertain significance 348258 rs779103031 4:186068949-186068949 4:185147795-185147795 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*1378A>G SNV Uncertain significance 348266 rs868358526 4:186069503-186069503 4:185148349-185148349 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.-46G>A SNV Uncertain significance 348244 rs763271934 4:186064481-186064481 4:185143327-185143327 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*3277G>A SNV Uncertain significance 348286 rs886059277 4:186071402-186071402 4:185150248-185150248 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.243C>T (p.Tyr81=) SNV Likely benign 348245 rs779064025 4:186066049-186066049 4:185144895-185144895 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.756G>A (p.Thr252=) SNV Benign/Likely benign 348247 rs150786764 4:186067984-186067984 4:185146830-185146830 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*497T>G SNV Benign 348255 rs562129249 4:186068622-186068622 4:185147468-185147468 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*2307T>C SNV Benign 348271 rs2046535 4:186070432-186070432 4:185149278-185149278 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*2466C>A SNV Benign 348274 rs142255349 4:186070591-186070591 4:185149437-185149437 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*3070C>T SNV Benign 348283 rs539027516 4:186071195-186071195 4:185150041-185150041 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*873G>A SNV Benign 348259 rs76680834 4:186068998-186068998 4:185147844-185147844 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*1053T>C SNV Benign 348262 rs55905558 4:186069178-186069178 4:185148024-185148024 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*1146T>C SNV Benign 348263 rs537652975 4:186069271-186069271 4:185148117-185148117 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*1245T>A SNV Benign 348265 rs77959660 4:186069370-186069370 4:185148216-185148216 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*1792C>A SNV Benign 348267 rs3733653 4:186069917-186069917 4:185148763-185148763 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*1985T>C SNV Benign 348268 rs3733654 4:186070110-186070110 4:185148956-185148956 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.-103C>T SNV Benign 348242 rs190592847 4:186064424-186064424 4:185143270-185143270 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.-84C>A SNV Benign 348243 rs183128370 4:186064443-186064443 4:185143289-185143289 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*2943G>A SNV Benign 348282 rs7675110 4:186071068-186071068 4:185149914-185149914 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*3114C>A SNV Benign 348284 rs147626367 4:186071239-186071239 4:185150085-185150085 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*481G>T SNV Benign 348253 rs78882199 4:186068606-186068606 4:185147452-185147452 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*957T>C SNV Benign 348260 rs11930741 4:186069082-186069082 4:185147928-185147928 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*2476G>A SNV Benign 348275 rs76335670 4:186070601-186070601 4:185149447-185149447 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*3110G>C SNV Benign 902157 4:186071235-186071235 4:185150081-185150081 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*2050A>G SNV Benign 348270 rs76364770 4:186070175-186070175 4:185149021-185149021 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*2529C>T SNV Benign 348276 rs113950388 4:186070654-186070654 4:185149500-185149500 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*512A>G SNV Benign 348256 rs7660552 4:186068637-186068637 4:185147483-185147483 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.*277C>T SNV Benign 900373 4:186068402-186068402 4:185147248-185147248 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.681G>A (p.Val227=) SNV Benign 139152 rs34486484 4:186066995-186066995 4:185145841-185145841 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.-25G>A SNV Benign 139153 rs3733652 4:186064502-186064502 4:185143348-185143348 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 SLC25A4 NM_001151.4(SLC25A4):c.567T>C (p.Ala189=) SNV Benign 215170 rs149101873 4:186066373-186066373 4:185145219-185145219 PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 TWNK TWNK, 39-BP DUP duplication Pathogenic 4616 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.1423G>C (p.Ala475Pro) SNV Pathogenic 4617 rs111033572 10:102749580-102749580 10:100989823-100989823 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr) SNV Pathogenic 4618 rs111033573 10:102749042-102749042 10:100989285-100989285 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter) SNV Pathogenic 4619 rs111033574 10:102749579-102749579 10:100989822-100989822 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.944G>T (p.Trp315Leu) SNV Pathogenic 4620 rs111033575 10:102748911-102748911 10:100989154-100989154 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.1061G>C (p.Arg354Pro) SNV Pathogenic 4621 rs111033576 10:102749028-102749028 10:100989271-100989271 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.1142T>C (p.Leu381Pro) SNV Pathogenic 4622 rs111033577 10:102749109-102749109 10:100989352-100989352 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.1106C>A (p.Ser369Tyr) SNV Pathogenic 4624 rs111033579 10:102749073-102749073 10:100989316-100989316 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.955A>G (p.Lys319Glu) SNV Pathogenic 4625 rs80356543 10:102748922-102748922 10:100989165-100989165 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.908G>A (p.Arg303Gln) SNV Pathogenic 4628 rs137852956 10:102748875-102748875 10:100989118-100989118 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.1120C>T (p.Arg374Trp) SNV Likely pathogenic 4629 rs267606682 10:102749087-102749087 10:100989330-100989330 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.639C>T (p.Gly213=) SNV Conflicting interpretations of pathogenicity 136587 rs11542130 10:102748606-102748606 10:100988849-100988849 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.56G>A (p.Gly19Glu) SNV Conflicting interpretations of pathogenicity 426493 rs767175342 10:102748023-102748023 10:100988266-100988266 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.1244-14C>T SNV Conflicting interpretations of pathogenicity 507889 rs758757135 10:102749387-102749387 10:100989630-100989630 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro) SNV Conflicting interpretations of pathogenicity 632124 rs758026634 10:102749037-102749037 10:100989280-100989280 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.1953G>A (p.Lys651=) SNV Conflicting interpretations of pathogenicity 878401 10:102753165-102753165 10:100993408-100993408 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) SNV Conflicting interpretations of pathogenicity 214185 rs863223921 10:102749163-102749163 10:100989406-100989406 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg) SNV Conflicting interpretations of pathogenicity 214177 rs116046810 10:102750730-102750730 10:100990973-100990973 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) SNV Conflicting interpretations of pathogenicity 214178 rs370814108 10:102753187-102753187 10:100993430-100993430 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.2045G>A (p.Arg682His) SNV Conflicting interpretations of pathogenicity 214180 rs182559752 10:102753257-102753257 10:100993500-100993500 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.241C>G (p.Leu81Val) SNV Conflicting interpretations of pathogenicity 279715 rs145068570 10:102748208-102748208 10:100988451-100988451 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.384C>T (p.Ser128=) SNV Conflicting interpretations of pathogenicity 281415 rs148234280 10:102748351-102748351 10:100988594-100988594 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.-650A>G SNV Conflicting interpretations of pathogenicity 298484 rs187213541 10:102747318-102747318 10:100987561-100987561 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.672T>C (p.Ala224=) SNV Conflicting interpretations of pathogenicity 878844 10:102748639-102748639 10:100988882-100988882 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg) SNV Conflicting interpretations of pathogenicity 298500 rs62626271 10:102749009-102749009 10:100989252-100989252 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.1488T>C (p.Thr496=) SNV Conflicting interpretations of pathogenicity 298502 rs549767223 10:102750196-102750196 10:100990439-100990439 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.1735-14C>A SNV Conflicting interpretations of pathogenicity 136594 rs201795189 10:102752933-102752933 10:100993176-100993176 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.-290G>C SNV Conflicting interpretations of pathogenicity 298491 rs62626270 10:102747678-102747678 10:100987921-100987921 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.*301C>T SNV Conflicting interpretations of pathogenicity 298507 rs41291468 10:102753568-102753568 10:100993811-100993811 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.76G>A (p.Gly26Ser) SNV Conflicting interpretations of pathogenicity 298494 rs577209883 10:102748043-102748043 10:100988286-100988286 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.492C>T (p.Leu164=) SNV Conflicting interpretations of pathogenicity 298498 rs775463083 10:102748459-102748459 10:100988702-100988702 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.922T>C (p.Leu308=) SNV Conflicting interpretations of pathogenicity 298499 rs754389465 10:102748889-102748889 10:100989132-100989132 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.1101C>T (p.Ile367=) SNV Conflicting interpretations of pathogenicity 298501 rs200798080 10:102749068-102749068 10:100989311-100989311 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.*419A>T SNV Conflicting interpretations of pathogenicity 298509 rs187553791 10:102753686-102753686 10:100993929-100993929 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.1609T>C (p.Tyr537His) SNV Conflicting interpretations of pathogenicity 383137 rs144001072 10:102750642-102750642 10:100990885-100990885 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu) SNV Uncertain significance 298504 rs886046632 10:102753065-102753065 10:100993308-100993308 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.*574C>T SNV Uncertain significance 298515 rs886046636 10:102753841-102753841 10:100994084-100994084 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.*619G>A SNV Uncertain significance 298516 rs886046637 10:102753886-102753886 10:100994129-100994129 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.*709C>G SNV Uncertain significance 298517 rs41291470 10:102753976-102753976 10:100994219-100994219 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.*747C>G SNV Uncertain significance 298518 rs886046638 10:102754014-102754014 10:100994257-100994257 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.*763T>C SNV Uncertain significance 298519 rs886046639 10:102754030-102754030 10:100994273-100994273 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.-585T>G SNV Uncertain significance 298486 rs886046624 10:102747383-102747383 10:100987626-100987626 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.77G>T (p.Gly26Val) SNV Uncertain significance 298495 rs772221026 10:102748044-102748044 10:100988287-100988287 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.276C>T (p.Gly92=) SNV Uncertain significance 298497 rs886046631 10:102748243-102748243 10:100988486-100988486 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.-644A>T SNV Uncertain significance 298485 rs886046623 10:102747324-102747324 10:100987567-100987567 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.*438G>C SNV Uncertain significance 298510 rs886046634 10:102753705-102753705 10:100993948-100993948 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.-549G>A SNV Uncertain significance 298487 rs886046625 10:102747419-102747419 10:100987662-100987662 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.-470G>A SNV Uncertain significance 298488 rs886046626 10:102747498-102747498 10:100987741-100987741 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.*555G>A SNV Uncertain significance 298514 rs886046635 10:102753822-102753822 10:100994065-100994065 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.*234T>G SNV Uncertain significance 298506 rs886046633 10:102753501-102753501 10:100993744-100993744 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.*367A>G SNV Uncertain significance 298508 rs62626296 10:102753634-102753634 10:100993877-100993877 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.913G>A (p.Val305Ile) SNV Uncertain significance 880052 10:102748880-102748880 10:100989123-100989123 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.1572C>T (p.His524=) SNV Uncertain significance 877318 10:102750280-102750280 10:100990523-100990523 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr) SNV Uncertain significance 878940 10:102750630-102750630 10:100990873-100990873 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu) SNV Uncertain significance 877377 10:102753038-102753038 10:100993281-100993281 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr) SNV Uncertain significance 878400 10:102753118-102753118 10:100993361-100993361 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.-423C>T SNV Uncertain significance 298489 rs886046627 10:102747545-102747545 10:100987788-100987788 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.*248G>A SNV Uncertain significance 877431 10:102753515-102753515 10:100993758-100993758 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.*341G>A SNV Uncertain significance 878455 10:102753608-102753608 10:100993851-100993851 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.*346A>C SNV Uncertain significance 878456 10:102753613-102753613 10:100993856-100993856 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.*453G>A SNV Uncertain significance 880257 10:102753720-102753720 10:100993963-100993963 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.*552G>C SNV Uncertain significance 878511 10:102753819-102753819 10:100994062-100994062 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.*561C>T SNV Uncertain significance 879092 10:102753828-102753828 10:100994071-100994071 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.*769G>A SNV Uncertain significance 878551 10:102754036-102754036 10:100994279-100994279 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.-622C>T SNV Uncertain significance 877083 10:102747346-102747346 10:100987589-100987589 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.-592C>T SNV Uncertain significance 878124 10:102747376-102747376 10:100987619-100987619 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.-584G>C SNV Uncertain significance 879588 10:102747384-102747384 10:100987627-100987627 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.-418C>T SNV Uncertain significance 877145 10:102747550-102747550 10:100987793-100987793 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.-304G>A SNV Uncertain significance 877146 10:102747664-102747664 10:100987907-100987907 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.596G>A (p.Arg199Gln) SNV Uncertain significance 878242 10:102748563-102748563 10:100988806-100988806 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.-241C>T SNV Likely benign 298492 rs113159821 10:102747727-102747727 10:100987970-100987970 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.1172G>A (p.Arg391His) SNV Likely benign 162048 rs556445621 10:102749139-102749139 10:100989382-100989382 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.1527C>T (p.Asp509=) SNV Benign/Likely benign 298503 rs62626272 10:102750235-102750235 10:100990478-100990478 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.*455C>T SNV Benign/Likely benign 298511 rs148810959 10:102753722-102753722 10:100993965-100993965 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.*766A>T SNV Benign 298520 rs3740488 10:102754033-102754033 10:100994276-100994276 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.*204G>A SNV Benign 298505 rs61871507 10:102753471-102753471 10:100993714-100993714 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.*521C>G SNV Benign 298513 rs11542131 10:102753788-102753788 10:100994031-100994031 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.1102G>A (p.Val368Ile) SNV Benign 136588 rs17113613 10:102749069-102749069 10:100989312-100989312 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.1593-5C>T SNV Benign 136589 rs3740485 10:102750621-102750621 10:100990864-100990864 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.1593-3T>C SNV Benign 136590 rs3740486 10:102750623-102750623 10:100990866-100990866 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 TWNK NM_021830.5(TWNK):c.-605G>T SNV Benign 136593 rs3740484 10:102747363-102747363 10:100987606-100987606 PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 POLG2 NM_007215.4(POLG2):c.1352G>A (p.Gly451Glu) SNV Pathogenic 5276 rs104894632 17:62474046-62474046 17:64477929-64477929 PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 POLG2 NM_007215.4(POLG2):c.614C>G (p.Pro205Arg) SNV Pathogenic 40247 rs397514659 17:62489087-62489087 17:64492970-64492970 PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 POLG2 NM_007215.4(POLG2):c.1423_1424del (p.Leu475fs) deletion Pathogenic 40249 rs1568079613 17:62473974-62473975 17:64477857-64477858 PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 POLG2 NM_007215.4(POLG2):c.1105A>G (p.Arg369Gly) SNV Conflicting interpretations of pathogenicity 40248 rs201936720 17:62481850-62481850 17:64485733-64485733 PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 MILR1 NM_007215.4(POLG2):c.1417G>A (p.Asp473Asn) SNV Conflicting interpretations of pathogenicity 215019 rs563130304 17:62473981-62473981 17:64477864-64477864 PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 POLG2 NM_007215.4(POLG2):c.1417G>A (p.Asp473Asn) SNV Conflicting interpretations of pathogenicity 215019 rs563130304 17:62473981-62473981 17:64477864-64477864 PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 POLG2 NM_007215.4(POLG2):c.181G>A (p.Gly61Arg) SNV Conflicting interpretations of pathogenicity 215022 rs144148008 17:62492906-62492906 17:64496788-64496788 PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 POLG2 NM_007215.4(POLG2):c.674G>A (p.Arg225Gln) SNV Conflicting interpretations of pathogenicity 324559 rs148101254 17:62489027-62489027 17:64492910-64492910 PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 POLG2 NM_007215.4(POLG2):c.562+11C>T SNV Conflicting interpretations of pathogenicity 384209 rs782336056 17:62492514-62492514 17:64496396-64496396 PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 POLG2 NM_007215.4(POLG2):c.970-4G>A SNV Uncertain significance 889721 17:62481989-62481989 17:64485872-64485872 PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 POLG2 NM_007215.4(POLG2):c.-85C>T SNV Uncertain significance 324565 rs886053252 17:62493171-62493171 17:64497053-64497053 PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 POLG2 NM_007215.4(POLG2):c.358G>A (p.Val120Met) SNV Uncertain significance 324561 rs782034872 17:62492729-62492729 17:64496611-64496611 PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 POLG2 NM_007215.4(POLG2):c.-66C>T SNV Uncertain significance 324563 rs886053251 17:62493152-62493152 17:64497034-64497034 PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 POLG2 NM_007215.4(POLG2):c.673C>T (p.Arg225Ter) SNV Uncertain significance 488881 rs371515325 17:62489028-62489028 17:64492911-64492911 PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 POLG2 NM_007215.4(POLG2):c.1343_1347del (p.Thr447_Leu448insTer) deletion Uncertain significance 632287 rs1568079693 17:62474051-62474055 17:64477934-64477938 PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 POLG2 NM_007215.4(POLG2):c.1315T>C (p.Phe439Leu) SNV Uncertain significance 889720 17:62474083-62474083 17:64477966-64477966 PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 POLG2 NM_007215.4(POLG2):c.381G>A (p.Pro127=) SNV Uncertain significance 891271 17:62492706-62492706 17:64496588-64496588 PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 POLG2 NM_007215.4(POLG2):c.366G>T (p.Arg122Ser) SNV Uncertain significance 891272 17:62492721-62492721 17:64496603-64496603 PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 POLG2 NM_007215.4(POLG2):c.496C>G (p.Gln166Glu) SNV Likely benign 324560 rs370683331 17:62492591-62492591 17:64496473-64496473 PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 POLG2 NM_007215.4(POLG2):c.457C>G (p.Leu153Val) SNV Benign/Likely benign 215017 rs149446102 17:62492630-62492630 17:64496512-64496512 PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 POLG2 NM_007215.4(POLG2):c.1247G>C (p.Gly416Ala) SNV Benign/Likely benign 138783 rs17850455 17:62476451-62476451 17:64480334-64480334 PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 POLG2 NM_007215.4(POLG2):c.1269C>T (p.Ser423=) SNV Benign 138784 rs61733782 17:62476429-62476429 17:64480312-64480312 PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 POLG2 NM_007215.4(POLG2):c.397C>T (p.His133Tyr) SNV Benign 215023 rs112984118 17:62492690-62492690 17:64496572-64496572 PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 POLG2 NM_007215.4(POLG2):c.-81T>C SNV Benign 324564 rs9897606 17:62493167-62493167 17:64497049-64497049 PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 POLG2 NM_007215.4(POLG2):c.-70T>C SNV Benign 892465 17:62493156-62493156 17:64497038-64497038 PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 POLG2 NM_007215.4(POLG2):c.505G>A (p.Ala169Thr) SNV Benign 138782 rs1427463 17:62492582-62492582 17:64496464-64496464 PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 POLG2 NM_007215.4(POLG2):c.-61G>A SNV Benign 324562 rs552693721 17:62493147-62493147 17:64497029-64497029 PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 RRM2B NM_001172477.1(RRM2B):c.1195C>T (p.Arg399Ter) SNV Pathogenic 5391 rs121918310 8:103220438-103220438 8:102208210-102208210 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.1166del (p.Ser388_Leu389insTer) deletion Pathogenic 30432 rs515726199 8:103220467-103220467 8:102208239-102208239 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.1181dup (p.Asn394fs) duplication Pathogenic 30433 rs515726201 8:103220451-103220452 8:102208223-102208224 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NC_000008.11:g.102238975C>T SNV Conflicting interpretations of pathogenicity 909125 8:103251203-103251203 8:102238975-102238975 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*2822A>T SNV Conflicting interpretations of pathogenicity 361138 rs189278573 8:103217539-103217539 8:102205311-102205311 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.760A>G (p.Thr254Ala) SNV Conflicting interpretations of pathogenicity 215088 rs147315735 8:103236280-103236280 8:102224052-102224052 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*11G>A SNV Conflicting interpretations of pathogenicity 361175 rs29000285 8:103220350-103220350 8:102208122-102208122 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*3078G>T SNV Conflicting interpretations of pathogenicity 361133 rs113860402 8:103217283-103217283 8:102205055-102205055 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*817G>A SNV Conflicting interpretations of pathogenicity 361167 rs190474682 8:103219544-103219544 8:102207316-102207316 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.1129G>T (p.Ala377Ser) SNV Conflicting interpretations of pathogenicity 361176 rs201440849 8:103220504-103220504 8:102208276-102208276 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.972G>A (p.Arg324=) SNV Conflicting interpretations of pathogenicity 361178 rs377736828 8:103226315-103226315 8:102214087-102214087 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.756A>G (p.Lys252=) SNV Conflicting interpretations of pathogenicity 361179 rs200301242 8:103236284-103236284 8:102224056-102224056 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.1006-9T>C SNV Conflicting interpretations of pathogenicity 361177 rs573435546 8:103225126-103225126 8:102212898-102212898 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*2809G>A SNV Uncertain significance 361139 rs886062562 8:103217552-103217552 8:102205324-102205324 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*2722A>G SNV Uncertain significance 361140 rs543127762 8:103217639-103217639 8:102205411-102205411 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*855C>G SNV Uncertain significance 361166 rs886062567 8:103219506-103219506 8:102207278-102207278 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*247G>A SNV Uncertain significance 361172 rs886062568 8:103220114-103220114 8:102207886-102207886 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.719A>G (p.Lys240Arg) SNV Uncertain significance 361180 rs886062571 8:103236321-103236321 8:102224093-102224093 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*3266G>T SNV Uncertain significance 361131 rs746260787 8:103217095-103217095 8:102204867-102204867 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*2978A>G SNV Uncertain significance 361135 rs761021253 8:103217383-103217383 8:102205155-102205155 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*3125T>C SNV Uncertain significance 361132 rs886062560 8:103217236-103217236 8:102205008-102205008 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*328G>A SNV Uncertain significance 361171 rs142449540 8:103220033-103220033 8:102207805-102207805 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*552G>A SNV Uncertain significance 361170 rs375924434 8:103219809-103219809 8:102207581-102207581 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*73A>T SNV Uncertain significance 361174 rs886062570 8:103220288-103220288 8:102208060-102208060 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*2513T>C SNV Uncertain significance 361144 rs866323859 8:103217848-103217848 8:102205620-102205620 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*869G>T SNV Uncertain significance 361164 rs771055735 8:103219492-103219492 8:102207264-102207264 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*788T>C SNV Uncertain significance 361168 rs559700946 8:103219573-103219573 8:102207345-102207345 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*2960G>A SNV Uncertain significance 361136 rs886062561 8:103217401-103217401 8:102205173-102205173 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*3289A>G SNV Uncertain significance 361130 rs569359604 8:103217072-103217072 8:102204844-102204844 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*2410C>A SNV Uncertain significance 361146 rs767476703 8:103217951-103217951 8:102205723-102205723 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*1717T>A SNV Uncertain significance 361155 rs886062566 8:103218644-103218644 8:102206416-102206416 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NC_000008.11:g.102239067C>G SNV Uncertain significance 909969 8:103251295-103251295 8:102239067-102239067 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_015713.5(RRM2B):c.162A>G (p.Lys54=) SNV Uncertain significance 909123 8:103244419-103244419 8:102232191-102232191 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_015713.5(RRM2B):c.-1G>C SNV Uncertain significance 909124 8:103251103-103251103 8:102238875-102238875 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_015713.5(RRM2B):c.*3577G>T SNV Uncertain significance 909664 8:103216784-103216784 8:102204556-102204556 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_015713.5(RRM2B):c.*3473A>G SNV Uncertain significance 910591 8:103216888-103216888 8:102204660-102204660 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_015713.5(RRM2B):c.*3250G>C SNV Uncertain significance 908867 8:103217111-103217111 8:102204883-102204883 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_015713.5(RRM2B):c.*3118T>G SNV Uncertain significance 908868 8:103217243-103217243 8:102205015-102205015 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_015713.5(RRM2B):c.*2995A>T SNV Uncertain significance 909724 8:103217366-103217366 8:102205138-102205138 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_015713.5(RRM2B):c.*2991C>T SNV Uncertain significance 909725 8:103217370-103217370 8:102205142-102205142 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_015713.5(RRM2B):c.*2885A>G SNV Uncertain significance 910647 8:103217476-103217476 8:102205248-102205248 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_015713.5(RRM2B):c.*2728G>A SNV Uncertain significance 911873 8:103217633-103217633 8:102205405-102205405 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_015713.5(RRM2B):c.*1664T>A SNV Uncertain significance 910701 8:103218697-103218697 8:102206469-102206469 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_015713.5(RRM2B):c.*1552T>C SNV Uncertain significance 911923 8:103218809-103218809 8:102206581-102206581 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_015713.5(RRM2B):c.*1522A>G SNV Uncertain significance 911924 8:103218839-103218839 8:102206611-102206611 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_015713.5(RRM2B):c.*1510T>C SNV Uncertain significance 908996 8:103218851-103218851 8:102206623-102206623 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_015713.5(RRM2B):c.*1451A>C SNV Uncertain significance 908997 8:103218910-103218910 8:102206682-102206682 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_015713.5(RRM2B):c.*1337G>C SNV Uncertain significance 908998 8:103219024-103219024 8:102206796-102206796 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_015713.5(RRM2B):c.*895G>A SNV Uncertain significance 909862 8:103219466-103219466 8:102207238-102207238 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_015713.5(RRM2B):c.*485A>C SNV Uncertain significance 909055 8:103219876-103219876 8:102207648-102207648 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_015713.5(RRM2B):c.*436A>G SNV Uncertain significance 909056 8:103219925-103219925 8:102207697-102207697 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_015713.5(RRM2B):c.*190T>C SNV Benign/Likely benign 909057 8:103220171-103220171 8:102207943-102207943 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_015713.5(RRM2B):c.*1867C>T SNV Benign/Likely benign 909797 8:103218494-103218494 8:102206266-102206266 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*1596T>C SNV Benign/Likely benign 361158 rs182874090 8:103218765-103218765 8:102206537-102206537 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*3489A>G SNV Benign/Likely benign 361127 rs540839717 8:103216872-103216872 8:102204644-102204644 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*2236A>T SNV Benign/Likely benign 361148 rs566194929 8:103218125-103218125 8:102205897-102205897 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_015713.4(RRM2B):c.-153G>T SNV Benign/Likely benign 361183 rs2290707 8:103251255-103251255 8:102239027-102239027 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*1351T>C SNV Benign/Likely benign 361160 rs114108597 8:103219010-103219010 8:102206782-102206782 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*2136G>A SNV Benign 361150 rs139212686 8:103218225-103218225 8:102205997-102205997 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*3463C>T SNV Benign 361128 rs1052069 8:103216898-103216898 8:102204670-102204670 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_015713.4(RRM2B):c.-88C>A SNV Benign 361181 rs72554091 8:103251190-103251190 8:102238962-102238962 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*2097T>A SNV Benign 361151 rs116394626 8:103218264-103218264 8:102206036-102206036 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*2035A>G SNV Benign 361152 rs1055958 8:103218326-103218326 8:102206098-102206098 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*1488G>C SNV Benign 361159 rs1265116 8:103218873-103218873 8:102206645-102206645 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*866T>G SNV Benign 361165 rs29000286 8:103219495-103219495 8:102207267-102207267 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*2879A>G SNV Benign 361137 rs3204695 8:103217482-103217482 8:102205254-102205254 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_015713.4(RRM2B):c.-103G>A SNV Benign 361182 rs7844478 8:103251205-103251205 8:102238977-102238977 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_015713.4(RRM2B):c.-157G>A SNV Benign 361184 rs28927991 8:103251259-103251259 8:102239031-102239031 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*3555T>C SNV Benign 361125 rs29000293 8:103216806-103216806 8:102204578-102204578 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*1953A>G SNV Benign 361153 rs11987823 8:103218408-103218408 8:102206180-102206180 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*1673T>G SNV Benign 361156 rs16918482 8:103218688-103218688 8:102206460-102206460 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*1277A>T SNV Benign 361161 rs5005121 8:103219084-103219084 8:102206856-102206856 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*1121T>C SNV Benign 361162 rs4102401 8:103219240-103219240 8:102207012-102207012 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*998A>G SNV Benign 361163 rs3907099 8:103219363-103219363 8:102207135-102207135 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*732A>G SNV Benign 361169 rs16869269 8:103219629-103219629 8:102207401-102207401 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*2675A>G SNV Benign 361141 rs3735720 8:103217686-103217686 8:102205458-102205458 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*2666T>C SNV Benign 361142 rs3735721 8:103217695-103217695 8:102205467-102205467 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*3593G>A SNV Benign 361124 rs29000294 8:103216768-103216768 8:102204540-102204540 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*3527G>A SNV Benign 361126 rs1052071 8:103216834-103216834 8:102204606-102204606 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*3395C>G SNV Benign 361129 rs11575866 8:103216966-103216966 8:102204738-102204738 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.*1601A>G SNV Benign 361157 rs140164634 8:103218760-103218760 8:102206532-102206532 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.423C>T (p.Val141=) SNV Benign 138929 rs28999710 8:103238260-103238260 8:102226032-102226032 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 RRM2B NM_001172477.1(RRM2B):c.1006-8C>A SNV Benign 138930 rs376542259 8:103225125-103225125 8:102212897-102212897 PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 DNA2 DNA2, ARG284HIS SNV Pathogenic 41477 PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 DNA2 DNA2, LYS313GLU SNV Pathogenic 41478 PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 DNA2 NM_001080449.3(DNA2):c.1909G>A (p.Val637Ile) SNV Pathogenic 41479 10:70191693-70191693 10:68431936-68431936 PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 DNA2 NM_001080449.3(DNA2):c.3014C>T (p.Thr1005Ile) SNV Likely pathogenic 522960 rs376624048 10:70176566-70176566 10:68416809-68416809 PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 DNA2 NM_001080449.3(DNA2):c.1919C>T (p.Ser640Leu) SNV Likely pathogenic 807407 10:70191683-70191683 10:68431926-68431926 PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 POLG NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) SNV Pathogenic 13496 rs113994095 15:89870432-89870432 15:89327201-89327201 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.8G>C (p.Arg3Pro) SNV Pathogenic 13498 rs121918045 15:89876978-89876978 15:89333747-89333747 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_001126131.2(POLG):c.2542G>A (p.Gly848Ser) SNV Pathogenic 13502 rs113994098 15:89865023-89865023 15:89321792-89321792 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) SNV Pathogenic/Likely pathogenic 13513 rs121918054 15:89866691-89866691 15:89323460-89323460 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.911T>G (p.Leu304Arg) SNV Pathogenic/Likely pathogenic 13497 rs121918044 15:89872286-89872286 15:89329055-89329055 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.3(POLG):c.3286C>T SNV Pathogenic/Likely pathogenic 206556 rs201732356 15:89861968-89861968 15:89318737-89318737 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.915C>G (p.Ser305Arg) SNV Pathogenic/Likely pathogenic 206588 rs769410130 15:89872282-89872282 15:89329051-89329051 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) SNV Conflicting interpretations of pathogenicity 206596 rs145843073 15:89870429-89870429 15:89327198-89327198 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.328C>T (p.His110Tyr) SNV Conflicting interpretations of pathogenicity 206619 rs139599587 15:89876658-89876658 15:89333427-89333427 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.3075G>A (p.Leu1025=) SNV Conflicting interpretations of pathogenicity 239380 rs146404260 15:89862488-89862488 15:89319257-89319257 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.2419C>T (p.Arg807Cys) SNV Conflicting interpretations of pathogenicity 279982 rs769827124 15:89865980-89865980 15:89322749-89322749 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.2021G>A (p.Gly674Asp) SNV Conflicting interpretations of pathogenicity 206462 rs200257554 15:89867387-89867387 15:89324156-89324156 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.2554C>T (p.Arg852Cys) SNV Conflicting interpretations of pathogenicity 206528 rs144500145 15:89865011-89865011 15:89321780-89321780 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.2207A>G (p.Asn736Ser) SNV Conflicting interpretations of pathogenicity 206516 rs138457939 15:89866693-89866693 15:89323462-89323462 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.2601T>C (p.Pro867=) SNV Conflicting interpretations of pathogenicity 138750 rs201749977 15:89864489-89864489 15:89321258-89321258 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.3482+6C>T SNV Conflicting interpretations of pathogenicity 138760 rs55779802 15:89861766-89861766 15:89318535-89318535 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.1837C>T (p.His613Tyr) SNV Conflicting interpretations of pathogenicity 193643 rs147407423 15:89868793-89868793 15:89325562-89325562 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.32G>A (p.Gly11Asp) SNV Conflicting interpretations of pathogenicity 195182 rs765472726 15:89876954-89876954 15:89333723-89333723 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.803G>C (p.Gly268Ala) SNV Conflicting interpretations of pathogenicity 196354 rs61752784 15:89873364-89873364 15:89330133-89330133 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.1174C>G (p.Leu392Val) SNV Conflicting interpretations of pathogenicity 198151 rs145289229 15:89871763-89871763 15:89328532-89328532 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.2027C>T (p.Ala676Val) SNV Conflicting interpretations of pathogenicity 451086 rs376306906 15:89867381-89867381 15:89324150-89324150 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.3667A>G (p.Ile1223Val) SNV Conflicting interpretations of pathogenicity 458718 rs148786642 15:89860035-89860035 15:89316804-89316804 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.1276G>A (p.Gly426Ser) SNV Conflicting interpretations of pathogenicity 458687 rs775576189 15:89870555-89870555 15:89327324-89327324 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) SNV Conflicting interpretations of pathogenicity 65665 rs61752783 15:89870178-89870178 15:89326947-89326947 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) SNV Conflicting interpretations of pathogenicity 13505 rs113994096 15:89868870-89868870 15:89325639-89325639 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) SNV Conflicting interpretations of pathogenicity 13503 rs113994094 15:89873415-89873415 15:89330184-89330184 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.2557C>T (p.Arg853Trp) SNV Uncertain significance 13512 rs121918053 15:89865008-89865008 15:89321777-89321777 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.3131T>C (p.Val1044Ala) SNV Uncertain significance 129994 rs150233690 15:89862304-89862304 15:89319073-89319073 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.1882C>T (p.Arg628Trp) SNV Uncertain significance 458698 rs754245040 15:89868748-89868748 15:89325517-89325517 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.3317T>C (p.Val1106Ala) SNV Uncertain significance 522129 rs1354582663 15:89861937-89861937 15:89318706-89318706 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.2069C>T (p.Thr690Met) SNV Uncertain significance 579888 rs201677865 15:89867339-89867339 15:89324108-89324108 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.260T>C (p.Ile87Thr) SNV Uncertain significance 585152 rs776347449 15:89876726-89876726 15:89333495-89333495 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.2466C>G (p.Pro822=) SNV Uncertain significance 625997 rs1235161601 15:89865207-89865207 15:89321976-89321976 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.729C>A (p.Asp243Glu) SNV Uncertain significance 452496 rs757917194 15:89873438-89873438 15:89330207-89330207 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 FANCI NM_002693.2(POLG):c.3650C>T (p.Ala1217Val) SNV Uncertain significance 206575 rs199751339 15:89860052-89860052 15:89316821-89316821 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.3650C>T (p.Ala1217Val) SNV Uncertain significance 206575 rs199751339 15:89860052-89860052 15:89316821-89316821 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.3505G>A (p.Gly1169Ser) SNV Uncertain significance 206568 rs753864625 15:89860745-89860745 15:89317514-89317514 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.3323A>T (p.Tyr1108Phe) SNV Uncertain significance 206475 rs765949668 15:89861931-89861931 15:89318700-89318700 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.3176A>G (p.Asn1059Ser) SNV Uncertain significance 195487 rs201192905 15:89862259-89862259 15:89319028-89319028 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.3425G>A (p.Arg1142Gln) SNV Uncertain significance 195591 rs536732038 15:89861829-89861829 15:89318598-89318598 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.2085T>G (p.Asp695Glu) SNV Uncertain significance 206509 rs776848222 15:89867118-89867118 15:89323887-89323887 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.2059A>G (p.Ile687Val) SNV Uncertain significance 206508 rs796052881 15:89867349-89867349 15:89324118-89324118 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.1570C>G (p.Pro524Ala) SNV Uncertain significance 206631 rs577476988 15:89870158-89870158 15:89326927-89326927 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.3098C>T (p.Ala1033Val) SNV Uncertain significance 206470 rs551708243 15:89862465-89862465 15:89319234-89319234 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.3076C>T (p.Arg1026Cys) SNV Uncertain significance 206546 rs760043525 15:89862487-89862487 15:89319256-89319256 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.3204C>G (p.Asp1068Glu) SNV Uncertain significance 388649 rs1057523186 15:89862231-89862231 15:89319000-89319000 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.1328G>A (p.Arg443His) SNV Uncertain significance 206593 rs796052903 15:89870503-89870503 15:89327272-89327272 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.862C>T (p.Arg288Cys) SNV Uncertain significance 206586 rs564582352 15:89872335-89872335 15:89329104-89329104 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.2(POLG):c.2468G>A (p.Arg823His) SNV Uncertain significance 448102 rs751172552 15:89865205-89865205 15:89321974-89321974 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 FANCI NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) SNV Benign/Likely benign 21312 rs2307441 15:89861826-89861826 15:89318595-89318595 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 POLG NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) SNV Benign/Likely benign 21312 rs2307441 15:89861826-89861826 15:89318595-89318595 PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 RNASEH1 NM_002936.6(RNASEH1):c.424G>A (p.Val142Ile) SNV Pathogenic 372197 rs766294940 2:3598048-3598048 2:3550458-3550458 PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 RNASEH1 NM_002936.6(RNASEH1):c.469C>T (p.Arg157Ter) SNV Pathogenic 372198 rs373442996 2:3598003-3598003 2:3550413-3550413 PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 RNASEH1 NM_002936.6(RNASEH1):c.554C>T (p.Ala185Val) SNV Pathogenic 372199 rs1057517675 2:3596658-3596658 2:3549068-3549068 PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 TK2 NM_004614.5(TK2):c.547C>T (p.Arg183Trp) SNV Pathogenic 38992 rs137886900 16:66551110-66551110 16:66517207-66517207 PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 TK2 NM_004614.5(TK2):c.562A>G (p.Thr188Ala) SNV Pathogenic 38993 rs281865495 16:66551095-66551095 16:66517192-66517192 PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 TK2 NM_004614.5(TK2):c.173A>G (p.Asn58Ser) SNV Pathogenic/Likely pathogenic 38978 rs138439950 16:66575840-66575840 16:66541937-66541937 PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 TK2 NM_004614.5(TK2):c.416C>T (p.Ala139Val) SNV Pathogenic/Likely pathogenic 38990 rs281865494 16:66562930-66562930 16:66529027-66529027 PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 DGUOK NM_080916.3(DGUOK):c.591G>A (p.Gln197=) SNV Pathogenic 214286 rs748597500 2:74177859-74177859 2:73950732-73950732 PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 DGUOK NM_080916.3(DGUOK):c.603_604GA[1] (p.Arg202fs) short repeat Pathogenic 214288 rs863223949 2:74184262-74184263 2:73957135-73957136 PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 DGUOK NM_080916.3(DGUOK):c.130G>A (p.Glu44Lys) SNV Pathogenic 253066 rs762550967 2:74154167-74154167 2:73927040-73927040 PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 DGUOK NM_080916.3(DGUOK):c.186C>A (p.Tyr62Ter) SNV Pathogenic 253068 rs879255617 2:74166080-74166080 2:73938953-73938953 PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 DGUOK NM_080916.3(DGUOK):c.444-11C>G SNV Pathogenic/Likely pathogenic 253069 rs536746349 2:74177701-74177701 2:73950574-73950574 PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 DGUOK NM_080916.3(DGUOK):c.137A>G (p.Asn46Ser) SNV Pathogenic/Likely pathogenic 253062 rs763615602 2:74154174-74154174 2:73927047-73927047 PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 DGUOK NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys) SNV Conflicting interpretations of pathogenicity 214285 rs144181978 2:74177730-74177730 2:73950603-73950603 PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 DGUOK NM_080916.3(DGUOK):c.155C>G (p.Ser52Cys) SNV Uncertain significance 638350 2:74166049-74166049 2:73938922-73938922 PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 DGUOK NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) SNV Benign/Likely benign 137082 rs74874677 2:74177777-74177777 2:73950650-73950650 PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 TOP3A NM_004618.5(TOP3A):c.403C>T (p.Arg135Ter) SNV Pathogenic 446286 rs200944917 17:18208522-18208522 17:18305208-18305208 PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 TOP3A NM_004618.5(TOP3A):c.298A>G (p.Met100Val) SNV Pathogenic 446285 rs376902371 17:18211681-18211681 17:18308367-18308367 PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 TOP3A NM_004618.5(TOP3A):c.899_900del (p.Tyr300fs) deletion Likely pathogenic 636247 17:18205214-18205215 17:18301900-18301901 PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 TOP3A NM_004618.5(TOP3A):c.1723A>G (p.Met575Val) SNV Uncertain significance 636248 17:18188610-18188610 17:18285296-18285296 PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 TCF20 NM_005650.3(TCF20):c.3605dup (p.Pro1203fs) duplication Pathogenic 590777 rs1569146993 22:42607706-42607707 22:42211700-42211701 PTS002 Ptosis SIL1 NC_000005.10:g.139189727_139201554del deletion Pathogenic 812923 5:138525416-138537243 PTS002 Ptosis RYR1 NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) SNV Pathogenic 12977 rs118192177 19:38986923-38986923 19:38496283-38496283 PTS002 Ptosis PTPN11 NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) SNV Pathogenic 40513 rs397507520 12:112891083-112891083 12:112453279-112453279 PTS002 Ptosis SOS1 NM_005633.3(SOS1):c.1300G>A (p.Gly434Arg) SNV Pathogenic 40672 rs397517148 2:39250269-39250269 2:39023128-39023128 PTS002 Ptosis IGHMBP2 NM_002180.2(IGHMBP2):c.92G>A (p.Trp31Ter) SNV Pathogenic 242499 rs863224880 11:68673542-68673542 11:68906074-68906074 PTS002 Ptosis ANKRD11 NM_013275.6(ANKRD11):c.1898_1902AAACA[1] (p.Lys635fs) short repeat Pathogenic/Likely pathogenic 279678 rs886041125 16:89351043-89351047 16:89284635-89284639 PTS002 Ptosis SYNGAP1 NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter) SNV Pathogenic/Likely pathogenic 411584 rs1060503383 6:33409095-33409095 6:33441318-33441318 PTS002 Ptosis DMD NM_004006.2(DMD):c.10247G>A (p.Trp3416Ter) SNV Pathogenic/Likely pathogenic 374132 rs201217593 X:31196064-31196064 X:31177947-31177947 PTS002 Ptosis TRNN NC_012920.1:m.5702A>G SNV Likely pathogenic 812543 MT:5702-5702 MT:5702-5702 PTS002 Ptosis CHRND NM_000751.3(CHRND):c.822del (p.Ser274fs) deletion Likely pathogenic 374186 rs1057518958 2:233396063-233396063 2:232531353-232531353 PTS002 Ptosis CHRND NM_000751.3(CHRND):c.1385G>T (p.Trp462Leu) SNV Likely pathogenic 374185 rs1057518957 2:233399853-233399853 2:232535143-232535143 PTS002 Ptosis GLI3 NM_000168.6(GLI3):c.1622C>T (p.Thr541Met) SNV Likely pathogenic 627565 7:42018223-42018223 7:41978624-41978624 PTS002 Ptosis OPA1 NM_001354663.2(OPA1):c.-260_-243del deletion Conflicting interpretations of pathogenicity 214916 rs863224140 3:193332587-193332604 3:193614798-193614815 PTS002 Ptosis VTI1B GRCh37/hg19 14q24.1(chr14:68126321-68269053)x3 copy number gain Uncertain significance 635772 14:68110557-68283783 PTS002 Ptosis ZFYVE26 GRCh37/hg19 14q24.1(chr14:68126321-68269053)x3 copy number gain Uncertain significance 635772 14:68110557-68283783 PTS002 Ptosis ARG2 GRCh37/hg19 14q24.1(chr14:68126321-68269053)x3 copy number gain Uncertain significance 635772 14:68110557-68283783 PTS002 Ptosis RDH11 GRCh37/hg19 14q24.1(chr14:68126321-68269053)x3 copy number gain Uncertain significance 635772 14:68110557-68283783 PTS002 Ptosis RDH12 GRCh37/hg19 14q24.1(chr14:68126321-68269053)x3 copy number gain Uncertain significance 635772 14:68110557-68283783 PTS002 Ptosis ND1 NC_012920.1:m.3670G>A SNV Uncertain significance 692386 MT:3670-3670 MT:3670-3670 PTS002 Ptosis MYO15A NM_016239.4(MYO15A):c.7124_7127del (p.Asp2375fs) deletion Pathogenic 435919 rs780170125 17:18052803-18052806 17:18149489-18149492 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) SNV Pathogenic 438002 rs780308389 1:216498735-216498735 1:216325393-216325393 RRG078 Rare Genetic Deafness ADGRV1 NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter) SNV Pathogenic 438168 rs777309662 5:90074375-90074375 5:90778558-90778558 RRG078 Rare Genetic Deafness MYO15A NM_016239.4(MYO15A):c.7184_7185del (p.Leu2394_Phe2395insTer) deletion Pathogenic 451626 rs1415858976 17:18052865-18052866 17:18149551-18149552 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) SNV Pathogenic 497414 rs534534437 1:216462717-216462717 1:216289375-216289375 RRG078 Rare Genetic Deafness TECTA NM_005422.2(TECTA):c.4085G>A (p.Trp1362Ter) SNV Pathogenic 498538 rs199638531 11:121016805-121016805 11:121146096-121146096 RRG078 Rare Genetic Deafness USH2A NM_206933.2(USH2A):c.11048-?_11711+?dup duplication Pathogenic 503553 1:215914717-215933185 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter) SNV Pathogenic 504513 rs199679165 1:216270538-216270538 1:216097196-216097196 RRG078 Rare Genetic Deafness PAX3 NM_181458.4(PAX3):c.879dup (p.Phe294fs) duplication Pathogenic 505425 rs1553572967 2:223086019-223086020 2:222221300-222221301 RRG078 Rare Genetic Deafness PAX3 NM_181458.4(PAX3):c.873dup (p.Gly292fs) duplication Pathogenic 517263 rs1553572976 2:223086025-223086026 2:222221306-222221307 RRG078 Rare Genetic Deafness GRXCR1 NM_001080476.2(GRXCR1):c.590_593CCCT[3] (p.Val200fs) short repeat Pathogenic 504921 rs1553941938 4:42965112-42965113 4:42963095-42963096 RRG078 Rare Genetic Deafness USH2A NM_206933.3(USH2A):c.11241C>A (p.Tyr3747Ter) SNV Pathogenic 506273 rs777465132 1:215932085-215932085 1:215758743-215758743 RRG078 Rare Genetic Deafness WFS1 NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn) SNV Pathogenic 517360 rs1553879004 4:6303911-6303911 4:6302184-6302184 RRG078 Rare Genetic Deafness ADGRV1 NM_032119.4(ADGRV1):c.2302G>T (p.Glu768Ter) SNV Pathogenic 504947 rs1554068885 5:89938514-89938514 5:90642697-90642697 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.9176del (p.Pro3059fs) deletion Pathogenic 517317 rs1554877806 10:73571169-73571169 10:71811412-71811412 RRG078 Rare Genetic Deafness MITF NM_001354604.2(MITF):c.773_785dup (p.Asp263fs) duplication Pathogenic 505620 rs1553703619 3:69998210-69998211 3:69949059-69949060 RRG078 Rare Genetic Deafness EYA1 NM_000503.6(EYA1):c.241C>T (p.Gln81Ter) SNV Pathogenic 504996 rs1554550637 8:72234465-72234465 8:71322230-71322230 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.2289+1G>A SNV Pathogenic 504507 rs769433759 10:73454017-73454017 10:71694260-71694260 RRG078 Rare Genetic Deafness TECTA NM_005422.2(TECTA):c.2139C>A (p.Cys713Ter) SNV Pathogenic 505476 rs768295360 11:120998825-120998825 11:121128116-121128116 RRG078 Rare Genetic Deafness TMC1 NM_138691.3(TMC1):c.236+1G>A SNV Pathogenic 504715 rs775428246 9:75309631-75309631 9:72694715-72694715 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.8064+1G>T SNV Pathogenic 517297 rs1474524543 10:73565755-73565755 10:71805998-71805998 RRG078 Rare Genetic Deafness TECTA NM_005422.2(TECTA):c.5754_5755del (p.Val1918_Ile1919insTer) deletion Pathogenic 505042 rs1555129231 11:121039389-121039390 11:121168680-121168681 RRG078 Rare Genetic Deafness OTOA NM_144672.3(OTOA):c.(?_-46)_(2431_?)+58del deletion Pathogenic 505764 16:21689790-21747769 16:21678469-21736448 RRG078 Rare Genetic Deafness MYO15A NM_016239.4(MYO15A):c.3026del (p.Pro1009fs) deletion Pathogenic 506256 rs1555539827 17:18025137-18025137 17:18121823-18121823 RRG078 Rare Genetic Deafness MYO15A NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter) SNV Pathogenic 505802 rs748868741 17:18025499-18025499 17:18122185-18122185 RRG078 Rare Genetic Deafness OTOGL NM_173591.3(OTOGL):c.(?_6305)-71_*(79_?)del deletion Pathogenic 517528 12:80761270-80771907 12:80367490-80378127 RRG078 Rare Genetic Deafness OTOGL NM_173591.3(OTOGL):c.3054dup (p.Leu1019fs) duplication Pathogenic 505260 rs764178233 12:80696424-80696425 12:80302644-80302645 RRG078 Rare Genetic Deafness STRC NM_153700.2(STRC):c.379C>T (p.Arg127Ter) SNV Pathogenic 505325 rs771264491 15:43910240-43910240 15:43618042-43618042 RRG078 Rare Genetic Deafness MYO15A NM_016239.4(MYO15A):c.996C>G (p.Tyr332Ter) SNV Pathogenic 505185 rs759523751 17:18023110-18023110 17:18119796-18119796 RRG078 Rare Genetic Deafness TMPRSS3 NM_001256317.3(TMPRSS3):c.579dup (p.Cys194fs) duplication Pathogenic 517148 rs397517376 21:43804115-43804116 21:42384006-42384007 RRG078 Rare Genetic Deafness LOXHD1 NM_144612.6(LOXHD1):c.3148G>T (p.Glu1050Ter) SNV Pathogenic 505330 rs1555679863 18:44139479-44139479 18:46559516-46559516 RRG078 Rare Genetic Deafness OTOGL NC_000012.12:g.(?_80278170)_(80336529_?)del deletion Pathogenic 505207 12:80671950-80730309 12:80278170-80336529 RRG078 Rare Genetic Deafness OTOGL NM_173591.3(OTOGL):c.5314del (p.Ser1772fs) deletion Pathogenic 505326 rs772723774 12:80746148-80746148 12:80352368-80352368 RRG078 Rare Genetic Deafness OTOA NM_144672.4(OTOA):c.268-2A>G SNV Pathogenic 505849 rs770892393 16:21696549-21696549 16:21685228-21685228 RRG078 Rare Genetic Deafness MYO15A NM_016239.4(MYO15A):c.2311del (p.Ser771fs) deletion Pathogenic 504879 rs754865266 17:18024425-18024425 17:18121111-18121111 RRG078 Rare Genetic Deafness MYO15A NM_016239.4(MYO15A):c.8341-2A>C SNV Pathogenic 517420 rs778404517 17:18058626-18058626 17:18155312-18155312 RRG078 Rare Genetic Deafness SOX10 NM_006941.4(SOX10):c.426G>A (p.Trp142Ter) SNV Pathogenic 505252 rs1555939403 22:38379366-38379366 22:37983359-37983359 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter) SNV Pathogenic 504505 rs1555051455 11:76853788-76853788 11:77142742-77142742 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter) SNV Pathogenic 504508 rs782539587 11:76872076-76872076 11:77161030-77161030 RRG078 Rare Genetic Deafness USH2A NM_206933.3(USH2A):c.7524del (p.Arg2509fs) deletion Pathogenic 517494 rs751176116 1:216073487-216073487 1:215900145-215900145 RRG078 Rare Genetic Deafness USH2A NM_206933.3(USH2A):c.2610C>A (p.Cys870Ter) SNV Pathogenic 557167 rs767078782 1:216420126-216420126 1:216246784-216246784 RRG078 Rare Genetic Deafness PAX3 NM_181458.4(PAX3):c.1166C>G (p.Ser389Ter) SNV Pathogenic 667018 2:223084866-223084866 2:222220147-222220147 RRG078 Rare Genetic Deafness OTOF NM_194248.3(OTOF):c.3864+1G>A SNV Pathogenic 667426 2:26695386-26695386 2:26472518-26472518 RRG078 Rare Genetic Deafness ADGRV1 NM_032119.4(ADGRV1):c.8620C>T (p.Gln2874Ter) SNV Pathogenic 666993 5:90002101-90002101 5:90706284-90706284 RRG078 Rare Genetic Deafness STRC NM_153700.2(STRC):c.4375+1G>A SNV Pathogenic 666997 15:43896193-43896193 15:43603995-43603995 RRG078 Rare Genetic Deafness STRC NM_153700.2(STRC):c.259C>T (p.Gln87Ter) SNV Pathogenic 666998 15:43910360-43910360 15:43618162-43618162 RRG078 Rare Genetic Deafness PAX3 NC_000002.12:g.(?_222201051)_(222295679_?)del deletion Pathogenic 667019 2:223065770-223160398 RRG078 Rare Genetic Deafness ADGRV1 NC_000005.10:g.(?_90614729)_(90784051_?)del deletion Pathogenic 666992 5:89910546-90079868 RRG078 Rare Genetic Deafness TMC1 NM_138691.2:c.(?_-52-7)_(16+6_?)del deletion Pathogenic 666999 9:75263506-75263586 RRG078 Rare Genetic Deafness CATSPER2 NC_000015.10:g.(?_43638998)_(43639062_?)del deletion Pathogenic 667392 15:43931196-43931260 RRG078 Rare Genetic Deafness LRTOMT NM_001145308.4(LRTOMT):c.242G>A (p.Arg81Gln) SNV Pathogenic 543 rs137853185 11:71817140-71817140 11:72106094-72106094 RRG078 Rare Genetic Deafness PJVK NM_001042702.5(PJVK):c.499C>T (p.Arg167Ter) SNV Pathogenic 1300 rs118203989 2:179320828-179320828 2:178456101-178456101 RRG078 Rare Genetic Deafness USH2A NM_007123.5(USH2A):c.2898del (p.Thr967fs) deletion Pathogenic 2352 rs397518008 1:216405390-216405390 1:216232048-216232048 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) SNV Pathogenic 2357 rs111033364 1:215901574-215901574 1:215728232-215728232 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.949C>A (p.Arg317=) SNV Pathogenic 2358 rs111033272 1:216498841-216498841 1:216325499-216325499 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) SNV Pathogenic 2359 rs121912600 1:216497582-216497582 1:216324240-216324240 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) SNV Pathogenic 2361 rs111033334 1:216420527-216420527 1:216247185-216247185 RRG078 Rare Genetic Deafness USH2A NM_206933.3(USH2A):c.4334_4335CT[2] (p.Cys1447fs) short repeat Pathogenic 2353 rs111033367 1:216363622-216363623 1:216190280-216190281 RRG078 Rare Genetic Deafness TMC1 NM_138691.3(TMC1):c.100C>T (p.Arg34Ter) SNV Pathogenic 4103 rs121908073 9:75309494-75309494 9:72694578-72694578 RRG078 Rare Genetic Deafness CLRN1 NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter) SNV Pathogenic 4392 rs121908140 3:150645894-150645894 3:150928107-150928107 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) SNV Pathogenic 43510 rs111033308 7:107336429-107336429 7:107695984-107695984 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) SNV Pathogenic 4817 rs80338848 7:107315496-107315496 7:107675051-107675051 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) SNV Pathogenic 4818 rs28939086 7:107330665-107330665 7:107690220-107690220 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.1001+1G>A SNV Pathogenic 4819 rs80338849 7:107323983-107323983 7:107683538-107683538 RRG078 Rare Genetic Deafness CLRN1 NM_001195794.1(CLRN1):c.189C>A (p.Tyr63Ter) SNV Pathogenic 4397 rs111033267 3:150690307-150690307 3:150972520-150972520 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) SNV Pathogenic 4821 rs111033303 7:107315415-107315415 7:107674970-107674970 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) SNV Pathogenic 4826 rs121908363 7:107350571-107350571 7:107710126-107710126 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) SNV Pathogenic 4829 rs111033307 7:107334918-107334918 7:107694473-107694473 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) SNV Pathogenic 4835 rs111033199 7:107312690-107312690 7:107672245-107672245 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) SNV Pathogenic 4839 rs111033205 7:107302171-107302171 7:107661726-107661726 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.919-2A>G SNV Pathogenic 4840 rs111033313 7:107323898-107323898 7:107683453-107683453 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) SNV Pathogenic 4916 rs111033270 10:73539073-73539073 10:71779316-71779316 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.7362+5G>A SNV Pathogenic 4918 rs727502931 10:73559391-73559391 10:71799634-71799634 RRG078 Rare Genetic Deafness PCDH15 NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) SNV Pathogenic 4933 rs111033260 10:56077174-56077174 10:54317414-54317414 RRG078 Rare Genetic Deafness USH1C NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) duplication Pathogenic 5141 rs397515359 11:17552955-17552956 11:17531408-17531409 RRG078 Rare Genetic Deafness USH1C NM_153676.4(USH1C):c.216G>A (p.Val72=) SNV Pathogenic 5143 rs151045328 11:17552978-17552978 11:17531431-17531431 RRG078 Rare Genetic Deafness OTOF NM_194248.3(OTOF):c.4491T>A (p.Tyr1497Ter) SNV Pathogenic 6133 rs80356600 2:26689591-26689591 2:26466723-26466723 RRG078 Rare Genetic Deafness OTOF NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter) SNV Pathogenic 6137 rs80356593 2:26700078-26700078 2:26477210-26477210 RRG078 Rare Genetic Deafness KCNQ4 NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser) SNV Pathogenic 6241 rs28937588 1:41285565-41285565 1:40819893-40819893 RRG078 Rare Genetic Deafness KCNQ4 NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser) SNV Pathogenic 6242 rs80358277 1:41285137-41285137 1:40819465-40819465 RRG078 Rare Genetic Deafness COCH NM_004086.3(COCH):c.151C>T (p.Pro51Ser) SNV Pathogenic 6611 rs28938175 14:31346846-31346846 14:30877640-30877640 RRG078 Rare Genetic Deafness COCH NM_004086.3(COCH):c.1625G>T (p.Cys542Phe) SNV Pathogenic 6614 rs121908932 14:31358969-31358969 14:30889763-30889763 RRG078 Rare Genetic Deafness EYA1 NM_000503.6(EYA1):c.922C>T (p.Arg308Ter) SNV Pathogenic 7929 rs121909195 8:72184037-72184037 8:71271802-71271802 RRG078 Rare Genetic Deafness EYA1 NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln) SNV Pathogenic 7935 rs121909196 8:72128968-72128968 8:71216733-71216733 RRG078 Rare Genetic Deafness MYO6 NM_004999.4(MYO6):c.2545C>T (p.Arg849Ter) SNV Pathogenic 8582 rs121912561 6:76596598-76596598 6:75886881-75886881 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter) SNV Pathogenic 11859 rs35689081 11:76853829-76853829 11:77142783-77142783 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter) SNV Pathogenic 11860 rs121965085 11:76885862-76885862 11:77174816-77174816 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.101T>C (p.Met34Thr) SNV Pathogenic 17000 rs35887622 13:20763620-20763620 13:20189481-20189481 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) SNV Pathogenic 17001 rs80338944 13:20763490-20763490 13:20189351-20189351 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.448C>T (p.Arg150Ter) SNV Pathogenic 11847 rs121965079 11:76867115-76867115 11:77156069-77156069 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter) SNV Pathogenic 11848 rs41298133 11:76868015-76868015 11:77156969-77156969 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) SNV Pathogenic 17002 rs104894396 13:20763650-20763650 13:20189511-20189511 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) SNV Pathogenic 17003 rs104894397 13:20763492-20763492 13:20189353-20189353 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.35del (p.Gly12fs) deletion Pathogenic 17004 rs80338939 13:20763686-20763686 13:20189547-20189547 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) SNV Pathogenic 17005 rs104894398 13:20763582-20763582 13:20189443-20189443 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.355_357GAG[1] (p.Glu120del) short repeat Pathogenic 17006 rs80338947 13:20763361-20763363 13:20189222-20189224 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) SNV Pathogenic 17009 rs80338948 13:20763294-20763294 13:20189155-20189155 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr) SNV Pathogenic 43553 rs111033302 7:107302088-107302088 7:107661643-107661643 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.167del (p.Leu56fs) deletion Pathogenic 17010 rs80338942 13:20763554-20763554 13:20189415-20189415 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) SNV Pathogenic 17027 rs28931593 13:20763497-20763497 13:20189358-20189358 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) SNV Pathogenic 17011 rs104894402 13:20763498-20763498 13:20189359-20189359 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.235del (p.Leu79fs) deletion Pathogenic 17014 rs80338943 13:20763486-20763486 13:20189347-20189347 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.109G>A (p.Val37Ile) SNV Pathogenic 17023 rs72474224 13:20763612-20763612 13:20189473-20189473 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.-23+1G>A SNV Pathogenic 17029 rs80338940 13:20766921-20766921 13:20192782-20192782 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.250G>A (p.Val84Met) SNV Pathogenic 17036 rs104894409 13:20763471-20763471 13:20189332-20189332 RRG078 Rare Genetic Deafness MYO15A NM_016239.4(MYO15A):c.8767C>T (p.Arg2923Ter) SNV Pathogenic 45771 rs373462792 17:18060523-18060523 17:18157209-18157209 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.5712G>A (p.Thr1904=) SNV Pathogenic 45989 rs397517342 10:73544857-73544857 10:71785100-71785100 RRG078 Rare Genetic Deafness ADGRV1 NM_032119.4(ADGRV1):c.7406G>A (p.Trp2469Ter) SNV Pathogenic 46371 rs397517436 5:89989979-89989979 5:90694162-90694162 RRG078 Rare Genetic Deafness OTOF NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) SNV Pathogenic 21831 rs80356590 2:26702224-26702224 2:26479356-26479356 RRG078 Rare Genetic Deafness OTOF NM_194248.3(OTOF):c.2348del (p.Gly783fs) deletion Pathogenic 21834 rs80356591 2:26700342-26700342 2:26477474-26477474 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.9159T>G (p.Tyr3053Ter) SNV Pathogenic 48613 rs397518042 1:216017735-216017735 1:215844393-215844393 RRG078 Rare Genetic Deafness TRNS1 m.7471_7472insC duplication Pathogenic 42226 rs111033319 MT:7465-7466 MT:7465-7466 RRG078 Rare Genetic Deafness MYO7A NM_000260.3(MYO7A):c.1556delG (p.Gly519Alafs) deletion Pathogenic 43152 rs606231379 11:76873898-76873898 11:77162852-77162852 RRG078 Rare Genetic Deafness WFS1 NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) SNV Pathogenic 30556 rs387906930 4:6303573-6303573 4:6301846-6301846 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.1344-2A>G SNV Pathogenic 43143 rs111033415 11:76873164-76873164 11:77162118-77162118 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.141G>A (p.Trp47Ter) SNV Pathogenic 43146 rs397516285 11:76858852-76858852 11:77147806-77147806 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter) SNV Pathogenic 43164 rs111033180 11:76883896-76883896 11:77172850-77172850 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.1963C>T (p.Gln655Ter) SNV Pathogenic 43167 rs397516291 11:76885829-76885829 11:77174783-77174783 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.2094+1G>A SNV Pathogenic 43171 rs111033404 11:76885961-76885961 11:77174915-77174915 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.2172del (p.Lys725fs) deletion Pathogenic 43174 rs397516294 11:76886494-76886494 11:77175448-77175448 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.2283-1G>T SNV Pathogenic 43178 rs397516295 11:76890090-76890090 11:77179044-77179044 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp) SNV Pathogenic 43196 rs111033233 11:76892635-76892635 11:77181589-77181589 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.3327del (p.His1109fs) deletion Pathogenic 43202 rs111033433 11:76894154-76894154 11:77183109-77183109 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.3696_3706del (p.Arg1232fs) deletion Pathogenic 43217 rs397516303 11:76901130-76901140 11:77190084-77190094 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) SNV Pathogenic 43218 rs111033178 11:76901153-76901153 11:77190108-77190108 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.3728dup (p.Pro1244fs) duplication Pathogenic 43219 rs397516304 11:76901160-76901161 11:77190115-77190116 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.494C>T (p.Thr165Met) SNV Pathogenic 43264 rs111033174 11:76867729-76867729 11:77156683-77156683 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.496del (p.Glu166fs) deletion Pathogenic 43266 rs111033448 11:76867730-76867730 11:77156684-77156684 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.5392C>T (p.Gln1798Ter) SNV Pathogenic 43282 rs397516317 11:76915186-76915186 11:77204141-77204141 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) SNV Pathogenic 43292 rs397516322 11:76916644-76916644 11:77205599-77205599 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.5581dup (p.Arg1861fs) duplication Pathogenic 43289 rs397516320 11:76916604-76916605 11:77205559-77205560 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.582del (p.Ile195fs) deletion Pathogenic 43301 rs111033238 11:76867813-76867813 11:77156767-77156767 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.6025del (p.Ala2009fs) deletion Pathogenic 43313 rs397516326 11:76919821-76919821 11:77208776-77208776 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.6029A>G (p.Asp2010Gly) SNV Pathogenic 43314 rs111033175 11:76919826-76919826 11:77208781-77208781 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter) SNV Pathogenic 43318 rs111033198 11:76922215-76922215 11:77211170-77211170 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.6498C>A (p.Tyr2166Ter) SNV Pathogenic 43330 rs397516331 11:76924964-76924964 11:77213919-77213919 RRG078 Rare Genetic Deafness POU3F4 NM_000307.5(POU3F4):c.499C>T (p.Arg167Ter) SNV Pathogenic 43347 rs111033345 X:82763831-82763831 X:83508823-83508823 RRG078 Rare Genetic Deafness POU3F4 NM_000307.5(POU3F4):c.853_854del (p.Ile285fs) deletion Pathogenic 43352 rs397516336 X:82764185-82764186 X:83509177-83509178 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.1149+3A>G SNV Pathogenic 43493 rs111033314 7:107329648-107329648 7:107689203-107689203 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter) SNV Pathogenic 43345 rs111033285 11:76869472-76869472 11:77158426-77158426 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met) SNV Pathogenic 43495 rs397516414 7:107330623-107330623 7:107690178-107690178 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) SNV Pathogenic 43496 rs111033305 7:107330645-107330645 7:107690200-107690200 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) SNV Pathogenic 43498 rs111033220 7:107330648-107330648 7:107690203-107690203 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.1341+1del deletion Pathogenic 43505 rs397516417 7:107334925-107334925 7:107694480-107694480 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.1(SLC26A4):c.1342-2_1343dup duplication Pathogenic 43506 rs111033407 7:107335064-107335067 7:107694617-107694618 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) SNV Pathogenic 43511 rs111033316 7:107336481-107336481 7:107696036-107696036 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.1614+1G>A SNV Pathogenic 43516 rs111033312 7:107338557-107338557 7:107698112-107698112 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.164+2T>C SNV Pathogenic 43518 rs397516420 7:107302252-107302252 7:107661807-107661807 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.2188C>T (p.Gln730Ter) SNV Pathogenic 43542 rs397516428 7:107350597-107350597 7:107710152-107710152 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.294_298del (p.Thr99fs) deletion Pathogenic 43551 rs111033241 7:107303868-107303872 7:107663423-107663427 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg) SNV Pathogenic 43562 rs111033380 7:107314782-107314782 7:107674337-107674337 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.765+2T>C SNV Pathogenic 43567 rs397516432 7:107315556-107315556 7:107675111-107675111 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) SNV Pathogenic 44725 rs111033297 13:20763552-20763552 13:20189413-20189413 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.1A>G (p.Met1Val) SNV Pathogenic 44729 rs111033293 13:20763720-20763720 13:20189581-20189581 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.299_300del (p.His100fs) deletion Pathogenic 44736 rs111033204 13:20763421-20763422 13:20189282-20189283 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.313_326del (p.Lys105fs) deletion Pathogenic 44737 rs111033253 13:20763395-20763408 13:20189256-20189269 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.370C>T (p.Gln124Ter) SNV Pathogenic 44744 rs397516874 13:20763351-20763351 13:20189212-20189212 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.426C>A (p.Phe142Leu) SNV Pathogenic 44750 rs397516877 13:20763295-20763295 13:20189156-20189156 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) SNV Pathogenic 44763 rs111033294 13:20763104-20763104 13:20188965-20188965 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.95G>A (p.Arg32His) SNV Pathogenic 44766 rs111033190 13:20763626-20763626 13:20189487-20189487 RRG078 Rare Genetic Deafness WFS1 NM_006005.3(WFS1):c.2054G>C (p.Arg685Pro) SNV Pathogenic 45446 rs142668478 4:6303576-6303576 4:6301849-6301849 RRG078 Rare Genetic Deafness WFS1 NM_006005.3(WFS1):c.2141A>C (p.Asn714Thr) SNV Pathogenic 45447 rs397517196 4:6303663-6303663 4:6301936-6301936 RRG078 Rare Genetic Deafness WHRN NM_015404.4(WHRN):c.1267C>T (p.Arg423Ter) SNV Pathogenic 45645 rs397517255 9:117186763-117186763 9:114424483-114424483 RRG078 Rare Genetic Deafness WHRN NM_015404.4(WHRN):c.643del (p.Val215fs) deletion Pathogenic 45679 rs397517258 9:117241027-117241027 9:114478747-114478747 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.2012del (p.Phe671fs) deletion Pathogenic 45886 rs397517313 10:73447428-73447428 10:71687671-71687671 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.3481C>T (p.Arg1161Ter) SNV Pathogenic 45920 rs397517323 10:73485179-73485179 10:71725422-71725422 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.3628C>T (p.Gln1210Ter) SNV Pathogenic 45926 rs397517326 10:73490274-73490274 10:71730517-71730517 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.3706C>T (p.Arg1236Ter) SNV Pathogenic 45929 rs397517327 10:73490352-73490352 10:71730595-71730595 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter) SNV Pathogenic 45943 rs397517329 10:73498354-73498354 10:71738597-71738597 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.46del (p.Val16fs) deletion Pathogenic 45954 rs397517331 10:73199633-73199633 10:71439876-71439876 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.5272C>T (p.Gln1758Ter) SNV Pathogenic 45972 rs397517337 10:73539108-73539108 10:71779351-71779351 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.5712+1G>A SNV Pathogenic 45988 rs397517341 10:73544858-73544858 10:71785101-71785101 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.5923+1G>A SNV Pathogenic 45995 rs397517346 10:73548800-73548800 10:71789043-71789043 RRG078 Rare Genetic Deafness MYO15A NM_016239.4(MYO15A):c.7006dup (p.Gln2336fs) duplication Pathogenic 45757 rs397517286 17:18052575-18052576 17:18149261-18149262 RRG078 Rare Genetic Deafness MYO15A NM_016239.4(MYO15A):c.8100del (p.Lys2701fs) deletion Pathogenic 45765 rs397517287 17:18057453-18057453 17:18154139-18154139 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.8781C>A (p.Tyr2927Ter) SNV Pathogenic 46053 rs397517362 10:73569635-73569635 10:71809878-71809878 RRG078 Rare Genetic Deafness ADGRV1 NM_032119.4(ADGRV1):c.7374_7375del (p.Glu2459fs) deletion Pathogenic 46370 rs397517435 5:89989947-89989948 5:90694130-90694131 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.6050-9G>A SNV Pathogenic 46001 rs367928692 10:73550880-73550880 10:71791123-71791123 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.6968del (p.Pro2323fs) deletion Pathogenic 46023 rs397517350 10:73558247-73558247 10:71798490-71798490 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.7776G>A (p.Trp2592Ter) SNV Pathogenic 46039 rs397517353 10:73563081-73563081 10:71803324-71803324 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.9629_9632del (p.Ile3210fs) deletion Pathogenic 46077 rs397517367 10:73572640-73572643 10:71812883-71812886 RRG078 Rare Genetic Deafness TMPRSS3 NM_001256317.3(TMPRSS3):c.323-6G>A SNV Pathogenic 46113 rs374793617 21:43808641-43808641 21:42388532-42388532 RRG078 Rare Genetic Deafness TMPRSS3 NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr) SNV Pathogenic 46131 rs181949335 21:43802210-43802210 21:42382101-42382101 RRG078 Rare Genetic Deafness ADGRV1 NM_032119.4(ADGRV1):c.11253C>G (p.Tyr3751Ter) SNV Pathogenic 46254 rs376689763 5:90049522-90049522 5:90753705-90753705 RRG078 Rare Genetic Deafness ADGRV1 NM_032119.4(ADGRV1):c.17662del (p.Ser5888fs) deletion Pathogenic 46292 rs397517426 5:90151624-90151624 5:90855807-90855807 RRG078 Rare Genetic Deafness ADGRV1 NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter) SNV Pathogenic 46306 rs373780305 5:89938703-89938703 5:90642886-90642886 RRG078 Rare Genetic Deafness ADGRV1 NM_032119.4(ADGRV1):c.2870dup (p.Asn957fs) duplication Pathogenic 46309 rs397517429 5:89940652-89940653 5:90644835-90644836 RRG078 Rare Genetic Deafness ADGRV1 NM_032119.4(ADGRV1):c.8737del (p.Val2913fs) deletion Pathogenic 46399 rs397517441 5:90004639-90004639 5:90708822-90708822 RRG078 Rare Genetic Deafness TMC1 NM_138691.2(TMC1):c.1165C>T (p.Arg389Ter) SNV Pathogenic 47856 rs151001642 9:75404174-75404174 9:72789258-72789258 RRG078 Rare Genetic Deafness EYA1 NM_000503.6(EYA1):c.1697_1698insT (p.Lys566fs) insertion Pathogenic 48104 rs397517919 8:72123391-72123392 8:71211156-71211157 RRG078 Rare Genetic Deafness EYA1 NM_000503.6(EYA1):c.1122del (p.Leu374fs) deletion Pathogenic 48099 rs397517916 8:72156856-72156856 8:71244621-71244621 RRG078 Rare Genetic Deafness EYA1 NM_000503.6(EYA1):c.1361-1G>T SNV Pathogenic 48102 rs397517917 8:72127964-72127964 8:71215729-71215729 RRG078 Rare Genetic Deafness OTOF NM_194248.3(OTOF):c.2153G>A (p.Trp718Ter) SNV Pathogenic 48187 rs111033383 2:26702193-26702193 2:26479325-26479325 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.14031dup (p.Ala4678fs) duplication Pathogenic 48426 rs397517988 1:215844415-215844416 1:215671073-215671074 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.11048-1G>A SNV Pathogenic 48365 rs111033414 1:215933186-215933186 1:215759844-215759844 RRG078 Rare Genetic Deafness USH2A NM_206933.3(USH2A):c.10190_10191del (p.Lys3397fs) deletion Pathogenic 48343 rs397517964 1:215960208-215960209 1:215786866-215786867 RRG078 Rare Genetic Deafness USH2A NM_206933.3(USH2A):c.1036A>C (p.Asn346His) SNV Pathogenic 48347 rs369522997 1:216498754-216498754 1:216325412-216325412 RRG078 Rare Genetic Deafness USH2A NM_206933.3(USH2A):c.11411del (p.Pro3804fs) deletion Pathogenic 48375 rs397517973 1:215916656-215916656 1:215743314-215743314 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.1143+1G>A SNV Pathogenic 48376 rs397517974 1:216498646-216498646 1:216325304-216325304 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.12067-2A>G SNV Pathogenic 48390 rs397517978 1:215853720-215853720 1:215680378-215680378 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter) SNV Pathogenic 48408 rs397517983 1:215848385-215848385 1:215675043-215675043 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter) SNV Pathogenic 48449 rs397517994 1:215813957-215813957 1:215640615-215640615 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) SNV Pathogenic 48471 rs111033273 1:216495263-216495263 1:216321921-216321921 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.1841-2A>G SNV Pathogenic 48476 rs397518003 1:216462754-216462754 1:216289412-216289412 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.9304C>T (p.Gln3102Ter) SNV Pathogenic 48621 rs397518046 1:216011400-216011400 1:215838058-215838058 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.12714T>G (p.Tyr4238Ter) SNV Pathogenic 48405 rs397517981 1:215848539-215848539 1:215675197-215675197 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter) SNV Pathogenic 48499 rs397518011 1:216380622-216380622 1:216207280-216207280 RRG078 Rare Genetic Deafness USH2A NM_007123.5(USH2A):c.3435del (p.Val1147fs) deletion Pathogenic 48502 rs397518012 1:216373345-216373345 1:216200003-216200003 RRG078 Rare Genetic Deafness USH2A NM_007123.5(USH2A):c.4129_4130TC[4] (p.Asn1379fs) short repeat Pathogenic 48512 rs397518015 1:216370011-216370012 1:216196669-216196670 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.5001dup (p.Gly1668fs) duplication Pathogenic 48526 rs397518018 1:216258205-216258206 1:216084863-216084864 RRG078 Rare Genetic Deafness USH2A NM_206933.3(USH2A):c.5581G>A (p.Gly1861Ser) SNV Pathogenic 48535 rs375668376 1:216246634-216246634 1:216073292-216073292 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter) SNV Pathogenic 48554 rs111033386 1:216219874-216219874 1:216046532-216046532 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.7244C>G (p.Ser2415Ter) SNV Pathogenic 48579 rs397518029 1:216108014-216108014 1:215934672-215934672 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.820C>T (p.Arg274Ter) SNV Pathogenic 48595 rs397518036 1:216500961-216500961 1:216327619-216327619 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.8559-2A>G SNV Pathogenic 48604 rs397518039 1:216051224-216051224 1:215877882-215877882 RRG078 Rare Genetic Deafness USH2A NM_007123.5(USH2A):c.920_923dup (p.His308fs) duplication Pathogenic 48615 rs397518043 1:216498866-216498867 1:216325524-216325525 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.9371+1G>C SNV Pathogenic 48624 rs41308425 1:216011332-216011332 1:215837990-215837990 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) SNV Pathogenic 48626 rs397518048 1:215990485-215990485 1:215817143-215817143 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter) SNV Pathogenic 48628 rs73090721 1:215990450-215990450 1:215817108-215817108 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg) SNV Pathogenic 48634 rs111033263 1:215972408-215972408 1:215799066-215799066 RRG078 Rare Genetic Deafness ADGRV1 NM_032119.4(ADGRV1):c.7006C>T (p.Arg2336Ter) SNV Pathogenic 143160 rs527236133 5:89988476-89988476 5:90692659-90692659 RRG078 Rare Genetic Deafness USH2A NM_206933.2(USH2A):c.(?_5299)_(5572_?)del (p.(?)) deletion Pathogenic 179214 1:216251431-216251704 1:216078089-216078362 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.4510dup (p.Arg1504fs) duplication Pathogenic 166504 rs727503731 1:216348710-216348711 1:216175368-216175369 RRG078 Rare Genetic Deafness USH2A NM_206933.2(USH2A):c.(?_8682)_(8845_?)del (p.(?)) deletion Pathogenic 179512 1:216040349-216040512 1:215867007-215867170 RRG078 Rare Genetic Deafness USH2A NC_000001.11:g.(?_216086719)_(216097213_?)del deletion Pathogenic 179215 1:216260061-216270555 1:216086719-216097213 RRG078 Rare Genetic Deafness GPSM2 NM_013296.5(GPSM2):c.459_460del (p.Ala154fs) deletion Pathogenic 180034 rs727505300 1:109440625-109440626 1:108898003-108898004 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter) SNV Pathogenic 177760 rs146733615 1:215814065-215814065 1:215640723-215640723 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter) SNV Pathogenic 179439 rs727504867 1:215824029-215824029 1:215650687-215650687 RRG078 Rare Genetic Deafness USH2A NM_206933.3(USH2A):c.13374del (p.Glu4458fs) deletion Pathogenic 166428 rs727503715 1:215847879-215847879 1:215674537-215674537 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.1992dup (p.Lys665Ter) duplication Pathogenic 178971 rs730880349 1:216424419-216424420 1:216251077-216251078 RRG078 Rare Genetic Deafness USH2A NM_206933.2(USH2A):c.(?_1645)_(1840_?)del (p.(?)) deletion Pathogenic 178657 1:216465517-216465712 1:216292175-216292370 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter) SNV Pathogenic 180084 rs727505337 1:215916627-215916627 1:215743285-215743285 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.2541C>A (p.Cys847Ter) SNV Pathogenic 166516 rs727503736 1:216420195-216420195 1:216246853-216246853 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.632G>A (p.Trp211Ter) SNV Pathogenic 179482 rs727504893 1:216591875-216591875 1:216418533-216418533 RRG078 Rare Genetic Deafness ADGRV1 NM_032119.3(ADGRV1):c.(?_4379)_(4752_?)del (p.(?)) deletion Pathogenic 179513 5:89953722-89954095 5:90657905-90658278 RRG078 Rare Genetic Deafness OTOF NM_194248.3(OTOF):c.3178del (p.Ala1060fs) deletion Pathogenic 179115 rs727504639 2:26697491-26697491 2:26474623-26474623 RRG078 Rare Genetic Deafness OTOF NM_194248.3(OTOF):c.2991+2T>G SNV Pathogenic 178509 rs370132645 2:26698780-26698780 2:26475912-26475912 RRG078 Rare Genetic Deafness OTOF NM_194248.3(OTOF):c.2818C>T (p.Gln940Ter) SNV Pathogenic 179539 rs727504936 2:26699044-26699044 2:26476176-26476176 RRG078 Rare Genetic Deafness OTOF NM_194248.3(OTOF):c.2239G>T (p.Glu747Ter) SNV Pathogenic 65787 rs397515591 2:26700593-26700593 2:26477725-26477725 RRG078 Rare Genetic Deafness KCNQ4 NM_004700.4(KCNQ4):c.459del (p.Ala154fs) deletion Pathogenic 179111 rs727504635 1:41283888-41283888 1:40818216-40818216 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.6398G>A (p.Trp2133Ter) SNV Pathogenic 166484 rs727503725 1:216173832-216173832 1:216000490-216000490 RRG078 Rare Genetic Deafness OTOF NM_194248.3(OTOF):c.5203del (p.Arg1735fs) deletion Pathogenic 164835 rs727503352 2:26685039-26685039 2:26462171-26462171 RRG078 Rare Genetic Deafness OTOF NM_194248.3(OTOF):c.4799+1G>A SNV Pathogenic 164841 rs200147906 2:26688539-26688539 2:26465671-26465671 RRG078 Rare Genetic Deafness OTOF NM_194248.3(OTOF):c.2975_2976AG[1] (p.Gln994fs) short repeat Pathogenic 179828 rs397515597 2:26698795-26698796 2:26475927-26475928 RRG078 Rare Genetic Deafness ADGRV1 NM_032119.4(ADGRV1):c.(?_18153)-15_*(15_?)del deletion Pathogenic 178693 5:90368249-90459732 5:91072432-91163915 RRG078 Rare Genetic Deafness USH2A NC_000001.11:g.(?_216292175)_(216327654_?)del deletion Pathogenic 178656 1:216465517-216500996 1:216292175-216327654 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.11145T>A (p.Tyr3715Ter) SNV Pathogenic 179075 rs727504608 1:215933088-215933088 1:215759746-215759746 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.2089+1G>A SNV Pathogenic 165263 rs727503430 7:107344831-107344831 7:107704386-107704386 RRG078 Rare Genetic Deafness MYO6 NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) SNV Pathogenic 164634 rs727503326 6:76554623-76554623 6:75844906-75844906 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.1554G>A (p.Trp518Ter) SNV Pathogenic 165257 rs727503428 7:107338496-107338496 7:107698051-107698051 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.1614+1G>C SNV Pathogenic 179170 rs111033312 7:107338557-107338557 7:107698112-107698112 RRG078 Rare Genetic Deafness GSDME NM_001127453.2(GSDME):c.991-21TTC[2] short repeat Pathogenic 179997 rs727505273 7:24746008-24746010 7:24706389-24706391 RRG078 Rare Genetic Deafness EYA1 NM_172058.2(EYA1):c.(?_-66)_(*76_?)del deletion Pathogenic 163426 8:72111499-72268758 8:71199264-71356523 RRG078 Rare Genetic Deafness ADGRV1 NM_032119.4(ADGRV1):c.5643del (p.Tyr1882fs) deletion Pathogenic 163578 rs727503076 5:89977248-89977248 5:90681431-90681431 RRG078 Rare Genetic Deafness EYA1 NM_000503.6(EYA1):c.1475+1G>C SNV Pathogenic 163427 rs727503042 8:72127848-72127848 8:71215613-71215613 RRG078 Rare Genetic Deafness EYA1 NM_000503.6(EYA1):c.428G>A (p.Trp143Ter) SNV Pathogenic 178857 rs727504494 8:72229915-72229915 8:71317680-71317680 RRG078 Rare Genetic Deafness ADGRV1 NM_032119.4(ADGRV1):c.10056_10059ACAA[1] (p.Thr3354fs) short repeat Pathogenic 179597 rs727504978 5:90021368-90021371 5:90725551-90725554 RRG078 Rare Genetic Deafness ADGRV1 NM_032119.4(ADGRV1):c.12631C>T (p.Arg4211Ter) SNV Pathogenic 179305 rs727504777 5:90073825-90073825 5:90778008-90778008 RRG078 Rare Genetic Deafness PCDH15 NM_033056.3(PCDH15):c.(?_-15)_(876_?)del deletion Pathogenic 164883 10:56077031-56424037 10:54317271-54664277 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.945+1G>T SNV Pathogenic 162876 rs727502919 10:73375374-73375374 10:71615617-71615617 RRG078 Rare Genetic Deafness CDH23 NC_000010.11:g.(?_71731987)_(71734281_?)del deletion Pathogenic 179348 10:73491744-73494038 10:71731987-71734281 RRG078 Rare Genetic Deafness MYO7A NC_000011.10:g.(?_77212952)_(77214696_?)del deletion Pathogenic 179327 11:76923997-76925741 11:77212952-77214696 RRG078 Rare Genetic Deafness TMC1 NM_138691.2(TMC1):c.22del (p.Ile8fs) deletion Pathogenic 178942 rs727504554 9:75303628-75303628 9:72688712-72688712 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.7873-2A>T SNV Pathogenic 162945 rs727502933 10:73565561-73565561 10:71805804-71805804 RRG078 Rare Genetic Deafness PCDH15 NM_033056.4(PCDH15):c.1927C>T (p.Arg643Ter) SNV Pathogenic 177724 rs727504301 10:55849814-55849814 10:54090054-54090054 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.6231dup (p.Lys2078fs) duplication Pathogenic 179745 rs730880367 11:76922374-76922375 11:77211329-77211330 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.7979_7986del (p.Asp2660fs) deletion Pathogenic 179282 rs727504761 10:73565668-73565675 10:71805911-71805918 RRG078 Rare Genetic Deafness RDX NM_001260496.1(RDX):c.405-4131del deletion Pathogenic 179207 rs727504709 11:110106860-110106860 11:110236135-110236135 RRG078 Rare Genetic Deafness STRC NM_153700.2(STRC):c.(?_4376)-190_(4845_?)-68del deletion Pathogenic 180122 15:43892948-43895799 15:43600750-43603601 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.269dup (p.Val91fs) duplication Pathogenic 177737 rs730880338 13:20763451-20763452 13:20189312-20189313 RRG078 Rare Genetic Deafness STRC NC_000015.10:g.(?_43600534)_(43601014_?)del deletion Pathogenic 165296 15:43892732-43893212 15:43600534-43601014 RRG078 Rare Genetic Deafness OTOA NM_144672.3(OTOA):c.(?_2302)_(2431_?)del (p.(?)) deletion Pathogenic 164814 16:21747582-21747711 16:21736261-21736390 RRG078 Rare Genetic Deafness OTOA NM_144672.4(OTOA):c.1688+1G>T SNV Pathogenic 164824 rs727503350 16:21730513-21730513 16:21719192-21719192 RRG078 Rare Genetic Deafness OTOA NM_144672.4(OTOA):c.1880+1G>A SNV Pathogenic 164826 rs148690740 16:21734300-21734300 16:21722979-21722979 RRG078 Rare Genetic Deafness CATSPER2 NM_172095.3(CATSPER2):c.(?_718)-34_(843_?)-857del deletion Pathogenic 162825 15:43929274-43931260 15:43637076-43639062 RRG078 Rare Genetic Deafness STRC NC_000015.10:g.(?_43599672)_(43618722_?)del deletion Pathogenic 165295 15:43891870-43910920 15:43599672-43618722 RRG078 Rare Genetic Deafness STRC NM_153700.2(STRC):c.4796_4800del (p.Cys1599fs) deletion Pathogenic 165302 rs727503442 15:43893114-43893118 15:43600916-43600920 RRG078 Rare Genetic Deafness STRC NM_153700.2(STRC):c.4701+1G>A SNV Pathogenic 165305 rs199839039 15:43893593-43893593 15:43601395-43601395 RRG078 Rare Genetic Deafness STRC NC_000015.10:g.(?_43600534)_(43605399_?)del deletion Pathogenic 165297 15:43892732-43897597 15:43600534-43605399 RRG078 Rare Genetic Deafness STRC NM_153700.2(STRC):c.4402C>T (p.Arg1468Ter) SNV Pathogenic 179758 rs377480477 15:43895583-43895583 15:43603385-43603385 RRG078 Rare Genetic Deafness STRC NM_153700.2(STRC):c.4195G>T (p.Glu1399Ter) SNV Pathogenic 165310 rs371513959 15:43896582-43896582 15:43604384-43604384 RRG078 Rare Genetic Deafness STRC NM_153700.2(STRC):c.3670C>T (p.Arg1224Ter) SNV Pathogenic 165315 rs727503444 15:43900289-43900289 15:43608091-43608091 RRG078 Rare Genetic Deafness TMPRSS3 NM_001256317.3(TMPRSS3):c.1189C>T (p.Gln397Ter) SNV Pathogenic 177740 rs727504304 21:43796652-43796652 21:42376543-42376543 RRG078 Rare Genetic Deafness MYH9 NM_002473.6(MYH9):c.4546G>T (p.Val1516Leu) SNV Pathogenic 164432 rs727503284 22:36685142-36685142 22:36289096-36289096 RRG078 Rare Genetic Deafness STRC NM_153700.2(STRC):c.3484del (p.Trp1162fs) deletion Pathogenic 179717 rs727505074 15:43902524-43902524 15:43610326-43610326 RRG078 Rare Genetic Deafness OTOA NC_000016.10:g.(?_21678515)_(21760540_?)del deletion Pathogenic 178863 16:21689836-21771861 16:21678515-21760540 RRG078 Rare Genetic Deafness MYO15A NM_016239.4(MYO15A):c.7893+1G>A SNV Pathogenic 164552 rs727503316 17:18055266-18055266 17:18151952-18151952 RRG078 Rare Genetic Deafness MYO15A NM_016239.4(MYO15A):c.8714-1G>A SNV Pathogenic 178449 rs377015931 17:18060469-18060469 17:18157155-18157155 RRG078 Rare Genetic Deafness MYO15A NM_016239.4(MYO15A):c.10136C>A (p.Ser3379Ter) SNV Pathogenic 179222 rs546575046 17:18075005-18075005 17:18171691-18171691 RRG078 Rare Genetic Deafness LOXHD1 NM_144612.6(LOXHD1):c.4099G>T (p.Glu1367Ter) SNV Pathogenic 163910 rs373937326 18:44114411-44114411 18:46534448-46534448 RRG078 Rare Genetic Deafness LOXHD1 NM_144612.6(LOXHD1):c.2303del (p.Gly768fs) deletion Pathogenic 163919 rs727503146 18:44146354-44146354 18:46566391-46566391 RRG078 Rare Genetic Deafness GIPC3 NM_133261.3(GIPC3):c.279_295del (p.Gln95fs) deletion Pathogenic 179296 rs727504771 19:3586546-3586562 19:3586546-3586562 RRG078 Rare Genetic Deafness MYO15A NM_016239.4(MYO15A):c.5531+1G>A SNV Pathogenic 164528 rs727503309 17:18044458-18044458 17:18141144-18141144 RRG078 Rare Genetic Deafness MYO15A NM_016239.4(MYO15A):c.6046+1G>A SNV Pathogenic 164536 rs201978571 17:18047111-18047111 17:18143797-18143797 RRG078 Rare Genetic Deafness MYO15A NM_016239.4(MYO15A):c.7226del (p.Pro2409fs) deletion Pathogenic 164548 rs727503315 17:18053755-18053755 17:18150441-18150441 RRG078 Rare Genetic Deafness LOXHD1 NM_144612.6(LOXHD1):c.3169C>T (p.Arg1057Ter) SNV Pathogenic 179755 rs727505104 18:44139458-44139458 18:46559495-46559495 RRG078 Rare Genetic Deafness MYO15A NM_016239.4(MYO15A):c.5851del (p.Ser1951fs) deletion Pathogenic 179619 rs727504995 17:18046095-18046095 17:18142781-18142781 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.973_976del (p.Ile325fs) deletion Pathogenic 164663 rs797044490 11:76869444-76869447 11:77158398-77158401 RRG078 Rare Genetic Deafness WFS1 NM_006005.3(WFS1):c.1441_1447dup (p.Val483fs) duplication Pathogenic 166564 rs727503745 4:6302962-6302963 4:6301235-6301236 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.470+1G>A SNV Pathogenic 177712 rs797044510 11:76867138-76867138 11:77156092-77156092 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.3564_3571delinsA (p.Tyr1188_Gly1191delinsTer) indel Pathogenic 179061 rs797044513 11:76900449-76900456 11:77189404-77189411 RRG078 Rare Genetic Deafness ATP6V1B1 NM_001692.4(ATP6V1B1):c.785+1G>A SNV Pathogenic 179259 rs727504746 2:71188824-71188824 2:70961694-70961694 RRG078 Rare Genetic Deafness TMC1 NM_138691.2(TMC1):c.215_219dup (p.Arg74fs) duplication Pathogenic 179431 rs730880359 9:75309608-75309609 9:72694692-72694693 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.77C>A (p.Ala26Glu) SNV Pathogenic 177731 rs369125667 11:76853813-76853813 11:77142767-77142767 RRG078 Rare Genetic Deafness ADGRV1 NM_032119.4(ADGRV1):c.5779_5783dup (p.Ser1928fs) duplication Pathogenic 179943 rs730880369 5:89979514-89979515 5:90683697-90683698 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) SNV Pathogenic 188758 rs371024165 13:20763627-20763627 13:20189488-20189488 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.13711G>T (p.Glu4571Ter) SNV Pathogenic 228412 rs751411512 1:215847542-215847542 1:215674200-215674200 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.9570+1G>A SNV Pathogenic 228418 rs760225886 1:215990338-215990338 1:215816996-215816996 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter) SNV Pathogenic 228417 rs766590491 1:216040454-216040454 1:215867112-215867112 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.8681+1G>A SNV Pathogenic 228416 rs876657733 1:216051099-216051099 1:215877757-215877757 RRG078 Rare Genetic Deafness USH2A NM_206933.3(USH2A):c.6639del (p.Lys2213fs) deletion Pathogenic 228415 rs876657732 1:216172247-216172247 1:215998905-215998905 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.5776+1G>A SNV Pathogenic 228414 rs876657731 1:216246438-216246438 1:216073096-216073096 RRG078 Rare Genetic Deafness PAX3 NM_001127366.2(PAX3):c.(?_-77)_(583_?)+547del deletion Pathogenic 228386 2:223158339-223163411 2:222293620-222298692 RRG078 Rare Genetic Deafness PAX3 NM_181458.4(PAX3):c.668G>A (p.Arg223Gln) SNV Pathogenic 228387 rs876657717 2:223096921-223096921 2:222232202-222232202 RRG078 Rare Genetic Deafness MITF NM_198159.2(MITF):c.(?_355)-1203_*(78_?)del deletion Pathogenic 228360 3:69985770-70014477 3:69936619-69965326 RRG078 Rare Genetic Deafness MITF NM_198159.2(MITF):c.(?_938)-102_*(78_?)del deletion Pathogenic 228361 3:70005504-70014477 3:69956353-69965326 RRG078 Rare Genetic Deafness MITF NM_001354604.2(MITF):c.704C>G (p.Ser235Ter) SNV Pathogenic 228364 rs876657700 3:69990424-69990424 3:69941273-69941273 RRG078 Rare Genetic Deafness MITF NM_001354604.2(MITF):c.1043G>A (p.Trp348Ter) SNV Pathogenic 228362 rs876657698 3:70008435-70008435 3:69959284-69959284 RRG078 Rare Genetic Deafness MITF NM_001354604.2(MITF):c.1129C>T (p.Arg377Ter) SNV Pathogenic 228363 rs876657699 3:70008521-70008521 3:69959370-69959370 RRG078 Rare Genetic Deafness WFS1 NM_006005.3(WFS1):c.1243_1245del (p.Val415del) deletion Pathogenic 215406 rs863224265 4:6302763-6302765 4:6301036-6301038 RRG078 Rare Genetic Deafness USH2A NC_000001.11:g.(?_215888426)_(215900905_?)del deletion Pathogenic 228410 1:216061768-216074247 1:215888426-215900905 RRG078 Rare Genetic Deafness GPSM2 NM_013296.5(GPSM2):c.1063-1G>T SNV Pathogenic 228354 rs773068151 1:109446746-109446746 1:108904124-108904124 RRG078 Rare Genetic Deafness DIAPH1 NM_005219.5(DIAPH1):c.3637C>T (p.Arg1213Ter) SNV Pathogenic 228577 rs876657776 5:140903734-140903734 5:141524167-141524167 RRG078 Rare Genetic Deafness MARVELD2 NM_001038603.3(MARVELD2):c.1331+1G>A SNV Pathogenic 228359 rs762352115 5:68728503-68728503 5:69432676-69432676 RRG078 Rare Genetic Deafness ADGRV1 NM_032119.4(ADGRV1):c.1701del (p.Leu568fs) deletion Pathogenic 228352 rs876657695 5:89925215-89925215 5:90629398-90629398 RRG078 Rare Genetic Deafness ADGRV1 NM_032119.4(ADGRV1):c.7129C>T (p.Arg2377Ter) SNV Pathogenic 228353 rs758718347 5:89988599-89988599 5:90692782-90692782 RRG078 Rare Genetic Deafness ADGRV1 NM_032119.4(ADGRV1):c.14885G>A (p.Trp4962Ter) SNV Pathogenic 228351 rs876657694 5:90103467-90103467 5:90807650-90807650 RRG078 Rare Genetic Deafness MYO6 NM_004999.4(MYO6):c.458C>G (p.Ser153Ter) SNV Pathogenic 228376 rs876657710 6:76542625-76542625 6:75832908-75832908 RRG078 Rare Genetic Deafness MYO6 NM_004999.4(MYO6):c.2814_2815del (p.Arg939fs) deletion Pathogenic 228375 rs876657709 6:76599926-76599927 6:75890209-75890210 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.2224del (p.Ile742fs) deletion Pathogenic 228397 rs876657723 7:107350633-107350633 7:107710188-107710188 RRG078 Rare Genetic Deafness EYA1 NM_172058.3(EYA1):c.(?_1598)-56_*(1968_?)del deletion Pathogenic 228344 8:72109607-72123547 8:71197372-71211312 RRG078 Rare Genetic Deafness EYA1 NM_000503.6(EYA1):c.1090G>T (p.Glu364Ter) SNV Pathogenic 228345 rs876657689 8:72156888-72156888 8:71244653-71244653 RRG078 Rare Genetic Deafness EYA1 NM_000503.6(EYA1):c.896C>A (p.Ser299Ter) SNV Pathogenic 228347 rs876657691 8:72184063-72184063 8:71271828-71271828 RRG078 Rare Genetic Deafness EYA1 NM_000503.6(EYA1):c.396_406del (p.Gln132fs) deletion Pathogenic 228346 rs876657690 8:72233981-72233991 8:71321746-71321756 RRG078 Rare Genetic Deafness TMC1 NM_138691.2(TMC1):c.1236del (p.Met413fs) deletion Pathogenic 228405 rs876657727 9:75406812-75406812 9:72791896-72791896 RRG078 Rare Genetic Deafness TMC1 NM_138691.2(TMC1):c.1676G>A (p.Trp559Ter) SNV Pathogenic 228406 rs876657728 9:75420407-75420407 9:72805491-72805491 RRG078 Rare Genetic Deafness TMC1 NM_138691.2(TMC1):c.1677G>A (p.Trp559Ter) SNV Pathogenic 228407 rs876657729 9:75420408-75420408 9:72805492-72805492 RRG078 Rare Genetic Deafness TMC1 NM_138691.2(TMC1):c.1939T>C (p.Ser647Pro) SNV Pathogenic 228408 rs138527651 9:75435933-75435933 9:72821017-72821017 RRG078 Rare Genetic Deafness PCDH15 NM_033056.3(PCDH15):c.(?_3374)_(3501_?)del (p.(?)) deletion Pathogenic 228388 10:55663003-55663130 10:53903243-53903370 RRG078 Rare Genetic Deafness PCDH15 NM_033056.4(PCDH15):c.3358C>T (p.Arg1120Ter) SNV Pathogenic 228389 rs773404494 10:55698590-55698590 10:53938830-53938830 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.7483-1G>C SNV Pathogenic 228329 rs876657682 10:73562654-73562654 10:71802897-71802897 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.9556C>T (p.Arg3186Ter) SNV Pathogenic 228330 rs773464867 10:73572570-73572570 10:71812813-71812813 RRG078 Rare Genetic Deafness TECTA NM_005422.2(TECTA):c.5977C>T (p.Arg1993Ter) SNV Pathogenic 228404 rs760574657 11:121039612-121039612 11:121168903-121168903 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.1449+1G>T SNV Pathogenic 228327 rs876657680 10:73406375-73406375 10:71646618-71646618 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.1949dup (p.Leu651fs) duplication Pathogenic 228328 rs753886326 10:73442286-73442287 10:71682529-71682530 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.4555del (p.Val1519fs) deletion Pathogenic 228379 rs876657712 11:76909653-76909653 11:77198608-77198608 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.5845_5855del (p.Ile1949fs) deletion Pathogenic 228380 rs876657713 11:76918436-76918446 11:77207389-77207399 RRG078 Rare Genetic Deafness OTOGL NM_173591.3(OTOGL):c.948del (p.Leu316fs) deletion Pathogenic 228385 rs766753922 12:80633142-80633142 12:80239362-80239362 RRG078 Rare Genetic Deafness OTOGL NM_173591.3(OTOGL):c.4987C>T (p.Arg1663Ter) SNV Pathogenic 228384 rs759174628 12:80733008-80733008 12:80339228-80339228 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.523_533del (p.Pro175fs) deletion Pathogenic 228350 rs876657693 13:20763188-20763198 13:20189049-20189059 RRG078 Rare Genetic Deafness STRC NM_153700.2(STRC):c.(?_4443)_(4845_?)-68del deletion Pathogenic 228400 15:43892948-43895542 15:43600750-43603344 RRG078 Rare Genetic Deafness STRC NM_153700.2(STRC):c.3493C>T (p.Gln1165Ter) SNV Pathogenic 228403 rs876657726 15:43902515-43902515 15:43610317-43610317 RRG078 Rare Genetic Deafness STRC NM_153700.2(STRC):c.3217C>T (p.Arg1073Ter) SNV Pathogenic 228402 rs876657725 15:43903435-43903435 15:43611237-43611237 RRG078 Rare Genetic Deafness STRC NM_153700.2(STRC):c.1086C>A (p.Tyr362Ter) SNV Pathogenic 228401 rs876657724 15:43908678-43908678 15:43616480-43616480 RRG078 Rare Genetic Deafness EDNRB NM_001122659.3(EDNRB):c.618G>A (p.Trp206Ter) SNV Pathogenic 228342 rs876657688 13:78477474-78477474 13:77903339-77903339 RRG078 Rare Genetic Deafness MYO15A NM_016239.4(MYO15A):c.5896C>T (p.Arg1966Ter) SNV Pathogenic 228373 rs765468034 17:18046140-18046140 17:18142826-18142826 RRG078 Rare Genetic Deafness GIPC3 NM_133261.3(GIPC3):c.411+1G>A SNV Pathogenic 228349 rs876657692 19:3586679-3586679 19:3586681-3586681 RRG078 Rare Genetic Deafness MYO15A NM_016239.4(MYO15A):c.9303+1G>T SNV Pathogenic 228374 rs876657708 17:18062994-18062994 17:18159680-18159680 RRG078 Rare Genetic Deafness SOX10 NM_006941.3(SOX10):c.(?_698)_(1401_?)del deletion Pathogenic 228398 22:38369502-38370205 22:37973495-37974198 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.2115C>A (p.Cys705Ter) SNV Pathogenic 228377 rs782255281 11:76886438-76886438 11:77175392-77175392 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.3587_3588CT[2] (p.Cys1198fs) short repeat Pathogenic 228378 rs1555090368 11:76900471-76900472 11:77189426-77189427 RRG078 Rare Genetic Deafness POU3F4 NM_000307.5(POU3F4):c.603_606CAAA[1] (p.Gln203fs) short repeat Pathogenic 228391 rs876657719 X:82763935-82763938 X:83508927-83508930 RRG078 Rare Genetic Deafness GPSM2 NM_013296.5(GPSM2):c.1473del (p.Phe492fs) deletion Pathogenic 291707 rs772372530 1:109465069-109465069 1:108922447-108922447 RRG078 Rare Genetic Deafness PCDH15 NM_033056.4(PCDH15):c.3441dup (p.Phe1148fs) duplication Pathogenic/Likely pathogenic 370113 rs770832663 10:55663062-55663063 10:53903302-53903303 RRG078 Rare Genetic Deafness PCDH15 NM_033056.4(PCDH15):c.2419dup (p.Ile807fs) duplication Pathogenic/Likely pathogenic 371039 rs781148814 10:55782758-55782759 10:54022998-54022999 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter) SNV Pathogenic/Likely pathogenic 371700 rs201892914 11:76890131-76890131 11:77179085-77179085 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.564_565del (p.Lys188fs) deletion Pathogenic/Likely pathogenic 371691 rs770116143 13:20763156-20763157 13:20189017-20189018 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) SNV Pathogenic/Likely pathogenic 371709 rs767178508 13:20763282-20763282 13:20189143-20189143 RRG078 Rare Genetic Deafness OTOA NM_144672.4(OTOA):c.746_751delinsA (p.Ser249fs) indel Pathogenic/Likely pathogenic 228383 rs876657716 16:21709102-21709107 16:21697781-21697786 RRG078 Rare Genetic Deafness MYO15A NM_016239.4(MYO15A):c.1185dup (p.Glu396fs) duplication Pathogenic/Likely pathogenic 228372 rs772536599 17:18023292-18023293 17:18119978-18119979 RRG078 Rare Genetic Deafness OTOG NM_001292063.1(OTOG):c.499del (p.Val167fs) deletion Pathogenic/Likely pathogenic 228284 rs876657657 11:17575024-17575024 11:17553477-17553477 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.1544+1G>A SNV Pathogenic/Likely pathogenic 228395 rs876657722 7:107336485-107336485 7:107696040-107696040 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) SNV Pathogenic/Likely pathogenic 178993 rs797044512 11:76868004-76868004 11:77156958-77156958 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp) SNV Pathogenic/Likely pathogenic 228411 rs397517963 1:216498790-216498790 1:216325448-216325448 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) SNV Pathogenic/Likely pathogenic 197932 rs148660051 1:215963510-215963510 1:215790168-215790168 RRG078 Rare Genetic Deafness CLRN1 NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) indel Pathogenic/Likely pathogenic 188726 rs786204428 3:150690344-150690347 3:150972557-150972560 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) SNV Pathogenic/Likely pathogenic 189183 rs771748289 13:20763125-20763125 13:20188986-20188986 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.334_335del (p.Lys112fs) deletion Pathogenic/Likely pathogenic 189051 rs756484720 13:20763386-20763387 13:20189247-20189248 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) SNV Pathogenic/Likely pathogenic 189176 rs104894395 13:20763491-20763491 13:20189352-20189352 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg) SNV Pathogenic/Likely pathogenic 177722 rs782252317 11:76853809-76853809 11:77142763-77142763 RRG078 Rare Genetic Deafness LOXHD1 NM_144612.6(LOXHD1):c.4480C>T (p.Arg1494Ter) SNV Pathogenic/Likely pathogenic 178396 rs201587138 18:44109190-44109190 18:46529227-46529227 RRG078 Rare Genetic Deafness TMPRSS3 NM_024022.3(TMPRSS3):c.208del (p.His70fs) deletion Pathogenic/Likely pathogenic 165492 rs727503493 21:43809152-43809152 21:42389043-42389043 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.379C>T (p.Arg127Cys) SNV Pathogenic/Likely pathogenic 163514 rs727503066 13:20763342-20763342 13:20189203-20189203 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) SNV Pathogenic/Likely pathogenic 178495 rs376764423 11:76919517-76919517 11:77208472-77208472 RRG078 Rare Genetic Deafness ADGRV1 NM_032119.4(ADGRV1):c.17303_17315del (p.Gly5768fs) deletion Pathogenic/Likely pathogenic 179121 rs727504644 5:90149199-90149211 5:90853381-90853393 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.2215C>T (p.Gln739Ter) SNV Pathogenic/Likely pathogenic 165265 rs727503431 7:107350624-107350624 7:107710179-107710179 RRG078 Rare Genetic Deafness USH2A NM_206933.3(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp) deletion Pathogenic/Likely pathogenic 166478 rs727503723 1:216166370-216166372 1:215993028-215993030 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.1522A>G (p.Thr508Ala) SNV Pathogenic/Likely pathogenic 179732 rs727505088 7:107336462-107336462 7:107696017-107696017 RRG078 Rare Genetic Deafness USH2A NM_206933.3(USH2A):c.5877del (p.Ser1961fs) deletion Pathogenic/Likely pathogenic 180092 rs727505343 1:216243615-216243615 1:216070273-216070273 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) SNV Pathogenic/Likely pathogenic 143172 rs527236137 1:215848243-215848243 1:215674901-215674901 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.647_650del (p.Arg216fs) deletion Pathogenic/Likely pathogenic 158609 rs587783647 13:20763071-20763074 13:20188932-20188935 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.298C>T (p.His100Tyr) SNV Pathogenic/Likely pathogenic 158607 rs143343083 13:20763423-20763423 13:20189284-20189284 RRG078 Rare Genetic Deafness KCNQ1 NM_181798.1(KCNQ1):c.107del (p.Leu36fs) deletion Pathogenic/Likely pathogenic 53050 rs397508112 11:2591868-2591868 11:2570638-2570638 RRG078 Rare Genetic Deafness LARS2 NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) SNV Pathogenic/Likely pathogenic 55871 rs199589947 3:45537808-45537808 3:45496316-45496316 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) SNV Pathogenic/Likely pathogenic 48611 rs397518041 1:216019240-216019240 1:215845898-215845898 RRG078 Rare Genetic Deafness USH2A NM_206933.3(USH2A):c.3558del (p.Cys1186fs) deletion Pathogenic/Likely pathogenic 48504 rs397518014 1:216373222-216373222 1:216199880-216199880 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.5858-1G>A SNV Pathogenic/Likely pathogenic 48545 rs397518023 1:216243635-216243635 1:216070293-216070293 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter) SNV Pathogenic/Likely pathogenic 48543 rs397518021 1:216246300-216246300 1:216072958-216072958 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter) SNV Pathogenic/Likely pathogenic 48412 rs111033385 1:215848123-215848123 1:215674781-215674781 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.13313G>A (p.Trp4438Ter) SNV Pathogenic/Likely pathogenic 48416 rs111033417 1:215847940-215847940 1:215674598-215674598 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter) SNV Pathogenic/Likely pathogenic 48429 rs397517989 1:215824097-215824097 1:215650755-215650755 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg) SNV Pathogenic/Likely pathogenic 48433 rs397517990 1:215823990-215823990 1:215650648-215650648 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.12295-2A>G SNV Pathogenic/Likely pathogenic 48392 rs151148854 1:215848960-215848960 1:215675618-215675618 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter) SNV Pathogenic/Likely pathogenic 48388 rs397517976 1:215901484-215901484 1:215728142-215728142 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.12067-1G>C SNV Pathogenic/Likely pathogenic 48389 rs397517977 1:215853719-215853719 1:215680377-215680377 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter) SNV Pathogenic/Likely pathogenic 48348 rs111033379 1:215956215-215956215 1:215782873-215782873 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) SNV Pathogenic/Likely pathogenic 48352 rs111033264 1:215956104-215956104 1:215782762-215782762 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) SNV Pathogenic/Likely pathogenic 48355 rs202175091 1:215955412-215955412 1:215782070-215782070 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr) SNV Pathogenic/Likely pathogenic 48356 rs111033265 1:215955400-215955400 1:215782058-215782058 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter) SNV Pathogenic/Likely pathogenic 48357 rs111033418 1:215953365-215953365 1:215780023-215780023 RRG078 Rare Genetic Deafness CLRN1 NM_052995.2(CLRN1):c.73_77del (p.Val25fs) deletion Pathogenic/Likely pathogenic 48145 rs397517932 3:150659497-150659501 3:150941710-150941714 RRG078 Rare Genetic Deafness CLRN1 NM_052995.2(CLRN1):c.140C>A (p.Ala47Asp) SNV Pathogenic/Likely pathogenic 48146 rs374963432 3:150659434-150659434 3:150941647-150941647 RRG078 Rare Genetic Deafness PCDH15 NM_033056.4(PCDH15):c.16del (p.Tyr6fs) deletion Pathogenic/Likely pathogenic 46446 rs397517451 10:56424007-56424007 10:54664247-54664247 RRG078 Rare Genetic Deafness PCDH15 NM_033056.4(PCDH15):c.1998-2A>G SNV Pathogenic/Likely pathogenic 46449 rs397517452 10:55839186-55839186 10:54079426-54079426 RRG078 Rare Genetic Deafness PCDH15 NM_033056.4(PCDH15):c.3316C>T (p.Arg1106Ter) SNV Pathogenic/Likely pathogenic 46464 rs202033121 10:55698632-55698632 10:53938872-53938872 RRG078 Rare Genetic Deafness ADGRV1 NM_032119.4(ADGRV1):c.14973-2A>G SNV Pathogenic/Likely pathogenic 46275 rs371981035 5:90106048-90106048 5:90810231-90810231 RRG078 Rare Genetic Deafness TMPRSS3 NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) SNV Pathogenic/Likely pathogenic 46119 rs147231991 21:43808545-43808545 21:42388436-42388436 RRG078 Rare Genetic Deafness TMPRSS3 NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) SNV Pathogenic/Likely pathogenic 46102 rs56264519 21:43795896-43795896 21:42375787-42375787 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.6049+1G>A SNV Pathogenic/Likely pathogenic 45999 rs111033247 10:73550171-73550171 10:71790414-71790414 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) SNV Pathogenic/Likely pathogenic 44767 rs111033401 13:20763712-20763712 13:20189573-20189573 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) SNV Pathogenic/Likely pathogenic 44752 rs111033217 13:20763677-20763677 13:20189538-20189538 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) SNV Pathogenic/Likely pathogenic 44742 rs111033295 13:20763356-20763356 13:20189217-20189217 RRG078 Rare Genetic Deafness GJB2 NM_004004.5(GJB2):c.592_600delGTGTCTGGAinsCAGTGTTCATGACATTC (p.Val198Glnfs) indel Pathogenic/Likely pathogenic 44761 rs111033335 13:20763121-20763129 13:20188982-20188990 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.19C>T (p.Gln7Ter) SNV Pathogenic/Likely pathogenic 44728 rs111033451 13:20763702-20763702 13:20189563-20189563 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.283G>A (p.Val95Met) SNV Pathogenic/Likely pathogenic 44735 rs111033299 13:20763438-20763438 13:20189299-20189299 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.31_68del (p.Gly11fs) deletion Pathogenic/Likely pathogenic 44738 rs397516873 13:20763653-20763690 13:20189514-20189551 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter) SNV Pathogenic/Likely pathogenic 43300 rs111033192 11:76918415-76918415 11:77207370-77207370 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) SNV Pathogenic/Likely pathogenic 43566 rs111033256 7:107315505-107315505 7:107675060-107675060 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter) SNV Pathogenic/Likely pathogenic 43569 rs111033205 7:107302171-107302171 7:107661726-107661726 RRG078 Rare Genetic Deafness PDZD7 NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) deletion Pathogenic/Likely pathogenic 44121 rs397516633 10:102770539-102770539 10:101010782-101010782 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.68C>A (p.Ser23Ter) SNV Pathogenic/Likely pathogenic 43563 rs397516430 7:107302154-107302154 7:107661709-107661709 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.1437+2T>G SNV Pathogenic/Likely pathogenic 43508 rs397516418 7:107335163-107335163 7:107694718-107694718 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.1264-1G>C SNV Pathogenic/Likely pathogenic 43500 rs111033311 7:107334847-107334847 7:107694402-107694402 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.1281_1283TGC[1] (p.Ala429del) short repeat Pathogenic/Likely pathogenic 43501 rs111033306 7:107334864-107334866 7:107694419-107694421 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter) SNV Pathogenic/Likely pathogenic 43504 rs397516416 7:107334920-107334920 7:107694475-107694475 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.-3-2A>G SNV Pathogenic/Likely pathogenic 43486 rs397516411 7:107302082-107302082 7:107661637-107661637 RRG078 Rare Genetic Deafness SLC26A4-AS1 NM_000441.2(SLC26A4):c.-3-2A>G SNV Pathogenic/Likely pathogenic 43486 rs397516411 7:107302082-107302082 7:107661637-107661637 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) deletion Pathogenic/Likely pathogenic 43494 rs397516413 7:107330616-107330616 7:107690171-107690171 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.5880_5882CTT[2] (p.Phe1963del) short repeat Pathogenic/Likely pathogenic 43308 rs111033232 11:76919498-76919500 11:77208453-77208455 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) SNV Pathogenic/Likely pathogenic 43327 rs111033283 11:76867955-76867955 11:77156909-77156909 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.6439-2A>G SNV Pathogenic/Likely pathogenic 43329 rs397516330 11:76924903-76924903 11:77213858-77213858 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp) SNV Pathogenic/Likely pathogenic 43291 rs397516321 11:76916643-76916643 11:77205598-77205598 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln) SNV Pathogenic/Likely pathogenic 43294 rs111033215 11:76917153-76917153 11:77206108-77206108 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu) SNV Pathogenic/Likely pathogenic 43295 rs199606180 11:76917165-76917165 11:77206120-77206120 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) SNV Pathogenic/Likely pathogenic 43288 rs368657015 11:76916599-76916599 11:77205554-77205554 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.4544_4551delinsCA (p.Glu1515_Met1517delinsAla) indel Pathogenic/Likely pathogenic 43245 rs111033259 11:76909642-76909649 11:77198597-77198604 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.4821T>A (p.Tyr1607Ter) SNV Pathogenic/Likely pathogenic 43261 rs397516315 11:76910832-76910832 11:77199787-77199787 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter) SNV Pathogenic/Likely pathogenic 43270 rs111033182 11:76913402-76913402 11:77202357-77202357 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) SNV Pathogenic/Likely pathogenic 43230 rs111033181 11:76867068-76867068 11:77156022-77156022 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) deletion Pathogenic/Likely pathogenic 43223 rs111033347 11:76901754-76901754 11:77190709-77190709 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.4293G>A (p.Trp1431Ter) SNV Pathogenic/Likely pathogenic 43236 rs397516308 11:76905539-76905539 11:77194494-77194494 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) SNV Pathogenic/Likely pathogenic 43206 rs199897298 11:76895733-76895733 11:77184688-77184688 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) SNV Pathogenic/Likely pathogenic 43208 rs111033214 11:76900393-76900393 11:77189348-77189348 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) SNV Pathogenic/Likely pathogenic 43169 rs111033201 11:76885871-76885871 11:77174825-77174825 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp) SNV Pathogenic/Likely pathogenic 43151 rs111033206 11:76873900-76873900 11:77162854-77162854 RRG078 Rare Genetic Deafness LOXHD1 NM_144612.6(LOXHD1):c.4714C>T (p.Arg1572Ter) SNV Pathogenic/Likely pathogenic 30990 rs75949023 18:44104697-44104697 18:46524734-46524734 RRG078 Rare Genetic Deafness GPSM2 NM_013296.5(GPSM2):c.742del (p.Gly249fs) deletion Pathogenic/Likely pathogenic 35492 rs528069912 1:109441560-109441560 1:108898938-108898938 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.1200+1G>A SNV Pathogenic/Likely pathogenic 43138 rs397516283 11:76871329-76871329 11:77160283-77160283 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) SNV Pathogenic/Likely pathogenic 29662 rs80338950 13:20763170-20763170 13:20189031-20189031 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.35G>T (p.Gly12Val) SNV Pathogenic/Likely pathogenic 21387 rs1801002 13:20763686-20763686 13:20189547-20189547 RRG078 Rare Genetic Deafness COL11A2 NM_080680.3(COL11A2):c.3100C>T (p.Arg1034Cys) SNV Pathogenic/Likely pathogenic 17124 rs121912947 6:33139540-33139540 6:33171763-33171763 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.250G>C (p.Val84Leu) SNV Pathogenic/Likely pathogenic 17032 rs104894409 13:20763471-20763471 13:20189332-20189332 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.635G>A (p.Arg212His) SNV Pathogenic/Likely pathogenic 11850 rs28934610 11:76867950-76867950 11:77156904-77156904 RRG078 Rare Genetic Deafness ADGRV1 NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) SNV Pathogenic/Likely pathogenic 6798 rs121909762 5:89986808-89986808 5:90690991-90690991 RRG078 Rare Genetic Deafness ADGRV1 NM_032119.4(ADGRV1):c.1180del (p.Ser394fs) deletion Pathogenic/Likely pathogenic 666991 5:89923533-89923533 5:90627716-90627716 RRG078 Rare Genetic Deafness PCDH15 NM_033056.4(PCDH15):c.7C>T (p.Arg3Ter) SNV Pathogenic/Likely pathogenic 4931 rs137853001 10:56424016-56424016 10:54664256-54664256 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) SNV Pathogenic/Likely pathogenic 4836 rs111033254 7:107338530-107338530 7:107698085-107698085 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile) SNV Pathogenic/Likely pathogenic 4830 rs111033348 7:107314771-107314771 7:107674326-107674326 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) SNV Pathogenic/Likely pathogenic 4825 rs121908362 7:107350577-107350577 7:107710132-107710132 RRG078 Rare Genetic Deafness WFS1 NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr) SNV Pathogenic/Likely pathogenic 4520 rs28937893 4:6303668-6303668 4:6301941-6301941 RRG078 Rare Genetic Deafness WFS1 NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) SNV Pathogenic/Likely pathogenic 4526 rs74315205 4:6304112-6304112 4:6302385-6302385 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) SNV Pathogenic/Likely pathogenic 4820 rs111033244 7:107330570-107330570 7:107690125-107690125 RRG078 Rare Genetic Deafness TMC1 NM_138691.2(TMC1):c.1714G>A (p.Asp572Asn) SNV Pathogenic/Likely pathogenic 4102 rs121908072 9:75431077-75431077 9:72816161-72816161 RRG078 Rare Genetic Deafness USH2A NM_007123.5(USH2A):c.2299del (p.Glu767fs) deletion Pathogenic/Likely pathogenic 2351 rs80338903 1:216420437-216420437 1:216247095-216247095 RRG078 Rare Genetic Deafness MARVELD2 NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter) SNV Pathogenic/Likely pathogenic 1198 rs118203957 5:68728915-68728915 5:69433088-69433088 RRG078 Rare Genetic Deafness MYO15A NM_016239.4(MYO15A):c.9517+2T>C SNV Pathogenic/Likely pathogenic 666995 17:18064763-18064763 17:18161449-18161449 RRG078 Rare Genetic Deafness MYO15A NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met) SNV Pathogenic/Likely pathogenic 632271 rs749136456 17:18034837-18034837 17:18131523-18131523 RRG078 Rare Genetic Deafness LOXHD1 NM_144612.6(LOXHD1):c.5002C>T (p.Arg1668Ter) SNV Pathogenic/Likely pathogenic 554146 rs961865375 18:44102147-44102147 18:46522184-46522184 RRG078 Rare Genetic Deafness STRC NM_153700.2(STRC):c.4219-1G>A SNV Pathogenic/Likely pathogenic 505435 rs748854592 15:43896351-43896351 15:43604153-43604153 RRG078 Rare Genetic Deafness ADGRV1 NM_032119.4(ADGRV1):c.9877C>T (p.Arg3293Ter) SNV Pathogenic/Likely pathogenic 517415 rs769215629 5:90020777-90020777 5:90724960-90724960 RRG078 Rare Genetic Deafness GPSM2 NM_013296.5(GPSM2):c.1492C>T (p.Arg498Ter) SNV Pathogenic/Likely pathogenic 504591 rs370907055 1:109465090-109465090 1:108922468-108922468 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) SNV Pathogenic/Likely pathogenic 504509 rs143344549 1:215821999-215821999 1:215648657-215648657 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.2809+2T>A SNV Pathogenic/Likely pathogenic 504388 rs1553320397 1:216419925-216419925 1:216246583-216246583 RRG078 Rare Genetic Deafness OTOGL NM_173591.3(OTOGL):c.1913G>A (p.Trp638Ter) SNV Pathogenic/Likely pathogenic 498660 rs377708973 12:80655799-80655799 12:80262019-80262019 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.285+2T>C SNV Pathogenic/Likely pathogenic 489095 rs782292032 11:76858998-76858998 11:77147952-77147952 RRG078 Rare Genetic Deafness STRC NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter) SNV Pathogenic/Likely pathogenic 448908 rs144948296 15:43896948-43896948 15:43604750-43604750 RRG078 Rare Genetic Deafness OTOA NM_144672.4(OTOA):c.828del (p.Ser277fs) deletion Pathogenic/Likely pathogenic 402235 rs751447996 16:21709183-21709183 16:21697862-21697862 RRG078 Rare Genetic Deafness OTOG NM_001277269.1(OTOG):c.2500C>T (p.Gln834Ter) SNV Pathogenic/Likely pathogenic 417941 rs554847663 11:17596437-17596437 11:17574890-17574890 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.645del (p.Arg216fs) deletion Likely pathogenic 449487 rs1555341794 13:20763076-20763076 13:20188937-20188937 RRG078 Rare Genetic Deafness KCNQ4 NM_004700.4(KCNQ4):c.1667_1671dup (p.Val558fs) duplication Likely pathogenic 505873 rs1553168601 1:41300691-41300692 1:40835019-40835020 RRG078 Rare Genetic Deafness LARS2 NM_015340.3(LARS2):c.(?_2533)-70_*(70_?)del deletion Likely pathogenic 517278 3:45588773-45589092 3:45547281-45547600 RRG078 Rare Genetic Deafness LARS2 NM_015340.4(LARS2):c.1520C>G (p.Pro507Arg) SNV Likely pathogenic 517248 rs1553635112 3:45533289-45533289 3:45491797-45491797 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.1(SLC26A4):c.(?_305)_(415_?)dup (p.(?)) duplication Likely pathogenic 517189 7:107312583-107312693 7:107672138-107672248 RRG078 Rare Genetic Deafness MYO6 NM_004999.4(MYO6):c.535G>T (p.Asp179Tyr) SNV Likely pathogenic 517508 rs1554205683 6:76545655-76545655 6:75835938-75835938 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.1231G>C (p.Ala411Pro) SNV Likely pathogenic 504511 rs1293971731 7:107330650-107330650 7:107690205-107690205 RRG078 Rare Genetic Deafness SERPINB6 NM_004568.5(SERPINB6):c.679G>T (p.Glu227Ter) SNV Likely pathogenic 506010 rs1201327476 6:2949198-2949198 6:2948964-2948964 RRG078 Rare Genetic Deafness USH2A NM_206933.2(USH2A):c.9335_9371+8063del deletion Likely pathogenic 505591 1:216003270-216011369 1:215829928-215838027 RRG078 Rare Genetic Deafness GRXCR1 NM_001080476.2(GRXCR1):c.784C>T (p.Arg262Ter) SNV Likely pathogenic 505242 rs761349153 4:43032468-43032468 4:43030451-43030451 RRG078 Rare Genetic Deafness TMPRSS3 NM_001256317.3(TMPRSS3):c.310G>A (p.Glu104Lys) SNV Likely pathogenic 504522 rs373058706 21:43809050-43809050 21:42388941-42388941 RRG078 Rare Genetic Deafness COCH NM_004086.3(COCH):c.260G>C (p.Gly87Ala) SNV Likely pathogenic 517362 rs1555310861 14:31348037-31348037 14:30878831-30878831 RRG078 Rare Genetic Deafness ESRRB NM_004452.3(ESRRB):c.745C>T (p.Arg249Ter) SNV Likely pathogenic 517379 rs202023138 14:76949060-76949060 14:76482717-76482717 RRG078 Rare Genetic Deafness STRC NM_153700.2(STRC):c.3128_3138+5del deletion Likely pathogenic 505025 rs1555447538 15:43903692-43903707 15:43611494-43611509 RRG078 Rare Genetic Deafness OTOG NM_001277269.1(OTOG):c.7621+2T>C SNV Likely pathogenic 505310 rs1401870617 11:17656497-17656497 11:17634950-17634950 RRG078 Rare Genetic Deafness OTOG NM_001277269.1(OTOG):c.6591G>A (p.Trp2197Ter) SNV Likely pathogenic 517387 rs1193023501 11:17650706-17650706 11:17629159-17629159 RRG078 Rare Genetic Deafness MYO15A NM_016239.4(MYO15A):c.6893G>A (p.Arg2298Gln) SNV Likely pathogenic 517648 rs1001523088 17:18052203-18052203 17:18148889-18148889 RRG078 Rare Genetic Deafness LOXHD1 NM_144612.6(LOXHD1):c.2244+2T>G SNV Likely pathogenic 505444 rs1555681351 18:44149403-44149403 18:46569440-46569440 RRG078 Rare Genetic Deafness KCNE1 NM_000219.6(KCNE1):c.137A>G (p.Tyr46Cys) SNV Likely pathogenic 517181 rs1402178514 21:35821796-35821796 21:34449498-34449498 RRG078 Rare Genetic Deafness OTOG NM_001277269.1(OTOG):c.3493C>T (p.Arg1165Ter) SNV Likely pathogenic 505150 rs772430523 11:17617633-17617633 11:17596086-17596086 RRG078 Rare Genetic Deafness OTOG NM_001277269.1(OTOG):c.7389dup (p.Ala2464fs) duplication Likely pathogenic 505170 rs1157646266 11:17655699-17655700 11:17634152-17634153 RRG078 Rare Genetic Deafness CIB2 NM_006383.4(CIB2):c.300_309del (p.Glu100fs) deletion Likely pathogenic 505395 rs765741202 15:78401614-78401623 15:78109272-78109281 RRG078 Rare Genetic Deafness MYO3A NM_017433.5(MYO3A):c.2263-2A>C SNV Likely pathogenic 517589 rs1554833178 10:26432375-26432375 10:26143446-26143446 RRG078 Rare Genetic Deafness OTOG NM_001277269.1(OTOG):c.(?_3914)-61_(6474_?)+67del deletion Likely pathogenic 505208 11:17627343-17634379 11:17605796-17612832 RRG078 Rare Genetic Deafness TECTA NM_005422.2(TECTA):c.2719C>T (p.Arg907Ter) SNV Likely pathogenic 517590 rs764424917 11:121000698-121000698 11:121129989-121129989 RRG078 Rare Genetic Deafness OTOG NM_001277269.1(OTOG):c.4693G>T (p.Gly1565Ter) SNV Likely pathogenic 517223 rs897822685 11:17631504-17631504 11:17609957-17609957 RRG078 Rare Genetic Deafness ESRRB NM_004452.3(ESRRB):c.948dup (p.Leu317fs) duplication Likely pathogenic 505350 rs1555344820 14:76957946-76957947 14:76491603-76491604 RRG078 Rare Genetic Deafness ACTG1 NM_001614.5(ACTG1):c.617G>A (p.Arg206Gln) SNV Likely pathogenic 517300 rs1555666715 17:79478399-79478399 17:81511373-81511373 RRG078 Rare Genetic Deafness PAX3 NM_181458.4(PAX3):c.246C>G (p.Cys82Trp) SNV Likely pathogenic 547736 rs777297575 2:223161772-223161772 2:222297053-222297053 RRG078 Rare Genetic Deafness USH2A NM_007123.5(USH2A):c.4189_4193dup (p.Ile1399fs) duplication Likely pathogenic 554392 rs1553313308 1:216369952-216369953 1:216196610-216196611 RRG078 Rare Genetic Deafness SOX10 NM_006941.4(SOX10):c.424T>C (p.Trp142Arg) SNV Likely pathogenic 505653 rs1555939408 22:38379368-38379368 22:37983361-37983361 RRG078 Rare Genetic Deafness COL4A5 NM_033380.3(COL4A5):c.2537G>A (p.Gly846Glu) SNV Likely pathogenic 599105 rs1569497690 X:107863516-107863516 X:108620286-108620286 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) SNV Likely pathogenic 618010 rs745571683 10:73466716-73466716 10:71706959-71706959 RRG078 Rare Genetic Deafness OTOG NM_001277269.1(OTOG):c.5020G>T (p.Gly1674Ter) SNV Likely pathogenic 623765 rs1407028917 11:17631831-17631831 11:17610284-17610284 RRG078 Rare Genetic Deafness CDC14A NM_003672.4(CDC14A):c.520C>T (p.Arg174Ter) SNV Likely pathogenic 667367 1:100920961-100920961 1:100455405-100455405 RRG078 Rare Genetic Deafness POU4F3 NM_002700.3(POU4F3):c.384_385TG[4] (p.Ser130fs) short repeat Likely pathogenic 667014 5:145719372-145719373 5:146339809-146339810 RRG078 Rare Genetic Deafness ACTG1 NM_001614.5(ACTG1):c.1002G>C (p.Glu334Asp) SNV Likely pathogenic 667399 17:79477842-79477842 17:81510816-81510816 RRG078 Rare Genetic Deafness MYO15A NM_016239.4(MYO15A):c.3795C>A (p.Tyr1265Ter) SNV Likely pathogenic 666976 17:18029699-18029699 17:18126385-18126385 RRG078 Rare Genetic Deafness OTOGL NM_173591.3:c.825_4834-43del deletion Likely pathogenic 667428 12:80632665-80732812 RRG078 Rare Genetic Deafness EYA4 NC_000006.12:g.(?_133506020)_(133528840_?)del deletion Likely pathogenic 667003 6:133827158-133849978 RRG078 Rare Genetic Deafness EYA4 NM_004100.5(EYA4):c.452_455TTCT[1] (p.Ser153fs) short repeat Likely pathogenic 667002 6:133783487-133783490 6:133462349-133462352 RRG078 Rare Genetic Deafness LHFPL5 NM_182548.4(LHFPL5):c.89dup (p.Thr31fs) duplication Likely pathogenic 667378 6:35773532-35773533 6:35805755-35805756 RRG078 Rare Genetic Deafness MYO6 NM_004999.4(MYO6):c.258_259delinsCTTTACTAAA (p.Tyr87fs) indel Likely pathogenic 667412 6:76538327-76538328 6:75828610-75828611 RRG078 Rare Genetic Deafness EYA1 NM_000503.6(EYA1):c.1195dup (p.Leu399fs) duplication Likely pathogenic 667001 8:72129203-72129204 8:71216968-71216969 RRG078 Rare Genetic Deafness TMC1 NM_138691.3(TMC1):c.741+1G>A SNV Likely pathogenic 666986 9:75369801-75369801 9:72754885-72754885 RRG078 Rare Genetic Deafness TECTA NM_005422.2(TECTA):c.5235del (p.Ile1746fs) deletion Likely pathogenic 667390 11:121033040-121033040 11:121162331-121162331 RRG078 Rare Genetic Deafness TECTA NM_005422.2(TECTA):c.5692T>C (p.Cys1898Arg) SNV Likely pathogenic 667414 11:121038868-121038868 11:121168159-121168159 RRG078 Rare Genetic Deafness OTOG NM_001277269.2(OTOG):c.5962dup (p.Gln1988fs) duplication Likely pathogenic 666980 11:17632767-17632768 11:17611220-17611221 RRG078 Rare Genetic Deafness OTOGL NM_173591.3(OTOGL):c.12G>A (p.Trp4Ter) SNV Likely pathogenic 667385 12:80603250-80603250 12:80209470-80209470 RRG078 Rare Genetic Deafness OTOGL NM_173591.3(OTOGL):c.1051C>T (p.Arg351Ter) SNV Likely pathogenic 667382 12:80645498-80645498 12:80251718-80251718 RRG078 Rare Genetic Deafness OTOGL NM_173591.3(OTOGL):c.4574-2A>G SNV Likely pathogenic 667383 12:80730191-80730191 12:80336411-80336411 RRG078 Rare Genetic Deafness OTOGL NM_173591.3(OTOGL):c.4993_4997del (p.Asn1665fs) deletion Likely pathogenic 667384 12:80733012-80733016 12:80339232-80339236 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) SNV Likely pathogenic 2355 rs121912599 1:216498834-216498834 1:216325492-216325492 RRG078 Rare Genetic Deafness PCDH15 NM_033056.4(PCDH15):c.400C>G (p.Arg134Gly) SNV Likely pathogenic 4936 rs137853003 10:56128954-56128954 10:54369194-54369194 RRG078 Rare Genetic Deafness OTOF NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr) SNV Likely pathogenic 6143 rs80356586 2:26705309-26705309 2:26482441-26482441 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.1370C>T (p.Ala457Val) SNV Likely pathogenic 43144 rs111033286 11:76873192-76873192 11:77162146-77162146 RRG078 Rare Genetic Deafness RNR1 NC_012920.1:m.1555A>G SNV drug response 9628 rs267606617 MT:1555-1555 MT:1555-1555 RRG078 Rare Genetic Deafness MYO6 NM_004999.4(MYO6):c.737A>G (p.His246Arg) SNV Likely pathogenic 8581 rs121912560 6:76551016-76551016 6:75841299-75841299 RRG078 Rare Genetic Deafness POU3F4 NM_000307.5(POU3F4):c.695T>C (p.Ile232Thr) SNV Likely pathogenic 43350 rs397516335 X:82764027-82764027 X:83509019-83509019 RRG078 Rare Genetic Deafness ACTG1 NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys) SNV Likely pathogenic 18322 rs267606631 17:79478295-79478295 17:81511269-81511269 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) SNV Likely pathogenic 29924 rs201539845 11:76867967-76867967 11:77156921-77156921 RRG078 Rare Genetic Deafness OTOF NM_194248.3(OTOF):c.5713-2A>G SNV Likely pathogenic 48268 rs111033455 2:26683617-26683617 2:26460749-26460749 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.132+5G>A SNV Likely pathogenic 43140 rs397516284 11:76853873-76853873 11:77142827-77142827 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.2094+1G>C SNV Likely pathogenic 43172 rs111033404 11:76885961-76885961 11:77174915-77174915 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro) SNV Likely pathogenic 43133 rs397516281 11:76871225-76871225 11:77160179-77160179 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.1690+1G>A SNV Likely pathogenic 43155 rs111033389 11:76874035-76874035 11:77162989-77162989 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.1833_1838dup (p.Gln613_Phe614insHisSer) duplication Likely pathogenic 43159 rs397516290 11:76883828-76883829 11:77172782-77172783 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.19-1G>A SNV Likely pathogenic 43163 rs111033426 11:76853754-76853754 11:77142708-77142708 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.1952_1953insAG (p.Cys652fs) insertion Likely pathogenic 43165 rs111033510 11:76885818-76885819 11:77174772-77174773 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.3532del (p.Gln1178fs) deletion Likely pathogenic 43209 rs111033239 11:76900417-76900417 11:77189372-77189372 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.3533A>C (p.Gln1178Pro) SNV Likely pathogenic 43210 rs111033482 11:76900418-76900418 11:77189373-77189373 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.3541_3542CA[3] (p.Asn1182fs) short repeat Likely pathogenic 43211 rs111033390 11:76900425-76900426 11:77189380-77189381 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.3572G>A (p.Gly1191Asp) SNV Likely pathogenic 43212 rs397516301 11:76900457-76900457 11:77189412-77189412 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.2187+1G>A SNV Likely pathogenic 43175 rs111033290 11:76886511-76886511 11:77175465-77175465 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.458G>A (p.Cys153Tyr) SNV Likely pathogenic 43249 rs397516312 11:76867125-76867125 11:77156079-77156079 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.397C>T (p.His133Tyr) SNV Likely pathogenic 43228 rs111033403 11:76867064-76867064 11:77156018-77156018 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.397dup (p.His133fs) duplication Likely pathogenic 43229 rs111033187 11:76867057-76867058 11:77156011-77156012 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.4065del (p.His1355fs) deletion Likely pathogenic 43232 rs111033202 11:76903236-76903236 11:77192191-77192191 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.4411T>C (p.Ser1471Pro) SNV Likely pathogenic 43239 rs397516310 11:76908613-76908613 11:77197568-77197568 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.4442-2A>C SNV Likely pathogenic 43240 rs111033337 11:76909538-76909538 11:77198493-77198493 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.5208dup (p.Lys1737fs) duplication Likely pathogenic 43275 rs111033276 11:76914142-76914143 11:77203097-77203098 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.5327-11A>G SNV Likely pathogenic 43280 rs397516316 11:76915110-76915110 11:77204065-77204065 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.587T>C (p.Leu196Pro) SNV Likely pathogenic 43306 rs397516324 11:76867822-76867822 11:77156776-77156776 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.5945G>A (p.Gly1982Glu) SNV Likely pathogenic 43310 rs111033250 11:76919742-76919742 11:77208697-77208697 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.722G>A (p.Arg241His) SNV Likely pathogenic 43340 rs111033284 11:76868037-76868037 11:77156991-77156991 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro) SNV Likely pathogenic 43497 rs111033305 7:107330645-107330645 7:107690200-107690200 RRG078 Rare Genetic Deafness POU3F4 NM_000307.5(POU3F4):c.341G>A (p.Trp114Ter) SNV Likely pathogenic 43346 rs111033343 X:82763673-82763673 X:83508665-83508665 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.1548_1549insC (p.Ser517fs) insertion Likely pathogenic 43514 rs111033317 7:107338490-107338491 7:107698045-107698046 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr) SNV Likely pathogenic 43519 rs111033257 7:107340607-107340607 7:107700162-107700162 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.170C>G (p.Ser57Ter) SNV Likely pathogenic 43522 rs111033200 7:107303746-107303746 7:107663301-107663301 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) SNV Likely pathogenic 43528 rs397516424 7:107342431-107342431 7:107701986-107701986 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) SNV Likely pathogenic 43565 rs111033242 7:107315495-107315495 7:107675050-107675050 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) SNV Likely pathogenic 43533 rs111033318 7:107342495-107342495 7:107702050-107702050 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) SNV Likely pathogenic 43555 rs145254330 7:107312627-107312627 7:107672182-107672182 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.397_398delinsA (p.Ser133fs) indel Likely pathogenic 43556 rs111033400 7:107312675-107312676 7:107672230-107672231 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.101T>G (p.Met34Arg) SNV Likely pathogenic 44722 rs35887622 13:20763620-20763620 13:20189481-20189481 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.119C>A (p.Ala40Glu) SNV Likely pathogenic 44723 rs111033296 13:20763602-20763602 13:20189463-20189463 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.918+1G>T SNV Likely pathogenic 43571 rs111033245 7:107323800-107323800 7:107683355-107683355 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) SNV Likely pathogenic 43568 rs111033454 7:107323726-107323726 7:107683281-107683281 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) SNV Likely pathogenic 44740 rs104894408 13:20763687-20763687 13:20189548-20189548 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.279G>A (p.Met93Ile) SNV Likely pathogenic 44733 rs397516871 13:20763442-20763442 13:20189303-20189303 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys) SNV Likely pathogenic 44727 rs111033203 13:20763527-20763527 13:20189388-20189388 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter) SNV Likely pathogenic 44753 rs111033420 13:20763265-20763265 13:20189126-20189126 RRG078 Rare Genetic Deafness MYO6 NM_004999.4(MYO6):c.2111dup (p.Tyr705fs) duplication Likely pathogenic 45141 rs397517045 6:76589568-76589569 6:75879851-75879852 RRG078 Rare Genetic Deafness MYO15A NM_016239.4(MYO15A):c.6788G>A (p.Gly2263Asp) SNV Likely pathogenic 45756 rs397517285 17:18052098-18052098 17:18148784-18148784 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) SNV Likely pathogenic 46000 rs183431253 10:73550170-73550170 10:71790413-71790413 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.6412del (p.Glu2138fs) deletion Likely pathogenic 46009 rs111033473 10:73553096-73553096 10:71793339-71793339 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.1246_1266del (p.Ala416_Glu422del) deletion Likely pathogenic 45865 rs397517305 10:73405693-73405713 10:71645935-71645955 RRG078 Rare Genetic Deafness TMPRSS3 NM_001256317.3(TMPRSS3):c.1025G>A (p.Gly342Glu) SNV Likely pathogenic 46093 rs397517368 21:43800249-43800249 21:42380140-42380140 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.7921G>C (p.Asp2641His) SNV Likely pathogenic 46041 rs397517354 10:73565611-73565611 10:71805854-71805854 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) SNV Likely pathogenic 46029 rs370983472 10:73559386-73559386 10:71799629-71799629 RRG078 Rare Genetic Deafness TMPRSS3 NM_001256317.3(TMPRSS3):c.647G>A (p.Arg216His) SNV Likely pathogenic 46127 rs137853000 21:43803277-43803277 21:42383168-42383168 RRG078 Rare Genetic Deafness ADGRV1 NM_032119.4(ADGRV1):c.10229_10231dup (p.Val3410dup) duplication Likely pathogenic 46245 rs397517418 5:90024551-90024552 5:90728734-90728735 RRG078 Rare Genetic Deafness OTOF NM_194248.3(OTOF):c.2370_2371insA (p.Asp791fs) insertion Likely pathogenic 48193 rs111033370 2:26700319-26700320 2:26477451-26477452 RRG078 Rare Genetic Deafness EYA1 NM_000503.6(EYA1):c.1579T>A (p.Tyr527Asn) SNV Likely pathogenic 48103 rs397517918 8:72127640-72127640 8:71215405-71215405 RRG078 Rare Genetic Deafness EYA1 NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro) SNV Likely pathogenic 48106 rs397517920 8:72111606-72111606 8:71199371-71199371 RRG078 Rare Genetic Deafness USH1G NM_173477.5(USH1G):c.1373A>T (p.Asp458Val) SNV Likely pathogenic 48127 rs397517925 17:72915558-72915558 17:74919463-74919463 RRG078 Rare Genetic Deafness TMC1 NM_138691.2(TMC1):c.674C>T (p.Pro225Leu) SNV Likely pathogenic 47876 rs370088722 9:75369733-75369733 9:72754817-72754817 RRG078 Rare Genetic Deafness TMIE NM_147196.2(TMIE):c.211+3G>C SNV Likely pathogenic 47957 rs397517865 3:46747400-46747400 3:46705910-46705910 RRG078 Rare Genetic Deafness TMIE NM_147196.2(TMIE):c.251G>T (p.Arg84Leu) SNV Likely pathogenic 47958 rs397517866 3:46750655-46750655 3:46709165-46709165 RRG078 Rare Genetic Deafness OTOF NM_194248.3(OTOF):c.4228-1G>A SNV Likely pathogenic 48231 rs111033342 2:26690102-26690102 2:26467234-26467234 RRG078 Rare Genetic Deafness OTOF NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr) SNV Likely pathogenic 48240 rs111033405 2:26688621-26688621 2:26465753-26465753 RRG078 Rare Genetic Deafness OTOF NM_194248.3(OTOF):c.5193-1G>A SNV Likely pathogenic 48256 rs111033373 2:26685050-26685050 2:26462182-26462182 RRG078 Rare Genetic Deafness OTOF NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) SNV Likely pathogenic 48259 rs111033349 2:26684722-26684722 2:26461854-26461854 RRG078 Rare Genetic Deafness OTOF NM_194248.3(OTOF):c.5575_5576del (p.Lys1859fs) deletion Likely pathogenic 48264 rs111033446 2:26683856-26683857 2:26460988-26460989 RRG078 Rare Genetic Deafness OTOF NM_194248.3(OTOF):c.828C>A (p.Cys276Ter) SNV Likely pathogenic 48276 rs111033447 2:26717879-26717879 2:26495011-26495011 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.11231+1G>T SNV Likely pathogenic 48369 rs111033382 1:215933001-215933001 1:215759659-215759659 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.1227G>C (p.Trp409Cys) SNV Likely pathogenic 48393 rs397517979 1:216497611-216497611 1:216324269-216324269 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.12294+1G>C SNV Likely pathogenic 48394 rs111033526 1:215853490-215853490 1:215680148-215680148 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.12295-3T>A SNV Likely pathogenic 48395 rs111033518 1:215848961-215848961 1:215675619-215675619 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.3158-6A>G SNV Likely pathogenic 48497 rs397518010 1:216380779-216380779 1:216207437-216207437 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.5857+2T>C SNV Likely pathogenic 48544 rs397518022 1:216246229-216246229 1:216072887-216072887 RRG078 Rare Genetic Deafness USH2A NM_206933.3(USH2A):c.3543_3544AT[2] (p.Ile1183fs) short repeat Likely pathogenic 48503 rs397518013 1:216373232-216373233 1:216199890-216199891 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.12739G>A (p.Gly4247Arg) SNV Likely pathogenic 48406 rs397517982 1:215848514-215848514 1:215675172-215675172 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer) deletion Likely pathogenic 48558 rs111033268 1:216219796-216219809 1:216046454-216046467 RRG078 Rare Genetic Deafness MYO6 NM_004999.4(MYO6):c.238C>T (p.Arg80Ter) SNV Likely pathogenic 178957 rs727504567 6:76538307-76538307 6:75828590-75828590 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.-4+5G>A SNV Likely pathogenic 165245 rs727503425 7:107301305-107301305 7:107660860-107660860 RRG078 Rare Genetic Deafness USH2A NM_206933.3(USH2A):c.12295-?_14133+?del deletion Likely pathogenic 177859 1:215844314-215848958 1:215670972-215675616 RRG078 Rare Genetic Deafness OTOF NM_194248.3(OTOF):c.5407_5409GAG[1] (p.Glu1804del) short repeat Likely pathogenic 65810 rs397515607 2:26684685-26684687 2:26461817-26461819 RRG078 Rare Genetic Deafness OTOF NM_194248.3(OTOF):c.*129del deletion Likely pathogenic 180120 rs727505359 2:26680977-26680977 2:26458109-26458109 RRG078 Rare Genetic Deafness OTOF NM_194248.3(OTOF):c.5925del (p.Leu1976fs) deletion Likely pathogenic 177793 rs111033384 2:26682962-26682962 2:26460094-26460094 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.1707+6T>C SNV Likely pathogenic 179934 rs727505230 7:107340626-107340626 7:107700181-107700181 RRG078 Rare Genetic Deafness MYO6 NM_004999.4(MYO6):c.1383G>C (p.Glu461Asp) SNV Likely pathogenic 178931 rs727504548 6:76568620-76568620 6:75858903-75858903 RRG078 Rare Genetic Deafness MYO6 NM_004999.4(MYO6):c.3207_3212delinsATCCTACATACTTAAAATTTCTT (p.Ala1070fs) indel Likely pathogenic 179643 rs727505015 6:76617352-76617357 6:75907635-75907640 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile) SNV Likely pathogenic 164724 rs377670513 11:76922954-76922954 11:77211909-77211909 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) SNV Likely pathogenic 164693 rs727503329 11:76901883-76901883 11:77190838-77190838 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.3979G>A (p.Glu1327Lys) SNV Likely pathogenic 177723 rs373169422 11:76903150-76903150 11:77192105-77192105 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.5464A>C (p.Thr1822Pro) SNV Likely pathogenic 178921 rs727504541 11:76915258-76915258 11:77204213-77204213 RRG078 Rare Genetic Deafness ESRRB NM_004452.3(ESRRB):c.(?_1501)_(1527_?)del (p.?) deletion Likely pathogenic 163415 14:76967038-76967064 14:76500695-76500721 RRG078 Rare Genetic Deafness TECTA NM_005422.2(TECTA):c.6155G>A (p.Cys2052Tyr) SNV Likely pathogenic 165373 rs727503467 11:121058696-121058696 11:121187987-121187987 RRG078 Rare Genetic Deafness LRTOMT NM_001145308.4(LRTOMT):c.358+4A>C SNV Likely pathogenic 179792 rs545947177 11:71817260-71817260 11:72106214-72106214 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.1369C>T (p.Arg457Trp) SNV Likely pathogenic 178675 rs727504455 10:73406294-73406294 10:71646537-71646537 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.176G>A (p.Gly59Asp) SNV Likely pathogenic 163520 rs104894404 13:20763545-20763545 13:20189406-20189406 RRG078 Rare Genetic Deafness ESRRB NC_000014.9:g.(?_76439354)_(76500721_?)del deletion Likely pathogenic 179837 14:76905697-76967064 14:76439354-76500721 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.239A>C (p.Gln80Pro) SNV Likely pathogenic 177735 rs727504302 13:20763482-20763482 13:20189343-20189343 RRG078 Rare Genetic Deafness ESRRB NM_004452.3(ESRRB):c.1205_1209del (p.Thr402fs) deletion Likely pathogenic 178970 rs727504577 14:76964704-76964708 14:76498361-76498365 RRG078 Rare Genetic Deafness STRC NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys) SNV Likely pathogenic 165308 rs727503443 15:43895560-43895560 15:43603362-43603362 RRG078 Rare Genetic Deafness STRC NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly) SNV Likely pathogenic 165311 rs376104748 15:43896606-43896606 15:43604408-43604408 RRG078 Rare Genetic Deafness STRC NM_153700.2(STRC):c.5188C>T (p.Arg1730Ter) SNV Likely pathogenic 165298 rs139956283 15:43892209-43892209 15:43600011-43600011 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.109G>T (p.Val37Phe) SNV Likely pathogenic 179256 rs72474224 13:20763612-20763612 13:20189473-20189473 RRG078 Rare Genetic Deafness POU3F4 NM_000307.5(POU3F4):c.1086_*3del (p.Ter362TrpextTer?) deletion Likely pathogenic 164976 rs727503377 X:82764415-82764418 X:83509407-83509410 RRG078 Rare Genetic Deafness RNR1 NC_012920.1(MT-CYB):m.1027A>G SNV Likely pathogenic 178943 rs727504555 MT:1027-1027 MT:1027-1027 RRG078 Rare Genetic Deafness ESRRB NM_004452.3(ESRRB):c.1161G>A (p.Trp387Ter) SNV Likely pathogenic 163423 rs727503041 14:76964660-76964660 14:76498317-76498317 RRG078 Rare Genetic Deafness POU3F4 NM_000307.5(POU3F4):c.968G>A (p.Arg323His) SNV Likely pathogenic 179963 rs727505246 X:82764300-82764300 X:83509292-83509292 RRG078 Rare Genetic Deafness TMPRSS3 NM_001256317.3(TMPRSS3):c.727G>A (p.Gly243Arg) SNV Likely pathogenic 178549 rs372526764 21:43803197-43803197 21:42383088-42383088 RRG078 Rare Genetic Deafness MYO15A NM_016239.4(MYO15A):c.6610C>T (p.Arg2204Cys) SNV Likely pathogenic 164540 rs727503312 17:18051443-18051443 17:18148129-18148129 RRG078 Rare Genetic Deafness HSD17B4 NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr) SNV Likely pathogenic 137617 rs587777443 5:118860954-118860954 5:119525259-119525259 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.284A>T (p.Tyr95Phe) SNV Likely pathogenic 164654 rs797044489 11:76858995-76858995 11:77147949-77147949 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.-23G>T SNV Likely pathogenic 189155 rs786204734 13:20766922-20766922 13:20192783-20192783 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.287C>T (p.Thr96Met) SNV Likely pathogenic 179974 rs781811444 11:76866954-76866954 11:77155908-77155908 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser) SNV Likely pathogenic 177733 rs781988557 11:76892594-76892594 11:77181548-77181548 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) SNV Likely pathogenic 178667 rs797044511 11:76872026-76872026 11:77160980-77160980 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.1A>G (p.Met1Val) SNV Likely pathogenic 179567 rs797044518 11:76841681-76841681 11:77130635-77130635 RRG078 Rare Genetic Deafness WFS1 NM_006005.3(WFS1):c.2508G>C (p.Lys836Asn) SNV Likely pathogenic 228313 rs876657675 4:6304030-6304030 4:6302303-6302303 RRG078 Rare Genetic Deafness EYA4 NM_004100.5(EYA4):c.371-2A>C SNV Likely pathogenic 228260 rs876657644 6:133782250-133782250 6:133461112-133461112 RRG078 Rare Genetic Deafness MYO6 NM_004999.4(MYO6):c.2839C>T (p.Arg947Ter) SNV Likely pathogenic 228278 rs876657653 6:76599954-76599954 6:75890237-75890237 RRG078 Rare Genetic Deafness GSDME NM_004403.2(GSDME):c.(?_863)-60_(1257_?)+61del deletion Likely pathogenic 228250 7:24742318-24747933 7:24702699-24708314 RRG078 Rare Genetic Deafness ADGRV1 NM_032119.4(ADGRV1):c.12101T>G (p.Phe4034Cys) SNV Likely pathogenic 228265 rs876657647 5:90055386-90055386 5:90759569-90759569 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.12700A>C (p.Thr4234Pro) SNV Likely pathogenic 228311 rs577938494 1:215848553-215848553 1:215675211-215675211 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly) SNV Likely pathogenic 228396 rs757820624 7:107350580-107350580 7:107710135-107710135 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.380A>G (p.Asp127Gly) SNV Likely pathogenic 228491 rs876657754 10:73270920-73270920 10:71511163-71511163 RRG078 Rare Genetic Deafness TECTA NM_005422.2(TECTA):c.6163-2A>T SNV Likely pathogenic 228295 rs876657661 11:121059787-121059787 11:121189078-121189078 RRG078 Rare Genetic Deafness MYO3A NM_017433.5(MYO3A):c.4545+1G>C SNV Likely pathogenic 228277 rs876657652 10:26482241-26482241 10:26193312-26193312 RRG078 Rare Genetic Deafness OTOG NM_001277269.1(OTOG):c.2489_2490insACTGGACACCCA (p.Tyr830Ter) insertion Likely pathogenic 228283 rs876657656 11:17596425-17596426 11:17574878-17574879 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.2701G>A (p.Glu901Lys) SNV Likely pathogenic 228248 rs876657636 10:73462419-73462419 10:71702662-71702662 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) SNV Likely pathogenic 228282 rs876657655 11:76922207-76922207 11:77211162-77211162 RRG078 Rare Genetic Deafness MSRB3 NM_001031679.3(MSRB3):c.264-1G>A SNV Likely pathogenic 228274 rs201306709 12:65762777-65762777 12:65368997-65368997 RRG078 Rare Genetic Deafness OTOGL NM_173591.3(OTOGL):c.814_815del (p.Met272fs) deletion Likely pathogenic 228285 rs876657658 12:80632653-80632654 12:80238873-80238874 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.389G>C (p.Gly130Ala) SNV Likely pathogenic 228264 rs779018464 13:20763332-20763332 13:20189193-20189193 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.2904G>A (p.Glu968=) SNV Likely pathogenic 228280 rs111033233 11:76892635-76892635 11:77181589-77181589 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.314T>G (p.Val105Gly) SNV Likely pathogenic 228281 rs876657654 11:76866981-76866981 11:77155935-77155935 RRG078 Rare Genetic Deafness SYNE4 NC_000019.10:g.(?_36003337)_(36008681_?)del deletion Likely pathogenic 228292 19:36494239-36499583 19:36003337-36008681 RRG078 Rare Genetic Deafness SOX10 NM_006941.4(SOX10):c.401T>C (p.Leu134Pro) SNV Likely pathogenic 228291 rs876657660 22:38379391-38379391 22:37983384-37983384 RRG078 Rare Genetic Deafness SYNE4 NM_001039876.3(SYNE4):c.699G>A (p.Trp233Ter) SNV Likely pathogenic 228294 rs200484521 19:36497493-36497493 19:36006591-36006591 RRG078 Rare Genetic Deafness SYNE4 NM_001039876.3(SYNE4):c.559C>T (p.Arg187Ter) SNV Likely pathogenic 228293 rs750797779 19:36497711-36497711 19:36006809-36006809 RRG078 Rare Genetic Deafness CEACAM16 NM_001039213.4(CEACAM16):c.1186A>G (p.Thr396Ala) SNV Likely pathogenic 228513 rs755154488 19:45211378-45211378 19:44708106-44708106 RRG078 Rare Genetic Deafness MYO15A NM_016239.4(MYO15A):c.6437G>A (p.Arg2146Gln) SNV Likely pathogenic 228275 rs760980785 17:18049349-18049349 17:18146035-18146035 RRG078 Rare Genetic Deafness MYO15A NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His) SNV Likely pathogenic 228276 rs184435771 17:18058028-18058028 17:18154714-18154714 RRG078 Rare Genetic Deafness ESRRB NM_004452.3(ESRRB):c.1023_1024TG[1] (p.Val342fs) short repeat Likely pathogenic 228259 rs876657643 14:76958025-76958026 14:76491682-76491683 RRG078 Rare Genetic Deafness MYO15A NM_016239.4(MYO15A):c.9620G>A (p.Arg3207His) SNV Conflicting interpretations of pathogenicity 228973 rs199621031 17:18066565-18066565 17:18163251-18163251 RRG078 Rare Genetic Deafness TECTA NM_005422.2(TECTA):c.5597C>T (p.Thr1866Met) SNV Conflicting interpretations of pathogenicity 236058 rs140236996 11:121038773-121038773 11:121168064-121168064 RRG078 Rare Genetic Deafness MYO15A NM_016239.4(MYO15A):c.6764+2T>A SNV Conflicting interpretations of pathogenicity 289237 rs763975867 17:18051884-18051884 17:18148570-18148570 RRG078 Rare Genetic Deafness MYO15A NM_016239.4(MYO15A):c.6863C>T (p.Ser2288Leu) SNV Conflicting interpretations of pathogenicity 322158 rs886052676 17:18052173-18052173 17:18148859-18148859 RRG078 Rare Genetic Deafness TMC1 NM_138691.2(TMC1):c.1141T>A (p.Tyr381Asn) SNV Conflicting interpretations of pathogenicity 229314 rs749491943 9:75404150-75404150 9:72789234-72789234 RRG078 Rare Genetic Deafness OTOA NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) SNV Conflicting interpretations of pathogenicity 218841 rs200988634 16:21747639-21747639 16:21736318-21736318 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.486-1G>C SNV Conflicting interpretations of pathogenicity 228413 rs876657730 1:216592022-216592022 1:216418680-216418680 RRG078 Rare Genetic Deafness WFS1 NM_006005.3(WFS1):c.1060_1062del (p.Phe354del) deletion Conflicting interpretations of pathogenicity 228420 rs876657735 4:6302581-6302583 4:6300854-6300856 RRG078 Rare Genetic Deafness TBC1D24 NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) SNV Conflicting interpretations of pathogenicity 207499 rs376712059 16:2546606-2546606 16:2496605-2496605 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) SNV Conflicting interpretations of pathogenicity 188878 rs542620119 7:107314747-107314747 7:107674302-107674302 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) SNV Conflicting interpretations of pathogenicity 164664 rs797044491 11:76869450-76869450 11:77158404-77158404 RRG078 Rare Genetic Deafness GIPC3 NM_133261.3(GIPC3):c.122C>A (p.Thr41Lys) SNV Conflicting interpretations of pathogenicity 163502 rs727503062 19:3585717-3585717 19:3585719-3585719 RRG078 Rare Genetic Deafness EYA4 NC_000006.11:g.133783902_(133785996_?)del deletion Conflicting interpretations of pathogenicity 163445 6:133783902-133785996 6:133462764-133464858 RRG078 Rare Genetic Deafness TMC1 NM_138691.2(TMC1):c.1333C>T (p.Arg445Cys) SNV Conflicting interpretations of pathogenicity 179070 rs372710475 9:75406910-75406910 9:72791994-72791994 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.35dup (p.Val13fs) duplication Conflicting interpretations of pathogenicity 94392 rs80338939 13:20763685-20763686 13:20189546-20189547 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.653T>A (p.Val218Glu) SNV Conflicting interpretations of pathogenicity 48564 rs397518026 1:216538426-216538426 1:216365084-216365084 RRG078 Rare Genetic Deafness OTOF NM_194248.3(OTOF):c.1045+2T>G SNV Conflicting interpretations of pathogenicity 48163 rs111033341 2:26712077-26712077 2:26489209-26489209 RRG078 Rare Genetic Deafness LOXHD1 NM_144612.6(LOXHD1):c.2497C>T (p.Arg833Ter) SNV Conflicting interpretations of pathogenicity 47930 rs188119157 18:44143129-44143129 18:46563166-46563166 RRG078 Rare Genetic Deafness TMC1 NM_138691.2(TMC1):c.1763+3A>G SNV Conflicting interpretations of pathogenicity 47864 rs370898981 9:75431129-75431129 9:72816213-72816213 RRG078 Rare Genetic Deafness CLRN1 NM_001195794.1(CLRN1):c.127G>A (p.Gly43Arg) SNV Conflicting interpretations of pathogenicity 48142 rs111033434 3:150690369-150690369 3:150972582-150972582 RRG078 Rare Genetic Deafness TMPRSS3 NM_001256317.3(TMPRSS3):c.325C>T (p.Arg109Trp) SNV Conflicting interpretations of pathogenicity 46114 rs201632198 21:43808633-43808633 21:42388524-42388524 RRG078 Rare Genetic Deafness TMPRSS3 NM_001256317.3(TMPRSS3):c.1340T>C (p.Met447Thr) SNV Conflicting interpretations of pathogenicity 46104 rs201018751 21:43795829-43795829 21:42375720-42375720 RRG078 Rare Genetic Deafness WFS1 NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) SNV Conflicting interpretations of pathogenicity 45443 rs146670741 4:6303408-6303408 4:6301681-6301681 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) SNV Conflicting interpretations of pathogenicity 44749 rs76434661 13:20763305-20763305 13:20189166-20189166 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) SNV Conflicting interpretations of pathogenicity 43532 rs111033309 7:107342483-107342483 7:107702038-107702038 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) SNV Conflicting interpretations of pathogenicity 43298 rs397516323 11:76918395-76918395 11:77207350-77207350 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) SNV Conflicting interpretations of pathogenicity 21389 rs80338941 13:20763665-20763665 13:20189526-20189526 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) SNV Conflicting interpretations of pathogenicity 17007 rs80338950 13:20763170-20763170 13:20189031-20189031 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) SNV Conflicting interpretations of pathogenicity 17016 rs80338945 13:20763452-20763452 13:20189313-20189313 RRG078 Rare Genetic Deafness CDH23 NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) SNV Conflicting interpretations of pathogenicity 4922 rs111033271 10:73553127-73553127 10:71793370-71793370 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) SNV Conflicting interpretations of pathogenicity 4842 rs111033212 7:107329499-107329499 7:107689054-107689054 RRG078 Rare Genetic Deafness CLRN1 NM_001195794.1(CLRN1):c.144T>G (p.Asn48Lys) SNV Conflicting interpretations of pathogenicity 4395 rs111033258 3:150690352-150690352 3:150972565-150972565 RRG078 Rare Genetic Deafness CLRN1-AS1 NM_001195794.1(CLRN1):c.144T>G (p.Asn48Lys) SNV Conflicting interpretations of pathogenicity 4395 rs111033258 3:150690352-150690352 3:150972565-150972565 RRG078 Rare Genetic Deafness TMPRSS3 NM_024022.3(TMPRSS3):c.1306C>T (p.Arg436Cys) SNV Conflicting interpretations of pathogenicity 666988 21:43795866-43795866 21:42375757-42375757 RRG078 Rare Genetic Deafness GJB2 NM_004004.6(GJB2):c.110T>C (p.Val37Ala) SNV Conflicting interpretations of pathogenicity 449490 rs141774369 13:20763611-20763611 13:20189472-20189472 RRG078 Rare Genetic Deafness USH2A NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg) SNV Conflicting interpretations of pathogenicity 418534 rs1064793287 1:216373372-216373372 1:216200030-216200030 RRG078 Rare Genetic Deafness ADGRV1 NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp) SNV Conflicting interpretations of pathogenicity 430362 rs1131691924 5:90087011-90087011 5:90791194-90791194 RRG078 Rare Genetic Deafness SLC26A4 NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) SNV Uncertain significance 43541 rs397516427 7:107350554-107350554 7:107710109-107710109 RRG078 Rare Genetic Deafness MYO7A NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu) SNV Uncertain significance 178283 rs369458838 11:76901818-76901818 11:77190773-77190773 RRG078 Rare Genetic Deafness CATSPER2 NM_172095.4(CATSPER2):c.1179-2A>T SNV Benign 402497 rs7169097 15:43925134-43925134 15:43632936-43632936 RRG078 Rare Genetic Deafness CATSPER2 NM_172095.4(CATSPER2):c.1179-3A>C SNV Benign 517822 rs199882327 15:43925135-43925135 15:43632937-43632937 RRG078 Rare Genetic Deafness FLNC NM_001458.4(FLNC):c.7688A>G (p.Tyr2563Cys) SNV Pathogenic 549664 rs1563005534 7:128497298-128497298 7:128857244-128857244 RST002 Restrictive Cardiomyopathy TNNI3 NM_000363.5(TNNI3):c.575G>A (p.Arg192His) SNV Pathogenic 12424 rs104894729 19:55663260-55663260 19:55151892-55151892 RST002 Restrictive Cardiomyopathy MYH7 NM_000257.4(MYH7):c.2513C>T (p.Pro838Leu) SNV Pathogenic 42910 rs397516153 14:23894144-23894144 14:23424935-23424935 RST002 Restrictive Cardiomyopathy TNNI3 NM_000363.5(TNNI3):c.509G>A (p.Arg170Gln) SNV Pathogenic 165516 rs727503503 19:55665438-55665438 19:55154070-55154070 RST002 Restrictive Cardiomyopathy TNNI3 NM_000363.5(TNNI3):c.522G>C (p.Lys174Asn) SNV Pathogenic 180551 rs730880231 19:55665425-55665425 19:55154057-55154057 RST002 Restrictive Cardiomyopathy TNNI3 NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys) SNV Pathogenic 165510 rs727503499 19:55663261-55663261 19:55151893-55151893 RST002 Restrictive Cardiomyopathy TNNI3 NM_000363.5(TNNI3):c.508C>T (p.Arg170Trp) SNV Pathogenic/Likely pathogenic 179285 rs727503504 19:55665439-55665439 19:55154071-55154071 RST002 Restrictive Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) SNV Pathogenic/Likely pathogenic 165549 rs727503513 1:201334420-201334420 1:201365292-201365292 RST002 Restrictive Cardiomyopathy MYH7 NM_000257.4(MYH7):c.2302G>A (p.Gly768Arg) SNV Pathogenic/Likely pathogenic 164337 rs727503260 14:23894612-23894612 14:23425403-23425403 RST002 Restrictive Cardiomyopathy MYH7 NM_000257.4(MYH7):c.1157A>G (p.Tyr386Cys) SNV Likely pathogenic 164378 rs727503269 14:23898538-23898538 14:23429329-23429329 RST002 Restrictive Cardiomyopathy RNR1 NC_012920.1:m.1555A>G SNV drug response 9628 rs267606617 MT:1555-1555 MT:1555-1555 RST002 Restrictive Cardiomyopathy TTN NM_001267550.2(TTN):c.68329+2_68329+3insTT insertion Likely pathogenic 691834 2:179443335-179443336 2:178578608-178578609 RST002 Restrictive Cardiomyopathy FLNC NM_001458.4(FLNC):c.6031G>A (p.Gly2011Arg) SNV Likely pathogenic 472122 rs1554400962 7:128492908-128492908 7:128852854-128852854 RST002 Restrictive Cardiomyopathy FLNC NM_001458.4(FLNC):c.6892C>T (p.Pro2298Ser) SNV Likely pathogenic 544829 rs1554401403 7:128494631-128494631 7:128854577-128854577 RST002 Restrictive Cardiomyopathy FLNC-AS1 NM_001458.4(FLNC):c.6892C>T (p.Pro2298Ser) SNV Likely pathogenic 544829 rs1554401403 7:128494631-128494631 7:128854577-128854577 RST002 Restrictive Cardiomyopathy FLNC NM_001458.4(FLNC):c.6893C>T (p.Pro2298Leu) SNV Conflicting interpretations of pathogenicity 549663 rs1382734231 7:128494632-128494632 7:128854578-128854578 RST002 Restrictive Cardiomyopathy TNNI3 NM_000363.5(TNNI3):c.624dup (p.Glu209Ter) duplication Conflicting interpretations of pathogenicity 636992 19:55663210-55663211 19:55151842-55151843 RST002 Restrictive Cardiomyopathy TTN NM_001267550.2(TTN):c.25064-4A>G SNV Conflicting interpretations of pathogenicity 691826 2:179582541-179582541 2:178717814-178717814 RST002 Restrictive Cardiomyopathy ACTA1 NM_001100.4(ACTA1):c.786G>C (p.Thr262=) SNV Conflicting interpretations of pathogenicity 706552 1:229567763-229567763 1:229432016-229432016 RST002 Restrictive Cardiomyopathy ACTA1 NM_001100.4(ACTA1):c.888T>C (p.Tyr296=) SNV Conflicting interpretations of pathogenicity 740066 1:229567570-229567570 1:229431823-229431823 RST002 Restrictive Cardiomyopathy ACTA1 NM_001100.4(ACTA1):c.453C>G (p.Thr151=) SNV Conflicting interpretations of pathogenicity 873885 1:229568304-229568304 1:229432557-229432557 RST002 Restrictive Cardiomyopathy ACTA1 NM_001100.4(ACTA1):c.*248G>A SNV Conflicting interpretations of pathogenicity 876668 1:229566998-229566998 1:229431251-229431251 RST002 Restrictive Cardiomyopathy ACTA1 NM_001100.3(ACTA1):c.1125A>G (p.Lys375=) SNV Conflicting interpretations of pathogenicity 464116 rs142311664 1:229567255-229567255 1:229431508-229431508 RST002 Restrictive Cardiomyopathy MYH7 NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser) SNV Conflicting interpretations of pathogenicity 164289 rs727503244 14:23886782-23886782 14:23417573-23417573 RST002 Restrictive Cardiomyopathy CACNA1C NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly) SNV Conflicting interpretations of pathogenicity 93411 rs201492706 12:2788668-2788668 12:2679502-2679502 RST002 Restrictive Cardiomyopathy ACTA1 NM_001100.3(ACTA1):c.132C>T (p.Gly44=) SNV Conflicting interpretations of pathogenicity 128259 rs146956806 1:229568625-229568625 1:229432878-229432878 RST002 Restrictive Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.601-8C>T SNV Conflicting interpretations of pathogenicity 43657 rs397516475 1:201331530-201331530 1:201362402-201362402 RST002 Restrictive Cardiomyopathy DSP NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp) SNV Conflicting interpretations of pathogenicity 44910 rs148041814 6:7580912-7580912 6:7580679-7580679 RST002 Restrictive Cardiomyopathy MYOZ2 NM_016599.5(MYOZ2):c.488T>C (p.Leu163Ser) SNV Conflicting interpretations of pathogenicity 45784 rs143345726 4:120085477-120085477 4:119164322-119164322 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.5(ACTC1):c.28C>A (p.Leu10Met) SNV Conflicting interpretations of pathogenicity 50936 rs397517057 15:35086982-35086982 15:34794781-34794781 RST002 Restrictive Cardiomyopathy TNNI3 NM_000363.5(TNNI3):c.12-7del deletion Conflicting interpretations of pathogenicity 43361 rs370714315 19:55668683-55668683 19:55157315-55157315 RST002 Restrictive Cardiomyopathy ACTA1 NM_001100.3(ACTA1):c.454+3G>T SNV Conflicting interpretations of pathogenicity 296057 rs200976037 1:229568300-229568300 1:229432553-229432553 RST002 Restrictive Cardiomyopathy ACTA1 NM_001100.3(ACTA1):c.108C>T (p.Ile36=) SNV Conflicting interpretations of pathogenicity 296059 rs143948837 1:229568755-229568755 1:229433008-229433008 RST002 Restrictive Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.720-5T>G SNV Conflicting interpretations of pathogenicity 181605 rs730881092 1:201330502-201330502 1:201361374-201361374 RST002 Restrictive Cardiomyopathy DSP NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) SNV Conflicting interpretations of pathogenicity 199875 rs139799237 6:7576670-7576670 6:7576437-7576437 RST002 Restrictive Cardiomyopathy DMD NM_004006.2(DMD):c.2273A>C (p.Asp758Ala) SNV Conflicting interpretations of pathogenicity 201758 rs750526692 X:32536144-32536144 X:32518027-32518027 RST002 Restrictive Cardiomyopathy ACTA1 NM_001100.3(ACTA1):c.867C>T (p.Ile289=) SNV Conflicting interpretations of pathogenicity 210091 rs140074813 1:229567591-229567591 1:229431844-229431844 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*518A>G SNV Conflicting interpretations of pathogenicity 315690 rs115295911 15:35082095-35082095 15:34789894-34789894 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.5(ACTC1):c.809-58TG[21] short repeat Conflicting interpretations of pathogenicity 315708 rs59431308 15:35083509-35083512 15:34791308-34791311 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*846G>A SNV Conflicting interpretations of pathogenicity 315676 rs78596978 15:35081767-35081767 15:34789566-34789566 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*757G>A SNV Conflicting interpretations of pathogenicity 315679 rs78727649 15:35081856-35081856 15:34789655-34789655 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.5(ACTC1):c.1053G>C (p.Leu351=) SNV Conflicting interpretations of pathogenicity 315702 rs151321743 15:35082694-35082694 15:34790493-34790493 RST002 Restrictive Cardiomyopathy DNAAF3 NM_001256715.2(DNAAF3):c.531C>T (p.Gly177=) SNV Conflicting interpretations of pathogenicity 330217 rs559008223 19:55673143-55673143 19:55161775-55161775 RST002 Restrictive Cardiomyopathy TNNI3 NM_001256715.2(DNAAF3):c.531C>T (p.Gly177=) SNV Conflicting interpretations of pathogenicity 330217 rs559008223 19:55673143-55673143 19:55161775-55161775 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*1513T>C SNV Conflicting interpretations of pathogenicity 315655 rs113063427 15:35081100-35081100 15:34788899-34788899 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.5(ACTC1):c.809-58TG[17] short repeat Conflicting interpretations of pathogenicity 315709 rs59431308 15:35083509-35083520 15:34791308-34791319 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*1004A>G SNV Conflicting interpretations of pathogenicity 315669 rs116034611 15:35081609-35081609 15:34789408-34789408 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.5(ACTC1):c.-36C>G SNV Conflicting interpretations of pathogenicity 315713 rs886051091 15:35087720-35087720 15:34795519-34795519 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.5(ACTC1):c.537T>A (p.Arg179=) SNV Conflicting interpretations of pathogenicity 315711 rs750131288 15:35084688-35084688 15:34792487-34792487 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.5(ACTC1):c.-23+15G>T SNV Conflicting interpretations of pathogenicity 315712 rs566201991 15:35087692-35087692 15:34795491-34795491 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.-109C>A SNV Uncertain significance 315720 rs886051097 15:35087793-35087793 15:34795592-34795592 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.-175C>A SNV Uncertain significance 315721 rs886051098 15:35087859-35087859 15:34795658-34795658 RST002 Restrictive Cardiomyopathy TNNI3 NM_000363.5(TNNI3):c.157C>T (p.Leu53=) SNV Uncertain significance 330200 rs763981651 19:55667694-55667694 19:55156326-55156326 RST002 Restrictive Cardiomyopathy TNNI3 NM_000363.5(TNNI3):c.-85A>C SNV Uncertain significance 330201 rs186540595 19:55669042-55669042 19:55157674-55157674 RST002 Restrictive Cardiomyopathy TNNI3 NM_000363.5(TNNI3):c.-133G>T SNV Uncertain significance 330203 rs886054636 19:55669090-55669090 19:55157722-55157722 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*247G>A SNV Uncertain significance 315698 rs886051088 15:35082366-35082366 15:34790165-34790165 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.5(ACTC1):c.-55_-53CCG[3] short repeat Uncertain significance 315714 rs886051092 15:35087733-35087734 15:34795532-34795533 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.5(ACTC1):c.-55C>A SNV Uncertain significance 315715 rs886051093 15:35087739-35087739 15:34795538-34795538 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*2168G>T SNV Uncertain significance 315646 rs886051061 15:35080445-35080445 15:34788244-34788244 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*1987G>A SNV Uncertain significance 315648 rs886051062 15:35080626-35080626 15:34788425-34788425 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*1797C>A SNV Uncertain significance 315650 rs886051063 15:35080816-35080816 15:34788615-34788615 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*422T>A SNV Uncertain significance 315692 rs886051084 15:35082191-35082191 15:34789990-34789990 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*284G>A SNV Uncertain significance 315696 rs886051087 15:35082329-35082329 15:34790128-34790128 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*224G>C SNV Uncertain significance 315699 rs551820554 15:35082389-35082389 15:34790188-34790188 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.5(ACTC1):c.809-58TG[25] short repeat Uncertain significance 315710 rs59431308 15:35083508-35083509 15:34791307-34791308 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.5(ACTC1):c.809-58TG[26] short repeat Uncertain significance 315706 rs59431308 15:35083508-35083509 15:34791307-34791308 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*983C>T SNV Uncertain significance 315670 rs549986676 15:35081630-35081630 15:34789429-34789429 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*777C>T SNV Uncertain significance 315677 rs886051074 15:35081836-35081836 15:34789635-34789635 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*775C>A SNV Uncertain significance 315678 rs886051075 15:35081838-35081838 15:34789637-34789637 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*737C>T SNV Uncertain significance 315682 rs868013105 15:35081876-35081876 15:34789675-34789675 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*679C>G SNV Uncertain significance 315684 rs886051078 15:35081934-35081934 15:34789733-34789733 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*674C>A SNV Uncertain significance 315685 rs886051079 15:35081939-35081939 15:34789738-34789738 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*646C>A SNV Uncertain significance 315686 rs886051080 15:35081967-35081967 15:34789766-34789766 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*708G>T SNV Uncertain significance 315683 rs886051077 15:35081905-35081905 15:34789704-34789704 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*643C>A SNV Uncertain significance 315687 rs886051081 15:35081970-35081970 15:34789769-34789769 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*619A>T SNV Uncertain significance 315688 rs886051082 15:35081994-35081994 15:34789793-34789793 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*561C>A SNV Uncertain significance 315689 rs886051083 15:35082052-35082052 15:34789851-34789851 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*1471G>A SNV Uncertain significance 315658 rs886051067 15:35081142-35081142 15:34788941-34788941 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*1090A>G SNV Uncertain significance 315665 rs886051070 15:35081523-35081523 15:34789322-34789322 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*1070A>C SNV Uncertain significance 315666 rs886051071 15:35081543-35081543 15:34789342-34789342 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*2292C>T SNV Uncertain significance 315643 rs886051059 15:35080321-35080321 15:34788120-34788120 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*1893C>T SNV Uncertain significance 315649 rs185151197 15:35080720-35080720 15:34788519-34788519 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.5(ACTC1):c.809-58TG[24] short repeat Uncertain significance 315705 rs59431308 15:35083508-35083509 15:34791307-34791308 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*1781C>T SNV Uncertain significance 315651 rs560065427 15:35080832-35080832 15:34788631-34788631 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.-79G>A SNV Uncertain significance 315717 rs886051094 15:35087763-35087763 15:34795562-34795562 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.-101G>T SNV Uncertain significance 315718 rs886051095 15:35087785-35087785 15:34795584-34795584 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.-228C>A SNV Uncertain significance 315723 rs370499568 15:35087912-35087912 15:34795711-34795711 RST002 Restrictive Cardiomyopathy TNNI3 NM_000363.5(TNNI3):c.-103C>T SNV Uncertain significance 330202 rs557391836 19:55669060-55669060 19:55157692-55157692 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*742C>G SNV Uncertain significance 315680 rs746732857 15:35081871-35081871 15:34789670-34789670 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*739G>T SNV Uncertain significance 315681 rs886051076 15:35081874-35081874 15:34789673-34789673 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.5(ACTC1):c.*35A>T SNV Uncertain significance 315701 rs748053539 15:35082578-35082578 15:34790377-34790377 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.5(ACTC1):c.978C>A (p.Thr326=) SNV Uncertain significance 315703 rs886051089 15:35083327-35083327 15:34791126-34791126 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.5(ACTC1):c.809-12_809-11insGT insertion Uncertain significance 315704 rs774238821 15:35083507-35083508 15:34791306-34791307 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.5(ACTC1):c.809-58TG[22] short repeat Uncertain significance 315707 rs59431308 15:35083509-35083510 15:34791308-34791309 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.-105C>A SNV Uncertain significance 315719 rs886051096 15:35087789-35087789 15:34795588-34795588 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.-194C>A SNV Uncertain significance 315722 rs886051099 15:35087878-35087878 15:34795677-34795677 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*1753G>T SNV Uncertain significance 315652 rs886051064 15:35080860-35080860 15:34788659-34788659 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*1482G>T SNV Uncertain significance 315657 rs886051066 15:35081131-35081131 15:34788930-34788930 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*1318T>G SNV Uncertain significance 315660 rs759530643 15:35081295-35081295 15:34789094-34789094 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*1133G>T SNV Uncertain significance 315663 rs750686235 15:35081480-35081480 15:34789279-34789279 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*935G>T SNV Uncertain significance 315671 rs766542832 15:35081678-35081678 15:34789477-34789477 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*865T>C SNV Uncertain significance 315675 rs886051073 15:35081748-35081748 15:34789547-34789547 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*393G>T SNV Uncertain significance 315693 rs886051085 15:35082220-35082220 15:34790019-34790019 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*307T>A SNV Uncertain significance 315695 rs886051086 15:35082306-35082306 15:34790105-34790105 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.5(ACTC1):c.*40G>A SNV Uncertain significance 315700 rs377546862 15:35082573-35082573 15:34790372-34790372 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*1502G>T SNV Uncertain significance 315656 rs886051065 15:35081111-35081111 15:34788910-34788910 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*1221A>T SNV Uncertain significance 315661 rs886051068 15:35081392-35081392 15:34789191-34789191 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*1219C>T SNV Uncertain significance 315662 rs139559367 15:35081394-35081394 15:34789193-34789193 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*1115A>T SNV Uncertain significance 315664 rs886051069 15:35081498-35081498 15:34789297-34789297 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*1062G>A SNV Uncertain significance 315667 rs886051072 15:35081551-35081551 15:34789350-34789350 RST002 Restrictive Cardiomyopathy ACTA1 NM_001100.3(ACTA1):c.809-13_809-12dup duplication Uncertain significance 296053 rs201427429 1:229567660-229567661 1:229431913-229431914 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*2275C>T SNV Uncertain significance 315644 rs140004011 15:35080338-35080338 15:34788137-34788137 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*2206C>G SNV Uncertain significance 315645 rs886051060 15:35080407-35080407 15:34788206-34788206 RST002 Restrictive Cardiomyopathy ACTA1 NM_001100.3(ACTA1):c.-66_-65delinsTC indel Uncertain significance 296061 rs386640096 1:229569803-229569804 1:229434056-229434057 RST002 Restrictive Cardiomyopathy ACTA1 NM_001100.3(ACTA1):c.966G>A (p.Leu322=) SNV Uncertain significance 296052 rs765996798 1:229567492-229567492 1:229431745-229431745 RST002 Restrictive Cardiomyopathy ACTA1 NM_001100.3(ACTA1):c.809-14_809-13insA insertion Uncertain significance 296054 rs749384329 1:229567662-229567663 1:229431915-229431916 RST002 Restrictive Cardiomyopathy ACTA1 NM_001100.3(ACTA1):c.129+14T>C SNV Uncertain significance 296058 rs886046076 1:229568720-229568720 1:229432973-229432973 RST002 Restrictive Cardiomyopathy ACTA1 NM_001100.3(ACTA1):c.809-16_809-15insG insertion Uncertain significance 296055 rs746125735 1:229567664-229567665 1:229431917-229431918 RST002 Restrictive Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.-22G>T SNV Uncertain significance 294897 rs886045829 1:201346758-201346758 1:201377630-201377630 RST002 Restrictive Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.691A>G (p.Ile231Val) SNV Uncertain significance 294895 rs886045828 1:201331069-201331069 1:201361941-201361941 RST002 Restrictive Cardiomyopathy ACTA1 NM_001100.3(ACTA1):c.1113C>G (p.Ile371Met) SNV Uncertain significance 296051 rs886046075 1:229567267-229567267 1:229431520-229431520 RST002 Restrictive Cardiomyopathy PRDM16 NM_022114.4(PRDM16):c.2447A>G (p.Asn816Ser) SNV Uncertain significance 60726 rs397514743 1:3329208-3329208 1:3412644-3412644 RST002 Restrictive Cardiomyopathy DSP NM_004415.4(DSP):c.4385_4386delinsTT (p.Ser1462Ile) indel Uncertain significance 180341 rs730880090 6:7580808-7580809 6:7580575-7580576 RST002 Restrictive Cardiomyopathy MYH7 NM_000257.4(MYH7):c.298G>A (p.Ala100Thr) SNV Uncertain significance 180430 rs730880154 14:23902340-23902340 14:23433131-23433131 RST002 Restrictive Cardiomyopathy SYNE2 NM_182914.2(SYNE2):c.20630C>T (p.Ser6877Phe) SNV Uncertain significance 180534 rs548596262 14:64692150-64692150 14:64225432-64225432 RST002 Restrictive Cardiomyopathy ACTA1 NM_001100.4(ACTA1):c.*66G>A SNV Uncertain significance 876669 1:229567180-229567180 1:229431433-229431433 RST002 Restrictive Cardiomyopathy ACTA1 NM_001100.4(ACTA1):c.1128C>T (p.Cys376=) SNV Uncertain significance 873830 1:229567252-229567252 1:229431505-229431505 RST002 Restrictive Cardiomyopathy ACTA1 NM_001100.4(ACTA1):c.480C>A (p.Gly160=) SNV Uncertain significance 876712 1:229568153-229568153 1:229432406-229432406 RST002 Restrictive Cardiomyopathy ACTA1 NM_001100.4(ACTA1):c.435C>T (p.Tyr145=) SNV Uncertain significance 874835 1:229568322-229568322 1:229432575-229432575 RST002 Restrictive Cardiomyopathy ACTA1 NM_001100.4(ACTA1):c.81C>T (p.Asp27=) SNV Uncertain significance 876767 1:229568782-229568782 1:229433035-229433035 RST002 Restrictive Cardiomyopathy TTN NM_001267550.2(TTN):c.39709+1G>T SNV Uncertain significance 691815 2:179515477-179515477 2:178650750-178650750 RST002 Restrictive Cardiomyopathy MYL3 NM_000258.3(MYL3):c.466G>C (p.Val156Leu) SNV Uncertain significance 848489 3:46900980-46900980 3:46859490-46859490 RST002 Restrictive Cardiomyopathy MYH6 NM_002471.3(MYH6):c.3934C>G (p.Gln1312Glu) SNV Uncertain significance 617632 rs1322506642 14:23858646-23858646 14:23389437-23389437 RST002 Restrictive Cardiomyopathy CALR3 NM_145046.5(CALR3):c.772_777delinsGCCAGG (p.Lys258_Pro259delinsAlaArg) indel Uncertain significance 691670 19:16593498-16593503 19:16482687-16482692 RST002 Restrictive Cardiomyopathy PRDM16 NM_022114.4(PRDM16):c.2372G>A (p.Gly791Asp) SNV Uncertain significance 691814 1:3329133-3329133 1:3412569-3412569 RST002 Restrictive Cardiomyopathy DMD NM_004006.2(DMD):c.8996C>T (p.Ala2999Val) SNV Uncertain significance 664831 X:31462686-31462686 X:31444569-31444569 RST002 Restrictive Cardiomyopathy TTN NM_001267550.2(TTN):c.68390C>T (p.Pro22797Leu) SNV Uncertain significance 691687 2:179442852-179442852 2:178578125-178578125 RST002 Restrictive Cardiomyopathy SLC25A4 NM_001151.4(SLC25A4):c.742G>A (p.Asp248Asn) SNV Uncertain significance 691710 4:186067970-186067970 4:185146816-185146816 RST002 Restrictive Cardiomyopathy MYPN NM_032578.4(MYPN):c.802C>T (p.Pro268Ser) SNV Uncertain significance 444869 rs201454261 10:69881997-69881997 10:68122240-68122240 RST002 Restrictive Cardiomyopathy PDLIM3 NM_014476.6(PDLIM3):c.365G>A (p.Arg122Gln) SNV Likely benign 691765 4:186435457-186435457 4:185514303-185514303 RST002 Restrictive Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.*66G>A SNV Likely benign 294893 rs3729998 1:201328272-201328272 1:201359144-201359144 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*1674C>T SNV Likely benign 315654 rs112660730 15:35080939-35080939 15:34788738-34788738 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*918delA deletion Likely benign 315672 rs34323254 15:35081695-35081695 15:34789494-34789494 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*868T>G SNV Likely benign 315674 rs80139141 15:35081745-35081745 15:34789544-34789544 RST002 Restrictive Cardiomyopathy TNNI3 NM_001256715.2(DNAAF3):c.1093= (p.Asn365=) SNV Likely benign 369296 rs890872 19:55671337-55671337 19:55159969-55159969 RST002 Restrictive Cardiomyopathy TNNI3 NM_000363.4(TNNI3):c.-148A>G SNV Likely benign 369294 rs73935313 19:55669105-55669105 19:55157737-55157737 RST002 Restrictive Cardiomyopathy DNAAF3 NM_001256715.2(DNAAF3):c.1405G>A (p.Val469Met) SNV Benign/Likely benign 369295 rs114601492 19:55670651-55670651 19:55159283-55159283 RST002 Restrictive Cardiomyopathy TNNI3 NM_001256715.2(DNAAF3):c.1405G>A (p.Val469Met) SNV Benign/Likely benign 369295 rs114601492 19:55670651-55670651 19:55159283-55159283 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.5(ACTC1):c.-57T>C SNV Benign/Likely benign 315716 rs113178069 15:35087741-35087741 15:34795540-34795540 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*388G>A SNV Benign/Likely benign 315694 rs1370154 15:35082225-35082225 15:34790024-34790024 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*269C>T SNV Benign/Likely benign 315697 rs74009720 15:35082344-35082344 15:34790143-34790143 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*1682A>G SNV Benign/Likely benign 315653 rs533021 15:35080931-35080931 15:34788730-34788730 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*1039G>A SNV Benign/Likely benign 315668 rs589759 15:35081574-35081574 15:34789373-34789373 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*472T>C SNV Benign/Likely benign 315691 rs1370155 15:35082141-35082141 15:34789940-34789940 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*1445C>G SNV Benign/Likely benign 315659 rs8037241 15:35081168-35081168 15:34788967-34788967 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*875G>C SNV Benign/Likely benign 315673 rs73387693 15:35081738-35081738 15:34789537-34789537 RST002 Restrictive Cardiomyopathy ACTA1 NM_001100.3(ACTA1):c.549G>A (p.Ala183=) SNV Benign/Likely benign 296056 rs200094415 1:229568084-229568084 1:229432337-229432337 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.4(ACTC1):c.*2090A>G SNV Benign/Likely benign 315647 rs604689 15:35080523-35080523 15:34788322-34788322 RST002 Restrictive Cardiomyopathy ACTA1 NM_001100.3(ACTA1):c.453C>A (p.Thr151=) SNV Benign/Likely benign 257445 rs76030344 1:229568304-229568304 1:229432557-229432557 RST002 Restrictive Cardiomyopathy DNAAF3 NM_001256715.2(DNAAF3):c.1239-8A>G SNV Benign/Likely benign 257684 rs28377509 19:55670825-55670825 19:55159457-55159457 RST002 Restrictive Cardiomyopathy TNNI3 NM_001256715.2(DNAAF3):c.1239-8A>G SNV Benign/Likely benign 257684 rs28377509 19:55670825-55670825 19:55159457-55159457 RST002 Restrictive Cardiomyopathy DNAAF3 NM_001256715.2(DNAAF3):c.1164-14C>T SNV Benign/Likely benign 257682 rs60176657 19:55670989-55670989 19:55159621-55159621 RST002 Restrictive Cardiomyopathy TNNI3 NM_001256715.2(DNAAF3):c.1164-14C>T SNV Benign/Likely benign 257682 rs60176657 19:55670989-55670989 19:55159621-55159621 RST002 Restrictive Cardiomyopathy DNAAF3 NM_001256715.2(DNAAF3):c.1056G>A (p.Pro352=) SNV Benign/Likely benign 257680 rs891187 19:55671374-55671374 19:55160006-55160006 RST002 Restrictive Cardiomyopathy TNNI3 NM_001256715.2(DNAAF3):c.1056G>A (p.Pro352=) SNV Benign/Likely benign 257680 rs891187 19:55671374-55671374 19:55160006-55160006 RST002 Restrictive Cardiomyopathy DNAAF3 NM_001256715.2(DNAAF3):c.1001T>C (p.Leu334Pro) SNV Benign/Likely benign 257679 rs890871 19:55672055-55672055 19:55160687-55160687 RST002 Restrictive Cardiomyopathy TNNI3 NM_001256715.2(DNAAF3):c.1001T>C (p.Leu334Pro) SNV Benign/Likely benign 257679 rs890871 19:55672055-55672055 19:55160687-55160687 RST002 Restrictive Cardiomyopathy DNAAF3 NM_001256715.2(DNAAF3):c.875A>G (p.Glu292Gly) SNV Benign/Likely benign 257676 rs2365725 19:55672470-55672470 19:55161102-55161102 RST002 Restrictive Cardiomyopathy TNNI3 NM_001256715.2(DNAAF3):c.875A>G (p.Glu292Gly) SNV Benign/Likely benign 257676 rs2365725 19:55672470-55672470 19:55161102-55161102 RST002 Restrictive Cardiomyopathy DNAAF3 NM_001256715.2(DNAAF3):c.790-14C>T SNV Benign/Likely benign 257695 rs7260371 19:55672569-55672569 19:55161201-55161201 RST002 Restrictive Cardiomyopathy TNNI3 NM_001256715.2(DNAAF3):c.790-14C>T SNV Benign/Likely benign 257695 rs7260371 19:55672569-55672569 19:55161201-55161201 RST002 Restrictive Cardiomyopathy DNAAF3 NM_001256715.2(DNAAF3):c.666T>C (p.Ala222=) SNV Benign/Likely benign 257694 rs7260320 19:55672784-55672784 19:55161416-55161416 RST002 Restrictive Cardiomyopathy TNNI3 NM_001256715.2(DNAAF3):c.666T>C (p.Ala222=) SNV Benign/Likely benign 257694 rs7260320 19:55672784-55672784 19:55161416-55161416 RST002 Restrictive Cardiomyopathy DNAAF3 NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser) SNV Benign/Likely benign 257691 rs58824375 19:55673145-55673145 19:55161777-55161777 RST002 Restrictive Cardiomyopathy TNNI3 NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser) SNV Benign/Likely benign 257691 rs58824375 19:55673145-55673145 19:55161777-55161777 RST002 Restrictive Cardiomyopathy DNAAF3 NM_001256715.2(DNAAF3):c.510A>G (p.Val170=) SNV Benign/Likely benign 257689 rs56726774 19:55673164-55673164 19:55161796-55161796 RST002 Restrictive Cardiomyopathy TNNI3 NM_001256715.2(DNAAF3):c.510A>G (p.Val170=) SNV Benign/Likely benign 257689 rs56726774 19:55673164-55673164 19:55161796-55161796 RST002 Restrictive Cardiomyopathy DNAAF3 NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=) SNV Benign/Likely benign 257688 rs3848618 19:55673654-55673654 19:55162286-55162286 RST002 Restrictive Cardiomyopathy TNNI3 NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=) SNV Benign/Likely benign 257688 rs3848618 19:55673654-55673654 19:55162286-55162286 RST002 Restrictive Cardiomyopathy AKAP9 NM_005751.4(AKAP9):c.8485G>A (p.Glu2829Lys) SNV Benign/Likely benign 263541 rs149946443 7:91712808-91712808 7:92083494-92083494 RST002 Restrictive Cardiomyopathy TRPM4 NM_017636.4(TRPM4):c.2283_2294del (p.759_762CGGR[1]) deletion Benign/Likely benign 415729 rs113100797 19:49699759-49699770 19:49196502-49196513 RST002 Restrictive Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.294+7G>A SNV Benign/Likely benign 36884 rs45490292 1:201334731-201334731 1:201365603-201365603 RST002 Restrictive Cardiomyopathy TNNI3 NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) SNV Benign/Likely benign 12421 rs77615401 19:55667607-55667607 19:55156239-55156239 RST002 Restrictive Cardiomyopathy TNNI3 NM_003283.6(TNNT1):c.-20A>G SNV Benign/Likely benign 31855 rs9636153 19:55660537-55660537 19:55149169-55149169 RST002 Restrictive Cardiomyopathy TNNT1 NM_003283.6(TNNT1):c.-20A>G SNV Benign/Likely benign 31855 rs9636153 19:55660537-55660537 19:55149169-55149169 RST002 Restrictive Cardiomyopathy TNNI3 NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly) SNV Benign/Likely benign 31865 rs112562759 19:55658387-55658387 19:55147019-55147019 RST002 Restrictive Cardiomyopathy TNNT1 NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly) SNV Benign/Likely benign 31865 rs112562759 19:55658387-55658387 19:55147019-55147019 RST002 Restrictive Cardiomyopathy TNNI3 NM_003283.6(TNNT1):c.33-8G>A SNV Benign/Likely benign 130603 rs76630067 19:55658397-55658397 19:55147029-55147029 RST002 Restrictive Cardiomyopathy TNNT1 NM_003283.6(TNNT1):c.33-8G>A SNV Benign/Likely benign 130603 rs76630067 19:55658397-55658397 19:55147029-55147029 RST002 Restrictive Cardiomyopathy DNAAF3 NM_000363.5(TNNI3):c.-35C>A SNV Benign/Likely benign 137687 rs3729707 19:55668992-55668992 19:55157624-55157624 RST002 Restrictive Cardiomyopathy TNNI3 NM_000363.5(TNNI3):c.-35C>A SNV Benign/Likely benign 137687 rs3729707 19:55668992-55668992 19:55157624-55157624 RST002 Restrictive Cardiomyopathy ACTA1 NM_001100.3(ACTA1):c.996C>A (p.Ile332=) SNV Benign/Likely benign 93555 rs74897770 1:229567384-229567384 1:229431637-229431637 RST002 Restrictive Cardiomyopathy DMD NM_004006.2(DMD):c.1513G>C (p.Val505Leu) SNV Benign/Likely benign 94471 rs140340626 X:32613963-32613963 X:32595846-32595846 RST002 Restrictive Cardiomyopathy ACTA1 NM_001100.4(ACTA1):c.809-13dup duplication Benign/Likely benign 93551 rs201427429 1:229567660-229567661 1:229431913-229431914 RST002 Restrictive Cardiomyopathy ACTC1 NM_005159.5(ACTC1):c.927T>C (p.Pro309=) SNV Benign/Likely benign 45194 rs2307493 15:35083378-35083378 15:34791177-34791177 RST002 Restrictive Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg) SNV Benign/Likely benign 43669 rs3730238 1:201330429-201330429 1:201361301-201361301 RST002 Restrictive Cardiomyopathy MYH6 NM_002471.4(MYH6):c.3883G>C (p.Glu1295Gln) SNV Benign/Likely benign 44492 rs34935550 14:23858697-23858697 14:23389488-23389488 RST002 Restrictive Cardiomyopathy DNAAF3 NM_000363.5(TNNI3):c.150+13G>A SNV Benign/Likely benign 43362 rs73617692 19:55667958-55667958 19:55156590-55156590 RST002 Restrictive Cardiomyopathy TNNI3 NM_000363.5(TNNI3):c.150+13G>A SNV Benign/Likely benign 43362 rs73617692 19:55667958-55667958 19:55156590-55156590 RST002 Restrictive Cardiomyopathy TNNI3 NM_000363.5(TNNI3):c.198G>A (p.Glu66=) SNV Benign/Likely benign 43364 rs3729710 19:55667653-55667653 19:55156285-55156285 RST002 Restrictive Cardiomyopathy DNAAF3 NM_000363.5(TNNI3):c.25-8T>A SNV Benign/Likely benign 43371 rs3729836 19:55668509-55668509 19:55157141-55157141 RST002 Restrictive Cardiomyopathy TNNI3 NM_000363.5(TNNI3):c.25-8T>A SNV Benign/Likely benign 43371 rs3729836 19:55668509-55668509 19:55157141-55157141 RST002 Restrictive Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.163+12G>A SNV Benign/Likely benign 43613 rs45580032 1:201337278-201337278 1:201368150-201368150 RST002 Restrictive Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.237G>A (p.Ser79=) SNV Benign/Likely benign 43617 rs3729845 1:201334795-201334795 1:201365667-201365667 RST002 Restrictive Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.348C>T (p.Ile116=) SNV Benign/Likely benign 43632 rs3729547 1:201334382-201334382 1:201365254-201365254 RST002 Restrictive Cardiomyopathy TNNT2 NM_001276345.2(TNNT2):c.53-11_53-7del short repeat Benign/Likely benign 43652 rs45533739 1:201341176-201341180 1:201372048-201372052 RST002 Restrictive Cardiomyopathy MYH7 NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) SNV Benign 43020 rs3729823 14:23886409-23886409 14:23417200-23417200 RST002 Restrictive Cardiomyopathy ACTA1 NM_001100.4(ACTA1):c.809-14G>C SNV Benign 93552 rs6673359 1:229567663-229567663 1:229431916-229431916 RST002 Restrictive Cardiomyopathy ACTA1 NM_001100.4(ACTA1):c.130-10G>C SNV Benign 93546 rs41271481 1:229568637-229568637 1:229432890-229432890 RST002 Restrictive Cardiomyopathy ACTA1 NM_001100.4(ACTA1):c.130-5T>C SNV Benign 93547 rs11803533 1:229568632-229568632 1:229432885-229432885 RST002 Restrictive Cardiomyopathy DSG2 NM_001943.5(DSG2):c.2647T>C (p.Ser883Pro) SNV Benign 36011 rs34417028 18:29125996-29125996 18:31546033-31546033 RST002 Restrictive Cardiomyopathy DSG2 NM_001943.5(DSG2):c.2708C>T (p.Thr903Ile) SNV Benign 36012 rs34065672 18:29126057-29126057 18:31546094-31546094 RST002 Restrictive Cardiomyopathy ACTA1 NM_001100.3(ACTA1):c.-65T>C SNV Benign 296060 rs605430 1:229569803-229569803 1:229434056-229434056 RST002 Restrictive Cardiomyopathy ACTA1 NM_001100.3(ACTA1):c.-66C>T SNV Benign 296062 rs605428 1:229569804-229569804 1:229434057-229434057 RST002 Restrictive Cardiomyopathy FAM161A NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) SNV Pathogenic 36 rs200691042 2:62066830-62066830 2:61839695-61839695 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs) deletion Pathogenic 37 rs397704718 2:62066783-62066784 2:61839648-61839649 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter) SNV Pathogenic 38 rs202193201 2:62066572-62066572 2:61839437-61839437 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.556C>T (p.Gln186Ter) SNV Pathogenic 104 rs267606691 2:29296572-29296572 2:29073706-29073706 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs) deletion Pathogenic 105 rs794728002 2:29294360-29294372 2:29071494-29071506 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val) SNV Pathogenic 1009 rs137853113 7:23180403-23180403 7:23140784-23140784 RTN008 Retinitis Pigmentosa BBS10 NM_024685.4(BBS10):c.271dup (p.Cys91fs) duplication Pathogenic 1328 rs549625604 12:76741493-76741494 12:76347713-76347714 RTN008 Retinitis Pigmentosa CEP290 NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) SNV Pathogenic 1333 rs137852832 12:88471040-88471040 12:88077263-88077263 RTN008 Retinitis Pigmentosa CEP290 NM_025114.4(CEP290):c.2991+1655A>G SNV Pathogenic 1337 rs281865192 12:88494960-88494960 12:88101183-88101183 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.806_810del (p.Ala269fs) deletion Pathogenic 2047 rs386834261 14:68196054-68196058 14:67729337-67729341 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.379G>T (p.Gly127Ter) SNV Pathogenic 2051 rs104894474 14:68192803-68192803 14:67726086-67726086 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.451C>G (p.His151Asp) SNV Pathogenic 2054 rs104894475 14:68193700-68193700 14:67726983-67726983 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) SNV Pathogenic 2055 rs28940315 14:68191923-68191923 14:67725206-67725206 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.658+1G>A SNV Pathogenic 2058 rs387906272 14:68193908-68193908 14:67727191-67727191 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.377C>T (p.Ala126Val) SNV Pathogenic 2061 rs202126574 14:68192801-68192801 14:67726084-67726084 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) SNV Pathogenic 2356 rs80338902 1:216420460-216420460 1:216247118-216247118 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) SNV Pathogenic 2357 rs111033364 1:215901574-215901574 1:215728232-215728232 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.949C>A (p.Arg317=) SNV Pathogenic 2358 rs111033272 1:216498841-216498841 1:216325499-216325499 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) SNV Pathogenic 2364 rs121909398 2:182423344-182423344 2:181558617-181558617 RTN008 Retinitis Pigmentosa PRPF3 NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met) SNV Pathogenic 3352 rs121434241 1:150316692-150316692 1:150344216-150344216 RTN008 Retinitis Pigmentosa CLRN1 NM_001195794.1(CLRN1):c.189C>A (p.Tyr63Ter) SNV Pathogenic 4397 rs111033267 3:150690307-150690307 3:150972520-150972520 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.635C>G (p.Ser212Ter) SNV Pathogenic 3546 rs267606874 3:100994538-100994538 3:101275694-101275694 RTN008 Retinitis Pigmentosa USH1C NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) duplication Pathogenic 5141 rs397515359 11:17552955-17552956 11:17531408-17531409 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1726C>T (p.Gln576Ter) SNV Pathogenic 5609 rs137853005 4:15995651-15995651 4:15994028-15994028 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) SNV Pathogenic 5732 rs62635654 1:197396745-197396745 1:197427615-197427615 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) SNV Pathogenic 5733 rs28939720 1:197396689-197396689 1:197427559-197427559 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter) SNV Pathogenic 5736 rs137853137 1:197396856-197396856 1:197427726-197427726 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2280_2284TAAAT[1] (p.Leu762fs) short repeat Pathogenic 5966 rs869320726 8:55538722-55538726 8:54626162-54626166 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser) SNV Pathogenic 7362 rs121909076 6:35471593-35471593 6:35503816-35503816 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu) SNV Pathogenic 7928 rs267607077 2:96953706-96953706 2:96287968-96287968 RTN008 Retinitis Pigmentosa GUCA1A NM_000409.4(GUCA1A):c.296A>G (p.Tyr99Cys) SNV Pathogenic 9150 rs104893967 6:42146112-42146112 6:42178374-42178374 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.16_18del (p.Ser6del) deletion Pathogenic 10544 rs137852284 X:46696550-46696552 X:46837115-46837117 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.358C>T (p.Arg120Ter) SNV Pathogenic 10551 rs104894927 X:46713166-46713166 X:46853731-46853731 RTN008 Retinitis Pigmentosa MYO7A NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter) SNV Pathogenic 11859 rs35689081 11:76853829-76853829 11:77142783-77142783 RTN008 Retinitis Pigmentosa BBS1 NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) SNV Pathogenic 12143 rs113624356 11:66293652-66293652 11:66526181-66526181 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.533A>G (p.Tyr178Cys) SNV Pathogenic 13025 rs104893776 3:129251096-129251096 3:129532253-129532253 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.403C>T (p.Arg135Trp) SNV Pathogenic 13028 rs104893775 3:129249760-129249760 3:129530917-129530917 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.44A>G (p.Asn15Ser) SNV Pathogenic 13042 rs104893786 3:129247620-129247620 3:129528777-129528777 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.511C>T (p.Pro171Ser) SNV Pathogenic 13050 rs104893794 3:129249868-129249868 3:129531025-129531025 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp) SNV Pathogenic 13100 rs28933990 15:89754025-89754025 15:89210794-89210794 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.677T>A (p.Met226Lys) SNV Pathogenic 13101 rs137853291 15:89754981-89754981 15:89211750-89211750 RTN008 Retinitis Pigmentosa PDE6G NM_002602.4(PDE6G):c.187+1G>T SNV Pathogenic 13102 17:79618674-79618674 17:81651644-81651644 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.892C>T (p.Gln298Ter) SNV Pathogenic 13103 rs121918579 4:647908-647908 4:654119-654119 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.1669C>T (p.His557Tyr) SNV Pathogenic 13106 rs121918581 4:655977-655977 4:662188-662188 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1749C>G (p.Tyr583Ter) SNV Pathogenic 13110 rs121918576 5:149265917-149265917 5:149886354-149886354 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) SNV Pathogenic 13115 rs61752871 1:68910541-68910541 1:68444858-68444858 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) SNV Pathogenic 13014 rs29001566 3:129252554-129252554 3:129533711-129533711 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.50C>T (p.Thr17Met) SNV Pathogenic 13018 rs104893769 3:129247626-129247626 3:129528783-129528783 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.316G>A (p.Gly106Arg) SNV Pathogenic 13038 rs104893773 3:129247892-129247892 3:129529049-129529049 RTN008 Retinitis Pigmentosa CA4 NM_000717.5(CA4):c.40C>T (p.Arg14Trp) SNV Pathogenic 17607 rs104894559 17:58227435-58227435 17:60150074-60150074 RTN008 Retinitis Pigmentosa MAK NM_001242957.3(MAK):c.497G>A (p.Arg166His) SNV Pathogenic 29784 rs387906648 6:10804119-10804119 6:10803886-10803886 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) SNV Pathogenic 29870 rs62653011 1:68903896-68903896 1:68438213-68438213 RTN008 Retinitis Pigmentosa ABCA4 NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys) SNV Pathogenic 30218 rs61751399 1:94506923-94506923 1:94041367-94041367 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu) SNV Pathogenic 30709 rs147394623 1:26764719-26764719 1:26438228-26438228 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.7595-2144A>G SNV Pathogenic 30722 rs786200928 1:216064540-216064540 1:215891198-215891198 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.545A>G (p.Gln182Arg) SNV Pathogenic 31195 rs387907137 8:96259924-96259924 8:95247696-95247696 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.64C>T (p.Arg22Ter) SNV Pathogenic 37041 rs387907268 17:74536287-74536287 17:76540205-76540205 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu) SNV Pathogenic 13164 rs61755806 6:42672284-42672284 6:42704546-42704546 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) SNV Pathogenic 13167 rs61755793 6:42689558-42689558 6:42721820-42721820 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) SNV Pathogenic 48471 rs111033273 1:216495263-216495263 1:216321921-216321921 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.8559-2A>G SNV Pathogenic 48604 rs397518039 1:216051224-216051224 1:215877882-215877882 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.920_923dup (p.His308fs) duplication Pathogenic 48615 rs397518043 1:216498866-216498867 1:216325524-216325525 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg) SNV Pathogenic 48634 rs111033263 1:215972408-215972408 1:215799066-215799066 RTN008 Retinitis Pigmentosa CEP290 NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) SNV Pathogenic 56733 rs386834152 12:88508265-88508265 12:88114488-88114488 RTN008 Retinitis Pigmentosa COL18A1 NM_030582.4(COL18A1):c.4054_4055del (p.Leu1352fs) deletion Pathogenic 65410 rs398122391 21:46930005-46930006 21:45510091-45510092 RTN008 Retinitis Pigmentosa ARL2BP NM_012106.4(ARL2BP):c.101-1G>C SNV Pathogenic 65473 rs879255568 16:57282448-57282448 16:57248536-57248536 RTN008 Retinitis Pigmentosa IQCB1 NM_001023570.4(IQCB1):c.1516_1517CA[1] (p.His506fs) short repeat Pathogenic 93469 rs398123538 3:121491452-121491453 3:121772605-121772606 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter) SNV Pathogenic 93621 rs398123575 6:64574212-64574212 6:63864319-63864319 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.952C>T (p.Gln318Ter) SNV Pathogenic 93705 rs372504780 16:57984367-57984367 16:57950463-57950463 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser) SNV Pathogenic 98695 rs61755805 6:42672285-42672285 6:42704547-42704547 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.736T>C (p.Trp246Arg) SNV Pathogenic 98706 rs61755817 6:42672195-42672195 6:42704457-42704457 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.248-2A>G SNV Pathogenic 98765 rs62638633 X:38180344-38180344 X:38321091-38321091 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.118G>A (p.Gly40Ser) SNV Pathogenic 98830 rs61751281 1:68912520-68912520 1:68446837-68446837 RTN008 Retinitis Pigmentosa ABCA4 NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) duplication Pathogenic 99292 rs281865377 1:94495002-94495003 1:94029446-94029447 RTN008 Retinitis Pigmentosa ABCA4 NM_000350.3(ABCA4):c.5460+1G>A SNV Pathogenic 99375 rs61753030 1:94480098-94480098 1:94014542-94014542 RTN008 Retinitis Pigmentosa ABCA4 NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser) SNV Pathogenic 99421 rs61750639 1:94473266-94473266 1:94007710-94007710 RTN008 Retinitis Pigmentosa ABCA4 NM_000350.3(ABCA4):c.768G>T (p.Val256=) SNV Pathogenic 99505 rs62645944 1:94564350-94564350 1:94098794-94098794 RTN008 Retinitis Pigmentosa CEP290 NM_025114.3(CEP290):c.5649dupA (p.Leu1884Thrfs) duplication Pathogenic 99860 rs281865188 12:88471058-88471059 12:88077281-88077282 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.613_619del (p.Ile205fs) deletion Pathogenic 99913 rs62645752 1:197298091-197298097 1:197328961-197328967 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.1467+1G>C SNV Pathogenic 143065 rs527236089 4:652807-652807 4:659018-659018 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.1604T>A (p.Ile535Asn) SNV Pathogenic 143067 rs527236088 4:654392-654392 4:660603-660603 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.193G>C (p.Asp65His) SNV Pathogenic 143085 rs527236062 19:48339592-48339592 19:47836335-47836335 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.180C>A (p.Tyr60Ter) SNV Pathogenic 143079 rs527236101 3:129247756-129247756 3:129528913-129528913 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.520G>A (p.Gly174Ser) SNV Pathogenic 143080 rs527236103 3:129249877-129249877 3:129531034-129531034 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.562G>A (p.Gly188Arg) SNV Pathogenic 143081 rs527236100 3:129251125-129251125 3:129532282-129532282 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.2T>C (p.Met1Thr) SNV Pathogenic 143095 rs527236092 17:74536225-74536225 17:76540143-76540143 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.191del (p.Gly64fs) deletion Pathogenic 143099 rs527236058 4:47953415-47953415 4:47951398-47951398 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) duplication Pathogenic 143105 rs527236065 6:65300802-65300803 6:64590909-64590910 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu) SNV Pathogenic 143108 rs527236068 6:64791763-64791763 6:64081870-64081870 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.7793G>A (p.Gly2598Asp) SNV Pathogenic 143111 rs527236064 6:64488004-64488004 6:63778111-63778111 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.7919G>A (p.Trp2640Ter) SNV Pathogenic 143112 rs527236066 6:64472506-64472506 6:63762613-63762613 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter) SNV Pathogenic 143115 rs527236067 6:64431122-64431122 6:63721226-63721226 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.763C>T (p.Arg255Trp) SNV Pathogenic 143127 rs372989281 11:61725666-61725666 11:61958194-61958194 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.2552_2553GA[1] (p.Glu852fs) short repeat Pathogenic 143130 rs527236116 9:32541966-32541969 9:32541968-32541971 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.2042G>A (p.Arg681His) SNV Pathogenic 143144 rs527236113 2:96958828-96958828 2:96293090-96293090 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.2047G>T (p.Val683Leu) SNV Pathogenic 143145 rs527236114 2:96958823-96958823 2:96293085-96293085 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.778del (p.Glu260fs) deletion Pathogenic 143163 rs527236099 14:68196025-68196025 14:67729308-67729308 RTN008 Retinitis Pigmentosa RP1L1 NM_178857.6(RP1L1):c.1972C>T (p.Arg658Ter) SNV Pathogenic 143164 rs527236107 8:10469636-10469636 8:10612126-10612126 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.10544A>G (p.Asp3515Gly) SNV Pathogenic 143169 rs527236119 1:215956121-215956121 1:215782779-215782779 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.9751T>C (p.Cys3251Arg) SNV Pathogenic 143185 rs527236118 1:215972456-215972456 1:215799114-215799114 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.4510dup (p.Arg1504fs) duplication Pathogenic 166504 rs727503731 1:216348710-216348711 1:216175368-216175369 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter) SNV Pathogenic 180084 rs727505337 1:215916627-215916627 1:215743285-215743285 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.2193+1G>A SNV Pathogenic 167440 rs727504075 4:658734-658734 4:664945-664945 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1905+521_1905+522del short repeat Pathogenic 183262 rs730882261 X:38145825-38145826 X:38286572-38286573 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.1459dup (p.Ser487fs) duplication Pathogenic 191358 rs863223342 1:197390414-197390415 1:197421284-197421285 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.2783G>A (p.Cys928Tyr) SNV Pathogenic 191357 rs863223341 1:197398685-197398685 1:197429555-197429555 RTN008 Retinitis Pigmentosa ABCA4 NM_000350.3(ABCA4):c.2927del (p.Leu976fs) deletion Pathogenic 191353 rs863223338 1:94510292-94510292 1:94044736-94044736 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.712A>T (p.Lys238Ter) SNV Pathogenic 191360 rs863223344 2:29296416-29296416 2:29073550-29073550 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.1060-1G>T SNV Pathogenic 191354 rs863223339 4:650033-650033 4:656244-656244 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.679T>G (p.Phe227Val) SNV Pathogenic 191355 rs863223340 8:55534740-55534740 8:54622180-54622180 RTN008 Retinitis Pigmentosa IFT140 NM_014714.4(IFT140):c.3827G>A (p.Gly1276Glu) SNV Pathogenic 191356 rs779007169 16:1570178-1570178 16:1520177-1520177 RTN008 Retinitis Pigmentosa PANK2 NM_153638.3(PANK2):c.1292T>C (p.Phe431Ser) SNV Pathogenic 191359 rs863223343 20:3893161-3893161 20:3912514-3912514 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs) deletion Pathogenic 195462 rs754012367 5:149245756-149245759 5:149866193-149866196 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) deletion Pathogenic 195936 rs761238771 6:65301404-65301410 6:64591511-64591517 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.541G>A (p.Glu181Lys) SNV Pathogenic 196282 rs775557680 3:129251104-129251104 3:129532261-129532261 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.490C>T (p.Arg164Ter) SNV Pathogenic 197186 rs794727631 6:66204814-66204814 6:65494921-65494921 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.11873_11874CA[1] (p.Gln3959fs) short repeat Pathogenic 198318 rs779791079 1:215901562-215901563 1:215728220-215728221 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.13316C>T (p.Thr4439Ile) SNV Pathogenic 198344 rs753330544 1:215847937-215847937 1:215674595-215674595 RTN008 Retinitis Pigmentosa KIAA0586 NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) deletion Pathogenic 204596 rs770566897 14:58910790-58910791 14:58444072-58444073 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.652C>T (p.Arg218Ter) SNV Pathogenic 242520 rs759781200 4:47942792-47942792 4:47940775-47940775 RTN008 Retinitis Pigmentosa AHI1 NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter) SNV Pathogenic 217525 rs372659908 6:135754219-135754219 6:135433081-135433081 RTN008 Retinitis Pigmentosa PDE6B NM_001145291.1(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) indel Pathogenic 224742 rs869312177 4:657561-657607 4:663772-663818 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.291C>A (p.Tyr97Ter) SNV Pathogenic 228390 rs876657718 4:619706-619706 4:625917-625917 RTN008 Retinitis Pigmentosa ABCA4 NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser) SNV Pathogenic 236096 rs201471607 1:94512499-94512499 1:94046943-94046943 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter) SNV Pathogenic 236448 rs878853350 6:65016917-65016917 6:64307024-64307024 RTN008 Retinitis Pigmentosa RCBTB1 NM_018191.4(RCBTB1):c.930G>T (p.Trp310Cys) SNV Pathogenic 253017 rs772592456 13:50123709-50123709 13:49549573-49549573 RTN008 Retinitis Pigmentosa CHM NM_000390.4(CHM):c.757C>T (p.Arg253Ter) SNV Pathogenic 279774 rs886041178 X:85213928-85213928 X:85958923-85958923 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter) SNV Pathogenic 285386 rs115352681 1:197390140-197390140 1:197421010-197421010 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.4825_4828CATT[1] (p.Ser1610fs) short repeat Pathogenic 289905 rs886044304 6:65300928-65300931 6:64591035-64591038 RTN008 Retinitis Pigmentosa SCAPER NM_020843.3(SCAPER):c.2973_2976del (p.Ile991Metfs) short repeat Pathogenic 417685 rs1555447569 15:76763655-76763658 15:76471314-76471317 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.491C>T (p.Ala164Val) SNV Pathogenic 417867 rs104893793 3:129249848-129249848 3:129531005-129531005 RTN008 Retinitis Pigmentosa SCAPER NM_020843.4(SCAPER):c.2023-2A>G SNV Pathogenic 424861 rs1555558169 15:77021080-77021080 15:76728739-76728739 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1572+3A>T SNV Pathogenic 427866 rs1555962831 X:38150209-38150209 X:38290956-38290956 RTN008 Retinitis Pigmentosa CFAP410 NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro) SNV Pathogenic 428573 rs140451304 21:45753071-45753071 21:44333188-44333188 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.3676G>T (p.Gly1226Ter) SNV Pathogenic 438080 rs757740068 1:197404669-197404669 1:197435539-197435539 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.13576C>T (p.Arg4526Ter) SNV Pathogenic 438014 rs1003869920 1:215847677-215847677 1:215674335-215674335 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.9571-2A>G SNV Pathogenic 438033 rs751111524 1:215987248-215987248 1:215813906-215813906 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.4222C>T (p.Gln1408Ter) SNV Pathogenic 438021 rs746551311 1:216369924-216369924 1:216196582-216196582 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.100C>T (p.Arg34Ter) SNV Pathogenic 438000 rs772808534 1:216595579-216595579 1:216422237-216422237 RTN008 Retinitis Pigmentosa ABCA4 NM_000350.3(ABCA4):c.1557C>A (p.Cys519Ter) SNV Pathogenic 438088 rs1553192726 1:94528871-94528871 1:94063315-94063315 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.3023-6_3030dup duplication Pathogenic 437941 rs754995805 3:100951827-100951828 3:101232983-101232984 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.509C>G (p.Pro170Arg) SNV Pathogenic 437997 rs1553781176 3:129249866-129249866 3:129531023-129531023 RTN008 Retinitis Pigmentosa CNGA1 NM_001142564.1(CNGA1):c.1885C>T (p.Arg629Ter) SNV Pathogenic 438165 rs567961453 4:47938833-47938833 4:47936816-47936816 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter) SNV Pathogenic 437983 rs753942596 5:149264112-149264112 5:149884549-149884549 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1630C>T (p.Arg544Trp) SNV Pathogenic 437982 rs144484128 5:149274844-149274844 5:149895281-149895281 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter) SNV Pathogenic 437984 rs146591309 5:149310680-149310680 5:149931117-149931117 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter) SNV Pathogenic 438048 rs367658438 2:29294126-29294126 2:29071260-29071260 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.5928-2A>G SNV Pathogenic 438200 rs181169439 6:65098735-65098735 6:64388842-64388842 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter) SNV Pathogenic 438197 rs930421180 6:65301715-65301715 6:64591822-64591822 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.3775C>T (p.Gln1259Ter) SNV Pathogenic 438196 rs1291867456 6:65303112-65303112 6:64593219-64593219 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter) SNV Pathogenic 438194 rs760798455 6:65622398-65622398 6:64912505-64912505 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2172_2185del (p.Ile725fs) deletion Pathogenic 437950 rs1554519546 8:55538610-55538623 8:54626050-54626063 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2056C>T (p.Gln686Ter) SNV Pathogenic 437948 rs1554519533 8:55538498-55538498 8:54625938-54625938 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.2569del (p.Arg857fs) deletion Pathogenic 438067 rs1554671407 9:32541954-32541954 9:32541956-32541956 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.2552_2553GA[2] (p.Glu852fs) short repeat Pathogenic 438066 rs527236116 9:32541966-32541967 9:32541968-32541969 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.3843del (p.Pro1282fs) deletion Pathogenic 437957 rs769601671 8:55540279-55540279 8:54627719-54627719 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.3139_3142dup (p.Ala1048fs) duplication Pathogenic 437975 rs756806434 16:57931400-57931401 16:57897496-57897497 RTN008 Retinitis Pigmentosa IFT140 NM_014714.4(IFT140):c.998G>A (p.Cys333Tyr) SNV Pathogenic 438181 rs773372123 16:1637210-1637210 16:1587209-1587209 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2185C>T (p.Arg729Ter) SNV Pathogenic 437971 rs1352458826 16:57950065-57950065 16:57916161-57916161 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1905+331_1905+332del short repeat Pathogenic 438142 rs1555961852 X:38146015-38146016 X:38286762-38286763 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1368_1369AG[2] (p.Ser458fs) short repeat Pathogenic 438138 rs1555964133 X:38156578-38156579 X:38297325-38297326 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.352C>T (p.Arg118Cys) SNV Pathogenic 437944 rs1556318633 X:46713160-46713160 X:46853725-46853725 RTN008 Retinitis Pigmentosa CLN3 NM_000086.2(CLN3):c.461-279_677+384del deletion Pathogenic 438235 rs1555468632 16:28497284-28498250 16:28485963-28486929 RTN008 Retinitis Pigmentosa CFAP410 NM_004928.3(CFAP410):c.33_34insAGCTGCACAGCGTGCA (p.Ala12fs) insertion Pathogenic 438159 rs748531024 21:45759044-45759045 21:44339161-44339162 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1905+414AG[2] short repeat Pathogenic 438144 rs1555961832 X:38145928-38145929 X:38286675-38286676 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.4957C>T (p.Arg1653Ter) SNV Pathogenic 488733 rs754768875 1:216260091-216260091 1:216086749-216086749 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.1003C>T (p.Arg335Ter) SNV Pathogenic 497934 rs777678022 2:62067136-62067136 2:61840001-61840001 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.891C>G (p.Ser297Arg) SNV Pathogenic 523376 rs142285818 3:129251570-129251570 3:129532727-129532727 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.612C>G (p.Tyr204Ter) SNV Pathogenic 523772 rs1554269081 6:42672319-42672319 6:42704581-42704581 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.992G>A (p.Trp331Ter) SNV Pathogenic 546035 rs1555794205 19:54631494-54631494 19:54128119-54128119 RTN008 Retinitis Pigmentosa SCAPER NM_020843.4(SCAPER):c.2806del (p.Thr935_Leu936insTer) deletion Pathogenic 548448 rs1567499068 15:76866531-76866531 15:76574190-76574190 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.94C>T (p.Arg32Ter) SNV Pathogenic 548707 rs199636364 4:47954625-47954625 4:47952608-47952608 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.1501del (p.Cys501fs) deletion Pathogenic 552429 rs767414973 2:62066638-62066638 2:61839503-61839503 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2259+1G>A SNV Pathogenic 558511 rs752736741 6:65707474-65707474 6:64997581-64997581 RTN008 Retinitis Pigmentosa USH1C NM_153676.4(USH1C):c.1211-1175del deletion Pathogenic 555064 rs1207247951 11:17539012-17539012 11:17517465-17517465 RTN008 Retinitis Pigmentosa VSX2 NM_182894.3(VSX2):c.609G>A (p.Trp203Ter) SNV Pathogenic 560530 rs1566888340 14:74726334-74726334 14:74259631-74259631 RTN008 Retinitis Pigmentosa TTLL5 NM_015072.5(TTLL5):c.1487+1G>A SNV Pathogenic 560512 rs1566585766 14:76211925-76211925 14:75745582-75745582 RTN008 Retinitis Pigmentosa SLC24A1 NM_004727.3(SLC24A1):c.95T>A (p.Leu32Ter) SNV Pathogenic 560509 rs1566945534 15:65916513-65916513 15:65624175-65624175 RTN008 Retinitis Pigmentosa SLC24A1 NM_004727.3(SLC24A1):c.754_755del (p.Met252fs) deletion Pathogenic 560508 rs777989874 15:65917172-65917173 15:65624834-65624835 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.205C>T (p.Arg69Cys) SNV Pathogenic 560444 rs771551785 19:48339604-48339604 19:47836347-47836347 RTN008 Retinitis Pigmentosa CLN3 NG_008654.2:g.(9642_9761)_(10726_10812)del deletion Pathogenic 565293 16:28497812-28498982 16:28486491-28487661 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.578_588del (p.Ser193fs) deletion Pathogenic 586984 rs1569257917 X:38176600-38176610 X:38317347-38317357 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter) SNV Pathogenic 619215 rs1471994744 6:66063502-66063502 6:65353609-65353609 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.2395C>T (p.Arg799Ter) SNV Pathogenic 620164 rs970990957 4:661687-661687 4:667898-667898 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.1625C>G (p.Ser542Ter) SNV Pathogenic 620129 rs779334655 8:55538067-55538067 8:54625507-54625507 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.53G>A (p.Gly18Asp) SNV Pathogenic 625297 rs200946638 3:129247629-129247629 3:129528786-129528786 RTN008 Retinitis Pigmentosa BBIP1 NM_001195307.1(BBIP1):c.38-1015C>T SNV Pathogenic 626905 10:112661299-112661299 10:110901541-110901541 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.79del (p.Thr27fs) deletion Pathogenic 635160 rs1567124404 15:89761858-89761858 15:89218627-89218627 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.8254G>A (p.Gly2752Arg) SNV Pathogenic 636127 1:216052410-216052410 1:215879068-215879068 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.5473G>T (p.Glu1825Ter) SNV Pathogenic 636123 1:216251530-216251530 1:216078188-216078188 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.810C>A (p.Ser270Arg) SNV Pathogenic 636084 3:129251489-129251489 3:129532646-129532646 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.1033G>T (p.Val345Leu) SNV Pathogenic 636081 3:129252547-129252547 3:129533704-129533704 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1287G>A (p.Trp429Ter) SNV Pathogenic 636052 5:149278046-149278046 5:149898483-149898483 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1054C>T (p.Gln352Ter) SNV Pathogenic 636051 5:149286886-149286886 5:149907323-149907323 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.385G>A (p.Glu129Lys) SNV Pathogenic 636062 4:619800-619800 4:626011-626011 RTN008 Retinitis Pigmentosa MAK NM_001242957.3(MAK):c.814C>T (p.Arg272Ter) SNV Pathogenic 636040 6:10802142-10802142 6:10801909-10801909 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.6591_6594del (p.Lys2198fs) deletion Pathogenic 636028 6:64776362-64776365 6:64066469-64066472 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1211dup (p.Asn404fs) duplication Pathogenic 636023 6:66094366-66094367 6:65384473-65384474 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.232del (p.Cys78fs) deletion Pathogenic 636025 6:66205072-66205072 6:65495179-65495179 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2585C>G (p.Ser862Ter) SNV Pathogenic 636091 8:55539027-55539027 8:54626467-54626467 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2690_2695del (p.Ser897_Lys899delinsTer) deletion Pathogenic 636092 8:55539132-55539137 8:54626572-54626577 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.481del (p.Thr161fs) deletion Pathogenic 636047 15:72104426-72104426 15:71812086-71812086 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.2426_2427del (p.Arg808_Ser809insTer) deletion Pathogenic 636109 X:38128900-38128901 X:38269647-38269648 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.2405_2406del (p.Pro802fs) deletion Pathogenic 636108 X:38128921-38128922 X:38269668-38269669 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1234C>T (p.Arg412Ter) SNV Pathogenic 636102 X:38158220-38158220 X:38298967-38298967 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.9056-2A>G SNV Pathogenic 636128 1:216017840-216017840 1:215844498-215844498 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.997del (p.Glu333fs) deletion Pathogenic 636072 19:54631498-54631498 19:54128123-54128123 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.788-2A>T SNV Pathogenic 636096 8:55537228-55537228 8:54624668-54624668 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2166+1G>A SNV Pathogenic 636011 16:57951171-57951171 16:57917267-57917267 RTN008 Retinitis Pigmentosa RPGR NM_000328.2(RPGR):c.*644del deletion Pathogenic 636111 X:38128235-38128235 X:38268982-38268982 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.28+1G>C SNV Pathogenic 636110 X:38186592-38186592 X:38327339-38327339 RTN008 Retinitis Pigmentosa MERTK NM_006343.2:c.(?_-1)_(1144+1_1145-1)del deletion Pathogenic 636043 RTN008 Retinitis Pigmentosa MKS1 NM_006343.2:c.(?_-1)_(1144+1_1145-1)del deletion Pathogenic 636043 RTN008 Retinitis Pigmentosa BBS2 NM_031885.4(BBS2):c.1290dup (p.His431fs) duplication Pathogenic 636152 16:56534872-56534873 16:56500960-56500961 RTN008 Retinitis Pigmentosa EYS NM_001142800.1(EYS):c.(6078+1_6079-1)_(6191+1_6192-1)dup duplication Pathogenic 636135 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.3(PRPF31):c.(238+1_239-1)_(420+1_421-1)dup duplication Pathogenic 636138 RTN008 Retinitis Pigmentosa USH2A NM_206933.2:c.(11711+1_11712-1)_(*1_?)del deletion Pathogenic 636141 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.6079_6191del (p.Met2027Ilefs) deletion Pathogenic 636168 6:65016863-65016975 6:64306970-64307082 RTN008 Retinitis Pigmentosa CDH23 NM_022124.6(CDH23):c.5710_5712+3del deletion Pathogenic 636159 10:73544855-73544860 10:71785098-71785103 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.883C>T (p.Arg295Ter) SNV Pathogenic 655601 14:68200497-68200497 14:67733780-67733780 RTN008 Retinitis Pigmentosa LARGE1 NM_004737.6(LARGE1):c.2089G>T (p.Val697Leu) SNV Pathogenic 684425 22:33670595-33670595 22:33274609-33274609 RTN008 Retinitis Pigmentosa ATP6 NC_012920.1:m.9032T>C SNV Pathogenic 693061 MT:9032-9032 MT:9032-9032 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.2021+2T>G SNV Pathogenic 802044 4:657661-657661 4:663872-663872 RTN008 Retinitis Pigmentosa PDE6B NM_001350154.2(PDE6B):c.1601+4T>A SNV Pathogenic 802045 4:661734-661734 4:667945-667945 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.2064del (p.Lys689fs) deletion Pathogenic 802164 5:149263063-149263063 5:149883500-149883500 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1674C>G (p.Tyr558Ter) SNV Pathogenic 802165 5:149274800-149274800 5:149895237-149895237 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.5450G>A (p.Trp1817Ter) SNV Pathogenic 802233 6:65300310-65300310 6:64590417-64590417 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.1234dup (p.Met412fs) duplication Pathogenic 802404 8:55537673-55537674 8:54625113-54625114 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.1265dup (p.Ala423fs) duplication Pathogenic 802405 8:55537706-55537707 8:54625146-54625147 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2778T>A (p.Tyr926Ter) SNV Pathogenic 802406 8:55539220-55539220 8:54626660-54626660 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.89_92del (p.Pro30fs) deletion Pathogenic 804152 19:54621744-54621747 19:54118364-54118367 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.165G>A (p.Trp55Ter) SNV Pathogenic 804153 19:54621823-54621823 19:54118443-54118443 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.322+1G>A SNV Pathogenic 804154 19:54625323-54625323 19:54121944-54121944 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.335del (p.Lys112fs) deletion Pathogenic 804157 19:54625887-54625887 19:54122508-54122508 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1122-2A>T SNV Pathogenic 803261 16:57974227-57974227 16:57940323-57940323 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.856-1G>A SNV Pathogenic 804159 19:54629902-54629902 19:54126527-54126527 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.310G>T (p.Glu104Ter) SNV Pathogenic 803973 X:38180280-38180280 X:38321027-38321027 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1905+617del deletion Pathogenic 803966 X:38145730-38145730 X:38286477-38286477 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1905+280G>T SNV Pathogenic 803967 X:38146067-38146067 X:38286814-38286814 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1905+118G>T SNV Pathogenic 803968 X:38146229-38146229 X:38286976-38286976 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.957del (p.Phe319fs) deletion Pathogenic 803969 X:38160602-38160602 X:38301349-38301349 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.749G>A (p.Cys250Tyr) SNV Pathogenic 803970 X:38169897-38169897 X:38310644-38310644 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.389_390del (p.Phe130fs) deletion Pathogenic 803971 X:38178161-38178162 X:38318908-38318909 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.2498G>A (p.Gly833Asp) SNV Pathogenic 812300 1:197396953-197396953 1:197427823-197427823 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.424G>T (p.Gly142Ter) SNV Pathogenic 812295 1:197297905-197297905 1:197328775-197328775 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.377del (p.Ser126fs) deletion Pathogenic 812463 1:216595302-216595302 1:216421960-216421960 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.722A>T (p.His241Leu) SNV Pathogenic 812407 1:68905247-68905247 1:68439564-68439564 RTN008 Retinitis Pigmentosa ABCA4 NM_000350.3(ABCA4):c.5333_5336del (p.Met1778fs) deletion Pathogenic 812199 1:94480223-94480226 1:94014667-94014670 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.448_449AT[1] (p.Ile150fs) short repeat Pathogenic 812265 2:182468594-182468595 2:181603867-181603868 RTN008 Retinitis Pigmentosa AGBL5 NM_021831.6(AGBL5):c.1787_1788del (p.His596fs) deletion Pathogenic 812217 2:27281383-27281384 2:27058515-27058516 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3289C>T (p.Gln1097Ter) SNV Pathogenic 812237 2:29293839-29293839 2:29070973-29070973 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2950C>T (p.Arg984Ter) SNV Pathogenic 812238 2:29294178-29294178 2:29071312-29071312 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.772_773AG[2] (p.Glu259fs) short repeat Pathogenic 812239 2:29296351-29296352 2:29073485-29073486 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.1321dup (p.His441fs) duplication Pathogenic 812322 2:62066817-62066818 2:61839682-61839683 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.548_638dup (p.Ile214fs) duplication Pathogenic 812396 3:129251109-129251110 3:129532266-129532267 RTN008 Retinitis Pigmentosa P3H2 NM_018192.4(P3H2):c.1213C>T (p.Arg405Ter) SNV Pathogenic 812364 3:189702355-189702355 3:189984566-189984566 RTN008 Retinitis Pigmentosa GNAT1 NM_144499.3(GNAT1):c.8del (p.Ala3fs) deletion Pathogenic 812324 3:50229166-50229166 3:50191733-50191733 RTN008 Retinitis Pigmentosa GNAT1 NM_144499.3(GNAT1):c.460G>T (p.Asp154Tyr) SNV Pathogenic 812325 3:50231196-50231196 3:50193763-50193763 RTN008 Retinitis Pigmentosa CNGA1 NM_001142564.1(CNGA1):c.524del (p.Lys175fs) deletion Pathogenic 812276 4:47945412-47945412 4:47943395-47943395 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.428C>A (p.Ala143Asp) SNV Pathogenic 812370 4:619843-619843 4:626054-626054 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.1417del (p.Leu473fs) deletion Pathogenic 812371 4:652755-652755 4:658966-658966 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.2081_2085del (p.Glu694fs) deletion Pathogenic 812367 5:149263042-149263046 5:149883479-149883483 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1960C>T (p.Gln654Ter) SNV Pathogenic 812368 5:149264109-149264109 5:149884546-149884546 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.409delinsCT (p.Asp137fs) indel Pathogenic 812369 5:149323828-149323828 5:149944265-149944265 RTN008 Retinitis Pigmentosa MAK NM_001242957.3(MAK):c.393delinsACCTT (p.Leu132fs) indel Pathogenic 812347 6:10809141-10809141 6:10808908-10808908 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.1301G>A (p.Arg434Lys) SNV Pathogenic 812439 6:35471358-35471358 6:35503581-35503581 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.1047T>G (p.Asn349Lys) SNV Pathogenic 812440 6:35473583-35473583 6:35505806-35505806 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.9223_9232del (p.Asn3075fs) deletion Pathogenic 812311 6:64430695-64430704 6:63720799-63720808 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.8255_8260del (p.Leu2752_Asn2754delinsTyr) deletion Pathogenic 812312 6:64431667-64431672 6:63721771-63721776 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.8167C>T (p.Gln2723Ter) SNV Pathogenic 812313 6:64436478-64436478 6:63726585-63726585 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.8105del (p.Asn2702fs) deletion Pathogenic 812314 6:64436540-64436540 6:63726647-63726647 RTN008 Retinitis Pigmentosa EYS NC_000006.12:g.64349976_64426764del deletion Pathogenic 812315 6:65059867-65136655 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.3715G>T (p.Glu1239Ter) SNV Pathogenic 812317 6:65303172-65303172 6:64593279-64593279 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1961dup (p.Asn654fs) duplication Pathogenic 812318 6:66005817-66005818 6:65295924-65295925 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1558_1560AAT[1] (p.Asn521del) short repeat Pathogenic 812319 6:66053967-66053969 6:65344074-65344076 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.403_423delinsCTTTT (p.Thr135fs) indel Pathogenic 812320 6:66204881-66204901 6:65494988-65495008 RTN008 Retinitis Pigmentosa ADAM9 NM_003816.3(ADAM9):c.1087T>A (p.Cys363Ser) SNV Pathogenic 812213 8:38884286-38884286 8:39026767-39026767 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.688G>T (p.Gly230Ter) SNV Pathogenic 812399 8:55534749-55534749 8:54622189-54622189 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2167G>T (p.Gly723Ter) SNV Pathogenic 812400 8:55538609-55538609 8:54626049-54626049 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2180_2181delinsAA (p.Cys727Ter) indel Pathogenic 812401 8:55538622-55538623 8:54626062-54626063 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.2524dup (p.Thr842fs) duplication Pathogenic 812433 9:32541998-32541999 9:32542000-32542001 RTN008 Retinitis Pigmentosa CDHR1 NM_033100.4(CDHR1):c.1A>T (p.Met1Leu) SNV Pathogenic 812258 10:85954517-85954517 10:84194761-84194761 RTN008 Retinitis Pigmentosa CDHR1 NM_001171971.3(CDHR1):c.2087_2090del (p.Thr696fs) deletion Pathogenic 812263 10:85978879-85978882 10:84219123-84219126 RTN008 Retinitis Pigmentosa RPGRIP1 NM_020366.3(RPGRIP1):c.2935C>T (p.Gln979Ter) SNV Pathogenic 812426 14:21796622-21796622 14:21328463-21328463 RTN008 Retinitis Pigmentosa RPGRIP1 NM_020366.3(RPGRIP1):c.2974del (p.Arg992fs) deletion Pathogenic 812427 14:21796659-21796659 14:21328500-21328500 RTN008 Retinitis Pigmentosa RPGRIP1 NC_000014.9:g.21348213_21348216AGAA[1] short repeat Pathogenic 812428 14:21816370-21816373 14:21348211-21348214 RTN008 Retinitis Pigmentosa NRL NM_001354768.3(NRL):c.444_445insGCTGCGGG (p.Leu149fs) insertion Pathogenic 812356 14:24550714-24550715 14:24081505-24081506 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.759del (p.Phe254fs) deletion Pathogenic 812389 14:68196004-68196004 14:67729287-67729287 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.821T>C (p.Leu274Pro) SNV Pathogenic 812390 14:68196070-68196070 14:67729353-67729353 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.1038G>C (p.Gln346His) SNV Pathogenic 812355 15:72106396-72106396 15:71814055-71814055 RTN008 Retinitis Pigmentosa IDH3A NM_005530.3(IDH3A):c.911C>A (p.Pro304His) SNV Pathogenic 812331 15:78458538-78458538 15:78166196-78166196 RTN008 Retinitis Pigmentosa IDH3A NM_005530.3(IDH3A):c.938T>C (p.Met313Thr) SNV Pathogenic 812332 15:78458565-78458565 15:78166223-78166223 RTN008 Retinitis Pigmentosa IFT140 NM_014714.4(IFT140):c.1445G>A (p.Cys482Tyr) SNV Pathogenic 812334 16:1630839-1630839 16:1580838-1580838 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.3391_3393AAG[1] (p.Lys1132del) short repeat Pathogenic 812382 17:1577090-1577092 17:1673796-1673798 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.99del (p.Ile34fs) deletion Pathogenic 812220 17:6337416-6337416 17:6434096-6434096 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.689del (p.Lys230fs) deletion Pathogenic 812378 19:54627288-54627288 19:54123909-54123909 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.1108G>T (p.Glu370Ter) SNV Pathogenic 812380 19:54631714-54631714 19:54128339-54128339 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.2822_2824del (p.Phe941del) deletion Pathogenic 812381 20:62664340-62664342 20:64032987-64032989 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1905+1059_1905+1060del deletion Pathogenic 812409 X:38145287-38145288 X:38286034-38286035 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1905+892del deletion Pathogenic 812410 X:38145455-38145455 X:38286202-38286202 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1905+885_1905+886del deletion Pathogenic 812411 X:38145461-38145462 X:38286208-38286209 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1905+867_1905+868dup duplication Pathogenic 812412 X:38145478-38145479 X:38286225-38286226 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1905+367G>T SNV Pathogenic 812413 X:38145980-38145980 X:38286727-38286727 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1905+316_1905+319del deletion Pathogenic 812414 X:38146028-38146031 X:38286775-38286778 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1905+268C>T SNV Pathogenic 812415 X:38146079-38146079 X:38286826-38286826 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1334C>G (p.Ser445Ter) SNV Pathogenic 812417 X:38156617-38156617 X:38297364-38297364 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1237_1238AG[3] (p.Arg415fs) short repeat Pathogenic 812418 X:38158210-38158211 X:38298957-38298958 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.897dup (p.Ile300fs) duplication Pathogenic 812419 X:38163924-38163925 X:38304671-38304672 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.592G>A (p.Gly198Arg) SNV Pathogenic 812420 X:38176596-38176596 X:38317343-38317343 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.364del (p.Cys122fs) deletion Pathogenic 812405 X:46713171-46713171 X:46853736-46853736 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.530_531del (p.Phe177fs) deletion Pathogenic 812406 X:46713337-46713338 X:46853902-46853903 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.238+1G>A SNV Pathogenic 812266 2:182521495-182521495 2:181656768-181656768 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.1921-9C>G SNV Pathogenic 812372 4:657550-657550 4:663761-663761 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.2506+1G>A SNV Pathogenic 812366 5:149242681-149242681 5:149863118-149863118 RTN008 Retinitis Pigmentosa TTLL5 NM_015072.5(TTLL5):c.2136+1G>A SNV Pathogenic 812436 14:76238198-76238198 14:75771855-75771855 RTN008 Retinitis Pigmentosa ARL2BP NM_012106.4(ARL2BP):c.38+2T>G SNV Pathogenic 812223 16:57279319-57279319 16:57245407-57245407 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.697+1G>A SNV Pathogenic 812379 19:54627298-54627298 19:54123919-54123919 RTN008 Retinitis Pigmentosa CFAP410 NM_004928.3(CFAP410):c.643-1G>C SNV Pathogenic 812234 21:45750210-45750210 21:44330327-44330327 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1572+1G>A SNV Pathogenic 812416 X:38150211-38150211 X:38290958-38290958 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.102+1G>T SNV Pathogenic 812403 X:46696638-46696638 X:46837203-46837203 RTN008 Retinitis Pigmentosa EYS NC_000006.11:g.64666416_66194230del deletion Pathogenic 812467 6:64666416-66194230 RTN008 Retinitis Pigmentosa EYS NC_000006.11:g.65376653_65743428del deletion Pathogenic 812468 6:65376653-65743428 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.1084C>T (p.Gln362Ter) SNV Pathogenic 812758 1:68903914-68903914 1:68438231-68438231 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2320G>A (p.Glu774Lys) SNV Pathogenic 812285 16:57946883-57946883 16:57912979-57912979 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2284C>T (p.Arg762Cys) SNV Pathogenic 812286 16:57949173-57949173 16:57915269-57915269 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.259G>T (p.Glu87Ter) SNV Pathogenic 812422 X:38180331-38180331 X:38321078-38321078 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.25_28del (p.Lys10fs) deletion Pathogenic 812402 X:46696558-46696561 X:46837123-46837126 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs) deletion Pathogenic/Likely pathogenic 289906 rs770748359 6:64430632-64430641 6:63720736-63720745 RTN008 Retinitis Pigmentosa ABCA4 NM_000350.3(ABCA4):c.6729+5_6729+19del deletion Pathogenic/Likely pathogenic 283573 rs749526785 1:94463398-94463412 1:93997842-93997856 RTN008 Retinitis Pigmentosa RCBTB1 NM_018191.4(RCBTB1):c.919G>A (p.Val307Met) SNV Pathogenic/Likely pathogenic 253016 rs368217569 13:50123720-50123720 13:49549584-49549584 RTN008 Retinitis Pigmentosa RCBTB1 NM_018191.4(RCBTB1):c.1164G>T (p.Leu388Phe) SNV Pathogenic/Likely pathogenic 253020 rs879255547 13:50118881-50118881 13:49544745-49544745 RTN008 Retinitis Pigmentosa RCBTB1 NM_018191.4(RCBTB1):c.973C>T (p.His325Tyr) SNV Pathogenic/Likely pathogenic 253018 rs200826424 13:50123666-50123666 13:49549530-49549530 RTN008 Retinitis Pigmentosa AHI1 NM_001134831.2(AHI1):c.2988del (p.Val997fs) deletion Pathogenic/Likely pathogenic 280290 rs755246809 6:135726089-135726089 6:135404951-135404951 RTN008 Retinitis Pigmentosa KIAA0586 NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) deletion Pathogenic/Likely pathogenic 204593 rs534542684 14:58899157-58899157 14:58432439-58432439 RTN008 Retinitis Pigmentosa BBS2 NM_031885.4(BBS2):c.661del (p.Leu221fs) deletion Pathogenic/Likely pathogenic 208564 rs770258677 16:56540088-56540088 16:56506176-56506176 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) SNV Pathogenic/Likely pathogenic 197932 rs148660051 1:215963510-215963510 1:215790168-215790168 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter) SNV Pathogenic/Likely pathogenic 191050 rs767745816 14:88883104-88883104 14:88416760-88416760 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.119-2A>C SNV Pathogenic/Likely pathogenic 191059 rs2723341 15:72103821-72103821 15:71811481-71811481 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter) SNV Pathogenic/Likely pathogenic 191180 rs786205564 3:100962901-100962901 3:101244057-101244057 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.2T>C (p.Met1Thr) SNV Pathogenic/Likely pathogenic 191246 rs797044561 X:46696537-46696537 X:46837102-46837102 RTN008 Retinitis Pigmentosa AHI1 NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) SNV Pathogenic/Likely pathogenic 156382 rs587783013 6:135754257-135754257 6:135433119-135433119 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser) SNV Pathogenic/Likely pathogenic 143070 rs527236098 6:42689574-42689574 6:42721836-42721836 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.11156G>A (p.Arg3719His) SNV Pathogenic/Likely pathogenic 143170 rs527236139 1:215933077-215933077 1:215759735-215759735 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter) SNV Pathogenic/Likely pathogenic 143151 rs199867882 3:100949961-100949961 3:101231117-101231117 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) SNV Pathogenic/Likely pathogenic 143134 rs201493928 8:55537628-55537628 8:54625068-54625068 RTN008 Retinitis Pigmentosa ABCA4 NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn) SNV Pathogenic/Likely pathogenic 99174 rs61749451 1:94512478-94512478 1:94046922-94046922 RTN008 Retinitis Pigmentosa ABCA4 NM_000350.3(ABCA4):c.5461-10T>C SNV Pathogenic/Likely pathogenic 92870 rs1800728 1:94476951-94476951 1:94011395-94011395 RTN008 Retinitis Pigmentosa CLN3 NM_001042432.1(CLN3):c.379del (p.Arg127fs) deletion Pathogenic/Likely pathogenic 56267 rs386833717 16:28498858-28498858 16:28487537-28487537 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) SNV Pathogenic/Likely pathogenic 48611 rs397518041 1:216019240-216019240 1:215845898-215845898 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1905+500_1905+501del short repeat Pathogenic/Likely pathogenic 91389 rs398122960 X:38145846-38145847 X:38286593-38286594 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.959C>T (p.Ser320Phe) SNV Pathogenic/Likely pathogenic 16932 rs62625014 4:47939552-47939552 4:47937535-47937535 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.529C>T (p.Arg177Trp) SNV Pathogenic/Likely pathogenic 31194 rs387907136 8:96259940-96259940 8:95247712-95247712 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.568G>T (p.Asp190Tyr) SNV Pathogenic/Likely pathogenic 13040 rs104893779 3:129251131-129251131 3:129532288-129532288 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.266G>A (p.Gly89Asp) SNV Pathogenic/Likely pathogenic 13021 rs104893772 3:129247842-129247842 3:129528999-129528999 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.1040C>G (p.Pro347Arg) SNV Pathogenic/Likely pathogenic 13032 rs29001566 3:129252554-129252554 3:129533711-129533711 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.800C>T (p.Pro267Leu) SNV Pathogenic/Likely pathogenic 13034 rs104893781 3:129251479-129251479 3:129532636-129532636 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.158C>G (p.Pro53Arg) SNV Pathogenic/Likely pathogenic 13037 rs28933395 3:129247734-129247734 3:129528891-129528891 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.823G>A (p.Gly275Ser) SNV Pathogenic/Likely pathogenic 9899 rs62642057 X:38163999-38163999 X:38304746-38304746 RTN008 Retinitis Pigmentosa ABCA4 NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) SNV Pathogenic/Likely pathogenic 7894 rs61751374 1:94508969-94508969 1:94043413-94043413 RTN008 Retinitis Pigmentosa PHYH NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) SNV Pathogenic/Likely pathogenic 7580 rs104894178 10:13325695-13325695 10:13283695-13283695 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) SNV Pathogenic/Likely pathogenic 5532 rs28937873 15:72105913-72105913 15:71813573-71813573 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg) SNV Pathogenic/Likely pathogenic 5533 rs121912631 15:72103870-72103870 15:71811530-71811530 RTN008 Retinitis Pigmentosa BBS2 NM_031885.4(BBS2):c.72C>G (p.Tyr24Ter) SNV Pathogenic/Likely pathogenic 4570 rs121908175 16:56553703-56553703 16:56519791-56519791 RTN008 Retinitis Pigmentosa BBS2 NM_031885.4(BBS2):c.311A>C (p.Asp104Ala) SNV Pathogenic/Likely pathogenic 4577 rs121908179 16:56548399-56548399 16:56514487-56514487 RTN008 Retinitis Pigmentosa BBS2 NM_031885.4(BBS2):c.1895G>C (p.Arg632Pro) SNV Pathogenic/Likely pathogenic 4578 rs138043021 16:56530894-56530894 16:56496982-56496982 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.14020A>G (p.Arg4674Gly) SNV Pathogenic/Likely pathogenic 2362 rs80338904 1:215844427-215844427 1:215671085-215671085 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.2299del (p.Glu767fs) deletion Pathogenic/Likely pathogenic 2351 rs80338903 1:216420437-216420437 1:216247095-216247095 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1905+1199_1905+1200del short repeat Pathogenic/Likely pathogenic 803964 X:38145147-38145148 X:38285894-38285895 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.573C>A (p.Cys191Ter) SNV Pathogenic/Likely pathogenic 804158 19:54627173-54627173 19:54123794-54123794 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1958-1G>A SNV Pathogenic/Likely pathogenic 803260 16:57951381-57951381 16:57917477-57917477 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys) SNV Pathogenic/Likely pathogenic 636112 2:96958829-96958829 2:96293091-96293091 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter) SNV Pathogenic/Likely pathogenic 632492 rs779983752 6:64436534-64436534 6:63726641-63726641 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1905+479del deletion Pathogenic/Likely pathogenic 560500 rs1569237206 X:38145868-38145868 X:38286615-38286615 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.194_202del (p.Asn65_Cys67del) deletion Pathogenic/Likely pathogenic 551852 rs1555454566 15:72103893-72103901 15:71811553-71811561 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs) deletion Pathogenic/Likely pathogenic 550019 rs528919874 6:64431272-64431279 6:63721376-63721383 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs) deletion Pathogenic/Likely pathogenic 557700 rs1326370032 6:64430591-64430610 6:63720695-63720714 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.2167+5G>A SNV Pathogenic/Likely pathogenic 552447 rs771583281 1:216424240-216424240 1:216250898-216250898 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.4174G>T (p.Gly1392Ter) SNV Pathogenic/Likely pathogenic 551604 rs1177198729 1:216369972-216369972 1:216196630-216196630 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His) SNV Pathogenic/Likely pathogenic 546782 rs1555550617 17:1558827-1558827 17:1655533-1655533 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.6159del (p.Glu2054fs) deletion Pathogenic/Likely pathogenic 497726 rs769838859 1:216221880-216221880 1:216048538-216048538 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.413-1G>A SNV Pathogenic/Likely pathogenic 437976 rs189234741 16:57996515-57996515 16:57962611-57962611 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.311G>A (p.Arg104Gln) SNV Pathogenic/Likely pathogenic 438228 rs766096417 15:72104171-72104171 15:71811831-71811831 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2613dup (p.Arg872fs) duplication Pathogenic/Likely pathogenic 437955 rs1449723475 8:55539049-55539050 8:54626489-54626490 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter) SNV Pathogenic/Likely pathogenic 437995 rs541717028 2:112777074-112777074 2:112019497-112019497 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.1073+3_1073+6del short repeat Pathogenic/Likely pathogenic 438052 rs1553513437 2:182413401-182413404 2:181548674-181548677 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) indel Pathogenic/Likely pathogenic 438013 rs1553252388 1:215847906-215847918 1:215674564-215674576 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.9976C>T (p.Gln3326Ter) SNV Pathogenic/Likely pathogenic 438038 rs1288381992 1:215963607-215963607 1:215790265-215790265 RTN008 Retinitis Pigmentosa SCAPER NM_020843.4(SCAPER):c.3656G>A (p.Ser1219Asn) SNV Pathogenic/Likely pathogenic 427855 rs1305542291 15:76673768-76673768 15:76381427-76381427 RTN008 Retinitis Pigmentosa SCAPER NM_020843.3(SCAPER):c.1859_1861del (p.Glu620del) short repeat Pathogenic/Likely pathogenic 427856 rs1395475624 15:77046154-77046156 15:76753813-76753815 RTN008 Retinitis Pigmentosa CLN3 NM_000086.2(CLN3):c.1213C>T (p.Arg405Trp) SNV Pathogenic/Likely pathogenic 418137 rs139842473 16:28488941-28488941 16:28477620-28477620 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.6714del (p.Ile2239fs) deletion Pathogenic/Likely pathogenic 357699 rs752953889 6:64776242-64776242 6:64066349-64066349 RTN008 Retinitis Pigmentosa BBS1 NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) SNV Pathogenic/Likely pathogenic 370228 rs376894444 11:66283057-66283057 11:66515586-66515586 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) duplication Pathogenic/Likely pathogenic 372711 rs543698823 4:16008260-16008261 4:16006637-16006638 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) SNV Pathogenic/Likely pathogenic 374497 rs368088025 1:68912508-68912508 1:68446825-68446825 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.6937G>T (p.Gly2313Cys) SNV Pathogenic/Likely pathogenic 384319 rs199840367 1:216143987-216143987 1:215970645-215970645 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) SNV Likely pathogenic 13120 rs121917745 1:68895518-68895518 1:68429835-68429835 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.732C>G (p.Asn244Lys) SNV Likely pathogenic 98705 rs61755816 6:42672199-42672199 6:42704461-42704461 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.1496-6C>A SNV Likely pathogenic 99666 rs281865171 6:35466243-35466243 6:35498466-35498466 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.469+1G>A SNV Likely pathogenic 98786 rs62638646 X:38178081-38178081 X:38318828-38318828 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln) SNV Likely pathogenic 98699 rs61755810 6:42672272-42672272 6:42704534-42704534 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn) SNV Likely pathogenic 98671 rs61755787 6:42689604-42689604 6:42721866-42721866 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly) SNV Likely pathogenic 98689 rs61755800 6:42672297-42672297 6:42704559-42704559 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.4876G>A (p.Gly1626Arg) SNV Likely pathogenic 143135 rs527236106 8:55541318-55541318 8:54628758-54628758 RTN008 Retinitis Pigmentosa NRL NM_006177.5(NRL):c.23del (p.Leu8fs) deletion Likely pathogenic 143133 rs527236087 14:24552035-24552035 14:24082826-24082826 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.650del (p.Gly217fs) deletion Likely pathogenic 143137 rs527236105 8:55534710-55534710 8:54622150-54622150 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.225del (p.Gly76fs) deletion Likely pathogenic 143139 rs527236083 2:112686860-112686860 2:111929283-111929283 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.550G>C (p.Asp184His) SNV Likely pathogenic 143142 rs527236096 20:62626380-62626380 20:63995027-63995027 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.163C>T (p.Arg55Trp) SNV Likely pathogenic 143129 rs527236079 4:155665641-155665641 4:154744489-154744489 RTN008 Retinitis Pigmentosa MAK NM_001242957.3(MAK):c.340dup (p.Ala114fs) duplication Likely pathogenic 143121 rs527236082 6:10813894-10813895 6:10813661-10813662 RTN008 Retinitis Pigmentosa MAK NM_001242957.3(MAK):c.496C>T (p.Arg166Cys) SNV Likely pathogenic 143122 rs527236081 6:10804120-10804120 6:10803887-10803887 RTN008 Retinitis Pigmentosa MAK NM_001242957.3(MAK):c.553G>A (p.Ala185Thr) SNV Likely pathogenic 143123 rs527236080 6:10804063-10804063 6:10803830-10803830 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.217+5G>C SNV Likely pathogenic 143124 rs527236060 16:57998386-57998386 16:57964482-57964482 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2524dup (p.Thr842fs) duplication Likely pathogenic 143125 rs527236061 16:57938747-57938748 16:57904843-57904844 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.349G>A (p.Glu117Lys) SNV Likely pathogenic 143126 rs527236117 6:35479425-35479425 6:35511648-35511648 RTN008 Retinitis Pigmentosa RP1L1 NM_178857.6(RP1L1):c.235C>T (p.Arg79Cys) SNV Likely pathogenic 143165 rs377269054 8:10480477-10480477 8:10622967-10622967 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.562G>T (p.Glu188Ter) SNV Likely pathogenic 143148 rs527236094 19:54627162-54627162 19:54123783-54123783 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.615C>G (p.Tyr205Ter) SNV Likely pathogenic 143149 rs144738703 19:54627215-54627215 19:54123836-54123836 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.764A>T (p.Gln255Leu) SNV Likely pathogenic 143150 rs527236095 19:54627944-54627944 19:54124565-54124565 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.13466G>A (p.Gly4489Asp) SNV Likely pathogenic 143173 rs527236127 1:215847787-215847787 1:215674445-215674445 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.13847G>T (p.Gly4616Val) SNV Likely pathogenic 143174 rs527236124 1:215844600-215844600 1:215671258-215671258 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.14450G>A (p.Gly4817Glu) SNV Likely pathogenic 143176 rs527236125 1:215822002-215822002 1:215648660-215648660 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.1722_1723insGA (p.Cys575fs) insertion Likely pathogenic 143178 rs527236121 1:216465634-216465635 1:216292292-216292293 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter) SNV Likely pathogenic 143113 rs527236076 6:64472413-64472413 6:63762520-63762520 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.8376_8379dup (p.Glu2794fs) duplication Likely pathogenic 143114 rs527236070 6:64431547-64431548 6:63721651-63721652 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.7048del (p.Cys2350fs) deletion Likely pathogenic 143109 rs527236069 6:64694283-64694283 6:63984390-63984390 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.7694del (p.Asn2565fs) deletion Likely pathogenic 143110 rs527236078 6:64498027-64498027 6:63788134-63788134 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.5014C>T (p.Gln1672Ter) SNV Likely pathogenic 143106 rs527236074 6:65300746-65300746 6:64590853-64590853 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.5202_5203del (p.Phe1735fs) deletion Likely pathogenic 143107 rs527236071 6:65300557-65300558 6:64590664-64590665 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1345A>T (p.Lys449Ter) SNV Likely pathogenic 143100 rs527236077 6:66063465-66063465 6:65353572-65353572 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1750G>T (p.Glu584Ter) SNV Likely pathogenic 143101 rs527236072 6:66044889-66044889 6:65334996-65334996 RTN008 Retinitis Pigmentosa CNGA1 NM_001142564.1(CNGA1):c.1196A>G (p.Asp399Gly) SNV Likely pathogenic 143097 rs527236059 4:47939522-47939522 4:47937505-47937505 RTN008 Retinitis Pigmentosa CNGA1 NM_001142564.1(CNGA1):c.1840G>A (p.Gly614Ser) SNV Likely pathogenic 143098 rs527236057 4:47938878-47938878 4:47936861-47936861 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.4387del (p.Arg1463fs) deletion Likely pathogenic 143103 rs527236075 6:65301373-65301373 6:64591480-64591480 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.4395_4402dup (p.Asp1468fs) duplication Likely pathogenic 143104 rs527236073 6:65301357-65301358 6:64591464-64591465 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.979_982del (p.Pro327fs) deletion Likely pathogenic 143083 rs527236102 3:129252491-129252494 3:129533648-129533651 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.897G>C (p.Leu299Phe) SNV Likely pathogenic 143086 rs527236063 19:48343221-48343221 19:47839964-47839964 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2126del (p.Gly709fs) deletion Likely pathogenic 143087 rs527236055 2:29295002-29295002 2:29072136-29072136 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2988dup (p.Thr997fs) duplication Likely pathogenic 143088 rs527236056 2:29294139-29294140 2:29071273-29071274 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1084_1087dup (p.Val363fs) duplication Likely pathogenic 143089 rs527236109 X:38158366-38158367 X:38299113-38299114 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1905+76G>T SNV Likely pathogenic 143090 rs527236108 X:38146271-38146271 X:38287018-38287018 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.894_895del (p.Ser298fs) deletion Likely pathogenic 143093 rs527236111 X:38163927-38163928 X:38304674-38304675 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.922G>C (p.Ala308Pro) SNV Likely pathogenic 143094 rs527236112 X:38163900-38163900 X:38304647-38304647 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.993-1G>C SNV Likely pathogenic 143068 rs527236090 4:649728-649728 4:655939-655939 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.410G>A (p.Gly137Asp) SNV Likely pathogenic 143069 rs527236097 6:42689663-42689663 6:42721925-42721925 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.1576G>A (p.Glu526Lys) SNV Likely pathogenic 143066 rs527236091 4:654364-654364 4:660575-660575 RTN008 Retinitis Pigmentosa MYO7A NM_000260.4(MYO7A):c.1667G>T (p.Gly556Val) SNV Likely pathogenic 143064 rs527236085 11:76874011-76874011 11:77162965-77162965 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.490G>T (p.Val164Phe) SNV Likely pathogenic 143182 rs527236123 1:216592017-216592017 1:216418675-216418675 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.6399G>A (p.Trp2133Ter) SNV Likely pathogenic 143183 rs55958016 1:216173831-216173831 1:216000489-216000489 RTN008 Retinitis Pigmentosa USH2A NM_206933.2(USH2A):c.8682delG (p.Arg2894Serfs) deletion Likely pathogenic 143184 rs527236120 1:216040512-216040512 1:215867170-215867170 RTN008 Retinitis Pigmentosa AHI1 NM_001134831.2(AHI1):c.2087A>G (p.His696Arg) SNV Likely pathogenic 210114 rs797045224 6:135754344-135754344 6:135433206-135433206 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.6446C>A (p.Pro2149Gln) SNV Likely pathogenic 224753 rs869312182 1:216173784-216173784 1:216000442-216000442 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.1678C>T (p.Arg560Cys) SNV Likely pathogenic 217798 rs201541131 4:655986-655986 4:662197-662197 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2032C>T (p.Gln678Ter) SNV Likely pathogenic 236416 rs878853328 8:55538474-55538474 8:54625914-54625914 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.1540C>T (p.Arg514Ter) SNV Likely pathogenic 236443 rs199584830 4:47938971-47938971 4:47936954-47936954 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.262C>T (p.Gln88Ter) SNV Likely pathogenic 236512 rs878853394 16:57998062-57998062 16:57964158-57964158 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter) SNV Likely pathogenic 402227 rs1060499783 6:64694355-64694355 6:63984462-63984462 RTN008 Retinitis Pigmentosa ABCA4 NM_000350.3(ABCA4):c.5836-3C>A SNV Likely pathogenic 417993 rs1064793013 1:94473856-94473856 1:94008300-94008300 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys) SNV Likely pathogenic 438077 rs574162883 1:197398741-197398741 1:197429611-197429611 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.11507C>T (p.Pro3836Leu) SNV Likely pathogenic 438003 rs1553257685 1:215916560-215916560 1:215743218-215743218 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.1673T>C (p.Ile558Thr) SNV Likely pathogenic 438070 rs776788104 1:197390631-197390631 1:197421501-197421501 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.2017A>G (p.Lys673Glu) SNV Likely pathogenic 438072 rs1553260517 1:197390975-197390975 1:197421845-197421845 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.13331C>T (p.Pro4444Leu) SNV Likely pathogenic 438012 rs762388072 1:215847922-215847922 1:215674580-215674580 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.2179C>G (p.Arg727Gly) SNV Likely pathogenic 437996 rs746238212 2:112777089-112777089 2:112019512-112019512 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.2928del (p.Asn976fs) deletion Likely pathogenic 437940 rs770339774 3:100961626-100961626 3:101242782-101242782 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.2426G>A (p.Trp809Ter) SNV Likely pathogenic 437939 rs1553681348 3:100962749-100962749 3:101243905-101243905 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.118G>T (p.Glu40Ter) SNV Likely pathogenic 437937 rs1553687058 3:101038644-101038644 3:101319800-101319800 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.83A>G (p.Gln28Arg) SNV Likely pathogenic 437998 rs1553780837 3:129247659-129247659 3:129528816-129528816 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.1A>G (p.Met1Val) SNV Likely pathogenic 438191 rs781003757 4:619416-619416 4:625627-625627 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.1107+3A>G SNV Likely pathogenic 438188 rs370898371 4:650084-650084 4:656295-656295 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.1485dup (p.Pro496fs) duplication Likely pathogenic 438189 rs1360937549 4:654270-654271 4:660481-660482 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.1547T>C (p.Leu516Pro) SNV Likely pathogenic 438190 rs1553812554 4:654335-654335 4:660546-660546 RTN008 Retinitis Pigmentosa ARL6 NM_001278293.3(ARL6):c.281T>C (p.Ile94Thr) SNV Likely pathogenic 438186 rs771054395 3:97503825-97503825 3:97784981-97784981 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1710C>A (p.Tyr570Ter) SNV Likely pathogenic 438213 rs201644238 4:15995667-15995667 4:15994044-15994044 RTN008 Retinitis Pigmentosa ABCA4 NM_000350.3(ABCA4):c.5018+5G>A SNV Likely pathogenic 438098 rs1553188588 1:94486791-94486791 1:94021235-94021235 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.9785G>T (p.Gly3262Val) SNV Likely pathogenic 438034 rs1553263639 1:215972422-215972422 1:215799080-215799080 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.926C>T (p.Pro309Leu) SNV Likely pathogenic 438032 rs1359713084 1:216498864-216498864 1:216325522-216325522 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.8223+1G>C SNV Likely pathogenic 438027 rs1553273280 1:216061767-216061767 1:215888425-215888425 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.7358T>A (p.Val2453Asp) SNV Likely pathogenic 438025 rs1553274531 1:216074190-216074190 1:215900848-215900848 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.6050-1G>A SNV Likely pathogenic 438024 rs1035024403 1:216221990-216221990 1:216048648-216048648 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2656C>T (p.Gln886Ter) SNV Likely pathogenic 437956 rs1554519651 8:55539098-55539098 8:54626538-54626538 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2083del (p.Ile695fs) deletion Likely pathogenic 437949 rs1554519538 8:55538524-55538524 8:54625964-54625964 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2206dup (p.Thr736fs) duplication Likely pathogenic 437951 rs1554519554 8:55538647-55538648 8:54626087-54626088 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2219C>G (p.Ser740Ter) SNV Likely pathogenic 437952 rs1554519555 8:55538661-55538661 8:54626101-54626101 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2321del (p.Leu773_Leu774insTer) deletion Likely pathogenic 437953 rs1554519577 8:55538760-55538760 8:54626200-54626200 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2596_2597del (p.Leu866fs) deletion Likely pathogenic 437954 rs1554519635 8:55539037-55539038 8:54626477-54626478 RTN008 Retinitis Pigmentosa CYP4V2 NM_207352.4(CYP4V2):c.197T>G (p.Met66Arg) SNV Likely pathogenic 438149 rs745413794 4:187113174-187113174 4:186192020-186192020 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.5408C>G (p.Ser1803Ter) SNV Likely pathogenic 438199 rs1554183432 6:65300352-65300352 6:64590459-64590459 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.5317_5342delinsTA (p.Asn1773_Val1781delinsTer) indel Likely pathogenic 438198 rs1554183440 6:65300418-65300443 6:64590525-64590550 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.782del (p.Asp261fs) deletion Likely pathogenic 438167 rs1178184685 2:62067357-62067357 2:61840222-61840222 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.674_677GAAG[1] (p.Lys227fs) short repeat Likely pathogenic 438166 rs1553354861 2:62067458-62067461 2:61840323-61840326 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.6937C>T (p.Gln2313Ter) SNV Likely pathogenic 438207 rs1554194404 6:64694394-64694394 6:63984501-63984501 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.6545del (p.Asn2182fs) deletion Likely pathogenic 438206 rs1346842287 6:64791775-64791775 6:64081882-64081882 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.6502G>T (p.Glu2168Ter) SNV Likely pathogenic 438205 rs1554204963 6:64791818-64791818 6:64081925-64081925 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.6473T>C (p.Leu2158Pro) SNV Likely pathogenic 438204 rs777735735 6:64791847-64791847 6:64081954-64081954 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.6323G>A (p.Cys2108Tyr) SNV Likely pathogenic 438203 rs770111708 6:64940586-64940586 6:64230693-64230693 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.5928-3_5928-1del deletion Likely pathogenic 438201 rs1554152094 6:65098734-65098736 6:64388841-64388843 RTN008 Retinitis Pigmentosa AHI1 NM_001134831.2(AHI1):c.2569_2570insAG (p.Phe857Ter) insertion Likely pathogenic 438082 rs773278338 6:135749820-135749821 6:135428682-135428683 RTN008 Retinitis Pigmentosa AHI1 NM_001134831.2(AHI1):c.2429C>T (p.Pro810Leu) SNV Likely pathogenic 438081 rs1554338016 6:135751083-135751083 6:135429945-135429945 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.860_867del (p.Gln287fs) deletion Likely pathogenic 437968 rs1554268546 6:42666207-42666214 6:42698469-42698476 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.664T>C (p.Cys222Arg) SNV Likely pathogenic 437967 rs1554269053 6:42672267-42672267 6:42704529-42704529 RTN008 Retinitis Pigmentosa RPGRIP1 NM_020366.3(RPGRIP1):c.2890del (p.Ser964fs) deletion Likely pathogenic 438162 rs1555302710 14:21795960-21795960 14:21327801-21327801 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.5883del (p.Thr1962fs) deletion Likely pathogenic 437958 rs1554520068 8:55542325-55542325 8:54629765-54629765 RTN008 Retinitis Pigmentosa CDHR1 NM_033100.4(CDHR1):c.1527T>G (p.Tyr509Ter) SNV Likely pathogenic 438117 rs1477733493 10:85971445-85971445 10:84211689-84211689 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.287_298del (p.Gln96_Asn99del) deletion Likely pathogenic 438185 rs1555099048 11:61723224-61723235 11:61955752-61955763 RTN008 Retinitis Pigmentosa BBS1 NM_024649.5(BBS1):c.1713del (p.Gly572fs) deletion Likely pathogenic 438041 rs1555050487 11:66299438-66299438 11:66531967-66531967 RTN008 Retinitis Pigmentosa BBS10 NM_024685.4(BBS10):c.590A>G (p.Tyr197Cys) SNV Likely pathogenic 438154 rs756632517 12:76741175-76741175 12:76347395-76347395 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.761+2T>A SNV Likely pathogenic 437978 rs1555493707 16:57993790-57993790 16:57959886-57959886 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.664C>T (p.Gln222Ter) SNV Likely pathogenic 437977 rs750620302 16:57993889-57993889 16:57959985-57959985 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2980G>T (p.Glu994Ter) SNV Likely pathogenic 437974 rs1555488069 16:57931815-57931815 16:57897911-57897911 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2676C>A (p.Tyr892Ter) SNV Likely pathogenic 437973 rs1555488573 16:57937844-57937844 16:57903940-57903940 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly) SNV Likely pathogenic 438226 rs752997229 17:1554176-1554176 17:1650882-1650882 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.448_449del (p.Ser150fs) deletion Likely pathogenic 437961 rs1555801989 19:48342771-48342772 19:47839514-47839515 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.1A>T (p.Met1Leu) SNV Likely pathogenic 438044 rs1555791188 19:54621659-54621659 19:54118279-54118279 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.838_841dup (p.Gln281fs) duplication Likely pathogenic 438046 rs1555793207 19:54628016-54628017 19:54124637-54124638 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.1129del (p.Arg377fs) deletion Likely pathogenic 438043 rs1555794302 19:54631734-54631734 19:54128359-54128359 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1894_1897del (p.Asp632fs) deletion Likely pathogenic 438141 rs1555961964 X:38146355-38146358 X:38287102-38287105 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1429G>T (p.Glu477Ter) SNV Likely pathogenic 438140 rs1555962965 X:38150723-38150723 X:38291470-38291470 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1393del (p.Leu465fs) deletion Likely pathogenic 438139 rs1555964122 X:38156558-38156558 X:38297305-38297305 RTN008 Retinitis Pigmentosa EYS deletion Likely pathogenic 438239 6:64756070-64780034 6:64046177-64070141 RTN008 Retinitis Pigmentosa EYS deletion Likely pathogenic 438241 6:64491812-64513698 6:63781919-63803805 RTN008 Retinitis Pigmentosa EYS deletion Likely pathogenic 438242 6:64475599-64501270 6:63765706-63791377 RTN008 Retinitis Pigmentosa CERKL deletion Likely pathogenic 438234 2:182379157-182765581 2:181514430-181900854 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1237A>T (p.Arg413Ter) SNV Likely pathogenic 438136 rs771039023 X:38158217-38158217 X:38298964-38298964 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.914dup (p.Asn305fs) duplication Likely pathogenic 438148 rs1555965653 X:38163907-38163908 X:38304654-38304655 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.779-3C>A SNV Likely pathogenic 438147 rs1555965712 X:38164046-38164046 X:38304793-38304793 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.126T>G (p.Cys42Trp) SNV Likely pathogenic 438137 rs1555968526 X:38182680-38182680 X:38323427-38323427 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.338C>A (p.Ala113Asp) SNV Likely pathogenic 437943 rs1556318627 X:46713146-46713146 X:46853711-46853711 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.855dup (p.Val286fs) duplication Likely pathogenic 505327 rs1554125752 6:35473923-35473924 6:35506146-35506147 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.8678del (p.Asn2893fs) deletion Likely pathogenic 517188 rs1554163929 6:64431249-64431249 6:63721353-63721353 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.12448A>G (p.Thr4150Ala) SNV Likely pathogenic 493061 rs1172628170 1:215848805-215848805 1:215675463-215675463 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1905+345_1905+346del short repeat Likely pathogenic 438143 rs1555961849 X:38146001-38146002 X:38286748-38286749 RTN008 Retinitis Pigmentosa COL18A1 deletion Likely pathogenic 438236 21:46872674-46888339 21:45452760-45468425 RTN008 Retinitis Pigmentosa EYS deletion Likely pathogenic 438237 6:65602819-65658187 6:64892926-64948294 RTN008 Retinitis Pigmentosa EYS NC_000006.11:g.65133931_65156120dup duplication Likely pathogenic 438238 6:65133931-65156120 RTN008 Retinitis Pigmentosa MERTK deletion Likely pathogenic 438244 2:112648147-112739204 2:111890571-111981628 RTN008 Retinitis Pigmentosa PRPF31 deletion Likely pathogenic 438250 19:54622548-54633842 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.1147-153_1196del deletion Likely pathogenic 438251 rs1555794509 19:54632279-54632481 19:54128904-54129106 RTN008 Retinitis Pigmentosa RLBP1 deletion Likely pathogenic 438253 15:89750128-89757489 15:89206897-89214258 RTN008 Retinitis Pigmentosa RP1 deletion Likely pathogenic 438254 8:55532080-55543196 8:54619521-54630637 RTN008 Retinitis Pigmentosa TRPM6 deletion Likely pathogenic 438256 9:77388717-77398576 9:74773801-74783660 RTN008 Retinitis Pigmentosa USH2A deletion Likely pathogenic 438257 1:215836170-215851932 1:215662828-215678590 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.9259-503_9371+1650del deletion Likely pathogenic 438259 1:216009683-216011948 1:215836341-215838606 RTN008 Retinitis Pigmentosa USH2A deletion Likely pathogenic 438261 1:216259365-216318209 1:216086023-216144867 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.716G>T (p.Arg239Leu) SNV Likely pathogenic 536988 rs1239043055 14:68195965-68195965 14:67729248-67729248 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.8153_8154CA[1] (p.His2719fs) short repeat Likely pathogenic 554682 rs764229134 6:64436489-64436490 6:63726596-63726597 RTN008 Retinitis Pigmentosa DHX38 NM_014003.4(DHX38):c.971G>A (p.Arg324Gln) SNV Likely pathogenic 592160 rs766053952 16:72133641-72133641 16:72099742-72099742 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.8168del (p.Gln2723fs) deletion Likely pathogenic 558485 rs1168101857 6:64436477-64436477 6:63726584-63726584 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg) SNV Likely pathogenic 624249 rs373203896 6:64431148-64431148 6:63721252-63721252 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys) SNV Likely pathogenic 636015 1:197390850-197390850 1:197421720-197421720 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.3121A>G (p.Met1041Val) SNV Likely pathogenic 636016 1:197404114-197404114 1:197434984-197434984 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.3916_3921del (p.Cys1306_Val1307del) deletion Likely pathogenic 636017 1:197411333-197411338 1:197442203-197442208 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.13274C>A (p.Thr4425Lys) SNV Likely pathogenic 636116 1:215847979-215847979 1:215674637-215674637 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.12161G>T (p.Ser4054Ile) SNV Likely pathogenic 636114 1:215853624-215853624 1:215680282-215680282 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.5544_5545CT[1] (p.Ser1849fs) short repeat Likely pathogenic 636124 1:216251456-216251457 1:216078114-216078115 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.265G>C (p.Gly89Arg) SNV Likely pathogenic 636083 3:129247841-129247841 3:129528998-129528998 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.3005G>C (p.Cys1002Ser) SNV Likely pathogenic 636119 1:216390881-216390881 1:216217539-216217539 RTN008 Retinitis Pigmentosa ABCA4 NM_000350.3(ABCA4):c.2613G>A (p.Trp871Ter) SNV Likely pathogenic 635979 1:94517229-94517229 1:94051673-94051673 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.345C>G (p.Cys115Trp) SNV Likely pathogenic 636044 2:112686980-112686980 2:111929403-111929403 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2985dup (p.Pro996fs) duplication Likely pathogenic 636050 2:29294142-29294143 2:29071276-29071277 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.5009T>C (p.Val1670Ala) SNV Likely pathogenic 636121 1:216258198-216258198 1:216084856-216084856 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.9370A>G (p.Arg3124Gly) SNV Likely pathogenic 636129 1:216011334-216011334 1:215837992-215837992 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.873T>A (p.Cys291Ter) SNV Likely pathogenic 636031 6:66115250-66115250 6:65405357-65405357 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.350del (p.Asn117fs) deletion Likely pathogenic 636027 6:66204954-66204954 6:65495061-65495061 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.676C>T (p.Gln226Ter) SNV Likely pathogenic 636075 6:42672255-42672255 6:42704517-42704517 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.1654del (p.Arg552fs) deletion Likely pathogenic 636058 4:655961-655961 4:662172-662172 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.612del (p.Lys205fs) deletion Likely pathogenic 636056 5:149314144-149314144 5:149934581-149934581 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1A>G (p.Met1Val) SNV Likely pathogenic 636055 5:149324236-149324236 5:149944673-149944673 RTN008 Retinitis Pigmentosa ADGRV1 NM_032119.4(ADGRV1):c.17195del (p.Pro5732fs) deletion Likely pathogenic 635992 5:90144628-90144628 5:90848811-90848811 RTN008 Retinitis Pigmentosa MAK NM_001242957.2(MAK):c.1143dup (p.Lys382Ter) duplication Likely pathogenic 636039 6:10796230-10796231 6:10795997-10795998 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.2461C>T (p.Arg821Ter) SNV Likely pathogenic 636063 4:15982073-15982073 4:15980450-15980450 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.207dup (p.Ile70fs) duplication Likely pathogenic 636060 4:619621-619622 4:625832-625833 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.908C>G (p.Pro303Arg) SNV Likely pathogenic 636085 3:129251587-129251587 3:129532744-129532744 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.934C>T (p.Gln312Ter) SNV Likely pathogenic 636086 3:129251613-129251613 3:129532770-129532770 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.757+1G>A SNV Likely pathogenic 636045 2:112705145-112705145 2:111947568-111947568 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.960+1G>A SNV Likely pathogenic 636046 2:112725830-112725830 2:111968253-111968253 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.630+2T>A SNV Likely pathogenic 636064 4:16026813-16026813 4:16025190-16025190 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1620+1G>A SNV Likely pathogenic 636054 5:149275918-149275918 5:149896355-149896355 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1407+1G>A SNV Likely pathogenic 636053 5:149277925-149277925 5:149898362-149898362 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.627+2T>G SNV Likely pathogenic 636057 5:149314127-149314127 5:149934564-149934564 RTN008 Retinitis Pigmentosa ADGRV1 NM_032119.4(ADGRV1):c.4379-1G>A SNV Likely pathogenic 635993 5:89953721-89953721 5:90657904-90657904 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.7412-1G>C SNV Likely pathogenic 636029 6:64499118-64499118 6:63789225-63789225 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1179T>G (p.Tyr393Ter) SNV Likely pathogenic 636101 X:38158275-38158275 X:38299022-38299022 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.49C>T (p.Pro17Ser) SNV Likely pathogenic 636099 X:46696584-46696584 X:46837149-46837149 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.352C>G (p.Arg118Gly) SNV Likely pathogenic 636097 X:46713160-46713160 X:46853725-46853725 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.390T>A (p.Cys130Ter) SNV Likely pathogenic 636098 X:46713198-46713198 X:46853763-46853763 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.826del (p.Asp276fs) deletion Likely pathogenic 636100 X:46719479-46719479 X:46860044-46860044 RTN008 Retinitis Pigmentosa CHM NM_000390.4(CHM):c.3G>A (p.Met1Ile) SNV Likely pathogenic 636009 X:85302534-85302534 X:86047530-86047530 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.2257_2260del (p.Arg753fs) deletion Likely pathogenic 636107 X:38129067-38129070 X:38269814-38269817 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1731dup (p.Ala578fs) duplication Likely pathogenic 636106 X:38147135-38147136 X:38287882-38287883 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1236_1239del (p.Glu414fs) deletion Likely pathogenic 636103 X:38158215-38158218 X:38298962-38298965 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.554del (p.Lys185fs) deletion Likely pathogenic 636048 15:72104498-72104498 15:71812158-71812158 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.626dup (p.Tyr209Ter) duplication Likely pathogenic 636049 15:72104729-72104730 15:71812389-71812390 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.3131_3149dup (p.Phe1051fs) duplication Likely pathogenic 636014 16:57931393-57931394 16:57897489-57897490 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2570_2571insT (p.Glu857fs) insertion Likely pathogenic 636013 16:57938701-57938702 16:57904797-57904798 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2271del (p.Asn758fs) deletion Likely pathogenic 636012 16:57949186-57949186 16:57915282-57915282 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1345del (p.Ala449fs) deletion Likely pathogenic 636010 16:57973361-57973361 16:57939457-57939457 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.684G>C (p.Gln228His) SNV Likely pathogenic 636021 19:48343008-48343008 19:47839751-47839751 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.666_668del (p.Ile223del) deletion Likely pathogenic 636068 19:54627264-54627266 19:54123885-54123887 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.673del (p.Ala225fs) deletion Likely pathogenic 636069 19:54627270-54627270 19:54123891-54123891 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.961A>T (p.Lys321Ter) SNV Likely pathogenic 636071 19:54631463-54631463 19:54128088-54128088 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.3688C>T (p.Gln1230Ter) SNV Likely pathogenic 636094 8:55540130-55540130 8:54627570-54627570 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.4576G>T (p.Glu1526Ter) SNV Likely pathogenic 636095 8:55541018-55541018 8:54628458-54628458 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.226G>T (p.Gly76Trp) SNV Likely pathogenic 636078 14:68191854-68191854 14:67725137-67725137 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.610A>C (p.Lys204Gln) SNV Likely pathogenic 636079 14:68193859-68193859 14:67727142-67727142 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.962C>T (p.Ala321Val) SNV Likely pathogenic 636038 7:128038580-128038580 7:128398526-128398526 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.269del (p.His90fs) deletion Likely pathogenic 636093 8:55533795-55533795 8:54621235-54621235 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2026del (p.Ser676fs) deletion Likely pathogenic 636088 8:55538468-55538468 8:54625908-54625908 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2055T>G (p.Tyr685Ter) SNV Likely pathogenic 636089 8:55538497-55538497 8:54625937-54625937 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2115del (p.Gly706fs) deletion Likely pathogenic 636090 8:55538554-55538554 8:54625994-54625994 RTN008 Retinitis Pigmentosa USH2A NM_206933.2(USH2A):c.(4627+1_4628-1)_(4987+1_4988-1)del deletion Likely pathogenic 636143 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.62_482dup (p.Ile162Tyrfs) duplication Likely pathogenic 636181 2:112686693-112686694 2:111929116-111929117 RTN008 Retinitis Pigmentosa CLRN1 NM_052995.2(CLRN1):c.206-2A>T SNV Likely pathogenic 636163 3:150645990-150645990 3:150928203-150928203 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.3:c.(?_-1)_(*1_?)del deletion Likely pathogenic 636139 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.3:c.(?_-1)_(238+1_239-1)del deletion Likely pathogenic 636140 RTN008 Retinitis Pigmentosa CDH3 NM_001793.6(CDH3):c.3G>A (p.Met1Ile) SNV Likely pathogenic 636162 16:68679285-68679285 16:68645382-68645382 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.346G>C (p.Gly116Arg) SNV Likely pathogenic 636197 15:89760351-89760351 15:89217120-89217120 RTN008 Retinitis Pigmentosa EYS NM_001142800.1:c.(2137+1_2138-1)_(2259+1_2260-1)dup duplication Likely pathogenic 636133 RTN008 Retinitis Pigmentosa EYS NM_001142800.1(EYS):c.(2641+1_2642-1)_(2846+1_2847-1)del deletion Likely pathogenic 636134 RTN008 Retinitis Pigmentosa RDH5 NM_002905.4(RDH5):c.208C>T (p.Arg70Trp) SNV Likely pathogenic 636196 12:56115176-56115176 12:55721392-55721392 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.1670A>G (p.His557Arg) SNV Likely pathogenic 636186 4:655978-655978 4:662189-662189 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.361G>T (p.Glu121Ter) SNV Likely pathogenic 636208 6:35478776-35478776 6:35510999-35510999 RTN008 Retinitis Pigmentosa BBS9 NM_198428.3(BBS9):c.115A>G (p.Lys39Glu) SNV Likely pathogenic 636153 7:33192315-33192315 7:33152703-33152703 RTN008 Retinitis Pigmentosa MYO7A NM_000260.4(MYO7A):c.882_886dup (p.Gln296fs) duplication Likely pathogenic 636184 11:76869354-76869355 11:77158308-77158309 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.1556C>A (p.Pro519Gln) SNV Likely pathogenic 636166 1:197390514-197390514 1:197421384-197421384 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.1893T>G (p.Tyr631Ter) SNV Likely pathogenic 636167 1:197390851-197390851 1:197421721-197421721 RTN008 Retinitis Pigmentosa CACNA1F NM_001256789.3(CACNA1F):c.818-1G>A SNV Likely pathogenic 636005 X:49084910-49084910 X:49228448-49228448 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1573-3C>G SNV Likely pathogenic 636105 X:38147297-38147297 X:38288044-38288044 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.421-2A>G SNV Likely pathogenic 636067 19:54626831-54626831 19:54123452-54123452 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.855+1G>T SNV Likely pathogenic 636070 19:54628036-54628036 19:54124657-54124657 RTN008 Retinitis Pigmentosa BBS1 NM_024649.5(BBS1):c.1110+3G>C SNV Likely pathogenic 635996 11:66291356-66291356 11:66523885-66523885 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.1190dup (p.His398fs) duplication Likely pathogenic 636065 19:54632472-54632473 19:54129097-54129098 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.1234del (p.Gln411_Val412insTer) deletion Likely pathogenic 636066 19:54632518-54632518 19:54129143-54129143 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.8054G>A (p.Gly2685Glu) SNV Likely pathogenic 636030 6:64472371-64472371 6:63762478-63762478 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.402+1G>T SNV Likely pathogenic 636037 7:128043759-128043759 7:128403705-128403705 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.2028C>A (p.Cys676Ter) SNV Likely pathogenic 636209 1:216424384-216424384 1:216251042-216251042 RTN008 Retinitis Pigmentosa ALMS1 NM_015120.4(ALMS1):c.4150dup (p.Gln1384fs) duplication Likely pathogenic 636149 2:73677800-73677801 2:73450673-73450674 RTN008 Retinitis Pigmentosa BBS12 NM_152618.3(BBS12):c.1223A>G (p.Lys408Arg) SNV Likely pathogenic 636151 4:123664270-123664270 4:122743115-122743115 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.264_265dup (p.Gln89fs) duplication Likely pathogenic 636179 4:155665740-155665741 4:154744588-154744589 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.830_831del (p.Ser277fs) deletion Likely pathogenic 636201 8:55537271-55537272 8:54624711-54624712 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.2895dup (p.Cys966fs) duplication Likely pathogenic 802477 9:32541627-32541628 9:32541629-32541630 RTN008 Retinitis Pigmentosa SAG NM_000541.4:c.513_806del deletion Likely pathogenic 636229 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.294del (p.Ile99fs) deletion Likely pathogenic 638356 17:6331809-6331809 17:6428489-6428489 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.2T>G (p.Met1Arg) SNV Likely pathogenic 643636 2:182521732-182521732 2:181657005-181657005 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.820del (p.Arg274fs) deletion Likely pathogenic 802599 10:86018339-86018339 10:84258583-84258583 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.2183G>T (p.Arg728Leu) SNV Likely pathogenic 801732 2:96957616-96957616 2:96291878-96291878 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.1405A>G (p.Lys469Glu) SNV Likely pathogenic 801733 2:96962781-96962781 2:96297043-96297043 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.558-1G>C SNV Likely pathogenic 802071 4:47942887-47942887 4:47940870-47940870 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.3G>A (p.Met1Ile) SNV Likely pathogenic 804151 19:54621661-54621661 19:54118281-54118281 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.310+1_310+2insGGTGCTCAACCT insertion Likely pathogenic 803972 X:38180278-38180279 X:38321025-38321026 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.280T>C (p.Cys94Arg) SNV Likely pathogenic 803974 X:38180310-38180310 X:38321057-38321057 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.194G>A (p.Gly65Asp) SNV Likely pathogenic 803975 X:38182159-38182159 X:38322906-38322906 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.239-2A>G SNV Likely pathogenic 804347 19:54625237-54625237 19:54121858-54121858 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.362T>C (p.Ile121Thr) SNV Likely pathogenic 805930 14:68192786-68192786 14:67726069-67726069 RTN008 Retinitis Pigmentosa CNGA1 NM_001142564.1(CNGA1):c.1838T>G (p.Phe613Cys) SNV Likely pathogenic 812273 4:47938880-47938880 4:47936863-47936863 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.1056C>A (p.Ser352Arg) SNV Likely pathogenic 812274 4:47939455-47939455 4:47937438-47937438 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.560G>A (p.Cys187Tyr) SNV Likely pathogenic 812397 3:129251123-129251123 3:129532280-129532280 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.2042G>T (p.Arg681Leu) SNV Likely pathogenic 812431 2:96958828-96958828 2:96293090-96293090 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.497C>T (p.Ala166Val) SNV Likely pathogenic 812395 3:129249854-129249854 3:129531011-129531011 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.1751G>A (p.Arg584Lys) SNV Likely pathogenic 812321 2:62065673-62065673 2:61838538-61838538 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.292C>T (p.Arg98Trp) SNV Likely pathogenic 812306 1:26769333-26769333 1:26442842-26442842 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.754G>T (p.Gly252Cys) SNV Likely pathogenic 812462 1:216538325-216538325 1:216364983-216364983 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.1667T>C (p.Leu556Pro) SNV Likely pathogenic 812297 1:197390625-197390625 1:197421495-197421495 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.1844G>T (p.Gly615Val) SNV Likely pathogenic 812299 1:197390802-197390802 1:197421672-197421672 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.3991C>G (p.Arg1331Gly) SNV Likely pathogenic 812302 1:197411408-197411408 1:197442278-197442278 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.15143C>T (p.Ala5048Val) SNV Likely pathogenic 812446 1:215807955-215807955 1:215634613-215634613 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.14350G>A (p.Glu4784Lys) SNV Likely pathogenic 812447 1:215822102-215822102 1:215648760-215648760 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.13604T>G (p.Met4535Arg) SNV Likely pathogenic 812449 1:215847649-215847649 1:215674307-215674307 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.10733G>A (p.Ser3578Asn) SNV Likely pathogenic 812451 1:215955391-215955391 1:215782049-215782049 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.9419T>A (p.Ile3140Asn) SNV Likely pathogenic 812453 1:215990490-215990490 1:215817148-215817148 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.4544C>T (p.Thr1515Met) SNV Likely pathogenic 812456 1:216348677-216348677 1:216175335-216175335 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.3086G>C (p.Gly1029Ala) SNV Likely pathogenic 812457 1:216390800-216390800 1:216217458-216217458 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.494G>A (p.Gly165Asp) SNV Likely pathogenic 812421 X:38176694-38176694 X:38317441-38317441 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.352G>A (p.Val118Met) SNV Likely pathogenic 812353 15:72104297-72104297 15:71811957-71811957 RTN008 Retinitis Pigmentosa RPGRIP1 NM_020366.3(RPGRIP1):c.2249A>G (p.Tyr750Cys) SNV Likely pathogenic 812425 14:21793424-21793424 14:21325265-21325265 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.959T>C (p.Leu320Pro) SNV Likely pathogenic 812335 7:128038583-128038583 7:128398529-128398529 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.927G>T (p.Glu309Asp) SNV Likely pathogenic 812383 6:42666147-42666147 6:42698409-42698409 RTN008 Retinitis Pigmentosa PRPH2 NC_000006.12:g.42704380_42704382GAG[1] short repeat Likely pathogenic 812384 6:42672118-42672120 6:42704380-42704382 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.594C>G (p.Ser198Arg) SNV Likely pathogenic 812386 6:42672337-42672337 6:42704599-42704599 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.518A>C (p.Asp173Ala) SNV Likely pathogenic 812387 6:42689555-42689555 6:42721817-42721817 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.9329G>C (p.Gly3110Ala) SNV Likely pathogenic 812310 6:64430598-64430598 6:63720702-63720702 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.328T>C (p.Cys110Arg) SNV Likely pathogenic 812404 X:46713136-46713136 X:46853701-46853701 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.202G>C (p.Gly68Arg) SNV Likely pathogenic 812423 X:38182151-38182151 X:38322898-38322898 RTN008 Retinitis Pigmentosa CDH3 NM_001793.6(CDH3):c.2200G>A (p.Val734Met) SNV Likely pathogenic 812257 16:68729746-68729746 16:68695843-68695843 RTN008 Retinitis Pigmentosa DHX38 NM_014003.4(DHX38):c.2329C>T (p.Pro777Ser) SNV Likely pathogenic 812307 16:72139197-72139197 16:72105298-72105298 RTN008 Retinitis Pigmentosa CEP290 NM_025114.4(CEP290):c.7341_7344dup (p.Ser2449fs) duplication Likely pathogenic 830333 12:88443056-88443057 12:88049279-88049280 RTN008 Retinitis Pigmentosa ABCA4 NM_000350.3(ABCA4):c.2537A>T (p.Asp846Val) SNV Likely pathogenic 389679 rs779466403 1:94520717-94520717 1:94055161-94055161 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.928A>C (p.Thr310Pro) SNV Likely pathogenic 374177 rs1057518949 7:128038614-128038614 7:128398560-128398560 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr) SNV Conflicting interpretations of pathogenicity 252538 rs111991705 6:64431505-64431505 6:63721609-63721609 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.159+14C>T SNV Conflicting interpretations of pathogenicity 257959 rs199591689 16:58001018-58001018 16:57967114-57967114 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.505C>T (p.Leu169=) SNV Conflicting interpretations of pathogenicity 260367 rs1805022 15:72104450-72104450 15:71812110-71812110 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.801C>T (p.Val267=) SNV Conflicting interpretations of pathogenicity 255826 rs189358082 6:42672130-42672130 6:42704392-42704392 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.-25G>A SNV Conflicting interpretations of pathogenicity 262512 rs7145692 14:89291027-89291027 14:88824683-88824683 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.194A>G (p.Asp65Gly) SNV Conflicting interpretations of pathogenicity 262515 rs114557412 14:89305845-89305845 14:88839501-88839501 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.669G>A (p.Lys223=) SNV Conflicting interpretations of pathogenicity 262517 rs141304350 14:89319359-89319359 14:88853015-88853015 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.1401G>A (p.Pro467=) SNV Conflicting interpretations of pathogenicity 262513 rs114064158 14:89341423-89341423 14:88875079-88875079 RTN008 Retinitis Pigmentosa IQCB1 NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys) SNV Conflicting interpretations of pathogenicity 220867 rs140630401 3:121491530-121491530 3:121772683-121772683 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln) SNV Conflicting interpretations of pathogenicity 225327 rs114052315 1:197398616-197398616 1:197429486-197429486 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.2167+11C>T SNV Conflicting interpretations of pathogenicity 228210 rs139647897 1:216424234-216424234 1:216250892-216250892 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.486-1G>C SNV Conflicting interpretations of pathogenicity 228413 rs876657730 1:216592022-216592022 1:216418680-216418680 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.6118T>G (p.Cys2040Gly) SNV Conflicting interpretations of pathogenicity 236543 rs878853412 1:216221921-216221921 1:216048579-216048579 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.2180G>A (p.Arg727Gln) SNV Conflicting interpretations of pathogenicity 236454 rs878853354 2:112777090-112777090 2:112019513-112019513 RTN008 Retinitis Pigmentosa MYO7A NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys) SNV Conflicting interpretations of pathogenicity 229005 rs199810429 11:76893643-76893643 11:77182598-77182598 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.1077C>T (p.Asn359=) SNV Conflicting interpretations of pathogenicity 215974 rs150896551 14:89337920-89337920 14:88871576-88871576 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.1464G>C (p.Ala488=) SNV Conflicting interpretations of pathogenicity 215548 rs142073418 14:89343670-89343670 14:88877326-88877326 RTN008 Retinitis Pigmentosa BBS2 NM_031885.4(BBS2):c.401C>G (p.Pro134Arg) SNV Conflicting interpretations of pathogenicity 209043 rs376306240 16:56545141-56545141 16:56511229-56511229 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.10342G>A (p.Glu3448Lys) SNV Conflicting interpretations of pathogenicity 209203 rs368049814 1:215960057-215960057 1:215786715-215786715 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.6670G>T (p.Gly2224Cys) SNV Conflicting interpretations of pathogenicity 209202 rs149553844 1:216166497-216166497 1:215993155-215993155 RTN008 Retinitis Pigmentosa HGSNAT NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp) SNV Conflicting interpretations of pathogenicity 208815 rs754875934 8:43013853-43013853 8:43158710-43158710 RTN008 Retinitis Pigmentosa HGSNAT NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) SNV Conflicting interpretations of pathogenicity 208816 rs112029032 8:43054647-43054647 8:43199504-43199504 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.820+9G>A SNV Conflicting interpretations of pathogenicity 198113 rs189638090 2:182423284-182423284 2:181558557-181558557 RTN008 Retinitis Pigmentosa PHYH NM_006214.4(PHYH):c.678+5G>T SNV Conflicting interpretations of pathogenicity 198192 rs201499815 10:13330355-13330355 10:13288355-13288355 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu) SNV Conflicting interpretations of pathogenicity 198208 rs150427474 17:6328964-6328964 17:6425644-6425644 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.527+9G>T SNV Conflicting interpretations of pathogenicity 198220 rs376994481 19:54626948-54626948 19:54123569-54123569 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.815G>A (p.Arg272Gln) SNV Conflicting interpretations of pathogenicity 198231 rs34682727 14:88893018-88893018 14:88426674-88426674 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.312A>G (p.Glu104=) SNV Conflicting interpretations of pathogenicity 198390 rs76061451 4:47945417-47945417 4:47943400-47943400 RTN008 Retinitis Pigmentosa CLN3 NM_000086.2(CLN3):c.988G>A (p.Val330Ile) SNV Conflicting interpretations of pathogenicity 205095 rs386833744 16:28493494-28493494 16:28482173-28482173 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.6792G>A (p.Ser2264=) SNV Conflicting interpretations of pathogenicity 197470 rs369391284 17:1554463-1554463 17:1651169-1651169 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.300C>T (p.Ser100=) SNV Conflicting interpretations of pathogenicity 197877 rs746513362 14:68191928-68191928 14:67725211-67725211 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.891C>T (p.Leu297=) SNV Conflicting interpretations of pathogenicity 198852 rs41278234 20:62630980-62630980 20:63999627-63999627 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.6196G>A (p.Asp2066Asn) SNV Conflicting interpretations of pathogenicity 197270 rs149282954 8:55542638-55542638 8:54630078-54630078 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.2344A>G (p.Thr782Ala) SNV Conflicting interpretations of pathogenicity 196423 rs746320974 9:32542179-32542179 9:32542181-32542181 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.3826C>T (p.Pro1276Ser) SNV Conflicting interpretations of pathogenicity 197275 rs151316028 8:55540268-55540268 8:54627708-54627708 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.905G>A (p.Gly302Asp) SNV Conflicting interpretations of pathogenicity 197654 rs146646008 4:647921-647921 4:654132-654132 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) SNV Conflicting interpretations of pathogenicity 197670 rs114973968 5:149301253-149301253 5:149921690-149921690 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) SNV Conflicting interpretations of pathogenicity 195937 rs199689193 6:65300250-65300250 6:64590357-64590357 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.290C>T (p.Ala97Val) SNV Conflicting interpretations of pathogenicity 196576 rs35554630 2:27601843-27601843 2:27378976-27378976 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.519C>T (p.Ser173=) SNV Conflicting interpretations of pathogenicity 196577 rs199520071 2:27601614-27601614 2:27378747-27378747 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.267C>A (p.Arg89=) SNV Conflicting interpretations of pathogenicity 196599 rs200113889 14:89307210-89307210 14:88840866-88840866 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.284A>G (p.Lys95Arg) SNV Conflicting interpretations of pathogenicity 196600 rs150880478 14:89307227-89307227 14:88840883-88840883 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.3135C>T (p.Asn1045=) SNV Conflicting interpretations of pathogenicity 196673 rs539304668 16:57931408-57931408 16:57897504-57897504 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg) SNV Conflicting interpretations of pathogenicity 196674 rs148999583 16:57931428-57931428 16:57897524-57897524 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.5352C>T (p.Asn1784=) SNV Conflicting interpretations of pathogenicity 196868 rs141456140 17:1561844-1561844 17:1658550-1658550 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.794G>A (p.Arg265Gln) SNV Conflicting interpretations of pathogenicity 197127 rs144562730 4:647723-647723 4:653934-653934 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.29T>A (p.Met10Lys) SNV Conflicting interpretations of pathogenicity 197133 rs77384282 15:89761908-89761908 15:89218677-89218677 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.336C>T (p.Ala112=) SNV Conflicting interpretations of pathogenicity 197169 rs547740249 7:128045838-128045838 7:128405784-128405784 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2370-9C>T SNV Conflicting interpretations of pathogenicity 195865 rs374373659 16:57945788-57945788 16:57911884-57911884 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.138T>C (p.Asp46=) SNV Conflicting interpretations of pathogenicity 195310 rs76251057 19:54621796-54621796 19:54118416-54118416 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.84G>A (p.Thr28=) SNV Conflicting interpretations of pathogenicity 195371 rs149711133 1:156124453-156124453 1:156154662-156154662 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.600A>G (p.Thr200=) SNV Conflicting interpretations of pathogenicity 195442 rs77713666 1:197298081-197298081 1:197328951-197328951 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.2344G>A (p.Val782Met) SNV Conflicting interpretations of pathogenicity 195457 rs145124626 4:660395-660395 4:666606-666606 RTN008 Retinitis Pigmentosa CDHR1 NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) deletion Conflicting interpretations of pathogenicity 194793 rs794727197 10:85974313-85974319 10:84214557-84214563 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.515T>G (p.Leu172Arg) SNV Conflicting interpretations of pathogenicity 195261 rs180729424 8:55534041-55534041 8:54621481-54621481 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln) SNV Conflicting interpretations of pathogenicity 166517 rs148594393 1:216420226-216420226 1:216246884-216246884 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.486-13G>A SNV Conflicting interpretations of pathogenicity 166531 rs116367260 1:216592034-216592034 1:216418692-216418692 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg) SNV Conflicting interpretations of pathogenicity 166488 rs150230450 1:216219865-216219865 1:216046523-216046523 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=) SNV Conflicting interpretations of pathogenicity 166509 rs147947402 1:216373132-216373132 1:216199790-216199790 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.3139C>G (p.Leu1047Val) SNV Conflicting interpretations of pathogenicity 166512 rs727503735 1:216390747-216390747 1:216217405-216217405 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.3801G>A (p.Ala1267=) SNV Conflicting interpretations of pathogenicity 166508 rs537863698 1:216372979-216372979 1:216199637-216199637 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp) SNV Conflicting interpretations of pathogenicity 166511 rs34596189 1:216373385-216373385 1:216200043-216200043 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.2001C>T (p.His667=) SNV Conflicting interpretations of pathogenicity 178582 rs142870255 1:216424411-216424411 1:216251069-216251069 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.1608C>T (p.Cys536=) SNV Conflicting interpretations of pathogenicity 166524 rs187380128 1:216495261-216495261 1:216321919-216321919 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.1530C>T (p.Asp510=) SNV Conflicting interpretations of pathogenicity 178992 rs200940197 1:216496836-216496836 1:216323494-216323494 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.485+12T>C SNV Conflicting interpretations of pathogenicity 166533 rs201857884 1:216595182-216595182 1:216421840-216421840 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg) SNV Conflicting interpretations of pathogenicity 167058 rs187695569 2:62067006-62067006 2:61839871-61839871 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.6025A>G (p.Lys2009Glu) SNV Conflicting interpretations of pathogenicity 167048 rs559078881 6:65098636-65098636 6:64388743-64388743 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.301G>A (p.Ala101Thr) SNV Conflicting interpretations of pathogenicity 167633 rs141521563 2:234229395-234229395 2:233320749-233320749 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.2122G>A (p.Glu708Lys) SNV Conflicting interpretations of pathogenicity 167056 rs77562614 2:62053619-62053619 2:61826484-61826484 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.5474C>A (p.Thr1825Asn) SNV Conflicting interpretations of pathogenicity 167050 rs182151153 6:65300286-65300286 6:64590393-64590393 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1497C>T (p.Ile499=) SNV Conflicting interpretations of pathogenicity 167535 rs113895168 4:16002200-16002200 4:16000577-16000577 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.1401+4C>T SNV Conflicting interpretations of pathogenicity 167438 rs113246945 4:651287-651287 4:657498-657498 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.132G>C (p.Glu44Asp) SNV Conflicting interpretations of pathogenicity 166850 rs727503857 2:182521602-182521602 2:181656875-181656875 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.372C>T (p.Asn124=) SNV Conflicting interpretations of pathogenicity 166885 rs147591591 4:47945275-47945275 4:47943258-47943258 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.1533C>T (p.Ala511=) SNV Conflicting interpretations of pathogenicity 166957 rs142224492 1:197390491-197390491 1:197421361-197421361 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.589G>T (p.Ala197Ser) SNV Conflicting interpretations of pathogenicity 166847 rs151110889 2:182438504-182438504 2:181573777-181573777 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.781G>A (p.Val261Met) SNV Conflicting interpretations of pathogenicity 167864 rs61742428 2:27601352-27601352 2:27378485-27378485 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.197C>T (p.Thr66Ile) SNV Conflicting interpretations of pathogenicity 167059 rs145199539 2:62069482-62069482 2:61842347-61842347 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) SNV Conflicting interpretations of pathogenicity 166891 rs201162411 16:57935275-57935275 16:57901371-57901371 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.1523C>T (p.Ser508Leu) SNV Conflicting interpretations of pathogenicity 166843 rs146913105 2:182403834-182403834 2:181539107-181539107 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2600C>T (p.Pro867Leu) SNV Conflicting interpretations of pathogenicity 166760 rs182248363 2:29294528-29294528 2:29071662-29071662 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys) SNV Conflicting interpretations of pathogenicity 167431 rs139444207 5:149274769-149274769 5:149895206-149895206 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val) SNV Conflicting interpretations of pathogenicity 167051 rs147641443 6:65300775-65300775 6:64590882-64590882 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2418C>T (p.Pro806=) SNV Conflicting interpretations of pathogenicity 166761 rs189042259 2:29294710-29294710 2:29071844-29071844 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) SNV Conflicting interpretations of pathogenicity 193099 rs141252097 5:149323933-149323933 5:149944370-149944370 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) SNV Conflicting interpretations of pathogenicity 191189 rs140872693 4:16026841-16026841 4:16025218-16025218 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.468C>T (p.Phe156=) SNV Conflicting interpretations of pathogenicity 167636 rs375593027 2:234235799-234235799 2:233327153-233327153 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3058C>A (p.Gln1020Lys) SNV Conflicting interpretations of pathogenicity 193134 rs201355503 2:29294070-29294070 2:29071204-29071204 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3059A>G (p.Gln1020Arg) SNV Conflicting interpretations of pathogenicity 193135 rs200367963 2:29294069-29294069 2:29071203-29071203 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3178C>A (p.Pro1060Thr) SNV Conflicting interpretations of pathogenicity 193139 rs72861054 2:29293950-29293950 2:29071084-29071084 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3114G>C (p.Val1038=) SNV Conflicting interpretations of pathogenicity 193140 rs140790266 2:29294014-29294014 2:29071148-29071148 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr) SNV Conflicting interpretations of pathogenicity 193146 rs149601594 2:29295065-29295065 2:29072199-29072199 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.646G>A (p.Gly216Ser) SNV Conflicting interpretations of pathogenicity 191061 rs368098126 15:72104750-72104750 15:71812410-71812410 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser) SNV Conflicting interpretations of pathogenicity 191179 rs111784356 3:100948418-100948418 3:101229574-101229574 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.318T>C (p.Ser106=) SNV Conflicting interpretations of pathogenicity 167591 rs143761967 10:86008759-86008759 10:84249003-84249003 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.744+5A>G SNV Conflicting interpretations of pathogenicity 167592 rs143720091 10:86017767-86017767 10:84258011-84258011 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.228C>T (p.Leu76=) SNV Conflicting interpretations of pathogenicity 167601 rs142600056 8:55533754-55533754 8:54621194-54621194 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.299G>A (p.Arg100His) SNV Conflicting interpretations of pathogenicity 193073 rs555600300 4:619714-619714 4:625925-625925 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.132C>G (p.Cys44Trp) SNV Conflicting interpretations of pathogenicity 193074 rs199974771 4:619547-619547 4:625758-625758 RTN008 Retinitis Pigmentosa ROM1 NM_000327.3(ROM1):c.47G>A (p.Arg16His) SNV Conflicting interpretations of pathogenicity 193085 rs143166696 11:62380800-62380800 11:62613328-62613328 RTN008 Retinitis Pigmentosa ROM1 NM_000327.3(ROM1):c.81G>T (p.Leu27=) SNV Conflicting interpretations of pathogenicity 193086 rs148196509 11:62380834-62380834 11:62613362-62613362 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.2168C>T (p.Pro723Leu) SNV Conflicting interpretations of pathogenicity 193243 rs148247227 10:48388710-48388710 10:47350652-47350652 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.27G>A (p.Arg9=) SNV Conflicting interpretations of pathogenicity 193519 rs368855330 2:182521707-182521707 2:181656980-181656980 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.66C>G (p.Pro22=) SNV Conflicting interpretations of pathogenicity 193520 rs199762900 2:182521668-182521668 2:181656941-181656941 RTN008 Retinitis Pigmentosa RP9 NM_203288.2(RP9):c.34G>A (p.Ala12Thr) SNV Conflicting interpretations of pathogenicity 193521 rs775870239 7:33148951-33148951 7:33109339-33109339 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.634A>T (p.Thr212Ser) SNV Conflicting interpretations of pathogenicity 193628 rs192628905 16:57993919-57993919 16:57960015-57960015 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1345G>A (p.Val449Met) SNV Conflicting interpretations of pathogenicity 194072 rs200620291 4:16008270-16008270 4:16006647-16006647 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr) SNV Conflicting interpretations of pathogenicity 193819 rs72624961 7:128037043-128037043 7:128396989-128396989 RTN008 Retinitis Pigmentosa PITPNM3 NM_031220.4(PITPNM3):c.1688C>T (p.Thr563Met) SNV Conflicting interpretations of pathogenicity 194272 rs139119218 17:6373665-6373665 17:6470345-6470345 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1626C>T (p.Thr542=) SNV Conflicting interpretations of pathogenicity 194827 rs148735841 16:57957194-57957194 16:57923290-57923290 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) SNV Conflicting interpretations of pathogenicity 194931 rs201819948 6:65596611-65596611 6:64886718-64886718 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.2593C>T (p.Arg865Trp) SNV Conflicting interpretations of pathogenicity 194960 rs2230516 2:112786034-112786034 2:112028457-112028457 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.140G>A (p.Arg47Gln) SNV Conflicting interpretations of pathogenicity 283914 rs149949619 1:26764735-26764735 1:26438244-26438244 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.99G>A (p.Gln33=) SNV Conflicting interpretations of pathogenicity 285034 rs146455733 2:29297029-29297029 2:29074163-29074163 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.205G>A (p.Gly69Ser) SNV Conflicting interpretations of pathogenicity 282267 rs200102936 15:72103909-72103909 15:71811569-71811569 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1580C>T (p.Ala527Val) SNV Conflicting interpretations of pathogenicity 281324 rs78292723 16:57957240-57957240 16:57923336-57923336 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.5506T>C (p.Leu1836=) SNV Conflicting interpretations of pathogenicity 286517 rs147958141 17:1560055-1560055 17:1656761-1656761 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly) SNV Conflicting interpretations of pathogenicity 287074 rs62617075 4:15992900-15992900 4:15991277-15991277 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.8429C>T (p.Thr2810Ile) SNV Conflicting interpretations of pathogenicity 287296 rs144513453 6:64431498-64431498 6:63721602-63721602 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.2103C>G (p.Pro701=) SNV Conflicting interpretations of pathogenicity 289997 rs144436610 1:197391061-197391061 1:197421931-197421931 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.126G>C (p.Arg42=) SNV Conflicting interpretations of pathogenicity 290835 rs115853053 8:96281292-96281292 8:95269064-95269064 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.1929A>G (p.Ser643=) SNV Conflicting interpretations of pathogenicity 287585 rs369633003 2:62054316-62054316 2:61827181-61827181 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.2504-1G>C SNV Conflicting interpretations of pathogenicity 288747 rs201870319 4:663834-663834 4:670045-670045 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.868A>C (p.Ser290Arg) SNV Conflicting interpretations of pathogenicity 289314 rs182096110 4:16020080-16020080 4:16018457-16018457 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.495G>A (p.Pro165=) SNV Conflicting interpretations of pathogenicity 289316 rs182941675 11:61724329-61724329 11:61956857-61956857 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.30G>A (p.Lys10=) SNV Conflicting interpretations of pathogenicity 289614 rs782402689 X:46696565-46696565 X:46837130-46837130 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.2271C>T (p.Ile757=) SNV Conflicting interpretations of pathogenicity 289616 rs375986111 4:15987392-15987392 4:15985769-15985769 RTN008 Retinitis Pigmentosa PRPF3 NM_004698.4(PRPF3):c.780G>A (p.Glu260=) SNV Conflicting interpretations of pathogenicity 292498 rs80201355 1:150307457-150307457 1:150334986-150334986 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.95G>T (p.Gly32Val) SNV Conflicting interpretations of pathogenicity 292844 rs577740555 1:156124464-156124464 1:156154673-156154673 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.405T>C (p.Asn135=) SNV Conflicting interpretations of pathogenicity 292845 rs56271605 1:156128220-156128220 1:156158429-156158429 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.492C>T (p.Ile164=) SNV Conflicting interpretations of pathogenicity 292846 rs562037528 1:156128539-156128539 1:156158748-156158748 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.1215G>T (p.Thr405=) SNV Conflicting interpretations of pathogenicity 292851 rs151260330 1:156142697-156142697 1:156172906-156172906 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.1694-13C>G SNV Conflicting interpretations of pathogenicity 292853 rs144540956 1:156146183-156146183 1:156176392-156176392 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.*188G>T SNV Conflicting interpretations of pathogenicity 292864 rs117762142 1:156146976-156146976 1:156177185-156177185 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.*366G>A SNV Conflicting interpretations of pathogenicity 292865 rs577699691 1:156147154-156147154 1:156177363-156177363 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.2187G>A (p.Pro729=) SNV Conflicting interpretations of pathogenicity 292858 rs41265019 1:156146689-156146689 1:156176898-156176898 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.810+7G>A SNV Conflicting interpretations of pathogenicity 292848 rs568949451 1:156130827-156130827 1:156161036-156161036 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.1086A>C (p.Ser362=) SNV Conflicting interpretations of pathogenicity 292849 rs145993678 1:156132837-156132837 1:156163046-156163046 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.2419C>T (p.Leu807=) SNV Conflicting interpretations of pathogenicity 294679 rs371089348 1:197396874-197396874 1:197427744-197427744 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.3878+15A>T SNV Conflicting interpretations of pathogenicity 294690 rs200217112 1:197407820-197407820 1:197438690-197438690 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.*393T>C SNV Conflicting interpretations of pathogenicity 294695 rs147966959 1:197447402-197447402 1:197478272-197478272 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.1539C>T (p.Thr513=) SNV Conflicting interpretations of pathogenicity 295441 rs199939890 1:216496827-216496827 1:216323485-216323485 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.486-15C>T SNV Conflicting interpretations of pathogenicity 295447 rs114194722 1:216592036-216592036 1:216418694-216418694 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala) SNV Conflicting interpretations of pathogenicity 295431 rs372081834 1:216373248-216373248 1:216199906-216199906 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.3320T>G (p.Ile1107Ser) SNV Conflicting interpretations of pathogenicity 295433 rs146372677 1:216373460-216373460 1:216200118-216200118 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.1172-12A>G SNV Conflicting interpretations of pathogenicity 294670 rs146175509 1:197390118-197390118 1:197420988-197420988 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.2225T>C (p.Phe742Ser) SNV Conflicting interpretations of pathogenicity 294675 rs140494140 1:197396680-197396680 1:197427550-197427550 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.2230C>A (p.Arg744=) SNV Conflicting interpretations of pathogenicity 294676 rs150412614 1:197396685-197396685 1:197427555-197427555 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.2843-13C>T SNV Conflicting interpretations of pathogenicity 294682 rs199808176 1:197403823-197403823 1:197434693-197434693 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.3228T>C (p.Asp1076=) SNV Conflicting interpretations of pathogenicity 294686 rs780576185 1:197404221-197404221 1:197435091-197435091 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.3397G>A (p.Val1133Met) SNV Conflicting interpretations of pathogenicity 294687 rs116246250 1:197404390-197404390 1:197435260-197435260 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.1752C>T (p.Asp584=) SNV Conflicting interpretations of pathogenicity 294672 rs750442312 1:197390710-197390710 1:197421580-197421580 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.2010T>C (p.Cys670=) SNV Conflicting interpretations of pathogenicity 294673 rs201949837 1:197390968-197390968 1:197421838-197421838 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.2307C>T (p.Arg769=) SNV Conflicting interpretations of pathogenicity 294677 rs151104285 1:197396762-197396762 1:197427632-197427632 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.3695A>G (p.His1232Arg) SNV Conflicting interpretations of pathogenicity 294688 rs142090517 1:197404688-197404688 1:197435558-197435558 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.3750-3T>C SNV Conflicting interpretations of pathogenicity 294689 rs187937543 1:197407674-197407674 1:197438544-197438544 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.4445C>T (p.Thr1482Ile) SNV Conflicting interpretations of pathogenicity 295422 rs200790812 1:216348776-216348776 1:216175434-216175434 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.990T>C (p.Thr330=) SNV Conflicting interpretations of pathogenicity 297079 rs773902080 1:26795610-26795610 1:26469119-26469119 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.267C>T (p.Tyr89=) SNV Conflicting interpretations of pathogenicity 298024 rs372620785 1:68910545-68910545 1:68444862-68444862 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.1261C>T (p.Arg421Trp) SNV Conflicting interpretations of pathogenicity 330752 rs142985827 2:112740535-112740535 2:111982958-111982958 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.1194C>T (p.Asp398=) SNV Conflicting interpretations of pathogenicity 298020 rs139640666 1:68897203-68897203 1:68431520-68431520 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.1960+8C>T SNV Conflicting interpretations of pathogenicity 330763 rs112541306 2:112766060-112766060 2:112008483-112008483 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.2028C>T (p.Tyr676=) SNV Conflicting interpretations of pathogenicity 330764 rs56225811 2:112767592-112767592 2:112010015-112010015 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.960+9C>A SNV Conflicting interpretations of pathogenicity 330750 rs373198570 2:112725838-112725838 2:111968261-111968261 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.313C>T (p.Arg105Trp) SNV Conflicting interpretations of pathogenicity 333011 rs149078111 2:182468732-182468732 2:181604005-181604005 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.15G>A (p.Arg5=) SNV Conflicting interpretations of pathogenicity 333016 rs762405291 2:182521719-182521719 2:181656992-181656992 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.900T>C (p.His300=) SNV Conflicting interpretations of pathogenicity 333007 rs183252158 2:182413580-182413580 2:181548853-181548853 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.1260C>T (p.Leu420=) SNV Conflicting interpretations of pathogenicity 335553 rs112828880 2:27600778-27600778 2:27377911-27377911 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.867C>T (p.Thr289=) SNV Conflicting interpretations of pathogenicity 335667 rs199729963 2:29296261-29296261 2:29073395-29073395 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.711+10C>T SNV Conflicting interpretations of pathogenicity 138638 rs201100689 4:629768-629768 4:635979-635979 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) SNV Conflicting interpretations of pathogenicity 137257 rs201580493 6:65016935-65016935 6:64307042-64307042 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1086G>A (p.Ala362=) SNV Conflicting interpretations of pathogenicity 138633 rs142259966 5:149283238-149283238 5:149903675-149903675 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) SNV Conflicting interpretations of pathogenicity 99914 rs62645749 1:197298095-197298095 1:197328965-197328965 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1546C>G (p.Leu516Val) SNV Conflicting interpretations of pathogenicity 100556 rs61733362 5:149275993-149275993 5:149896430-149896430 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.1428C>T (p.Thr476=) SNV Conflicting interpretations of pathogenicity 99869 rs62636282 1:197390386-197390386 1:197421256-197421256 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.1647T>C (p.Asn549=) SNV Conflicting interpretations of pathogenicity 99872 rs62636283 1:197390605-197390605 1:197421475-197421475 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.1699C>T (p.Leu567Phe) SNV Conflicting interpretations of pathogenicity 99686 rs148060787 11:61730325-61730325 11:61962853-61962853 RTN008 Retinitis Pigmentosa FTH1 NM_004183.4(BEST1):c.1699C>T (p.Leu567Phe) SNV Conflicting interpretations of pathogenicity 99686 rs148060787 11:61730325-61730325 11:61962853-61962853 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.602T>C (p.Ile201Thr) SNV Conflicting interpretations of pathogenicity 99726 rs199529046 11:61724436-61724436 11:61956964-61956964 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.637-6C>T SNV Conflicting interpretations of pathogenicity 99732 rs62639356 11:61724853-61724853 11:61957381-61957381 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.234C>T (p.Ser78=) SNV Conflicting interpretations of pathogenicity 99791 rs62635774 17:6337281-6337281 17:6433961-6433961 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.878G>A (p.Arg293His) SNV Conflicting interpretations of pathogenicity 100582 rs34072093 2:112725747-112725747 2:111968170-111968170 RTN008 Retinitis Pigmentosa TTC8 NM_198309.3(TTC8):c.595-5C>T SNV Conflicting interpretations of pathogenicity 100608 rs137853922 14:89319310-89319310 14:88852966-88852966 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.99G>T (p.Arg33Ser) SNV Conflicting interpretations of pathogenicity 100609 rs59691602 1:197297580-197297580 1:197328450-197328450 RTN008 Retinitis Pigmentosa KIZ NM_018474.6(KIZ):c.226C>T (p.Arg76Ter) SNV Conflicting interpretations of pathogenicity 128241 rs202210819 20:21117104-21117104 20:21136463-21136463 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.250C>T (p.Arg84Cys) SNV Conflicting interpretations of pathogenicity 143084 rs115857633 2:234229344-234229344 2:233320698-233320698 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.3489T>A (p.Asn1163Lys) SNV Conflicting interpretations of pathogenicity 143102 rs150951106 6:65336093-65336093 6:64626200-64626200 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) SNV Conflicting interpretations of pathogenicity 143179 rs201527662 1:216419934-216419934 1:216246592-216246592 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys) SNV Conflicting interpretations of pathogenicity 143147 rs527236086 15:72104309-72104309 15:71811969-71811969 RTN008 Retinitis Pigmentosa CNGB3 NM_019098.4(CNGB3):c.1208G>A (p.Arg403Gln) SNV Conflicting interpretations of pathogenicity 143154 rs147876778 8:87645092-87645092 8:86632864-86632864 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.9209T>C (p.Ile3070Thr) SNV Conflicting interpretations of pathogenicity 143116 rs183589498 6:64430718-64430718 6:63720822-63720822 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.1871G>A (p.Arg624Lys) SNV Conflicting interpretations of pathogenicity 143143 rs527236115 2:96959219-96959219 2:96293481-96293481 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter) SNV Conflicting interpretations of pathogenicity 143136 rs118031911 8:55542239-55542239 8:54629679-54629679 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe) SNV Conflicting interpretations of pathogenicity 98653 rs61755770 6:42689940-42689940 6:42722202-42722202 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.249C>T (p.Tyr83=) SNV Conflicting interpretations of pathogenicity 98658 rs61755775 6:42689824-42689824 6:42722086-42722086 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.729C>T (p.Arg243=) SNV Conflicting interpretations of pathogenicity 95908 rs151338404 14:88892932-88892932 14:88426588-88426588 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.1301T>C (p.Met434Thr) SNV Conflicting interpretations of pathogenicity 96033 rs146822426 1:156142783-156142783 1:156172992-156172992 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.1153C>G (p.Gln385Glu) SNV Conflicting interpretations of pathogenicity 96216 rs139266382 2:62066986-62066986 2:61839851-61839851 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.708C>T (p.Tyr236=) SNV Conflicting interpretations of pathogenicity 98702 rs61755813 6:42672223-42672223 6:42704485-42704485 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu) SNV Conflicting interpretations of pathogenicity 98715 rs62645939 6:42666208-42666208 6:42698470-42698470 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu) SNV Conflicting interpretations of pathogenicity 98721 rs61748434 6:42666136-42666136 6:42698398-42698398 RTN008 Retinitis Pigmentosa PRPF3 NM_004698.4(PRPF3):c.1032A>G (p.Thr344=) SNV Conflicting interpretations of pathogenicity 95158 rs143350315 1:150307709-150307709 1:150335238-150335238 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.117+6C>A SNV Conflicting interpretations of pathogenicity 95442 rs191680997 20:2644565-2644565 20:2663919-2663919 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.2928G>A (p.Thr976=) SNV Conflicting interpretations of pathogenicity 95551 rs375734152 2:96955549-96955549 2:96289811-96289811 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.516T>C (p.His172=) SNV Conflicting interpretations of pathogenicity 95583 rs62637017 17:6330327-6330327 17:6427007-6427007 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.3038C>T (p.Pro1013Leu) SNV Conflicting interpretations of pathogenicity 95749 rs116450347 3:100951820-100951820 3:101232976-101232976 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys) SNV Conflicting interpretations of pathogenicity 99684 rs147192139 11:61730295-61730295 11:61962823-61962823 RTN008 Retinitis Pigmentosa FTH1 NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys) SNV Conflicting interpretations of pathogenicity 99684 rs147192139 11:61730295-61730295 11:61962823-61962823 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.253-15G>A SNV Conflicting interpretations of pathogenicity 99600 rs145805694 19:48342562-48342562 19:47839305-47839305 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) SNV Conflicting interpretations of pathogenicity 99605 rs61748442 19:48342749-48342749 19:47839492-47839492 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.549G>A (p.Gly183=) SNV Conflicting interpretations of pathogenicity 99613 rs61748451 19:48342873-48342873 19:47839616-47839616 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.597C>T (p.Ser199=) SNV Conflicting interpretations of pathogenicity 99617 rs61748455 19:48342921-48342921 19:47839664-47839664 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr) SNV Conflicting interpretations of pathogenicity 99664 rs141980901 6:35467767-35467767 6:35499990-35499990 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.399T>C (p.Leu133=) SNV Conflicting interpretations of pathogenicity 98867 rs59257923 1:68910310-68910310 1:68444627-68444627 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.432C>T (p.Tyr144=) SNV Conflicting interpretations of pathogenicity 98869 rs56021047 1:68910277-68910277 1:68444594-68444594 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.48T>C (p.Phe16=) SNV Conflicting interpretations of pathogenicity 98871 rs62642581 1:68914353-68914353 1:68448670-68448670 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.978G>T (p.Val326=) SNV Conflicting interpretations of pathogenicity 98903 rs61752907 1:68904645-68904645 1:68438962-68438962 RTN008 Retinitis Pigmentosa ABCA4 NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg) SNV Conflicting interpretations of pathogenicity 99332 rs61753017 1:94486888-94486888 1:94021332-94021332 RTN008 Retinitis Pigmentosa ABCA4 NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) SNV Conflicting interpretations of pathogenicity 99398 rs1800552 1:94476377-94476377 1:94010821-94010821 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.303C>T (p.Arg101=) SNV Conflicting interpretations of pathogenicity 92847 rs144254383 15:89760394-89760394 15:89217163-89217163 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.313G>A (p.Glu105Lys) SNV Conflicting interpretations of pathogenicity 92767 rs398123299 4:619728-619728 4:625939-625939 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.615C>T (p.Asp205=) SNV Conflicting interpretations of pathogenicity 92768 rs149293844 4:628612-628612 4:634823-634823 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.655T>C (p.Tyr219His) SNV Conflicting interpretations of pathogenicity 92769 rs62295357 4:629702-629702 4:635913-635913 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.879T>G (p.Leu293=) SNV Conflicting interpretations of pathogenicity 48609 rs3767698 1:216498911-216498911 1:216325569-216325569 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.78T>C (p.Ala26=) SNV Conflicting interpretations of pathogenicity 48591 rs59139861 1:216595601-216595601 1:216422259-216422259 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr) SNV Conflicting interpretations of pathogenicity 48601 rs111033529 1:216052233-216052233 1:215878891-215878891 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.653T>A (p.Val218Glu) SNV Conflicting interpretations of pathogenicity 48564 rs397518026 1:216538426-216538426 1:216365084-216365084 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.688G>A (p.Val230Met) SNV Conflicting interpretations of pathogenicity 48572 rs45500891 1:216538391-216538391 1:216365049-216365049 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.3621C>T (p.Ile1207=) SNV Conflicting interpretations of pathogenicity 48505 rs146462407 1:216373159-216373159 1:216199817-216199817 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val) SNV Conflicting interpretations of pathogenicity 48506 rs200276882 1:216373080-216373080 1:216199738-216199738 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) SNV Conflicting interpretations of pathogenicity 48518 rs148000219 1:216348661-216348661 1:216175319-216175319 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) SNV Conflicting interpretations of pathogenicity 48520 rs41303255 1:216348635-216348635 1:216175293-216175293 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe) SNV Conflicting interpretations of pathogenicity 48521 rs111033333 1:216270469-216270469 1:216097127-216097127 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.478G>A (p.Gly160Ser) SNV Conflicting interpretations of pathogenicity 48522 rs111033479 1:216595201-216595201 1:216421859-216421859 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1476A>C (p.Gln492His) SNV Conflicting interpretations of pathogenicity 93009 rs17711594 5:149276063-149276063 5:149896500-149896500 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1963C>T (p.His655Tyr) SNV Conflicting interpretations of pathogenicity 93010 rs78775072 5:149264106-149264106 5:149884543-149884543 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.594G>A (p.Val198=) SNV Conflicting interpretations of pathogenicity 93011 rs398123394 5:149314162-149314162 5:149934599-149934599 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.4735T>G (p.Leu1579Val) SNV Conflicting interpretations of pathogenicity 77363 rs200860068 8:55541177-55541177 8:54628617-54628617 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) SNV Conflicting interpretations of pathogenicity 92860 rs149916178 1:68904660-68904660 1:68438977-68438977 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.5601T>C (p.Ser1867=) SNV Conflicting interpretations of pathogenicity 93617 rs182322608 6:65300159-65300159 6:64590266-64590266 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3291G>A (p.Gln1097=) SNV Conflicting interpretations of pathogenicity 93475 rs183536545 2:29293837-29293837 2:29070971-29070971 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2309A>C (p.Gln770Pro) SNV Conflicting interpretations of pathogenicity 93604 rs398123574 6:65655758-65655758 6:64945865-64945865 RTN008 Retinitis Pigmentosa TRPM1 NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe) SNV Conflicting interpretations of pathogenicity 94063 rs138886378 15:31359348-31359348 15:31067145-31067145 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1631G>A (p.Arg544His) SNV Conflicting interpretations of pathogenicity 94087 rs41284962 10:48389247-48389247 10:47350115-47350115 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1977C>T (p.Asn659=) SNV Conflicting interpretations of pathogenicity 95329 rs149028760 4:15992851-15992851 4:15991228-15991228 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1479G>A (p.Pro493=) SNV Conflicting interpretations of pathogenicity 93696 rs1052029 16:57965676-57965676 16:57931772-57931772 RTN008 Retinitis Pigmentosa ROM1 NM_000327.3(ROM1):c.339dup (p.Leu114fs) duplication Conflicting interpretations of pathogenicity 12998 rs71458427 11:62381083-62381084 11:62613611-62613612 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.484G>A (p.Val162Met) SNV Conflicting interpretations of pathogenicity 5738 rs137853138 1:197297965-197297965 1:197328835-197328835 RTN008 Retinitis Pigmentosa ABCA4 NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) SNV Conflicting interpretations of pathogenicity 7879 rs76157638 1:94517254-94517254 1:94051698-94051698 RTN008 Retinitis Pigmentosa ABCA4 NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) SNV Conflicting interpretations of pathogenicity 7884 rs41292677 1:94467548-94467548 1:94001992-94001992 RTN008 Retinitis Pigmentosa ABCA4 NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) SNV Conflicting interpretations of pathogenicity 99067 rs61751392 1:94528806-94528806 1:94063250-94063250 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) SNV Conflicting interpretations of pathogenicity 39614 rs62645748 1:197403836-197403836 1:197434706-197434706 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.1179A>G (p.Gln393=) SNV Conflicting interpretations of pathogenicity 48383 rs148447919 1:216497659-216497659 1:216324317-216324317 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp) SNV Conflicting interpretations of pathogenicity 48409 rs397517984 1:215848379-215848379 1:215675037-215675037 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) SNV Conflicting interpretations of pathogenicity 48437 rs35730265 1:216496932-216496932 1:216323590-216323590 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) SNV Conflicting interpretations of pathogenicity 48472 rs35818432 1:216465694-216465694 1:216292352-216292352 RTN008 Retinitis Pigmentosa CLRN1 NM_001195794.1(CLRN1):c.144T>G (p.Asn48Lys) SNV Conflicting interpretations of pathogenicity 4395 rs111033258 3:150690352-150690352 3:150972565-150972565 RTN008 Retinitis Pigmentosa CLRN1-AS1 NM_001195794.1(CLRN1):c.144T>G (p.Asn48Lys) SNV Conflicting interpretations of pathogenicity 4395 rs111033258 3:150690352-150690352 3:150972565-150972565 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.2052A>G (p.Gln684=) SNV Conflicting interpretations of pathogenicity 48482 rs111033248 1:216424360-216424360 1:216251018-216251018 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr) SNV Conflicting interpretations of pathogenicity 48488 rs111033481 1:216420190-216420190 1:216246848-216246848 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.3123C>A (p.His1041Gln) SNV Conflicting interpretations of pathogenicity 48495 rs149304901 1:216390763-216390763 1:216217421-216217421 RTN008 Retinitis Pigmentosa PITPNM3 NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) SNV Conflicting interpretations of pathogenicity 1994 rs76024428 17:6371557-6371557 17:6468237-6468237 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.682G>A (p.Asp228Asn) SNV Conflicting interpretations of pathogenicity 2748 rs267606676 11:61724904-61724904 11:61957432-61957432 RTN008 Retinitis Pigmentosa CNGB3 NM_019098.4(CNGB3):c.1148del (p.Thr383fs) deletion Conflicting interpretations of pathogenicity 5225 rs397515360 8:87656009-87656009 8:86643781-86643781 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*536A>C SNV Conflicting interpretations of pathogenicity 915153 8:96259309-96259309 8:95247081-95247081 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.44A>G (p.Lys15Arg) SNV Conflicting interpretations of pathogenicity 910955 6:42690029-42690029 6:42722291-42722291 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*1079G>A SNV Conflicting interpretations of pathogenicity 908512 6:42664954-42664954 6:42697216-42697216 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*509G>A SNV Conflicting interpretations of pathogenicity 910496 6:42665524-42665524 6:42697786-42697786 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*152G>A SNV Conflicting interpretations of pathogenicity 909688 6:42665881-42665881 6:42698143-42698143 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.955T>C (p.Phe319Leu) SNV Conflicting interpretations of pathogenicity 908960 6:42666119-42666119 6:42698381-42698381 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.852C>A (p.Arg284=) SNV Conflicting interpretations of pathogenicity 909882 6:42666222-42666222 6:42698484-42698484 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.*196C>T SNV Conflicting interpretations of pathogenicity 909847 7:128032865-128032865 7:128392811-128392811 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*2212C>T SNV Conflicting interpretations of pathogenicity 912347 8:96257633-96257633 8:95245405-95245405 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*2166T>G SNV Conflicting interpretations of pathogenicity 912349 8:96257679-96257679 8:95245451-95245451 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*791G>T SNV Conflicting interpretations of pathogenicity 915151 8:96259054-96259054 8:95246826-95246826 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.735G>C (p.Leu245=) SNV Conflicting interpretations of pathogenicity 333009 rs140898616 2:182423378-182423378 2:181558651-181558651 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.2064T>C (p.Ile688=) SNV Conflicting interpretations of pathogenicity 336733 rs138464813 2:62053677-62053677 2:61826542-61826542 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.1989C>T (p.Val663=) SNV Conflicting interpretations of pathogenicity 336734 rs201362403 2:62054256-62054256 2:61827121-61827121 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.354G>T (p.Gln118His) SNV Conflicting interpretations of pathogenicity 336743 rs140622968 2:62069325-62069325 2:61842190-61842190 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.3561C>T (p.Ser1187=) SNV Conflicting interpretations of pathogenicity 342334 rs139496326 3:100948296-100948296 3:101229452-101229452 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.1382C>G (p.Thr461Arg) SNV Conflicting interpretations of pathogenicity 342350 rs201905772 3:100964807-100964807 3:101245963-101245963 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.6369C>T (p.Ser2123=) SNV Conflicting interpretations of pathogenicity 337523 rs61753580 2:96940792-96940792 2:96275054-96275054 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.*90G>A SNV Conflicting interpretations of pathogenicity 335077 rs143418950 2:234255648-234255648 2:233347002-233347002 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.-223C>G SNV Conflicting interpretations of pathogenicity 335064 rs140569105 2:234216474-234216474 2:233307828-233307828 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser) SNV Conflicting interpretations of pathogenicity 335664 rs200696965 2:29295831-29295831 2:29072965-29072965 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.102C>T (p.Gly34=) SNV Conflicting interpretations of pathogenicity 335673 rs149915190 2:29297026-29297026 2:29074160-29074160 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.1582C>T (p.Arg528Cys) SNV Conflicting interpretations of pathogenicity 335658 rs80151896 2:29295546-29295546 2:29072680-29072680 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.1013G>A (p.Arg338Gln) SNV Conflicting interpretations of pathogenicity 336739 rs149314387 2:62067126-62067126 2:61839991-61839991 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.717G>A (p.Pro239=) SNV Conflicting interpretations of pathogenicity 336741 rs377016856 2:62067422-62067422 2:61840287-61840287 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.574+9G>A SNV Conflicting interpretations of pathogenicity 337565 rs145559167 2:96967253-96967253 2:96301515-96301515 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.46-7T>C SNV Conflicting interpretations of pathogenicity 337569 rs373701482 2:96970613-96970613 2:96304875-96304875 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.5409C>T (p.Ser1803=) SNV Conflicting interpretations of pathogenicity 337534 rs139137932 2:96944364-96944364 2:96278626-96278626 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.1169G>A (p.Arg390His) SNV Conflicting interpretations of pathogenicity 342353 rs139255481 3:100972610-100972610 3:101253766-101253766 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.1223C>T (p.Thr408Met) SNV Conflicting interpretations of pathogenicity 342352 rs148056371 3:100972556-100972556 3:101253712-101253712 RTN008 Retinitis Pigmentosa ARL6 NM_001278293.3(ARL6):c.536-4T>C SNV Conflicting interpretations of pathogenicity 346943 rs201939836 3:97516864-97516864 3:97798020-97798020 RTN008 Retinitis Pigmentosa ARL6 NM_001278293.3(ARL6):c.*470G>A SNV Conflicting interpretations of pathogenicity 346948 rs184213166 3:97517363-97517363 3:97798519-97798519 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.480C>A (p.Thr160=) SNV Conflicting interpretations of pathogenicity 343277 rs151063543 3:129249837-129249837 3:129530994-129530994 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*2529C>T SNV Conflicting interpretations of pathogenicity 347877 rs185391295 4:155672817-155672817 4:154751665-154751665 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.2309C>A (p.Pro770His) SNV Conflicting interpretations of pathogenicity 347978 rs568361529 4:15985950-15985950 4:15984327-15984327 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.1898C>T (p.Ser633Leu) SNV Conflicting interpretations of pathogenicity 833673 1:216462695-216462695 1:216289353-216289353 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.1439T>C (p.Val480Ala) SNV Conflicting interpretations of pathogenicity 833899 1:216496927-216496927 1:216323585-216323585 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.103G>A (p.Gly35Arg) SNV Conflicting interpretations of pathogenicity 833922 2:29297025-29297025 2:29074159-29074159 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1024A>G (p.Lys342Glu) SNV Conflicting interpretations of pathogenicity 833526 16:57984295-57984295 16:57950391-57950391 RTN008 Retinitis Pigmentosa PDE6B NM_001145291.1(PDE6B):c.220C>T (p.Arg74Cys) SNV Conflicting interpretations of pathogenicity 838685 4:619635-619635 4:625846-625846 RTN008 Retinitis Pigmentosa PDE6B NM_001145291.1(PDE6B):c.1703C>T (p.Thr568Met) SNV Conflicting interpretations of pathogenicity 843645 4:656011-656011 4:662222-662222 RTN008 Retinitis Pigmentosa PDE6B NM_001145291.1(PDE6B):c.1996G>A (p.Ala666Thr) SNV Conflicting interpretations of pathogenicity 850184 4:657634-657634 4:663845-663845 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.454A>G (p.Met152Val) SNV Conflicting interpretations of pathogenicity 846922 6:42689619-42689619 6:42721881-42721881 RTN008 Retinitis Pigmentosa PDE6B NM_001145291.1(PDE6B):c.2193+5G>A SNV Conflicting interpretations of pathogenicity 841539 4:658738-658738 4:664949-664949 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.123G>A (p.Val41=) SNV Conflicting interpretations of pathogenicity 846374 15:72103827-72103827 15:71811487-71811487 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1152G>C (p.Arg384Ser) SNV Conflicting interpretations of pathogenicity 842166 4:16010721-16010721 4:16009098-16009098 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.712C>T (p.Pro238Ser) SNV Conflicting interpretations of pathogenicity 875440 1:156130722-156130722 1:156160931-156160931 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.994G>A (p.Gly332Arg) SNV Conflicting interpretations of pathogenicity 876464 1:156132745-156132745 1:156162954-156162954 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.1646G>A (p.Ser549Asn) SNV Conflicting interpretations of pathogenicity 874568 1:156145400-156145400 1:156175609-156175609 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.867G>A (p.Thr289=) SNV Conflicting interpretations of pathogenicity 876210 1:197316488-197316488 1:197347358-197347358 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.*334C>T SNV Conflicting interpretations of pathogenicity 876549 1:156147122-156147122 1:156177331-156177331 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.*102C>G SNV Conflicting interpretations of pathogenicity 875548 1:156146890-156146890 1:156177099-156177099 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.265C>T (p.Pro89Ser) SNV Conflicting interpretations of pathogenicity 876296 1:197297746-197297746 1:197328616-197328616 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.4627+641G>A SNV Conflicting interpretations of pathogenicity 875975 1:216347953-216347953 1:216174611-216174611 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg) SNV Conflicting interpretations of pathogenicity 812458 1:216420440-216420440 1:216247098-216247098 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.1380G>C (p.Lys460Asn) SNV Conflicting interpretations of pathogenicity 811132 8:55537822-55537822 8:54625262-54625262 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2958C>T (p.Asn986=) SNV Conflicting interpretations of pathogenicity 810950 16:57935274-57935274 16:57901370-57901370 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.302T>C (p.Ile101Thr) SNV Conflicting interpretations of pathogenicity 806246 1:156127862-156127862 1:156158071-156158071 RTN008 Retinitis Pigmentosa NRL NM_001354768.3(NRL):c.375C>G (p.His125Gln) SNV Conflicting interpretations of pathogenicity 807100 14:24551683-24551683 14:24082474-24082474 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.1129-14A>G SNV Conflicting interpretations of pathogenicity 811223 1:68897282-68897282 1:68431599-68431599 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.823-4A>G SNV Conflicting interpretations of pathogenicity 767114 6:35474060-35474060 6:35506283-35506283 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.19+7G>A SNV Conflicting interpretations of pathogenicity 766822 14:88852188-88852188 14:88385844-88385844 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.155+8G>A SNV Conflicting interpretations of pathogenicity 788871 8:96281255-96281255 8:95269027-95269027 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.349+7C>T SNV Conflicting interpretations of pathogenicity 787123 15:72104216-72104216 15:71811876-71811876 RTN008 Retinitis Pigmentosa RP9 NM_203288.2(RP9):c.632C>G (p.Ser211Cys) SNV Conflicting interpretations of pathogenicity 795939 7:33134880-33134880 7:33095268-33095268 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.5257T>C (p.Leu1753=) SNV Conflicting interpretations of pathogenicity 796036 8:55541699-55541699 8:54629139-54629139 RTN008 Retinitis Pigmentosa CA4 NM_000717.5(CA4):c.753A>T (p.Ala251=) SNV Conflicting interpretations of pathogenicity 794109 17:58236599-58236599 17:60159238-60159238 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.4627+48A>T SNV Conflicting interpretations of pathogenicity 876034 1:216348546-216348546 1:216175204-216175204 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.991C>T (p.Arg331Trp) SNV Conflicting interpretations of pathogenicity 878590 11:61727406-61727406 11:61959934-61959934 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.*45T>C SNV Conflicting interpretations of pathogenicity 878688 11:61731639-61731639 11:61964167-61964167 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.482-15C>T SNV Conflicting interpretations of pathogenicity 878549 11:61724301-61724301 11:61956829-61956829 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.-95C>T SNV Conflicting interpretations of pathogenicity 884672 14:88852068-88852068 14:88385724-88385724 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.*93G>A SNV Conflicting interpretations of pathogenicity 885017 14:89343847-89343847 14:88877503-88877503 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.348C>T (p.Asp116=) SNV Conflicting interpretations of pathogenicity 885314 15:72104208-72104208 15:71811868-71811868 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.*217A>C SNV Conflicting interpretations of pathogenicity 887403 15:89753299-89753299 15:89210068-89210068 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.105C>T (p.Gly35=) SNV Conflicting interpretations of pathogenicity 885500 15:89761832-89761832 15:89218601-89218601 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.603G>A (p.Gly201=) SNV Conflicting interpretations of pathogenicity 779846 6:35477526-35477526 6:35509749-35509749 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn) SNV Conflicting interpretations of pathogenicity 788995 6:66053934-66053934 6:65344041-65344041 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.2856T>C (p.Tyr952=) SNV Conflicting interpretations of pathogenicity 781940 10:48388022-48388022 10:47351340-47351340 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.102G>T (p.Thr34=) SNV Conflicting interpretations of pathogenicity 781951 2:182521632-182521632 2:181656905-181656905 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.31G>A (p.Glu11Lys) SNV Conflicting interpretations of pathogenicity 791237 2:234217866-234217866 2:233309220-233309220 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.1091C>T (p.Pro364Leu) SNV Conflicting interpretations of pathogenicity 791897 2:234250961-234250961 2:233342315-233342315 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.740T>C (p.Val247Ala) SNV Conflicting interpretations of pathogenicity 780344 2:29296388-29296388 2:29073522-29073522 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1751A>G (p.His584Arg) SNV Conflicting interpretations of pathogenicity 787025 4:15995626-15995626 4:15994003-15994003 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.765C>T (p.Ile255=) SNV Conflicting interpretations of pathogenicity 783448 5:149310684-149310684 5:149931121-149931121 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.1154C>T (p.Thr385Met) SNV Conflicting interpretations of pathogenicity 712719 1:68897243-68897243 1:68431560-68431560 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.441A>G (p.Thr147=) SNV Conflicting interpretations of pathogenicity 716567 1:68910268-68910268 1:68444585-68444585 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.231C>T (p.Asp77=) SNV Conflicting interpretations of pathogenicity 719407 2:234229325-234229325 2:233320679-233320679 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.374C>T (p.Thr125Met) SNV Conflicting interpretations of pathogenicity 720101 2:234229468-234229468 2:233320822-233320822 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.525A>G (p.Arg175=) SNV Conflicting interpretations of pathogenicity 718731 2:234237136-234237136 2:233328490-233328490 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.588G>A (p.Ala196=) SNV Conflicting interpretations of pathogenicity 712453 2:234237199-234237199 2:233328553-233328553 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2502T>C (p.Pro834=) SNV Conflicting interpretations of pathogenicity 714938 2:29294626-29294626 2:29071760-29071760 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.714A>G (p.Gly238=) SNV Conflicting interpretations of pathogenicity 717840 4:16025019-16025019 4:16023396-16023396 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.5577C>T (p.Pro1859=) SNV Conflicting interpretations of pathogenicity 721275 6:65300183-65300183 6:64590290-64590290 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2598C>T (p.Cys866=) SNV Conflicting interpretations of pathogenicity 710846 6:65622420-65622420 6:64912527-64912527 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.453T>A (p.Val151=) SNV Conflicting interpretations of pathogenicity 715731 6:66204851-66204851 6:65494958-65494958 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.1668C>T (p.Ile556=) SNV Conflicting interpretations of pathogenicity 711446 7:128034536-128034536 7:128394482-128394482 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3395A>C (p.Glu1132Ala) SNV Conflicting interpretations of pathogenicity 772843 2:29293733-29293733 2:29070867-29070867 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.771G>A (p.Thr257=) SNV Conflicting interpretations of pathogenicity 772987 6:35477037-35477037 6:35509260-35509260 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.930C>T (p.Thr310=) SNV Conflicting interpretations of pathogenicity 772300 7:128038612-128038612 7:128398558-128398558 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.189A>G (p.Ser63=) SNV Conflicting interpretations of pathogenicity 767199 7:128049496-128049496 7:128409442-128409442 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.33G>C (p.Gly11=) SNV Conflicting interpretations of pathogenicity 771281 17:6338392-6338392 17:6435072-6435072 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.161G>T (p.Cys54Phe) SNV Conflicting interpretations of pathogenicity 783191 1:197297642-197297642 1:197328512-197328512 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.2874C>T (p.Ser958=) SNV Conflicting interpretations of pathogenicity 783243 1:197403867-197403867 1:197434737-197434737 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.295G>A (p.Val99Ile) SNV Conflicting interpretations of pathogenicity 789504 1:68910517-68910517 1:68444834-68444834 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.986A>G (p.Asn329Ser) SNV Conflicting interpretations of pathogenicity 782804 2:112732891-112732891 2:111975314-111975314 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.2112C>T (p.Arg704=) SNV Conflicting interpretations of pathogenicity 684463 4:15989304-15989304 4:15987681-15987681 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.1142A>G (p.His381Arg) SNV Conflicting interpretations of pathogenicity 707014 7:128037009-128037009 7:128396955-128396955 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.20G>A (p.Gly7Asp) SNV Conflicting interpretations of pathogenicity 767708 1:156124389-156124389 1:156154598-156154598 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.1682G>A (p.Arg561His) SNV Conflicting interpretations of pathogenicity 767709 1:156145436-156145436 1:156175645-156175645 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.2976A>G (p.Ala992=) SNV Conflicting interpretations of pathogenicity 772023 1:197403969-197403969 1:197434839-197434839 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.942C>T (p.His314=) SNV Conflicting interpretations of pathogenicity 772581 1:68904681-68904681 1:68438998-68438998 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.102C>A (p.Ile34=) SNV Conflicting interpretations of pathogenicity 770050 1:68912536-68912536 1:68446853-68446853 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.420A>G (p.Pro140=) SNV Conflicting interpretations of pathogenicity 769594 2:234231636-234231636 2:233322990-233322990 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.1338+8A>G SNV Conflicting interpretations of pathogenicity 736442 1:68896957-68896957 1:68431274-68431274 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.95-10T>A SNV Conflicting interpretations of pathogenicity 749603 1:68912553-68912553 1:68446870-68446870 RTN008 Retinitis Pigmentosa CA4 NM_000717.5(CA4):c.58+10C>G SNV Conflicting interpretations of pathogenicity 736549 17:58227463-58227463 17:60150102-60150102 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.716C>T (p.Ala239Val) SNV Conflicting interpretations of pathogenicity 755637 6:66204588-66204588 6:65494695-65494695 RTN008 Retinitis Pigmentosa ROM1 NM_000327.3(ROM1):c.1035G>A (p.Lys345=) SNV Conflicting interpretations of pathogenicity 760828 11:62382290-62382290 11:62614818-62614818 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.645C>T (p.Cys215=) SNV Conflicting interpretations of pathogenicity 750859 15:72104749-72104749 15:71812409-71812409 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3626A>G (p.Asp1209Gly) SNV Conflicting interpretations of pathogenicity 739748 2:29293502-29293502 2:29070636-29070636 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.2238T>G (p.Gly746=) SNV Conflicting interpretations of pathogenicity 737024 5:149247324-149247324 5:149867761-149867761 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.6912G>A (p.Gly2304=) SNV Conflicting interpretations of pathogenicity 741821 6:64694419-64694419 6:63984526-63984526 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.141A>G (p.Gln47=) SNV Conflicting interpretations of pathogenicity 738055 8:55533667-55533667 8:54621107-54621107 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.4932A>G (p.Pro1644=) SNV Conflicting interpretations of pathogenicity 749571 8:55541374-55541374 8:54628814-54628814 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.1938A>C (p.Ser646=) SNV Conflicting interpretations of pathogenicity 748220 9:32542585-32542585 9:32542587-32542587 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.375A>G (p.Gly125=) SNV Conflicting interpretations of pathogenicity 755627 1:68910334-68910334 1:68444651-68444651 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.97T>G (p.Leu33Val) SNV Conflicting interpretations of pathogenicity 764355 2:182521637-182521637 2:181656910-181656910 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3527A>G (p.Gln1176Arg) SNV Conflicting interpretations of pathogenicity 752211 2:29293601-29293601 2:29070735-29070735 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1279T>C (p.Leu427=) SNV Conflicting interpretations of pathogenicity 757831 4:16010594-16010594 4:16008971-16008971 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.1779C>T (p.Ala593=) SNV Conflicting interpretations of pathogenicity 758782 4:656354-656354 4:662565-662565 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.6822C>A (p.Ser2274=) SNV Conflicting interpretations of pathogenicity 762632 6:64708980-64708980 6:63999087-63999087 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.5935T>C (p.Leu1979=) SNV Conflicting interpretations of pathogenicity 753386 6:65098726-65098726 6:64388833-64388833 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.5600C>T (p.Ser1867Phe) SNV Conflicting interpretations of pathogenicity 760696 6:65300160-65300160 6:64590267-64590267 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.817G>A (p.Glu273Lys) SNV Conflicting interpretations of pathogenicity 715903 2:62067322-62067322 2:61840187-61840187 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.57G>A (p.Pro19=) SNV Conflicting interpretations of pathogenicity 719794 14:88857762-88857762 14:88391418-88391418 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.861G>T (p.Leu287=) SNV Conflicting interpretations of pathogenicity 728541 1:156131187-156131187 1:156161396-156161396 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.1653C>A (p.Pro551=) SNV Conflicting interpretations of pathogenicity 727396 1:156145407-156145407 1:156175616-156175616 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.3780T>C (p.His1260=) SNV Conflicting interpretations of pathogenicity 729009 1:216373000-216373000 1:216199658-216199658 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.908C>T (p.Ser303Leu) SNV Conflicting interpretations of pathogenicity 729971 1:26795528-26795528 1:26469037-26469037 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.1488C>T (p.His496=) SNV Conflicting interpretations of pathogenicity 734584 2:27600550-27600550 2:27377683-27377683 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.878G>A (p.Arg293Gln) SNV Conflicting interpretations of pathogenicity 729108 2:27601160-27601160 2:27378293-27378293 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2617A>G (p.Thr873Ala) SNV Conflicting interpretations of pathogenicity 726021 2:29294511-29294511 2:29071645-29071645 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.1391A>G (p.His464Arg) SNV Conflicting interpretations of pathogenicity 731343 2:62066748-62066748 2:61839613-61839613 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.1044T>C (p.Tyr348=) SNV Conflicting interpretations of pathogenicity 728519 2:62067095-62067095 2:61839960-61839960 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.1893G>A (p.Pro631=) SNV Conflicting interpretations of pathogenicity 734894 3:100963282-100963282 3:101244438-101244438 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.21T>G (p.Phe7Leu) SNV Conflicting interpretations of pathogenicity 722319 3:101039196-101039196 3:101320352-101320352 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.1414C>T (p.Arg472Cys) SNV Conflicting interpretations of pathogenicity 721487 4:652753-652753 4:658964-658964 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.2526G>A (p.Pro842=) SNV Conflicting interpretations of pathogenicity 734314 5:149240515-149240515 5:149860952-149860952 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.316G>A (p.Ala106Thr) SNV Conflicting interpretations of pathogenicity 728663 5:149323921-149323921 5:149944358-149944358 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.102C>T (p.Ser34=) SNV Conflicting interpretations of pathogenicity 734900 5:149324135-149324135 5:149944572-149944572 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.6535A>G (p.Ile2179Val) SNV Conflicting interpretations of pathogenicity 731600 6:64791785-64791785 6:64081892-64081892 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.5629C>T (p.Arg1877Trp) SNV Conflicting interpretations of pathogenicity 724734 6:65300131-65300131 6:64590238-64590238 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.4264A>T (p.Thr1422Ser) SNV Conflicting interpretations of pathogenicity 724735 6:65301496-65301496 6:64591603-64591603 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.3586T>C (p.Cys1196Arg) SNV Conflicting interpretations of pathogenicity 723093 6:65327409-65327409 6:64617516-64617516 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1107C>T (p.Ser369=) SNV Conflicting interpretations of pathogenicity 725175 6:66112448-66112448 6:65402555-65402555 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.1662G>A (p.Gln554=) SNV Conflicting interpretations of pathogenicity 729916 7:128034542-128034542 7:128394488-128394488 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.120C>T (p.Cys40=) SNV Conflicting interpretations of pathogenicity 722675 10:48390758-48390758 10:47348604-47348604 RTN008 Retinitis Pigmentosa CA4 NM_000717.5(CA4):c.699C>T (p.Val233=) SNV Conflicting interpretations of pathogenicity 728481 17:58235762-58235762 17:60158401-60158401 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.2249A>T (p.Asp750Val) SNV Conflicting interpretations of pathogenicity 746667 1:156146751-156146751 1:156176960-156176960 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.783G>T (p.Leu261=) SNV Conflicting interpretations of pathogenicity 746140 1:68904949-68904949 1:68439266-68439266 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.540A>G (p.Lys180=) SNV Conflicting interpretations of pathogenicity 750313 2:182438553-182438553 2:181573826-181573826 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.2110C>T (p.Arg704Cys) SNV Conflicting interpretations of pathogenicity 636223 4:15989306-15989306 4:15987683-15987683 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.1598A>G (p.Gln533Arg) SNV Conflicting interpretations of pathogenicity 636175 7:128034606-128034606 7:128394552-128394552 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1911+8G>A SNV Conflicting interpretations of pathogenicity 636187 4:15993863-15993863 4:15992240-15992240 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter) SNV Conflicting interpretations of pathogenicity 555316 rs1187839124 2:182409489-182409489 2:181544762-181544762 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.1391G>A (p.Arg464His) SNV Conflicting interpretations of pathogenicity 636117 1:216496975-216496975 1:216323633-216323633 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.1574_1577TTCT[1] (p.Ser527fs) short repeat Conflicting interpretations of pathogenicity 631902 rs1559643320 3:100963594-100963597 3:101244750-101244753 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.1025C>T (p.Thr342Met) SNV Conflicting interpretations of pathogenicity 632397 rs183318466 3:129252539-129252539 3:129533696-129533696 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.2275-1G>A SNV Conflicting interpretations of pathogenicity 631962 rs1428612396 5:149245817-149245817 5:149866254-149866254 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.759G>T (p.Met253Ile) SNV Conflicting interpretations of pathogenicity 594435 rs756658659 3:129251438-129251438 3:129532595-129532595 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.933+4C>T SNV Conflicting interpretations of pathogenicity 593844 rs12109444 5:149301194-149301194 5:149921631-149921631 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.242G>T (p.Arg81Ile) SNV Conflicting interpretations of pathogenicity 559523 rs1429137932 1:68912396-68912396 1:68446713-68446713 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.1084_1085TG[1] (p.Cys362_Glu363delinsTer) short repeat Conflicting interpretations of pathogenicity 632335 rs776727320 2:182413318-182413319 2:181548591-181548592 RTN008 Retinitis Pigmentosa AHI1 NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter) SNV Conflicting interpretations of pathogenicity 624266 rs777215595 6:135715991-135715991 6:135394853-135394853 RTN008 Retinitis Pigmentosa POC5 NM_001099271.2(POC5):c.304_305del (p.Thr101_Asp102insTer) deletion Conflicting interpretations of pathogenicity 617629 rs1561480377 5:75001531-75001532 5:75705706-75705707 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.1618G>A (p.Glu540Lys) SNV Conflicting interpretations of pathogenicity 618714 rs113485015 2:112758791-112758791 2:112001214-112001214 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.3329C>G (p.Thr1110Ser) SNV Conflicting interpretations of pathogenicity 554662 rs143327210 6:65523385-65523385 6:64813492-64813492 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.7868G>A (p.Gly2623Glu) SNV Conflicting interpretations of pathogenicity 556919 rs559824825 6:64487929-64487929 6:63778036-63778036 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.1A>G (p.Met1Val) SNV Conflicting interpretations of pathogenicity 553979 rs924627806 1:216595678-216595678 1:216422336-216422336 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.8860T>C (p.Phe2954Leu) SNV Conflicting interpretations of pathogenicity 552326 rs79036642 6:64431067-64431067 6:63721171-63721171 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.481+2T>G SNV Conflicting interpretations of pathogenicity 523393 rs753994107 2:182468562-182468562 2:181603835-181603835 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.1255T>C (p.Leu419=) SNV Conflicting interpretations of pathogenicity 534952 rs112976233 14:88904221-88904221 14:88437877-88437877 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.7796A>G (p.His2599Arg) SNV Conflicting interpretations of pathogenicity 444686 rs74636274 6:64488001-64488001 6:63778108-63778108 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.1192G>A (p.Val398Ile) SNV Conflicting interpretations of pathogenicity 509105 rs144011428 1:197390150-197390150 1:197421020-197421020 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.126G>A (p.Pro42=) SNV Conflicting interpretations of pathogenicity 497463 rs146175391 10:48390752-48390752 10:47348610-47348610 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.3897C>G (p.Thr1299=) SNV Conflicting interpretations of pathogenicity 500139 rs144934076 2:96952155-96952155 2:96286417-96286417 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.838-4G>T SNV Conflicting interpretations of pathogenicity 493186 rs375539469 16:57991285-57991285 16:57957381-57957381 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.843C>T (p.Pro281=) SNV Conflicting interpretations of pathogenicity 498009 rs35186791 10:48390035-48390035 10:47349327-47349327 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.888C>T (p.Pro296=) SNV Conflicting interpretations of pathogenicity 498453 rs183714869 6:42666186-42666186 6:42698448-42698448 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2285G>A (p.Arg762His) SNV Conflicting interpretations of pathogenicity 437972 rs760373259 16:57949172-57949172 16:57915268-57915268 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.433A>G (p.Asn145Asp) SNV Conflicting interpretations of pathogenicity 438051 rs1182983579 7:23164782-23164782 7:23125163-23125163 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) SNV Conflicting interpretations of pathogenicity 438211 rs112822256 6:66115146-66115146 6:65405253-65405253 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.9882C>G (p.Cys3294Trp) SNV Conflicting interpretations of pathogenicity 438036 rs749228276 1:215972325-215972325 1:215798983-215798983 RTN008 Retinitis Pigmentosa BBS12 NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) deletion Conflicting interpretations of pathogenicity 434492 rs752762669 4:123664577-123664585 4:122743422-122743430 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg) SNV Conflicting interpretations of pathogenicity 437079 rs142938748 14:89338702-89338702 14:88872358-88872358 RTN008 Retinitis Pigmentosa MFSD8 NM_152778.3(MFSD8):c.1361T>C (p.Met454Thr) SNV Conflicting interpretations of pathogenicity 418295 rs559155109 4:128841981-128841981 4:127920826-127920826 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.2038A>G (p.Met680Val) SNV Conflicting interpretations of pathogenicity 422419 rs148598583 5:149263089-149263089 5:149883526-149883526 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2137+1G>A SNV Conflicting interpretations of pathogenicity 421249 rs199740930 6:65767506-65767506 6:65057613-65057613 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly) SNV Conflicting interpretations of pathogenicity 425384 rs188093810 6:65149147-65149147 6:64439254-64439254 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.14219C>A (p.Ala4740Asp) SNV Conflicting interpretations of pathogenicity 429215 rs539192853 1:215824058-215824058 1:215650716-215650716 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.460A>G (p.Thr154Ala) SNV Conflicting interpretations of pathogenicity 893436 19:48342784-48342784 19:47839527-47839527 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*16T>C SNV Conflicting interpretations of pathogenicity 893767 19:48343240-48343240 19:47839983-47839983 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*366C>T SNV Conflicting interpretations of pathogenicity 893798 19:48343590-48343590 19:47840333-47840333 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*1684G>A SNV Conflicting interpretations of pathogenicity 893631 19:48344908-48344908 19:47841651-47841651 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2040G>A SNV Conflicting interpretations of pathogenicity 892854 19:48345264-48345264 19:47842007-47842007 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.-69G>A SNV Conflicting interpretations of pathogenicity 896657 2:234216628-234216628 2:233307982-233307982 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*117T>A SNV Conflicting interpretations of pathogenicity 892703 19:48343341-48343341 19:47840084-47840084 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.62G>A (p.Arg21His) SNV Conflicting interpretations of pathogenicity 900392 3:129247638-129247638 3:129528795-129528795 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.948C>T (p.Cys316=) SNV Conflicting interpretations of pathogenicity 902170 3:129252462-129252462 3:129533619-129533619 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.744G>A (p.Lys248=) SNV Conflicting interpretations of pathogenicity 900512 3:129251423-129251423 3:129532580-129532580 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.2485G>A (p.Asp829Asn) SNV Conflicting interpretations of pathogenicity 903034 4:15982049-15982049 4:15980426-15980426 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1738A>C (p.Asn580His) SNV Conflicting interpretations of pathogenicity 899856 4:15995639-15995639 4:15994016-15994016 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1710C>T (p.Tyr570=) SNV Conflicting interpretations of pathogenicity 899857 4:15995667-15995667 4:15994044-15994044 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1468A>T (p.Ser490Cys) SNV Conflicting interpretations of pathogenicity 899918 4:16002229-16002229 4:16000606-16000606 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1407G>A (p.Pro469=) SNV Conflicting interpretations of pathogenicity 901090 4:16008208-16008208 4:16006585-16006585 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.2094C>A (p.Ser698Arg) SNV Conflicting interpretations of pathogenicity 900895 4:15989322-15989322 4:15987699-15987699 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1195C>T (p.Arg399Cys) SNV Conflicting interpretations of pathogenicity 903654 4:16010678-16010678 4:16009055-16009055 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.158G>A (p.Gly53Asp) SNV Conflicting interpretations of pathogenicity 900247 4:16077372-16077372 4:16075749-16075749 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.361+10G>A SNV Conflicting interpretations of pathogenicity 900454 3:129247947-129247947 3:129529104-129529104 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.376G>A (p.Val126Met) SNV Conflicting interpretations of pathogenicity 901350 4:16035060-16035060 4:16033437-16033437 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.2582+9A>C SNV Conflicting interpretations of pathogenicity 900422 4:15981009-15981009 4:15979386-15979386 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1301+11C>A SNV Conflicting interpretations of pathogenicity 899993 4:16010561-16010561 4:16008938-16008938 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1301+10T>A SNV Conflicting interpretations of pathogenicity 899994 4:16010562-16010562 4:16008939-16008939 RTN008 Retinitis Pigmentosa PDE6B NC_000004.12:g.625685G>A SNV Conflicting interpretations of pathogenicity 903660 4:619474-619474 4:625685-625685 RTN008 Retinitis Pigmentosa PDE6B NC_000004.12:g.625911C>T SNV Conflicting interpretations of pathogenicity 903743 4:619700-619700 4:625911-625911 RTN008 Retinitis Pigmentosa PDE6B NC_000004.12:g.625924C>T SNV Conflicting interpretations of pathogenicity 903745 4:619713-619713 4:625924-625924 RTN008 Retinitis Pigmentosa PDE6B NC_000004.12:g.625970C>T SNV Conflicting interpretations of pathogenicity 905660 4:619759-619759 4:625970-625970 RTN008 Retinitis Pigmentosa PDE6B NC_000004.12:g.654863G>A SNV Conflicting interpretations of pathogenicity 905523 4:648652-648652 4:654863-654863 RTN008 Retinitis Pigmentosa PDE6B NC_000004.12:g.660505C>T SNV Conflicting interpretations of pathogenicity 905591 4:654294-654294 4:660505-660505 RTN008 Retinitis Pigmentosa PDE6B NC_000004.12:g.662591G>A SNV Conflicting interpretations of pathogenicity 907107 4:656380-656380 4:662591-662591 RTN008 Retinitis Pigmentosa PDE6B NC_000004.12:g.667973A>G SNV Conflicting interpretations of pathogenicity 905723 4:661762-661762 4:667973-667973 RTN008 Retinitis Pigmentosa PDE6B NC_000004.12:g.670581C>G SNV Conflicting interpretations of pathogenicity 907297 4:664370-664370 4:670581-670581 RTN008 Retinitis Pigmentosa PDE6B NC_000004.12:g.666628G>A SNV Conflicting interpretations of pathogenicity 903825 4:660417-660417 4:666628-666628 RTN008 Retinitis Pigmentosa PDE6B NC_000004.12:g.667843C>T SNV Conflicting interpretations of pathogenicity 903826 4:661632-661632 4:667843-667843 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.157G>A (p.Glu53Lys) SNV Conflicting interpretations of pathogenicity 393046 rs141389059 2:182521577-182521577 2:181656850-181656850 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2864G>A (p.Arg955Gln) SNV Conflicting interpretations of pathogenicity 388495 rs184249075 2:29294264-29294264 2:29071398-29071398 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1199T>C (p.Leu400Pro) SNV Conflicting interpretations of pathogenicity 391392 rs140682455 4:16010674-16010674 4:16009051-16009051 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.1580T>C (p.Leu527Pro) SNV Conflicting interpretations of pathogenicity 378339 rs760766981 4:654368-654368 4:660579-660579 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.1054G>A (p.Ala352Thr) SNV Conflicting interpretations of pathogenicity 386501 rs147409760 11:61727469-61727469 11:61959997-61959997 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.1944C>T (p.Ala648=) SNV Conflicting interpretations of pathogenicity 339480 rs151332876 20:62657327-62657327 20:64025974-64025974 RTN008 Retinitis Pigmentosa CA4 NM_000717.5(CA4):c.415A>T (p.Met139Leu) SNV Conflicting interpretations of pathogenicity 324231 rs185658468 17:58235051-58235051 17:60157690-60157690 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.737A>C (p.Tyr246Ser) SNV Conflicting interpretations of pathogenicity 324614 rs138585919 17:6329982-6329982 17:6426662-6426662 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*6G>A SNV Conflicting interpretations of pathogenicity 329700 rs375770558 19:48343230-48343230 19:47839973-47839973 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*118C>A SNV Conflicting interpretations of pathogenicity 329702 rs543729483 19:48343342-48343342 19:47840085-47840085 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*767G>A SNV Conflicting interpretations of pathogenicity 329723 rs544037698 19:48343991-48343991 19:47840734-47840734 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2137G>A SNV Conflicting interpretations of pathogenicity 329755 rs181823708 19:48345361-48345361 19:47842104-47842104 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.796-7C>G SNV Conflicting interpretations of pathogenicity 317235 rs74029958 15:89753681-89753681 15:89210450-89210450 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.306A>C (p.Ala102=) SNV Conflicting interpretations of pathogenicity 317239 rs143817941 15:89760391-89760391 15:89217160-89217160 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.141+6G>A SNV Conflicting interpretations of pathogenicity 317243 rs181321141 15:89761790-89761790 15:89218559-89218559 RTN008 Retinitis Pigmentosa TTC8 NM_198309.3(TTC8):c.300-15T>A SNV Conflicting interpretations of pathogenicity 314799 rs187484893 14:89307366-89307366 14:88841022-88841022 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.349+8G>A SNV Conflicting interpretations of pathogenicity 317011 rs112520386 15:72104217-72104217 15:71811877-71811877 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.796-6C>T SNV Conflicting interpretations of pathogenicity 317234 rs201866933 15:89753680-89753680 15:89210449-89210449 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.-47A>G SNV Conflicting interpretations of pathogenicity 320116 rs186471030 16:58005002-58005002 16:57971098-57971098 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.3147C>T (p.His1049=) SNV Conflicting interpretations of pathogenicity 320066 rs200581517 16:57931396-57931396 16:57897492-57897492 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2853C>A (p.Asp951Glu) SNV Conflicting interpretations of pathogenicity 320070 rs7190978 16:57935471-57935471 16:57901567-57901567 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2700G>A (p.Thr900=) SNV Conflicting interpretations of pathogenicity 320073 rs72782250 16:57937820-57937820 16:57903916-57903916 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.28C>G (p.His10Asp) SNV Conflicting interpretations of pathogenicity 329693 rs139340178 19:48337728-48337728 19:47834471-47834471 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*996C>G SNV Conflicting interpretations of pathogenicity 329732 rs550939154 19:48344220-48344220 19:47840963-47840963 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*1917G>A SNV Conflicting interpretations of pathogenicity 329749 rs557773336 19:48345141-48345141 19:47841884-47841884 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2739G>A SNV Conflicting interpretations of pathogenicity 329770 rs149039830 19:48345963-48345963 19:47842706-47842706 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2880T>C SNV Conflicting interpretations of pathogenicity 329775 rs142202442 19:48346104-48346104 19:47842847-47842847 RTN008 Retinitis Pigmentosa GPR179 NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp) SNV Conflicting interpretations of pathogenicity 322975 rs200936863 17:36483477-36483477 17:38327594-38327594 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.207G>A (p.Ser69=) SNV Conflicting interpretations of pathogenicity 314777 rs142913613 14:88862516-88862516 14:88396172-88396172 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.264G>T (p.Gly88=) SNV Conflicting interpretations of pathogenicity 317007 rs558123422 15:72104124-72104124 15:71811784-71811784 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.1463C>T (p.Ala488Val) SNV Conflicting interpretations of pathogenicity 314804 rs199649536 14:89343669-89343669 14:88877325-88877325 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.900G>A (p.Thr300=) SNV Conflicting interpretations of pathogenicity 317020 rs184906734 15:72105881-72105881 15:71813541-71813541 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.*231A>G SNV Conflicting interpretations of pathogenicity 317024 rs185349250 15:72110256-72110256 15:71817915-71817915 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.*356G>A SNV Conflicting interpretations of pathogenicity 317225 rs190236976 15:89753160-89753160 15:89209929-89209929 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.924C>G (p.Pro308=) SNV Conflicting interpretations of pathogenicity 317231 rs144615495 15:89753546-89753546 15:89210315-89210315 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.795+15C>T SNV Conflicting interpretations of pathogenicity 317236 rs181863443 15:89753915-89753915 15:89210684-89210684 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.191G>A (p.Arg64Gln) SNV Conflicting interpretations of pathogenicity 317242 rs201865787 15:89760506-89760506 15:89217275-89217275 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.152+6G>T SNV Conflicting interpretations of pathogenicity 305118 rs764420497 11:61719436-61719436 11:61951964-61951964 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.412+8C>A SNV Conflicting interpretations of pathogenicity 320108 rs185727761 16:57996738-57996738 16:57962834-57962834 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.1519T>C (p.Ser507Pro) SNV Conflicting interpretations of pathogenicity 305130 rs141071579 11:61730145-61730145 11:61962673-61962673 RTN008 Retinitis Pigmentosa FTH1 NM_004183.4(BEST1):c.1519T>C (p.Ser507Pro) SNV Conflicting interpretations of pathogenicity 305130 rs141071579 11:61730145-61730145 11:61962673-61962673 RTN008 Retinitis Pigmentosa BEST1 NM_002032.3(FTH1):c.*389A>G SNV Conflicting interpretations of pathogenicity 305135 rs1801327 11:61731810-61731810 11:61964338-61964338 RTN008 Retinitis Pigmentosa FTH1 NM_002032.3(FTH1):c.*389A>G SNV Conflicting interpretations of pathogenicity 305135 rs1801327 11:61731810-61731810 11:61964338-61964338 RTN008 Retinitis Pigmentosa ROM1 NM_000327.3(ROM1):c.593G>A (p.Arg198Gln) SNV Conflicting interpretations of pathogenicity 305165 rs141629524 11:62381732-62381732 11:62614260-62614260 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.2680-9G>A SNV Conflicting interpretations of pathogenicity 321900 rs886052614 17:1579115-1579115 17:1675821-1675821 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.*24C>T SNV Conflicting interpretations of pathogenicity 305132 rs142482048 11:61731618-61731618 11:61964146-61964146 RTN008 Retinitis Pigmentosa FTH1 NM_004183.4(BEST1):c.*24C>T SNV Conflicting interpretations of pathogenicity 305132 rs142482048 11:61731618-61731618 11:61964146-61964146 RTN008 Retinitis Pigmentosa BEST1 NM_002032.3(FTH1):c.*396A>G SNV Conflicting interpretations of pathogenicity 305134 rs565138844 11:61731803-61731803 11:61964331-61964331 RTN008 Retinitis Pigmentosa FTH1 NM_002032.3(FTH1):c.*396A>G SNV Conflicting interpretations of pathogenicity 305134 rs565138844 11:61731803-61731803 11:61964331-61964331 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.659-12T>C SNV Conflicting interpretations of pathogenicity 313840 rs77686476 14:68195896-68195896 14:67729179-67729179 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.662C>T (p.Thr221Ile) SNV Conflicting interpretations of pathogenicity 313841 rs769317754 14:68195911-68195911 14:67729194-67729194 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.387G>A (p.Pro129=) SNV Conflicting interpretations of pathogenicity 314781 rs199727517 14:88892590-88892590 14:88426246-88426246 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.245+9G>A SNV Conflicting interpretations of pathogenicity 317006 rs538864090 15:72103958-72103958 15:71811618-71811618 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.807C>T (p.His269=) SNV Conflicting interpretations of pathogenicity 317233 rs62640017 15:89753663-89753663 15:89210432-89210432 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*595C>T SNV Conflicting interpretations of pathogenicity 329715 rs111448395 19:48343819-48343819 19:47840562-47840562 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2039C>T SNV Conflicting interpretations of pathogenicity 329752 rs189556251 19:48345263-48345263 19:47842006-47842006 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2539C>T SNV Conflicting interpretations of pathogenicity 329764 rs146417527 19:48345763-48345763 19:47842506-47842506 RTN008 Retinitis Pigmentosa CEP290 NM_025114.4(CEP290):c.503G>A (p.Arg168His) SNV Conflicting interpretations of pathogenicity 310628 rs200063017 12:88524335-88524335 12:88130558-88130558 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.*83A>G SNV Conflicting interpretations of pathogenicity 314806 rs147325843 14:89343837-89343837 14:88877493-88877493 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.*54G>C SNV Conflicting interpretations of pathogenicity 313845 rs535737403 14:68200619-68200619 14:67733902-67733902 RTN008 Retinitis Pigmentosa CA4 NM_000717.5(CA4):c.258C>T (p.Asn86=) SNV Conflicting interpretations of pathogenicity 324229 rs185476073 17:58234066-58234066 17:60156705-60156705 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.57G>T (p.Pro19=) SNV Conflicting interpretations of pathogenicity 314775 rs367830780 14:88857762-88857762 14:88391418-88391418 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.9237A>G (p.Leu3079=) SNV Conflicting interpretations of pathogenicity 357685 rs139944387 6:64430690-64430690 6:63720794-63720794 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.7737T>C (p.Thr2579=) SNV Conflicting interpretations of pathogenicity 357689 rs191846522 6:64488060-64488060 6:63778167-63778167 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.5140A>C (p.Thr1714Pro) SNV Conflicting interpretations of pathogenicity 357706 rs201916371 6:65300620-65300620 6:64590727-64590727 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2039T>C (p.Ile680Thr) SNV Conflicting interpretations of pathogenicity 357732 rs376807770 6:65767605-65767605 6:65057712-65057712 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.91G>A (p.Glu31Lys) SNV Conflicting interpretations of pathogenicity 357750 rs572189652 6:66205213-66205213 6:65495320-65495320 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1899A>G (p.Gln633=) SNV Conflicting interpretations of pathogenicity 357739 rs373197894 6:66005880-66005880 6:65295987-65295987 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.544A>G (p.Arg182Gly) SNV Conflicting interpretations of pathogenicity 356470 rs142641513 6:35477661-35477661 6:35509884-35509884 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*1565G>A SNV Conflicting interpretations of pathogenicity 356745 rs41273818 6:42664468-42664468 6:42696730-42696730 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*20C>T SNV Conflicting interpretations of pathogenicity 356775 rs180775924 6:42666013-42666013 6:42698275-42698275 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.312C>T (p.Ile104=) SNV Conflicting interpretations of pathogenicity 356778 rs200009675 6:42689761-42689761 6:42722023-42722023 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.4554A>C (p.Thr1518=) SNV Conflicting interpretations of pathogenicity 357711 rs772339340 6:65301206-65301206 6:64591313-64591313 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1145A>T (p.Asn382Ile) SNV Conflicting interpretations of pathogenicity 357744 rs144935927 6:66112410-66112410 6:65402517-65402517 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1184+14T>C SNV Conflicting interpretations of pathogenicity 357743 rs182780299 6:66112357-66112357 6:65402464-65402464 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2992+9A>G SNV Conflicting interpretations of pathogenicity 357720 rs886061680 6:65596581-65596581 6:64886688-64886688 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2975G>T (p.Cys992Phe) SNV Conflicting interpretations of pathogenicity 357721 rs566917467 6:65596607-65596607 6:64886714-64886714 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.-337T>A SNV Conflicting interpretations of pathogenicity 357756 rs145321084 6:66349675-66349675 6:65639782-65639782 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.-459C>T SNV Conflicting interpretations of pathogenicity 357760 rs144371265 6:66417039-66417039 6:65707146-65707146 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.334G>C (p.Val112Leu) SNV Conflicting interpretations of pathogenicity 357748 rs112609906 6:66204970-66204970 6:65495077-65495077 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2641+8C>A SNV Conflicting interpretations of pathogenicity 357726 rs886061683 6:65622369-65622369 6:64912476-64912476 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1950G>A (p.Ala650=) SNV Conflicting interpretations of pathogenicity 357738 rs565864295 6:66005829-66005829 6:65295936-65295936 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.*223C>G SNV Conflicting interpretations of pathogenicity 358868 rs543042380 7:128032838-128032838 7:128392784-128392784 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.927C>T (p.Ala309=) SNV Conflicting interpretations of pathogenicity 299993 rs75452094 10:48389951-48389951 10:47349411-47349411 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1044C>T (p.Pro348=) SNV Conflicting interpretations of pathogenicity 299991 rs547601457 10:48389834-48389834 10:47349528-47349528 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1083G>C (p.Thr361=) SNV Conflicting interpretations of pathogenicity 299990 rs146487673 10:48389795-48389795 10:47349567-47349567 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1776C>G (p.Thr592=) SNV Conflicting interpretations of pathogenicity 299978 rs139452142 10:48389102-48389102 10:47350260-47350260 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.2416C>T (p.Arg806Cys) SNV Conflicting interpretations of pathogenicity 299965 rs35238500 10:48388462-48388462 10:47350900-47350900 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.2619C>T (p.Ala873=) SNV Conflicting interpretations of pathogenicity 299960 rs146045906 10:48388259-48388259 10:47351103-47351103 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.1064G>A (p.Arg355His) SNV Conflicting interpretations of pathogenicity 305124 rs368356148 11:61727479-61727479 11:61960007-61960007 RTN008 Retinitis Pigmentosa FTH1 NM_004183.4(BEST1):c.1064G>A (p.Arg355His) SNV Conflicting interpretations of pathogenicity 305124 rs368356148 11:61727479-61727479 11:61960007-61960007 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.1070C>T (p.Ala357Val) SNV Conflicting interpretations of pathogenicity 305125 rs17854138 11:61727485-61727485 11:61960013-61960013 RTN008 Retinitis Pigmentosa FTH1 NM_004183.4(BEST1):c.1070C>T (p.Ala357Val) SNV Conflicting interpretations of pathogenicity 305125 rs17854138 11:61727485-61727485 11:61960013-61960013 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.1143C>T (p.Asp381=) SNV Conflicting interpretations of pathogenicity 305126 rs112199774 11:61729769-61729769 11:61962297-61962297 RTN008 Retinitis Pigmentosa FTH1 NM_004183.4(BEST1):c.1143C>T (p.Asp381=) SNV Conflicting interpretations of pathogenicity 305126 rs112199774 11:61729769-61729769 11:61962297-61962297 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.4563C>T (p.Asn1521=) SNV Conflicting interpretations of pathogenicity 363299 rs150524359 8:55541005-55541005 8:54628445-54628445 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.3036G>C (p.Leu1012=) SNV Conflicting interpretations of pathogenicity 363289 rs373971446 8:55539478-55539478 8:54626918-54626918 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.450G>A (p.Ser150=) SNV Conflicting interpretations of pathogenicity 364000 rs35141355 8:96264436-96264436 8:95252208-95252208 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1809C>T (p.Gly603=) SNV Conflicting interpretations of pathogenicity 299976 rs34044042 10:48389069-48389069 10:47350293-47350293 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.3381G>A (p.Gln1127=) SNV Conflicting interpretations of pathogenicity 299953 rs113381589 10:48383851-48383851 10:47355511-47355511 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*2330C>T SNV Conflicting interpretations of pathogenicity 363983 rs150859301 8:96257515-96257515 8:95245287-95245287 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.528A>G (p.Thr176=) SNV Conflicting interpretations of pathogenicity 363999 rs143748636 8:96259941-96259941 8:95247713-95247713 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.570C>T (p.Ser190=) SNV Conflicting interpretations of pathogenicity 313839 rs79869437 14:68193819-68193819 14:67727102-67727102 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.954C>G (p.Ser318=) SNV Conflicting interpretations of pathogenicity 305123 rs144231113 11:61727369-61727369 11:61959897-61959897 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1933C>T (p.His645Tyr) SNV Conflicting interpretations of pathogenicity 299973 rs138305522 10:48388945-48388945 10:47350417-47350417 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.731G>A (p.Arg244Gln) SNV Conflicting interpretations of pathogenicity 348001 rs369815021 4:16025002-16025002 4:16023379-16023379 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.1083C>T (p.Ser361=) SNV Conflicting interpretations of pathogenicity 349371 rs142802752 4:650057-650057 4:656268-656268 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.1297G>A (p.Asp433Asn) SNV Conflicting interpretations of pathogenicity 349375 rs539768252 4:651179-651179 4:657390-657390 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.1590C>T (p.Val530=) SNV Conflicting interpretations of pathogenicity 349380 rs202244041 4:654378-654378 4:660589-660589 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.2326G>A (p.Asp776Asn) SNV Conflicting interpretations of pathogenicity 349392 rs141563823 4:660377-660377 4:666588-666588 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1491G>T (p.Leu497Phe) SNV Conflicting interpretations of pathogenicity 347991 rs200520976 4:16002206-16002206 4:16000583-16000583 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.*1052G>A SNV Conflicting interpretations of pathogenicity 347965 rs577484119 4:15969964-15969964 4:15968341-15968341 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.*684C>T SNV Conflicting interpretations of pathogenicity 347967 rs140362696 4:15970332-15970332 4:15968709-15968709 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.2284A>G (p.Ser762Gly) SNV Conflicting interpretations of pathogenicity 347979 rs202029748 4:15985975-15985975 4:15984352-15984352 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1377C>T (p.Gly459=) SNV Conflicting interpretations of pathogenicity 347992 rs779072238 4:16008238-16008238 4:16006615-16006615 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.495T>C (p.Tyr165=) SNV Conflicting interpretations of pathogenicity 348843 rs201341924 4:47944120-47944120 4:47942103-47942103 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.133G>A (p.Asp45Asn) SNV Conflicting interpretations of pathogenicity 349288 rs138423108 4:619548-619548 4:625759-625759 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.204G>C (p.Glu68Asp) SNV Conflicting interpretations of pathogenicity 349290 rs200079698 4:619619-619619 4:625830-625830 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.496G>A (p.Glu166Lys) SNV Conflicting interpretations of pathogenicity 349310 rs115775983 4:628493-628493 4:634704-634704 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.270C>T (p.Asp90=) SNV Conflicting interpretations of pathogenicity 349292 rs80344633 4:619685-619685 4:625896-625896 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.966C>T (p.His322=) SNV Conflicting interpretations of pathogenicity 349368 rs143711050 4:648651-648651 4:654862-654862 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.1218C>T (p.Asp406=) SNV Conflicting interpretations of pathogenicity 349373 rs148190219 4:650773-650773 4:656984-656984 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.1296C>T (p.Thr432=) SNV Conflicting interpretations of pathogenicity 349374 rs114100439 4:651178-651178 4:657389-657389 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.1401+5G>A SNV Conflicting interpretations of pathogenicity 349376 rs201623488 4:651288-651288 4:657499-657499 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.1635C>T (p.Phe545=) SNV Conflicting interpretations of pathogenicity 349382 rs141813304 4:655943-655943 4:662154-662154 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.2098T>A (p.Ser700Thr) SNV Conflicting interpretations of pathogenicity 349386 rs149880099 4:657979-657979 4:664190-664190 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.2548A>G (p.Thr850Ala) SNV Conflicting interpretations of pathogenicity 349399 rs141647790 4:663879-663879 4:670090-670090 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.*79A>G SNV Conflicting interpretations of pathogenicity 349403 rs753277194 4:663975-663975 4:670186-670186 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1936A>G (p.Ile646Val) SNV Conflicting interpretations of pathogenicity 351985 rs147047715 5:149264133-149264133 5:149884570-149884570 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1614A>G (p.Pro538=) SNV Conflicting interpretations of pathogenicity 351988 rs139697733 5:149275925-149275925 5:149896362-149896362 RTN008 Retinitis Pigmentosa ARL6 NM_001278293.3(ARL6):c.-27-1461A>T SNV Conflicting interpretations of pathogenicity 346941 rs143739859 3:97485464-97485464 3:97766620-97766620 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*98C>T SNV Conflicting interpretations of pathogenicity 347852 rs529360609 4:155670386-155670386 4:154749234-154749234 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.2211+7C>T SNV Conflicting interpretations of pathogenicity 347981 rs372262346 4:15987573-15987573 4:15985950-15985950 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1683-3C>T SNV Conflicting interpretations of pathogenicity 347987 rs143470288 4:15995697-15995697 4:15994074-15994074 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1579-6T>C SNV Conflicting interpretations of pathogenicity 347988 rs181261277 4:16000117-16000117 4:15998494-15998494 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.843C>T (p.His281=) SNV Conflicting interpretations of pathogenicity 347998 rs374394451 4:16020105-16020105 4:16018482-16018482 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.2578A>G (p.Thr860Ala) SNV Conflicting interpretations of pathogenicity 347971 rs747844753 4:15981022-15981022 4:15979399-15979399 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.2364C>T (p.Ile788=) SNV Conflicting interpretations of pathogenicity 347977 rs551849678 4:15985895-15985895 4:15984272-15984272 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1911+14G>A SNV Conflicting interpretations of pathogenicity 347984 rs79077926 4:15993857-15993857 4:15992234-15992234 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp) SNV Conflicting interpretations of pathogenicity 347990 rs201870277 4:16002121-16002121 4:16000498-16000498 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.181A>G (p.Ile61Val) SNV Conflicting interpretations of pathogenicity 348009 rs201701647 4:16077349-16077349 4:16075726-16075726 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.963G>T (p.Leu321Phe) SNV Conflicting interpretations of pathogenicity 347997 rs202041422 4:16019985-16019985 4:16018362-16018362 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.276+15G>T SNV Conflicting interpretations of pathogenicity 348008 rs766012920 4:16040554-16040554 4:16038931-16038931 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.-25T>A SNV Conflicting interpretations of pathogenicity 348012 rs149845694 4:16077554-16077554 4:16075931-16075931 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.2568C>T (p.Ser856=) SNV Conflicting interpretations of pathogenicity 351979 rs147000954 5:149240473-149240473 5:149860910-149860910 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.717C>T (p.Gly239=) SNV Conflicting interpretations of pathogenicity 348003 rs763697898 4:16025016-16025016 4:16023393-16023393 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.678G>A (p.Ala226=) SNV Conflicting interpretations of pathogenicity 348004 rs187116049 4:16025934-16025934 4:16024311-16024311 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.1419A>G (p.Thr473=) SNV Conflicting interpretations of pathogenicity 348839 rs201553765 4:47939092-47939092 4:47937075-47937075 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.170C>T (p.Thr57Met) SNV Conflicting interpretations of pathogenicity 349289 rs149359860 4:619585-619585 4:625796-625796 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.482G>A (p.Ser161Asn) SNV Conflicting interpretations of pathogenicity 349308 rs574098823 4:628479-628479 4:634690-634690 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.682C>A (p.Leu228Ile) SNV Conflicting interpretations of pathogenicity 349312 rs201584824 4:629729-629729 4:635940-635940 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.699G>A (p.Thr233=) SNV Conflicting interpretations of pathogenicity 349314 rs148264146 4:629746-629746 4:635957-635957 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.1108-9C>T SNV Conflicting interpretations of pathogenicity 349372 rs200970775 4:650654-650654 4:656865-656865 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.1945A>G (p.Asn649Asp) SNV Conflicting interpretations of pathogenicity 349383 rs768939011 4:657583-657583 4:663794-663794 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.2269-11C>T SNV Conflicting interpretations of pathogenicity 349389 rs370169775 4:660309-660309 4:666520-666520 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.2293G>C (p.Ala765Pro) SNV Conflicting interpretations of pathogenicity 349391 rs199521106 4:660344-660344 4:666555-666555 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.2352+3G>A SNV Conflicting interpretations of pathogenicity 349394 rs111504036 4:660406-660406 4:666617-666617 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.852+12G>A SNV Conflicting interpretations of pathogenicity 349364 rs201676629 4:647793-647793 4:654004-654004 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.1060-13G>A SNV Conflicting interpretations of pathogenicity 349370 rs147482093 4:650021-650021 4:656232-656232 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.2352+13C>T SNV Conflicting interpretations of pathogenicity 349395 rs374527841 4:660416-660416 4:666627-666627 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.2526C>T (p.Gly842=) SNV Conflicting interpretations of pathogenicity 349398 rs61733857 4:663857-663857 4:670068-670068 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.*764G>A SNV Conflicting interpretations of pathogenicity 349416 rs575639886 4:664660-664660 4:670871-670871 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.3345A>G (p.Glu1115=) SNV Conflicting interpretations of pathogenicity 357719 rs114282214 6:65523369-65523369 6:64813476-64813476 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2613C>T (p.Asp871=) SNV Conflicting interpretations of pathogenicity 357727 rs192059823 6:65622405-65622405 6:64912512-64912512 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2562C>T (p.Asp854=) SNV Conflicting interpretations of pathogenicity 357728 rs188011013 6:65622456-65622456 6:64912563-64912563 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.4440A>G (p.Arg1480=) SNV Conflicting interpretations of pathogenicity 357712 rs886061675 6:65301320-65301320 6:64591427-64591427 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.281C>A (p.Pro94Gln) SNV Conflicting interpretations of pathogenicity 357749 rs111947397 6:66205023-66205023 6:65495130-65495130 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.1338C>T (p.Ile446=) SNV Conflicting interpretations of pathogenicity 358875 rs199623010 7:128035252-128035252 7:128395198-128395198 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.769A>G (p.Thr257Ala) SNV Conflicting interpretations of pathogenicity 358878 rs144659635 7:128040404-128040404 7:128400350-128400350 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1954C>T (p.Arg652Cys) SNV Conflicting interpretations of pathogenicity 351983 rs199748187 5:149264115-149264115 5:149884552-149884552 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1952A>G (p.Asn651Ser) SNV Conflicting interpretations of pathogenicity 351984 rs149380104 5:149264117-149264117 5:149884554-149884554 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.498G>A (p.Val166=) SNV Conflicting interpretations of pathogenicity 351999 rs138274547 5:149314258-149314258 5:149934695-149934695 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.249G>A (p.Ala83=) SNV Conflicting interpretations of pathogenicity 356474 rs377105125 6:35479525-35479525 6:35511748-35511748 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*1687C>T SNV Conflicting interpretations of pathogenicity 356743 rs139177846 6:42664346-42664346 6:42696608-42696608 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*797G>A SNV Conflicting interpretations of pathogenicity 356761 rs188694434 6:42665236-42665236 6:42697498-42697498 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.1008C>T (p.Gly336=) SNV Conflicting interpretations of pathogenicity 356776 rs752365478 6:42666066-42666066 6:42698328-42698328 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.252C>T (p.Asp84=) SNV Conflicting interpretations of pathogenicity 356779 rs139936445 6:42689821-42689821 6:42722083-42722083 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1982T>C (p.Leu661Ser) SNV Uncertain significance 347982 rs372632641 4:15992846-15992846 4:15991223-15991223 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*2625A>G SNV Uncertain significance 347878 rs77071498 4:155672913-155672913 4:154751761-154751761 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*3712G>C SNV Uncertain significance 347887 rs144961748 4:155674000-155674000 4:154752848-154752848 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*3958G>A SNV Uncertain significance 347891 rs886059179 4:155674246-155674246 4:154753094-154753094 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.*1070A>G SNV Uncertain significance 347964 rs886059195 4:15969946-15969946 4:15968323-15968323 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*40C>T SNV Uncertain significance 343284 rs886057968 3:129252601-129252601 3:129533758-129533758 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.*551A>T SNV Uncertain significance 347969 rs886059197 4:15970465-15970465 4:15968842-15968842 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*1255T>C SNV Uncertain significance 343309 rs774496991 3:129253816-129253816 3:129534973-129534973 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.258G>A (p.Gly86=) SNV Uncertain significance 347850 rs768389044 4:155665736-155665736 4:154744584-154744584 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.403G>T (p.Ala135Ser) SNV Uncertain significance 347851 rs139819099 4:155665881-155665881 4:154744729-154744729 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*329T>C SNV Uncertain significance 347856 rs886059164 4:155670617-155670617 4:154749465-154749465 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*1281C>A SNV Uncertain significance 347864 rs572110901 4:155671569-155671569 4:154750417-154750417 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.205C>T (p.Arg69Cys) SNV Uncertain significance 347848 rs775838916 4:155665683-155665683 4:154744531-154744531 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*1585T>G SNV Uncertain significance 347866 rs886059168 4:155671873-155671873 4:154750721-154750721 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*2190C>T SNV Uncertain significance 347868 rs886059169 4:155672478-155672478 4:154751326-154751326 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*2310A>T SNV Uncertain significance 347870 rs368622887 4:155672598-155672598 4:154751446-154751446 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.696+12G>A SNV Uncertain significance 343281 rs55915536 3:129251271-129251271 3:129532428-129532428 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*426G>A SNV Uncertain significance 342322 rs151199078 3:100945387-100945387 3:101226543-101226543 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.2847A>G (p.Leu949=) SNV Uncertain significance 342340 rs371471872 3:100961707-100961707 3:101242863-101242863 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.2803-14T>G SNV Uncertain significance 342341 rs376452358 3:100961765-100961765 3:101242921-101242921 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.-44A>G SNV Uncertain significance 342361 rs781694232 3:101039260-101039260 3:101320416-101320416 RTN008 Retinitis Pigmentosa ARL6 NM_001278293.3(ARL6):c.-137A>C SNV Uncertain significance 346939 rs192372191 3:97483712-97483712 3:97764868-97764868 RTN008 Retinitis Pigmentosa ARL6 NM_001278293.3(ARL6):c.-71C>G SNV Uncertain significance 346940 rs777066573 3:97483778-97483778 3:97764934-97764934 RTN008 Retinitis Pigmentosa ARL6 NM_001278293.3(ARL6):c.526T>C (p.Trp176Arg) SNV Uncertain significance 346942 rs886058938 3:97510661-97510661 3:97791817-97791817 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*1598C>T SNV Uncertain significance 342300 rs886057673 3:100944215-100944215 3:101225371-101225371 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*810C>T SNV Uncertain significance 342310 rs536881753 3:100945003-100945003 3:101226159-101226159 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*3514C>T SNV Uncertain significance 342283 rs187040403 3:100942299-100942299 3:101223455-101223455 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*2622A>G SNV Uncertain significance 342291 rs768294566 3:100943191-100943191 3:101224347-101224347 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*2612T>A SNV Uncertain significance 342292 rs886057671 3:100943201-100943201 3:101224357-101224357 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*2332T>C SNV Uncertain significance 342295 rs144532789 3:100943481-100943481 3:101224637-101224637 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*388A>G SNV Uncertain significance 342323 rs114271586 3:100945425-100945425 3:101226581-101226581 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*372A>C SNV Uncertain significance 342325 rs764107922 3:100945441-100945441 3:101226597-101226597 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*371G>A SNV Uncertain significance 342326 rs191595733 3:100945442-100945442 3:101226598-101226598 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.3400A>G (p.Ser1134Gly) SNV Uncertain significance 342336 rs765312212 3:100949823-100949823 3:101230979-101230979 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.3355A>G (p.Ile1119Val) SNV Uncertain significance 342338 rs886057686 3:100949868-100949868 3:101231024-101231024 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.3142C>T (p.Arg1048Trp) SNV Uncertain significance 342339 rs770293441 3:100951716-100951716 3:101232872-101232872 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.2531G>A (p.Arg844Gln) SNV Uncertain significance 342344 rs139105788 3:100962644-100962644 3:101243800-101243800 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.2093C>T (p.Ala698Val) SNV Uncertain significance 342346 rs767082811 3:100963082-100963082 3:101244238-101244238 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.*61T>C SNV Uncertain significance 337522 rs571136350 2:96940689-96940689 2:96274951-96274951 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.3258+12G>A SNV Uncertain significance 337549 rs886056461 2:96954389-96954389 2:96288651-96288651 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.390T>C (p.Asp130=) SNV Uncertain significance 337566 rs138291954 2:96967446-96967446 2:96301708-96301708 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*3599A>G SNV Uncertain significance 342282 rs886057668 3:100942214-100942214 3:101223370-101223370 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.*337G>A SNV Uncertain significance 337516 rs886056454 2:96940413-96940413 2:96274675-96274675 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.*333G>A SNV Uncertain significance 337517 rs886056455 2:96940417-96940417 2:96274679-96274679 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.631-4A>T SNV Uncertain significance 337564 rs886056467 2:96965169-96965169 2:96299431-96299431 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.*1129A>C SNV Uncertain significance 336718 rs76144251 2:62052461-62052461 2:61825326-61825326 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.*752A>G SNV Uncertain significance 336724 rs886056217 2:62052838-62052838 2:61825703-61825703 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.161T>A (p.Val54Glu) SNV Uncertain significance 336745 rs755697413 2:62081016-62081016 2:61853881-61853881 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.*209T>C SNV Uncertain significance 337520 rs886056456 2:96940541-96940541 2:96274803-96274803 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.6025C>T (p.Arg2009Cys) SNV Uncertain significance 337527 rs745836206 2:96942886-96942886 2:96277148-96277148 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.4029C>T (p.Asp1343=) SNV Uncertain significance 337545 rs145242546 2:96951053-96951053 2:96285315-96285315 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.2665A>G (p.Ile889Val) SNV Uncertain significance 337551 rs140087655 2:96956141-96956141 2:96290403-96290403 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.2542G>A (p.Asp848Asn) SNV Uncertain significance 337552 rs757811344 2:96956433-96956433 2:96290695-96290695 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.2268A>G (p.Ser756=) SNV Uncertain significance 337554 rs370694903 2:96957531-96957531 2:96291793-96291793 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.1148G>A (p.Arg383His) SNV Uncertain significance 337558 rs536493402 2:96963430-96963430 2:96297692-96297692 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.1098C>T (p.Thr366=) SNV Uncertain significance 337559 rs774935614 2:96964043-96964043 2:96298305-96298305 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.916C>T (p.Arg306Trp) SNV Uncertain significance 336740 rs183615774 2:62067223-62067223 2:61840088-61840088 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.1971T>G (p.Asn657Lys) SNV Uncertain significance 336735 rs867264184 2:62054274-62054274 2:61827139-61827139 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.1841G>A (p.Arg614Lys) SNV Uncertain significance 336736 rs886056218 2:62063155-62063155 2:61836020-61836020 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.1408G>C (p.Glu470Gln) SNV Uncertain significance 336737 rs554664966 2:62066731-62066731 2:61839596-61839596 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.*1549G>T SNV Uncertain significance 336709 rs7563900 2:62052041-62052041 2:61824906-61824906 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.*1507G>C SNV Uncertain significance 336710 rs886056213 2:62052083-62052083 2:61824948-61824948 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.*1345G>A SNV Uncertain significance 336713 rs765343041 2:62052245-62052245 2:61825110-61825110 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*645G>C SNV Uncertain significance 343297 rs886057973 3:129253206-129253206 3:129534363-129534363 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*838A>T SNV Uncertain significance 343300 rs886057974 3:129253399-129253399 3:129534556-129534556 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.*1368A>C SNV Uncertain significance 336711 rs148352743 2:62052222-62052222 2:61825087-61825087 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.*1136G>T SNV Uncertain significance 336717 rs191936453 2:62052454-62052454 2:61825319-61825319 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.*802A>G SNV Uncertain significance 336722 rs541819550 2:62052788-62052788 2:61825653-61825653 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.1471G>A (p.Glu491Lys) SNV Uncertain significance 335661 rs528670230 2:29295657-29295657 2:29072791-29072791 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*3050C>T SNV Uncertain significance 335570 rs188267834 2:29284685-29284685 2:29061819-29061819 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.1568G>A (p.Arg523Gln) SNV Uncertain significance 335552 rs371030335 2:27600470-27600470 2:27377603-27377603 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.605G>T (p.Gly202Val) SNV Uncertain significance 335558 rs886055907 2:27601528-27601528 2:27378661-27378661 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.-125G>T SNV Uncertain significance 335566 rs886055909 2:27603518-27603518 2:27380651-27380651 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1199G>C SNV Uncertain significance 335611 rs74855521 2:29286536-29286536 2:29063670-29063670 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1157G>A SNV Uncertain significance 335612 rs369999271 2:29286578-29286578 2:29063712-29063712 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*988C>G SNV Uncertain significance 335615 rs563291434 2:29286747-29286747 2:29063881-29063881 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*874G>A SNV Uncertain significance 335619 rs886055917 2:29286861-29286861 2:29063995-29063995 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*857C>T SNV Uncertain significance 335620 rs538810981 2:29286878-29286878 2:29064012-29064012 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*599G>A SNV Uncertain significance 335624 rs886055918 2:29287136-29287136 2:29064270-29064270 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*399C>T SNV Uncertain significance 335629 rs571534411 2:29287336-29287336 2:29064470-29064470 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3669-5G>A SNV Uncertain significance 335638 rs886055920 2:29287938-29287938 2:29065072-29065072 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3529C>T (p.Arg1177Trp) SNV Uncertain significance 335641 rs201354788 2:29293599-29293599 2:29070733-29070733 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2991G>A (p.Thr997=) SNV Uncertain significance 335643 rs528901190 2:29294137-29294137 2:29071271-29071271 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2287A>G (p.Ile763Val) SNV Uncertain significance 335649 rs886055921 2:29294841-29294841 2:29071975-29071975 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2257G>A (p.Ala753Thr) SNV Uncertain significance 335650 rs371979312 2:29294871-29294871 2:29072005-29072005 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.1968G>T (p.Arg656Ser) SNV Uncertain significance 335652 rs201980758 2:29295160-29295160 2:29072294-29072294 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*2558C>T SNV Uncertain significance 335582 rs545805260 2:29285177-29285177 2:29062311-29062311 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1844C>G SNV Uncertain significance 335595 rs146988491 2:29285891-29285891 2:29063025-29063025 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1798C>T SNV Uncertain significance 335596 rs115788507 2:29285937-29285937 2:29063071-29063071 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1746G>A SNV Uncertain significance 335597 rs577941529 2:29285989-29285989 2:29063123-29063123 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1296T>G SNV Uncertain significance 335606 rs537457852 2:29286439-29286439 2:29063573-29063573 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1259C>T SNV Uncertain significance 335608 rs558252908 2:29286476-29286476 2:29063610-29063610 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*658G>C SNV Uncertain significance 335623 rs143745034 2:29287077-29287077 2:29064211-29064211 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*227T>C SNV Uncertain significance 335633 rs536483762 2:29287508-29287508 2:29064642-29064642 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2803G>A (p.Glu935Lys) SNV Uncertain significance 335646 rs200817926 2:29294325-29294325 2:29071459-29071459 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2707C>A (p.Pro903Thr) SNV Uncertain significance 335647 rs771188017 2:29294421-29294421 2:29071555-29071555 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.48G>A (p.Ala16=) SNV Uncertain significance 343273 rs766112074 3:129247624-129247624 3:129528781-129528781 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.586C>A (p.Pro196Thr) SNV Uncertain significance 343278 rs765931092 3:129251149-129251149 3:129532306-129532306 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.614T>G (p.Ile205Ser) SNV Uncertain significance 343279 rs886057967 3:129251177-129251177 3:129532334-129532334 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*276C>T SNV Uncertain significance 343291 rs759322778 3:129252837-129252837 3:129533994-129533994 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*948T>C SNV Uncertain significance 343304 rs529674071 3:129253509-129253509 3:129534666-129534666 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*1599G>A SNV Uncertain significance 343311 rs576980794 3:129254160-129254160 3:129535317-129535317 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.*134A>G SNV Uncertain significance 335550 rs754539683 2:27600278-27600278 2:27377411-27377411 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.950G>A (p.Arg317Gln) SNV Uncertain significance 335554 rs201047611 2:27601088-27601088 2:27378221-27378221 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.749G>A (p.Arg250Gln) SNV Uncertain significance 335555 rs141337532 2:27601384-27601384 2:27378517-27378517 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.740G>A (p.Arg247Gln) SNV Uncertain significance 335556 rs139008988 2:27601393-27601393 2:27378526-27378526 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.619C>T (p.Arg207Cys) SNV Uncertain significance 335557 rs140620118 2:27601514-27601514 2:27378647-27378647 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.-48G>C SNV Uncertain significance 335562 rs563171952 2:27603441-27603441 2:27380574-27380574 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.-51C>T SNV Uncertain significance 335563 rs770982327 2:27603444-27603444 2:27380577-27380577 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.3633+1G>A SNV Uncertain significance 342333 rs886057685 3:100948223-100948223 3:101229379-101229379 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.2800T>C (p.Leu934=) SNV Uncertain significance 342343 rs764443272 3:100962375-100962375 3:101243531-101243531 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.1319G>A (p.Gly440Asp) SNV Uncertain significance 342351 rs886057688 3:100964870-100964870 3:101246026-101246026 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.887+10C>T SNV Uncertain significance 342354 rs767130055 3:100988349-100988349 3:101269505-101269505 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.57G>C (p.Leu19=) SNV Uncertain significance 342359 rs188916371 3:101039160-101039160 3:101320316-101320316 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.34C>G (p.Leu12Val) SNV Uncertain significance 342360 rs886057689 3:101039183-101039183 3:101320339-101320339 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.-131G>A SNV Uncertain significance 342362 rs537403217 3:101039347-101039347 3:101320503-101320503 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.5665G>A (p.Val1889Ile) SNV Uncertain significance 337532 rs200367764 2:96943634-96943634 2:96277896-96277896 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*368G>A SNV Uncertain significance 342327 rs568108242 3:100945445-100945445 3:101226601-101226601 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*345C>T SNV Uncertain significance 342328 rs886057684 3:100945468-100945468 3:101226624-101226624 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*115G>A SNV Uncertain significance 343285 rs886057969 3:129252676-129252676 3:129533833-129533833 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*224C>T SNV Uncertain significance 343289 rs886057970 3:129252785-129252785 3:129533942-129533942 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*440C>G SNV Uncertain significance 343293 rs886057971 3:129253001-129253001 3:129534158-129534158 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*633G>A SNV Uncertain significance 343296 rs886057972 3:129253194-129253194 3:129534351-129534351 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.6291A>G (p.Pro2097=) SNV Uncertain significance 337524 rs886056457 2:96940870-96940870 2:96275132-96275132 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.838A>G (p.Lys280Glu) SNV Uncertain significance 335071 rs373986650 2:234243639-234243639 2:233334993-233334993 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.-95G>A SNV Uncertain significance 337573 rs780044707 2:96971270-96971270 2:96305532-96305532 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*4108G>C SNV Uncertain significance 342273 rs886057664 3:100941705-100941705 3:101222861-101222861 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*3824C>T SNV Uncertain significance 342276 rs561273259 3:100941989-100941989 3:101223145-101223145 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*3007G>A SNV Uncertain significance 342286 rs553006996 3:100942806-100942806 3:101223962-101223962 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*2790G>T SNV Uncertain significance 342288 rs886057670 3:100943023-100943023 3:101224179-101224179 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*2653T>C SNV Uncertain significance 342290 rs112670504 3:100943160-100943160 3:101224316-101224316 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*2435T>C SNV Uncertain significance 342294 rs772636319 3:100943378-100943378 3:101224534-101224534 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*2242G>A SNV Uncertain significance 342297 rs531023160 3:100943571-100943571 3:101224727-101224727 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*1554C>T SNV Uncertain significance 342304 rs73156011 3:100944259-100944259 3:101225415-101225415 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*1542A>T SNV Uncertain significance 342305 rs539098 3:100944271-100944271 3:101225427-101225427 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*1447C>T SNV Uncertain significance 342306 rs886057675 3:100944366-100944366 3:101225522-101225522 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.335-13C>T SNV Uncertain significance 342357 rs201277460 3:101023169-101023169 3:101304325-101304325 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.3503C>G (p.Ala1168Gly) SNV Uncertain significance 342335 rs201519517 3:100948354-100948354 3:101229510-101229510 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.2802+8T>C SNV Uncertain significance 342342 rs886057687 3:100962365-100962365 3:101243521-101243521 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.2431T>G (p.Ser811Ala) SNV Uncertain significance 342345 rs76048775 3:100962744-100962744 3:101243900-101243900 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.1553A>G (p.Asn518Ser) SNV Uncertain significance 342348 rs200892260 3:100963622-100963622 3:101244778-101244778 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.1495C>A (p.Pro499Thr) SNV Uncertain significance 342349 rs143635399 3:100964694-100964694 3:101245850-101245850 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.4678A>G (p.Ile1560Val) SNV Uncertain significance 337540 rs78715863 2:96949358-96949358 2:96283620-96283620 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.4424G>A (p.Arg1475His) SNV Uncertain significance 337542 rs886056459 2:96949711-96949711 2:96283973-96283973 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.3632A>G (p.Asp1211Gly) SNV Uncertain significance 337547 rs886056460 2:96952751-96952751 2:96287013-96287013 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.2839C>G (p.Pro947Ala) SNV Uncertain significance 337550 rs886056462 2:96955638-96955638 2:96289900-96289900 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.2222T>C (p.Met741Thr) SNV Uncertain significance 337555 rs886056463 2:96957577-96957577 2:96291839-96291839 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.1498C>T (p.Leu500=) SNV Uncertain significance 337557 rs886056464 2:96962688-96962688 2:96296950-96296950 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.-27G>A SNV Uncertain significance 337570 rs886056469 2:96971202-96971202 2:96305464-96305464 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.*331G>C SNV Uncertain significance 337518 rs557818805 2:96940419-96940419 2:96274681-96274681 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.1270G>A (p.Val424Ile) SNV Uncertain significance 336738 rs377666612 2:62066869-62066869 2:61839734-61839734 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.*1349A>G SNV Uncertain significance 336712 rs886056214 2:62052241-62052241 2:61825106-61825106 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.*1144T>G SNV Uncertain significance 336716 rs532671656 2:62052446-62052446 2:61825311-61825311 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.*196A>C SNV Uncertain significance 336729 rs545909945 2:62053394-62053394 2:61826259-61826259 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.*68G>A SNV Uncertain significance 336730 rs765002648 2:62053522-62053522 2:61826387-61826387 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.4786G>A (p.Asp1596Asn) SNV Uncertain significance 337538 rs762326859 2:96949068-96949068 2:96283330-96283330 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.4728C>T (p.Ile1576=) SNV Uncertain significance 337539 rs377641548 2:96949308-96949308 2:96283570-96283570 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.4448G>A (p.Arg1483Gln) SNV Uncertain significance 337541 rs779888644 2:96949687-96949687 2:96283949-96283949 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.4056G>A (p.Thr1352=) SNV Uncertain significance 337544 rs758645617 2:96951026-96951026 2:96285288-96285288 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.3744C>T (p.Asp1248=) SNV Uncertain significance 337546 rs750593383 2:96952511-96952511 2:96286773-96286773 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.972C>T (p.His324=) SNV Uncertain significance 337560 rs886056465 2:96964351-96964351 2:96298613-96298613 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.808C>A (p.Arg270=) SNV Uncertain significance 337561 rs886056466 2:96964627-96964627 2:96298889-96298889 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.651C>T (p.Tyr217=) SNV Uncertain significance 337563 rs147219591 2:96965145-96965145 2:96299407-96299407 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.93C>T (p.Thr31=) SNV Uncertain significance 337568 rs886056468 2:96970559-96970559 2:96304821-96304821 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.*1223A>G SNV Uncertain significance 336714 rs886056215 2:62052367-62052367 2:61825232-61825232 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.*1100T>C SNV Uncertain significance 336719 rs78512710 2:62052490-62052490 2:61825355-61825355 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.*757G>A SNV Uncertain significance 336723 rs560037933 2:62052833-62052833 2:61825698-61825698 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.*617G>A SNV Uncertain significance 336725 rs188862164 2:62052973-62052973 2:61825838-61825838 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.6203T>A (p.Ile2068Asn) SNV Uncertain significance 337525 rs886056458 2:96941059-96941059 2:96275321-96275321 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.6174+4C>T SNV Uncertain significance 337526 rs774620973 2:96942638-96942638 2:96276900-96276900 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*3825G>A SNV Uncertain significance 342275 rs181867679 3:100941988-100941988 3:101223144-101223144 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*3774G>A SNV Uncertain significance 342278 rs773704860 3:100942039-100942039 3:101223195-101223195 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*3619C>T SNV Uncertain significance 342280 rs886057667 3:100942194-100942194 3:101223350-101223350 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*3619C>A SNV Uncertain significance 342281 rs886057667 3:100942194-100942194 3:101223350-101223350 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*3235C>A SNV Uncertain significance 342284 rs886057669 3:100942578-100942578 3:101223734-101223734 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*2658G>T SNV Uncertain significance 342289 rs78391139 3:100943155-100943155 3:101224311-101224311 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*1578C>T SNV Uncertain significance 342303 rs886057674 3:100944235-100944235 3:101225391-101225391 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*471A>T SNV Uncertain significance 342318 rs191621154 3:100945342-100945342 3:101226498-101226498 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*300T>G SNV Uncertain significance 342329 rs111515750 3:100945513-100945513 3:101226669-101226669 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*134C>T SNV Uncertain significance 342331 rs376291735 3:100945679-100945679 3:101226835-101226835 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*2595A>G SNV Uncertain significance 335577 rs780734864 2:29285140-29285140 2:29062274-29062274 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*2442G>A SNV Uncertain significance 335585 rs543543846 2:29285293-29285293 2:29062427-29062427 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*276G>T SNV Uncertain significance 332999 rs72883650 2:182402635-182402635 2:181537908-181537908 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*114A>G SNV Uncertain significance 333002 rs766876969 2:182402797-182402797 2:181538070-181538070 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.251A>T (p.Tyr84Phe) SNV Uncertain significance 333012 rs758960994 2:182468794-182468794 2:181604067-181604067 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.17G>T (p.Arg6Leu) SNV Uncertain significance 333015 rs758592149 2:182521717-182521717 2:181656990-181656990 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.*129G>A SNV Uncertain significance 335551 rs560324766 2:27600283-27600283 2:27377416-27377416 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.-24C>A SNV Uncertain significance 335561 rs780603445 2:27603417-27603417 2:27380550-27380550 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.-91C>T SNV Uncertain significance 335564 rs530824832 2:27603484-27603484 2:27380617-27380617 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.-103G>A SNV Uncertain significance 335565 rs552236644 2:27603496-27603496 2:27380629-27380629 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*3040C>T SNV Uncertain significance 335571 rs747798677 2:29284695-29284695 2:29061829-29061829 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*3037G>A SNV Uncertain significance 335572 rs569687522 2:29284698-29284698 2:29061832-29061832 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1525C>T SNV Uncertain significance 335602 rs149247863 2:29286210-29286210 2:29063344-29063344 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1278C>A SNV Uncertain significance 335607 rs886055915 2:29286457-29286457 2:29063591-29063591 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1050C>T SNV Uncertain significance 335614 rs36112528 2:29286685-29286685 2:29063819-29063819 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*903A>G SNV Uncertain significance 335618 rs146133810 2:29286832-29286832 2:29063966-29063966 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*283G>A SNV Uncertain significance 335632 rs189553973 2:29287452-29287452 2:29064586-29064586 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*34C>A SNV Uncertain significance 335634 rs745626992 2:29287701-29287701 2:29064835-29064835 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3705G>A (p.Pro1235=) SNV Uncertain significance 335636 rs191767954 2:29287897-29287897 2:29065031-29065031 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3044C>A (p.Ser1015Tyr) SNV Uncertain significance 335642 rs202196567 2:29294084-29294084 2:29071218-29071218 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2965C>A (p.Pro989Thr) SNV Uncertain significance 335645 rs184281410 2:29294163-29294163 2:29071297-29071297 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.1762C>T (p.Pro588Ser) SNV Uncertain significance 335653 rs886055922 2:29295366-29295366 2:29072500-29072500 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.1604T>C (p.Leu535Pro) SNV Uncertain significance 335657 rs886055923 2:29295524-29295524 2:29072658-29072658 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.1382T>C (p.Ile461Thr) SNV Uncertain significance 335663 rs377498611 2:29295746-29295746 2:29072880-29072880 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*1628A>T SNV Uncertain significance 912406 8:96258217-96258217 8:95245989-95245989 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*1607T>C SNV Uncertain significance 912407 8:96258238-96258238 8:95246010-95246010 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*1474G>A SNV Uncertain significance 913524 8:96258371-96258371 8:95246143-95246143 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*1151A>G SNV Uncertain significance 913525 8:96258694-96258694 8:95246466-95246466 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*1115G>C SNV Uncertain significance 913905 8:96258730-96258730 8:95246502-95246502 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*1057C>T SNV Uncertain significance 913906 8:96258788-96258788 8:95246560-95246560 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*863C>T SNV Uncertain significance 915150 8:96258982-96258982 8:95246754-95246754 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*2129A>G SNV Uncertain significance 913481 8:96257716-96257716 8:95245488-95245488 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*2212C>G SNV Uncertain significance 912348 8:96257633-96257633 8:95245405-95245405 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*2009C>T SNV Uncertain significance 913860 8:96257836-96257836 8:95245608-95245608 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*1904G>A SNV Uncertain significance 913861 8:96257941-96257941 8:95245713-95245713 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.4379G>T (p.Arg1460Ile) SNV Uncertain significance 912237 8:55540821-55540821 8:54628261-54628261 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.4393T>C (p.Leu1465=) SNV Uncertain significance 912238 8:55540835-55540835 8:54628275-54628275 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.4685T>A (p.Met1562Lys) SNV Uncertain significance 908235 8:55541127-55541127 8:54628567-54628567 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.4856A>G (p.Gln1619Arg) SNV Uncertain significance 908236 8:55541298-55541298 8:54628738-54628738 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.5123C>T (p.Ala1708Val) SNV Uncertain significance 910183 8:55541565-55541565 8:54629005-54629005 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.5585G>T (p.Arg1862Ile) SNV Uncertain significance 911067 8:55542027-55542027 8:54629467-54629467 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.5873A>G (p.Tyr1958Cys) SNV Uncertain significance 912301 8:55542315-55542315 8:54629755-54629755 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.6169C>G (p.Gln2057Glu) SNV Uncertain significance 912302 8:55542611-55542611 8:54630051-54630051 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.*75C>T SNV Uncertain significance 908298 8:55542988-55542988 8:54630428-54630428 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.*269A>G SNV Uncertain significance 908299 8:55543182-55543182 8:54630622-54630622 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.7898+12G>A SNV Uncertain significance 908842 6:64487887-64487887 6:63777994-63777994 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.7724-12C>T SNV Uncertain significance 909698 6:64488085-64488085 6:63778192-63778192 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2641+13A>G SNV Uncertain significance 910791 6:65622364-65622364 6:64912471-64912471 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1767-3C>G SNV Uncertain significance 910841 6:66006015-66006015 6:65296122-65296122 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1056+11A>G SNV Uncertain significance 908047 6:66115056-66115056 6:65405163-65405163 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.1695-11C>T SNV Uncertain significance 911966 7:128034426-128034426 7:128394372-128394372 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.1075-3C>T SNV Uncertain significance 912009 7:128037079-128037079 7:128397025-128397025 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.255-10C>T SNV Uncertain significance 912068 7:128045929-128045929 7:128405875-128405875 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.146+6G>T SNV Uncertain significance 908059 7:128049804-128049804 7:128409750-128409750 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.618+10T>C SNV Uncertain significance 912270 7:23180573-23180573 7:23140954-23140954 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*2498A>G SNV Uncertain significance 915068 8:96257347-96257347 8:95245119-95245119 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*2492C>T SNV Uncertain significance 915069 8:96257353-96257353 8:95245125-95245125 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.374C>T (p.Ser125Leu) SNV Uncertain significance 910832 6:42689699-42689699 6:42721961-42721961 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.346G>T (p.Ala116Ser) SNV Uncertain significance 908040 6:42689727-42689727 6:42721989-42721989 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.167A>G (p.Glu56Gly) SNV Uncertain significance 908107 6:42689906-42689906 6:42722168-42722168 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.*410G>A SNV Uncertain significance 909779 7:128032651-128032651 7:128392597-128392597 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.*223C>T SNV Uncertain significance 908976 7:128032838-128032838 7:128392784-128392784 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.*223C>A SNV Uncertain significance 908977 7:128032838-128032838 7:128392784-128392784 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.*809C>G SNV Uncertain significance 910218 7:23214726-23214726 7:23175107-23175107 RTN008 Retinitis Pigmentosa RP9 NM_203288.2(RP9):c.*82A>T SNV Uncertain significance 910856 7:33134764-33134764 7:33095152-33095152 RTN008 Retinitis Pigmentosa RP9 NM_203288.2(RP9):c.584A>T (p.Lys195Met) SNV Uncertain significance 910857 7:33134928-33134928 7:33095316-33095316 RTN008 Retinitis Pigmentosa RP9 NM_203288.2(RP9):c.32G>A (p.Gly11Glu) SNV Uncertain significance 912074 7:33148953-33148953 7:33109341-33109341 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.-51A>G SNV Uncertain significance 912104 8:55528724-55528724 8:54616164-54616164 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.-37T>C SNV Uncertain significance 908097 8:55528738-55528738 8:54616178-54616178 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.21T>G (p.Thr7=) SNV Uncertain significance 908098 8:55533547-55533547 8:54620987-54620987 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.104C>T (p.Ala35Val) SNV Uncertain significance 908099 8:55533630-55533630 8:54621070-54621070 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.883G>A (p.Val295Ile) SNV Uncertain significance 910049 8:55537325-55537325 8:54624765-54624765 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.1280A>C (p.Asn427Thr) SNV Uncertain significance 910944 8:55537722-55537722 8:54625162-54625162 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.1439T>C (p.Ile480Thr) SNV Uncertain significance 910945 8:55537881-55537881 8:54625321-54625321 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.1595A>G (p.Glu532Gly) SNV Uncertain significance 910946 8:55538037-55538037 8:54625477-54625477 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.1841A>G (p.His614Arg) SNV Uncertain significance 910947 8:55538283-55538283 8:54625723-54625723 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2016G>T (p.Lys672Asn) SNV Uncertain significance 912166 8:55538458-55538458 8:54625898-54625898 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2017A>G (p.Lys673Glu) SNV Uncertain significance 912167 8:55538459-55538459 8:54625899-54625899 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2239A>G (p.Ser747Gly) SNV Uncertain significance 912168 8:55538681-55538681 8:54626121-54626121 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2247C>G (p.Leu749=) SNV Uncertain significance 912169 8:55538689-55538689 8:54626129-54626129 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2545G>A (p.Gly849Arg) SNV Uncertain significance 908161 8:55538987-55538987 8:54626427-54626427 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2825C>T (p.Thr942Met) SNV Uncertain significance 908162 8:55539267-55539267 8:54626707-54626707 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.3034C>T (p.Leu1012=) SNV Uncertain significance 910116 8:55539476-55539476 8:54626916-54626916 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.3295C>G (p.His1099Asp) SNV Uncertain significance 910117 8:55539737-55539737 8:54627177-54627177 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.3357T>G (p.Ser1119=) SNV Uncertain significance 910118 8:55539799-55539799 8:54627239-54627239 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.3399C>G (p.Leu1133=) SNV Uncertain significance 910119 8:55539841-55539841 8:54627281-54627281 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.3796A>C (p.Lys1266Gln) SNV Uncertain significance 911006 8:55540238-55540238 8:54627678-54627678 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.*168G>A SNV Uncertain significance 909848 7:128032893-128032893 7:128392839-128392839 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.*137G>C SNV Uncertain significance 909849 7:128032924-128032924 7:128392870-128392870 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.*130A>G SNV Uncertain significance 909850 7:128032931-128032931 7:128392877-128392877 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.*102G>T SNV Uncertain significance 910744 7:128032959-128032959 7:128392905-128392905 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.1589G>A (p.Gly530Asp) SNV Uncertain significance 909033 7:128034615-128034615 7:128394561-128394561 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.1573G>T (p.Ala525Ser) SNV Uncertain significance 909034 7:128034631-128034631 7:128394577-128394577 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.1280C>T (p.Pro427Leu) SNV Uncertain significance 910797 7:128035310-128035310 7:128395256-128395256 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.1226G>A (p.Gly409Asp) SNV Uncertain significance 910798 7:128036689-128036689 7:128396635-128396635 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.795G>A (p.Thr265=) SNV Uncertain significance 909095 7:128040228-128040228 7:128400174-128400174 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.694A>G (p.Thr232Ala) SNV Uncertain significance 909950 7:128040479-128040479 7:128400425-128400425 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.675T>C (p.Ser225=) SNV Uncertain significance 909951 7:128040498-128040498 7:128400444-128400444 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.561C>T (p.Asn187=) SNV Uncertain significance 910850 7:128040889-128040889 7:128400835-128400835 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.424C>T (p.Arg142Trp) SNV Uncertain significance 910851 7:128041149-128041149 7:128401095-128401095 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.-13C>T SNV Uncertain significance 908060 7:128049968-128049968 7:128409914-128409914 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.-17T>C SNV Uncertain significance 908061 7:128049972-128049972 7:128409918-128409918 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.-73G>C SNV Uncertain significance 910016 7:128050028-128050028 7:128409974-128409974 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.-77G>C SNV Uncertain significance 910017 7:128050032-128050032 7:128409978-128409978 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.126G>A (p.Thr42=) SNV Uncertain significance 911033 7:23163401-23163401 7:23123782-23123782 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.416A>G (p.Glu139Gly) SNV Uncertain significance 911034 7:23164765-23164765 7:23125146-23125146 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.451G>T (p.Val151Leu) SNV Uncertain significance 911035 7:23180396-23180396 7:23140777-23140777 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.513G>A (p.Gln171=) SNV Uncertain significance 911036 7:23180458-23180458 7:23140839-23140839 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.738G>A (p.Thr246=) SNV Uncertain significance 912271 7:23183589-23183589 7:23143970-23143970 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.1092G>A (p.Ser364=) SNV Uncertain significance 912272 7:23205472-23205472 7:23165853-23165853 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.1597T>C (p.Leu533=) SNV Uncertain significance 912273 7:23213753-23213753 7:23174134-23174134 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.*24T>C SNV Uncertain significance 908274 7:23213941-23213941 7:23174322-23174322 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.*36A>C SNV Uncertain significance 908275 7:23213953-23213953 7:23174334-23174334 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.*392G>T SNV Uncertain significance 910215 7:23214309-23214309 7:23174690-23174690 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.*471T>C SNV Uncertain significance 910216 7:23214388-23214388 7:23174769-23174769 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.484G>A (p.Glu162Lys) SNV Uncertain significance 909079 6:42689589-42689589 6:42721851-42721851 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.1024G>T (p.Ala342Ser) SNV Uncertain significance 908891 6:42666050-42666050 6:42698312-42698312 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*1533A>G SNV Uncertain significance 908376 6:42664500-42664500 6:42696762-42696762 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*417A>T SNV Uncertain significance 911725 6:42665616-42665616 6:42697878-42697878 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*350C>T SNV Uncertain significance 908772 6:42665683-42665683 6:42697945-42697945 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*152G>C SNV Uncertain significance 908832 6:42665881-42665881 6:42698143-42698143 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*1000C>G SNV Uncertain significance 911537 6:42665033-42665033 6:42697295-42697295 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*743G>A SNV Uncertain significance 909503 6:42665290-42665290 6:42697552-42697552 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*692C>T SNV Uncertain significance 909504 6:42665341-42665341 6:42697603-42697603 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*661G>A SNV Uncertain significance 910443 6:42665372-42665372 6:42697634-42697634 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*626A>G SNV Uncertain significance 911661 6:42665407-42665407 6:42697669-42697669 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.*554A>G SNV Uncertain significance 910562 6:64429938-64429938 6:63720042-63720042 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.*548G>A SNV Uncertain significance 910563 6:64429944-64429944 6:63720048-63720048 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.*514A>G SNV Uncertain significance 910564 6:64429978-64429978 6:63720082-63720082 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.*286T>A SNV Uncertain significance 910565 6:64430206-64430206 6:63720310-63720310 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.*278T>C SNV Uncertain significance 910566 6:64430214-64430214 6:63720318-63720318 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.*189T>C SNV Uncertain significance 910567 6:64430303-64430303 6:63720407-63720407 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.8211A>C (p.Ala2737=) SNV Uncertain significance 908840 6:64436434-64436434 6:63726541-63726541 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.7915G>A (p.Gly2639Arg) SNV Uncertain significance 908841 6:64472510-64472510 6:63762617-63762617 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.7737T>G (p.Thr2579=) SNV Uncertain significance 908843 6:64488060-64488060 6:63778167-63778167 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.7133A>G (p.Asn2378Ser) SNV Uncertain significance 910622 6:64574174-64574174 6:63864281-63864281 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.7047C>A (p.Thr2349=) SNV Uncertain significance 910623 6:64694284-64694284 6:63984391-63984391 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.6961A>C (p.Ile2321Leu) SNV Uncertain significance 910624 6:64694370-64694370 6:63984477-63984477 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.6510C>T (p.Asn2170=) SNV Uncertain significance 911842 6:64791810-64791810 6:64081917-64081917 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.6188G>T (p.Cys2063Phe) SNV Uncertain significance 911843 6:65016866-65016866 6:64306973-64306973 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.6112A>G (p.Ile2038Val) SNV Uncertain significance 908897 6:65016942-65016942 6:64307049-64307049 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.6010G>A (p.Gly2004Arg) SNV Uncertain significance 908898 6:65098651-65098651 6:64388758-64388758 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.5903G>A (p.Gly1968Glu) SNV Uncertain significance 908899 6:65146091-65146091 6:64436198-64436198 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.5866T>G (p.Phe1956Val) SNV Uncertain significance 909762 6:65146128-65146128 6:64436235-64436235 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.5755C>T (p.Leu1919Phe) SNV Uncertain significance 909763 6:65149135-65149135 6:64439242-64439242 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.5728G>A (p.Glu1910Lys) SNV Uncertain significance 909764 6:65149162-65149162 6:64439269-64439269 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.5484A>C (p.Lys1828Asn) SNV Uncertain significance 910673 6:65300276-65300276 6:64590383-64590383 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.5436A>C (p.Val1812=) SNV Uncertain significance 910674 6:65300324-65300324 6:64590431-64590431 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.4991C>T (p.Thr1664Ile) SNV Uncertain significance 911905 6:65300769-65300769 6:64590876-64590876 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.4363A>G (p.Ile1455Val) SNV Uncertain significance 909837 6:65301397-65301397 6:64591504-64591504 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.4099T>C (p.Ser1367Pro) SNV Uncertain significance 909838 6:65301661-65301661 6:64591768-64591768 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.3972C>T (p.Leu1324=) SNV Uncertain significance 910735 6:65301788-65301788 6:64591895-64591895 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.3949A>G (p.Thr1317Ala) SNV Uncertain significance 910736 6:65301811-65301811 6:64591918-64591918 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.3694A>G (p.Ile1232Val) SNV Uncertain significance 911957 6:65303193-65303193 6:64593300-64593300 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.3265A>G (p.Met1089Val) SNV Uncertain significance 909026 6:65523449-65523449 6:64813556-64813556 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2837T>C (p.Leu946Pro) SNV Uncertain significance 909886 6:65612015-65612015 6:64902122-64902122 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2546G>A (p.Arg849His) SNV Uncertain significance 912002 6:65622472-65622472 6:64912579-64912579 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2483C>G (p.Thr828Ser) SNV Uncertain significance 912003 6:65622535-65622535 6:64912642-64912642 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2222C>T (p.Ala741Val) SNV Uncertain significance 912004 6:65707512-65707512 6:64997619-64997619 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2077G>A (p.Gly693Arg) SNV Uncertain significance 909088 6:65767567-65767567 6:65057674-65057674 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1999C>T (p.Arg667Cys) SNV Uncertain significance 909089 6:66005780-66005780 6:65295887-65295887 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1811A>G (p.Asn604Ser) SNV Uncertain significance 909941 6:66005968-66005968 6:65296075-65296075 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1497C>T (p.Ala499=) SNV Uncertain significance 910842 6:66054033-66054033 6:65344140-65344140 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1490T>C (p.Ile497Thr) SNV Uncertain significance 910843 6:66054040-66054040 6:65344147-65344147 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1293A>T (p.Arg431Ser) SNV Uncertain significance 912059 6:66094285-66094285 6:65384392-65384392 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1005G>T (p.Glu335Asp) SNV Uncertain significance 908048 6:66115118-66115118 6:65405225-65405225 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.847G>A (p.Asp283Asn) SNV Uncertain significance 908049 6:66200502-66200502 6:65490609-65490609 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.812G>A (p.Ser271Asn) SNV Uncertain significance 908050 6:66200537-66200537 6:65490644-65490644 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.583A>C (p.Ser195Arg) SNV Uncertain significance 910000 6:66204721-66204721 6:65494828-65494828 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.536G>A (p.Ser179Asn) SNV Uncertain significance 910001 6:66204768-66204768 6:65494875-65494875 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.522C>T (p.Cys174=) SNV Uncertain significance 910002 6:66204782-66204782 6:65494889-65494889 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.487C>T (p.Leu163Phe) SNV Uncertain significance 910003 6:66204817-66204817 6:65494924-65494924 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.77G>A (p.Arg26Gln) SNV Uncertain significance 910891 6:66205227-66205227 6:65495334-65495334 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.-82T>C SNV Uncertain significance 910892 6:66205385-66205385 6:65495492-65495492 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.-277C>G SNV Uncertain significance 912119 6:66205831-66205831 6:65495938-65495938 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.-333G>T SNV Uncertain significance 912120 6:66349671-66349671 6:65639778-65639778 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.*721G>A SNV Uncertain significance 911853 7:128032340-128032340 7:128392286-128392286 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.*694C>A SNV Uncertain significance 908908 7:128032367-128032367 7:128392313-128392313 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.*642G>A SNV Uncertain significance 908909 7:128032419-128032419 7:128392365-128392365 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.*613T>C SNV Uncertain significance 909777 7:128032448-128032448 7:128392394-128392394 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*336G>A SNV Uncertain significance 912446 8:96259509-96259509 8:95247281-95247281 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*249T>C SNV Uncertain significance 913561 8:96259596-96259596 8:95247368-95247368 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*155G>T SNV Uncertain significance 913562 8:96259690-96259690 8:95247462-95247462 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.598C>A (p.Leu200Ile) SNV Uncertain significance 913563 8:96259871-96259871 8:95247643-95247643 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.498A>G (p.Leu166=) SNV Uncertain significance 913949 8:96259971-96259971 8:95247743-95247743 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.15G>A (p.Leu5=) SNV Uncertain significance 912480 8:96281403-96281403 8:95269175-95269175 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.*686T>C SNV Uncertain significance 915002 9:32540699-32540699 9:32540701-32540701 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.*640T>A SNV Uncertain significance 915003 9:32540745-32540745 9:32540747-32540747 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.*430A>G SNV Uncertain significance 915004 9:32540955-32540955 9:32540957-32540957 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.*371T>C SNV Uncertain significance 915005 9:32541014-32541014 9:32541016-32541016 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.*358T>C SNV Uncertain significance 913046 9:32541027-32541027 9:32541029-32541029 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.*350A>G SNV Uncertain significance 913047 9:32541035-32541035 9:32541037-32541037 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.*309G>A SNV Uncertain significance 913048 9:32541076-32541076 9:32541078-32541078 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.*308C>T SNV Uncertain significance 913049 9:32541077-32541077 9:32541079-32541079 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.*300A>G SNV Uncertain significance 913050 9:32541085-32541085 9:32541087-32541087 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.*24A>G SNV Uncertain significance 913414 9:32541361-32541361 9:32541363-32541363 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.3038G>A (p.Ser1013Asn) SNV Uncertain significance 913415 9:32541485-32541485 9:32541487-32541487 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.2321G>A (p.Ser774Asn) SNV Uncertain significance 914529 9:32542202-32542202 9:32542204-32542204 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.1353A>C (p.Thr451=) SNV Uncertain significance 913453 9:32543170-32543170 9:32543172-32543172 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.1170A>T (p.Ser390=) SNV Uncertain significance 913454 9:32543353-32543353 9:32543355-32543355 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.829C>T (p.Arg277Cys) SNV Uncertain significance 913455 9:32543694-32543694 9:32543696-32543696 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.715C>A (p.Pro239Thr) SNV Uncertain significance 913833 9:32543808-32543808 9:32543810-32543810 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.671A>G (p.Asp224Gly) SNV Uncertain significance 913834 9:32543852-32543852 9:32543854-32543854 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.568G>A (p.Ala190Thr) SNV Uncertain significance 913835 9:32543955-32543955 9:32543957-32543957 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.487C>T (p.Leu163=) SNV Uncertain significance 913836 9:32544036-32544036 9:32544038-32544038 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.360A>G (p.Leu120=) SNV Uncertain significance 913837 9:32544163-32544163 9:32544165-32544165 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.143G>T (p.Gly48Val) SNV Uncertain significance 915084 9:32550827-32550827 9:32550829-32550829 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.-35A>G SNV Uncertain significance 914210 X:46696501-46696501 X:46837066-46837066 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.11T>G (p.Phe4Cys) SNV Uncertain significance 914211 X:46696546-46696546 X:46837111-46837111 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.420C>T (p.Ser140=) SNV Uncertain significance 914700 X:46713228-46713228 X:46853793-46853793 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.496A>G (p.Ile166Val) SNV Uncertain significance 914701 X:46713304-46713304 X:46853869-46853869 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.506A>G (p.Asn169Ser) SNV Uncertain significance 914702 X:46713314-46713314 X:46853879-46853879 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.845G>A (p.Arg282Gln) SNV Uncertain significance 912746 X:46719499-46719499 X:46860064-46860064 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.*33C>G SNV Uncertain significance 912747 X:46739237-46739237 X:46879802-46879802 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.*141T>A SNV Uncertain significance 912748 X:46739345-46739345 X:46879910-46879910 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.*504T>A SNV Uncertain significance 912749 X:46739708-46739708 X:46880273-46880273 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.*741C>T SNV Uncertain significance 912750 X:46739945-46739945 X:46880510-46880510 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.*746C>T SNV Uncertain significance 913110 X:46739950-46739950 X:46880515-46880515 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.*798T>C SNV Uncertain significance 913111 X:46740002-46740002 X:46880567-46880567 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.*1176G>A SNV Uncertain significance 914256 X:46740380-46740380 X:46880945-46880945 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.*1743T>C SNV Uncertain significance 914257 X:46740947-46740947 X:46881512-46881512 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.199-9C>T SNV Uncertain significance 913838 9:32544333-32544333 9:32544335-32544335 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.3+3A>G SNV Uncertain significance 915085 9:32552429-32552429 9:32552431-32552431 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.370T>C (p.Phe124Leu) SNV Uncertain significance 3550 rs201893545 3:101023121-101023121 3:101304277-101304277 RTN008 Retinitis Pigmentosa RP9 NM_203288.2(RP9):c.509A>G (p.Asp170Gly) SNV Uncertain significance 3335 rs104894039 7:33135003-33135003 7:33095391-33095391 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.2048G>A (p.Arg683Gln) SNV Uncertain significance 915056 9:32542475-32542475 9:32542477-32542477 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.2024G>A (p.Ser675Asn) SNV Uncertain significance 915057 9:32542499-32542499 9:32542501-32542501 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.2010A>C (p.Ser670=) SNV Uncertain significance 912325 9:32542513-32542513 9:32542515-32542515 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.1817G>A (p.Ser606Asn) SNV Uncertain significance 912326 9:32542706-32542706 9:32542708-32542708 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.1725C>T (p.Asn575=) SNV Uncertain significance 912327 9:32542798-32542798 9:32542800-32542800 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.1707A>G (p.Ser569=) SNV Uncertain significance 913451 9:32542816-32542816 9:32542818-32542818 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser) SNV Uncertain significance 48417 rs138398671 1:215847857-215847857 1:215674515-215674515 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.469G>A (p.Gly157Arg) SNV Uncertain significance 7369 rs121909124 6:42153424-42153424 6:42185686-42185686 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2978G>A (p.Gly993Glu) SNV Uncertain significance 93702 rs121918532 16:57931817-57931817 16:57897913-57897913 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.5167+4A>G SNV Uncertain significance 48530 rs397518019 1:216258036-216258036 1:216084694-216084694 RTN008 Retinitis Pigmentosa ABCA4 NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) SNV Uncertain significance 99052 rs1800548 1:94543389-94543389 1:94077833-94077833 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.1681A>G (p.Thr561Ala) SNV Uncertain significance 99685 rs281865283 11:61730307-61730307 11:61962835-61962835 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.244C>T (p.His82Tyr) SNV Uncertain significance 95581 rs144822294 17:6337271-6337271 17:6433951-6433951 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.2524C>A (p.Leu842Met) SNV Uncertain significance 95748 rs149896250 3:100962651-100962651 3:101243807-101243807 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.149C>T (p.Thr50Ile) SNV Uncertain significance 95734 rs373578680 19:54621807-54621807 19:54118427-54118427 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.1582A>G (p.Ile528Val) SNV Uncertain significance 95746 rs142710242 3:100963593-100963593 3:101244749-101244749 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.797G>T (p.Gly266Val) SNV Uncertain significance 94128 rs150480343 6:35477011-35477011 6:35509234-35509234 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser) SNV Uncertain significance 143138 rs527236084 2:112751981-112751981 2:111994404-111994404 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.15233C>G (p.Pro5078Arg) SNV Uncertain significance 143177 rs527236122 1:215807865-215807865 1:215634523-215634523 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.14243C>T (p.Ser4748Phe) SNV Uncertain significance 143175 rs527236126 1:215824034-215824034 1:215650692-215650692 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.839G>A (p.Arg280His) SNV Uncertain significance 143096 rs375412499 4:47939672-47939672 4:47937655-47937655 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.6055G>A (p.Gly2019Ser) SNV Uncertain significance 100580 rs137853908 8:55542497-55542497 8:54629937-54629937 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2747G>A (p.Arg916His) SNV Uncertain significance 100568 rs137853902 16:57937773-57937773 16:57903869-57903869 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.2035C>G (p.Gln679Glu) SNV Uncertain significance 99873 rs62636286 1:197390993-197390993 1:197421863-197421863 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.879G>A (p.Pro293=) SNV Uncertain significance 100557 rs137853899 5:149301252-149301252 5:149921689-149921689 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.645G>A (p.Leu215=) SNV Uncertain significance 335669 rs374663422 2:29296483-29296483 2:29073617-29073617 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.634C>T (p.Arg212Trp) SNV Uncertain significance 335670 rs368688827 2:29296494-29296494 2:29073628-29073628 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.459G>A (p.Thr153=) SNV Uncertain significance 335671 rs372665350 2:29296669-29296669 2:29073803-29073803 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*1058T>G SNV Uncertain significance 332982 rs200646302 2:182401853-182401853 2:181537126-181537126 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*1045G>A SNV Uncertain significance 332983 rs78381893 2:182401866-182401866 2:181537139-181537139 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*1044C>T SNV Uncertain significance 332984 rs16867441 2:182401867-182401867 2:181537140-181537140 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*743G>A SNV Uncertain significance 332990 rs201433997 2:182402168-182402168 2:181537441-181537441 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*295G>A SNV Uncertain significance 332998 rs148226735 2:182402616-182402616 2:181537889-181537889 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.1556T>C (p.Ile519Thr) SNV Uncertain significance 333004 rs141723283 2:182402954-182402954 2:181538227-181538227 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.1500T>C (p.Asp500=) SNV Uncertain significance 333005 rs141656965 2:182403857-182403857 2:181539130-181539130 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.848T>C (p.Leu283Pro) SNV Uncertain significance 333008 rs772798578 2:182414408-182414408 2:181549681-181549681 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*1216G>A SNV Uncertain significance 332980 rs886055313 2:182401695-182401695 2:181536968-181536968 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*869C>T SNV Uncertain significance 332988 rs886055314 2:182402042-182402042 2:181537315-181537315 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*780T>C SNV Uncertain significance 332989 rs886055315 2:182402131-182402131 2:181537404-181537404 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*567T>C SNV Uncertain significance 332992 rs10490690 2:182402344-182402344 2:181537617-181537617 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.*98G>A SNV Uncertain significance 335078 rs184255686 2:234255656-234255656 2:233347010-233347010 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1865G>A SNV Uncertain significance 335594 rs886055913 2:29285870-29285870 2:29063004-29063004 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1517G>A SNV Uncertain significance 335603 rs886055914 2:29286218-29286218 2:29063352-29063352 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1425C>T SNV Uncertain significance 335604 rs114274497 2:29286310-29286310 2:29063444-29063444 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1224C>G SNV Uncertain significance 335610 rs886055916 2:29286511-29286511 2:29063645-29063645 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*982C>T SNV Uncertain significance 335617 rs76693332 2:29286753-29286753 2:29063887-29063887 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3658G>A (p.Gly1220Ser) SNV Uncertain significance 335639 rs554321432 2:29293470-29293470 2:29070604-29070604 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3590G>A (p.Arg1197His) SNV Uncertain significance 335640 rs375769419 2:29293538-29293538 2:29070672-29070672 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2965C>G (p.Pro989Ala) SNV Uncertain significance 335644 rs184281410 2:29294163-29294163 2:29071297-29071297 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2530G>C (p.Ala844Pro) SNV Uncertain significance 335648 rs370203821 2:29294598-29294598 2:29071732-29071732 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.1740G>A (p.Thr580=) SNV Uncertain significance 335654 rs546110503 2:29295388-29295388 2:29072522-29072522 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.1648G>A (p.Glu550Lys) SNV Uncertain significance 335656 rs200809211 2:29295480-29295480 2:29072614-29072614 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.1582C>A (p.Arg528Ser) SNV Uncertain significance 335659 rs80151896 2:29295546-29295546 2:29072680-29072680 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.1500G>A (p.Met500Ile) SNV Uncertain significance 335660 rs886055924 2:29295628-29295628 2:29072762-29072762 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.1024G>A (p.Gly342Ser) SNV Uncertain significance 335666 rs748520550 2:29296104-29296104 2:29073238-29073238 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.556G>A (p.Ala186Thr) SNV Uncertain significance 335559 rs886055908 2:27601577-27601577 2:27378710-27378710 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*2763A>G SNV Uncertain significance 335574 rs886055912 2:29284972-29284972 2:29062106-29062106 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*2562G>C SNV Uncertain significance 335581 rs188247308 2:29285173-29285173 2:29062307-29062307 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.454T>C (p.Phe152Leu) SNV Uncertain significance 333010 rs886055318 2:182468591-182468591 2:181603864-181603864 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.820C>T (p.Pro274Ser) SNV Uncertain significance 335070 rs369789189 2:234243621-234243621 2:233334975-233334975 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.1167T>A (p.Asp389Glu) SNV Uncertain significance 335073 rs199798289 2:234255507-234255507 2:233346861-233346861 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.-11G>A SNV Uncertain significance 335065 rs754551985 2:234217825-234217825 2:233309179-233309179 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.773C>A (p.Ala258Glu) SNV Uncertain significance 330747 rs35252762 2:112722783-112722783 2:111965206-111965206 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.*517G>A SNV Uncertain significance 298016 rs574708413 1:68894942-68894942 1:68429259-68429259 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*92G>C SNV Uncertain significance 333003 rs886055317 2:182402819-182402819 2:181538092-181538092 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.996C>G (p.Val332=) SNV Uncertain significance 330751 rs886054757 2:112732901-112732901 2:111975324-111975324 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.1262G>A (p.Arg421Gln) SNV Uncertain significance 330753 rs138908058 2:112740536-112740536 2:111982959-111982959 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.1405G>T (p.Val469Phe) SNV Uncertain significance 330755 rs79943145 2:112751936-112751936 2:111994359-111994359 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.2081A>G (p.His694Arg) SNV Uncertain significance 330767 rs886054759 2:112776991-112776991 2:112019414-112019414 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.*310A>G SNV Uncertain significance 330773 rs886054763 2:112786751-112786751 2:112029174-112029174 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*330C>T SNV Uncertain significance 332997 rs115260661 2:182402581-182402581 2:181537854-181537854 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.2142G>C (p.Leu714=) SNV Uncertain significance 330768 rs200363872 2:112777052-112777052 2:112019475-112019475 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.*112G>A SNV Uncertain significance 330771 rs750580480 2:112786553-112786553 2:112028976-112028976 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.*439A>G SNV Uncertain significance 330775 rs191525605 2:112786880-112786880 2:112029303-112029303 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.21G>T (p.Pro7=) SNV Uncertain significance 330740 rs752112582 2:112656333-112656333 2:111898756-111898756 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.138C>G (p.Asp46Glu) SNV Uncertain significance 330742 rs527694612 2:112686773-112686773 2:111929196-111929196 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.782G>C (p.Ser261Thr) SNV Uncertain significance 330748 rs142284609 2:112722792-112722792 2:111965215-111965215 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.1719A>G (p.Leu573=) SNV Uncertain significance 330761 rs886054758 2:112760697-112760697 2:112003120-112003120 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.1669C>T (p.Arg557Trp) SNV Uncertain significance 330760 rs867486301 2:112758842-112758842 2:112001265-112001265 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*452G>A SNV Uncertain significance 332995 rs201131211 2:182402459-182402459 2:181537732-181537732 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.1073+11T>C SNV Uncertain significance 333006 rs186100602 2:182413396-182413396 2:181548669-181548669 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.-63C>T SNV Uncertain significance 333017 rs140924460 2:182521796-182521796 2:181657069-181657069 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.1436T>A (p.Phe479Tyr) SNV Uncertain significance 330756 rs145142422 2:112751967-112751967 2:111994390-111994390 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.*588C>A SNV Uncertain significance 298014 rs541546843 1:68894871-68894871 1:68429188-68429188 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.975T>G (p.Ile325Met) SNV Uncertain significance 298021 rs761227832 1:68904648-68904648 1:68438965-68438965 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.845A>G (p.Asn282Ser) SNV Uncertain significance 298022 rs144612129 1:68904887-68904887 1:68439204-68439204 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.683A>C (p.Gln228Pro) SNV Uncertain significance 298023 rs886046510 1:68905286-68905286 1:68439603-68439603 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.*760A>C SNV Uncertain significance 298011 rs886046508 1:68894699-68894699 1:68429016-68429016 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.468C>T (p.Tyr156=) SNV Uncertain significance 297073 rs768075911 1:26774077-26774077 1:26447586-26447586 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.710T>G (p.Phe237Cys) SNV Uncertain significance 297074 rs1057515468 1:26786580-26786580 1:26460089-26460089 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.917G>A (p.Arg306Gln) SNV Uncertain significance 297078 rs543487813 1:26795537-26795537 1:26469046-26469046 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*2045T>A SNV Uncertain significance 297107 rs76326144 1:26797667-26797667 1:26471176-26471176 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.709C>T (p.Arg237Cys) SNV Uncertain significance 330744 rs770812369 2:112705096-112705096 2:111947519-111947519 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*464T>C SNV Uncertain significance 297085 rs567665048 1:26796086-26796086 1:26469595-26469595 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*1431C>T SNV Uncertain significance 297100 rs867968139 1:26797053-26797053 1:26470562-26470562 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*1769G>A SNV Uncertain significance 297102 rs74698108 1:26797391-26797391 1:26470900-26470900 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*2104A>T SNV Uncertain significance 297109 rs182595109 1:26797726-26797726 1:26471235-26471235 RTN008 Retinitis Pigmentosa DHDDS NM_024887.3(DHDDS):c.-143C>T SNV Uncertain significance 297069 rs1011390170 1:26758780-26758780 1:26432289-26432289 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.157C>G (p.Gln53Glu) SNV Uncertain significance 297072 rs1057515434 1:26764752-26764752 1:26438261-26438261 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.775G>A (p.Asp259Asn) SNV Uncertain significance 297076 rs1057515435 1:26795395-26795395 1:26468904-26468904 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*55C>T SNV Uncertain significance 297080 rs1057515504 1:26795677-26795677 1:26469186-26469186 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*1705G>A SNV Uncertain significance 297101 rs1057515508 1:26797327-26797327 1:26470836-26470836 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.4412G>C (p.Arg1471Thr) SNV Uncertain significance 295423 rs369357349 1:216348809-216348809 1:216175467-216175467 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.4276G>A (p.Glu1426Lys) SNV Uncertain significance 295426 rs886045952 1:216363685-216363685 1:216190343-216190343 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.3969G>A (p.Met1323Ile) SNV Uncertain significance 295428 rs886045953 1:216371769-216371769 1:216198427-216198427 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*737C>A SNV Uncertain significance 297091 rs573311409 1:26796359-26796359 1:26469868-26469868 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*769G>T SNV Uncertain significance 297092 rs80313266 1:26796391-26796391 1:26469900-26469900 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*986T>A SNV Uncertain significance 297094 rs1057515472 1:26796608-26796608 1:26470117-26470117 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.*511G>A SNV Uncertain significance 298017 rs149449684 1:68894948-68894948 1:68429265-68429265 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.1386G>A (p.Glu462=) SNV Uncertain significance 298018 rs886046509 1:68896812-68896812 1:68431129-68431129 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.224G>A (p.Gly75Glu) SNV Uncertain significance 298025 rs201062742 1:68912414-68912414 1:68446731-68446731 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.1441C>T (p.Pro481Ser) SNV Uncertain significance 330757 rs781442827 2:112751972-112751972 2:111994395-111994395 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.*57T>A SNV Uncertain significance 330769 rs886054760 2:112786498-112786498 2:112028921-112028921 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.*309C>A SNV Uncertain significance 330772 rs886054762 2:112786750-112786750 2:112029173-112029173 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.*1077T>C SNV Uncertain significance 295406 rs886045945 1:216347503-216347503 1:216174161-216174161 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.*596G>A SNV Uncertain significance 295413 rs886045947 1:216347984-216347984 1:216174642-216174642 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.3342C>T (p.Asp1114=) SNV Uncertain significance 295432 rs755765979 1:216373438-216373438 1:216200096-216200096 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.1327A>G (p.Asn443Asp) SNV Uncertain significance 295443 rs775075026 1:216497511-216497511 1:216324169-216324169 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.*547T>C SNV Uncertain significance 295416 rs566131886 1:216348033-216348033 1:216174691-216174691 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.3725C>T (p.Pro1242Leu) SNV Uncertain significance 295430 rs886045954 1:216373055-216373055 1:216199713-216199713 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.1903A>G (p.Ile635Val) SNV Uncertain significance 295438 rs201808654 1:216462690-216462690 1:216289348-216289348 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.1900G>T (p.Ala634Ser) SNV Uncertain significance 295439 rs759589036 1:216462693-216462693 1:216289351-216289351 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.1363A>G (p.Ser455Gly) SNV Uncertain significance 295442 rs866877329 1:216497003-216497003 1:216323661-216323661 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.950G>A (p.Arg317Gln) SNV Uncertain significance 295444 rs760741238 1:216498840-216498840 1:216325498-216325498 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.849-4A>G SNV Uncertain significance 295445 rs765189933 1:216498945-216498945 1:216325603-216325603 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.-181C>T SNV Uncertain significance 295450 rs866904288 1:216595859-216595859 1:216422517-216422517 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.126C>T (p.Asn42=) SNV Uncertain significance 295448 rs774473277 1:216595553-216595553 1:216422211-216422211 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.-355C>G SNV Uncertain significance 295454 rs868097748 1:216596706-216596706 1:216423364-216423364 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.-53T>G SNV Uncertain significance 297071 rs375098683 1:26759384-26759384 1:26432893-26432893 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.845T>C (p.Leu282Pro) SNV Uncertain significance 297077 rs775810457 1:26795465-26795465 1:26468974-26468974 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*128C>G SNV Uncertain significance 297081 rs146706631 1:26795750-26795750 1:26469259-26469259 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*174G>T SNV Uncertain significance 297082 rs1022655060 1:26795796-26795796 1:26469305-26469305 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.*116A>G SNV Uncertain significance 294692 rs575882211 1:197447125-197447125 1:197477995-197477995 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.*412T>C SNV Uncertain significance 294696 rs564341986 1:197447421-197447421 1:197478291-197478291 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.*181C>T SNV Uncertain significance 292862 rs886045368 1:156146969-156146969 1:156177178-156177178 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.1507A>G (p.Thr503Ala) SNV Uncertain significance 294671 rs375590765 1:197390465-197390465 1:197421335-197421335 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*312C>T SNV Uncertain significance 297084 rs1057515469 1:26795934-26795934 1:26469443-26469443 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*480A>G SNV Uncertain significance 297086 rs552046225 1:26796102-26796102 1:26469611-26469611 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*515G>T SNV Uncertain significance 297087 rs747837144 1:26796137-26796137 1:26469646-26469646 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*620C>T SNV Uncertain significance 297088 rs1057515470 1:26796242-26796242 1:26469751-26469751 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*1343C>T SNV Uncertain significance 297099 rs571845250 1:26796965-26796965 1:26470474-26470474 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*2069A>G SNV Uncertain significance 297108 rs573602803 1:26797691-26797691 1:26471200-26471200 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.*837A>G SNV Uncertain significance 295409 rs779885066 1:216347743-216347743 1:216174401-216174401 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.*787C>G SNV Uncertain significance 295411 rs41277222 1:216347793-216347793 1:216174451-216174451 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.2330C>T (p.Pro777Leu) SNV Uncertain significance 294678 rs886045784 1:197396785-197396785 1:197427655-197427655 RTN008 Retinitis Pigmentosa CRB1 NM_001257965.2(CRB1):c.-212-34231C>T SNV Uncertain significance 294665 rs544047392 1:197237339-197237339 1:197268209-197268209 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.371T>A (p.Ile124Asn) SNV Uncertain significance 294667 rs886045783 1:197297852-197297852 1:197328722-197328722 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.2863A>C (p.Asn955His) SNV Uncertain significance 294683 rs886045785 1:197403856-197403856 1:197434726-197434726 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.651+15A>G SNV Uncertain significance 295446 rs765252898 1:216591841-216591841 1:216418499-216418499 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.-289C>A SNV Uncertain significance 295453 rs886045956 1:216596640-216596640 1:216423298-216423298 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.-159G>C SNV Uncertain significance 295449 rs886045955 1:216595837-216595837 1:216422495-216422495 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.-289C>T SNV Uncertain significance 295452 rs886045956 1:216596640-216596640 1:216423298-216423298 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.*575C>A SNV Uncertain significance 295414 rs886045948 1:216348005-216348005 1:216174663-216174663 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.*316A>G SNV Uncertain significance 295418 rs886045949 1:216348264-216348264 1:216174922-216174922 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.*147T>C SNV Uncertain significance 295420 rs771693146 1:216348433-216348433 1:216175091-216175091 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.4366G>A (p.Ala1456Thr) SNV Uncertain significance 295424 rs886045950 1:216363595-216363595 1:216190253-216190253 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.4349T>C (p.Val1450Ala) SNV Uncertain significance 295425 rs886045951 1:216363612-216363612 1:216190270-216190270 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.3884G>A (p.Arg1295Gln) SNV Uncertain significance 295429 rs372993160 1:216371854-216371854 1:216198512-216198512 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.3177G>A (p.Pro1059=) SNV Uncertain significance 295435 rs767648070 1:216380754-216380754 1:216207412-216207412 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.3157+12C>T SNV Uncertain significance 295436 rs199853422 1:216390717-216390717 1:216217375-216217375 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.2279A>G (p.Asn760Ser) SNV Uncertain significance 295437 rs776095235 1:216420457-216420457 1:216247115-216247115 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.2917C>G (p.Leu973Val) SNV Uncertain significance 294684 rs886045786 1:197403910-197403910 1:197434780-197434780 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.3202A>G (p.Thr1068Ala) SNV Uncertain significance 294685 rs886045787 1:197404195-197404195 1:197435065-197435065 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.*158G>T SNV Uncertain significance 294693 rs886045789 1:197447167-197447167 1:197478037-197478037 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.*799C>T SNV Uncertain significance 295410 rs192047831 1:216347781-216347781 1:216174439-216174439 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.*548C>T SNV Uncertain significance 295415 rs769348449 1:216348032-216348032 1:216174690-216174690 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.*397A>G SNV Uncertain significance 295417 rs772732997 1:216348183-216348183 1:216174841-216174841 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.*267T>C SNV Uncertain significance 295419 rs570544314 1:216348313-216348313 1:216174971-216174971 RTN008 Retinitis Pigmentosa CRB1 NM_001257965.2(CRB1):c.-212-34222G>A SNV Uncertain significance 294666 rs886045782 1:197237348-197237348 1:197268218-197268218 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.*371T>C SNV Uncertain significance 292866 rs886045369 1:156147159-156147159 1:156177368-156177368 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.-64A>G SNV Uncertain significance 292842 rs753268297 1:156123521-156123521 1:156153730-156153730 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.2251G>A (p.Ala751Thr) SNV Uncertain significance 292859 rs747089050 1:156146753-156146753 1:156176962-156176962 RTN008 Retinitis Pigmentosa PRPF3 NM_004698.4(PRPF3):c.1317T>C (p.Tyr439=) SNV Uncertain significance 292500 rs782312050 1:150315819-150315819 1:150343343-150343343 RTN008 Retinitis Pigmentosa PRPF3 NM_004698.4(PRPF3):c.*64A>G SNV Uncertain significance 292508 rs886045263 1:150325519-150325519 1:150353043-150353043 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.90C>T (p.Thr30=) SNV Uncertain significance 292843 rs373565051 1:156124459-156124459 1:156154668-156154668 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.*570A>C SNV Uncertain significance 292868 rs886045370 1:156147358-156147358 1:156177567-156177567 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.*666C>A SNV Uncertain significance 292869 rs181676637 1:156147454-156147454 1:156177663-156177663 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.-165G>A SNV Uncertain significance 292841 rs113436119 1:156123420-156123420 1:156153629-156153629 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.494C>T (p.Ser165Leu) SNV Uncertain significance 292847 rs201943133 1:156128541-156128541 1:156158750-156158750 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.1337C>T (p.Ala446Val) SNV Uncertain significance 292852 rs886045366 1:156144634-156144634 1:156174843-156174843 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.2167C>A (p.Arg723Ser) SNV Uncertain significance 292856 rs199933282 1:156146669-156146669 1:156176878-156176878 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.*179C>T SNV Uncertain significance 292861 rs886045367 1:156146967-156146967 1:156177176-156177176 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.*187G>A SNV Uncertain significance 292863 rs767596816 1:156146975-156146975 1:156177184-156177184 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.*711A>C SNV Uncertain significance 292870 rs886045371 1:156147499-156147499 1:156177708-156177708 RTN008 Retinitis Pigmentosa PRPF3 NM_004698.4(PRPF3):c.822G>C (p.Leu274=) SNV Uncertain significance 292499 rs886045260 1:150307499-150307499 1:150335028-150335028 RTN008 Retinitis Pigmentosa PRPF3 NM_004698.4(PRPF3):c.1526+14G>T SNV Uncertain significance 292502 rs376006808 1:150316751-150316751 1:150344275-150344275 RTN008 Retinitis Pigmentosa PRPF3 NM_004698.4(PRPF3):c.1851G>A (p.Glu617=) SNV Uncertain significance 292504 rs782390597 1:150321640-150321640 1:150349164-150349164 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.2106C>T (p.Leu702=) SNV Uncertain significance 292854 rs772147085 1:156146608-156146608 1:156176817-156176817 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.2134G>A (p.Ala712Thr) SNV Uncertain significance 292855 rs772819214 1:156146636-156146636 1:156176845-156176845 RTN008 Retinitis Pigmentosa PRPF3 NM_004698.4(PRPF3):c.1455A>G (p.Leu485=) SNV Uncertain significance 292501 rs886045261 1:150316666-150316666 1:150344190-150344190 RTN008 Retinitis Pigmentosa PRPF3 NM_004698.4(PRPF3):c.1906-15A>C SNV Uncertain significance 292505 rs886045262 1:150325294-150325294 1:150352818-150352818 RTN008 Retinitis Pigmentosa PRPF3 NM_004698.4(PRPF3):c.*209T>C SNV Uncertain significance 292511 rs886045265 1:150325664-150325664 1:150353188-150353188 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1349T>C (p.Phe450Ser) SNV Uncertain significance 289315 rs185588836 5:149277984-149277984 5:149898421-149898421 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.1090G>T (p.Ala364Ser) SNV Uncertain significance 291000 rs201875142 17:6328845-6328845 17:6425525-6425525 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.846G>A (p.Pro282=) SNV Uncertain significance 287340 rs149980694 6:35473933-35473933 6:35506156-35506156 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1641G>A (p.Thr547=) SNV Uncertain significance 287043 rs534717081 10:48389237-48389237 10:47350125-47350125 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.2152G>A (p.Asp718Asn) SNV Uncertain significance 287073 rs150639487 4:658692-658692 4:664903-664903 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr) SNV Uncertain significance 285044 rs148938083 5:149310665-149310665 5:149931102-149931102 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.1043A>G (p.Lys348Arg) SNV Uncertain significance 287580 rs140419673 4:47939468-47939468 4:47937451-47937451 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.2459A>G (p.Asn820Ser) SNV Uncertain significance 286632 rs34447581 1:216420277-216420277 1:216246935-216246935 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.7475C>T (p.Ser2492Leu) SNV Uncertain significance 286836 rs483353056 1:216073536-216073536 1:215900194-215900194 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.1438G>A (p.Val480Ile) SNV Uncertain significance 285799 rs138694314 1:216496928-216496928 1:216323586-216323586 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp) SNV Uncertain significance 285861 rs563581127 6:42689706-42689706 6:42721968-42721968 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1581G>A (p.Pro527=) SNV Uncertain significance 286370 rs782233629 10:48389297-48389297 10:47350065-47350065 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.958C>T (p.Arg320Cys) SNV Uncertain significance 281380 rs374283240 2:29296170-29296170 2:29073304-29073304 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.1215C>T (p.Gly405=) SNV Uncertain significance 281473 rs754808908 2:29295913-29295913 2:29073047-29073047 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.545T>G (p.Phe182Cys) SNV Uncertain significance 281739 rs142244640 15:89755113-89755113 15:89211882-89211882 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys) SNV Uncertain significance 281818 rs750396156 1:215848679-215848679 1:215675337-215675337 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.521A>G (p.Lys174Arg) SNV Uncertain significance 283430 rs148114532 8:96259948-96259948 8:95247720-95247720 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) SNV Uncertain significance 194357 rs201652272 6:65707500-65707500 6:64997607-64997607 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.878G>A (p.Ser293Asn) SNV Uncertain significance 194195 rs146170855 16:57984441-57984441 16:57950537-57950537 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.2372A>G (p.Glu791Gly) SNV Uncertain significance 194254 rs752321097 3:100962803-100962803 3:101243959-101243959 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.1243A>G (p.Asn415Asp) SNV Uncertain significance 194098 rs138834349 3:100964946-100964946 3:101246102-101246102 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.1428G>A (p.Ser476=) SNV Uncertain significance 194106 rs140192398 14:88904394-88904394 14:88438050-88438050 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1514A>T (p.His505Leu) SNV Uncertain significance 193241 rs201808774 10:48389364-48389364 10:47349998-47349998 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.176G>A (p.Gly59Glu) SNV Uncertain significance 193465 rs758153602 2:62081001-62081001 2:61853866-61853866 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3177T>C (p.Pro1059=) SNV Uncertain significance 193144 rs794726892 2:29293951-29293951 2:29071085-29071085 RTN008 Retinitis Pigmentosa ROM1 NM_000327.3(ROM1):c.323C>T (p.Thr108Met) SNV Uncertain significance 193088 rs146358003 11:62381076-62381076 11:62613604-62613604 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.537T>C (p.Pro179=) SNV Uncertain significance 193136 rs201965800 2:29296591-29296591 2:29073725-29073725 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.1033A>G (p.Met345Val) SNV Uncertain significance 167716 rs375371982 14:88897520-88897520 14:88431176-88431176 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*3T>G SNV Uncertain significance 167259 rs200942685 4:155670291-155670291 4:154749139-154749139 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1840G>A (p.Asp614Asn) SNV Uncertain significance 167571 rs149642039 10:48389038-48389038 10:47350324-47350324 RTN008 Retinitis Pigmentosa PDE6G NM_002602.4(PDE6G):c.*4G>A SNV Uncertain significance 167442 rs200236628 17:79618100-79618100 17:81651070-81651070 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.1123C>T (p.Arg375Trp) SNV Uncertain significance 167672 rs201094714 1:156132874-156132874 1:156163083-156163083 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.3045C>G (p.His1015Gln) SNV Uncertain significance 179958 rs541918040 1:216390841-216390841 1:216217499-216217499 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe) SNV Uncertain significance 179130 rs727504652 1:216373196-216373196 1:216199854-216199854 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) SNV Uncertain significance 166479 rs550772689 1:216166437-216166437 1:215993095-215993095 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) SNV Uncertain significance 179773 rs727505116 1:216258195-216258195 1:216084853-216084853 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.2414G>C (p.Gly805Ala) SNV Uncertain significance 156393 rs587783023 1:216420322-216420322 1:216246980-216246980 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.3489C>T (p.Asp1163=) SNV Uncertain significance 194803 rs139156019 1:216373291-216373291 1:216199949-216199949 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg) SNV Uncertain significance 194823 rs367857088 6:65612039-65612039 6:64902146-64902146 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.1132G>A (p.Val378Ile) SNV Uncertain significance 194605 rs200602069 2:234255472-234255472 2:233346826-233346826 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.875G>A (p.Arg292Gln) SNV Uncertain significance 193815 rs554322769 2:234243676-234243676 2:233335030-233335030 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln) SNV Uncertain significance 194611 rs150628823 7:128034396-128034396 7:128394342-128394342 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.3568+5T>C SNV Uncertain significance 195735 rs539477235 6:65336009-65336009 6:64626116-64626116 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys) SNV Uncertain significance 195667 rs192843629 16:57950041-57950041 16:57916137-57916137 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.385G>A (p.Val129Ile) SNV Uncertain significance 197173 rs138630905 10:86012639-86012639 10:84252883-84252883 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.184C>T (p.Pro62Ser) SNV Uncertain significance 196359 rs781650198 6:35479963-35479963 6:35512186-35512186 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.2161A>G (p.Arg721Gly) SNV Uncertain significance 196419 rs794727506 9:32542362-32542362 9:32542364-32542364 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.2862A>C (p.Thr954=) SNV Uncertain significance 196422 rs143560726 9:32541661-32541661 9:32541663-32541663 RTN008 Retinitis Pigmentosa PRPF3 NM_004698.4(PRPF3):c.501A>G (p.Thr167=) SNV Uncertain significance 197766 rs146995242 1:150305232-150305232 1:150332761-150332761 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.364T>A (p.Leu122Ile) SNV Uncertain significance 197835 rs202230167 14:88883180-88883180 14:88416836-88416836 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.195A>C (p.Arg65=) SNV Uncertain significance 197876 rs771614823 14:68191823-68191823 14:67725106-67725106 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.305G>A (p.Arg102Gln) SNV Uncertain significance 196464 rs181630986 17:6331798-6331798 17:6428478-6428478 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.4299A>G (p.Ala1433=) SNV Uncertain significance 197273 rs148918111 8:55540741-55540741 8:54628181-54628181 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.3532G>T (p.Asp1178Tyr) SNV Uncertain significance 197274 rs147384119 8:55539974-55539974 8:54627414-54627414 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.191G>T (p.Gly64Val) SNV Uncertain significance 197626 rs201031527 4:47953415-47953415 4:47951398-47951398 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.962C>T (p.Thr321Ile) SNV Uncertain significance 208299 rs376854254 10:48389916-48389916 10:47349446-47349446 RTN008 Retinitis Pigmentosa CNNM4 NM_020184.4(CNNM4):c.2130+5G>A SNV Uncertain significance 198236 rs200517269 2:97474484-97474484 2:96808747-96808747 RTN008 Retinitis Pigmentosa BBS2 NM_031885.4(BBS2):c.98C>A (p.Ala33Asp) SNV Uncertain significance 209042 rs797045155 16:56553677-56553677 16:56519765-56519765 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1135G>A (p.Ala379Thr) SNV Uncertain significance 208301 rs781840247 10:48389743-48389743 10:47349619-47349619 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1795A>G (p.Ile599Val) SNV Uncertain significance 208310 rs144289912 10:48389083-48389083 10:47350279-47350279 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.2063C>T (p.Ala688Val) SNV Uncertain significance 208313 rs200168559 10:48388815-48388815 10:47350547-47350547 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1589C>G (p.Pro530Arg) SNV Uncertain significance 209979 rs201553871 16:57957231-57957231 16:57923327-57923327 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.2221G>A (p.Gly741Ser) SNV Uncertain significance 208315 rs143110000 10:48388657-48388657 10:47350705-47350705 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.2503G>A (p.Gly835Ser) SNV Uncertain significance 208319 rs782480179 10:48388375-48388375 10:47350987-47350987 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.3613T>A (p.Ser1205Thr) SNV Uncertain significance 235809 rs146153708 10:48382036-48382036 10:47357326-47357326 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.10999A>C (p.Thr3667Pro) SNV Uncertain significance 225512 rs150822759 1:215940071-215940071 1:215766729-215766729 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.1271G>A (p.Arg424Gln) SNV Uncertain significance 225316 rs192912733 4:47939240-47939240 4:47937223-47937223 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) SNV Uncertain significance 229616 rs143696882 1:215853640-215853640 1:215680298-215680298 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.5673G>T (p.Leu1891Phe) SNV Uncertain significance 252662 rs139088785 8:55542115-55542115 8:54629555-54629555 RTN008 Retinitis Pigmentosa RCBTB1 NM_018191.4(RCBTB1):c.1202C>T (p.Ser401Leu) SNV Uncertain significance 253021 rs556664001 13:50115934-50115934 13:49541798-49541798 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.2119C>T (p.Arg707Trp) SNV Uncertain significance 236449 rs142092713 5:149263008-149263008 5:149883445-149883445 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr) SNV Uncertain significance 236450 rs147010346 5:149323870-149323870 5:149944307-149944307 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1382C>T (p.Thr461Met) SNV Uncertain significance 236513 rs147593839 16:57965773-57965773 16:57931869-57931869 RTN008 Retinitis Pigmentosa RCBTB1 NM_018191.4(RCBTB1):c.1151A>G (p.His384Arg) SNV Uncertain significance 253019 rs143970072 13:50118894-50118894 13:49544758-49544758 RTN008 Retinitis Pigmentosa PDE6B NC_000004.12:g.670904G>A SNV Uncertain significance 905841 4:664693-664693 4:670904-670904 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1728+13C>T SNV Uncertain significance 907857 5:149274733-149274733 5:149895170-149895170 RTN008 Retinitis Pigmentosa MAK NM_001242957.3(MAK):c.1673-15A>G SNV Uncertain significance 903937 6:10770478-10770478 6:10770245-10770245 RTN008 Retinitis Pigmentosa MAK NM_001242957.3(MAK):c.1597+13T>A SNV Uncertain significance 903938 6:10775548-10775548 6:10775315-10775315 RTN008 Retinitis Pigmentosa MAK NM_001242957.3(MAK):c.1144-8C>T SNV Uncertain significance 905825 6:10792088-10792088 6:10791855-10791855 RTN008 Retinitis Pigmentosa MAK NM_001242957.3(MAK):c.358+12T>C SNV Uncertain significance 907340 6:10813865-10813865 6:10813632-10813632 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.1495+3G>A SNV Uncertain significance 906795 6:35467755-35467755 6:35499978-35499978 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.1112+8T>C SNV Uncertain significance 907780 6:35473510-35473510 6:35505733-35505733 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*940C>G SNV Uncertain significance 910125 6:42151613-42151613 6:42183875-42183875 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*688G>A SNV Uncertain significance 911015 6:42151865-42151865 6:42184127-42184127 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*589T>C SNV Uncertain significance 911016 6:42151964-42151964 6:42184226-42184226 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*559T>C SNV Uncertain significance 912246 6:42151994-42151994 6:42184256-42184256 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*461C>T SNV Uncertain significance 908241 6:42152092-42152092 6:42184354-42184354 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*445G>A SNV Uncertain significance 908242 6:42152108-42152108 6:42184370-42184370 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*428C>T SNV Uncertain significance 908243 6:42152125-42152125 6:42184387-42184387 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*51A>T SNV Uncertain significance 907805 5:149240407-149240407 5:149860844-149860844 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*38T>C SNV Uncertain significance 907806 5:149240420-149240420 5:149860857-149860857 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.2512G>A (p.Ala838Thr) SNV Uncertain significance 904485 5:149240529-149240529 5:149860966-149860966 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.2495C>T (p.Ser832Leu) SNV Uncertain significance 904486 5:149242693-149242693 5:149863130-149863130 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.2417G>A (p.Arg806His) SNV Uncertain significance 904487 5:149242771-149242771 5:149863208-149863208 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.2350G>A (p.Val784Ile) SNV Uncertain significance 905268 5:149245741-149245741 5:149866178-149866178 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.2322C>T (p.Val774=) SNV Uncertain significance 905269 5:149245769-149245769 5:149866206-149866206 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.2252C>T (p.Thr751Met) SNV Uncertain significance 905270 5:149247310-149247310 5:149867747-149867747 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.2037G>A (p.Thr679=) SNV Uncertain significance 906869 5:149263090-149263090 5:149883527-149883527 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1965T>C (p.His655=) SNV Uncertain significance 906870 5:149264104-149264104 5:149884541-149884541 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1824C>G (p.Asn608Lys) SNV Uncertain significance 907855 5:149265842-149265842 5:149886279-149886279 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1776G>A (p.Met592Ile) SNV Uncertain significance 907856 5:149265890-149265890 5:149886327-149886327 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1130A>G (p.Glu377Gly) SNV Uncertain significance 904543 5:149279071-149279071 5:149899508-149899508 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.944T>G (p.Phe315Cys) SNV Uncertain significance 905335 5:149294560-149294560 5:149914997-149914997 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.940A>C (p.Asn314His) SNV Uncertain significance 905336 5:149294564-149294564 5:149915001-149915001 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.672G>T (p.Val224=) SNV Uncertain significance 906945 5:149313538-149313538 5:149933975-149933975 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.578T>C (p.Met193Thr) SNV Uncertain significance 907920 5:149314178-149314178 5:149934615-149934615 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.367G>A (p.Asp123Asn) SNV Uncertain significance 904619 5:149323870-149323870 5:149944307-149944307 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.363C>T (p.Leu121=) SNV Uncertain significance 904620 5:149323874-149323874 5:149944311-149944311 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.298C>T (p.Arg100Trp) SNV Uncertain significance 905412 5:149323939-149323939 5:149944376-149944376 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.285C>T (p.Ser95=) SNV Uncertain significance 905413 5:149323952-149323952 5:149944389-149944389 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.282G>A (p.Met94Ile) SNV Uncertain significance 905414 5:149323955-149323955 5:149944392-149944392 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.253C>G (p.Leu85Val) SNV Uncertain significance 905415 5:149323984-149323984 5:149944421-149944421 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.175G>A (p.Glu59Lys) SNV Uncertain significance 905927 5:149324062-149324062 5:149944499-149944499 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.*272C>G SNV Uncertain significance 905194 6:35465832-35465832 6:35498055-35498055 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.1569C>T (p.Cys523=) SNV Uncertain significance 905195 6:35466164-35466164 6:35498387-35498387 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.1563G>A (p.Pro521=) SNV Uncertain significance 906794 6:35466170-35466170 6:35498393-35498393 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.1169G>A (p.Arg390His) SNV Uncertain significance 907778 6:35471569-35471569 6:35503792-35503792 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.1152C>T (p.Asn384=) SNV Uncertain significance 907779 6:35471586-35471586 6:35503809-35503809 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.904G>A (p.Gly302Ser) SNV Uncertain significance 907781 6:35473875-35473875 6:35506098-35506098 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.719G>A (p.Gly240Asp) SNV Uncertain significance 906836 6:35477089-35477089 6:35509312-35509312 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.682G>A (p.Glu228Lys) SNV Uncertain significance 906837 6:35477447-35477447 6:35509670-35509670 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.647C>T (p.Ala216Val) SNV Uncertain significance 906838 6:35477482-35477482 6:35509705-35509705 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.541G>C (p.Val181Leu) SNV Uncertain significance 904521 6:35477664-35477664 6:35509887-35509887 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.224C>T (p.Ser75Phe) SNV Uncertain significance 905305 6:35479550-35479550 6:35511773-35511773 RTN008 Retinitis Pigmentosa PDE6B NC_000004.12:g.663191G>A SNV Uncertain significance 907110 4:656980-656980 4:663191-663191 RTN008 Retinitis Pigmentosa PDE6B NC_000004.12:g.666524C>T SNV Uncertain significance 906171 4:660313-660313 4:666524-666524 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*358A>G SNV Uncertain significance 910192 6:42152195-42152195 6:42184457-42184457 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*107C>T SNV Uncertain significance 910193 6:42152446-42152446 6:42184708-42184708 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.570C>T (p.Leu190=) SNV Uncertain significance 911077 6:42152586-42152586 6:42184848-42184848 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.516G>A (p.Arg172=) SNV Uncertain significance 911078 6:42152640-42152640 6:42184902-42184902 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.260G>C (p.Arg87Thr) SNV Uncertain significance 911079 6:42156417-42156417 6:42188679-42188679 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.150C>T (p.Asp50=) SNV Uncertain significance 911286 6:42162409-42162409 6:42194671-42194671 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.111C>A (p.Leu37=) SNV Uncertain significance 911287 6:42162448-42162448 6:42194710-42194710 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.95G>C (p.Cys32Ser) SNV Uncertain significance 911288 6:42162464-42162464 6:42194726-42194726 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*2717G>A SNV Uncertain significance 904357 5:149237741-149237741 5:149858178-149858178 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*2620C>A SNV Uncertain significance 904358 5:149237838-149237838 5:149858275-149858275 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*2616G>A SNV Uncertain significance 904359 5:149237842-149237842 5:149858279-149858279 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*2615C>T SNV Uncertain significance 904360 5:149237843-149237843 5:149858280-149858280 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*2582T>C SNV Uncertain significance 904361 5:149237876-149237876 5:149858313-149858313 RTN008 Retinitis Pigmentosa PDE6B NC_000004.12:g.670222T>A SNV Uncertain significance 907236 4:664011-664011 4:670222-670222 RTN008 Retinitis Pigmentosa PDE6B NC_000004.12:g.670294G>A SNV Uncertain significance 907237 4:664083-664083 4:670294-670294 RTN008 Retinitis Pigmentosa PDE6B NC_000004.12:g.670322A>G SNV Uncertain significance 903897 4:664111-664111 4:670322-670322 RTN008 Retinitis Pigmentosa PDE6B NC_000004.12:g.670488C>T SNV Uncertain significance 905779 4:664277-664277 4:670488-670488 RTN008 Retinitis Pigmentosa PDE6B NC_000004.12:g.662597C>G SNV Uncertain significance 907108 4:656386-656386 4:662597-662597 RTN008 Retinitis Pigmentosa PDE6B NC_000004.12:g.663163T>C SNV Uncertain significance 907109 4:656952-656952 4:663163-663163 RTN008 Retinitis Pigmentosa PDE6B NC_000004.12:g.662590C>A SNV Uncertain significance 906102 4:656379-656379 4:662590-662590 RTN008 Retinitis Pigmentosa PDE6B NC_000004.12:g.654882T>C SNV Uncertain significance 905524 4:648671-648671 4:654882-654882 RTN008 Retinitis Pigmentosa PDE6B NC_000004.12:g.657005G>A SNV Uncertain significance 907053 4:650794-650794 4:657005-657005 RTN008 Retinitis Pigmentosa PDE6B NC_000004.12:g.659009G>A SNV Uncertain significance 903663 4:652798-652798 4:659009-659009 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*2400G>A SNV Uncertain significance 905160 5:149238058-149238058 5:149858495-149858495 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*2383G>A SNV Uncertain significance 905161 5:149238075-149238075 5:149858512-149858512 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*2138G>A SNV Uncertain significance 906747 5:149238320-149238320 5:149858757-149858757 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*2068G>A SNV Uncertain significance 906748 5:149238390-149238390 5:149858827-149858827 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*2029G>A SNV Uncertain significance 906749 5:149238429-149238429 5:149858866-149858866 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*1867A>T SNV Uncertain significance 907748 5:149238591-149238591 5:149859028-149859028 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*1780C>T SNV Uncertain significance 907749 5:149238678-149238678 5:149859115-149859115 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*1703A>C SNV Uncertain significance 907750 5:149238755-149238755 5:149859192-149859192 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*1693A>C SNV Uncertain significance 907751 5:149238765-149238765 5:149859202-149859202 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*1359G>T SNV Uncertain significance 904420 5:149239099-149239099 5:149859536-149859536 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*1339T>G SNV Uncertain significance 904421 5:149239119-149239119 5:149859556-149859556 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*1251C>A SNV Uncertain significance 905220 5:149239207-149239207 5:149859644-149859644 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*956G>A SNV Uncertain significance 905221 5:149239502-149239502 5:149859939-149859939 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*955C>T SNV Uncertain significance 905222 5:149239503-149239503 5:149859940-149859940 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*932T>C SNV Uncertain significance 905223 5:149239526-149239526 5:149859963-149859963 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*814T>C SNV Uncertain significance 906810 5:149239644-149239644 5:149860081-149860081 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*714G>C SNV Uncertain significance 906811 5:149239744-149239744 5:149860181-149860181 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*704G>A SNV Uncertain significance 906812 5:149239754-149239754 5:149860191-149860191 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*522T>G SNV Uncertain significance 907803 5:149239936-149239936 5:149860373-149860373 RTN008 Retinitis Pigmentosa PDE6B NC_000004.12:g.653927A>G SNV Uncertain significance 905966 4:647716-647716 4:653927-653927 RTN008 Retinitis Pigmentosa PDE6B NC_000004.12:g.625942C>T SNV Uncertain significance 903746 4:619731-619731 4:625942-625942 RTN008 Retinitis Pigmentosa PDE6B NC_000004.12:g.625923G>A SNV Uncertain significance 903744 4:619712-619712 4:625923-625923 RTN008 Retinitis Pigmentosa PDE6B NC_000004.12:g.625735G>A SNV Uncertain significance 903661 4:619524-619524 4:625735-625735 RTN008 Retinitis Pigmentosa PDE6B NC_000004.12:g.625736A>G SNV Uncertain significance 903662 4:619525-619525 4:625736-625736 RTN008 Retinitis Pigmentosa CNGA1 NC_000004.12:g.47942030A>G SNV Uncertain significance 901965 4:47944047-47944047 4:47942030-47942030 RTN008 Retinitis Pigmentosa CNGA1 NC_000004.12:g.47949819G>T SNV Uncertain significance 902867 4:47951836-47951836 4:47949819-47949819 RTN008 Retinitis Pigmentosa CNGA1 NM_001375386.1(CNGA1):c.-210-2054T>G SNV Uncertain significance 901468 4:48014964-48014964 4:48012947-48012947 RTN008 Retinitis Pigmentosa CNGA1 NM_001375386.1(CNGA1):c.-210-2062G>T SNV Uncertain significance 901469 4:48014972-48014972 4:48012955-48012955 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.2489+8T>C SNV Uncertain significance 902154 4:15982037-15982037 4:15980414-15980414 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1579-12A>C SNV Uncertain significance 901585 4:16000123-16000123 4:15998500-15998500 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.250T>A (p.Tyr84Asn) SNV Uncertain significance 902806 4:16040595-16040595 4:16038972-16038972 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.697-11G>A SNV Uncertain significance 899389 3:129251365-129251365 3:129532522-129532522 RTN008 Retinitis Pigmentosa ARL6 NM_001278293.3(ARL6):c.*495C>T SNV Uncertain significance 900957 3:97517388-97517388 3:97798544-97798544 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.-1-12T>C SNV Uncertain significance 903211 4:155665466-155665466 4:154744314-154744314 RTN008 Retinitis Pigmentosa CNGA1 NC_000004.12:g.48010834C>T SNV Uncertain significance 900314 4:48012851-48012851 4:48010834-48010834 RTN008 Retinitis Pigmentosa CNGA1 NC_000004.12:g.48010860C>T SNV Uncertain significance 900315 4:48012877-48012877 4:48010860-48010860 RTN008 Retinitis Pigmentosa CNGA1 NC_000004.12:g.48012897G>A SNV Uncertain significance 901466 4:48014914-48014914 4:48012897-48012897 RTN008 Retinitis Pigmentosa CNGA1 NC_000004.12:g.48012936C>G SNV Uncertain significance 901467 4:48014953-48014953 4:48012936-48012936 RTN008 Retinitis Pigmentosa CNGA1 NC_000004.12:g.47936069G>A SNV Uncertain significance 902814 4:47938086-47938086 4:47936069-47936069 RTN008 Retinitis Pigmentosa CNGA1 NC_000004.12:g.47936079A>G SNV Uncertain significance 902815 4:47938096-47938096 4:47936079-47936079 RTN008 Retinitis Pigmentosa CNGA1 NC_000004.12:g.47936194T>A SNV Uncertain significance 900251 4:47938211-47938211 4:47936194-47936194 RTN008 Retinitis Pigmentosa CNGA1 NC_000004.12:g.47936368T>C SNV Uncertain significance 900252 4:47938385-47938385 4:47936368-47936368 RTN008 Retinitis Pigmentosa CNGA1 NC_000004.12:g.47937091T>C SNV Uncertain significance 901406 4:47939108-47939108 4:47937091-47937091 RTN008 Retinitis Pigmentosa CNGA1 NC_000004.12:g.47937245T>C SNV Uncertain significance 901407 4:47939262-47939262 4:47937245-47937245 RTN008 Retinitis Pigmentosa CNGA1 NC_000004.12:g.47937424G>A SNV Uncertain significance 901408 4:47939441-47939441 4:47937424-47937424 RTN008 Retinitis Pigmentosa CNGA1 NC_000004.12:g.47937634C>T SNV Uncertain significance 901962 4:47939651-47939651 4:47937634-47937634 RTN008 Retinitis Pigmentosa CNGA1 NC_000004.12:g.47937810C>T SNV Uncertain significance 901963 4:47939827-47939827 4:47937810-47937810 RTN008 Retinitis Pigmentosa CNGA1 NC_000004.12:g.47940774C>T SNV Uncertain significance 901964 4:47942791-47942791 4:47940774-47940774 RTN008 Retinitis Pigmentosa CNGA1 NC_000004.12:g.47952655A>G SNV Uncertain significance 900311 4:47954672-47954672 4:47952655-47952655 RTN008 Retinitis Pigmentosa CNGA1 NC_000004.12:g.47981437G>A SNV Uncertain significance 900312 4:47983454-47983454 4:47981437-47981437 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.706G>A (p.Val236Met) SNV Uncertain significance 901286 4:16025027-16025027 4:16023404-16023404 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.380G>T (p.Gly127Val) SNV Uncertain significance 900186 4:16035056-16035056 4:16033433-16033433 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.2050C>G (p.Arg684Gly) SNV Uncertain significance 902565 4:15991381-15991381 4:15989758-15989758 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1387T>C (p.Tyr463His) SNV Uncertain significance 901091 4:16008228-16008228 4:16006605-16006605 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.2397A>G (p.Gly799=) SNV Uncertain significance 899417 4:15982137-15982137 4:15980514-15980514 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.754C>T (p.Arg252Cys) SNV Uncertain significance 900513 3:129251433-129251433 3:129532590-129532590 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.847T>C (p.Phe283Leu) SNV Uncertain significance 902169 3:129251526-129251526 3:129532683-129532683 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.-188G>A SNV Uncertain significance 895711 2:27603581-27603581 2:27380714-27380714 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*3063A>G SNV Uncertain significance 895712 2:29284672-29284672 2:29061806-29061806 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*2909C>T SNV Uncertain significance 901246 3:100942904-100942904 3:101224060-101224060 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*1294A>G SNV Uncertain significance 900698 3:129253855-129253855 3:129535012-129535012 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*1454G>A SNV Uncertain significance 900699 3:129254015-129254015 3:129535172-129535172 RTN008 Retinitis Pigmentosa ARL6 NM_032146.5(ARL6):c.-415C>T SNV Uncertain significance 902482 3:97483533-97483533 3:97764689-97764689 RTN008 Retinitis Pigmentosa ARL6 NM_032146.5(ARL6):c.-411A>G SNV Uncertain significance 902483 3:97483537-97483537 3:97764693-97764693 RTN008 Retinitis Pigmentosa ARL6 NM_001278293.3(ARL6):c.121A>G (p.Asn41Asp) SNV Uncertain significance 899728 3:97487072-97487072 3:97768228-97768228 RTN008 Retinitis Pigmentosa ARL6 NM_001278293.3(ARL6):c.266C>A (p.Ala89Asp) SNV Uncertain significance 899729 3:97503810-97503810 3:97784966-97784966 RTN008 Retinitis Pigmentosa ARL6 NM_001278293.3(ARL6):c.266C>G (p.Ala89Gly) SNV Uncertain significance 900888 3:97503810-97503810 3:97784966-97784966 RTN008 Retinitis Pigmentosa ARL6 NM_001278293.3(ARL6):c.306G>A (p.Met102Ile) SNV Uncertain significance 900889 3:97503850-97503850 3:97785006-97785006 RTN008 Retinitis Pigmentosa ARL6 NM_001278293.3(ARL6):c.341A>G (p.Asn114Ser) SNV Uncertain significance 900890 3:97503885-97503885 3:97785041-97785041 RTN008 Retinitis Pigmentosa ARL6 NM_001278293.3(ARL6):c.365G>A (p.Arg122Gln) SNV Uncertain significance 900891 3:97506849-97506849 3:97788005-97788005 RTN008 Retinitis Pigmentosa ARL6 NM_001278293.3(ARL6):c.365G>C (p.Arg122Pro) SNV Uncertain significance 902555 3:97506849-97506849 3:97788005-97788005 RTN008 Retinitis Pigmentosa ARL6 NM_001278293.3(ARL6):c.*309T>C SNV Uncertain significance 899792 3:97517202-97517202 3:97798358-97798358 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*3509C>A SNV Uncertain significance 899855 4:155673797-155673797 4:154752645-154752645 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*3714T>C SNV Uncertain significance 901031 4:155674002-155674002 4:154752850-154752850 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*3917A>G SNV Uncertain significance 901584 4:155674205-155674205 4:154753053-154753053 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.*1149A>G SNV Uncertain significance 901959 4:15969867-15969867 4:15968244-15968244 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.*1143A>C SNV Uncertain significance 902864 4:15969873-15969873 4:15968250-15968250 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.*985C>G SNV Uncertain significance 901462 4:15970031-15970031 4:15968408-15968408 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.*781G>A SNV Uncertain significance 900368 4:15970235-15970235 4:15968612-15968612 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.*681C>G SNV Uncertain significance 900369 4:15970335-15970335 4:15968712-15968712 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.*640T>A SNV Uncertain significance 901516 4:15970376-15970376 4:15968753-15968753 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.*580T>A SNV Uncertain significance 902098 4:15970436-15970436 4:15968813-15968813 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.*198T>C SNV Uncertain significance 902975 4:15970818-15970818 4:15969195-15969195 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.*189A>G SNV Uncertain significance 900420 4:15970827-15970827 4:15969204-15969204 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.*107G>T SNV Uncertain significance 900421 4:15970909-15970909 4:15969286-15969286 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.-15C>T SNV Uncertain significance 903210 4:155665361-155665361 4:154744209-154744209 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.80C>G (p.Ser27Trp) SNV Uncertain significance 899603 4:155665558-155665558 4:154744406-154744406 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.364A>G (p.Ile122Val) SNV Uncertain significance 900735 4:155665842-155665842 4:154744690-154744690 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.476A>G (p.Asn159Ser) SNV Uncertain significance 902418 4:155665954-155665954 4:154744802-154744802 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.519G>T (p.Pro173=) SNV Uncertain significance 902419 4:155665997-155665997 4:154744845-154744845 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*81T>C SNV Uncertain significance 902420 4:155670369-155670369 4:154749217-154749217 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*98C>A SNV Uncertain significance 903276 4:155670386-155670386 4:154749234-154749234 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*138C>A SNV Uncertain significance 899673 4:155670426-155670426 4:154749274-154749274 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*336C>T SNV Uncertain significance 899674 4:155670624-155670624 4:154749472-154749472 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*495C>T SNV Uncertain significance 899675 4:155670783-155670783 4:154749631-154749631 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*517G>A SNV Uncertain significance 899676 4:155670805-155670805 4:154749653-154749653 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*561A>G SNV Uncertain significance 900814 4:155670849-155670849 4:154749697-154749697 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*624T>C SNV Uncertain significance 900815 4:155670912-155670912 4:154749760-154749760 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*828G>C SNV Uncertain significance 903351 4:155671116-155671116 4:154749964-154749964 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*1120C>T SNV Uncertain significance 903352 4:155671408-155671408 4:154750256-154750256 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*1390G>A SNV Uncertain significance 899736 4:155671678-155671678 4:154750526-154750526 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*1418C>G SNV Uncertain significance 899737 4:155671706-155671706 4:154750554-154750554 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*1936G>C SNV Uncertain significance 900893 4:155672224-155672224 4:154751072-154751072 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*2064T>G SNV Uncertain significance 900894 4:155672352-155672352 4:154751200-154751200 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*2222G>C SNV Uncertain significance 902562 4:155672510-155672510 4:154751358-154751358 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*2322C>T SNV Uncertain significance 902563 4:155672610-155672610 4:154751458-154751458 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*2347C>T SNV Uncertain significance 902564 4:155672635-155672635 4:154751483-154751483 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*2417G>A SNV Uncertain significance 903413 4:155672705-155672705 4:154751553-154751553 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*2458C>T SNV Uncertain significance 899798 4:155672746-155672746 4:154751594-154751594 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*2629G>A SNV Uncertain significance 900961 4:155672917-155672917 4:154751765-154751765 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*2854A>G SNV Uncertain significance 902616 4:155673142-155673142 4:154751990-154751990 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*2855A>G SNV Uncertain significance 902617 4:155673143-155673143 4:154751991-154751991 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*3072G>T SNV Uncertain significance 902618 4:155673360-155673360 4:154752208-154752208 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*3081A>C SNV Uncertain significance 903464 4:155673369-155673369 4:154752217-154752217 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*3163C>T SNV Uncertain significance 903465 4:155673451-155673451 4:154752299-154752299 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*3213C>T SNV Uncertain significance 903466 4:155673501-155673501 4:154752349-154752349 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*3263C>T SNV Uncertain significance 903467 4:155673551-155673551 4:154752399-154752399 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*26C>T SNV Uncertain significance 903052 3:129252587-129252587 3:129533744-129533744 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*285G>A SNV Uncertain significance 900553 3:129252846-129252846 3:129534003-129534003 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*406G>C SNV Uncertain significance 902235 3:129252967-129252967 3:129534124-129534124 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*542G>A SNV Uncertain significance 903110 3:129253103-129253103 3:129534260-129534260 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*551G>A SNV Uncertain significance 903111 3:129253112-129253112 3:129534269-129534269 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*573C>T SNV Uncertain significance 899489 3:129253134-129253134 3:129534291-129534291 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*670A>C SNV Uncertain significance 899490 3:129253231-129253231 3:129534388-129534388 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*679A>G SNV Uncertain significance 899491 3:129253240-129253240 3:129534397-129534397 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*815G>T SNV Uncertain significance 900623 3:129253376-129253376 3:129534533-129534533 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*1179T>C SNV Uncertain significance 899557 3:129253740-129253740 3:129534897-129534897 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.87C>T (p.Tyr29=) SNV Uncertain significance 900393 3:129247663-129247663 3:129528820-129528820 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.205C>T (p.Arg69Cys) SNV Uncertain significance 900453 3:129247781-129247781 3:129528938-129528938 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.399C>A (p.Ile133=) SNV Uncertain significance 902117 3:129249756-129249756 3:129530913-129530913 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.440G>A (p.Arg147His) SNV Uncertain significance 902118 3:129249797-129249797 3:129530954-129530954 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.630C>T (p.Val210=) SNV Uncertain significance 899388 3:129251193-129251193 3:129532350-129532350 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.704C>A (p.Ala235Asp) SNV Uncertain significance 899390 3:129251383-129251383 3:129532540-129532540 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.732G>A (p.Gln244=) SNV Uncertain significance 900511 3:129251411-129251411 3:129532568-129532568 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.867-6T>C SNV Uncertain significance 896750 20:62630950-62630950 20:63999597-63999597 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.1305+11C>T SNV Uncertain significance 897223 20:62641682-62641682 20:64010329-64010329 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.1306-7C>T SNV Uncertain significance 897224 20:62642631-62642631 20:64011278-64011278 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.1525-7C>T SNV Uncertain significance 898395 20:62648069-62648069 20:64016716-64016716 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.1769+8G>A SNV Uncertain significance 898396 20:62654239-62654239 20:64022886-64022886 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.2673+12C>G SNV Uncertain significance 896806 20:62663409-62663409 20:64032056-64032056 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*4374A>G SNV Uncertain significance 901174 3:100941439-100941439 3:101222595-101222595 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*4143A>G SNV Uncertain significance 901175 3:100941670-100941670 3:101222826-101222826 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*3974A>G SNV Uncertain significance 901176 3:100941839-100941839 3:101222995-101222995 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*3949C>T SNV Uncertain significance 901728 3:100941864-100941864 3:101223020-101223020 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*3773C>T SNV Uncertain significance 901729 3:100942040-100942040 3:101223196-101223196 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*3740C>T SNV Uncertain significance 902635 3:100942073-100942073 3:101223229-101223229 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*3658C>T SNV Uncertain significance 902636 3:100942155-100942155 3:101223311-101223311 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*3624T>G SNV Uncertain significance 902637 3:100942189-100942189 3:101223345-101223345 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*3467G>A SNV Uncertain significance 902638 3:100942346-100942346 3:101223502-101223502 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*3287C>G SNV Uncertain significance 900084 3:100942526-100942526 3:101223682-101223682 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*3152T>C SNV Uncertain significance 900085 3:100942661-100942661 3:101223817-101223817 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*3103G>T SNV Uncertain significance 900086 3:100942710-100942710 3:101223866-101223866 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*2966C>T SNV Uncertain significance 900087 3:100942847-100942847 3:101224003-101224003 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*2838G>C SNV Uncertain significance 901248 3:100942975-100942975 3:101224131-101224131 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*2781C>T SNV Uncertain significance 901249 3:100943032-100943032 3:101224188-101224188 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*2682T>C SNV Uncertain significance 901250 3:100943131-100943131 3:101224287-101224287 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*2592T>C SNV Uncertain significance 901788 3:100943221-100943221 3:101224377-101224377 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*2385T>A SNV Uncertain significance 901789 3:100943428-100943428 3:101224584-101224584 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*2329T>C SNV Uncertain significance 901790 3:100943484-100943484 3:101224640-101224640 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*2174C>T SNV Uncertain significance 902696 3:100943639-100943639 3:101224795-101224795 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*2042G>C SNV Uncertain significance 902697 3:100943771-100943771 3:101224927-101224927 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*1735C>T SNV Uncertain significance 902698 3:100944078-100944078 3:101225234-101225234 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*1719A>G SNV Uncertain significance 902699 3:100944094-100944094 3:101225250-101225250 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*1600C>T SNV Uncertain significance 900146 3:100944213-100944213 3:101225369-101225369 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*1599G>A SNV Uncertain significance 900147 3:100944214-100944214 3:101225370-101225370 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*1551G>A SNV Uncertain significance 900148 3:100944262-100944262 3:101225418-101225418 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*1162T>C SNV Uncertain significance 901313 3:100944651-100944651 3:101225807-101225807 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*944A>G SNV Uncertain significance 901314 3:100944869-100944869 3:101226025-101226025 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*898T>G SNV Uncertain significance 901315 3:100944915-100944915 3:101226071-101226071 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*874T>C SNV Uncertain significance 901316 3:100944939-100944939 3:101226095-101226095 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*868C>T SNV Uncertain significance 901860 3:100944945-100944945 3:101226101-101226101 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*685A>G SNV Uncertain significance 901861 3:100945128-100945128 3:101226284-101226284 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*569G>C SNV Uncertain significance 901862 3:100945244-100945244 3:101226400-101226400 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*565A>T SNV Uncertain significance 901863 3:100945248-100945248 3:101226404-101226404 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*563G>T SNV Uncertain significance 901864 3:100945250-100945250 3:101226406-101226406 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*212G>T SNV Uncertain significance 900209 3:100945601-100945601 3:101226757-101226757 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*180T>G SNV Uncertain significance 900210 3:100945633-100945633 3:101226789-101226789 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.3703G>C (p.Glu1235Gln) SNV Uncertain significance 901371 3:100947651-100947651 3:101228807-101228807 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.3386C>G (p.Ala1129Gly) SNV Uncertain significance 901372 3:100949837-100949837 3:101230993-101230993 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.3288G>A (p.Val1096=) SNV Uncertain significance 901919 3:100949935-100949935 3:101231091-101231091 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.3126C>T (p.Tyr1042=) SNV Uncertain significance 901920 3:100951732-100951732 3:101232888-101232888 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.2933C>T (p.Ala978Val) SNV Uncertain significance 901921 3:100961621-100961621 3:101242777-101242777 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.2700G>A (p.Val900=) SNV Uncertain significance 902827 3:100962475-100962475 3:101243631-101243631 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.2154C>A (p.Thr718=) SNV Uncertain significance 902828 3:100963021-100963021 3:101244177-101244177 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.2028T>G (p.Phe676Leu) SNV Uncertain significance 900266 3:100963147-100963147 3:101244303-101244303 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.1763A>C (p.Asp588Ala) SNV Uncertain significance 900267 3:100963412-100963412 3:101244568-101244568 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.1728C>G (p.Val576=) SNV Uncertain significance 900268 3:100963447-100963447 3:101244603-101244603 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.1579T>G (p.Ser527Ala) SNV Uncertain significance 901427 3:100963596-100963596 3:101244752-101244752 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.1298C>T (p.Pro433Leu) SNV Uncertain significance 901428 3:100964891-100964891 3:101246047-101246047 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.1219G>T (p.Ala407Ser) SNV Uncertain significance 901977 3:100972560-100972560 3:101253716-101253716 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.1187T>C (p.Leu396Pro) SNV Uncertain significance 901978 3:100972592-100972592 3:101253748-101253748 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.1173C>A (p.His391Gln) SNV Uncertain significance 901979 3:100972606-100972606 3:101253762-101253762 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.989C>G (p.Ser330Cys) SNV Uncertain significance 901980 3:100976537-100976537 3:101257693-101257693 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.972C>T (p.Asp324=) SNV Uncertain significance 901981 3:100976554-100976554 3:101257710-101257710 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.937T>C (p.Phe313Leu) SNV Uncertain significance 901982 3:100976589-100976589 3:101257745-101257745 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.874G>A (p.Val292Ile) SNV Uncertain significance 902879 3:100988372-100988372 3:101269528-101269528 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.745C>T (p.Leu249Phe) SNV Uncertain significance 902880 3:100992508-100992508 3:101273664-101273664 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.361T>C (p.Phe121Leu) SNV Uncertain significance 902882 3:101023130-101023130 3:101304286-101304286 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.165C>T (p.Asp55=) SNV Uncertain significance 900328 3:101038597-101038597 3:101319753-101319753 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.-24G>T SNV Uncertain significance 900391 3:129247553-129247553 3:129528710-129528710 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*205G>A SNV Uncertain significance 893499 19:48343429-48343429 19:47840172-47840172 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*272T>C SNV Uncertain significance 893797 19:48343496-48343496 19:47840239-47840239 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.*9G>A SNV Uncertain significance 894694 19:54634872-54634872 19:54131441-54131441 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.*63G>T SNV Uncertain significance 892705 19:54634926-54634926 19:54131495-54131495 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*3036C>T SNV Uncertain significance 895997 2:29284699-29284699 2:29061833-29061833 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*3008G>T SNV Uncertain significance 895998 2:29284727-29284727 2:29061861-29061861 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*2652T>C SNV Uncertain significance 897593 2:29285083-29285083 2:29062217-29062217 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*2649C>T SNV Uncertain significance 897594 2:29285086-29285086 2:29062220-29062220 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*2546G>A SNV Uncertain significance 898751 2:29285189-29285189 2:29062323-29062323 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*2512G>A SNV Uncertain significance 898752 2:29285223-29285223 2:29062357-29062357 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*2441C>A SNV Uncertain significance 895783 2:29285294-29285294 2:29062428-29062428 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*2383G>A SNV Uncertain significance 895784 2:29285352-29285352 2:29062486-29062486 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*2207C>T SNV Uncertain significance 896066 2:29285528-29285528 2:29062662-29062662 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*2066A>G SNV Uncertain significance 896067 2:29285669-29285669 2:29062803-29062803 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1969G>A SNV Uncertain significance 897656 2:29285766-29285766 2:29062900-29062900 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1933G>C SNV Uncertain significance 897657 2:29285802-29285802 2:29062936-29062936 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1930C>T SNV Uncertain significance 897658 2:29285805-29285805 2:29062939-29062939 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1785C>T SNV Uncertain significance 897659 2:29285950-29285950 2:29063084-29063084 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1714G>A SNV Uncertain significance 898822 2:29286021-29286021 2:29063155-29063155 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1703A>G SNV Uncertain significance 898823 2:29286032-29286032 2:29063166-29063166 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1686C>A SNV Uncertain significance 898824 2:29286049-29286049 2:29063183-29063183 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1666C>T SNV Uncertain significance 898825 2:29286069-29286069 2:29063203-29063203 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1140T>C SNV Uncertain significance 897734 2:29286595-29286595 2:29063729-29063729 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*997G>A SNV Uncertain significance 897735 2:29286738-29286738 2:29063872-29063872 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*953G>A SNV Uncertain significance 898885 2:29286782-29286782 2:29063916-29063916 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*929G>A SNV Uncertain significance 898886 2:29286806-29286806 2:29063940-29063940 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.3640-15T>C SNV Uncertain significance 894916 2:96952630-96952630 2:96286892-96286892 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.1515+11C>A SNV Uncertain significance 897980 2:96962660-96962660 2:96296922-96296922 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.574+12C>T SNV Uncertain significance 894975 2:96967250-96967250 2:96301512-96301512 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.1010+8A>G SNV Uncertain significance 896023 20:2640337-2640337 20:2659691-2659691 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.916-8C>T SNV Uncertain significance 897616 20:2640447-2640447 20:2659801-2659801 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.338-10G>T SNV Uncertain significance 898775 20:2641625-2641625 20:2660979-2660979 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.337+11C>T SNV Uncertain significance 898776 20:2644081-2644081 20:2663435-2663435 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.118-6A>G SNV Uncertain significance 895807 20:2644410-2644410 20:2663764-2663764 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.438+15C>T SNV Uncertain significance 895335 20:62624853-62624853 20:63993500-63993500 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.439-4C>T SNV Uncertain significance 895336 20:62626265-62626265 20:63994912-63994912 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.6037C>T (p.Arg2013Cys) SNV Uncertain significance 894848 2:96942874-96942874 2:96277136-96277136 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.5346G>A (p.Ser1782=) SNV Uncertain significance 896290 2:96944427-96944427 2:96278689-96278689 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.5336G>A (p.Arg1779His) SNV Uncertain significance 896291 2:96944437-96944437 2:96278699-96278699 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.5104T>C (p.Cys1702Arg) SNV Uncertain significance 897907 2:96945218-96945218 2:96279480-96279480 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.4966G>A (p.Val1656Met) SNV Uncertain significance 897908 2:96947610-96947610 2:96281872-96281872 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.3888C>A (p.Pro1296=) SNV Uncertain significance 894915 2:96952164-96952164 2:96286426-96286426 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.2927C>T (p.Thr976Met) SNV Uncertain significance 896362 2:96955550-96955550 2:96289812-96289812 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.2122G>A (p.Val708Ile) SNV Uncertain significance 897977 2:96958748-96958748 2:96293010-96293010 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.2005C>T (p.Pro669Ser) SNV Uncertain significance 897978 2:96959085-96959085 2:96293347-96293347 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.1996C>T (p.Arg666Cys) SNV Uncertain significance 897979 2:96959094-96959094 2:96293356-96293356 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.781C>A (p.Arg261=) SNV Uncertain significance 899108 2:96964654-96964654 2:96298916-96298916 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.423T>C (p.Ala141=) SNV Uncertain significance 894976 2:96967413-96967413 2:96301675-96301675 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.162C>T (p.Asp54=) SNV Uncertain significance 896417 2:96970490-96970490 2:96304752-96304752 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.87C>T (p.Asp29=) SNV Uncertain significance 896418 2:96970565-96970565 2:96304827-96304827 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.-16C>T SNV Uncertain significance 896419 2:96971191-96971191 2:96305453-96305453 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.*177A>G SNV Uncertain significance 895740 20:2639220-2639220 20:2658574-2658574 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.*139G>A SNV Uncertain significance 895741 20:2639258-2639258 20:2658612-2658612 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.1145C>G (p.Thr382Ser) SNV Uncertain significance 895742 20:2639410-2639410 20:2658764-2658764 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.900C>T (p.Tyr300=) SNV Uncertain significance 897617 20:2640691-2640691 20:2660045-2660045 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.706G>C (p.Val236Leu) SNV Uncertain significance 897618 20:2640971-2640971 20:2660325-2660325 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.160C>G (p.Leu54Val) SNV Uncertain significance 898777 20:2644362-2644362 20:2663716-2663716 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.73G>A (p.Gly25Ser) SNV Uncertain significance 895808 20:2644615-2644615 20:2663969-2663969 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.16G>A (p.Gly6Arg) SNV Uncertain significance 895809 20:2644819-2644819 20:2664173-2664173 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.-107A>G SNV Uncertain significance 896694 20:62612492-62612492 20:63981139-63981139 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.-99C>G SNV Uncertain significance 896695 20:62612500-62612500 20:63981147-63981147 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.-53C>T SNV Uncertain significance 898312 20:62612546-62612546 20:63981193-63981193 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.61C>T (p.Leu21=) SNV Uncertain significance 898313 20:62612659-62612659 20:63981306-63981306 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.279C>T (p.Pro93=) SNV Uncertain significance 895332 20:62616298-62616298 20:63984945-63984945 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.282C>T (p.Tyr94=) SNV Uncertain significance 895333 20:62616301-62616301 20:63984948-63984948 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.351A>G (p.Lys117=) SNV Uncertain significance 895334 20:62616370-62616370 20:63985017-63985017 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.1246C>A (p.Pro416Thr) SNV Uncertain significance 897222 20:62641612-62641612 20:64010259-64010259 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.2077G>T (p.Ala693Ser) SNV Uncertain significance 898397 20:62658383-62658383 20:64027030-64027030 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.2107C>T (p.Arg703Trp) SNV Uncertain significance 898398 20:62658413-62658413 20:64027060-64027060 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.2349C>T (p.Ser783=) SNV Uncertain significance 895409 20:62659840-62659840 20:64028487-64028487 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.2607G>A (p.Lys869=) SNV Uncertain significance 895410 20:62663331-62663331 20:64031978-64031978 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.*1T>C SNV Uncertain significance 896807 20:62664347-62664347 20:64032994-64032994 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.*27G>A SNV Uncertain significance 897289 20:62664373-62664373 20:64033020-64033020 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.1539-5T>A SNV Uncertain significance 895838 2:182402976-182402976 2:181538249-181538249 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.895+13C>T SNV Uncertain significance 897707 2:182414348-182414348 2:181549621-181549621 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.-28-10A>G SNV Uncertain significance 896658 2:234217798-234217798 2:233309152-233309152 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.75+7G>T SNV Uncertain significance 897119 2:234217917-234217917 2:233309271-233309271 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.1583+13G>A SNV Uncertain significance 897551 2:62066543-62066543 2:61839408-61839408 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.1583+11A>G SNV Uncertain significance 898703 2:62066545-62066545 2:61839410-61839410 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.6093-6C>T SNV Uncertain significance 898980 2:96942729-96942729 2:96276991-96276991 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.6092+3G>A SNV Uncertain significance 894847 2:96942816-96942816 2:96277078-96277078 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.208C>T (p.Arg70Cys) SNV Uncertain significance 898283 2:234229302-234229302 2:233320656-233320656 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.269C>G (p.Ser90Cys) SNV Uncertain significance 895287 2:234229363-234229363 2:233320717-233320717 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.298G>A (p.Ala100Thr) SNV Uncertain significance 895288 2:234229392-234229392 2:233320746-233320746 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.453T>G (p.Phe151Leu) SNV Uncertain significance 897182 2:234235784-234235784 2:233327138-233327138 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.777C>T (p.Tyr259=) SNV Uncertain significance 898348 2:234240329-234240329 2:233331683-233331683 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.778G>A (p.Val260Ile) SNV Uncertain significance 895368 2:234240330-234240330 2:233331684-233331684 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.793A>G (p.Met265Val) SNV Uncertain significance 895369 2:234240345-234240345 2:233331699-233331699 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.866C>T (p.Ala289Val) SNV Uncertain significance 895370 2:234243667-234243667 2:233335021-233335021 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.1054G>A (p.Ala352Thr) SNV Uncertain significance 896773 2:234250924-234250924 2:233342278-233342278 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.*20C>T SNV Uncertain significance 898428 2:234255578-234255578 2:233346932-233346932 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.*113C>T SNV Uncertain significance 895438 2:234255671-234255671 2:233347025-233347025 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.*254T>A SNV Uncertain significance 896993 2:27600158-27600158 2:27377291-27377291 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.*225G>A SNV Uncertain significance 897473 2:27600187-27600187 2:27377320-27377320 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.*217G>C SNV Uncertain significance 897474 2:27600195-27600195 2:27377328-27377328 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.*174G>A SNV Uncertain significance 897475 2:27600238-27600238 2:27377371-27377371 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.*164G>A SNV Uncertain significance 897476 2:27600248-27600248 2:27377381-27377381 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.*60C>T SNV Uncertain significance 897477 2:27600352-27600352 2:27377485-27377485 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.*54C>T SNV Uncertain significance 898629 2:27600358-27600358 2:27377491-27377491 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.*29C>T SNV Uncertain significance 898630 2:27600383-27600383 2:27377516-27377516 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.*15C>T SNV Uncertain significance 898631 2:27600397-27600397 2:27377530-27377530 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.1601G>A (p.Arg534Gln) SNV Uncertain significance 898632 2:27600437-27600437 2:27377570-27377570 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.1443G>A (p.Thr481=) SNV Uncertain significance 898633 2:27600595-27600595 2:27377728-27377728 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.1432G>A (p.Ala478Thr) SNV Uncertain significance 898634 2:27600606-27600606 2:27377739-27377739 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.1225G>A (p.Val409Ile) SNV Uncertain significance 895646 2:27600813-27600813 2:27377946-27377946 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.1224C>T (p.Arg408=) SNV Uncertain significance 895647 2:27600814-27600814 2:27377947-27377947 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.984T>A (p.Gly328=) SNV Uncertain significance 895648 2:27601054-27601054 2:27378187-27378187 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.900C>T (p.Cys300=) SNV Uncertain significance 895649 2:27601138-27601138 2:27378271-27378271 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.780G>A (p.Ala260=) SNV Uncertain significance 897059 2:27601353-27601353 2:27378486-27378486 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.739C>G (p.Arg247Gly) SNV Uncertain significance 897060 2:27601394-27601394 2:27378527-27378527 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.537C>T (p.Arg179=) SNV Uncertain significance 897540 2:27601596-27601596 2:27378729-27378729 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.377C>T (p.Pro126Leu) SNV Uncertain significance 897541 2:27601756-27601756 2:27378889-27378889 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.219T>C (p.Ser73=) SNV Uncertain significance 897542 2:27601914-27601914 2:27379047-27379047 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.-8C>G SNV Uncertain significance 897543 2:27603401-27603401 2:27380534-27380534 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*474T>C SNV Uncertain significance 895924 2:29287261-29287261 2:29064395-29064395 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*413G>A SNV Uncertain significance 895925 2:29287322-29287322 2:29064456-29064456 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*412C>T SNV Uncertain significance 895926 2:29287323-29287323 2:29064457-29064457 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*400G>A SNV Uncertain significance 896202 2:29287335-29287335 2:29064469-29064469 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*395T>G SNV Uncertain significance 896203 2:29287340-29287340 2:29064474-29064474 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*204G>T SNV Uncertain significance 896204 2:29287531-29287531 2:29064665-29064665 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3816C>A (p.Ile1272=) SNV Uncertain significance 897807 2:29287786-29287786 2:29064920-29064920 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3722C>T (p.Ser1241Phe) SNV Uncertain significance 897808 2:29287880-29287880 2:29065014-29065014 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3712A>C (p.Ser1238Arg) SNV Uncertain significance 897809 2:29287890-29287890 2:29065024-29065024 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3620C>A (p.Thr1207Asn) SNV Uncertain significance 898961 2:29293508-29293508 2:29070642-29070642 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3605G>A (p.Arg1202Gln) SNV Uncertain significance 898962 2:29293523-29293523 2:29070657-29070657 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3531G>A (p.Arg1177=) SNV Uncertain significance 894833 2:29293597-29293597 2:29070731-29070731 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3404C>T (p.Pro1135Leu) SNV Uncertain significance 894834 2:29293724-29293724 2:29070858-29070858 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3356C>T (p.Thr1119Ile) SNV Uncertain significance 894835 2:29293772-29293772 2:29070906-29070906 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3307A>G (p.Arg1103Gly) SNV Uncertain significance 896271 2:29293821-29293821 2:29070955-29070955 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3269C>T (p.Ser1090Leu) SNV Uncertain significance 896272 2:29293859-29293859 2:29070993-29070993 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3254C>T (p.Ser1085Leu) SNV Uncertain significance 896273 2:29293874-29293874 2:29071008-29071008 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3194C>G (p.Pro1065Arg) SNV Uncertain significance 896274 2:29293934-29293934 2:29071068-29071068 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2898A>C (p.Pro966=) SNV Uncertain significance 897890 2:29294230-29294230 2:29071364-29071364 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2874C>T (p.Ile958=) SNV Uncertain significance 899029 2:29294254-29294254 2:29071388-29071388 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2709T>G (p.Pro903=) SNV Uncertain significance 899030 2:29294419-29294419 2:29071553-29071553 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2539G>C (p.Glu847Gln) SNV Uncertain significance 894901 2:29294589-29294589 2:29071723-29071723 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2424G>A (p.Leu808=) SNV Uncertain significance 894902 2:29294704-29294704 2:29071838-29071838 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2369A>C (p.Glu790Ala) SNV Uncertain significance 896339 2:29294759-29294759 2:29071893-29071893 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2243G>C (p.Gly748Ala) SNV Uncertain significance 896340 2:29294885-29294885 2:29072019-29072019 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2197A>C (p.Lys733Gln) SNV Uncertain significance 896341 2:29294931-29294931 2:29072065-29072065 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.1892C>T (p.Ala631Val) SNV Uncertain significance 897958 2:29295236-29295236 2:29072370-29072370 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.1775C>T (p.Thr592Met) SNV Uncertain significance 897959 2:29295353-29295353 2:29072487-29072487 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.1545A>G (p.Gln515=) SNV Uncertain significance 899092 2:29295583-29295583 2:29072717-29072717 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.1432G>A (p.Ala478Thr) SNV Uncertain significance 894965 2:29295696-29295696 2:29072830-29072830 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.944G>A (p.Arg315Lys) SNV Uncertain significance 896402 2:29296184-29296184 2:29073318-29073318 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.655G>A (p.Val219Ile) SNV Uncertain significance 896403 2:29296473-29296473 2:29073607-29073607 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.403G>A (p.Glu135Lys) SNV Uncertain significance 898032 2:29296725-29296725 2:29073859-29073859 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.293C>T (p.Thr98Ile) SNV Uncertain significance 898033 2:29296835-29296835 2:29073969-29073969 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.21C>A (p.His7Gln) SNV Uncertain significance 899147 2:29297107-29297107 2:29074241-29074241 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.*1551A>C SNV Uncertain significance 897009 2:62052039-62052039 2:61824904-61824904 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.*1432T>C SNV Uncertain significance 897486 2:62052158-62052158 2:61825023-61825023 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.*1299T>C SNV Uncertain significance 897487 2:62052291-62052291 2:61825156-61825156 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.*1252A>G SNV Uncertain significance 897488 2:62052338-62052338 2:61825203-61825203 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.*795G>A SNV Uncertain significance 898642 2:62052795-62052795 2:61825660-61825660 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.*755G>A SNV Uncertain significance 895659 2:62052835-62052835 2:61825700-61825700 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.*525G>T SNV Uncertain significance 895660 2:62053065-62053065 2:61825930-61825930 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.*523G>A SNV Uncertain significance 895661 2:62053067-62053067 2:61825932-61825932 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.*519C>A SNV Uncertain significance 895662 2:62053071-62053071 2:61825936-61825936 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.*83G>T SNV Uncertain significance 897076 2:62053507-62053507 2:61826372-61826372 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.*44G>C SNV Uncertain significance 897077 2:62053546-62053546 2:61826411-61826411 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.*44G>A SNV Uncertain significance 897078 2:62053546-62053546 2:61826411-61826411 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.2016A>C (p.Glu672Asp) SNV Uncertain significance 897550 2:62053725-62053725 2:61826590-61826590 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.1462T>G (p.Trp488Gly) SNV Uncertain significance 898704 2:62066677-62066677 2:61839542-61839542 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.1368A>G (p.Pro456=) SNV Uncertain significance 898705 2:62066771-62066771 2:61839636-61839636 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.1213G>A (p.Gly405Arg) SNV Uncertain significance 898706 2:62066926-62066926 2:61839791-61839791 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.1212T>G (p.Cys404Trp) SNV Uncertain significance 895728 2:62066927-62066927 2:61839792-61839792 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.1085G>T (p.Arg362Leu) SNV Uncertain significance 895729 2:62067054-62067054 2:61839919-61839919 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.1018A>G (p.Lys340Glu) SNV Uncertain significance 895730 2:62067121-62067121 2:61839986-61839986 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.982A>G (p.Ile328Val) SNV Uncertain significance 896010 2:62067157-62067157 2:61840022-61840022 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.746A>G (p.Gln249Arg) SNV Uncertain significance 896011 2:62067393-62067393 2:61840258-61840258 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.159A>G (p.Lys53=) SNV Uncertain significance 898764 2:62081018-62081018 2:61853883-61853883 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.2T>C (p.Met1Thr) SNV Uncertain significance 898765 2:62081175-62081175 2:61854040-61854040 RTN008 Retinitis Pigmentosa FAM161A NC_000002.12:g.61854122T>A SNV Uncertain significance 898766 2:62081257-62081257 2:61854122-61854122 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.*287C>G SNV Uncertain significance 897824 2:96940463-96940463 2:96274725-96274725 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2225A>G SNV Uncertain significance 894343 19:48345449-48345449 19:47842192-47842192 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2343G>A SNV Uncertain significance 892897 19:48345567-48345567 19:47842310-47842310 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2357G>A SNV Uncertain significance 892898 19:48345581-48345581 19:47842324-47842324 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2402G>T SNV Uncertain significance 893976 19:48345626-48345626 19:47842369-47842369 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2404C>T SNV Uncertain significance 893977 19:48345628-48345628 19:47842371-47842371 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2544G>A SNV Uncertain significance 894375 19:48345768-48345768 19:47842511-47842511 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2580G>A SNV Uncertain significance 892932 19:48345804-48345804 19:47842547-47842547 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2589T>C SNV Uncertain significance 893167 19:48345813-48345813 19:47842556-47842556 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2611G>A SNV Uncertain significance 893168 19:48345835-48345835 19:47842578-47842578 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2935G>T SNV Uncertain significance 893198 19:48346159-48346159 19:47842902-47842902 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2979T>C SNV Uncertain significance 894046 19:48346203-48346203 19:47842946-47842946 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*3077C>G SNV Uncertain significance 894446 19:48346301-48346301 19:47843044-47843044 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*3099C>T SNV Uncertain significance 893016 19:48346323-48346323 19:47843066-47843066 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*498G>A SNV Uncertain significance 892733 19:48343722-48343722 19:47840465-47840465 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*727C>T SNV Uncertain significance 894745 19:48343951-48343951 19:47840694-47840694 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*1223A>G SNV Uncertain significance 893887 19:48344447-48344447 19:47841190-47841190 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*1330C>T SNV Uncertain significance 892826 19:48344554-48344554 19:47841297-47841297 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*79C>T SNV Uncertain significance 894687 19:48343303-48343303 19:47840046-47840046 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*110C>A SNV Uncertain significance 892702 19:48343334-48343334 19:47840077-47840077 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.*403T>C SNV Uncertain significance 887533 15:89753113-89753113 15:89209882-89209882 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.*301T>A SNV Uncertain significance 886398 15:89753215-89753215 15:89209984-89209984 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.*256G>A SNV Uncertain significance 886399 15:89753260-89753260 15:89210029-89210029 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.565G>C (p.Ala189Pro) SNV Uncertain significance 894659 19:48342889-48342889 19:47839632-47839632 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.606C>T (p.Cys202=) SNV Uncertain significance 892657 19:48342930-48342930 19:47839673-47839673 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.616T>C (p.Ser206Pro) SNV Uncertain significance 892658 19:48342940-48342940 19:47839683-47839683 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.651C>T (p.Gly217=) SNV Uncertain significance 892659 19:48342975-48342975 19:47839718-47839718 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.765C>T (p.Gly255=) SNV Uncertain significance 893465 19:48343089-48343089 19:47839832-47839832 RTN008 Retinitis Pigmentosa CA4 NM_000717.5(CA4):c.162C>G (p.Ile54Met) SNV Uncertain significance 890023 17:58233970-58233970 17:60156609-60156609 RTN008 Retinitis Pigmentosa CA4 NM_000717.5(CA4):c.288C>T (p.Asn96=) SNV Uncertain significance 891579 17:58234807-58234807 17:60157446-60157446 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.*190T>C SNV Uncertain significance 892707 19:54635053-54635053 19:54131622-54131622 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.583+8C>T SNV Uncertain significance 894700 2:112702645-112702645 2:111945068-111945068 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.-9+3G>A SNV Uncertain significance 893745 19:54619180-54619180 19:54115800-54115800 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.177+4A>T SNV Uncertain significance 894662 19:54621839-54621839 19:54118459-54118459 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.239-12G>A SNV Uncertain significance 894663 19:54625227-54625227 19:54121848-54121848 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.420+11A>G SNV Uncertain significance 894664 19:54625984-54625984 19:54122605-54122605 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.421-9C>T SNV Uncertain significance 892663 19:54626824-54626824 19:54123445-54123445 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.945+4A>G SNV Uncertain significance 893772 19:54629996-54629996 19:54126621-54126621 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*1371C>T SNV Uncertain significance 898731 2:182401540-182401540 2:181536813-181536813 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*1324G>A SNV Uncertain significance 895763 2:182401587-182401587 2:181536860-181536860 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*1212A>G SNV Uncertain significance 895764 2:182401699-182401699 2:181536972-181536972 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*1207C>G SNV Uncertain significance 895765 2:182401704-182401704 2:181536977-181536977 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*1023G>A SNV Uncertain significance 896046 2:182401888-182401888 2:181537161-181537161 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*979C>T SNV Uncertain significance 896047 2:182401932-182401932 2:181537205-181537205 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*573A>G SNV Uncertain significance 897632 2:182402338-182402338 2:181537611-181537611 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.33C>T (p.Leu11=) SNV Uncertain significance 893746 19:54621691-54621691 19:54118311-54118311 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.429C>T (p.Gly143=) SNV Uncertain significance 892664 19:54626841-54626841 19:54123462-54123462 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.504C>T (p.Ser168=) SNV Uncertain significance 892665 19:54626916-54626916 19:54123537-54123537 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.509C>T (p.Thr170Ile) SNV Uncertain significance 892666 19:54626921-54626921 19:54123542-54123542 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.510C>T (p.Thr170=) SNV Uncertain significance 892667 19:54626922-54626922 19:54123543-54123543 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.557G>A (p.Arg186Gln) SNV Uncertain significance 892668 19:54627157-54627157 19:54123778-54123778 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.582G>A (p.Ala194=) SNV Uncertain significance 893467 19:54627182-54627182 19:54123803-54123803 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.594C>T (p.Asn198=) SNV Uncertain significance 893468 19:54627194-54627194 19:54123815-54123815 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.706G>A (p.Gly236Ser) SNV Uncertain significance 893469 19:54627886-54627886 19:54124507-54124507 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.921T>C (p.Ser307=) SNV Uncertain significance 893470 19:54629968-54629968 19:54126593-54126593 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.976C>T (p.Arg326Cys) SNV Uncertain significance 893773 19:54631478-54631478 19:54128103-54128103 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.1239C>T (p.Asn413=) SNV Uncertain significance 894692 19:54632524-54632524 19:54129149-54129149 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*306C>T SNV Uncertain significance 898798 2:182402605-182402605 2:181537878-181537878 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*237G>A SNV Uncertain significance 898799 2:182402674-182402674 2:181537947-181537947 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*160T>G SNV Uncertain significance 898800 2:182402751-182402751 2:181538024-181538024 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*77G>T SNV Uncertain significance 895833 2:182402834-182402834 2:181538107-181538107 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*25G>T SNV Uncertain significance 895834 2:182402886-182402886 2:181538159-181538159 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.1596G>A (p.Lys532=) SNV Uncertain significance 895835 2:182402914-182402914 2:181538187-181538187 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.1548A>C (p.Pro516=) SNV Uncertain significance 895836 2:182402962-182402962 2:181538235-181538235 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.1543C>T (p.His515Tyr) SNV Uncertain significance 895837 2:182402967-182402967 2:181538240-181538240 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.1237G>T (p.Val413Leu) SNV Uncertain significance 896112 2:182412376-182412376 2:181547649-181547649 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.783T>C (p.Pro261=) SNV Uncertain significance 897708 2:182423330-182423330 2:181558603-181558603 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.770G>A (p.Arg257Gln) SNV Uncertain significance 898865 2:182423343-182423343 2:181558616-181558616 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.180C>T (p.Asp60=) SNV Uncertain significance 895897 2:182521554-182521554 2:181656827-181656827 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.-23C>A SNV Uncertain significance 896179 2:182521756-182521756 2:181657029-181657029 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.-71G>T SNV Uncertain significance 896180 2:182521804-182521804 2:181657077-181657077 RTN008 Retinitis Pigmentosa BBS7 NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys) SNV Uncertain significance 434498 rs150743868 4:122756435-122756435 4:121835280-121835280 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.1310G>T (p.Trp437Leu) SNV Uncertain significance 422074 rs762935052 4:47939201-47939201 4:47937184-47937184 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.135C>G (p.Cys45Trp) SNV Uncertain significance 418147 rs145141811 1:197297616-197297616 1:197328486-197328486 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser) SNV Uncertain significance 438076 rs910489135 1:197397094-197397094 1:197427964-197427964 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.9958G>T (p.Gly3320Cys) SNV Uncertain significance 438037 rs1285853856 1:215972249-215972249 1:215798907-215798907 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.13274C>T (p.Thr4425Met) SNV Uncertain significance 438011 rs201238640 1:215847979-215847979 1:215674637-215674637 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.13126T>G (p.Trp4376Gly) SNV Uncertain significance 438010 rs775490668 1:215848127-215848127 1:215674785-215674785 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.12695C>A (p.Pro4232Gln) SNV Uncertain significance 438007 rs745371873 1:215848558-215848558 1:215675216-215675216 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.11700C>A (p.Tyr3900Ter) SNV Uncertain significance 438005 rs1553257498 1:215914728-215914728 1:215741386-215741386 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.9860_9873del (p.His3287fs) deletion Uncertain significance 438035 rs1388040238 1:215972334-215972347 1:215798992-215799005 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.4027A>C (p.Asn1343His) SNV Uncertain significance 438020 rs754634823 1:216371711-216371711 1:216198369-216198369 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.4618G>A (p.Asp1540Asn) SNV Uncertain significance 438022 rs752238803 1:216348603-216348603 1:216175261-216175261 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.8884C>A (p.Leu2962Ile) SNV Uncertain significance 438030 rs761359720 1:216019337-216019337 1:215845995-215845995 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.8851C>G (p.Gln2951Glu) SNV Uncertain significance 438029 rs201394390 1:216019370-216019370 1:215846028-215846028 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.8284C>G (p.Pro2762Ala) SNV Uncertain significance 438028 rs1188281491 1:216052380-216052380 1:215879038-215879038 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1002+5G>A SNV Uncertain significance 438212 rs1196489060 4:16019941-16019941 4:16018318-16018318 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.613+4_613+5del deletion Uncertain significance 438055 rs766131721 2:182438475-182438476 2:181573748-181573749 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.613C>T (p.Pro205Ser) SNV Uncertain significance 438202 rs1554202833 6:66204691-66204691 6:65494798-65494798 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.422T>C (p.Val141Ala) SNV Uncertain significance 438050 rs1554286384 7:23164771-23164771 7:23125152-23125152 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2000G>A (p.Arg667His) SNV Uncertain significance 438193 rs549456693 6:66005779-66005779 6:65295886-65295886 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.8618A>G (p.Asp2873Gly) SNV Uncertain significance 438210 rs1554163939 6:64431309-64431309 6:63721413-63721413 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.8368A>G (p.Arg2790Gly) SNV Uncertain significance 438209 rs1554163993 6:64431559-64431559 6:63721663-63721663 RTN008 Retinitis Pigmentosa CLN3 NM_000086.2(CLN3):c.853A>G (p.Ile285Val) SNV Uncertain significance 438225 rs748844685 16:28493851-28493851 16:28482530-28482530 RTN008 Retinitis Pigmentosa CEP290 NM_025114.4(CEP290):c.2390del (p.Lys797fs) deletion Uncertain significance 438223 rs781670422 12:88502936-88502936 12:88109159-88109159 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.85C>T (p.Arg29Trp) SNV Uncertain significance 498446 rs201706430 2:29297043-29297043 2:29074177-29074177 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.2069C>T (p.Thr690Ile) SNV Uncertain significance 497907 rs139822416 2:112767633-112767633 2:112010056-112010056 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.269A>G (p.Asn90Ser) SNV Uncertain significance 522286 rs199731969 8:96272735-96272735 8:95260507-95260507 RTN008 Retinitis Pigmentosa ROM1 NM_000327.3(ROM1):c.859C>T (p.Arg287Trp) SNV Uncertain significance 522904 rs768652143 11:62382114-62382114 11:62614642-62614642 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.74C>T (p.Ser25Leu) SNV Uncertain significance 450158 rs61758066 9:32550896-32550896 9:32550898-32550898 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2603G>A (p.Gly868Asp) SNV Uncertain significance 493184 rs770961534 16:57938669-57938669 16:57904765-57904765 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala) SNV Uncertain significance 444685 rs772888249 6:64430535-64430535 6:63720639-63720639 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.6902T>C (p.Leu2301Ser) SNV Uncertain significance 554116 rs759494205 1:216144022-216144022 1:215970680-215970680 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.14570G>C (p.Gly4857Ala) SNV Uncertain significance 558160 rs749889050 1:215821882-215821882 1:215648540-215648540 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.13339A>G (p.Met4447Val) SNV Uncertain significance 554155 rs139474806 1:215847914-215847914 1:215674572-215674572 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.12268C>A (p.Pro4090Thr) SNV Uncertain significance 550401 rs780893919 1:215853517-215853517 1:215680175-215680175 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.5489-2A>G SNV Uncertain significance 523503 rs1553439227 2:96944098-96944098 2:96278360-96278360 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.3133C>A (p.Pro1045Thr) SNV Uncertain significance 523502 rs745733409 2:96954816-96954816 2:96289078-96289078 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp) SNV Uncertain significance 531831 rs140698625 14:89338776-89338776 14:88872432-88872432 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly) SNV Uncertain significance 523415 rs1554163965 6:64431408-64431408 6:63721512-63721512 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.4152del (p.Pro1385fs) deletion Uncertain significance 523414 rs1185686653 6:65301608-65301608 6:64591715-64591715 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.2666A>G (p.His889Arg) SNV Uncertain significance 523487 rs762457246 9:32541857-32541857 9:32541859-32541859 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.1379G>C (p.Gly460Ala) SNV Uncertain significance 523486 rs146483990 9:32543144-32543144 9:32543146-32543146 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.1481A>G (p.Tyr494Cys) SNV Uncertain significance 555113 rs898430789 1:216496885-216496885 1:216323543-216323543 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.3176C>T (p.Pro1059Leu) SNV Uncertain significance 552332 rs547581739 1:216380755-216380755 1:216207413-216207413 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.1678C>G (p.Pro560Ala) SNV Uncertain significance 551338 rs147509797 1:216465679-216465679 1:216292337-216292337 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.2653C>T (p.His885Tyr) SNV Uncertain significance 550419 rs746071929 1:216420083-216420083 1:216246741-216246741 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser) SNV Uncertain significance 551873 rs142450703 6:66005927-66005927 6:65296034-65296034 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1459+5C>T SNV Uncertain significance 551928 rs200387978 6:66063346-66063346 6:65353453-65353453 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.6632C>T (p.Ser2211Leu) SNV Uncertain significance 555265 rs145623359 6:64776324-64776324 6:64066431-64066431 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.4891C>T (p.Pro1631Ser) SNV Uncertain significance 554129 rs200935518 6:65300869-65300869 6:64590976-64590976 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.4721T>C (p.Ile1574Thr) SNV Uncertain significance 618377 rs199736893 2:96949315-96949315 2:96283577-96283577 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.103G>A (p.Asp35Asn) SNV Uncertain significance 618781 rs374847529 5:149324134-149324134 5:149944571-149944571 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.356del (p.Gly119fs) deletion Uncertain significance 631835 rs1559100189 2:182468689-182468689 2:181603962-181603962 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3652C>T (p.Gln1218Ter) SNV Uncertain significance 632359 rs1558487417 2:29293476-29293476 2:29070610-29070610 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3090dup (p.Ser1031fs) duplication Uncertain significance 632360 rs1558488002 2:29294037-29294038 2:29071171-29071172 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2175T>A (p.Cys725Ter) SNV Uncertain significance 632361 rs1187627005 2:29294953-29294953 2:29072087-29072087 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.1346G>A (p.Arg449His) SNV Uncertain significance 631593 rs766715882 1:216497020-216497020 1:216323678-216323678 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.1783dup (p.Glu595fs) duplication Uncertain significance 631825 rs1337364058 2:112760760-112760761 2:112003183-112003184 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.2957del (p.Leu986fs) deletion Uncertain significance 632326 rs763144375 2:112786395-112786395 2:112028818-112028818 RTN008 Retinitis Pigmentosa AHI1 NM_001134831.2(AHI1):c.2258A>T (p.Asp753Val) SNV Uncertain significance 560427 rs1562758269 6:135754173-135754173 6:135433035-135433035 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.1433C>T (p.Thr478Ile) SNV Uncertain significance 560464 rs564132747 7:128035060-128035060 7:128395006-128395006 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.152T>C (p.Ile51Thr) SNV Uncertain significance 560489 rs104894473 14:68191273-68191273 14:67724556-67724556 RTN008 Retinitis Pigmentosa VSX2 NM_182894.3(VSX2):c.455G>A (p.Arg152Lys) SNV Uncertain significance 560529 rs1566883262 14:74707969-74707969 14:74241266-74241266 RTN008 Retinitis Pigmentosa CACNA1F NM_001256789.3(CACNA1F):c.2968G>A (p.Gly990Arg) SNV Uncertain significance 560432 rs782473510 X:49074425-49074425 X:49217966-49217966 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.1219A>C (p.Ile407Leu) SNV Uncertain significance 594105 rs747024040 2:182412394-182412394 2:181547667-181547667 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.1451G>C (p.Gly484Ala) SNV Uncertain significance 596486 rs148744804 1:156144893-156144893 1:156175102-156175102 RTN008 Retinitis Pigmentosa CNGB3 NM_019098.4(CNGB3):c.1672G>T (p.Gly558Cys) SNV Uncertain significance 554831 rs749413012 8:87616430-87616430 8:86604202-86604202 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.3684+2T>A SNV Uncertain significance 632493 rs1562094391 6:65327309-65327309 6:64617416-64617416 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.3245+1del deletion Uncertain significance 632135 rs868975969 10:48385846-48385846 10:47353515-47353515 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.358+1G>A SNV Uncertain significance 632141 rs548051515 10:86008800-86008800 10:84249044-84249044 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.630+2T>A SNV Uncertain significance 632142 rs775282095 10:86014201-86014201 10:84254445-84254445 RTN008 Retinitis Pigmentosa NRL NM_006177.5(NRL):c.-27-2A>G SNV Uncertain significance 631709 rs771932471 14:24552086-24552086 14:24082877-24082877 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.534+1G>A SNV Uncertain significance 631755 rs200862689 16:57994743-57994743 16:57960839-57960839 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.768+1G>T SNV Uncertain significance 632372 rs1568548317 20:2640908-2640908 20:2660262-2660262 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.7394C>G (p.Thr2465Ser) SNV Uncertain significance 632068 rs145184183 6:64516100-64516100 6:63806207-63806207 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1871C>T (p.Ser624Leu) SNV Uncertain significance 632494 rs548565748 6:66005908-66005908 6:65296015-65296015 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.732T>A (p.Cys244Ter) SNV Uncertain significance 631986 rs1562220891 6:66204572-66204572 6:65494679-65494679 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.616C>T (p.Gln206Ter) SNV Uncertain significance 632501 rs1562571985 7:23180561-23180561 7:23140942-23140942 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.4897G>T (p.Glu1633Ter) SNV Uncertain significance 632522 rs982929068 8:55541339-55541339 8:54628779-54628779 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.6119C>A (p.Ser2040Ter) SNV Uncertain significance 632523 rs1563333726 8:55542561-55542561 8:54630001-54630001 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.6423dup (p.Leu2142fs) duplication Uncertain significance 632524 rs1563333973 8:55542864-55542865 8:54630304-54630305 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1351_1352insTCGTC (p.Ser451fs) insertion Uncertain significance 632136 rs781889777 10:48389526-48389527 10:47349835-47349836 RTN008 Retinitis Pigmentosa ROM1 NM_000327.3(ROM1):c.180dup (p.Val61fs) duplication Uncertain significance 632164 rs748976215 11:62380932-62380933 11:62613460-62613461 RTN008 Retinitis Pigmentosa NRL NM_006177.5(NRL):c.16del (p.Ser6fs) deletion Uncertain significance 631708 rs759747780 14:24552042-24552042 14:24082833-24082833 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.417C>A (p.Cys139Ter) SNV Uncertain significance 631756 rs1346391067 16:57996510-57996510 16:57962606-57962606 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.1927C>T (p.Arg643Ter) SNV Uncertain significance 631945 rs750954043 4:47938584-47938584 4:47936567-47936567 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.828dup (p.Arg277fs) duplication Uncertain significance 631946 rs767994904 4:47939682-47939683 4:47937665-47937666 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.232C>T (p.Gln78Ter) SNV Uncertain significance 631947 rs1490804242 4:47953374-47953374 4:47951357-47951357 RTN008 Retinitis Pigmentosa MAK NM_001242957.3(MAK):c.1698C>A (p.Tyr566Ter) SNV Uncertain significance 632469 rs186643840 6:10770438-10770438 6:10770205-10770205 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.508T>C (p.Tyr170His) SNV Uncertain significance 636131 1:197297989-197297989 1:197328859-197328859 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.11714G>A (p.Arg3905His) SNV Uncertain significance 636113 1:215901724-215901724 1:215728382-215728382 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.9503G>T (p.Cys3168Phe) SNV Uncertain significance 636130 1:215990406-215990406 1:215817064-215817064 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.13123T>G (p.Cys4375Gly) SNV Uncertain significance 636115 1:215848130-215848130 1:215674788-215674788 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.203T>G (p.Leu68Arg) SNV Uncertain significance 636082 3:129247779-129247779 3:129528936-129528936 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.6728G>T (p.Gly2243Val) SNV Uncertain significance 636126 1:216166439-216166439 1:215993097-215993097 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.4146G>C (p.Trp1382Cys) SNV Uncertain significance 636120 1:216370000-216370000 1:216196658-216196658 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.5074G>T (p.Asp1692Tyr) SNV Uncertain significance 636122 1:216258133-216258133 1:216084791-216084791 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp) SNV Uncertain significance 636032 6:64430583-64430583 6:63720687-63720687 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu) SNV Uncertain significance 636026 6:65622490-65622490 6:64912597-64912597 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.697G>T (p.Val233Phe) SNV Uncertain significance 636080 14:68195946-68195946 14:67729229-67729229 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2023+5G>T SNV Uncertain significance 636024 6:66005751-66005751 6:65295858-65295858 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.1833-3C>G SNV Uncertain significance 636059 4:656886-656886 4:663097-663097 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.1495+6T>C SNV Uncertain significance 636207 6:35467752-35467752 6:35499975-35499975 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.6480_6491del (p.Gly2161_Pro2164del) deletion Uncertain significance 636191 17:1554961-1554972 17:1651667-1651678 RTN008 Retinitis Pigmentosa GPR179 NM_001004334.3:c.4841_4843del short repeat Uncertain significance 636173 17:36484609-36484611 17:38328726-38328728 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.1222C>T (p.Arg408Trp) SNV Uncertain significance 636190 19:54632507-54632507 19:54129132-54129132 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.492G>T (p.Trp164Cys) SNV Uncertain significance 636203 X:38176696-38176696 X:38317443-38317443 RTN008 Retinitis Pigmentosa MYO7A NM_000260.4(MYO7A):c.5929C>T (p.Arg1977Trp) SNV Uncertain significance 636222 11:76919547-76919547 11:77208502-77208502 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.578G>C (p.Arg193Pro) SNV Uncertain significance 636200 8:55534104-55534104 8:54621544-54621544 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.652T>C (p.Ser218Pro) SNV Uncertain significance 636194 6:42672279-42672279 6:42704541-42704541 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.517G>A (p.Asp173Asn) SNV Uncertain significance 636193 6:42689556-42689556 6:42721818-42721818 RTN008 Retinitis Pigmentosa CEP290 NM_025114.4(CEP290):c.2691A>G (p.Ile897Met) SNV Uncertain significance 636217 12:88500578-88500578 12:88106801-88106801 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.433G>A (p.Ala145Thr) SNV Uncertain significance 636206 14:89307484-89307484 14:88841140-88841140 RTN008 Retinitis Pigmentosa TRPM1 NM_001252024.2(TRPM1):c.1414C>T (p.Arg472Trp) SNV Uncertain significance 636226 15:31342635-31342635 15:31050432-31050432 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2085T>A (p.Asp695Glu) SNV Uncertain significance 636165 16:57951253-57951253 16:57917349-57917349 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.976G>C (p.Gly326Arg) SNV Uncertain significance 636164 16:57984343-57984343 16:57950439-57950439 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.965C>T (p.Thr322Ile) SNV Uncertain significance 636218 16:57984354-57984354 16:57950450-57950450 RTN008 Retinitis Pigmentosa ADGRA3 NM_145290.4(ADGRA3):c.2392C>T (p.Leu798Phe) SNV Uncertain significance 636172 4:22403143-22403143 4:22401520-22401520 RTN008 Retinitis Pigmentosa RAB28 NM_001017979.3(RAB28):c.55G>A (p.Gly19Arg) SNV Uncertain significance 636195 4:13485720-13485720 4:13484096-13484096 RTN008 Retinitis Pigmentosa GNAT1 NM_144499.3(GNAT1):c.107G>A (p.Gly36Asp) SNV Uncertain significance 636171 3:50230566-50230566 3:50193133-50193133 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.329A>G (p.Asp110Gly) SNV Uncertain significance 636202 1:68910483-68910483 1:68444800-68444800 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3676G>A (p.Glu1226Lys) SNV Uncertain significance 636214 2:29287926-29287926 2:29065060-29065060 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.3101A>T (p.His1034Leu) SNV Uncertain significance 636198 8:55539543-55539543 8:54626983-54626983 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.4642A>T (p.Ser1548Cys) SNV Uncertain significance 636199 8:55541084-55541084 8:54628524-54628524 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.5805T>G (p.Phe1935Leu) SNV Uncertain significance 636225 8:55542247-55542247 8:54629687-54629687 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.2873A>T (p.Glu958Val) SNV Uncertain significance 636205 9:32541650-32541650 9:32541652-32541652 RTN008 Retinitis Pigmentosa CDH23 NM_022124.6(CDH23):c.2767G>A (p.Gly923Ser) SNV Uncertain significance 636216 10:73464701-73464701 10:71704944-71704944 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.1063C>T (p.Arg355Cys) SNV Uncertain significance 636154 11:61727478-61727478 11:61960006-61960006 RTN008 Retinitis Pigmentosa BBS1 NM_024649.5(BBS1):c.1660A>T (p.Ser554Cys) SNV Uncertain significance 636150 11:66299178-66299178 11:66531707-66531707 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.10010G>T (p.Cys3337Phe) SNV Uncertain significance 636210 1:215963573-215963573 1:215790231-215790231 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.9346C>A (p.Pro3116Thr) SNV Uncertain significance 636228 1:216011358-216011358 1:215838016-215838016 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.700G>A (p.Ala234Thr) SNV Uncertain significance 802598 10:86017718-86017718 10:84257962-84257962 RTN008 Retinitis Pigmentosa CRX NM_000554.4:c.(?_-1)_(*1_?)dup duplication Uncertain significance 636230 RTN008 Retinitis Pigmentosa MYO7A NM_000260.4(MYO7A):c.3503+12G>A SNV Uncertain significance 636182 11:76895772-76895772 11:77184727-77184727 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.893G>C (p.Arg298Pro) SNV Uncertain significance 645460 1:26795513-26795513 1:26469022-26469022 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.78A>T (p.Thr26=) SNV Uncertain significance 885501 15:89761859-89761859 15:89218628-89218628 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.-169T>A SNV Uncertain significance 887774 15:89763036-89763036 15:89219805-89219805 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*1810T>G SNV Uncertain significance 885982 16:57916258-57916258 16:57882354-57882354 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*1800C>T SNV Uncertain significance 885983 16:57916268-57916268 16:57882364-57882364 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*1741T>C SNV Uncertain significance 886976 16:57916327-57916327 16:57882423-57882423 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*1680T>C SNV Uncertain significance 886977 16:57916388-57916388 16:57882484-57882484 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*1676A>G SNV Uncertain significance 886978 16:57916392-57916392 16:57882488-57882488 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*1637C>T SNV Uncertain significance 886980 16:57916431-57916431 16:57882527-57882527 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*1518T>G SNV Uncertain significance 886981 16:57916550-57916550 16:57882646-57882646 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*1508C>T SNV Uncertain significance 888244 16:57916560-57916560 16:57882656-57882656 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*1148C>T SNV Uncertain significance 888245 16:57916920-57916920 16:57883016-57883016 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*1085A>G SNV Uncertain significance 885138 16:57916983-57916983 16:57883079-57883079 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*980C>T SNV Uncertain significance 885139 16:57917088-57917088 16:57883184-57883184 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*954T>C SNV Uncertain significance 885140 16:57917114-57917114 16:57883210-57883210 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*837C>T SNV Uncertain significance 886045 16:57917231-57917231 16:57883327-57883327 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.*212G>A SNV Uncertain significance 887404 15:89753304-89753304 15:89210073-89210073 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.*135G>A SNV Uncertain significance 884446 15:89753381-89753381 15:89210150-89210150 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.924C>A (p.Pro308=) SNV Uncertain significance 884447 15:89753546-89753546 15:89210315-89210315 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.839T>C (p.Ile280Thr) SNV Uncertain significance 885370 15:89753631-89753631 15:89210400-89210400 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.701G>A (p.Arg234Gln) SNV Uncertain significance 887653 15:89754024-89754024 15:89210793-89210793 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.626T>C (p.Met209Thr) SNV Uncertain significance 884503 15:89755032-89755032 15:89211801-89211801 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.228G>C (p.Ser76=) SNV Uncertain significance 887714 15:89760469-89760469 15:89217238-89217238 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.428C>T (p.Pro143Leu) SNV Uncertain significance 888478 15:72104373-72104373 15:71812033-71812033 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.844G>A (p.Glu282Lys) SNV Uncertain significance 887280 15:72105825-72105825 15:71813485-71813485 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.*54G>A SNV Uncertain significance 886340 15:72110079-72110079 15:71817738-71817738 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.*330C>G SNV Uncertain significance 887531 15:72110355-72110355 15:71818014-71818014 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.*400G>C SNV Uncertain significance 887532 15:72110425-72110425 15:71818084-71818084 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.*431C>T SNV Uncertain significance 884375 15:72110456-72110456 15:71818115-71818115 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.*489A>G SNV Uncertain significance 884376 15:72110514-72110514 15:71818173-71818173 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.*546A>G SNV Uncertain significance 884377 15:72110571-72110571 15:71818230-71818230 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.*377C>T SNV Uncertain significance 885929 14:89344131-89344131 14:88877787-88877787 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.*418G>A SNV Uncertain significance 885930 14:89344172-89344172 14:88877828-88877828 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.*387T>C SNV Uncertain significance 882450 14:68200952-68200952 14:67734235-67734235 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.*476C>A SNV Uncertain significance 882451 14:68201041-68201041 14:67734324-67734324 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.*557C>T SNV Uncertain significance 882452 14:68201122-68201122 14:67734405-67734405 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.24G>A (p.Leu8=) SNV Uncertain significance 885248 15:72103107-72103107 15:71810767-71810767 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.143G>A (p.Arg48His) SNV Uncertain significance 886142 15:72103847-72103847 15:71811507-71811507 RTN008 Retinitis Pigmentosa ROM1 NM_000327.4(ROM1):c.577C>G (p.Arg193Gly) SNV Uncertain significance 879374 11:62381330-62381330 11:62613858-62613858 RTN008 Retinitis Pigmentosa ROM1 NM_000327.4(ROM1):c.667C>T (p.Arg223Trp) SNV Uncertain significance 879376 11:62381806-62381806 11:62614334-62614334 RTN008 Retinitis Pigmentosa ROM1 NM_000327.4(ROM1):c.926A>C (p.Tyr309Ser) SNV Uncertain significance 879755 11:62382181-62382181 11:62614709-62614709 RTN008 Retinitis Pigmentosa ROM1 NM_000327.4(ROM1):c.950A>G (p.Asp317Gly) SNV Uncertain significance 879756 11:62382205-62382205 11:62614733-62614733 RTN008 Retinitis Pigmentosa ROM1 NM_000327.4(ROM1):c.974A>C (p.Gln325Pro) SNV Uncertain significance 879757 11:62382229-62382229 11:62614757-62614757 RTN008 Retinitis Pigmentosa ROM1 NM_000327.4(ROM1):c.*109G>A SNV Uncertain significance 877792 11:62382420-62382420 11:62614948-62614948 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.359-15C>A SNV Uncertain significance 879654 10:86012598-86012598 10:84252842-84252842 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.745-13T>C SNV Uncertain significance 877223 10:86018251-86018251 10:84258495-84258495 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.245A>G (p.Asp82Gly) SNV Uncertain significance 886634 14:88883061-88883061 14:88416717-88416717 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.429T>G (p.Phe143Leu) SNV Uncertain significance 884738 14:88892632-88892632 14:88426288-88426288 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.605G>A (p.Arg202Lys) SNV Uncertain significance 885673 14:88892808-88892808 14:88426464-88426464 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.654G>T (p.Ser218=) SNV Uncertain significance 885674 14:88892857-88892857 14:88426513-88426513 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.716C>T (p.Pro239Leu) SNV Uncertain significance 885675 14:88892919-88892919 14:88426575-88426575 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.890A>T (p.Asp297Val) SNV Uncertain significance 886685 14:88894018-88894018 14:88427674-88427674 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.937G>A (p.Ala313Thr) SNV Uncertain significance 886686 14:88895716-88895716 14:88429372-88429372 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.1144G>T (p.Gly382Cys) SNV Uncertain significance 884798 14:88899540-88899540 14:88433196-88433196 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.1236G>A (p.Leu412=) SNV Uncertain significance 884799 14:88904202-88904202 14:88437858-88437858 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.1283T>G (p.Val428Gly) SNV Uncertain significance 885732 14:88904249-88904249 14:88437905-88437905 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.1476C>A (p.Phe492Leu) SNV Uncertain significance 886739 14:88904442-88904442 14:88438098-88438098 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.1611T>C (p.Ser537=) SNV Uncertain significance 886740 14:88904577-88904577 14:88438233-88438233 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.1717A>G (p.Lys573Glu) SNV Uncertain significance 884872 14:88904683-88904683 14:88438339-88438339 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.305C>T (p.Thr102Ile) SNV Uncertain significance 886804 14:89307248-89307248 14:88840904-88840904 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.417C>G (p.Ile139Met) SNV Uncertain significance 886805 14:89307468-89307468 14:88841124-88841124 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.640G>A (p.Ala214Thr) SNV Uncertain significance 888085 14:89319330-89319330 14:88852986-88852986 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.800T>A (p.Val267Asp) SNV Uncertain significance 884950 14:89327567-89327567 14:88861223-88861223 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.950A>C (p.Glu317Ala) SNV Uncertain significance 884951 14:89336443-89336443 14:88870099-88870099 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.1042T>C (p.Phe348Leu) SNV Uncertain significance 884952 14:89336535-89336535 14:88870191-88870191 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.*17A>G SNV Uncertain significance 888137 14:89343771-89343771 14:88877427-88877427 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.*45A>C SNV Uncertain significance 888138 14:89343799-89343799 14:88877455-88877455 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.*57C>T SNV Uncertain significance 885015 14:89343811-89343811 14:88877467-88877467 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.*92C>T SNV Uncertain significance 885016 14:89343846-89343846 14:88877502-88877502 RTN008 Retinitis Pigmentosa ROM1 NM_153265.3(EML3):c.-283G>A SNV Uncertain significance 879335 11:62380212-62380212 11:62612740-62612740 RTN008 Retinitis Pigmentosa ROM1 NM_000327.4(ROM1):c.590+13C>A SNV Uncertain significance 879375 11:62381356-62381356 11:62613884-62613884 RTN008 Retinitis Pigmentosa NRL NM_001354768.3(NRL):c.*864G>A SNV Uncertain significance 884148 14:24549581-24549581 14:24080372-24080372 RTN008 Retinitis Pigmentosa NRL NM_001354768.3(NRL):c.*778C>T SNV Uncertain significance 880864 14:24549667-24549667 14:24080458-24080458 RTN008 Retinitis Pigmentosa NRL NM_001354768.3(NRL):c.*673C>A SNV Uncertain significance 880865 14:24549772-24549772 14:24080563-24080563 RTN008 Retinitis Pigmentosa NRL NM_001354768.3(NRL):c.*301A>T SNV Uncertain significance 882237 14:24550144-24550144 14:24080935-24080935 RTN008 Retinitis Pigmentosa NRL NM_001354768.3(NRL):c.645C>T (p.Tyr215=) SNV Uncertain significance 882486 14:24550514-24550514 14:24081305-24081305 RTN008 Retinitis Pigmentosa NRL NM_001354768.3(NRL):c.425T>C (p.Val142Ala) SNV Uncertain significance 882487 14:24550734-24550734 14:24081525-24081525 RTN008 Retinitis Pigmentosa NRL NM_001354768.3(NRL):c.407C>T (p.Ala136Val) SNV Uncertain significance 882488 14:24550752-24550752 14:24081543-24081543 RTN008 Retinitis Pigmentosa NRL NM_001354768.3(NRL):c.227C>T (p.Ala76Val) SNV Uncertain significance 882489 14:24551831-24551831 14:24082622-24082622 RTN008 Retinitis Pigmentosa NRL NM_001354768.3(NRL):c.227C>G (p.Ala76Gly) SNV Uncertain significance 884209 14:24551831-24551831 14:24082622-24082622 RTN008 Retinitis Pigmentosa NRL NM_001354768.3(NRL):c.-27-1663C>T SNV Uncertain significance 884210 14:24553747-24553747 14:24084538-24084538 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.-114G>A SNV Uncertain significance 884101 14:68189246-68189246 14:67722529-67722529 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.719A>G (p.His240Arg) SNV Uncertain significance 882200 14:68195968-68195968 14:67729251-67729251 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.*230A>C SNV Uncertain significance 882446 14:68200795-68200795 14:67734078-67734078 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.*310T>C SNV Uncertain significance 882448 14:68200875-68200875 14:67734158-67734158 RTN008 Retinitis Pigmentosa BEST1 NM_002032.3(FTH1):c.*336A>G SNV Uncertain significance 880474 11:61731863-61731863 11:61964391-61964391 RTN008 Retinitis Pigmentosa FTH1 NM_002032.3(FTH1):c.*336A>G SNV Uncertain significance 880474 11:61731863-61731863 11:61964391-61964391 RTN008 Retinitis Pigmentosa ROM1 NM_153265.3(EML3):c.-298C>T SNV Uncertain significance 879336 11:62380227-62380227 11:62612755-62612755 RTN008 Retinitis Pigmentosa ROM1 NC_000011.10:g.62613045G>T SNV Uncertain significance 880525 11:62380517-62380517 11:62613045-62613045 RTN008 Retinitis Pigmentosa ROM1 NM_000327.4(ROM1):c.167C>G (p.Ser56Cys) SNV Uncertain significance 877753 11:62380920-62380920 11:62613448-62613448 RTN008 Retinitis Pigmentosa ROM1 NM_000327.4(ROM1):c.230G>A (p.Gly77Glu) SNV Uncertain significance 878784 11:62380983-62380983 11:62613511-62613511 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.1067G>T (p.Arg356Leu) SNV Uncertain significance 879188 11:61727482-61727482 11:61960010-61960010 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.1267G>A (p.Glu423Lys) SNV Uncertain significance 877632 11:61729893-61729893 11:61962421-61962421 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.4627+36C>T SNV Uncertain significance 876035 1:216348558-216348558 1:216175216-216175216 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.*226C>G SNV Uncertain significance 880450 10:48381679-48381679 10:47357683-47357683 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.*266C>G SNV Uncertain significance 880449 10:48381639-48381639 10:47357723-47357723 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.612G>A (p.Gly204=) SNV Uncertain significance 880021 10:86014181-86014181 10:84254425-84254425 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.666C>T (p.Leu222=) SNV Uncertain significance 880022 10:86017684-86017684 10:84257928-84257928 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.750C>A (p.Pro250=) SNV Uncertain significance 877224 10:86018269-86018269 10:84258513-84258513 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.*89C>T SNV Uncertain significance 877225 10:86018484-86018484 10:84258728-84258728 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.*331C>A SNV Uncertain significance 878263 10:86018726-86018726 10:84258970-84258970 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.*386C>T SNV Uncertain significance 878264 10:86018781-86018781 10:84259025-84259025 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.*514T>C SNV Uncertain significance 878265 10:86018909-86018909 10:84259153-84259153 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.229C>A (p.Pro77Thr) SNV Uncertain significance 877527 11:61722655-61722655 11:61955183-61955183 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.302C>T (p.Pro101Leu) SNV Uncertain significance 877528 11:61723244-61723244 11:61955772-61955772 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.822C>T (p.Pro274=) SNV Uncertain significance 877569 11:61725725-61725725 11:61958253-61958253 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.1972-4C>T SNV Uncertain significance 875304 1:216424444-216424444 1:216251102-216251102 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.-204-15G>A SNV Uncertain significance 873582 1:216595897-216595897 1:216422555-216422555 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.1129-5C>T SNV Uncertain significance 875116 1:68897273-68897273 1:68431590-68431590 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.859-11C>T SNV Uncertain significance 874235 1:68904775-68904775 1:68439092-68439092 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.858+6T>C SNV Uncertain significance 874236 1:68904868-68904868 1:68439185-68439185 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.-83G>A SNV Uncertain significance 879770 10:48390960-48390960 10:47348402-47348402 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.579C>T (p.Ile193=) SNV Uncertain significance 879385 10:48390299-48390299 10:47349063-47349063 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.590A>G (p.Asp197Gly) SNV Uncertain significance 879384 10:48390288-48390288 10:47349074-47349074 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.934G>A (p.Ala312Thr) SNV Uncertain significance 878800 10:48389944-48389944 10:47349418-47349418 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.967C>T (p.Arg323Cys) SNV Uncertain significance 878799 10:48389911-48389911 10:47349451-47349451 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.971G>T (p.Ser324Ile) SNV Uncertain significance 878798 10:48389907-48389907 10:47349455-47349455 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1008C>T (p.Val336=) SNV Uncertain significance 878797 10:48389870-48389870 10:47349492-47349492 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1264C>T (p.Arg422Trp) SNV Uncertain significance 879711 10:48389614-48389614 10:47349748-47349748 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1294G>C (p.Val432Leu) SNV Uncertain significance 879710 10:48389584-48389584 10:47349778-47349778 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1588C>T (p.Arg530Cys) SNV Uncertain significance 879349 10:48389290-48389290 10:47350072-47350072 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1647G>A (p.Ala549=) SNV Uncertain significance 879348 10:48389231-48389231 10:47350131-47350131 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1776C>T (p.Thr592=) SNV Uncertain significance 878759 10:48389102-48389102 10:47350260-47350260 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.2184C>T (p.Tyr728=) SNV Uncertain significance 880491 10:48388694-48388694 10:47350668-47350668 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.2327C>A (p.Ala776Asp) SNV Uncertain significance 880490 10:48388551-48388551 10:47350811-47350811 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.2497C>A (p.Arg833Ser) SNV Uncertain significance 879302 10:48388381-48388381 10:47350981-47350981 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*634G>A SNV Uncertain significance 873651 1:26796256-26796256 1:26469765-26469765 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*733T>C SNV Uncertain significance 873652 1:26796355-26796355 1:26469864-26469864 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*988C>T SNV Uncertain significance 874640 1:26796610-26796610 1:26470119-26470119 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*1261C>T SNV Uncertain significance 874641 1:26796883-26796883 1:26470392-26470392 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*1439C>G SNV Uncertain significance 874642 1:26797061-26797061 1:26470570-26470570 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*1464C>T SNV Uncertain significance 875581 1:26797086-26797086 1:26470595-26470595 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*1497C>T SNV Uncertain significance 875582 1:26797119-26797119 1:26470628-26470628 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*1571A>C SNV Uncertain significance 875583 1:26797193-26797193 1:26470702-26470702 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*1574C>T SNV Uncertain significance 875584 1:26797196-26797196 1:26470705-26470705 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.*946C>T SNV Uncertain significance 875931 1:68894513-68894513 1:68428830-68428830 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.*886T>C SNV Uncertain significance 875932 1:68894573-68894573 1:68428890-68428890 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.*630C>T SNV Uncertain significance 876923 1:68894829-68894829 1:68429146-68429146 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.*560C>T SNV Uncertain significance 874132 1:68894899-68894899 1:68429216-68429216 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.*554C>T SNV Uncertain significance 874133 1:68894905-68894905 1:68429222-68429222 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.*546A>C SNV Uncertain significance 875064 1:68894913-68894913 1:68429230-68429230 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.*424C>A SNV Uncertain significance 875990 1:68895035-68895035 1:68429352-68429352 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.3363A>G (p.Glu1121=) SNV Uncertain significance 878711 10:48383869-48383869 10:47355493-47355493 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.3382G>A (p.Val1128Ile) SNV Uncertain significance 877686 10:48383850-48383850 10:47355512-47355512 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.*116A>C SNV Uncertain significance 880452 10:48381789-48381789 10:47357573-47357573 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*451G>C SNV Uncertain significance 887038 16:57917617-57917617 16:57883713-57883713 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*321G>C SNV Uncertain significance 887039 16:57917747-57917747 16:57883843-57883843 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*264T>G SNV Uncertain significance 887040 16:57917804-57917804 16:57883900-57883900 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*170C>G SNV Uncertain significance 888308 16:57917898-57917898 16:57883994-57883994 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*70C>G SNV Uncertain significance 888309 16:57917998-57917998 16:57884094-57884094 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*24C>A SNV Uncertain significance 888310 16:57918044-57918044 16:57884140-57884140 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.3728C>G (p.Pro1243Arg) SNV Uncertain significance 885205 16:57918096-57918096 16:57884192-57884192 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.3609C>T (p.Ala1203=) SNV Uncertain significance 885206 16:57918215-57918215 16:57884311-57884311 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.3496G>A (p.Gly1166Ser) SNV Uncertain significance 886100 16:57918328-57918328 16:57884424-57884424 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.3330C>T (p.Asn1110=) SNV Uncertain significance 887106 16:57921891-57921891 16:57887987-57887987 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2873G>A (p.Ser958Asn) SNV Uncertain significance 888374 16:57935451-57935451 16:57901547-57901547 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2853C>T (p.Asp951=) SNV Uncertain significance 888375 16:57935471-57935471 16:57901567-57901567 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2623A>G (p.Met875Val) SNV Uncertain significance 886167 16:57938649-57938649 16:57904745-57904745 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2599A>G (p.Thr867Ala) SNV Uncertain significance 887178 16:57938673-57938673 16:57904769-57904769 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2594A>C (p.Tyr865Ser) SNV Uncertain significance 887179 16:57938678-57938678 16:57904774-57904774 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2475C>T (p.Tyr825=) SNV Uncertain significance 887181 16:57945674-57945674 16:57911770-57911770 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2412G>A (p.Leu804=) SNV Uncertain significance 888432 16:57945737-57945737 16:57911833-57911833 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2361C>T (p.Tyr787=) SNV Uncertain significance 888433 16:57946842-57946842 16:57912938-57912938 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2154C>T (p.Gly718=) SNV Uncertain significance 885333 16:57951184-57951184 16:57917280-57917280 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1863G>A (p.Val621=) SNV Uncertain significance 886241 16:57953097-57953097 16:57919193-57919193 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1733G>A (p.Arg578Gln) SNV Uncertain significance 886242 16:57954359-57954359 16:57920455-57920455 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1685C>T (p.Ala562Val) SNV Uncertain significance 887246 16:57954407-57954407 16:57920503-57920503 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1322C>T (p.Ala441Val) SNV Uncertain significance 884277 16:57973384-57973384 16:57939480-57939480 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1179C>T (p.Asp393=) SNV Uncertain significance 884278 16:57974168-57974168 16:57940264-57940264 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.746C>A (p.Thr249Asn) SNV Uncertain significance 887302 16:57993807-57993807 16:57959903-57959903 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.713G>A (p.Gly238Asp) SNV Uncertain significance 887303 16:57993840-57993840 16:57959936-57959936 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.629G>A (p.Arg210Gln) SNV Uncertain significance 887304 16:57993924-57993924 16:57960020-57960020 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.585G>A (p.Ala195=) SNV Uncertain significance 887305 16:57993968-57993968 16:57960064-57960064 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.469C>T (p.Arg157Trp) SNV Uncertain significance 888554 16:57994809-57994809 16:57960905-57960905 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.376G>C (p.Ala126Pro) SNV Uncertain significance 888555 16:57996883-57996883 16:57962979-57962979 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.358A>C (p.Ser120Arg) SNV Uncertain significance 888556 16:57996901-57996901 16:57962997-57962997 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.349+15G>A SNV Uncertain significance 886218 15:72104224-72104224 15:71811884-71811884 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.684+6G>C SNV Uncertain significance 887654 15:89754968-89754968 15:89211737-89211737 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.526-4C>T SNV Uncertain significance 885438 15:89755136-89755136 15:89211905-89211905 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.525+14C>T SNV Uncertain significance 885439 15:89758277-89758277 15:89215046-89215046 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.3462+8G>T SNV Uncertain significance 886101 16:57921751-57921751 16:57887847-57887847 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.3242+9C>A SNV Uncertain significance 887107 16:57931292-57931292 16:57897388-57897388 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2634+6G>A SNV Uncertain significance 886165 16:57938632-57938632 16:57904728-57904728 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2634+5C>T SNV Uncertain significance 886166 16:57938633-57938633 16:57904729-57904729 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2167-12C>T SNV Uncertain significance 885332 16:57950095-57950095 16:57916191-57916191 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1957+11G>A SNV Uncertain significance 885334 16:57952992-57952992 16:57919088-57919088 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1957+6T>C SNV Uncertain significance 885335 16:57952997-57952997 16:57919093-57919093 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1373-3C>A SNV Uncertain significance 888498 16:57965785-57965785 16:57931881-57931881 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1034+14G>A SNV Uncertain significance 884279 16:57984271-57984271 16:57950367-57950367 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.-68G>A SNV Uncertain significance 886366 16:58005023-58005023 16:57971119-57971119 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.*167A>G SNV Uncertain significance 892393 17:1553929-1553929 17:1650635-1650635 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.*72C>G SNV Uncertain significance 892395 17:1554024-1554024 17:1650730-1650730 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.*72C>A SNV Uncertain significance 892396 17:1554024-1554024 17:1650730-1650730 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.*36C>G SNV Uncertain significance 892397 17:1554060-1554060 17:1650766-1650766 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.6657G>A (p.Thr2219=) SNV Uncertain significance 889002 17:1554598-1554598 17:1651304-1651304 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.6584C>G (p.Thr2195Ser) SNV Uncertain significance 889693 17:1554774-1554774 17:1651480-1651480 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.6565T>C (p.Ser2189Pro) SNV Uncertain significance 889694 17:1554793-1554793 17:1651499-1651499 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.6447G>A (p.Pro2149=) SNV Uncertain significance 889696 17:1555005-1555005 17:1651711-1651711 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.6414G>C (p.Gln2138His) SNV Uncertain significance 889697 17:1555038-1555038 17:1651744-1651744 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.6120G>A (p.Thr2040=) SNV Uncertain significance 891250 17:1557178-1557178 17:1653884-1653884 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.5841C>T (p.Asn1947=) SNV Uncertain significance 891251 17:1558790-1558790 17:1655496-1655496 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.5538C>T (p.Ala1846=) SNV Uncertain significance 891253 17:1560023-1560023 17:1656729-1656729 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.4792G>A (p.Asp1598Asn) SNV Uncertain significance 892442 17:1563289-1563289 17:1659995-1659995 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.3699C>T (p.Asp1233=) SNV Uncertain significance 889065 17:1576450-1576450 17:1673156-1673156 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.3666G>A (p.Lys1222=) SNV Uncertain significance 889759 17:1576483-1576483 17:1673189-1673189 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.3305C>A (p.Thr1102Lys) SNV Uncertain significance 889761 17:1577181-1577181 17:1673887-1673887 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.3252C>G (p.Pro1084=) SNV Uncertain significance 889762 17:1577783-1577783 17:1674489-1674489 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.3084T>C (p.Tyr1028=) SNV Uncertain significance 891300 17:1577951-1577951 17:1674657-1674657 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.3081A>T (p.Ser1027=) SNV Uncertain significance 891301 17:1577954-1577954 17:1674660-1674660 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.3081A>C (p.Ser1027=) SNV Uncertain significance 891302 17:1577954-1577954 17:1674660-1674660 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.*1527T>G SNV Uncertain significance 891327 17:6327253-6327253 17:6423933-6423933 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.*1288C>T SNV Uncertain significance 889159 17:6327492-6327492 17:6424172-6424172 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.*749G>A SNV Uncertain significance 889902 17:6328031-6328031 17:6424711-6424711 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.*576G>A SNV Uncertain significance 891447 17:6328204-6328204 17:6424884-6424884 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.*564G>A SNV Uncertain significance 891706 17:6328216-6328216 17:6424896-6424896 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.*486G>T SNV Uncertain significance 891707 17:6328294-6328294 17:6424974-6424974 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.*434C>T SNV Uncertain significance 891708 17:6328346-6328346 17:6425026-6425026 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.*164G>A SNV Uncertain significance 889963 17:6328616-6328616 17:6425296-6425296 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.*148A>C SNV Uncertain significance 889964 17:6328632-6328632 17:6425312-6425312 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.*146A>C SNV Uncertain significance 891528 17:6328634-6328634 17:6425314-6425314 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.*112A>T SNV Uncertain significance 891529 17:6328668-6328668 17:6425348-6425348 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.1054G>A (p.Ala352Thr) SNV Uncertain significance 889339 17:6328881-6328881 17:6425561-6425561 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.970C>A (p.Arg324=) SNV Uncertain significance 890026 17:6328965-6328965 17:6425645-6425645 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.939G>A (p.Ala313=) SNV Uncertain significance 891581 17:6328996-6328996 17:6425676-6425676 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.900G>C (p.Ala300=) SNV Uncertain significance 891582 17:6329035-6329035 17:6425715-6425715 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.785G>T (p.Gly262Val) SNV Uncertain significance 891583 17:6329150-6329150 17:6425830-6425830 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.538G>A (p.Val180Ile) SNV Uncertain significance 890664 17:6330305-6330305 17:6426985-6426985 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.-94G>A SNV Uncertain significance 890546 17:74536130-74536130 17:76540048-76540048 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.-82T>C SNV Uncertain significance 890547 17:74536142-74536142 17:76540060-76540060 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.13C>G (p.Leu5Val) SNV Uncertain significance 891110 17:74536236-74536236 17:76540154-76540154 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.85G>C (p.Asp29His) SNV Uncertain significance 891112 17:74536597-74536597 17:76540515-76540515 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.114C>T (p.Ser38=) SNV Uncertain significance 891113 17:74536626-74536626 17:76540544-76540544 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*115G>A SNV Uncertain significance 891114 17:74539166-74539166 17:76543084-76543084 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*241G>A SNV Uncertain significance 892317 17:74539973-74539973 17:76543891-76543891 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*413A>G SNV Uncertain significance 892318 17:74540145-74540145 17:76544063-76544063 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*477C>T SNV Uncertain significance 892319 17:74540209-74540209 17:76544127-76544127 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*687G>A SNV Uncertain significance 888920 17:74540419-74540419 17:76544337-76544337 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*749C>T SNV Uncertain significance 888921 17:74540481-74540481 17:76544399-76544399 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*907G>A SNV Uncertain significance 890615 17:74540639-74540639 17:76544557-76544557 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*1002G>A SNV Uncertain significance 890616 17:74540734-74540734 17:76544652-76544652 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*1010G>A SNV Uncertain significance 890617 17:74540742-74540742 17:76544660-76544660 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*1061C>T SNV Uncertain significance 890618 17:74540793-74540793 17:76544711-76544711 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*1188C>T SNV Uncertain significance 891169 17:74540920-74540920 17:76544838-76544838 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*1268C>A SNV Uncertain significance 891170 17:74541000-74541000 17:76544918-76544918 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*1508C>T SNV Uncertain significance 892371 17:74541240-74541240 17:76545158-76545158 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*1618C>T SNV Uncertain significance 888976 17:74541350-74541350 17:76545268-76545268 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.158T>C (p.Met53Thr) SNV Uncertain significance 884344 16:58001033-58001033 16:57967129-57967129 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.151G>A (p.Glu51Lys) SNV Uncertain significance 884345 16:58001040-58001040 16:57967136-57967136 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.123G>A (p.Pro41=) SNV Uncertain significance 886364 16:58001068-58001068 16:57967164-57967164 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.21G>C (p.Arg7Ser) SNV Uncertain significance 886365 16:58001170-58001170 16:57967266-57967266 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.1028+5A>G SNV Uncertain significance 887943 14:88895812-88895812 14:88429468-88429468 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.1653G>A (p.Leu551=) SNV Uncertain significance 889128 17:1582122-1582122 17:1678828-1678828 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.1311C>T (p.Ala437=) SNV Uncertain significance 889810 17:1582683-1582683 17:1679389-1679389 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.-43G>A SNV Uncertain significance 891615 17:1588105-1588105 17:1684811-1684811 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.-68C>T SNV Uncertain significance 891616 17:1588130-1588130 17:1684836-1684836 RTN008 Retinitis Pigmentosa PDE6G NM_002602.4(PDE6G):c.*529C>T SNV Uncertain significance 889970 17:79617575-79617575 17:81650545-81650545 RTN008 Retinitis Pigmentosa PDE6G NM_002602.4(PDE6G):c.*342C>T SNV Uncertain significance 891536 17:79617762-79617762 17:81650732-81650732 RTN008 Retinitis Pigmentosa PDE6G NM_002602.4(PDE6G):c.*207G>A SNV Uncertain significance 891781 17:79617897-79617897 17:81650867-81650867 RTN008 Retinitis Pigmentosa PDE6G NM_002602.4(PDE6G):c.*4G>C SNV Uncertain significance 891782 17:79618100-79618100 17:81651070-81651070 RTN008 Retinitis Pigmentosa PDE6G NM_002602.4(PDE6G):c.175G>A (p.Gly59Ser) SNV Uncertain significance 891783 17:79618687-79618687 17:81651657-81651657 RTN008 Retinitis Pigmentosa PDE6G NM_002602.4(PDE6G):c.117G>C (p.Lys39Asn) SNV Uncertain significance 889344 17:79620219-79620219 17:81653189-81653189 RTN008 Retinitis Pigmentosa PDE6G NM_002602.4(PDE6G):c.81C>T (p.Pro27=) SNV Uncertain significance 889345 17:79620255-79620255 17:81653225-81653225 RTN008 Retinitis Pigmentosa PDE6G NM_002602.4(PDE6G):c.51C>T (p.Ala17=) SNV Uncertain significance 889346 17:79620285-79620285 17:81653255-81653255 RTN008 Retinitis Pigmentosa PDE6G NM_002602.4(PDE6G):c.-92C>G SNV Uncertain significance 889347 17:79623555-79623555 17:81656525-81656525 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.6854-14C>A SNV Uncertain significance 889001 17:1554264-1554264 17:1650970-1650970 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.6511-3T>C SNV Uncertain significance 889695 17:1554850-1554850 17:1651556-1651556 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.5794-11T>C SNV Uncertain significance 891252 17:1558848-1558848 17:1655554-1655554 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.3061-9T>C SNV Uncertain significance 891303 17:1577983-1577983 17:1674689-1674689 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.1720-7A>G SNV Uncertain significance 889126 17:1581953-1581953 17:1678659-1678659 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.1719+4A>G SNV Uncertain significance 889127 17:1582052-1582052 17:1678758-1678758 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.1409+13A>G SNV Uncertain significance 889129 17:1582572-1582572 17:1679278-1679278 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.867-14A>C SNV Uncertain significance 889811 17:1584362-1584362 17:1681068-1681068 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.101-8C>T SNV Uncertain significance 891366 17:1587003-1587003 17:1683709-1683709 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.74+14C>T SNV Uncertain significance 891111 17:74536311-74536311 17:76540229-76540229 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.-119C>T SNV Uncertain significance 893778 2:112656194-112656194 2:111898617-111898617 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.27G>A (p.Leu9=) SNV Uncertain significance 893779 2:112656339-112656339 2:111898762-111898762 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.710G>A (p.Arg237His) SNV Uncertain significance 892711 2:112705097-112705097 2:111947520-111947520 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.756A>C (p.Pro252=) SNV Uncertain significance 892712 2:112705143-112705143 2:111947566-111947566 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.1620G>A (p.Glu540=) SNV Uncertain significance 894718 2:112758793-112758793 2:112001216-112001216 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.1691T>C (p.Leu564Ser) SNV Uncertain significance 894719 2:112760669-112760669 2:112003092-112003092 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.1885C>T (p.Arg629Trp) SNV Uncertain significance 892740 2:112765977-112765977 2:112008400-112008400 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.2135A>G (p.Glu712Gly) SNV Uncertain significance 892741 2:112777045-112777045 2:112019468-112019468 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.2202C>T (p.Asp734=) SNV Uncertain significance 893537 2:112779011-112779011 2:112021434-112021434 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.2245T>G (p.Tyr749Asp) SNV Uncertain significance 893538 2:112779054-112779054 2:112021477-112021477 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.2551A>C (p.Arg851=) SNV Uncertain significance 893539 2:112785992-112785992 2:112028415-112028415 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.2590G>A (p.Val864Ile) SNV Uncertain significance 893540 2:112786031-112786031 2:112028454-112028454 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.2590G>T (p.Val864Phe) SNV Uncertain significance 893541 2:112786031-112786031 2:112028454-112028454 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.*11G>A SNV Uncertain significance 893833 2:112786452-112786452 2:112028875-112028875 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.*111G>A SNV Uncertain significance 893834 2:112786552-112786552 2:112028975-112028975 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.*193T>C SNV Uncertain significance 893835 2:112786634-112786634 2:112029057-112029057 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.-46C>T SNV Uncertain significance 893403 19:48325257-48325257 19:47822000-47822000 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.400G>A (p.Asp134Asn) SNV Uncertain significance 893435 19:48342724-48342724 19:47839467-47839467 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.562C>T (p.Leu188Phe) SNV Uncertain significance 808211 17:6330281-6330281 17:6426961-6426961 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.177G>C (p.Glu59Asp) SNV Uncertain significance 808720 2:29296951-29296951 2:29074085-29074085 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.494A>G (p.Gln165Arg) SNV Uncertain significance 808753 2:62067645-62067645 2:61840510-61840510 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.677C>T (p.Ala226Val) SNV Uncertain significance 809628 4:16025935-16025935 4:16024312-16024312 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.8861T>A (p.Phe2954Tyr) SNV Uncertain significance 809962 6:64431066-64431066 6:63721170-63721170 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.5053T>G (p.Ser1685Ala) SNV Uncertain significance 809964 6:65300707-65300707 6:64590814-64590814 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2005G>A (p.Ala669Thr) SNV Uncertain significance 810287 8:55538447-55538447 8:54625887-54625887 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.944+5G>A SNV Uncertain significance 811941 2:234243750-234243750 2:233335104-233335104 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.515T>G (p.Ile172Ser) SNV Uncertain significance 812275 4:47944100-47944100 4:47942083-47942083 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2629G>A (p.Gly877Arg) SNV Uncertain significance 812284 16:57938643-57938643 16:57904739-57904739 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.950G>A (p.Arg317His) SNV Uncertain significance 813162 2:182413530-182413530 2:181548803-181548803 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.71G>C (p.Arg24Pro) SNV Uncertain significance 813046 7:128049885-128049885 7:128409831-128409831 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.4627+596A>G SNV Uncertain significance 875976 1:216347998-216347998 1:216174656-216174656 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.4627+512G>A SNV Uncertain significance 876951 1:216348082-216348082 1:216174740-216174740 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.4627+510G>A SNV Uncertain significance 874163 1:216348084-216348084 1:216174742-216174742 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.4627+442C>G SNV Uncertain significance 874164 1:216348152-216348152 1:216174810-216174810 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.4627+343A>G SNV Uncertain significance 874165 1:216348251-216348251 1:216174909-216174909 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.411T>C (p.Pro137=) SNV Uncertain significance 874324 1:197297892-197297892 1:197328762-197328762 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.639C>G (p.Pro213=) SNV Uncertain significance 875244 1:197298120-197298120 1:197328990-197328990 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.*208A>G SNV Uncertain significance 876548 1:156146996-156146996 1:156177205-156177205 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.*485G>A SNV Uncertain significance 873676 1:156147273-156147273 1:156177482-156177482 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.*522A>T SNV Uncertain significance 873677 1:156147310-156147310 1:156177519-156177519 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.*667C>T SNV Uncertain significance 874657 1:156147455-156147455 1:156177664-156177664 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.*687T>A SNV Uncertain significance 874658 1:156147475-156147475 1:156177684-156177684 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.-56C>G SNV Uncertain significance 874265 1:197237487-197237487 1:197268357-197268357 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.-55C>T SNV Uncertain significance 875194 1:197237488-197237488 1:197268358-197268358 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.98G>A (p.Arg33Lys) SNV Uncertain significance 876154 1:197297579-197297579 1:197328449-197328449 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.1493G>C (p.Ser498Thr) SNV Uncertain significance 874383 1:197390451-197390451 1:197421321-197421321 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.1496G>T (p.Gly499Val) SNV Uncertain significance 875300 1:197390454-197390454 1:197421324-197421324 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.1878T>C (p.Ala626=) SNV Uncertain significance 876258 1:197390836-197390836 1:197421706-197421706 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys) SNV Uncertain significance 874427 1:197391014-197391014 1:197421884-197421884 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.2636T>C (p.Val879Ala) SNV Uncertain significance 876424 1:197397091-197397091 1:197427961-197427961 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.2983G>A (p.Glu995Lys) SNV Uncertain significance 875448 1:197403976-197403976 1:197434846-197434846 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.4205T>C (p.Met1402Thr) SNV Uncertain significance 875506 1:197446993-197446993 1:197477863-197477863 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.*81C>A SNV Uncertain significance 876522 1:197447090-197447090 1:197477960-197477960 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.*99G>T SNV Uncertain significance 876523 1:197447108-197447108 1:197477978-197477978 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.*171C>G SNV Uncertain significance 873629 1:197447180-197447180 1:197478050-197478050 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.*261A>G SNV Uncertain significance 873630 1:197447270-197447270 1:197478140-197478140 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.*289A>G SNV Uncertain significance 874626 1:197447298-197447298 1:197478168-197478168 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.*324C>A SNV Uncertain significance 874627 1:197447333-197447333 1:197478203-197478203 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.4627+1133G>A SNV Uncertain significance 876910 1:216347461-216347461 1:216174119-216174119 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.4627+981T>A SNV Uncertain significance 874115 1:216347613-216347613 1:216174271-216174271 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.4627+974T>C SNV Uncertain significance 874116 1:216347620-216347620 1:216174278-216174278 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.4627+850C>T SNV Uncertain significance 875048 1:216347744-216347744 1:216174402-216174402 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.4627+686T>A SNV Uncertain significance 875974 1:216347908-216347908 1:216174566-216174566 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.4627+28A>G SNV Uncertain significance 876037 1:216348566-216348566 1:216175224-216175224 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.4627+10T>C SNV Uncertain significance 877006 1:216348584-216348584 1:216175242-216175242 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.4385C>G (p.Thr1462Ser) SNV Uncertain significance 875140 1:216363576-216363576 1:216190234-216190234 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.4370C>T (p.Ser1457Leu) SNV Uncertain significance 875141 1:216363591-216363591 1:216190249-216190249 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.3884G>T (p.Arg1295Leu) SNV Uncertain significance 877053 1:216371854-216371854 1:216198512-216198512 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.3660A>G (p.Val1220=) SNV Uncertain significance 875199 1:216373120-216373120 1:216199778-216199778 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.2836A>G (p.Thr946Ala) SNV Uncertain significance 875248 1:216405452-216405452 1:216232110-216232110 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.2031G>T (p.Gln677His) SNV Uncertain significance 874386 1:216424381-216424381 1:216251039-216251039 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.1704C>T (p.Tyr568=) SNV Uncertain significance 876381 1:216465653-216465653 1:216292311-216292311 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.1379G>A (p.Gly460Glu) SNV Uncertain significance 875339 1:216496987-216496987 1:216323645-216323645 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.1069A>G (p.Asn357Asp) SNV Uncertain significance 875393 1:216498721-216498721 1:216325379-216325379 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.-305C>G SNV Uncertain significance 874586 1:216596656-216596656 1:216423314-216423314 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.-37G>A SNV Uncertain significance 873594 1:26759400-26759400 1:26432909-26432909 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.53A>G (p.Asn18Ser) SNV Uncertain significance 873595 1:26759489-26759489 1:26432998-26432998 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.794G>A (p.Arg265Gln) SNV Uncertain significance 874595 1:26795414-26795414 1:26468923-26468923 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.855G>T (p.Gly285=) SNV Uncertain significance 875521 1:26795475-26795475 1:26468984-26468984 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*109C>T SNV Uncertain significance 875522 1:26795731-26795731 1:26469240-26469240 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*210C>T SNV Uncertain significance 876530 1:26795832-26795832 1:26469341-26469341 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*226C>G SNV Uncertain significance 876531 1:26795848-26795848 1:26469357-26469357 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*404C>G SNV Uncertain significance 876532 1:26796026-26796026 1:26469535-26469535 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*433T>C SNV Uncertain significance 876533 1:26796055-26796055 1:26469564-26469564 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*573C>T SNV Uncertain significance 873649 1:26796195-26796195 1:26469704-26469704 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.*339A>G SNV Uncertain significance 875992 1:68895120-68895120 1:68429437-68429437 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.*192A>G SNV Uncertain significance 875993 1:68895267-68895267 1:68429584-68429584 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.*128G>A SNV Uncertain significance 876975 1:68895331-68895331 1:68429648-68429648 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.1238G>A (p.Arg413His) SNV Uncertain significance 874186 1:68897159-68897159 1:68431476-68431476 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.920C>T (p.Ser307Phe) SNV Uncertain significance 877023 1:68904703-68904703 1:68439020-68439020 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.902A>G (p.Asn301Ser) SNV Uncertain significance 874234 1:68904721-68904721 1:68439038-68439038 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.807T>C (p.Ser269=) SNV Uncertain significance 875162 1:68904925-68904925 1:68439242-68439242 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.718G>A (p.Val240Ile) SNV Uncertain significance 875163 1:68905251-68905251 1:68439568-68439568 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.701G>A (p.Arg234Gln) SNV Uncertain significance 876131 1:68905268-68905268 1:68439585-68439585 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.576T>A (p.Ile192=) SNV Uncertain significance 876132 1:68906603-68906603 1:68440920-68440920 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.565G>A (p.Val189Ile) SNV Uncertain significance 876133 1:68906614-68906614 1:68440931-68440931 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.474G>C (p.Glu158Asp) SNV Uncertain significance 877074 1:68910235-68910235 1:68444552-68444552 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.395C>T (p.Ala132Val) SNV Uncertain significance 874283 1:68910314-68910314 1:68444631-68444631 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.366C>T (p.Tyr122=) SNV Uncertain significance 874284 1:68910343-68910343 1:68444660-68444660 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.253C>T (p.Arg85Cys) SNV Uncertain significance 875220 1:68910559-68910559 1:68444876-68444876 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.2114C>T (p.Ser705Phe) SNV Uncertain significance 876510 1:156146616-156146616 1:156176825-156176825 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.2131C>T (p.Arg711Trp) SNV Uncertain significance 873620 1:156146633-156146633 1:156176842-156176842 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.1258G>A (p.Val420Met) SNV Uncertain significance 873570 1:156142740-156142740 1:156172949-156172949 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.937G>T (p.Asp313Tyr) SNV Uncertain significance 875441 1:156131263-156131263 1:156161472-156161472 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1036A>G (p.Asn346Asp) SNV Uncertain significance 864624 4:16017830-16017830 4:16016207-16016207 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.3379G>A (p.Gly1127Ser) SNV Uncertain significance 844543 16:57921842-57921842 16:57887938-57887938 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2662G>A (p.Ala888Thr) SNV Uncertain significance 843111 16:57937858-57937858 16:57903954-57903954 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1667C>A (p.Thr556Lys) SNV Uncertain significance 853313 16:57954425-57954425 16:57920521-57920521 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1028T>C (p.Met343Thr) SNV Uncertain significance 850587 16:57984291-57984291 16:57950387-57950387 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.873C>A (p.Thr291=) SNV Uncertain significance 857840 16:57991246-57991246 16:57957342-57957342 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.2425A>G (p.Asn809Asp) SNV Uncertain significance 857795 20:62659916-62659916 20:64028563-64028563 RTN008 Retinitis Pigmentosa PRPF3 NM_004698.4(PRPF3):c.1042C>T (p.Leu348=) SNV Uncertain significance 876284 1:150310642-150310642 1:150338166-150338166 RTN008 Retinitis Pigmentosa PRPF3 NM_004698.4(PRPF3):c.1288A>G (p.Asn430Asp) SNV Uncertain significance 876285 1:150315790-150315790 1:150343314-150343314 RTN008 Retinitis Pigmentosa PRPF3 NM_004698.4(PRPF3):c.1334A>G (p.Gln445Arg) SNV Uncertain significance 876286 1:150315836-150315836 1:150343360-150343360 RTN008 Retinitis Pigmentosa PRPF3 NM_004698.4(PRPF3):c.1390G>A (p.Val464Ile) SNV Uncertain significance 876287 1:150315892-150315892 1:150343416-150343416 RTN008 Retinitis Pigmentosa PRPF3 NM_004698.4(PRPF3):c.1847A>T (p.Asp616Val) SNV Uncertain significance 874300 1:150321636-150321636 1:150349160-150349160 RTN008 Retinitis Pigmentosa PRPF3 NM_004698.4(PRPF3):c.2014C>T (p.Leu672Phe) SNV Uncertain significance 874301 1:150325417-150325417 1:150352941-150352941 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.3103C>T (p.His1035Tyr) SNV Uncertain significance 866293 1:197404096-197404096 1:197434966-197434966 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.2273G>A (p.Arg758His) SNV Uncertain significance 866612 2:112779082-112779082 2:112021505-112021505 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.314T>C (p.Leu105Pro) SNV Uncertain significance 867212 8:55533840-55533840 8:54621280-54621280 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.61+3G>C SNV Uncertain significance 865867 2:112656376-112656376 2:111898799-111898799 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.1328T>C (p.Val443Ala) SNV Uncertain significance 870344 1:68896975-68896975 1:68431292-68431292 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.854T>A (p.Val285Asp) SNV Uncertain significance 870483 11:61725757-61725757 11:61958285-61958285 RTN008 Retinitis Pigmentosa PRPF3 NM_004698.4(PRPF3):c.-80C>T SNV Uncertain significance 875175 1:150294010-150294010 1:150321561-150321561 RTN008 Retinitis Pigmentosa PRPF3 NM_004698.4(PRPF3):c.786G>A (p.Gly262=) SNV Uncertain significance 876145 1:150307463-150307463 1:150334992-150334992 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.4393G>T (p.Ala1465Ser) SNV Uncertain significance 842986 6:65301367-65301367 6:64591474-64591474 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.3809T>G (p.Val1270Gly) SNV Uncertain significance 847373 6:65303078-65303078 6:64593185-64593185 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2857A>G (p.Asn953Asp) SNV Uncertain significance 864270 6:65596725-65596725 6:64886832-64886832 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.841G>C (p.Glu281Gln) SNV Uncertain significance 855604 7:128040182-128040182 7:128400128-128400128 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.443C>T (p.Thr148Met) SNV Uncertain significance 857776 7:128041130-128041130 7:128401076-128401076 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.3040G>C (p.Asp1014His) SNV Uncertain significance 862589 8:55539482-55539482 8:54626922-54626922 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.3667C>T (p.Leu1223Phe) SNV Uncertain significance 837616 10:48381982-48381982 10:47357380-47357380 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.454C>A (p.His152Asn) SNV Uncertain significance 841913 10:86012708-86012708 10:84252952-84252952 RTN008 Retinitis Pigmentosa ROM1 NM_000327.4(ROM1):c.178C>A (p.Pro60Thr) SNV Uncertain significance 846461 11:62380931-62380931 11:62613459-62613459 RTN008 Retinitis Pigmentosa ROM1 NM_000327.4(ROM1):c.793G>A (p.Ala265Thr) SNV Uncertain significance 857908 11:62381932-62381932 11:62614460-62614460 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.2125G>A (p.Glu709Lys) SNV Uncertain significance 840322 5:149263002-149263002 5:149883439-149883439 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1874C>T (p.Ser625Phe) SNV Uncertain significance 855484 5:149264395-149264395 5:149884832-149884832 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.497T>C (p.Val166Ala) SNV Uncertain significance 845477 5:149314259-149314259 5:149934696-149934696 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.196C>T (p.Arg66Trp) SNV Uncertain significance 837054 5:149324041-149324041 5:149944478-149944478 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.296A>G (p.Lys99Arg) SNV Uncertain significance 844244 6:35479478-35479478 6:35511701-35511701 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.184G>A (p.Asp62Asn) SNV Uncertain significance 853314 1:216595495-216595495 1:216422153-216422153 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.1070C>A (p.Ala357Asp) SNV Uncertain significance 842218 1:68903928-68903928 1:68438245-68438245 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.98C>T (p.Pro33Leu) SNV Uncertain significance 854252 2:112686733-112686733 2:111929156-111929156 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.207G>C (p.Gln69His) SNV Uncertain significance 849376 2:112686842-112686842 2:111929265-111929265 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.2467G>C (p.Glu823Gln) SNV Uncertain significance 851069 2:112779952-112779952 2:112022375-112022375 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.154G>C (p.Asp52His) SNV Uncertain significance 837117 2:234227414-234227414 2:233318768-233318768 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.473C>A (p.Thr158Lys) SNV Uncertain significance 855885 2:234235804-234235804 2:233327158-233327158 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.395G>C (p.Cys132Ser) SNV Uncertain significance 850155 2:27601738-27601738 2:27378871-27378871 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2951G>A (p.Arg984Gln) SNV Uncertain significance 845476 2:29294177-29294177 2:29071311-29071311 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.1485G>A (p.Thr495=) SNV Uncertain significance 836301 2:96962701-96962701 2:96296963-96296963 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.578A>G (p.Asp193Gly) SNV Uncertain significance 853273 2:96966788-96966788 2:96301050-96301050 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.392G>A (p.Arg131His) SNV Uncertain significance 842039 3:101023099-101023099 3:101304255-101304255 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.962T>A (p.Ile321Asn) SNV Uncertain significance 861995 3:129252476-129252476 3:129533633-129533633 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.92G>T (p.Gly31Val) SNV Uncertain significance 356780 rs886061404 6:42689981-42689981 6:42722243-42722243 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.-116C>G SNV Uncertain significance 356783 rs886061406 6:42690188-42690188 6:42722450-42722450 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.-166G>A SNV Uncertain significance 356784 rs886061407 6:42690238-42690238 6:42722500-42722500 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.*529A>C SNV Uncertain significance 357682 rs193035948 6:64429963-64429963 6:63720067-63720067 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*351G>A SNV Uncertain significance 356768 rs551934443 6:42665682-42665682 6:42697944-42697944 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*592A>T SNV Uncertain significance 356763 rs573416213 6:42665441-42665441 6:42697703-42697703 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*917G>A SNV Uncertain significance 356758 rs185036139 6:42665116-42665116 6:42697378-42697378 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*1408G>C SNV Uncertain significance 356748 rs573667549 6:42664625-42664625 6:42696887-42696887 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.192T>C (p.Ala64=) SNV Uncertain significance 356475 rs886061337 6:35479582-35479582 6:35511805-35511805 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.26G>A (p.Arg9Gln) SNV Uncertain significance 356477 rs886061338 6:35480610-35480610 6:35512833-35512833 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.3352A>G (p.Ile1118Val) SNV Uncertain significance 357718 rs886061679 6:65523362-65523362 6:64813469-64813469 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.875G>A (p.Arg292Gln) SNV Uncertain significance 356467 rs140460892 6:35473904-35473904 6:35506127-35506127 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.499+12G>C SNV Uncertain significance 356471 rs185636479 6:35478626-35478626 6:35510849-35510849 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.300G>A (p.Arg100=) SNV Uncertain significance 352004 rs886060217 5:149323937-149323937 5:149944374-149944374 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.-57C>T SNV Uncertain significance 352010 rs560865338 5:149324293-149324293 5:149944730-149944730 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.-215T>A SNV Uncertain significance 359792 rs886062216 7:23145431-23145431 7:23105812-23105812 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.*325G>A SNV Uncertain significance 359807 rs567516489 7:23214242-23214242 7:23174623-23174623 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.*376G>A SNV Uncertain significance 359808 rs556366574 7:23214293-23214293 7:23174674-23174674 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.*795G>A SNV Uncertain significance 359812 rs534737488 7:23214712-23214712 7:23175093-23175093 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.*865C>T SNV Uncertain significance 359813 rs193202664 7:23214782-23214782 7:23175163-23175163 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.*913T>C SNV Uncertain significance 359815 rs886062220 7:23214830-23214830 7:23175211-23175211 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.*278C>T SNV Uncertain significance 356462 rs886061335 6:35465826-35465826 6:35498049-35498049 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*2461C>T SNV Uncertain significance 351944 rs551329710 5:149237997-149237997 5:149858434-149858434 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*126T>C SNV Uncertain significance 351978 rs886060216 5:149240332-149240332 5:149860769-149860769 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1408-11G>A SNV Uncertain significance 351989 rs201527437 5:149276350-149276350 5:149896787-149896787 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.853C>A (p.Gln285Lys) SNV Uncertain significance 351993 rs201406216 5:149310596-149310596 5:149931033-149931033 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.830T>C (p.Val277Ala) SNV Uncertain significance 351994 rs145608358 5:149310619-149310619 5:149931056-149931056 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.710G>A (p.Arg237His) SNV Uncertain significance 351996 rs772815917 5:149313500-149313500 5:149933937-149933937 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1729-4C>T SNV Uncertain significance 351987 rs555052906 5:149265941-149265941 5:149886378-149886378 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.384C>T (p.Pro128=) SNV Uncertain significance 352002 rs192618681 5:149323853-149323853 5:149944290-149944290 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.343G>A (p.Val115Ile) SNV Uncertain significance 352003 rs147159579 5:149323894-149323894 5:149944331-149944331 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.-11G>T SNV Uncertain significance 352009 rs112926956 5:149324247-149324247 5:149944684-149944684 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*1762A>G SNV Uncertain significance 351956 rs868404248 5:149238696-149238696 5:149859133-149859133 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*1695G>A SNV Uncertain significance 351958 rs867317358 5:149238763-149238763 5:149859200-149859200 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*1515G>A SNV Uncertain significance 351960 rs536740900 5:149238943-149238943 5:149859380-149859380 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*1335C>T SNV Uncertain significance 351963 rs879722083 5:149239123-149239123 5:149859560-149859560 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*1057C>T SNV Uncertain significance 351966 rs144135425 5:149239401-149239401 5:149859838-149859838 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*951C>T SNV Uncertain significance 351967 rs565361431 5:149239507-149239507 5:149859944-149859944 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*938A>C SNV Uncertain significance 351968 rs886060212 5:149239520-149239520 5:149859957-149859957 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.*321G>T SNV Uncertain significance 358861 rs571536404 7:128032740-128032740 7:128392686-128392686 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.*202C>T SNV Uncertain significance 358869 rs886061982 7:128032859-128032859 7:128392805-128392805 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*1676T>C SNV Uncertain significance 351959 rs115580452 5:149238782-149238782 5:149859219-149859219 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*1304G>A SNV Uncertain significance 351965 rs886060211 5:149239154-149239154 5:149859591-149859591 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.2549G>T (p.Gly850Val) SNV Uncertain significance 351980 rs138315990 5:149240492-149240492 5:149860929-149860929 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.4052T>G (p.Leu1351Arg) SNV Uncertain significance 357713 rs759027016 6:65301708-65301708 6:64591815-64591815 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2287T>C (p.Trp763Arg) SNV Uncertain significance 357729 rs886061684 6:65655780-65655780 6:64945887-64945887 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*1580C>G SNV Uncertain significance 356744 rs886061399 6:42664453-42664453 6:42696715-42696715 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*1299C>T SNV Uncertain significance 356752 rs535380944 6:42664734-42664734 6:42696996-42696996 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*95T>C SNV Uncertain significance 356732 rs886061398 6:42152458-42152458 6:42184720-42184720 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*213A>C SNV Uncertain significance 356770 rs886061402 6:42665820-42665820 6:42698082-42698082 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*154C>T SNV Uncertain significance 356772 rs886061403 6:42665879-42665879 6:42698141-42698141 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.-59G>A SNV Uncertain significance 356781 rs886061405 6:42690131-42690131 6:42722393-42722393 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.8234-15T>A SNV Uncertain significance 357687 rs886061665 6:64431708-64431708 6:63721812-63721812 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.7411+11C>T SNV Uncertain significance 357691 rs886061668 6:64516072-64516072 6:63806179-63806179 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.7034G>A (p.Arg2345His) SNV Uncertain significance 357695 rs201304559 6:64694297-64694297 6:63984404-63984404 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.6899G>T (p.Gly2300Val) SNV Uncertain significance 357697 rs531588707 6:64694432-64694432 6:63984539-63984539 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.4864G>A (p.Ala1622Thr) SNV Uncertain significance 357707 rs533075374 6:65300896-65300896 6:64591003-64591003 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.4606C>A (p.Gln1536Lys) SNV Uncertain significance 357710 rs557152369 6:65301154-65301154 6:64591261-64591261 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.2174C>T (p.Pro725Leu) SNV Uncertain significance 349388 rs886059546 4:658714-658714 4:664925-664925 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.*561C>T SNV Uncertain significance 349413 rs886059551 4:664457-664457 4:670668-670668 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.*309T>A SNV Uncertain significance 349408 rs559243245 4:664205-664205 4:670416-670416 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.*504A>G SNV Uncertain significance 349411 rs886059550 4:664400-664400 4:670611-670611 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.*305G>A SNV Uncertain significance 356461 rs149035389 6:35465799-35465799 6:35498022-35498022 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.477G>C (p.Arg159Ser) SNV Uncertain significance 356472 rs749882966 6:35478660-35478660 6:35510883-35510883 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.85C>T (p.Arg29Trp) SNV Uncertain significance 356476 rs148838796 6:35480430-35480430 6:35512653-35512653 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*1263G>A SNV Uncertain significance 356701 rs548960052 6:42151290-42151290 6:42183552-42183552 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*868G>A SNV Uncertain significance 356709 rs548674194 6:42151685-42151685 6:42183947-42183947 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.483C>T (p.Ser161=) SNV Uncertain significance 349309 rs886059526 4:628480-628480 4:634691-634691 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.*271G>A SNV Uncertain significance 349406 rs552530901 4:664167-664167 4:670378-670378 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.1724G>A (p.Cys575Tyr) SNV Uncertain significance 348835 rs886059422 4:47938787-47938787 4:47936770-47936770 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.739T>A (p.Phe247Ile) SNV Uncertain significance 349362 rs780521818 4:647668-647668 4:653879-653879 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.2073C>T (p.Asp691=) SNV Uncertain significance 349384 rs886059544 4:657954-657954 4:664165-664165 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.2091G>A (p.Glu697=) SNV Uncertain significance 349385 rs886059545 4:657972-657972 4:664183-664183 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.1426G>A (p.Glu476Lys) SNV Uncertain significance 349379 rs746783836 4:652765-652765 4:658976-658976 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.1592G>A (p.Arg531Gln) SNV Uncertain significance 349381 rs144664551 4:654380-654380 4:660591-660591 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.698C>T (p.Thr233Met) SNV Uncertain significance 349313 rs752852029 4:629745-629745 4:635956-635956 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.117G>T (p.Gly39=) SNV Uncertain significance 349286 rs140538420 4:619532-619532 4:625743-625743 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.95G>A (p.Arg32Gln) SNV Uncertain significance 348845 rs76537883 4:47954624-47954624 4:47952607-47952607 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.556C>T (p.Arg186Trp) SNV Uncertain significance 348006 rs369512467 4:16026889-16026889 4:16025266-16025266 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.2135+15G>C SNV Uncertain significance 351982 rs372808484 5:149262977-149262977 5:149883414-149883414 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.918G>A (p.Arg306=) SNV Uncertain significance 351992 rs139553131 5:149301213-149301213 5:149921650-149921650 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.758C>T (p.Thr253Met) SNV Uncertain significance 351995 rs778857421 5:149310691-149310691 5:149931128-149931128 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.481C>G (p.His161Asp) SNV Uncertain significance 352000 rs758150381 5:149314275-149314275 5:149934712-149934712 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.397G>A (p.Val133Ile) SNV Uncertain significance 352001 rs768596256 5:149323840-149323840 5:149944277-149944277 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.299G>A (p.Arg100Gln) SNV Uncertain significance 352005 rs199738915 5:149323938-149323938 5:149944375-149944375 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.159C>A (p.Ser53Arg) SNV Uncertain significance 352007 rs762456548 5:149324078-149324078 5:149944515-149944515 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.1475T>C (p.Val492Ala) SNV Uncertain significance 348838 rs374880057 4:47939036-47939036 4:47937019-47937019 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.841A>G (p.Met281Val) SNV Uncertain significance 348840 rs886059423 4:47939670-47939670 4:47937653-47937653 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.717A>G (p.Lys239=) SNV Uncertain significance 348841 rs368137821 4:47939794-47939794 4:47937777-47937777 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.*274C>T SNV Uncertain significance 348830 rs141978020 4:47938164-47938164 4:47936147-47936147 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.*62A>T SNV Uncertain significance 348832 rs553735132 4:47938376-47938376 4:47936359-47936359 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.*35C>T SNV Uncertain significance 348833 rs757494572 4:47938403-47938403 4:47936386-47936386 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.-127A>G SNV Uncertain significance 348014 rs886059206 4:16077656-16077656 4:16076033-16076033 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*2889C>G SNV Uncertain significance 351936 rs757612877 5:149237569-149237569 5:149858006-149858006 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*2626C>G SNV Uncertain significance 351942 rs367679417 5:149237832-149237832 5:149858269-149858269 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.792G>A (p.Lys264=) SNV Uncertain significance 347999 rs776605111 4:16020156-16020156 4:16018533-16018533 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.*1160A>G SNV Uncertain significance 347962 rs886059194 4:15969856-15969856 4:15968233-15968233 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1344C>T (p.Ile448=) SNV Uncertain significance 347993 rs147174580 4:16008271-16008271 4:16006648-16006648 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1279T>A (p.Leu427Met) SNV Uncertain significance 347994 rs200710798 4:16010594-16010594 4:16008971-16008971 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.718G>A (p.Gly240Arg) SNV Uncertain significance 348002 rs752543587 4:16025015-16025015 4:16023392-16023392 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.277-15C>T SNV Uncertain significance 348007 rs372599685 4:16037399-16037399 4:16035776-16035776 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1578+9G>C SNV Uncertain significance 347989 rs747638667 4:16002110-16002110 4:16000487-16000487 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1717C>T (p.Leu573Phe) SNV Uncertain significance 347986 rs886059201 4:15995660-15995660 4:15994037-15994037 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*2396C>G SNV Uncertain significance 347871 rs867110135 4:155672684-155672684 4:154751532-154751532 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*2418G>A SNV Uncertain significance 347872 rs886059170 4:155672706-155672706 4:154751554-154751554 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*2463T>C SNV Uncertain significance 347874 rs530211304 4:155672751-155672751 4:154751599-154751599 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*2968C>G SNV Uncertain significance 347881 rs886059175 4:155673256-155673256 4:154752104-154752104 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*3819T>C SNV Uncertain significance 347890 rs191600425 4:155674107-155674107 4:154752955-154752955 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*3978C>T SNV Uncertain significance 347892 rs886059180 4:155674266-155674266 4:154753114-154753114 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.*963A>G SNV Uncertain significance 347966 rs886059196 4:15970053-15970053 4:15968430-15968430 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.2508G>A (p.Met836Ile) SNV Uncertain significance 347973 rs534529507 4:15981509-15981509 4:15979886-15979886 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.2480T>C (p.Val827Ala) SNV Uncertain significance 347974 rs886059198 4:15982054-15982054 4:15980431-15980431 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.2281-5C>G SNV Uncertain significance 347980 rs777654968 4:15985983-15985983 4:15984360-15984360 RTN008 Retinitis Pigmentosa ARL6 NM_001278293.3(ARL6):c.*275G>A SNV Uncertain significance 346946 rs886058939 3:97517168-97517168 3:97798324-97798324 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.-84C>T SNV Uncertain significance 347846 rs886059160 4:155665292-155665292 4:154744140-154744140 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.-2+7A>C SNV Uncertain significance 347847 rs886059161 4:155665381-155665381 4:154744229-154744229 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*106T>C SNV Uncertain significance 347853 rs189439579 4:155670394-155670394 4:154749242-154749242 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*549T>C SNV Uncertain significance 347857 rs886059165 4:155670837-155670837 4:154749685-154749685 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*632T>C SNV Uncertain significance 347858 rs886059166 4:155670920-155670920 4:154749768-154749768 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*640T>C SNV Uncertain significance 347859 rs574458445 4:155670928-155670928 4:154749776-154749776 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*671A>G SNV Uncertain significance 347860 rs886059167 4:155670959-155670959 4:154749807-154749807 RTN008 Retinitis Pigmentosa ARL6 NM_001278293.3(ARL6):c.-146T>C SNV Uncertain significance 346938 rs886058937 3:97483703-97483703 3:97764859-97764859 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*1155T>A SNV Uncertain significance 347863 rs72683214 4:155671443-155671443 4:154750291-154750291 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*3264G>A SNV Uncertain significance 347882 rs115053323 4:155673552-155673552 4:154752400-154752400 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*3654T>C SNV Uncertain significance 347886 rs191784588 4:155673942-155673942 4:154752790-154752790 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*3770A>G SNV Uncertain significance 347889 rs886059178 4:155674058-155674058 4:154752906-154752906 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*3980T>C SNV Uncertain significance 347893 rs191125324 4:155674268-155674268 4:154753116-154753116 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1296A>G (p.Leu432=) SNV Uncertain significance 351990 rs372161698 5:149278037-149278037 5:149898474-149898474 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1255C>T (p.Leu419Phe) SNV Uncertain significance 351991 rs141370975 5:149278946-149278946 5:149899383-149899383 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.628-5T>G SNV Uncertain significance 351998 rs757034771 5:149313587-149313587 5:149934024-149934024 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.274G>A (p.Asp92Asn) SNV Uncertain significance 352006 rs199924410 5:149323963-149323963 5:149944400-149944400 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1745G>A (p.Arg582His) SNV Uncertain significance 351986 rs77760924 5:149265921-149265921 5:149886358-149886358 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*599C>T SNV Uncertain significance 351973 rs150867395 5:149239859-149239859 5:149860296-149860296 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*178T>C SNV Uncertain significance 351977 rs113302481 5:149240280-149240280 5:149860717-149860717 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.*545T>C SNV Uncertain significance 349412 rs149186081 4:664441-664441 4:670652-670652 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*1967C>T SNV Uncertain significance 351955 rs538582690 5:149238491-149238491 5:149858928-149858928 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*1389T>C SNV Uncertain significance 351961 rs886060210 5:149239069-149239069 5:149859506-149859506 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*1315G>A SNV Uncertain significance 351964 rs144468326 5:149239143-149239143 5:149859580-149859580 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.2129+9G>C SNV Uncertain significance 349387 rs753943492 4:658019-658019 4:664230-664230 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.1026C>T (p.Ser342=) SNV Uncertain significance 349369 rs754298712 4:649762-649762 4:655973-655973 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.387G>T (p.Glu129Asp) SNV Uncertain significance 349293 rs752303143 4:619802-619802 4:626013-626013 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.469-5G>A SNV Uncertain significance 349307 rs530695084 4:628461-628461 4:634672-634672 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.711+12C>T SNV Uncertain significance 349315 rs886059527 4:629770-629770 4:635981-635981 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.789G>A (p.Thr263=) SNV Uncertain significance 349363 rs138789637 4:647718-647718 4:653929-653929 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.853-9T>C SNV Uncertain significance 349365 rs886059542 4:647860-647860 4:654071-654071 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.932T>C (p.Ile311Thr) SNV Uncertain significance 349367 rs886059543 4:648617-648617 4:654828-654828 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.258C>T (p.Leu86=) SNV Uncertain significance 349291 rs886059520 4:619673-619673 4:625884-625884 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.-110-10A>T SNV Uncertain significance 348846 rs886059424 4:47983527-47983527 4:47981510-47981510 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1271T>C (p.Leu424Ser) SNV Uncertain significance 347995 rs886059202 4:16010602-16010602 4:16008979-16008979 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1954T>G (p.Tyr652Asp) SNV Uncertain significance 347983 rs768320190 4:15992874-15992874 4:15991251-15991251 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1871G>A (p.Cys624Tyr) SNV Uncertain significance 347985 rs886059200 4:15993911-15993911 4:15992288-15992288 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.155T>C (p.Ile52Thr) SNV Uncertain significance 348010 rs778896066 4:16077375-16077375 4:16075752-16075752 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.105A>G (p.Glu35=) SNV Uncertain significance 348011 rs886059205 4:16077425-16077425 4:16075802-16075802 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.-148G>A SNV Uncertain significance 348015 rs75531222 4:16077677-16077677 4:16076054-16076054 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.-168G>A SNV Uncertain significance 348016 rs180926533 4:16077697-16077697 4:16076074-16076074 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.2551G>A (p.Val851Ile) SNV Uncertain significance 347972 rs201910962 4:15981049-15981049 4:15979426-15979426 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.2373+13C>G SNV Uncertain significance 347976 rs886059199 4:15985873-15985873 4:15984250-15984250 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1218C>G (p.Leu406=) SNV Uncertain significance 347996 rs886059203 4:16010655-16010655 4:16009032-16009032 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*741T>C SNV Uncertain significance 343299 rs753496233 3:129253302-129253302 3:129534459-129534459 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.*279G>A SNV Uncertain significance 349407 rs886059548 4:664175-664175 4:670386-670386 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.*390T>C SNV Uncertain significance 349409 rs886059549 4:664286-664286 4:670497-670497 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*2453C>A SNV Uncertain significance 347873 rs886059171 4:155672741-155672741 4:154751589-154751589 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*2467C>G SNV Uncertain significance 347875 rs886059172 4:155672755-155672755 4:154751603-154751603 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*887G>C SNV Uncertain significance 343301 rs886057975 3:129253448-129253448 3:129534605-129534605 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*1455T>C SNV Uncertain significance 343310 rs552362456 3:129254016-129254016 3:129535173-129535173 RTN008 Retinitis Pigmentosa ARL6 NM_001278293.3(ARL6):c.-207G>A SNV Uncertain significance 346937 rs189005414 3:97483642-97483642 3:97764798-97764798 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.654A>G (p.Arg218=) SNV Uncertain significance 348842 rs752257711 4:47942790-47942790 4:47940773-47940773 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.361G>A (p.Glu121Lys) SNV Uncertain significance 348844 rs539600817 4:47945286-47945286 4:47943269-47943269 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.-115C>G SNV Uncertain significance 347845 rs886059159 4:155665261-155665261 4:154744109-154744109 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.244A>G (p.Thr82Ala) SNV Uncertain significance 347849 rs747900628 4:155665722-155665722 4:154744570-154744570 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*826C>T SNV Uncertain significance 347862 rs778612442 4:155671114-155671114 4:154749962-154749962 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.2556C>T (p.Ala852=) SNV Uncertain significance 299963 rs375422843 10:48388322-48388322 10:47351040-47351040 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.2949G>C (p.Glu983Asp) SNV Uncertain significance 299955 rs886047016 10:48387929-48387929 10:47351433-47351433 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.3635C>T (p.Thr1212Ile) SNV Uncertain significance 299951 rs147796755 10:48382014-48382014 10:47357348-47357348 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.*65C>T SNV Uncertain significance 299949 rs183587343 10:48381840-48381840 10:47357522-47357522 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.*388G>A SNV Uncertain significance 299946 rs58627053 10:48381517-48381517 10:47357845-47357845 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.-32G>T SNV Uncertain significance 314774 rs200780988 14:88852131-88852131 14:88385787-88385787 RTN008 Retinitis Pigmentosa BEST1 NM_002032.3(FTH1):c.*312A>G SNV Uncertain significance 305138 rs756884770 11:61731887-61731887 11:61964415-61964415 RTN008 Retinitis Pigmentosa FTH1 NM_002032.3(FTH1):c.*312A>G SNV Uncertain significance 305138 rs756884770 11:61731887-61731887 11:61964415-61964415 RTN008 Retinitis Pigmentosa ROM1 NM_000327.3(ROM1):c.986C>T (p.Ala329Val) SNV Uncertain significance 305168 rs139971812 11:62382241-62382241 11:62614769-62614769 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1141G>C (p.Glu381Gln) SNV Uncertain significance 299988 rs139299230 10:48389737-48389737 10:47349625-47349625 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1754C>A (p.Pro585His) SNV Uncertain significance 299979 rs781830183 10:48389124-48389124 10:47350238-47350238 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1806C>T (p.His602=) SNV Uncertain significance 299977 rs782049247 10:48389072-48389072 10:47350290-47350290 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1919T>C (p.Val640Ala) SNV Uncertain significance 299974 rs886047019 10:48388959-48388959 10:47350403-47350403 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.701G>A (p.Arg234His) SNV Uncertain significance 313842 rs750636662 14:68195950-68195950 14:67729233-67729233 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.*27G>A SNV Uncertain significance 313844 rs886050642 14:68200592-68200592 14:67733875-67733875 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.1793G>C (p.Arg598Thr) SNV Uncertain significance 366567 rs749210641 9:32542730-32542730 9:32542732-32542732 RTN008 Retinitis Pigmentosa NRL NM_006177.5(NRL):c.*480A>G SNV Uncertain significance 312932 rs886050427 14:24549965-24549965 14:24080756-24080756 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.2347G>C (p.Gly783Arg) SNV Uncertain significance 366565 rs148620735 9:32542176-32542176 9:32542178-32542178 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.*506A>G SNV Uncertain significance 366550 rs886063851 9:32540879-32540879 9:32540881-32540881 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.*117A>G SNV Uncertain significance 366555 rs752719297 9:32541268-32541268 9:32541270-32541270 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.*494G>C SNV Uncertain significance 301329 rs546408776 10:86018889-86018889 10:84259133-84259133 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.2797G>T (p.Asp933Tyr) SNV Uncertain significance 366561 rs761851969 9:32541726-32541726 9:32541728-32541728 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.-5T>C SNV Uncertain significance 364003 rs886063195 8:96281422-96281422 8:95269194-95269194 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.259G>A (p.Gly87Ser) SNV Uncertain significance 301318 rs369457258 10:86008700-86008700 10:84248944-84248944 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.460G>A (p.Asp154Asn) SNV Uncertain significance 301319 rs750768609 10:86012714-86012714 10:84252958-84252958 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.512+8G>A SNV Uncertain significance 301321 rs777466420 10:86012774-86012774 10:84253018-84253018 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.866G>A (p.Arg289Gln) SNV Uncertain significance 301322 rs768395760 10:86018385-86018385 10:84258629-84258629 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*965C>G SNV Uncertain significance 363994 rs886063193 8:96258880-96258880 8:95246652-95246652 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*2617G>T SNV Uncertain significance 363979 rs141942063 8:96257228-96257228 8:95245000-95245000 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*2549C>A SNV Uncertain significance 363980 rs745781812 8:96257296-96257296 8:95245068-95245068 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.2121G>A (p.Glu707=) SNV Uncertain significance 299970 rs886047017 10:48388757-48388757 10:47350605-47350605 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.2481C>T (p.Pro827=) SNV Uncertain significance 299964 rs782371726 10:48388397-48388397 10:47350965-47350965 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.2591G>A (p.Arg864Gln) SNV Uncertain significance 299962 rs371184896 10:48388287-48388287 10:47351075-47351075 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.3156C>T (p.Asp1052=) SNV Uncertain significance 299954 rs756128531 10:48385936-48385936 10:47353426-47353426 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*406A>T SNV Uncertain significance 363997 rs530747662 8:96259439-96259439 8:95247211-95247211 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*383C>T SNV Uncertain significance 363998 rs189171642 8:96259462-96259462 8:95247234-95247234 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1207G>A (p.Ala403Thr) SNV Uncertain significance 299985 rs143857049 10:48389671-48389671 10:47349691-47349691 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1323C>T (p.Tyr441=) SNV Uncertain significance 299984 rs782282118 10:48389555-48389555 10:47349807-47349807 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1384C>T (p.Arg462Cys) SNV Uncertain significance 299983 rs551138498 10:48389494-48389494 10:47349868-47349868 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1674G>A (p.Ser558=) SNV Uncertain significance 299981 rs372137106 10:48389204-48389204 10:47350158-47350158 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.258C>T (p.Arg86=) SNV Uncertain significance 299996 rs376194840 10:48390620-48390620 10:47348742-47348742 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1007T>C (p.Val336Ala) SNV Uncertain significance 299992 rs782570418 10:48389871-48389871 10:47349491-47349491 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.4606C>T (p.Pro1536Ser) SNV Uncertain significance 363300 rs767248972 8:55541048-55541048 8:54628488-54628488 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.4699A>G (p.Met1567Val) SNV Uncertain significance 363301 rs374421129 8:55541141-55541141 8:54628581-54628581 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.5074A>C (p.Met1692Leu) SNV Uncertain significance 363304 rs886062994 8:55541516-55541516 8:54628956-54628956 RTN008 Retinitis Pigmentosa ROM1 NM_000327.3(ROM1):c.-301C>T SNV Uncertain significance 305157 rs886048437 11:62380453-62380453 11:62612981-62612981 RTN008 Retinitis Pigmentosa ROM1 NM_000327.3(ROM1):c.-118G>C SNV Uncertain significance 305159 rs886048438 11:62380636-62380636 11:62613164-62613164 RTN008 Retinitis Pigmentosa ROM1 NM_000327.3(ROM1):c.*255C>T SNV Uncertain significance 305171 rs147684283 11:62382566-62382566 11:62615094-62615094 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2386G>A (p.Gly796Ser) SNV Uncertain significance 363283 rs202031905 8:55538828-55538828 8:54626268-54626268 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2524G>A (p.Val842Met) SNV Uncertain significance 363284 rs886062991 8:55538966-55538966 8:54626406-54626406 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.1980T>A (p.Asn660Lys) SNV Uncertain significance 363281 rs886062990 8:55538422-55538422 8:54625862-54625862 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.3579C>T (p.His1193=) SNV Uncertain significance 363292 rs777012140 8:55540021-55540021 8:54627461-54627461 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.3968A>G (p.Tyr1323Cys) SNV Uncertain significance 363295 rs754606635 8:55540410-55540410 8:54627850-54627850 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.4742A>T (p.Lys1581Ile) SNV Uncertain significance 363302 rs766323335 8:55541184-55541184 8:54628624-54628624 RTN008 Retinitis Pigmentosa ROM1 NM_000327.3(ROM1):c.-495G>T SNV Uncertain significance 305151 rs886048435 11:62380259-62380259 11:62612787-62612787 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.-66G>T SNV Uncertain significance 305116 rs886048425 11:61717870-61717870 11:61950398-61950398 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.229C>T (p.Leu77Phe) SNV Uncertain significance 301317 rs146536539 10:86007496-86007496 10:84247740-84247740 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.493G>T (p.Asp165Tyr) SNV Uncertain significance 301320 rs149516779 10:86012747-86012747 10:84252991-84252991 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.1788A>C (p.Arg596Ser) SNV Uncertain significance 366568 rs886063853 9:32542735-32542735 9:32542737-32542737 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.1426G>C (p.Asp476His) SNV Uncertain significance 366570 rs886063854 9:32543097-32543097 9:32543099-32543099 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.*201G>A SNV Uncertain significance 359805 rs781364081 7:23214118-23214118 7:23174499-23174499 RTN008 Retinitis Pigmentosa RP9 NM_203288.2(RP9):c.*75C>T SNV Uncertain significance 360044 rs369792814 7:33134771-33134771 7:33095159-33095159 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.*341T>C SNV Uncertain significance 366552 rs563137078 9:32541044-32541044 9:32541046-32541046 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.*100C>G SNV Uncertain significance 366556 rs886063852 9:32541285-32541285 9:32541287-32541287 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.*47A>G SNV Uncertain significance 366557 rs778217226 9:32541338-32541338 9:32541340-32541340 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.2899G>A (p.Gly967Ser) SNV Uncertain significance 299957 rs201500631 10:48387979-48387979 10:47351383-47351383 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.*180T>C SNV Uncertain significance 299947 rs886047014 10:48381725-48381725 10:47357637-47357637 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.2012G>A (p.Gly671Asp) SNV Uncertain significance 299972 rs886047018 10:48388866-48388866 10:47350496-47350496 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.787G>T (p.Ala263Ser) SNV Uncertain significance 299994 rs77257977 10:48390091-48390091 10:47349271-47349271 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.*232A>G SNV Uncertain significance 359806 rs886062219 7:23214149-23214149 7:23174530-23174530 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.*762G>A SNV Uncertain significance 359810 rs531449074 7:23214679-23214679 7:23175060-23175060 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.318-7T>C SNV Uncertain significance 359797 rs886062217 7:23164660-23164660 7:23125041-23125041 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1123G>A (p.Gly375Ser) SNV Uncertain significance 299989 rs527458754 10:48389755-48389755 10:47349607-47349607 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1399C>T (p.Pro467Ser) SNV Uncertain significance 299982 rs782195686 10:48389479-48389479 10:47349883-47349883 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*2102G>A SNV Uncertain significance 363985 rs184350873 8:96257743-96257743 8:95245515-95245515 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*1870T>A SNV Uncertain significance 363988 rs767822765 8:96257975-96257975 8:95245747-95245747 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*1675G>T SNV Uncertain significance 363990 rs886063192 8:96258170-96258170 8:95245942-95245942 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*408G>A SNV Uncertain significance 363996 rs561848397 8:96259437-96259437 8:95247209-95247209 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.1704G>A (p.Met568Ile) SNV Uncertain significance 358871 rs886061984 7:128034406-128034406 7:128394352-128394352 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.1350C>T (p.Gly450=) SNV Uncertain significance 358874 rs780213373 7:128035240-128035240 7:128395186-128395186 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.919T>C (p.Ser307Pro) SNV Uncertain significance 363280 rs377130833 8:55537361-55537361 8:54624801-54624801 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.737G>A (p.Arg246Gln) SNV Uncertain significance 358879 rs201071873 7:128040436-128040436 7:128400382-128400382 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1232A>G (p.His411Arg) SNV Uncertain significance 357741 rs886061685 6:66094346-66094346 6:65384453-65384453 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2260-7C>T SNV Uncertain significance 357730 rs532797776 6:65655814-65655814 6:64945921-64945921 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2000G>T (p.Arg667Leu) SNV Uncertain significance 357737 rs549456693 6:66005779-66005779 6:65295886-65295886 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.3456G>A (p.Lys1152=) SNV Uncertain significance 363291 rs886062992 8:55539898-55539898 8:54627338-54627338 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.3870G>T (p.Gln1290His) SNV Uncertain significance 363294 rs886062993 8:55540312-55540312 8:54627752-54627752 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.4536G>C (p.Lys1512Asn) SNV Uncertain significance 363298 rs752606944 8:55540978-55540978 8:54628418-54628418 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.5296A>C (p.Asn1766His) SNV Uncertain significance 363305 rs147009600 8:55541738-55541738 8:54629178-54629178 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.5610C>G (p.Ser1870=) SNV Uncertain significance 363307 rs762475732 8:55542052-55542052 8:54629492-54629492 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.*78G>T SNV Uncertain significance 363316 rs551504653 8:55542991-55542991 8:54630431-54630431 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.*631C>T SNV Uncertain significance 358859 rs760544024 7:128032430-128032430 7:128392376-128392376 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.*321G>A SNV Uncertain significance 358862 rs571536404 7:128032740-128032740 7:128392686-128392686 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.*231C>G SNV Uncertain significance 358866 rs1042267 7:128032830-128032830 7:128392776-128392776 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.1653C>T (p.His551=) SNV Uncertain significance 358872 rs147882304 7:128034551-128034551 7:128394497-128394497 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.888C>T (p.Ile296=) SNV Uncertain significance 358877 rs72624957 7:128038654-128038654 7:128398600-128398600 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.146+9C>T SNV Uncertain significance 358880 rs749118285 7:128049801-128049801 7:128409747-128409747 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.*722C>T SNV Uncertain significance 358857 rs886061980 7:128032339-128032339 7:128392285-128392285 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.*258C>T SNV Uncertain significance 358864 rs886061981 7:128032803-128032803 7:128392749-128392749 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.*256T>C SNV Uncertain significance 358865 rs752294619 7:128032805-128032805 7:128392751-128392751 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.-200G>A SNV Uncertain significance 357752 rs368932132 6:66205754-66205754 6:65495861-65495861 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.-332-10C>T SNV Uncertain significance 357755 rs868706829 6:66205896-66205896 6:65496003-65496003 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.-350G>A SNV Uncertain significance 357757 rs886061687 6:66349688-66349688 6:65639795-65639795 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.-495T>C SNV Uncertain significance 357761 rs886061688 6:66417075-66417075 6:65707182-65707182 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.-521C>T SNV Uncertain significance 357763 rs769167992 6:66417101-66417101 6:65707208-65707208 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.-101G>A SNV Uncertain significance 363275 rs867287513 8:55528674-55528674 8:54616114-54616114 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.615+3G>A SNV Uncertain significance 363278 rs199632605 8:55534144-55534144 8:54621584-54621584 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2822G>T (p.Gly941Val) SNV Uncertain significance 357723 rs749101387 6:65612030-65612030 6:64902137-64902137 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.-414G>A SNV Uncertain significance 357759 rs181146743 6:66349752-66349752 6:65639859-65639859 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2890G>A (p.Glu964Lys) SNV Uncertain significance 357722 rs886061681 6:65596692-65596692 6:64886799-64886799 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.8233+8T>G SNV Uncertain significance 357688 rs886061666 6:64436404-64436404 6:63726511-63726511 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.7261A>C (p.Thr2421Pro) SNV Uncertain significance 357692 rs886061669 6:64516233-64516233 6:63806340-63806340 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.592T>A (p.Tyr198Asn) SNV Uncertain significance 357747 rs886061686 6:66204712-66204712 6:65494819-65494819 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.6934C>T (p.Leu2312Phe) SNV Uncertain significance 357696 rs564315274 6:64694397-64694397 6:63984504-63984504 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.-68C>T SNV Uncertain significance 357751 rs530118054 6:66205371-66205371 6:65495478-65495478 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.6047G>A (p.Gly2016Asp) SNV Uncertain significance 357701 rs886061672 6:65098614-65098614 6:64388721-64388721 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.5644+7T>G SNV Uncertain significance 357703 rs539437238 6:65300109-65300109 6:64590216-64590216 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.5618T>G (p.Leu1873Arg) SNV Uncertain significance 357704 rs750613634 6:65300142-65300142 6:64590249-64590249 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.3855G>T (p.Met1285Ile) SNV Uncertain significance 357715 rs886061677 6:65303032-65303032 6:64593139-64593139 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.-207A>G SNV Uncertain significance 357753 rs370140172 6:66205761-66205761 6:65495868-65495868 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.3690C>T (p.Cys1230=) SNV Uncertain significance 357716 rs886061678 6:65303197-65303197 6:64593304-64593304 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.6725+9T>C SNV Uncertain significance 357698 rs886061671 6:64776222-64776222 6:64066329-64066329 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.4663A>G (p.Thr1555Ala) SNV Uncertain significance 357708 rs886061674 6:65301097-65301097 6:64591204-64591204 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.4607A>G (p.Gln1536Arg) SNV Uncertain significance 357709 rs528387472 6:65301153-65301153 6:64591260-64591260 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1218G>T (p.Glu406Asp) SNV Uncertain significance 357742 rs201331309 6:66094360-66094360 6:65384467-65384467 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.-60C>T SNV Uncertain significance 356782 rs144011444 6:42690132-42690132 6:42722394-42722394 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*1007C>A SNV Uncertain significance 356755 rs886061400 6:42665026-42665026 6:42697288-42697288 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.2967A>G (p.Ala989=) SNV Uncertain significance 366560 rs761500932 9:32541556-32541556 9:32541558-32541558 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*507C>G SNV Uncertain significance 356716 rs546491968 6:42152046-42152046 6:42184308-42184308 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*205T>C SNV Uncertain significance 356730 rs886061396 6:42152348-42152348 6:42184610-42184610 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.387G>A (p.Arg129=) SNV Uncertain significance 356735 rs527241870 6:42153506-42153506 6:42185768-42185768 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.-35C>T SNV Uncertain significance 356738 rs561790374 6:42162593-42162593 6:42194855-42194855 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.-114A>G SNV Uncertain significance 356742 rs72854838 6:42162672-42162672 6:42194934-42194934 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*767A>T SNV Uncertain significance 356712 rs886061393 6:42151786-42151786 6:42184048-42184048 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.823-8G>A SNV Uncertain significance 356468 rs372183095 6:35474064-35474064 6:35506287-35506287 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.559C>T (p.Pro187Ser) SNV Uncertain significance 356469 rs748334290 6:35477646-35477646 6:35509869-35509869 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*502C>T SNV Uncertain significance 356718 rs886061394 6:42152051-42152051 6:42184313-42184313 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*451A>G SNV Uncertain significance 356724 rs886061395 6:42152102-42152102 6:42184364-42184364 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*179A>T SNV Uncertain significance 356731 rs886061397 6:42152374-42152374 6:42184636-42184636 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.632G>T (p.Cys211Phe) SNV Uncertain significance 357746 rs772707303 6:66204672-66204672 6:65494779-65494779 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.*31C>T SNV Uncertain significance 356465 rs886061336 6:35466073-35466073 6:35498296-35498296 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.254A>G (p.Gln85Arg) SNV Uncertain significance 356473 rs754040672 6:35479520-35479520 6:35511743-35511743 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.-145C>T SNV Uncertain significance 359794 rs545540476 7:23145501-23145501 7:23105882-23105882 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.1378A>G (p.Thr460Ala) SNV Uncertain significance 359800 rs761755398 7:23207655-23207655 7:23168036-23168036 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*2017C>G SNV Uncertain significance 363986 rs550269782 8:96257828-96257828 8:95245600-95245600 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*1687T>A SNV Uncertain significance 363989 rs886063191 8:96258158-96258158 8:95245930-95245930 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*1629T>G SNV Uncertain significance 363991 rs532315210 8:96258216-96258216 8:95245988-95245988 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*944A>C SNV Uncertain significance 363995 rs886063194 8:96258901-96258901 8:95246673-95246673 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.*259G>A SNV Uncertain significance 358863 rs535964010 7:128032802-128032802 7:128392748-128392748 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.6056G>A (p.Gly2019Asp) SNV Uncertain significance 363310 rs750005747 8:55542498-55542498 8:54629938-54629938 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.6225A>C (p.Arg2075Ser) SNV Uncertain significance 363312 rs756000109 8:55542667-55542667 8:54630107-54630107 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.6255A>T (p.Gln2085His) SNV Uncertain significance 363313 rs886062995 8:55542697-55542697 8:54630137-54630137 RTN008 Retinitis Pigmentosa MAK NM_001242957.2(MAK):c.359-13G>A SNV Uncertain significance 354805 rs76972797 6:10809188-10809188 6:10808955-10808955 RTN008 Retinitis Pigmentosa KLHL7 NM_001172428.1(KLHL7):c.-271C>T SNV Uncertain significance 359789 rs886062215 7:23145375-23145375 7:23105756-23105756 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.*105T>A SNV Uncertain significance 358870 rs886061983 7:128032956-128032956 7:128392902-128392902 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.-59G>A SNV Uncertain significance 358881 rs886061985 7:128050014-128050014 7:128409960-128409960 RTN008 Retinitis Pigmentosa MAK NM_001242957.2(MAK):c.1144-10T>C SNV Uncertain significance 354796 rs202001756 6:10792090-10792090 6:10791857-10791857 RTN008 Retinitis Pigmentosa MAK NM_001242957.2(MAK):c.1317-12T>C SNV Uncertain significance 354793 rs756170824 6:10784817-10784817 6:10784584-10784584 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.-12-12T>C SNV Uncertain significance 363276 rs886062988 8:55533503-55533503 8:54620943-54620943 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.74G>A (p.Arg25His) SNV Uncertain significance 363277 rs886062989 8:55533600-55533600 8:54621040-54621040 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.3198G>A (p.Glu1066=) SNV Uncertain significance 363290 rs759707480 8:55539640-55539640 8:54627080-54627080 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.-272T>C SNV Uncertain significance 357754 rs747914953 6:66205826-66205826 6:65495933-65495933 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.-407C>G SNV Uncertain significance 357758 rs137924872 6:66349745-66349745 6:65639852-65639852 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2027C>T (p.Thr676Met) SNV Uncertain significance 357733 rs199944222 6:65767617-65767617 6:65057724-65057724 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2738+13T>C SNV Uncertain significance 357725 rs886061682 6:65612284-65612284 6:64902391-64902391 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.7620A>C (p.Arg2540Ser) SNV Uncertain significance 357690 rs886061667 6:64498101-64498101 6:63788208-63788208 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.7202G>C (p.Gly2401Ala) SNV Uncertain significance 357693 rs886061670 6:64574105-64574105 6:63864212-63864212 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.7056-15T>A SNV Uncertain significance 357694 rs139056492 6:64574266-64574266 6:63864373-63864373 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.8326G>C (p.Val2776Leu) SNV Uncertain significance 357686 rs886061664 6:64431601-64431601 6:63721705-63721705 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.6284C>T (p.Pro2095Leu) SNV Uncertain significance 357700 rs200374024 6:64940625-64940625 6:64230732-64230732 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.5409A>G (p.Ser1803=) SNV Uncertain significance 357705 rs886061673 6:65300351-65300351 6:64590458-64590458 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.913-14T>A SNV Uncertain significance 314784 rs185459765 14:88895678-88895678 14:88429334-88429334 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.1112T>C (p.Ile371Thr) SNV Uncertain significance 314786 rs150364664 14:88899508-88899508 14:88433164-88433164 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.*280G>A SNV Uncertain significance 324596 rs886053261 17:6328500-6328500 17:6425180-6425180 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.1683A>G (p.Thr561=) SNV Uncertain significance 314794 rs886050875 14:88904649-88904649 14:88438305-88438305 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.5G>A (p.Ser2Asn) SNV Uncertain significance 314797 rs199571677 14:89291056-89291056 14:88824712-88824712 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.*147A>C SNV Uncertain significance 324606 rs886053267 17:6328633-6328633 17:6425313-6425313 RTN008 Retinitis Pigmentosa CA4 NM_000717.5(CA4):c.575A>G (p.Lys192Arg) SNV Uncertain significance 324234 rs147624521 17:58235483-58235483 17:60158122-60158122 RTN008 Retinitis Pigmentosa CA4 NM_000717.5(CA4):c.681G>A (p.Pro227=) SNV Uncertain significance 324235 rs144467811 17:58235744-58235744 17:60158383-60158383 RTN008 Retinitis Pigmentosa CA4 NM_000717.5(CA4):c.744+3G>A SNV Uncertain significance 324236 rs373253742 17:58235810-58235810 17:60158449-60158449 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.*1534G>A SNV Uncertain significance 324572 rs780946014 17:6327246-6327246 17:6423926-6423926 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.*1165C>T SNV Uncertain significance 324584 rs528789571 17:6327615-6327615 17:6424295-6424295 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.*434A>T SNV Uncertain significance 313848 rs886050645 14:68200999-68200999 14:67734282-67734282 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.-26G>T SNV Uncertain significance 368305 rs782652659 X:46696510-46696510 X:46837075-46837075 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.*247T>C SNV Uncertain significance 314808 rs886050879 14:89344001-89344001 14:88877657-88877657 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.372+11A>G SNV Uncertain significance 314780 rs757636745 14:88883199-88883199 14:88416855-88416855 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.1216-4C>T SNV Uncertain significance 314787 rs755958987 14:88904178-88904178 14:88437834-88437834 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.1425G>T (p.Leu475Phe) SNV Uncertain significance 314789 rs181052380 14:88904391-88904391 14:88438047-88438047 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.1606A>G (p.Thr536Ala) SNV Uncertain significance 314791 rs200231959 14:88904572-88904572 14:88438228-88438228 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.1679A>C (p.Asn560Thr) SNV Uncertain significance 314793 rs886050874 14:88904645-88904645 14:88438301-88438301 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.-44C>T SNV Uncertain significance 314795 rs571786285 14:89291008-89291008 14:88824664-88824664 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.905A>G (p.Tyr302Cys) SNV Uncertain significance 314801 rs370111364 14:89327672-89327672 14:88861328-88861328 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.1417A>G (p.Thr473Ala) SNV Uncertain significance 314803 rs376411291 14:89341439-89341439 14:88875095-88875095 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.232G>A (p.Ala78Thr) SNV Uncertain significance 320112 rs201407276 16:57998092-57998092 16:57964188-57964188 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.139G>A (p.Glu47Lys) SNV Uncertain significance 320113 rs78149232 16:58001052-58001052 16:57967148-57967148 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.-25G>A SNV Uncertain significance 320115 rs776035875 16:58004980-58004980 16:57971076-57971076 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.-89C>T SNV Uncertain significance 339452 rs886056957 20:62612510-62612510 20:63981157-63981157 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.-83A>G SNV Uncertain significance 339454 rs527686294 20:62612516-62612516 20:63981163-63981163 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.-54C>T SNV Uncertain significance 339459 rs750275951 20:62612545-62612545 20:63981192-63981192 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.616-7C>T SNV Uncertain significance 339467 rs368728762 20:62626673-62626673 20:63995320-63995320 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.1100G>A (p.Arg367His) SNV Uncertain significance 339468 rs886056959 20:62632506-62632506 20:64001153-64001153 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.-253G>A SNV Uncertain significance 313833 rs886050639 14:68187586-68187586 14:67720869-67720869 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.-121G>A SNV Uncertain significance 313836 rs886050641 14:68189239-68189239 14:67722522-67722522 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.748C>T (p.Leu250Phe) SNV Uncertain significance 313843 rs777424197 14:68195997-68195997 14:67729280-67729280 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.*155C>T SNV Uncertain significance 313846 rs886050643 14:68200720-68200720 14:67734003-67734003 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.6078C>T (p.Ile2026=) SNV Uncertain significance 321878 rs374672916 17:1557220-1557220 17:1653926-1653926 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.5022C>T (p.His1674=) SNV Uncertain significance 321881 rs185936129 17:1562767-1562767 17:1659473-1659473 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.4947-5C>T SNV Uncertain significance 321882 rs190909610 17:1562847-1562847 17:1659553-1659553 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.3729C>T (p.Arg1243=) SNV Uncertain significance 321890 rs370510856 17:1576420-1576420 17:1673126-1673126 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.3657+9T>C SNV Uncertain significance 321892 rs886052612 17:1576642-1576642 17:1673348-1673348 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.2779G>A (p.Gly927Arg) SNV Uncertain significance 339490 rs145731410 20:62664299-62664299 20:64032946-64032946 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.1401A>G (p.Gln467=) SNV Uncertain significance 321909 rs751438136 17:1582593-1582593 17:1679299-1679299 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.360C>T (p.Tyr120=) SNV Uncertain significance 321920 rs764798990 17:1585497-1585497 17:1682203-1682203 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.-34C>T SNV Uncertain significance 321927 rs886052621 17:1588096-1588096 17:1684802-1684802 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.-112A>C SNV Uncertain significance 314771 rs550675797 14:88852051-88852051 14:88385707-88385707 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.-111G>A SNV Uncertain significance 314772 rs886050871 14:88852052-88852052 14:88385708-88385708 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.-62G>A SNV Uncertain significance 314773 rs886050872 14:88852101-88852101 14:88385757-88385757 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.*152G>T SNV Uncertain significance 330115 rs62144169 19:54635015-54635015 19:54131584-54131584 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.*197G>C SNV Uncertain significance 330117 rs886054620 19:54635060-54635060 19:54131629-54131629 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2952G>A SNV Uncertain significance 329778 rs886054562 19:48346176-48346176 19:47842919-47842919 RTN008 Retinitis Pigmentosa PDE6G NM_002602.4(PDE6G):c.-57C>G SNV Uncertain significance 325862 rs772348610 17:79620392-79620392 17:81653362-81653362 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2485C>T SNV Uncertain significance 329763 rs564202140 19:48345709-48345709 19:47842452-47842452 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.177+7G>A SNV Uncertain significance 330094 rs886054618 19:54621842-54621842 19:54118462-54118462 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.1147-9C>G SNV Uncertain significance 330104 rs655240 19:54632423-54632423 19:54129048-54129048 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*746T>C SNV Uncertain significance 329721 rs886054552 19:48343970-48343970 19:47840713-47840713 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*907C>T SNV Uncertain significance 329728 rs559582292 19:48344131-48344131 19:47840874-47840874 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*1759G>T SNV Uncertain significance 329746 rs886054558 19:48344983-48344983 19:47841726-47841726 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.228G>A (p.Ser76=) SNV Uncertain significance 317241 rs202116993 15:89760469-89760469 15:89217238-89217238 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.-72C>T SNV Uncertain significance 317246 rs886051501 15:89762278-89762278 15:89219047-89219047 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.-199T>C SNV Uncertain significance 317249 rs117263224 15:89763066-89763066 15:89219835-89219835 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.-234C>T SNV Uncertain significance 317251 rs779779512 15:89764776-89764776 15:89221545-89221545 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.717C>A (p.Gly239=) SNV Uncertain significance 329698 rs886054546 19:48343041-48343041 19:47839784-47839784 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*252C>T SNV Uncertain significance 329705 rs886054549 19:48343476-48343476 19:47840219-47840219 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.1132G>A (p.Gly378Ser) SNV Uncertain significance 338011 rs376112899 20:2639423-2639423 20:2658777-2658777 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.1061A>G (p.Lys354Arg) SNV Uncertain significance 338014 rs886056568 20:2640181-2640181 20:2659535-2659535 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.917G>A (p.Gly306Asp) SNV Uncertain significance 338017 rs886056570 20:2640438-2640438 20:2659792-2659792 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.684G>A (p.Leu228=) SNV Uncertain significance 338021 rs143110856 20:2640993-2640993 20:2660347-2660347 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.252C>T (p.His84=) SNV Uncertain significance 338026 rs139159095 20:2644177-2644177 20:2663531-2663531 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.161T>C (p.Leu54Pro) SNV Uncertain significance 338027 rs886056572 20:2644361-2644361 20:2663715-2663715 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.66A>G (p.Ala22=) SNV Uncertain significance 338029 rs886056573 20:2644622-2644622 20:2663976-2663976 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*1429T>C SNV Uncertain significance 320023 rs139212660 16:57916639-57916639 16:57882735-57882735 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*1149G>A SNV Uncertain significance 320030 rs886052187 16:57916919-57916919 16:57883015-57883015 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*611G>A SNV Uncertain significance 320043 rs886052189 16:57917457-57917457 16:57883553-57883553 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*235G>C SNV Uncertain significance 320049 rs886052190 16:57917833-57917833 16:57883929-57883929 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*111T>C SNV Uncertain significance 320052 rs556523294 16:57917957-57917957 16:57884053-57884053 RTN008 Retinitis Pigmentosa NRL NM_006177.5(NRL):c.*1127T>C SNV Uncertain significance 312923 rs113119768 14:24549318-24549318 14:24080109-24080109 RTN008 Retinitis Pigmentosa NRL NM_006177.5(NRL):c.*1043G>A SNV Uncertain significance 312925 rs767236932 14:24549402-24549402 14:24080193-24080193 RTN008 Retinitis Pigmentosa NRL NM_006177.5(NRL):c.*813G>A SNV Uncertain significance 312928 rs560755924 14:24549632-24549632 14:24080423-24080423 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.3590C>A (p.Pro1197Gln) SNV Uncertain significance 320056 rs749978261 16:57918234-57918234 16:57884330-57884330 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.3560G>A (p.Arg1187Gln) SNV Uncertain significance 320058 rs543712958 16:57918264-57918264 16:57884360-57884360 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.3639G>C (p.Glu1213Asp) SNV Uncertain significance 320055 rs886052191 16:57918185-57918185 16:57884281-57884281 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.3340G>A (p.Ala1114Thr) SNV Uncertain significance 320063 rs200242407 16:57921881-57921881 16:57887977-57887977 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2850C>T (p.Ile950=) SNV Uncertain significance 320071 rs563734833 16:57935474-57935474 16:57901570-57901570 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2844C>T (p.Leu948=) SNV Uncertain significance 320072 rs376791249 16:57935480-57935480 16:57901576-57901576 RTN008 Retinitis Pigmentosa NRL NM_006177.5(NRL):c.*56G>A SNV Uncertain significance 312940 rs886050428 14:24550389-24550389 14:24081180-24081180 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2452C>A (p.Leu818Ile) SNV Uncertain significance 320078 rs200323140 16:57945697-57945697 16:57911793-57911793 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2098C>T (p.Leu700Phe) SNV Uncertain significance 320080 rs181974243 16:57951240-57951240 16:57917336-57917336 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1435C>A (p.Leu479Ile) SNV Uncertain significance 320095 rs2303783 16:57965720-57965720 16:57931816-57931816 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1275C>G (p.Ala425=) SNV Uncertain significance 320097 rs376016716 16:57973431-57973431 16:57939527-57939527 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.761+15A>G SNV Uncertain significance 320103 rs187864931 16:57993777-57993777 16:57959873-57959873 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.402C>A (p.Ser134Arg) SNV Uncertain significance 317012 rs886051452 15:72104347-72104347 15:71812007-71812007 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.444T>C (p.Ala148=) SNV Uncertain significance 317014 rs533192044 15:72104389-72104389 15:71812049-71812049 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.666G>C (p.Glu222Asp) SNV Uncertain significance 317018 rs759765652 15:72104770-72104770 15:71812430-71812430 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.*275A>C SNV Uncertain significance 317025 rs886051455 15:72110300-72110300 15:71817959-71817959 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.*558C>A SNV Uncertain significance 317029 rs886051459 15:72110583-72110583 15:71818242-71818242 RTN008 Retinitis Pigmentosa CA4 NM_000717.5(CA4):c.210C>A (p.Phe70Leu) SNV Uncertain significance 324227 rs886053185 17:58234018-58234018 17:60156657-60156657 RTN008 Retinitis Pigmentosa PDE6G NM_002602.4(PDE6G):c.*420G>A SNV Uncertain significance 325853 rs575031718 17:79617684-79617684 17:81650654-81650654 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.1220A>T (p.Lys407Ile) SNV Uncertain significance 314788 rs886050873 14:88904186-88904186 14:88437842-88437842 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.1622T>C (p.Ile541Thr) SNV Uncertain significance 314792 rs139510848 14:88904588-88904588 14:88438244-88438244 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.-38C>A SNV Uncertain significance 314796 rs886050876 14:89291014-89291014 14:88824670-88824670 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.1491C>T (p.Asp497=) SNV Uncertain significance 314805 rs886050878 14:89343697-89343697 14:88877353-88877353 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.-139G>T SNV Uncertain significance 317002 rs138513681 15:72102945-72102945 15:71810605-71810605 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.119-8C>T SNV Uncertain significance 317004 rs373874970 15:72103815-72103815 15:71811475-71811475 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.222C>G (p.Ser74Arg) SNV Uncertain significance 317005 rs767304567 15:72103926-72103926 15:71811586-71811586 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.*201C>T SNV Uncertain significance 313847 rs886050644 14:68200766-68200766 14:67734049-67734049 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.*1017C>T SNV Uncertain significance 324586 rs868498336 17:6327763-6327763 17:6424443-6424443 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.*23C>G SNV Uncertain significance 324610 rs369568105 17:6328757-6328757 17:6425437-6425437 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.1108C>T (p.Pro370Ser) SNV Uncertain significance 324611 rs139079107 17:6328827-6328827 17:6425507-6425507 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.377T>A (p.Met126Lys) SNV Uncertain significance 324620 rs761622978 17:6331726-6331726 17:6428406-6428406 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.359C>T (p.Thr120Met) SNV Uncertain significance 324621 rs144579083 17:6331744-6331744 17:6428424-6428424 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.283C>T (p.Arg95Trp) SNV Uncertain significance 313837 rs552516182 14:68191911-68191911 14:67725194-67725194 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*578C>G SNV Uncertain significance 325480 rs756335948 17:74540310-74540310 17:76544228-76544228 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*590C>A SNV Uncertain significance 325481 rs144319284 17:74540322-74540322 17:76544240-76544240 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*643C>T SNV Uncertain significance 325484 rs745814897 17:74540375-74540375 17:76544293-76544293 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*932C>T SNV Uncertain significance 325489 rs117784164 17:74540664-74540664 17:76544582-76544582 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*1186G>A SNV Uncertain significance 325493 rs568033840 17:74540918-74540918 17:76544836-76544836 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*1247C>A SNV Uncertain significance 325495 rs886053480 17:74540979-74540979 17:76544897-76544897 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*1259G>A SNV Uncertain significance 325496 rs144852411 17:74540991-74540991 17:76544909-76544909 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*1410G>C SNV Uncertain significance 325501 rs374415732 17:74541142-74541142 17:76545060-76545060 RTN008 Retinitis Pigmentosa ROM1 NM_000327.3(ROM1):c.-499G>C SNV Uncertain significance 305150 rs539586649 11:62380255-62380255 11:62612783-62612783 RTN008 Retinitis Pigmentosa ROM1 NM_000327.3(ROM1):c.-27C>T SNV Uncertain significance 305160 rs886048439 11:62380727-62380727 11:62613255-62613255 RTN008 Retinitis Pigmentosa ROM1 NM_000327.3(ROM1):c.502T>C (p.Cys168Arg) SNV Uncertain significance 305164 rs201202592 11:62381255-62381255 11:62613783-62613783 RTN008 Retinitis Pigmentosa ROM1 NM_000327.3(ROM1):c.906G>A (p.Ala302=) SNV Uncertain significance 305167 rs200213584 11:62382161-62382161 11:62614689-62614689 RTN008 Retinitis Pigmentosa ROM1 NM_000327.3(ROM1):c.*14G>C SNV Uncertain significance 305169 rs202210450 11:62382325-62382325 11:62614853-62614853 RTN008 Retinitis Pigmentosa NRL NM_006177.5(NRL):c.*935C>T SNV Uncertain significance 312926 rs184235122 14:24549510-24549510 14:24080301-24080301 RTN008 Retinitis Pigmentosa NRL NM_006177.5(NRL):c.*780G>C SNV Uncertain significance 312929 rs886050426 14:24549665-24549665 14:24080456-24080456 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.*1537C>A SNV Uncertain significance 324571 rs886053255 17:6327243-6327243 17:6423923-6423923 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.*1459G>T SNV Uncertain significance 324573 rs886053256 17:6327321-6327321 17:6424001-6424001 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.*1335A>C SNV Uncertain significance 324578 rs886053260 17:6327445-6327445 17:6424125-6424125 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.4022+15A>G SNV Uncertain significance 321885 rs370376159 17:1565185-1565185 17:1661891-1661891 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.1869G>C (p.Lys623Asn) SNV Uncertain significance 321907 rs200389505 17:1580974-1580974 17:1677680-1677680 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.1263C>T (p.Ala421=) SNV Uncertain significance 321912 rs886052615 17:1582929-1582929 17:1679635-1679635 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.-15T>A SNV Uncertain significance 321923 rs886052618 17:1588077-1588077 17:1684783-1684783 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.-30T>C SNV Uncertain significance 321926 rs886052620 17:1588092-1588092 17:1684798-1684798 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.699A>G (p.Pro233=) SNV Uncertain significance 305121 rs760816505 11:61724921-61724921 11:61957449-61957449 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.1157A>C (p.His386Pro) SNV Uncertain significance 305127 rs886048427 11:61729783-61729783 11:61962311-61962311 RTN008 Retinitis Pigmentosa ROM1 NM_000327.3(ROM1):c.*179A>C SNV Uncertain significance 305170 rs886048441 11:62382490-62382490 11:62615018-62615018 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.6801C>T (p.Phe2267=) SNV Uncertain significance 321872 rs755962697 17:1554454-1554454 17:1651160-1651160 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.6783G>A (p.Met2261Ile) SNV Uncertain significance 321873 rs886052611 17:1554472-1554472 17:1651178-1651178 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.139C>T (p.Arg47Cys) SNV Uncertain significance 305117 rs765333778 11:61719417-61719417 11:61951945-61951945 RTN008 Retinitis Pigmentosa ROM1 NM_000327.3(ROM1):c.183C>A (p.Val61=) SNV Uncertain significance 305162 rs886048440 11:62380936-62380936 11:62613464-62613464 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.1583A>G (p.Glu528Gly) SNV Uncertain significance 305131 rs757181644 11:61730209-61730209 11:61962737-61962737 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.351G>A (p.Lys117=) SNV Uncertain significance 305120 rs886048426 11:61723293-61723293 11:61955821-61955821 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.1330G>A (p.Ala444Thr) SNV Uncertain significance 305128 rs765604572 11:61729956-61729956 11:61962484-61962484 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.1457C>T (p.Pro486Leu) SNV Uncertain significance 305129 rs886048428 11:61730083-61730083 11:61962611-61962611 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.3421G>A (p.Ala1141Thr) SNV Uncertain significance 320060 rs201449358 16:57921800-57921800 16:57887896-57887896 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.3309G>A (p.Ala1103=) SNV Uncertain significance 320064 rs201319323 16:57921912-57921912 16:57888008-57888008 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2862C>T (p.Tyr954=) SNV Uncertain significance 320069 rs763416913 16:57935462-57935462 16:57901558-57901558 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1870G>C (p.Glu624Gln) SNV Uncertain significance 320085 rs373159617 16:57953090-57953090 16:57919186-57919186 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1803C>A (p.Ser601=) SNV Uncertain significance 320087 rs201290058 16:57953157-57953157 16:57919253-57919253 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1802-14A>G SNV Uncertain significance 320088 rs751916833 16:57953172-57953172 16:57919268-57919268 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1631C>T (p.Pro544Leu) SNV Uncertain significance 320091 rs145234666 16:57957189-57957189 16:57923285-57923285 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1056G>A (p.Glu352=) SNV Uncertain significance 320100 rs773973583 16:57983322-57983322 16:57949418-57949418 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.304G>C (p.Ala102Pro) SNV Uncertain significance 317240 rs143121722 15:89760393-89760393 15:89217162-89217162 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.-182G>C SNV Uncertain significance 317248 rs886051503 15:89763049-89763049 15:89219818-89219818 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.-17A>G SNV Uncertain significance 301316 rs377314145 10:86004830-86004830 10:84245074-84245074 RTN008 Retinitis Pigmentosa CLN3 NM_000086.2(CLN3):c.837+5G>A SNV Uncertain significance 318720 rs756848924 16:28493942-28493942 16:28482621-28482621 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*1544T>C SNV Uncertain significance 320021 rs551005635 16:57916524-57916524 16:57882620-57882620 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*1018A>C SNV Uncertain significance 320031 rs146438867 16:57917050-57917050 16:57883146-57883146 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.813C>T (p.Leu271=) SNV Uncertain significance 305122 rs370397270 11:61725716-61725716 11:61958244-61958244 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*882G>A SNV Uncertain significance 320037 rs886052188 16:57917186-57917186 16:57883282-57883282 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*116G>A SNV Uncertain significance 320051 rs182224027 16:57917952-57917952 16:57884048-57884048 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.3584C>G (p.Ser1195Cys) SNV Uncertain significance 320057 rs201186180 16:57918240-57918240 16:57884336-57884336 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.*334T>C SNV Uncertain significance 317226 rs886051500 15:89753182-89753182 15:89209951-89209951 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.*340G>C SNV Uncertain significance 317026 rs886051456 15:72110365-72110365 15:71818024-71818024 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.*554A>C SNV Uncertain significance 317028 rs886051458 15:72110579-72110579 15:71818238-71818238 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.*197T>G SNV Uncertain significance 317023 rs779157022 15:72110222-72110222 15:71817881-71817881 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.410C>T (p.Ser137Phe) SNV Uncertain significance 317013 rs767828150 15:72104355-72104355 15:71812015-71812015 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.571G>A (p.Ala191Thr) SNV Uncertain significance 317016 rs779518180 15:72104516-72104516 15:71812176-71812176 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.572-13C>T SNV Uncertain significance 317017 rs376114936 15:72104663-72104663 15:71812323-71812323 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.838C>G (p.Pro280Ala) SNV Uncertain significance 317019 rs769154628 15:72105819-72105819 15:71813479-71813479 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1146T>G (p.Asp382Glu) SNV Uncertain significance 299987 rs782731785 10:48389732-48389732 10:47349630-47349630 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1179A>G (p.Thr393=) SNV Uncertain significance 299986 rs148615170 10:48389699-48389699 10:47349663-47349663 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1742T>A (p.Leu581Gln) SNV Uncertain significance 299980 rs886047021 10:48389136-48389136 10:47350226-47350226 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1813G>C (p.Ala605Pro) SNV Uncertain significance 299975 rs886047020 10:48389065-48389065 10:47350297-47350297 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.2125G>T (p.Val709Leu) SNV Uncertain significance 299969 rs782171257 10:48388753-48388753 10:47350609-47350609 RTN008 Retinitis Pigmentosa ROM1 NM_000327.3(ROM1):c.70C>T (p.Leu24Phe) SNV Uncertain significance 305161 rs766769824 11:62380823-62380823 11:62613351-62613351 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.275C>T (p.Thr92Met) SNV Uncertain significance 314798 rs886050877 14:89307218-89307218 14:88840874-88840874 RTN008 Retinitis Pigmentosa TTC8 NM_198309.3(TTC8):c.769-11C>T SNV Uncertain significance 314800 rs768485587 14:89327555-89327555 14:88861211-88861211 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.1382C>T (p.Ala461Val) SNV Uncertain significance 314802 rs139195149 14:89341404-89341404 14:88875060-88875060 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.2270T>G (p.Val757Gly) SNV Uncertain significance 299967 rs17853945 10:48388608-48388608 10:47350754-47350754 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.2407G>A (p.Ala803Thr) SNV Uncertain significance 299966 rs782632795 10:48388471-48388471 10:47350891-47350891 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.2616G>A (p.Thr872=) SNV Uncertain significance 299961 rs570062125 10:48388262-48388262 10:47351100-47351100 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.2626G>T (p.Ala876Ser) SNV Uncertain significance 299959 rs138240045 10:48388252-48388252 10:47351110-47351110 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.2871G>T (p.Leu957=) SNV Uncertain significance 299958 rs377374761 10:48388007-48388007 10:47351355-47351355 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.2921G>A (p.Arg974Lys) SNV Uncertain significance 299956 rs782423972 10:48387957-48387957 10:47351405-47351405 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.3707G>A (p.Arg1236Lys) SNV Uncertain significance 299950 rs3740296 10:48381942-48381942 10:47357420-47357420 RTN008 Retinitis Pigmentosa PCDH15 NM_033056.4(PCDH15):c.594G>A (p.Pro198=) SNV Uncertain significance 300202 rs368308772 10:56106125-56106125 10:54346365-54346365 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.*200C>T SNV Uncertain significance 301325 rs764175932 10:86018595-86018595 10:84258839-84258839 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.*220C>G SNV Uncertain significance 301326 rs886047352 10:86018615-86018615 10:84258859-84258859 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.*484T>C SNV Uncertain significance 301328 rs886047353 10:86018879-86018879 10:84259123-84259123 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.-86C>T SNV Uncertain significance 339453 rs886056958 20:62612513-62612513 20:63981160-63981160 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.1566C>T (p.Cys522=) SNV Uncertain significance 339477 rs367582115 20:62648117-62648117 20:64016764-64016764 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.75-10C>A SNV Uncertain significance 325473 rs886053474 17:74536577-74536577 17:76540495-76540495 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.75-3C>G SNV Uncertain significance 325474 rs200091367 17:74536584-74536584 17:76540502-76540502 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.193G>A (p.Ala65Thr) SNV Uncertain significance 339465 rs771734100 20:62614521-62614521 20:63983168-63983168 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*248A>G SNV Uncertain significance 325475 rs886053475 17:74539980-74539980 17:76543898-76543898 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.*36C>T SNV Uncertain significance 321867 rs776962939 17:1554060-1554060 17:1650766-1650766 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.*1444G>A SNV Uncertain significance 324575 rs886053258 17:6327336-6327336 17:6424016-6424016 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.639C>T (p.Thr213=) SNV Uncertain significance 324616 rs371485219 17:6330204-6330204 17:6426884-6426884 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.414C>T (p.Asp138=) SNV Uncertain significance 324618 rs565896898 17:6331689-6331689 17:6428369-6428369 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.1147-5C>G SNV Uncertain significance 330105 rs587757028 19:54632427-54632427 19:54129052-54129052 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.*253T>C SNV Uncertain significance 338007 rs140155681 20:2639144-2639144 20:2658498-2658498 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.916G>T (p.Gly306Cys) SNV Uncertain significance 338018 rs886056571 20:2640439-2640439 20:2659793-2659793 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.916-10C>T SNV Uncertain significance 338019 rs202127751 20:2640449-2640449 20:2659803-2659803 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.522G>T (p.Leu174=) SNV Uncertain significance 338023 rs778097475 20:2641352-2641352 20:2660706-2660706 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.426A>G (p.Val142=) SNV Uncertain significance 338024 rs760619105 20:2641448-2641448 20:2660802-2660802 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.3009C>T (p.His1003=) SNV Uncertain significance 321896 rs149785500 17:1578497-1578497 17:1675203-1675203 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.534T>C (p.Tyr178=) SNV Uncertain significance 321918 rs886052616 17:1585233-1585233 17:1681939-1681939 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.283A>G (p.Met95Val) SNV Uncertain significance 321921 rs373157040 17:1585574-1585574 17:1682280-1682280 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.-4G>T SNV Uncertain significance 321922 rs886052617 17:1587869-1587869 17:1684575-1684575 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.-62G>T SNV Uncertain significance 321929 rs886052622 17:1588124-1588124 17:1684830-1684830 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.-76A>G SNV Uncertain significance 321931 rs765014520 17:1588138-1588138 17:1684844-1684844 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.-32A>C SNV Uncertain significance 330090 rs886054617 19:54619154-54619154 19:54115774-54115774 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.107A>G (p.Gln36Arg) SNV Uncertain significance 330093 rs781412138 19:54621765-54621765 19:54118385-54118385 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.207G>A (p.Glu69=) SNV Uncertain significance 330095 rs886054619 19:54621982-54621982 19:54118602-54118602 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.855+12G>A SNV Uncertain significance 330101 rs763372742 19:54628047-54628047 19:54124668-54124668 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*1309T>C SNV Uncertain significance 329740 rs886054556 19:48344533-48344533 19:47841276-47841276 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*132G>A SNV Uncertain significance 329703 rs886054548 19:48343356-48343356 19:47840099-47840099 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*392G>A SNV Uncertain significance 329707 rs886054550 19:48343616-48343616 19:47840359-47840359 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*436G>T SNV Uncertain significance 329711 rs759530877 19:48343660-48343660 19:47840403-47840403 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*228T>G SNV Uncertain significance 320050 rs183796279 16:57917840-57917840 16:57883936-57883936 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.3717G>T (p.Ser1239=) SNV Uncertain significance 320054 rs202083169 16:57918107-57918107 16:57884203-57884203 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.3244C>T (p.Arg1082Cys) SNV Uncertain significance 320065 rs199780945 16:57921977-57921977 16:57888073-57888073 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1854C>T (p.Ala618=) SNV Uncertain significance 320086 rs572930933 16:57953106-57953106 16:57919202-57919202 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1500C>G (p.Thr500=) SNV Uncertain significance 320093 rs75406397 16:57965655-57965655 16:57931751-57931751 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.898G>A (p.Val300Met) SNV Uncertain significance 320101 rs763142627 16:57984421-57984421 16:57950517-57950517 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.802C>T (p.Pro268Ser) SNV Uncertain significance 320102 rs886052193 16:57992349-57992349 16:57958445-57958445 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.545A>T (p.Asp182Val) SNV Uncertain significance 320104 rs748928062 16:57994424-57994424 16:57960520-57960520 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2634+4T>C SNV Uncertain significance 320074 rs202096769 16:57938634-57938634 16:57904730-57904730 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.3154G>T (p.Val1052Leu) SNV Uncertain significance 321894 rs886052613 17:1577881-1577881 17:1674587-1674587 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.-24G>A SNV Uncertain significance 321925 rs886052619 17:1588086-1588086 17:1684792-1684792 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.-43G>C SNV Uncertain significance 321928 rs575056329 17:1588105-1588105 17:1684811-1684811 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.-74C>T SNV Uncertain significance 321930 rs886052623 17:1588136-1588136 17:1684842-1684842 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*967C>T SNV Uncertain significance 320032 rs796880965 16:57917101-57917101 16:57883197-57883197 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*820G>A SNV Uncertain significance 320039 rs184852651 16:57917248-57917248 16:57883344-57883344 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*730C>A SNV Uncertain significance 320041 rs554017838 16:57917338-57917338 16:57883434-57883434 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*720A>G SNV Uncertain significance 320042 rs547306682 16:57917348-57917348 16:57883444-57883444 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*601G>A SNV Uncertain significance 320044 rs574111364 16:57917467-57917467 16:57883563-57883563 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.2790C>T (p.Ala930=) SNV Uncertain significance 321899 rs779910932 17:1578996-1578996 17:1675702-1675702 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1770C>G (p.Asp590Glu) SNV Uncertain significance 320089 rs770735553 16:57954322-57954322 16:57920418-57920418 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1500C>T (p.Thr500=) SNV Uncertain significance 320092 rs75406397 16:57965655-57965655 16:57931751-57931751 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1149G>T (p.Ser383=) SNV Uncertain significance 320098 rs775050027 16:57974198-57974198 16:57940294-57940294 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.*11G>T SNV Uncertain significance 321868 rs767915818 17:1554085-1554085 17:1650791-1650791 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.647G>A (p.Arg216Gln) SNV Uncertain significance 317237 rs200488706 15:89755011-89755011 15:89211780-89211780 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.353T>G (p.Val118Gly) SNV Uncertain significance 317238 rs762121817 15:89758463-89758463 15:89215232-89215232 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.107C>T (p.Pro36Leu) SNV Uncertain significance 317244 rs200143313 15:89761830-89761830 15:89218599-89218599 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.-233G>A SNV Uncertain significance 317250 rs886051504 15:89764775-89764775 15:89221544-89221544 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*1606G>A SNV Uncertain significance 320020 rs185229037 16:57916462-57916462 16:57882558-57882558 RTN008 Retinitis Pigmentosa PDE6G NM_002602.4(PDE6G):c.14C>T (p.Pro5Leu) SNV Uncertain significance 325861 rs762125725 17:79620322-79620322 17:81653292-81653292 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.321G>A (p.Lys107=) SNV Uncertain significance 317008 rs886051450 15:72104181-72104181 15:71811841-71811841 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.332C>T (p.Ala111Val) SNV Uncertain significance 317009 rs759381786 15:72104192-72104192 15:71811852-71811852 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.*101T>C SNV Uncertain significance 317021 rs886051453 15:72110126-72110126 15:71817785-71817785 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.*453G>T SNV Uncertain significance 317027 rs886051457 15:72110478-72110478 15:71818137-71818137 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*281T>C SNV Uncertain significance 320047 rs116564376 16:57917787-57917787 16:57883883-57883883 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.3366G>A (p.Lys1122=) SNV Uncertain significance 320062 rs751822516 16:57921855-57921855 16:57887951-57887951 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2501G>T (p.Arg834Leu) SNV Uncertain significance 320076 rs761295014 16:57938771-57938771 16:57904867-57904867 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2091A>G (p.Leu697=) SNV Uncertain significance 320081 rs767102177 16:57951247-57951247 16:57917343-57917343 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2030G>T (p.Arg677Leu) SNV Uncertain significance 320082 rs375519490 16:57951308-57951308 16:57917404-57917404 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.455C>T (p.Pro152Leu) SNV Uncertain significance 317015 rs371853056 15:72104400-72104400 15:71812060-71812060 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.*144A>T SNV Uncertain significance 317022 rs886051454 15:72110169-72110169 15:71817828-71817828 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*1347C>T SNV Uncertain significance 325498 rs780340686 17:74541079-74541079 17:76544997-76544997 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*1650T>C SNV Uncertain significance 325506 rs185494982 17:74541382-74541382 17:76545300-76545300 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.-104T>G SNV Uncertain significance 317247 rs886051502 15:89762971-89762971 15:89219740-89219740 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*260C>T SNV Uncertain significance 325476 rs773379904 17:74539992-74539992 17:76543910-76543910 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*265C>T SNV Uncertain significance 325477 rs541445094 17:74539997-74539997 17:76543915-76543915 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*605G>A SNV Uncertain significance 325483 rs886053477 17:74540337-74540337 17:76544255-76544255 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*683G>A SNV Uncertain significance 329718 rs867379668 19:48343907-48343907 19:47840650-47840650 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*756T>A SNV Uncertain significance 329722 rs886054553 19:48343980-48343980 19:47840723-47840723 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*1149G>A SNV Uncertain significance 329737 rs886054555 19:48344373-48344373 19:47841116-47841116 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*839C>T SNV Uncertain significance 329726 rs541379131 19:48344063-48344063 19:47840806-47840806 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*908G>A SNV Uncertain significance 329729 rs886054554 19:48344132-48344132 19:47840875-47840875 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.1297G>A (p.Val433Ile) SNV Uncertain significance 330108 rs201906830 19:54632668-54632668 19:54129293-54129293 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*809C>G SNV Uncertain significance 329725 rs574128797 19:48344033-48344033 19:47840776-47840776 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2113A>G SNV Uncertain significance 329754 rs555800382 19:48345337-48345337 19:47842080-47842080 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2573C>T SNV Uncertain significance 329766 rs886054559 19:48345797-48345797 19:47842540-47842540 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2821G>A SNV Uncertain significance 329773 rs571610746 19:48346045-48346045 19:47842788-47842788 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.1082G>A (p.Arg361Gln) SNV Uncertain significance 338013 rs145651330 20:2639473-2639473 20:2658827-2658827 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.1014T>C (p.Leu338=) SNV Uncertain significance 338016 rs886056569 20:2640228-2640228 20:2659582-2659582 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.830T>C (p.Ile277Thr) SNV Uncertain significance 338020 rs761437016 20:2640761-2640761 20:2660115-2660115 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.624G>C (p.Lys208Asn) SNV Uncertain significance 338022 rs148250924 20:2641144-2641144 20:2660498-2660498 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.-55C>T SNV Uncertain significance 329691 rs886054543 19:48325248-48325248 19:47821991-47821991 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.105C>A (p.Ala35=) SNV Uncertain significance 329696 rs886054545 19:48339504-48339504 19:47836247-47836247 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*234G>A SNV Uncertain significance 329704 rs754333326 19:48343458-48343458 19:47840201-47840201 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.*1947C>G SNV Uncertain significance 368323 rs781995791 X:46741151-46741151 X:46881716-46881716 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.78G>A (p.Met26Ile) SNV Uncertain significance 329694 rs886054544 19:48337778-48337778 19:47834521-47834521 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.857T>C (p.Leu286Pro) SNV Uncertain significance 329699 rs886054547 19:48343181-48343181 19:47839924-47839924 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*1411G>A SNV Uncertain significance 325502 rs773610638 17:74541143-74541143 17:76545061-76545061 RTN008 Retinitis Pigmentosa PDE6G NM_002602.4(PDE6G):c.-100A>G SNV Uncertain significance 325863 rs761456753 17:79623563-79623563 17:81656533-81656533 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.389A>G (p.His130Arg) SNV Uncertain significance 324619 rs750182458 17:6331714-6331714 17:6428394-6428394 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.73C>A (p.Pro25Thr) SNV Uncertain significance 324623 rs886053268 17:6338352-6338352 17:6435032-6435032 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*764C>T SNV Uncertain significance 325487 rs886053479 17:74540496-74540496 17:76544414-76544414 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*881G>A SNV Uncertain significance 325488 rs757028440 17:74540613-74540613 17:76544531-76544531 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*1238G>A SNV Uncertain significance 325494 rs189599263 17:74540970-74540970 17:76544888-76544888 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*1480C>G SNV Uncertain significance 325504 rs139602114 17:74541212-74541212 17:76545130-76545130 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*1509G>A SNV Uncertain significance 325505 rs777248455 17:74541241-74541241 17:76545159-76545159 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*1714C>T SNV Uncertain significance 325507 rs886053482 17:74541446-74541446 17:76545364-76545364 RTN008 Retinitis Pigmentosa CA4 NM_000717.5(CA4):c.*78T>C SNV Uncertain significance 324239 rs372423531 17:58236863-58236863 17:60159502-60159502 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.*1679G>C SNV Uncertain significance 324567 rs886053254 17:6327101-6327101 17:6423781-6423781 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.*1455G>T SNV Uncertain significance 324574 rs886053257 17:6327325-6327325 17:6424005-6424005 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.*150A>C SNV Uncertain significance 324605 rs886053266 17:6328630-6328630 17:6425310-6425310 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.785-11G>A SNV Uncertain significance 324612 rs199772097 17:6329161-6329161 17:6425841-6425841 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*266C>T SNV Uncertain significance 325478 rs72860161 17:74539998-74539998 17:76543916-76543916 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*1097T>A SNV Uncertain significance 325491 rs76768775 17:74540829-74540829 17:76544747-76544747 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*1343C>T SNV Uncertain significance 325497 rs886053481 17:74541075-74541075 17:76544993-76544993 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.2756T>C (p.Ile919Thr) SNV Uncertain significance 339489 rs773239629 20:62664276-62664276 20:64032923-64032923 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.514A>G (p.Ser172Gly) SNV Uncertain significance 368306 rs782217142 X:46713322-46713322 X:46853887-46853887 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.57G>A (p.Pro19=) SNV Uncertain significance 339462 rs779283679 20:62612655-62612655 20:63981302-63981302 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.616-10T>G SNV Uncertain significance 339466 rs376559986 20:62626670-62626670 20:63995317-63995317 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.1164A>G (p.Ala388=) SNV Uncertain significance 339470 rs201984924 20:62632570-62632570 20:64001217-64001217 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.1492G>A (p.Gly498Ser) SNV Uncertain significance 339475 rs886056961 20:62642824-62642824 20:64011471-64011471 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.-82C>T SNV Uncertain significance 339455 rs534743637 20:62612517-62612517 20:63981164-63981164 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.2688G>T (p.Glu896Asp) SNV Uncertain significance 339487 rs140112205 20:62664208-62664208 20:64032855-64032855 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.*212A>G SNV Uncertain significance 338009 rs886056567 20:2639185-2639185 20:2658539-2658539 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.*203T>C SNV Uncertain significance 338010 rs546467756 20:2639194-2639194 20:2658548-2658548 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.399-12G>T SNV Uncertain significance 338025 rs781697514 20:2641487-2641487 20:2660841-2660841 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2785C>T SNV Uncertain significance 329772 rs886054560 19:48346009-48346009 19:47842752-47842752 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2850G>A SNV Uncertain significance 329774 rs769789306 19:48346074-48346074 19:47842817-47842817 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2889G>A SNV Uncertain significance 329776 rs886054561 19:48346113-48346113 19:47842856-47842856 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.697+10C>T SNV Uncertain significance 330099 rs369722854 19:54627307-54627307 19:54123928-54123928 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.855+14G>A SNV Uncertain significance 330102 rs370512426 19:54628049-54628049 19:54124670-54124670 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.1103A>G (p.His368Arg) SNV Uncertain significance 339469 rs886056960 20:62632509-62632509 20:64001156-64001156 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.926G>A (p.Arg309His) SNV Uncertain significance 374176 rs775023296 17:1584289-1584289 17:1680995-1680995 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.*1081C>T SNV Uncertain significance 368315 rs782529175 X:46740285-46740285 X:46880850-46880850 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.*1098G>A SNV Uncertain significance 368316 rs181617714 X:46740302-46740302 X:46880867-46880867 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.*1447T>C SNV Uncertain significance 368317 rs1057515894 X:46740651-46740651 X:46881216-46881216 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.*1458G>A SNV Uncertain significance 368318 rs1057515895 X:46740662-46740662 X:46881227-46881227 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.*1926G>A SNV Uncertain significance 368322 rs782390676 X:46741130-46741130 X:46881695-46881695 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.14276G>A (p.Gly4759Glu) SNV Likely benign 177913 rs112459877 1:215824001-215824001 1:215650659-215650659 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.12505A>G (p.Thr4169Ala) SNV Likely benign 166435 rs113107803 1:215848748-215848748 1:215675406-215675406 RTN008 Retinitis Pigmentosa PRPF3 NM_004698.4(PRPF3):c.729-15C>T SNV Likely benign 292497 rs587746193 1:150307391-150307391 1:150334920-150334920 RTN008 Retinitis Pigmentosa DHDDS NM_024887.3(DHDDS):c.-119G>A SNV Likely benign 297070 rs115681222 1:26758804-26758804 1:26432313-26432313 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*629C>T SNV Likely benign 297089 rs2494394 1:26796251-26796251 1:26469760-26469760 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.-34G>A SNV Likely benign 330739 rs141412373 2:112656279-112656279 2:111898702-111898702 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*472A>T SNV Likely benign 332994 rs193186986 2:182402439-182402439 2:181537712-181537712 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2882C>T (p.Ala961Val) SNV Likely benign 100569 rs112002818 16:57935442-57935442 16:57901538-57901538 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.277-14G>A SNV Likely benign 99797 rs117749485 17:6331840-6331840 17:6428520-6428520 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.1362G>A (p.Thr454=) SNV Likely benign 99661 rs41270076 6:35467891-35467891 6:35500114-35500114 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.2256T>C (p.His752=) SNV Likely benign 48486 rs111033281 1:216420480-216420480 1:216247138-216247138 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) SNV Likely benign 48481 rs146824138 1:216462627-216462627 1:216289285-216289285 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.1389C>T (p.Thr463=) SNV Likely benign 913452 9:32543134-32543134 9:32543136-32543136 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.814A>G (p.Met272Val) SNV Likely benign 912745 X:46719468-46719468 X:46860033-46860033 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.2234C>G (p.Ser745Cys) SNV Likely benign 915055 9:32542289-32542289 9:32542291-32542291 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.*544G>A SNV Likely benign 909778 7:128032517-128032517 7:128392463-128392463 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.4250T>C (p.Leu1417Pro) SNV Likely benign 912236 8:55540692-55540692 8:54628132-54628132 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.487G>A (p.Asp163Asn) SNV Likely benign 910048 8:55534013-55534013 8:54621453-54621453 RTN008 Retinitis Pigmentosa RP9 NM_203288.2(RP9):c.*317G>A SNV Likely benign 909960 7:33134529-33134529 7:33094917-33094917 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*983G>A SNV Likely benign 335616 rs74315958 2:29286752-29286752 2:29063886-29063886 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1704A>G SNV Likely benign 335598 rs72788189 2:29286031-29286031 2:29063165-29063165 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1601G>A SNV Likely benign 335600 rs72861029 2:29286134-29286134 2:29063268-29063268 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*1595G>A SNV Likely benign 342301 rs59589993 3:100944218-100944218 3:101225374-101225374 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.*26C>T SNV Likely benign 336732 rs61743113 2:62053564-62053564 2:61826429-61826429 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*1282C>T SNV Likely benign 342307 rs116405398 3:100944531-100944531 3:101225687-101225687 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*446G>A SNV Likely benign 342319 rs115295966 3:100945367-100945367 3:101226523-101226523 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*444G>A SNV Likely benign 342320 rs115229467 3:100945369-100945369 3:101226525-101226525 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*1954G>A SNV Likely benign 342298 rs113855688 3:100943859-100943859 3:101225015-101225015 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*2885C>A SNV Likely benign 342287 rs77671634 3:100942928-100942928 3:101224084-101224084 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*686A>T SNV Likely benign 335622 rs116550481 2:29287049-29287049 2:29064183-29064183 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*260A>G SNV Likely benign 342330 rs73863023 3:100945553-100945553 3:101226709-101226709 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*2300C>T SNV Likely benign 335586 rs115478100 2:29285435-29285435 2:29062569-29062569 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*2293G>C SNV Likely benign 335587 rs1562394 2:29285442-29285442 2:29062576-29062576 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*2209G>A SNV Likely benign 335589 rs77448535 2:29285526-29285526 2:29062660-29062660 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*2584C>T SNV Likely benign 335579 rs79961309 2:29285151-29285151 2:29062285-29062285 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*286G>T SNV Likely benign 335631 rs78759931 2:29287449-29287449 2:29064583-29064583 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.-16C>G SNV Likely benign 336746 rs184556352 2:62081192-62081192 2:61854057-61854057 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.*101A>G SNV Likely benign 337521 rs184527047 2:96940649-96940649 2:96274911-96274911 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*3049G>A SNV Likely benign 342285 rs112062476 3:100942764-100942764 3:101223920-101223920 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.959C>A (p.Thr320Asn) SNV Likely benign 343282 rs138831590 3:129252473-129252473 3:129533630-129533630 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.624C>T (p.Phe208=) SNV Likely benign 343280 rs113751838 3:129251187-129251187 3:129532344-129532344 RTN008 Retinitis Pigmentosa PRPF3 NM_004698.4(PRPF3):c.976A>G (p.Thr326Ala) SNV Likely benign 876146 1:150307653-150307653 1:150335182-150335182 RTN008 Retinitis Pigmentosa PRPF3 NM_004698.4(PRPF3):c.*149C>G SNV Likely benign 875230 1:150325604-150325604 1:150353128-150353128 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*623G>A SNV Likely benign 873650 1:26796245-26796245 1:26469754-26469754 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.1905+1082AAG[2] short repeat Likely benign 803965 X:38145257-38145259 X:38286004-38286006 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.3447-12C>T SNV Likely benign 889760 17:1576873-1576873 17:1673579-1673579 RTN008 Retinitis Pigmentosa CA4 NM_000717.5(CA4):c.128G>T (p.Gly43Val) SNV Likely benign 890022 17:58233936-58233936 17:60156575-60156575 RTN008 Retinitis Pigmentosa NR2E3 NC_000015.10:g.71810534C>T SNV Likely benign 888357 15:72102874-72102874 RTN008 Retinitis Pigmentosa PDE6G NM_002602.4(PDE6G):c.*563T>C SNV Likely benign 889969 17:79617541-79617541 17:81650511-81650511 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.2382C>T (p.Tyr794=) SNV Likely benign 892497 17:1579805-1579805 17:1676511-1676511 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.5466C>T (p.Ile1822=) SNV Likely benign 891254 17:1561586-1561586 17:1658292-1658292 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.*125G>A SNV Likely benign 892394 17:1553971-1553971 17:1650677-1650677 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.292C>T (p.Pro98Ser) SNV Likely benign 884343 16:57996967-57996967 16:57963063-57963063 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2514T>C (p.Phe838=) SNV Likely benign 887180 16:57938758-57938758 16:57904854-57904854 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.3527C>T (p.Pro1176Leu) SNV Likely benign 886099 16:57918297-57918297 16:57884393-57884393 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.*219C>T SNV Likely benign 880451 10:48381686-48381686 10:47357676-47357676 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.*341T>C SNV Likely benign 875991 1:68895118-68895118 1:68429435-68429435 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.*680G>A SNV Likely benign 876922 1:68894779-68894779 1:68429096-68429096 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.2898C>T (p.Ser966=) SNV Likely benign 878712 10:48387980-48387980 10:47351382-47351382 RTN008 Retinitis Pigmentosa ROM1 NM_000327.4(ROM1):c.422T>C (p.Leu141Ser) SNV Likely benign 879373 11:62381175-62381175 11:62613703-62613703 RTN008 Retinitis Pigmentosa ROM1 NM_000327.4(ROM1):c.703G>A (p.Ala235Thr) SNV Likely benign 879753 11:62381842-62381842 11:62614370-62614370 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*675G>A SNV Likely benign 886046 16:57917393-57917393 16:57883489-57883489 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*595C>G SNV Likely benign 887037 16:57917473-57917473 16:57883569-57883569 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*1671A>G SNV Likely benign 886979 16:57916397-57916397 16:57882493-57882493 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1382G>A (p.Cys461Tyr) SNV Likely benign 763838 6:66063428-66063428 6:65353535-65353535 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.801C>T (p.Val267=) SNV Likely benign 724373 20:62630427-62630427 20:63999074-63999074 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.4464A>T (p.Thr1488=) SNV Likely benign 714111 17:1564331-1564331 17:1661037-1661037 RTN008 Retinitis Pigmentosa CACNA1F NM_001256789.3(CACNA1F):c.867G>A (p.Gly289=) SNV Likely benign 427875 rs199981245 X:49084860-49084860 X:49228398-49228398 RTN008 Retinitis Pigmentosa KIAA1549 NM_001164665.2(KIAA1549):c.5103C>T (p.Ser1701=) SNV Likely benign 427874 rs1554411380 7:138546029-138546029 7:138861283-138861283 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.1320C>T (p.Thr440=) SNV Likely benign 894693 19:54632691-54632691 19:54129316-54129316 RTN008 Retinitis Pigmentosa CA4 NM_000717.5(CA4):c.435A>G (p.Lys145=) SNV Likely benign 891580 17:58235071-58235071 17:60157710-60157710 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.*100C>T SNV Likely benign 898978 2:96940650-96940650 2:96274912-96274912 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.*37A>G SNV Likely benign 898979 2:96940713-96940713 2:96274975-96274975 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.-108G>A SNV Likely benign 898693 2:27603501-27603501 2:27380634-27380634 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.4393-10C>T SNV Likely benign 899045 2:96949752-96949752 2:96284014-96284014 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*778A>T SNV Likely benign 898887 2:29286957-29286957 2:29064091-29064091 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1145G>A SNV Likely benign 897733 2:29286590-29286590 2:29063724-29063724 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1748C>T SNV Likely benign 898820 2:29285987-29285987 2:29063121-29063121 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1742G>C SNV Likely benign 898821 2:29285993-29285993 2:29063127-29063127 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.*151C>A SNV Likely benign 892706 19:54635014-54635014 19:54131583-54131583 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*3382G>A SNV Likely benign 899854 4:155673670-155673670 4:154752518-154752518 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.-199G>T SNV Likely benign 902343 4:155665177-155665177 4:154744025-154744025 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*2869C>T SNV Likely benign 901247 3:100942944-100942944 3:101224100-101224100 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*3041A>G SNV Likely benign 895713 2:29284694-29284694 2:29061828-29061828 RTN008 Retinitis Pigmentosa CNGA1 NC_000004.12:g.47981469C>T SNV Likely benign 900313 4:47983486-47983486 4:47981469-47981469 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*169T>C SNV Likely benign 907804 5:149240289-149240289 5:149860726-149860726 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*2525A>C SNV Likely benign 905159 5:149237933-149237933 5:149858370-149858370 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.15T>G (p.Phe5Leu) SNV Likely benign 911289 6:42162544-42162544 6:42194806-42194806 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.-42C>T SNV Likely benign 905928 5:149324278-149324278 5:149944715-149944715 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*362G>A SNV Likely benign 910191 6:42152191-42152191 6:42184453-42184453 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.-78G>A SNV Likely benign 339457 rs189115287 20:62612521-62612521 20:63981168-63981168 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.-21G>T SNV Likely benign 330091 rs373430109 19:54619165-54619165 19:54115785-54115785 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.2496T>C (p.Asp832=) SNV Likely benign 339485 rs190821097 20:62660794-62660794 20:64029441-64029441 RTN008 Retinitis Pigmentosa PDE6G NM_002602.4(PDE6G):c.*526C>T SNV Likely benign 325851 rs114250932 17:79617578-79617578 17:81650548-81650548 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.*154C>T SNV Likely benign 330116 rs141548037 19:54635017-54635017 19:54131586-54131586 RTN008 Retinitis Pigmentosa CA4 NM_000717.5(CA4):c.235C>A (p.Gln79Lys) SNV Likely benign 324228 rs531909330 17:58234043-58234043 17:60156682-60156682 RTN008 Retinitis Pigmentosa CA4 NM_000717.5(CA4):c.357C>T (p.Ser119=) SNV Likely benign 324230 rs765898059 17:58234876-58234876 17:60157515-60157515 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.-44G>C SNV Likely benign 368304 rs186256592 X:46696492-46696492 X:46837057-46837057 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*1148G>C SNV Likely benign 329736 rs139073763 19:48344372-48344372 19:47841115-47841115 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*933G>A SNV Likely benign 325490 rs73998961 17:74540665-74540665 17:76544583-76544583 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*1228C>G SNV Likely benign 320029 rs1477406 16:57916840-57916840 16:57882936-57882936 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.3657+13C>T SNV Likely benign 321891 rs141542320 17:1576638-1576638 17:1673344-1673344 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*244A>G SNV Likely benign 320048 rs112033454 16:57917824-57917824 16:57883920-57883920 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.1289+13C>T SNV Likely benign 321911 rs199729224 17:1582890-1582890 17:1679596-1679596 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2481C>T (p.Gly827=) SNV Likely benign 320077 rs77399988 16:57945668-57945668 16:57911764-57911764 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.-22G>C SNV Likely benign 321924 rs185356676 17:1588084-1588084 17:1684790-1684790 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.1074-6C>A SNV Likely benign 330103 rs587594853 19:54631674-54631674 19:54128299-54128299 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.1186+13C>T SNV Likely benign 339471 rs376567998 20:62632605-62632605 20:64001252-64001252 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*918C>A SNV Likely benign 320034 rs78514298 16:57917150-57917150 16:57883246-57883246 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*1462A>G SNV Likely benign 320022 rs78908517 16:57916606-57916606 16:57882702-57882702 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2517T>C (p.Ala839=) SNV Likely benign 320075 rs17821412 16:57938755-57938755 16:57904851-57904851 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.105G>A (p.Ala35=) SNV Likely benign 320114 rs61997250 16:58001086-58001086 16:57967182-57967182 RTN008 Retinitis Pigmentosa NRL NM_006177.5(NRL):c.*472C>T SNV Likely benign 312933 rs555330815 14:24549973-24549973 14:24080764-24080764 RTN008 Retinitis Pigmentosa NRL NM_006177.5(NRL):c.-25G>C SNV Likely benign 312942 rs771610707 14:24552082-24552082 14:24082873-24082873 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.49C>T (p.Arg17Cys) SNV Likely benign 325472 rs375181336 17:74536272-74536272 17:76540190-76540190 RTN008 Retinitis Pigmentosa CA4 NM_000717.5(CA4):c.761A>C (p.Gln254Pro) SNV Likely benign 324237 rs150432787 17:58236607-58236607 17:60159246-60159246 RTN008 Retinitis Pigmentosa CA4 NM_000717.5(CA4):c.807T>C (p.Asn269=) SNV Likely benign 324238 rs142961963 17:58236653-58236653 17:60159292-60159292 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.3378C>T (p.Gly1126=) SNV Likely benign 320061 rs11867123 16:57921843-57921843 16:57887939-57887939 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*493C>T SNV Likely benign 320045 rs73562940 16:57917575-57917575 16:57883671-57883671 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.1206G>A (p.Ser402=) SNV Likely benign 330106 rs147663541 19:54632491-54632491 19:54129116-54129116 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.*152G>A SNV Likely benign 330114 rs62144169 19:54635015-54635015 19:54131584-54131584 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.*235A>G SNV Likely benign 338008 rs8296 20:2639162-2639162 20:2658516-2658516 RTN008 Retinitis Pigmentosa NRL NM_006177.5(NRL):c.*113C>A SNV Likely benign 312938 rs3560 14:24550332-24550332 14:24081123-24081123 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.*2C>T SNV Likely benign 321869 rs147941247 17:1554094-1554094 17:1650800-1650800 RTN008 Retinitis Pigmentosa NRL NM_006177.5(NRL):c.*108C>T SNV Likely benign 312939 rs552709917 14:24550337-24550337 14:24081128-24081128 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.-206C>T SNV Likely benign 359793 rs184270958 7:23145440-23145440 7:23105821-23105821 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.*377G>A SNV Likely benign 359809 rs142087633 7:23214294-23214294 7:23174675-23174675 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.*1123A>C SNV Likely benign 359818 rs752275483 7:23215040-23215040 7:23175421-23175421 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.-54A>C SNV Likely benign 356739 rs184508322 6:42162612-42162612 6:42194874-42194874 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*832G>A SNV Likely benign 356710 rs568172984 6:42151721-42151721 6:42183983-42183983 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.1238A>C (p.Gln413Pro) SNV Likely benign 366571 rs61758062 9:32543285-32543285 9:32543287-32543287 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.912G>T (p.Lys304Asn) SNV Likely benign 363279 rs189145468 8:55537354-55537354 8:54624794-54624794 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2938G>A (p.Gly980Ser) SNV Likely benign 363287 rs202226256 8:55539380-55539380 8:54626820-54626820 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.-38G>A SNV Likely benign 359795 rs200506606 7:23145608-23145608 7:23105989-23105989 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.-16A>G SNV Likely benign 359796 rs563311203 7:23145630-23145630 7:23106011-23106011 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.*898A>T SNV Likely benign 359814 rs557309443 7:23214815-23214815 7:23175196-23175196 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.*1052T>C SNV Likely benign 359817 rs572464135 7:23214969-23214969 7:23175350-23175350 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.-231G>C SNV Likely benign 359791 rs556626844 7:23145415-23145415 7:23105796-23105796 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.2567A>G (p.Lys856Arg) SNV Likely benign 366562 rs181426035 9:32541956-32541956 9:32541958-32541958 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.*7A>G SNV Likely benign 359802 rs112802878 7:23213924-23213924 7:23174305-23174305 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.5335A>T (p.Asn1779Tyr) SNV Likely benign 363306 rs748293359 8:55541777-55541777 8:54629217-54629217 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.5624G>C (p.Gly1875Ala) SNV Likely benign 363308 rs150728667 8:55542066-55542066 8:54629506-54629506 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2894G>T (p.Ser965Ile) SNV Likely benign 363286 rs201110322 8:55539336-55539336 8:54626776-54626776 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.-106G>A SNV Likely benign 363274 rs142681427 8:55528669-55528669 8:54616109-54616109 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2385C>T (p.Ile795=) SNV Likely benign 363282 rs184739468 8:55538827-55538827 8:54626267-54626267 RTN008 Retinitis Pigmentosa ROM1 NM_000327.3(ROM1):c.397C>T (p.Leu133=) SNV Likely benign 305163 rs566866016 11:62381150-62381150 11:62613678-62613678 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.*133T>C SNV Likely benign 305133 rs1801621 11:61731727-61731727 11:61964255-61964255 RTN008 Retinitis Pigmentosa FTH1 NM_004183.4(BEST1):c.*133T>C SNV Likely benign 305133 rs1801621 11:61731727-61731727 11:61964255-61964255 RTN008 Retinitis Pigmentosa NRL NM_006177.5(NRL):c.*213C>A SNV Likely benign 312936 rs79489503 14:24550232-24550232 14:24081023-24081023 RTN008 Retinitis Pigmentosa ROM1 NM_000327.3(ROM1):c.-494G>A SNV Likely benign 305152 rs3825019 11:62380260-62380260 11:62612788-62612788 RTN008 Retinitis Pigmentosa ROM1 NM_000327.3(ROM1):c.-482G>C SNV Likely benign 305154 rs572174792 11:62380272-62380272 11:62612800-62612800 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.926G>A (p.Arg309Gln) SNV Likely benign 349366 rs145756948 4:647942-647942 4:654153-654153 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*2853C>G SNV Likely benign 351937 rs73796297 5:149237605-149237605 5:149858042-149858042 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*2229C>T SNV Likely benign 351946 rs115656079 5:149238229-149238229 5:149858666-149858666 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.647A>G (p.Asn216Ser) SNV Likely benign 351997 rs10057110 5:149313563-149313563 5:149934000-149934000 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*2662A>G SNV Likely benign 351940 rs150127383 5:149237796-149237796 5:149858233-149858233 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.*98G>A SNV Likely benign 359804 rs183472096 7:23214015-23214015 7:23174396-23174396 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*1018C>T SNV Likely benign 356705 rs45569036 6:42151535-42151535 6:42183797-42183797 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.969C>T (p.Cys323=) SNV Benign/Likely benign 343283 rs142771862 3:129252483-129252483 3:129533640-129533640 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.1908T>C (p.Asp636=) SNV Benign/Likely benign 342347 rs35648234 3:100963267-100963267 3:101244423-101244423 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*205C>T SNV Benign/Likely benign 343288 rs202215179 3:129252766-129252766 3:129533923-129533923 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*1200T>C SNV Benign/Likely benign 343308 rs538744995 3:129253761-129253761 3:129534918-129534918 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*1338T>G SNV Benign/Likely benign 347865 rs12507608 4:155671626-155671626 4:154750474-154750474 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*467A>G SNV Benign/Likely benign 343294 rs148165044 3:129253028-129253028 3:129534185-129534185 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.5134-6C>G SNV Benign/Likely benign 337537 rs3214062 2:96944742-96944742 2:96279004-96279004 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.4080A>T (p.Ala1360=) SNV Benign/Likely benign 337543 rs547112938 2:96951002-96951002 2:96285264-96285264 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.1854T>C (p.His618=) SNV Benign/Likely benign 337556 rs147622706 2:96959236-96959236 2:96293498-96293498 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.152G>C (p.Gly51Ala) SNV Benign/Likely benign 343274 rs149079952 3:129247728-129247728 3:129528885-129528885 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.201C>T (p.Cys67=) SNV Benign/Likely benign 335066 rs72976383 2:234229295-234229295 2:233320649-233320649 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.5943T>C (p.Ser1981=) SNV Benign/Likely benign 337529 rs754294342 2:96942968-96942968 2:96277230-96277230 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.*89C>T SNV Benign/Likely benign 335076 rs78338185 2:234255647-234255647 2:233347001-233347001 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.199G>A (p.Ala67Thr) SNV Benign/Likely benign 333014 rs61733527 2:182521535-182521535 2:181656808-181656808 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.381C>G (p.Ser127=) SNV Benign/Likely benign 343276 rs146311684 3:129249738-129249738 3:129530895-129530895 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.*276C>T SNV Benign/Likely benign 910679 7:128032785-128032785 7:128392731-128392731 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*1811A>G SNV Benign/Likely benign 915106 8:96258034-96258034 8:95245806-95245806 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*1667T>C SNV Benign/Likely benign 912405 8:96258178-96258178 8:95245950-95245950 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*2094C>T SNV Benign/Likely benign 913482 8:96257751-96257751 8:95245523-95245523 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*1604C>G SNV Benign/Likely benign 913523 8:96258241-96258241 8:95246013-95246013 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*644C>G SNV Benign/Likely benign 915152 8:96259201-96259201 8:95246973-95246973 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*1372C>A SNV Benign/Likely benign 908443 6:42664661-42664661 6:42696923-42696923 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.483C>T (p.Ile161=) SNV Benign/Likely benign 909080 6:42689590-42689590 6:42721852-42721852 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln) SNV Benign/Likely benign 3362 rs41265017 1:156146640-156146640 1:156176849-156176849 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.2109T>C (p.Asp703=) SNV Benign/Likely benign 48483 rs45555435 1:216424303-216424303 1:216250961-216250961 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) SNV Benign/Likely benign 48484 rs696723 1:216424275-216424275 1:216250933-216250933 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.1731C>T (p.Cys577=) SNV Benign/Likely benign 48474 rs41313732 1:216465626-216465626 1:216292284-216292284 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.1931A>T (p.Asp644Val) SNV Benign/Likely benign 48478 rs1805048 1:216462662-216462662 1:216289320-216289320 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2953A>T (p.Asn985Tyr) SNV Benign/Likely benign 5969 rs2293869 8:55539395-55539395 8:54626835-54626835 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) SNV Benign/Likely benign 5970 rs77775126 8:55537560-55537560 8:54625000-54625000 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.196G>A (p.Val66Ile) SNV Benign/Likely benign 99597 rs61748438 19:48339595-48339595 19:47836338-47836338 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.472G>A (p.Ala158Thr) SNV Benign/Likely benign 99608 rs61748445 19:48342796-48342796 19:47839539-47839539 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.365G>A (p.Gly122Asp) SNV Benign/Likely benign 99604 rs61748441 19:48342689-48342689 19:47839432-47839432 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.1023C>T (p.Pro341=) SNV Benign/Likely benign 99676 rs1801390 11:61727438-61727438 11:61959966-61959966 RTN008 Retinitis Pigmentosa FTH1 NM_004183.4(BEST1):c.1023C>T (p.Pro341=) SNV Benign/Likely benign 99676 rs1801390 11:61727438-61727438 11:61959966-61959966 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.1155G>A (p.Thr385=) SNV Benign/Likely benign 98828 rs62653014 1:68897242-68897242 1:68431559-68431559 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.1302G>C (p.Ala434=) SNV Benign/Likely benign 98837 rs62636301 1:68897001-68897001 1:68431318-68431318 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.60A>T (p.Arg20Ser) SNV Benign/Likely benign 95372 rs35898499 2:112656372-112656372 2:111898795-111898795 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.4165G>A (p.Val1389Ile) SNV Benign/Likely benign 95552 rs143898031 2:96950323-96950323 2:96284585-96284585 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.6098G>A (p.Cys2033Tyr) SNV Benign/Likely benign 95357 rs61739567 8:55542540-55542540 8:54629980-54629980 RTN008 Retinitis Pigmentosa RPGR NM_000328.3(RPGR):c.865A>G (p.Ile289Val) SNV Benign/Likely benign 98806 rs62640587 X:38163957-38163957 X:38304704-38304704 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp) SNV Benign/Likely benign 98664 rs61754402 6:42690036-42690036 6:42722298-42722298 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) SNV Benign/Likely benign 92859 rs61752901 1:68904742-68904742 1:68439059-68439059 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.4440C>T (p.Ser1480=) SNV Benign/Likely benign 48516 rs111632670 1:216348781-216348781 1:216175439-216175439 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) SNV Benign/Likely benign 65708 rs61757484 17:6328809-6328809 17:6425489-6425489 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.606A>G (p.Glu202=) SNV Benign/Likely benign 93703 rs76788887 16:57993947-57993947 16:57960043-57960043 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.712G>A (p.Gly238Ser) SNV Benign/Likely benign 93704 rs61745888 16:57993841-57993841 16:57959937-57959937 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.5977A>G (p.Thr1993Ala) SNV Benign/Likely benign 93619 rs115066356 6:65098684-65098684 6:64388791-64388791 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile) SNV Benign/Likely benign 99801 rs8069375 17:6331762-6331762 17:6428442-6428442 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.651A>G (p.Pro217=) SNV Benign/Likely benign 99805 rs2292546 17:6330068-6330068 17:6426748-6426748 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.143G>A (p.Arg48Gln) SNV Benign/Likely benign 100563 rs113842820 4:619558-619558 4:625769-625769 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.253G>A (p.Val85Met) SNV Benign/Likely benign 100571 rs137853903 6:42156424-42156424 6:42188686-42188686 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1768-5C>T SNV Benign/Likely benign 100578 rs55708318 4:15994019-15994019 4:15992396-15992396 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.2306G>A (p.Arg769His) SNV Benign/Likely benign 99878 rs62636287 1:197396761-197396761 1:197427631-197427631 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.3992G>A (p.Arg1331His) SNV Benign/Likely benign 99906 rs62636285 1:197411409-197411409 1:197442279-197442279 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.268G>C (p.Asp90His) SNV Benign/Likely benign 99794 rs12449580 17:6337247-6337247 17:6433927-6433927 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.277-10A>C SNV Benign/Likely benign 99796 rs12453262 17:6331836-6331836 17:6428516-6428516 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.619C>A (p.Leu207Ile) SNV Benign/Likely benign 99727 rs74653691 11:61724453-61724453 11:61956981-61956981 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg) SNV Benign/Likely benign 137265 rs61753610 6:66044927-66044927 6:65335034-65335034 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1809C>T (p.Val603=) SNV Benign/Likely benign 137266 rs9345601 6:66005970-66005970 6:65296077-65296077 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.4093A>G (p.Lys1365Glu) SNV Benign/Likely benign 137247 rs16895519 6:65301667-65301667 6:64591774-64591774 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.334G>A (p.Val112Ile) SNV Benign/Likely benign 137260 rs112609906 6:66204970-66204970 6:65495077-65495077 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.873T>C (p.Ser291=) SNV Benign/Likely benign 138639 rs142597807 4:647889-647889 4:654100-654100 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.915G>A (p.Thr305=) SNV Benign/Likely benign 138640 rs75695239 4:647931-647931 4:654142-654142 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.145G>T (p.Asp49Tyr) SNV Benign/Likely benign 138644 rs79826315 4:619560-619560 4:625771-625771 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.342G>A (p.Glu114=) SNV Benign/Likely benign 99788 rs17031981 4:155665820-155665820 4:154744668-154744668 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2733T>C (p.Asn911=) SNV Benign/Likely benign 137272 rs75634595 6:65612302-65612302 6:64902409-64902409 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.891C>T (p.Ser297=) SNV Benign/Likely benign 143082 rs142285818 3:129251570-129251570 3:129532727-129532727 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.*173C>T SNV Benign/Likely benign 335549 rs13472 2:27600239-27600239 2:27377372-27377372 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.844G>A (p.Ala282Thr) SNV Benign/Likely benign 330749 rs7588635 2:112722854-112722854 2:111965277-111965277 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.756A>G (p.Pro252=) SNV Benign/Likely benign 330745 rs3761702 2:112705143-112705143 2:111947566-111947566 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.102A>G (p.Leu34=) SNV Benign/Likely benign 330741 rs143215350 2:112686737-112686737 2:111929160-111929160 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.664G>A (p.Glu222Lys) SNV Benign/Likely benign 294668 rs114846212 1:197313422-197313422 1:197344292-197344292 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.2677-8C>T SNV Benign/Likely benign 294680 rs73071678 1:197398571-197398571 1:197429441-197429441 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.*37T>C SNV Benign/Likely benign 292860 rs41265023 1:156146825-156146825 1:156177034-156177034 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.*538T>C SNV Benign/Likely benign 292867 rs7695 1:156147326-156147326 1:156177535-156177535 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.2128+15A>C SNV Benign/Likely benign 294674 rs75691013 1:197391101-197391101 1:197421971-197421971 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.2715G>A (p.Arg905=) SNV Benign/Likely benign 294681 rs534108312 1:197398617-197398617 1:197429487-197429487 RTN008 Retinitis Pigmentosa ROM1 NM_000327.3(ROM1):c.342C>T (p.Leu114=) SNV Benign/Likely benign 285035 rs537377404 11:62381095-62381095 11:62613623-62613623 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3447G>A (p.Pro1149=) SNV Benign/Likely benign 283187 rs200278694 2:29293681-29293681 2:29070815-29070815 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.908C>G (p.Ser303Cys) SNV Benign/Likely benign 281323 rs61733363 5:149301223-149301223 5:149921660-149921660 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.2044C>T (p.Pro682Ser) SNV Benign/Likely benign 286515 rs76381440 1:156146546-156146546 1:156176755-156176755 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.2167C>T (p.Arg723Cys) SNV Benign/Likely benign 292857 rs199933282 1:156146669-156146669 1:156176878-156176878 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.2800A>G (p.Thr934Ala) SNV Benign/Likely benign 167714 rs149616320 2:96955677-96955677 2:96289939-96289939 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.3556C>T (p.Pro1186Ser) SNV Benign/Likely benign 166889 rs7190372 16:57918268-57918268 16:57884364-57884364 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.998+11C>T SNV Benign/Likely benign 167434 rs75319698 5:149294495-149294495 5:149914932-149914932 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.9030A>G (p.Ala3010=) SNV Benign/Likely benign 167046 rs61754905 6:64430897-64430897 6:63721001-63721001 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.300A>G (p.Leu100=) SNV Benign/Likely benign 166655 rs8075035 17:6331803-6331803 17:6428483-6428483 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.618G>A (p.Leu206=) SNV Benign/Likely benign 166752 rs62641693 11:61724452-61724452 11:61956980-61956980 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.1560A>G (p.Gln520=) SNV Benign/Likely benign 167741 rs61756347 9:32542963-32542963 9:32542965-32542965 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.360C>T (p.Gly120=) SNV Benign/Likely benign 193112 rs79765751 3:129247936-129247936 3:129529093-129529093 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.375+11C>T SNV Benign/Likely benign 167634 rs74356516 2:234229480-234229480 2:233320834-233320834 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.55T>G (p.Ser19Ala) SNV Benign/Likely benign 193330 rs189108830 4:16077475-16077475 4:16075852-16075852 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.1474G>A (p.Val492Ile) SNV Benign/Likely benign 193667 rs111326315 11:61730100-61730100 11:61962628-61962628 RTN008 Retinitis Pigmentosa FTH1 NM_004183.4(BEST1):c.1474G>A (p.Val492Ile) SNV Benign/Likely benign 193667 rs111326315 11:61730100-61730100 11:61962628-61962628 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.1159A>G (p.Met387Val) SNV Benign/Likely benign 193702 rs142729495 2:96963419-96963419 2:96297681-96297681 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.1405+9A>G SNV Benign/Likely benign 194186 rs11562030 7:128035176-128035176 7:128395122-128395122 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.1529G>A (p.Arg510Gln) SNV Benign/Likely benign 194261 rs2075164 1:156144971-156144971 1:156175180-156175180 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1985G>T (p.Arg662Met) SNV Benign/Likely benign 194031 rs144430026 6:66005794-66005794 6:65295901-65295901 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1204G>A (p.Asp402Asn) SNV Benign/Likely benign 194491 rs140907154 16:57974143-57974143 16:57940239-57940239 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1122-15C>T SNV Benign/Likely benign 194492 rs2303778 16:57974240-57974240 16:57940336-57940336 RTN008 Retinitis Pigmentosa ROM1 NM_000327.3(ROM1):c.812T>C (p.Met271Thr) SNV Benign/Likely benign 195063 rs137950927 11:62381951-62381951 11:62614479-62614479 RTN008 Retinitis Pigmentosa ROM1 NM_000327.3(ROM1):c.686G>A (p.Arg229His) SNV Benign/Likely benign 195064 rs150168119 11:62381825-62381825 11:62614353-62614353 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) SNV Benign/Likely benign 195107 rs187333111 2:29287863-29287863 2:29064997-29064997 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.74C>G (p.Ser25Trp) SNV Benign/Likely benign 195250 rs61758066 9:32550896-32550896 9:32550898-32550898 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.*28T>C SNV Benign/Likely benign 263259 rs41302107 1:197447037-197447037 1:197477907-197477907 RTN008 Retinitis Pigmentosa ARL6 NM_001278293.3(ARL6):c.480-8C>T SNV Benign/Likely benign 262017 rs77010939 3:97510607-97510607 3:97791763-97791763 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*33C>T SNV Benign/Likely benign 256381 rs113310993 3:129252594-129252594 3:129533751-129533751 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.2643C>G (p.His881Gln) SNV Benign/Likely benign 196426 rs41302222 9:32541880-32541880 9:32541882-32541882 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.616-6T>C SNV Benign/Likely benign 196435 rs186571865 8:55534671-55534671 8:54622111-54622111 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.844C>T (p.Arg282Trp) SNV Benign/Likely benign 196444 rs1805147 X:46719498-46719498 X:46860063-46860063 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.5664C>T (p.His1888=) SNV Benign/Likely benign 197419 rs139731897 2:96943635-96943635 2:96277897-96277897 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.5766C>T (p.Leu1922=) SNV Benign/Likely benign 197443 rs147427344 2:96943442-96943442 2:96277704-96277704 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.814A>G (p.Ile272Val) SNV Benign/Likely benign 196418 rs115436019 9:32543709-32543709 9:32543711-32543711 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.4467C>T (p.Leu1489=) SNV Benign/Likely benign 196132 rs113849788 17:1564328-1564328 17:1661034-1661034 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.3005A>G (p.Asn1002Ser) SNV Benign/Likely benign 195686 rs143529458 2:96955053-96955053 2:96289315-96289315 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.260C>T (p.Thr87Ile) SNV Benign/Likely benign 195270 rs147783915 X:46713068-46713068 X:46853633-46853633 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*3117A>G SNV Benign/Likely benign 893017 19:48346341-48346341 19:47843084-47843084 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.5377C>T (p.Pro1793Ser) SNV Benign/Likely benign 624326 rs143088423 8:55541819-55541819 8:54629259-54629259 RTN008 Retinitis Pigmentosa CA4 NM_000717.5(CA4):c.869C>T (p.Pro290Leu) SNV Benign/Likely benign 514425 rs146141867 17:58236715-58236715 17:60159354-60159354 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1171G>A (p.Val391Met) SNV Benign/Likely benign 440030 rs61732059 5:149279030-149279030 5:149899467-149899467 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.1302G>A (p.Ala434=) SNV Benign/Likely benign 467825 rs62636301 1:68897001-68897001 1:68431318-68431318 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.1730C>A (p.Ser577Tyr) SNV Benign/Likely benign 497288 rs79708790 9:32542793-32542793 9:32542795-32542795 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.1844T>A (p.Val615Asp) SNV Benign/Likely benign 498856 rs140776870 2:29295284-29295284 2:29072418-29072418 RTN008 Retinitis Pigmentosa NRL NM_001354768.3(NRL):c.399C>T (p.Ser133=) SNV Benign/Likely benign 713521 14:24550760-24550760 14:24081551-24081551 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.529T>C (p.Leu177=) SNV Benign/Likely benign 720750 15:89755129-89755129 15:89211898-89211898 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.90G>C (p.Arg30=) SNV Benign/Likely benign 708634 2:96970562-96970562 2:96304824-96304824 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.2027C>T (p.Ala676Val) SNV Benign/Likely benign 719457 1:156146529-156146529 1:156176738-156176738 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.906A>G (p.Gln302=) SNV Benign/Likely benign 717824 2:62067233-62067233 2:61840098-61840098 RTN008 Retinitis Pigmentosa PDE6G NM_002602.4(PDE6G):c.156C>T (p.Asp52=) SNV Benign/Likely benign 726543 17:79618706-79618706 17:81651676-81651676 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1503C>T (p.Ala501=) SNV Benign/Likely benign 725981 10:48389375-48389375 10:47349987-47349987 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.279G>T (p.Thr93=) SNV Benign/Likely benign 734306 8:55533805-55533805 8:54621245-54621245 RTN008 Retinitis Pigmentosa PRPF3 NM_004698.4(PRPF3):c.2004C>T (p.His668=) SNV Benign/Likely benign 740040 1:150325407-150325407 1:150352931-150352931 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.519C>T (p.Ala173=) SNV Benign/Likely benign 737420 3:129249876-129249876 3:129531033-129531033 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.2298T>C (p.Thr766=) SNV Benign/Likely benign 742121 17:1579889-1579889 17:1676595-1676595 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.1137C>T (p.Ala379=) SNV Benign/Likely benign 738137 20:62632543-62632543 20:64001190-64001190 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.864T>A (p.Gly288=) SNV Benign/Likely benign 754017 15:72105845-72105845 15:71813505-71813505 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.423-7C>T SNV Benign/Likely benign 775173 2:62067723-62067723 2:61840588-61840588 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.1074+7C>T SNV Benign/Likely benign 774134 7:128038461-128038461 7:128398407-128398407 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.1074+6G>T SNV Benign/Likely benign 774135 7:128038462-128038462 7:128398408-128398408 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.1935A>T (p.Thr645=) SNV Benign/Likely benign 762338 1:216462658-216462658 1:216289316-216289316 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.909C>T (p.Ser303=) SNV Benign/Likely benign 778888 6:42666165-42666165 6:42698427-42698427 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.3315A>G (p.Ala1105=) SNV Benign/Likely benign 774164 2:96953651-96953651 2:96287913-96287913 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1017T>C (p.His339=) SNV Benign/Likely benign 776077 5:149286923-149286923 5:149907360-149907360 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.1353A>G (p.Gln451=) SNV Benign/Likely benign 784993 2:112751884-112751884 2:111994307-111994307 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.1164C>T (p.Phe388=) SNV Benign/Likely benign 775707 2:27600874-27600874 2:27378007-27378007 RTN008 Retinitis Pigmentosa ZNF513 NM_144631.6(ZNF513):c.694C>T (p.Pro232Ser) SNV Benign/Likely benign 775708 2:27601439-27601439 2:27378572-27378572 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.366T>C (p.His122=) SNV Benign/Likely benign 780345 2:29296762-29296762 2:29073896-29073896 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.5538C>T (p.Ile1846=) SNV Benign/Likely benign 779226 2:96944047-96944047 2:96278309-96278309 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3522C>T (p.Asp1174=) SNV Benign/Likely benign 785849 2:29293606-29293606 2:29070740-29070740 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.333G>A (p.Ala111=) SNV Benign/Likely benign 787122 15:72104193-72104193 15:71811853-71811853 RTN008 Retinitis Pigmentosa CA4 NM_000717.5(CA4):c.375C>T (p.Gly125=) SNV Benign/Likely benign 783794 17:58234894-58234894 17:60157533-60157533 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.6452A>G (p.Asn2151Ser) SNV Benign/Likely benign 786887 6:64791868-64791868 6:64081975-64081975 RTN008 Retinitis Pigmentosa NR2E3 NM_014249.4(NR2E3):c.*567C>A SNV Benign/Likely benign 887402 15:72110592-72110592 15:71818251-71818251 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.*493T>C SNV Benign/Likely benign 886935 14:89344247-89344247 14:88877903-88877903 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.1434+12C>A SNV Benign/Likely benign 873571 1:156144743-156144743 1:156174952-156174952 RTN008 Retinitis Pigmentosa GUCA1A NM_002098.6(GUCA1B):c.*1126A>G SNV Benign/Likely benign 356703 rs115180990 6:42151427-42151427 6:42183689-42183689 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*1126A>G SNV Benign/Likely benign 356703 rs115180990 6:42151427-42151427 6:42183689-42183689 RTN008 Retinitis Pigmentosa GUCA1A NM_002098.6(GUCA1B):c.*457A>G SNV Benign/Likely benign 356723 rs9471797 6:42152096-42152096 6:42184358-42184358 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*457A>G SNV Benign/Likely benign 356723 rs9471797 6:42152096-42152096 6:42184358-42184358 RTN008 Retinitis Pigmentosa GUCA1A NM_002098.6(GUCA1B):c.*618G>A SNV Benign/Likely benign 356714 rs150308756 6:42151935-42151935 6:42184197-42184197 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*618G>A SNV Benign/Likely benign 356714 rs150308756 6:42151935-42151935 6:42184197-42184197 RTN008 Retinitis Pigmentosa GUCA1A NM_002098.6(GUCA1B):c.*488C>T SNV Benign/Likely benign 356719 rs7764586 6:42152065-42152065 6:42184327-42184327 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*488C>T SNV Benign/Likely benign 356719 rs7764586 6:42152065-42152065 6:42184327-42184327 RTN008 Retinitis Pigmentosa GUCA1A NM_002098.6(GUCA1B):c.*477C>T SNV Benign/Likely benign 356721 rs143063040 6:42152076-42152076 6:42184338-42184338 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*477C>T SNV Benign/Likely benign 356721 rs143063040 6:42152076-42152076 6:42184338-42184338 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*1534T>C SNV Benign/Likely benign 356746 rs115252154 6:42664499-42664499 6:42696761-42696761 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.2289G>A (p.Lys763=) SNV Benign/Likely benign 349390 rs61739716 4:660340-660340 4:666551-666551 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.*414C>T SNV Benign/Likely benign 349410 rs111404897 4:664310-664310 4:670521-670521 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.2505A>G (p.Val835=) SNV Benign/Likely benign 349397 rs61734864 4:663836-663836 4:670047-670047 RTN008 Retinitis Pigmentosa GUCA1A NM_002098.6(GUCA1B):c.*429G>A SNV Benign/Likely benign 356726 rs114573886 6:42152124-42152124 6:42184386-42184386 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*429G>A SNV Benign/Likely benign 356726 rs114573886 6:42152124-42152124 6:42184386-42184386 RTN008 Retinitis Pigmentosa GUCA1A NM_002098.6(GUCA1B):c.*220A>G SNV Benign/Likely benign 356729 rs3749920 6:42152333-42152333 6:42184595-42184595 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*220A>G SNV Benign/Likely benign 356729 rs3749920 6:42152333-42152333 6:42184595-42184595 RTN008 Retinitis Pigmentosa GUCA1A NM_002098.6(GUCA1B):c.*1318G>A SNV Benign/Likely benign 356700 rs1997980 6:42151235-42151235 6:42183497-42183497 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*1318G>A SNV Benign/Likely benign 356700 rs1997980 6:42151235-42151235 6:42183497-42183497 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.*21C>T SNV Benign/Likely benign 349402 rs371005251 4:663917-663917 4:670128-670128 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*989G>A SNV Benign/Likely benign 356757 rs142990052 6:42665044-42665044 6:42697306-42697306 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.2046G>A (p.Ala682=) SNV Benign/Likely benign 348834 rs73145999 4:47938465-47938465 4:47936448-47936448 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.123G>A (p.Pro41=) SNV Benign/Likely benign 349287 rs113459274 4:619538-619538 4:625749-625749 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*1867C>T SNV Benign/Likely benign 347867 rs78441257 4:155672155-155672155 4:154751003-154751003 RTN008 Retinitis Pigmentosa ARL6 NM_001278293.3(ARL6):c.*255C>T SNV Benign/Likely benign 346945 rs79196822 3:97517148-97517148 3:97798304-97798304 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*817A>G SNV Benign/Likely benign 347861 rs78274322 4:155671105-155671105 4:154749953-154749953 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*2670G>T SNV Benign/Likely benign 347879 rs17032000 4:155672958-155672958 4:154751806-154751806 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.84C>T (p.Tyr28=) SNV Benign/Likely benign 352008 rs34230349 5:149324153-149324153 5:149944590-149944590 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.*3618G>A SNV Benign/Likely benign 347885 rs17032002 4:155673906-155673906 4:154752754-154752754 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.2331C>T (p.Phe777=) SNV Benign/Likely benign 349393 rs35792756 4:660382-660382 4:666593-666593 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.*20C>A SNV Benign/Likely benign 349401 rs61760239 4:663916-663916 4:670127-670127 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.631-14T>C SNV Benign/Likely benign 348005 rs16892824 4:16025995-16025995 4:16024372-16024372 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.482G>A (p.Arg161Gln) SNV Benign/Likely benign 313838 rs17852293 14:68193731-68193731 14:67727014-67727014 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.213C>T (p.Ser71=) SNV Benign/Likely benign 305119 rs57132800 11:61722639-61722639 11:61955167-61955167 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.2314C>T (p.Leu772=) SNV Benign/Likely benign 366566 rs371017482 9:32542209-32542209 9:32542211-32542211 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.2467A>G (p.Ser823Gly) SNV Benign/Likely benign 366563 rs377384599 9:32542056-32542056 9:32542058-32542058 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.156-11C>T SNV Benign/Likely benign 364001 rs74652296 8:96276013-96276013 8:95263785-95263785 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*1949C>G SNV Benign/Likely benign 363987 rs117011452 8:96257896-96257896 8:95245668-95245668 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*2419T>A SNV Benign/Likely benign 363982 rs74748655 8:96257426-96257426 8:95245198-95245198 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.55C>G (p.Pro19Ala) SNV Benign/Likely benign 364002 rs36096184 8:96281363-96281363 8:95269135-95269135 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.6064A>C (p.Lys2022Gln) SNV Benign/Likely benign 363311 rs184596875 8:55542506-55542506 8:54629946-54629946 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2739G>A (p.Arg913=) SNV Benign/Likely benign 357724 rs77020971 6:65612113-65612113 6:64902220-64902220 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2157C>T (p.Cys719=) SNV Benign/Likely benign 357731 rs9453148 6:65707577-65707577 6:64997684-64997684 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*1524G>C SNV Benign/Likely benign 356747 rs183409467 6:42664509-42664509 6:42696771-42696771 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*1230C>T SNV Benign/Likely benign 356753 rs79663042 6:42664803-42664803 6:42697065-42697065 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*1121A>C SNV Benign/Likely benign 356754 rs187919973 6:42664912-42664912 6:42697174-42697174 RTN008 Retinitis Pigmentosa GUCA1A NM_002098.6(GUCA1B):c.*480G>A SNV Benign/Likely benign 356720 rs113734032 6:42152073-42152073 6:42184335-42184335 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*480G>A SNV Benign/Likely benign 356720 rs113734032 6:42152073-42152073 6:42184335-42184335 RTN008 Retinitis Pigmentosa GUCA1A NM_002098.6(GUCA1B):c.*295G>A SNV Benign/Likely benign 356727 rs73733110 6:42152258-42152258 6:42184520-42184520 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*295G>A SNV Benign/Likely benign 356727 rs73733110 6:42152258-42152258 6:42184520-42184520 RTN008 Retinitis Pigmentosa GUCA1A NM_002098.6(GUCA1B):c.*433A>G SNV Benign/Likely benign 356725 rs140024841 6:42152120-42152120 6:42184382-42184382 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*433A>G SNV Benign/Likely benign 356725 rs140024841 6:42152120-42152120 6:42184382-42184382 RTN008 Retinitis Pigmentosa GUCA1A NM_002098.6(GUCA1B):c.*666G>T SNV Benign/Likely benign 356713 rs140229339 6:42151887-42151887 6:42184149-42184149 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*666G>T SNV Benign/Likely benign 356713 rs140229339 6:42151887-42151887 6:42184149-42184149 RTN008 Retinitis Pigmentosa GUCA1A NM_002098.6(GUCA1B):c.*1203T>C SNV Benign/Likely benign 356702 rs75437254 6:42151350-42151350 6:42183612-42183612 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*1203T>C SNV Benign/Likely benign 356702 rs75437254 6:42151350-42151350 6:42183612-42183612 RTN008 Retinitis Pigmentosa GUCA1A NM_002098.6(GUCA1B):c.*928A>G SNV Benign/Likely benign 356708 rs114824449 6:42151625-42151625 6:42183887-42183887 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*928A>G SNV Benign/Likely benign 356708 rs114824449 6:42151625-42151625 6:42183887-42183887 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*1313G>A SNV Benign/Likely benign 356751 rs115451690 6:42664720-42664720 6:42696982-42696982 RTN008 Retinitis Pigmentosa GUCA1A NM_002098.6(GUCA1B):c.*1088G>C SNV Benign/Likely benign 356704 rs76451756 6:42151465-42151465 6:42183727-42183727 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*1088G>C SNV Benign/Likely benign 356704 rs76451756 6:42151465-42151465 6:42183727-42183727 RTN008 Retinitis Pigmentosa GUCA1A NM_002098.6(GUCA1B):c.*581G>A SNV Benign/Likely benign 356715 rs138314395 6:42151972-42151972 6:42184234-42184234 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*581G>A SNV Benign/Likely benign 356715 rs138314395 6:42151972-42151972 6:42184234-42184234 RTN008 Retinitis Pigmentosa GUCA1A NM_002098.6(GUCA1B):c.*503G>A SNV Benign/Likely benign 356717 rs13211352 6:42152050-42152050 6:42184312-42184312 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*503G>A SNV Benign/Likely benign 356717 rs13211352 6:42152050-42152050 6:42184312-42184312 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.*228G>A SNV Benign/Likely benign 358867 rs72624976 7:128032833-128032833 7:128392779-128392779 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.777G>A (p.Gln259=) SNV Benign/Likely benign 357745 rs78079047 6:66200572-66200572 6:65490679-65490679 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.-152A>G SNV Benign/Likely benign 313835 rs76635633 14:68189208-68189208 14:67722491-67722491 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.*1009A>G SNV Benign/Likely benign 324587 rs4577135 17:6327771-6327771 17:6424451-6424451 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.*1391C>T SNV Benign/Likely benign 324577 rs907939 17:6327389-6327389 17:6424069-6424069 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.*1229C>T SNV Benign/Likely benign 324581 rs907938 17:6327551-6327551 17:6424231-6424231 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.*606G>A SNV Benign/Likely benign 324594 rs10852881 17:6328174-6328174 17:6424854-6424854 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.6227+8C>T SNV Benign/Likely benign 321877 rs369076508 17:1557063-1557063 17:1653769-1653769 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.-275+12C>T SNV Benign/Likely benign 313832 rs73276636 14:68168664-68168664 14:67701947-67701947 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*19C>T SNV Benign/Likely benign 329701 rs79186398 19:48343243-48343243 19:47839986-47839986 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.-39G>C SNV Benign/Likely benign 329692 rs531267959 19:48325264-48325264 19:47822007-47822007 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*1961G>A SNV Benign/Likely benign 329750 rs117186518 19:48345185-48345185 19:47841928-47841928 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*1063C>T SNV Benign/Likely benign 329734 rs143939023 19:48344287-48344287 19:47841030-47841030 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*860C>T SNV Benign/Likely benign 329727 rs185098538 19:48344084-48344084 19:47840827-47840827 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.*380C>T SNV Benign/Likely benign 317224 rs115275013 15:89753136-89753136 15:89209905-89209905 RTN008 Retinitis Pigmentosa CA4 NM_000717.5(CA4):c.204A>G (p.Gly68=) SNV Benign/Likely benign 324226 rs35468643 17:58234012-58234012 17:60156651-60156651 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.*1202C>T SNV Benign/Likely benign 324582 rs907937 17:6327578-6327578 17:6424258-6424258 RTN008 Retinitis Pigmentosa BEST1 NM_002032.3(FTH1):c.*319G>A SNV Benign/Likely benign 305137 rs75281081 11:61731880-61731880 11:61964408-61964408 RTN008 Retinitis Pigmentosa FTH1 NM_002032.3(FTH1):c.*319G>A SNV Benign/Likely benign 305137 rs75281081 11:61731880-61731880 11:61964408-61964408 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.-70G>A SNV Benign/Likely benign 317245 rs3743384 15:89762276-89762276 15:89219045-89219045 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.2247C>T (p.Asp749=) SNV Benign/Likely benign 299968 rs34691259 10:48388631-48388631 10:47350731-47350731 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.78C>T (p.Ser26=) SNV Benign/Likely benign 299997 rs115562835 10:48390800-48390800 10:47348562-47348562 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.2328C>T (p.Asn776=) SNV Benign/Likely benign 339481 rs61736634 20:62659078-62659078 20:64027725-64027725 RTN008 Retinitis Pigmentosa PITPNM3 NM_031220.4(PITPNM3):c.541G>A (p.Val181Ile) SNV Benign/Likely benign 324761 rs61755430 17:6386883-6386883 17:6483563-6483563 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.*1018G>A SNV Benign/Likely benign 324585 rs2871287 17:6327762-6327762 17:6424442-6424442 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.*753G>A SNV Benign/Likely benign 324591 rs62060993 17:6328027-6328027 17:6424707-6424707 RTN008 Retinitis Pigmentosa CA4 NM_000717.5(CA4):c.531C>A (p.Asn177Lys) SNV Benign/Likely benign 324233 rs185942554 17:58235439-58235439 17:60158078-60158078 RTN008 Retinitis Pigmentosa AIPL1 NM_014336.5(AIPL1):c.*1658T>C SNV Benign/Likely benign 324568 rs78526307 17:6327122-6327122 17:6423802-6423802 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.6834G>A (p.Ser2278=) SNV Benign/Likely benign 321871 rs147050234 17:1554421-1554421 17:1651127-1651127 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.1047G>A (p.Val349=) SNV Benign/Likely benign 338015 rs75848934 20:2640195-2640195 20:2659549-2659549 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*1220G>A SNV Benign/Likely benign 329738 rs58323327 19:48344444-48344444 19:47841187-47841187 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*1671G>A SNV Benign/Likely benign 329745 rs550538685 19:48344895-48344895 19:47841638-47841638 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.551C>T (p.Pro184Leu) SNV Benign/Likely benign 329697 rs147558800 19:48342875-48342875 19:47839618-47839618 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.*242A>C SNV Benign/Likely benign 317229 rs8025719 15:89753274-89753274 15:89210043-89210043 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2602C>T SNV Benign/Likely benign 329767 rs562310108 19:48345826-48345826 19:47842569-47842569 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*972C>G SNV Benign/Likely benign 329731 rs12462416 19:48344196-48344196 19:47840939-47840939 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*527C>T SNV Benign/Likely benign 329712 rs371749408 19:48343751-48343751 19:47840494-47840494 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2017C>T SNV Benign/Likely benign 329751 rs73038753 19:48345241-48345241 19:47841984-47841984 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.2743G>A (p.Val915Met) SNV Benign/Likely benign 339488 rs139778757 20:62664263-62664263 20:64032910-64032910 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2299C>T SNV Benign/Likely benign 329759 rs73038757 19:48345523-48345523 19:47842266-47842266 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2375G>A SNV Benign/Likely benign 329760 rs188212480 19:48345599-48345599 19:47842342-47842342 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2396C>T SNV Benign/Likely benign 329762 rs374128749 19:48345620-48345620 19:47842363-47842363 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2758C>A SNV Benign/Likely benign 329771 rs117717088 19:48345982-48345982 19:47842725-47842725 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.1207G>A (p.Val403Ile) SNV Benign 194606 rs1046974 2:234255547-234255547 2:233346901-233346901 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.3654C>T (p.Ser1218=) SNV Benign 196134 rs3214060 2:96952601-96952601 2:96286863-96286863 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.459C>T (p.Tyr153=) SNV Benign 197174 rs1042454 10:86012713-86012713 10:84252957-84252957 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.101-3C>T SNV Benign 196436 rs75670228 17:1586998-1586998 17:1683704-1683704 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.732C>T (p.Leu244=) SNV Benign 198557 rs199688602 2:96964703-96964703 2:96298965-96298965 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.1037G>A (p.Arg346His) SNV Benign 208300 rs111245635 10:48389841-48389841 10:47349521-47349521 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.487T>C (p.Ser163Pro) SNV Benign 208295 rs35686775 10:48390391-48390391 10:47348971-47348971 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*43C>A SNV Benign 256382 rs2071093 3:129252604-129252604 3:129533761-129533761 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1958-14A>C SNV Benign 257960 rs3991715 16:57951394-57951394 16:57917490-57917490 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.*12A>G SNV Benign 349400 rs28675771 4:663908-663908 4:670119-670119 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.1983+14G>A SNV Benign 259905 rs4698436 4:15992831-15992831 4:15991208-15991208 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.786G>A (p.Ala262=) SNV Benign 259907 rs2286455 4:16020162-16020162 4:16018539-16018539 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.303+6G>A SNV Benign 259906 rs2078622 4:16037352-16037352 4:16035729-16035729 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.129C>T (p.Thr43=) SNV Benign 259902 rs10033086 4:16077401-16077401 4:16075778-16075778 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.15C>T (p.Leu5=) SNV Benign 259904 rs10033189 4:16077515-16077515 4:16075892-16075892 RTN008 Retinitis Pigmentosa TTC8 NM_198309.3(TTC8):c.1402-12T>C SNV Benign 262514 rs79747892 14:89343626-89343626 14:88877282-88877282 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.1133+13T>C SNV Benign 257149 rs12997453 2:182413259-182413259 2:181548532-181548532 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.895+3A>G SNV Benign 257151 rs12623687 2:182414358-182414358 2:181549631-181549631 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.242A>C (p.Asp81Ala) SNV Benign 257150 rs61750041 2:182468803-182468803 2:181604076-181604076 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.-26A>G SNV Benign 256383 rs7984 3:129247551-129247551 3:129528708-129528708 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.696+4C>T SNV Benign 256384 rs56340615 3:129251263-129251263 3:129532420-129532420 RTN008 Retinitis Pigmentosa SEMA4A NM_022367.4(SEMA4A):c.1716C>T (p.Pro572=) SNV Benign 261576 rs12401573 1:156146218-156146218 1:156176427-156176427 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.2077G>A (p.Val693Met) SNV Benign 208314 rs112888313 10:48388801-48388801 10:47350561-47350561 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.58C>T (p.Pro20Ser) SNV Benign 195251 rs112527210 9:32550912-32550912 9:32550914-32550914 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2112T>C (p.Asn704=) SNV Benign 193145 rs10200693 2:29295016-29295016 2:29072150-29072150 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.1410G>A (p.Thr470=) SNV Benign 193666 rs149698 11:61730036-61730036 11:61962564-61962564 RTN008 Retinitis Pigmentosa FTH1 NM_004183.4(BEST1):c.1410G>A (p.Thr470=) SNV Benign 193666 rs149698 11:61730036-61730036 11:61962564-61962564 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3668+14T>C SNV Benign 193133 rs72861052 2:29293446-29293446 2:29070580-29070580 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2875G>A (p.Ala959Thr) SNV Benign 193141 rs192350796 2:29294253-29294253 2:29071387-29071387 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.1882G>A (p.Ala628Thr) SNV Benign 193147 rs571059484 2:29295246-29295246 2:29072380-29072380 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.2650G>A (p.Val884Met) SNV Benign 193238 rs11204213 10:48388228-48388228 10:47351134-47351134 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.837G>A (p.Thr279=) SNV Benign 193239 rs2376635 10:48390041-48390041 10:47349321-47349321 RTN008 Retinitis Pigmentosa RP9 NM_203288.2(RP9):c.459G>A (p.Lys153=) SNV Benign 167611 rs145025032 7:33136113-33136113 7:33096501-33096501 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3789G>A (p.Leu1263=) SNV Benign 166758 rs199689791 2:29287813-29287813 2:29064947-29064947 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.1506C>T (p.Asp502=) SNV Benign 166844 rs10180793 2:182403851-182403851 2:181539124-181539124 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.239-12T>A SNV Benign 166848 rs6433923 2:182468818-182468818 2:181604091-181604091 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.156C>T (p.Phe52=) SNV Benign 166849 rs1473295 2:182521578-182521578 2:181656851-181656851 RTN008 Retinitis Pigmentosa RP9 NM_203288.2(RP9):c.629A>G (p.Lys210Arg) SNV Benign 167609 rs150987618 7:33134883-33134883 7:33095271-33095271 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.2245A>G (p.Asn749Asp) SNV Benign 167739 rs17857515 9:32542278-32542278 9:32542280-32542280 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.1440A>G (p.Lys480=) SNV Benign 167216 rs118185564 7:23212627-23212627 7:23173008-23173008 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.2916G>A (p.Ser972=) SNV Benign 167290 rs10205793 2:112786357-112786357 2:112028780-112028780 RTN008 Retinitis Pigmentosa NRL NM_006177.5(NRL):c.711C>G (p.Leu237=) SNV Benign 167386 rs8009051 14:24550448-24550448 14:24081239-24081239 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2664C>G (p.Ala888=) SNV Benign 166894 rs413562 16:57937856-57937856 16:57903952-57903952 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2635-10C>T SNV Benign 166895 rs437920 16:57937895-57937895 16:57903991-57903991 RTN008 Retinitis Pigmentosa PDE6B NM_001350155.2(PDE6B):c.-83G>A SNV Benign 167436 rs10902758 4:648643-648643 4:654854-654854 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.1147-9= SNV Benign 167537 rs655240 19:54632423-54632423 19:54129048-54129048 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*13C>T SNV Benign 167542 rs361524 6:42666020-42666020 6:42698282-42698282 RTN008 Retinitis Pigmentosa RP9 NM_203288.2(RP9):c.463G>A (p.Val155Ile) SNV Benign 167610 rs58377403 7:33136109-33136109 7:33096497-33096497 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2615G>A (p.Arg872His) SNV Benign 167602 rs444772 8:55539057-55539057 8:54626497-54626497 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2732A>G (p.Lys911Arg) SNV Benign 166892 rs2303785 16:57937788-57937788 16:57903884-57903884 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.352G>A (p.Asp118Asn) SNV Benign 166888 rs28642966 4:47945295-47945295 4:47943278-47943278 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.2633G>A (p.Arg878His) SNV Benign 166515 rs200124505 1:216420103-216420103 1:216246761-216246761 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) SNV Benign 166434 rs199605265 1:215848678-215848678 1:215675336-215675336 RTN008 Retinitis Pigmentosa PRPF3 NM_004698.4(PRPF3):c.1923G>A (p.Arg641=) SNV Benign 292506 rs79516325 1:150325326-150325326 1:150352850-150352850 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2374C>G (p.Leu792Val) SNV Benign 287769 rs17744093 2:29294754-29294754 2:29071888-29071888 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2499G>A (p.Pro833=) SNV Benign 287770 rs34253433 2:29294629-29294629 2:29071763-29071763 RTN008 Retinitis Pigmentosa PRPF3 NM_004698.4(PRPF3):c.378C>T (p.Ile126=) SNV Benign 292496 rs59082627 1:150300880-150300880 1:150328421-150328421 RTN008 Retinitis Pigmentosa PRPF3 NM_004698.4(PRPF3):c.*154G>A SNV Benign 292510 rs368160043 1:150325609-150325609 1:150353133-150353133 RTN008 Retinitis Pigmentosa PRPF3 NM_004698.4(PRPF3):c.1760-12C>T SNV Benign 292503 rs116427288 1:150318872-150318872 1:150346396-150346396 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.2889C>T (p.Ser963=) SNV Benign 286246 rs144569618 2:29294239-29294239 2:29071373-29071373 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.200C>G (p.Thr67Arg) SNV Benign 286865 rs7764472 6:35479574-35479574 6:35511797-35511797 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.220G>A (p.Val74Met) SNV Benign 286866 rs3179969 14:88862529-88862529 14:88396185-88396185 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1644T>C (p.Asp548=) SNV Benign 287440 rs2161703 16:57954448-57954448 16:57920544-57920544 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.384C>T (p.Ser128=) SNV Benign 281810 rs28510278 4:619799-619799 4:626010-626010 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.373C>G (p.Pro125Ala) SNV Benign 281812 rs28414606 4:619788-619788 4:625999-625999 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.19C>T (p.Leu7=) SNV Benign 285753 rs11200938 10:86004865-86004865 10:84245109-84245109 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.27T>C (p.Thr9=) SNV Benign 285754 rs2279227 10:86004873-86004873 10:84245117-84245117 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.2160C>T (p.Tyr720=) SNV Benign 284409 rs74328058 9:32542363-32542363 9:32542365-32542365 RTN008 Retinitis Pigmentosa PRPF3 NM_004698.4(PRPF3):c.*228A>G SNV Benign 292512 rs41300863 1:150325683-150325683 1:150353207-150353207 RTN008 Retinitis Pigmentosa PRPF3 NM_004698.4(PRPF3):c.*42C>T SNV Benign 292507 rs77626125 1:150325497-150325497 1:150353021-150353021 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.*131T>G SNV Benign 295421 rs55761862 1:216348449-216348449 1:216175107-216175107 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.*1024T>C SNV Benign 295407 rs439940 1:216347556-216347556 1:216174214-216174214 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.757G>A (p.Val253Met) SNV Benign 297075 rs3816539 1:26786627-26786627 1:26460136-26460136 RTN008 Retinitis Pigmentosa DHDDS NM_024887.3(DHDDS):c.-150G>A SNV Benign 297068 rs6656196 1:26758773-26758773 1:26432282-26432282 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.*685C>A SNV Benign 295412 rs59704861 1:216347895-216347895 1:216174553-216174553 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*1300G>C SNV Benign 297098 rs12096239 1:26796922-26796922 1:26470431-26470431 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*2032C>T SNV Benign 297106 rs1055323 1:26797654-26797654 1:26471163-26471163 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*420G>A SNV Benign 332996 rs12614187 2:182402491-182402491 2:181537764-181537764 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.2080-11C>A SNV Benign 330766 rs3811640 2:112776979-112776979 2:112019402-112019402 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.*611G>A SNV Benign 298013 rs2182315 1:68894848-68894848 1:68429165-68429165 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*1345G>A SNV Benign 332979 rs2368214 2:182401566-182401566 2:181536839-181536839 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*954C>A SNV Benign 332985 rs11553356 2:182401957-182401957 2:181537230-181537230 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.1494C>T (p.Asn498=) SNV Benign 330758 rs3811634 2:112754943-112754943 2:111997366-111997366 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.1552A>G (p.Ile518Val) SNV Benign 330759 rs2230515 2:112755001-112755001 2:111997424-111997424 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.*531A>G SNV Benign 298015 rs3118418 1:68894928-68894928 1:68429245-68429245 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.1881A>G (p.Ser627=) SNV Benign 330762 rs1131244 2:112765973-112765973 2:112008396-112008396 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.1397G>A (p.Arg466Lys) SNV Benign 330754 rs7604639 2:112751928-112751928 2:111994351-111994351 RTN008 Retinitis Pigmentosa DHDDS NM_205861.3(DHDDS):c.*1886C>T SNV Benign 297104 rs2290588 1:26797508-26797508 1:26471017-26471017 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.*915C>G SNV Benign 298010 rs3118416 1:68894544-68894544 1:68428861-68428861 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.*1128G>T SNV Benign 295405 rs401269 1:216347452-216347452 1:216174110-216174110 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.226A>G (p.Ile76Val) SNV Benign 335067 rs7565275 2:234229320-234229320 2:233320674-233320674 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.*7C>T SNV Benign 335075 rs692 2:234255565-234255565 2:233346919-233346919 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*2160G>A SNV Benign 335590 rs1562392 2:29285575-29285575 2:29062709-29062709 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*2104T>C SNV Benign 335591 rs1562391 2:29285631-29285631 2:29062765-29062765 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1912T>A SNV Benign 335593 rs72861027 2:29285823-29285823 2:29062957-29062957 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.583+10C>T SNV Benign 330743 rs11683694 2:112702647-112702647 2:111945070-111945070 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.757+13T>C SNV Benign 330746 rs3761701 2:112705157-112705157 2:111947580-111947580 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*121C>T SNV Benign 333001 rs6747500 2:182402790-182402790 2:181538063-181538063 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1542A>G SNV Benign 335601 rs719691 2:29286193-29286193 2:29063327-29063327 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*506T>C SNV Benign 335628 rs10194257 2:29287229-29287229 2:29064363-29064363 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*27G>A SNV Benign 335635 rs10182566 2:29287708-29287708 2:29064842-29064842 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.1739C>T (p.Thr580Met) SNV Benign 335655 rs10166913 2:29295389-29295389 2:29072523-29072523 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*880G>A SNV Benign 332987 rs1037623 2:182402031-182402031 2:181537304-181537304 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.1208T>C (p.Val403Ala) SNV Benign 335074 rs1046976 2:234255548-234255548 2:233346902-233346902 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.258G>A (p.Arg86=) SNV Benign 335672 rs62132765 2:29296870-29296870 2:29074004-29074004 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.37A>T (p.Ser13Cys) SNV Benign 335675 rs10084168 2:29297091-29297091 2:29074225-29074225 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*1159C>T SNV Benign 332981 rs1047307 2:182401752-182401752 2:181537025-181537025 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.465C>T (p.Asn155=) SNV Benign 138632 rs2277926 5:149323772-149323772 5:149944209-149944209 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu) SNV Benign 138904 rs390659 6:42666164-42666164 6:42698426-42698426 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys) SNV Benign 138905 rs425876 6:42666145-42666145 6:42698407-42698407 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly) SNV Benign 138906 rs434102 6:42666061-42666061 6:42698323-42698323 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.-11A>C SNV Benign 138908 rs114062933 6:42690083-42690083 6:42722345-42722345 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.359C>T (p.Thr120Met) SNV Benign 137261 rs12193967 6:66204945-66204945 6:65495052-65495052 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1146T>C (p.Asn382=) SNV Benign 137262 rs974110 6:66112409-66112409 6:65402516-65402516 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1300-3C>T SNV Benign 137263 rs1936439 6:66063513-66063513 6:65353620-65353620 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.5044G>T (p.Asp1682Tyr) SNV Benign 137253 rs75831552 6:65300716-65300716 6:64590823-64590823 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.5705A>T (p.Asn1902Ile) SNV Benign 137256 rs9353806 6:65149185-65149185 6:64439292-64439292 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.7666A>T (p.Ser2556Cys) SNV Benign 137259 rs66462731 6:64498055-64498055 6:63788162-63788162 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1891G>A (p.Gly631Ser) SNV Benign 137267 rs9342464 6:66005888-66005888 6:65295995-65295995 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.1922A>T (p.Glu641Val) SNV Benign 137268 rs17411795 6:66005857-66005857 6:65295964-65295964 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2024-14C>T SNV Benign 137269 rs45628235 6:65767634-65767634 6:65057741-65057741 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2259+10C>T SNV Benign 137270 rs78511049 6:65707465-65707465 6:64997572-64997572 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.1791C>T (p.Phe597=) SNV Benign 138634 rs61733360 5:149265875-149265875 5:149886312-149886312 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.2337T>C (p.Phe779=) SNV Benign 138635 rs17110644 5:149245754-149245754 5:149866191-149866191 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.2400C>T (p.Asp800=) SNV Benign 138636 rs4705390 5:149242788-149242788 5:149863225-149863225 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.331A>C (p.Arg111=) SNV Benign 138637 rs2277925 5:149323906-149323906 5:149944343-149944343 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.201G>C (p.Leu67=) SNV Benign 99691 rs1801393 11:61722627-61722627 11:61955155-61955155 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.219C>A (p.Ile73=) SNV Benign 99693 rs1109748 11:61722645-61722645 11:61955173-61955173 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.696C>A (p.Ile232=) SNV Benign 99743 rs1805140 11:61724918-61724918 11:61957446-61957446 RTN008 Retinitis Pigmentosa CA4 NM_000717.5(CA4):c.700G>A (p.Val234Ile) SNV Benign 100558 rs117704637 17:58235763-58235763 17:60158402-60158402 RTN008 Retinitis Pigmentosa CA4 NM_000717.5(CA4):c.716G>A (p.Arg239Gln) SNV Benign 100559 rs76995634 17:58235779-58235779 17:60158418-60158418 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2255C>T (p.Thr752Met) SNV Benign 100579 rs28399531 8:55538697-55538697 8:54626137-54626137 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.2608G>A (p.Val870Ile) SNV Benign 100581 rs2230517 2:112786049-112786049 2:112028472-112028472 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.3787A>G (p.Ile1263Val) SNV Benign 137241 rs17404123 6:65303100-65303100 6:64593207-64593207 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.722C>T (p.Ser241Phe) SNV Benign 100573 rs61730895 10:86017740-86017740 10:84257984-84257984 RTN008 Retinitis Pigmentosa LRAT NM_004744.5(LRAT):c.74T>A (p.Phe25Tyr) SNV Benign 100574 rs75368761 4:155665552-155665552 4:154744400-154744400 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1473G>A (p.Pro491=) SNV Benign 100566 rs9925973 16:57965682-57965682 16:57931778-57931778 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1604T>C (p.Val535Ala) SNV Benign 100567 rs12927214 16:57957216-57957216 16:57923312-57923312 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln) SNV Benign 93620 rs4710457 6:64694354-64694354 6:63984461-63984461 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2218-12C>T SNV Benign 93697 rs483053 16:57949251-57949251 16:57915347-57915347 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2233C>A (p.Leu745Ile) SNV Benign 93698 rs10459809 16:57949224-57949224 16:57915320-57915320 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2664C>A (p.Ala888=) SNV Benign 93700 rs413562 16:57937856-57937856 16:57903952-57903952 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.2281-6C>G SNV Benign 95330 rs3815344 4:15985984-15985984 4:15984361-15984361 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.228G>A (p.Leu76=) SNV Benign 95331 rs76963591 4:16040617-16040617 4:16038994-16038994 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.2374-6T>C SNV Benign 95334 rs6449209 4:15982166-15982166 4:15980543-15980543 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr) SNV Benign 95352 rs446227 8:55541450-55541450 8:54628890-54628890 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.5071T>C (p.Ser1691Pro) SNV Benign 95354 rs414352 8:55541513-55541513 8:54628953-54628953 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.5175A>G (p.Gln1725=) SNV Benign 95355 rs441800 8:55541617-55541617 8:54629057-54629057 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.783G>C (p.Lys261Asn) SNV Benign 94127 rs2064318 6:35477025-35477025 6:35509248-35509248 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro) SNV Benign 93605 rs9294631 6:65622463-65622463 6:64912570-64912570 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.3906C>T (p.His1302=) SNV Benign 93606 rs12663916 6:65301854-65301854 6:64591961-64591961 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.3936A>G (p.Thr1312=) SNV Benign 93607 rs12662610 6:65301824-65301824 6:64591931-64591931 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.3973C>G (p.Gln1325Glu) SNV Benign 93608 rs12663622 6:65301787-65301787 6:64591894-64591894 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.4026C>T (p.Ser1342=) SNV Benign 93609 rs12663619 6:65301734-65301734 6:64591841-64591841 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.4081A>G (p.Ile1361Val) SNV Benign 93610 rs17403955 6:65301679-65301679 6:64591786-64591786 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser) SNV Benign 93611 rs624851 6:65301504-65301504 6:64591611-64591611 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.4352T>C (p.Ile1451Thr) SNV Benign 93612 rs62415828 6:65301408-65301408 6:64591515-64591515 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.4543C>T (p.Arg1515Trp) SNV Benign 93613 rs62415827 6:65301217-65301217 6:64591324-64591324 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.4549A>G (p.Ser1517Gly) SNV Benign 93614 rs62415826 6:65301211-65301211 6:64591318-64591318 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.4593G>A (p.Glu1531=) SNV Benign 93615 rs62415825 6:65301167-65301167 6:64591274-64591274 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.5244A>C (p.Leu1748Phe) SNV Benign 93616 rs57312007 6:65300516-65300516 6:64590623-64590623 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.5617C>G (p.Leu1873Val) SNV Benign 93618 rs16895517 6:65300143-65300143 6:64590250-64590250 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.318T>C (p.Val106=) SNV Benign 92846 rs7764439 6:42689755-42689755 6:42722017-42722017 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.573A>G (p.Val191=) SNV Benign 48540 rs73102592 1:216591934-216591934 1:216418592-216418592 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) SNV Benign 48555 rs114402911 1:216219858-216219858 1:216046516-216046516 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) SNV Benign 48581 rs41315579 1:216074214-216074214 1:215900872-215900872 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.848+5G>C SNV Benign 48602 rs74329863 1:216500928-216500928 1:216327586-216327586 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.504A>G (p.Thr168=) SNV Benign 48528 rs4253963 1:216592003-216592003 1:216418661-216418661 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.373G>A (p.Ala125Thr) SNV Benign 48507 rs10779261 1:216595306-216595306 1:216421964-216421964 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.3812-8T>G SNV Benign 48508 rs646094 1:216371934-216371934 1:216198592-216198592 RTN008 Retinitis Pigmentosa USH2A NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) SNV Benign 48509 rs111033524 1:216371836-216371836 1:216198494-216198494 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.3945T>C (p.Asn1315=) SNV Benign 48510 rs41303257 1:216371793-216371793 1:216198451-216198451 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.4371G>A (p.Ser1457=) SNV Benign 48515 rs56013136 1:216363590-216363590 1:216190248-216190248 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.1212T>C (p.Cys404=) SNV Benign 96217 rs4672457 2:62066927-62066927 2:61839792-61839792 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.71-12A>T SNV Benign 96660 rs12042179 1:197297540-197297540 1:197328410-197328410 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.1056G>A (p.Glu352=) SNV Benign 98820 rs12145904 1:68903942-68903942 1:68438259-68438259 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.353G>A (p.Ser118Asn) SNV Benign 95371 rs13027171 2:112686988-112686988 2:111929411-111929411 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.2319T>C (p.Ser773=) SNV Benign 95313 rs10971019 9:32542204-32542204 9:32542206-32542206 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.2991T>C (p.Asp997=) SNV Benign 95315 rs12348918 9:32541532-32541532 9:32541534-32541534 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.2021C>T (p.Thr674Ile) SNV Benign 95747 rs571391 3:100963154-100963154 3:101244310-101244310 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.4G>A (p.Asp2Asn) SNV Benign 95907 rs4904448 14:88852166-88852166 14:88385822-88385822 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.100+12C>T SNV Benign 99592 rs62128766 19:48337812-48337812 19:47834555-47834555 RTN008 Retinitis Pigmentosa RPE65 NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) SNV Benign 98836 rs34627040 1:68897002-68897002 1:68431319-68431319 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.109T>C (p.Leu37=) SNV Benign 99678 rs1800007 11:61719387-61719387 11:61951915-61951915 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.1557C>T (p.Ser519=) SNV Benign 99680 rs1800008 11:61730183-61730183 11:61962711-61962711 RTN008 Retinitis Pigmentosa FTH1 NM_004183.4(BEST1):c.1557C>T (p.Ser519=) SNV Benign 99680 rs1800008 11:61730183-61730183 11:61962711-61962711 RTN008 Retinitis Pigmentosa BEST1 NM_004183.4(BEST1):c.1608T>C (p.Thr536=) SNV Benign 99682 rs1800009 11:61730234-61730234 11:61962762-61962762 RTN008 Retinitis Pigmentosa FTH1 NM_004183.4(BEST1):c.1608T>C (p.Thr536=) SNV Benign 99682 rs1800009 11:61730234-61730234 11:61962762-61962762 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.776T>C (p.Ile259Thr) SNV Benign 99671 rs2064317 6:35477032-35477032 6:35509255-35509255 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) SNV Benign 48464 rs111033269 1:215802242-215802242 1:215628900-215628900 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) SNV Benign 48487 rs111033282 1:216420214-216420214 1:216246872-216246872 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala) SNV Benign 48500 rs148135241 1:216373416-216373416 1:216200074-216200074 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.1419C>T (p.Thr473=) SNV Benign 48431 rs1805050 1:216496947-216496947 1:216323605-216323605 RTN008 Retinitis Pigmentosa CDH23 NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) SNV Benign 45891 rs181255269 10:73453990-73453990 10:71694233-71694233 RTN008 Retinitis Pigmentosa CDH23 NM_022124.6(CDH23):c.429+4G>A SNV Benign 45941 rs397517328 10:73270973-73270973 10:71511216-71511216 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.*730C>T SNV Benign 910217 7:23214647-23214647 7:23175028-23175028 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1663C>T SNV Benign 335599 rs958584 2:29286072-29286072 2:29063206-29063206 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*2929T>C SNV Benign 335573 rs11683284 2:29284806-29284806 2:29061940-29061940 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*2670T>C SNV Benign 335576 rs10185075 2:29285065-29285065 2:29062199-29062199 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*830C>A SNV Benign 335621 rs13016696 2:29286905-29286905 2:29064039-29064039 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1226A>G SNV Benign 335609 rs59633688 2:29286509-29286509 2:29063643-29063643 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1065A>G SNV Benign 335613 rs17007529 2:29286670-29286670 2:29063804-29063804 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.1262A>G (p.Lys421Arg) SNV Benign 335665 rs17007544 2:29295866-29295866 2:29073000-29073000 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.679G>A (p.Glu227Lys) SNV Benign 335668 rs114057537 2:29296449-29296449 2:29073583-29073583 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.60G>A (p.Gln20=) SNV Benign 335674 rs35929540 2:29297068-29297068 2:29074202-29074202 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.5933G>C (p.Gly1978Ala) SNV Benign 337530 rs75956769 2:96942978-96942978 2:96277240-96277240 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.5386C>T (p.Leu1796=) SNV Benign 337535 rs34435094 2:96944387-96944387 2:96278649-96278649 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*2278C>G SNV Benign 342296 rs72930551 3:100943535-100943535 3:101224691-101224691 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*1589A>G SNV Benign 342302 rs6798685 3:100944224-100944224 3:101225380-101225380 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*881T>C SNV Benign 342308 rs75852013 3:100944932-100944932 3:101226088-101226088 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*380C>A SNV Benign 342324 rs488679 3:100945433-100945433 3:101226589-101226589 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.*257C>G SNV Benign 337519 rs560814451 2:96940493-96940493 2:96274755-96274755 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.321A>G (p.Ile107Met) SNV Benign 336744 rs11125895 2:62069358-62069358 2:61842223-61842223 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.489C>T (p.Ala163=) SNV Benign 335069 rs2304773 2:234235820-234235820 2:233327174-233327174 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.-81C>T SNV Benign 337572 rs117673613 2:96971256-96971256 2:96305518-96305518 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.5983G>A (p.Ala1995Thr) SNV Benign 337528 rs201691299 2:96942928-96942928 2:96277190-96277190 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.5418C>T (p.Asp1806=) SNV Benign 337533 rs72937669 2:96944355-96944355 2:96278617-96278617 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*912A>G SNV Benign 343302 rs2855558 3:129253473-129253473 3:129534630-129534630 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*232A>G SNV Benign 343290 rs2410 3:129252793-129252793 3:129533950-129533950 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*2279G>A SNV Benign 335588 rs1562393 2:29285456-29285456 2:29062590-29062590 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*2022G>A SNV Benign 335592 rs4464231 2:29285713-29285713 2:29062847-29062847 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*1371G>A SNV Benign 335605 rs57505815 2:29286364-29286364 2:29063498-29063498 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.321G>C (p.Leu107=) SNV Benign 335068 rs59676190 2:234229415-234229415 2:233320769-233320769 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.1047-13T>C SNV Benign 335072 rs73995909 2:234250904-234250904 2:233342258-233342258 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*2754A>G SNV Benign 335575 rs10187620 2:29284981-29284981 2:29062115-29062115 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*2481G>A SNV Benign 335584 rs17692899 2:29285254-29285254 2:29062388-29062388 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.723G>A (p.Ser241=) SNV Benign 337562 rs2276647 2:96965073-96965073 2:96299335-96299335 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.2422-8C>T SNV Benign 337553 rs79583389 2:96956561-96956561 2:96290823-96290823 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.5317C>T (p.Leu1773=) SNV Benign 337536 rs772175 2:96944553-96944553 2:96278815-96278815 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.*300T>C SNV Benign 336727 rs6748320 2:62053290-62053290 2:61826155-61826155 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.706A>G (p.Ile236Val) SNV Benign 336742 rs17513722 2:62067433-62067433 2:61840298-61840298 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*925T>C SNV Benign 343303 rs60645924 3:129253486-129253486 3:129534643-129534643 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.*311A>C SNV Benign 336726 rs62148138 2:62053279-62053279 2:61826144-61826144 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.*1210T>C SNV Benign 336715 rs3736598 2:62052380-62052380 2:61825245-61825245 RTN008 Retinitis Pigmentosa FAM161A NM_032180.2(FAM161A):c.-41T>C SNV Benign 336747 rs1881616 2:62081217-62081217 2:61854082-61854082 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*2525G>A SNV Benign 335583 rs7607027 2:29285210-29285210 2:29062344-29062344 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*508A>G SNV Benign 335626 rs10196859 2:29287227-29287227 2:29064361-29064361 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*313C>T SNV Benign 343292 rs55941599 3:129252874-129252874 3:129534031-129534031 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*488T>C SNV Benign 343295 rs78163008 3:129253049-129253049 3:129534206-129534206 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*543C>T SNV Benign 335625 rs10495767 2:29287192-29287192 2:29064326-29064326 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*3057C>T SNV Benign 335569 rs75634215 2:29284678-29284678 2:29061812-29061812 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*2585A>G SNV Benign 335578 rs7570356 2:29285150-29285150 2:29062284-29062284 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.1452C>T (p.Ser484=) SNV Benign 335662 rs13385188 2:29295676-29295676 2:29072810-29072810 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.210-11A>T SNV Benign 337567 rs113877776 2:96969079-96969079 2:96303341-96303341 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.-58C>G SNV Benign 337571 rs6721923 2:96971233-96971233 2:96305495-96305495 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.3550T>C (p.Leu1184=) SNV Benign 337548 rs3171927 2:96952833-96952833 2:96287095-96287095 RTN008 Retinitis Pigmentosa SNRNP200 NM_014014.5(SNRNP200):c.5775C>G (p.Ala1925=) SNV Benign 337531 rs72825880 2:96943433-96943433 2:96277695-96277695 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*3780T>A SNV Benign 342277 rs511575 3:100942033-100942033 3:101223189-101223189 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.3381C>T (p.Leu1127=) SNV Benign 342337 rs348867 3:100949842-100949842 3:101230998-101230998 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*1737T>C SNV Benign 342299 rs6796058 3:100944076-100944076 3:101225232-101225232 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*568C>A SNV Benign 342316 rs486814 3:100945245-100945245 3:101226401-101226401 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*4121T>G SNV Benign 342272 rs813449 3:100941692-100941692 3:101222848-101222848 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.*667A>C SNV Benign 347968 rs2240688 4:15970349-15970349 4:15968726-15968726 RTN008 Retinitis Pigmentosa PROM1 NM_006017.3(PROM1):c.*1078A>G SNV Benign 347963 rs3130 4:15969938-15969938 4:15968315-15968315 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.-51G>A SNV Benign 343272 rs2269736 3:129247526-129247526 3:129528683-129528683 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.666+10G>A SNV Benign 342355 rs533852 3:100994497-100994497 3:101275653-101275653 RTN008 Retinitis Pigmentosa SAG NM_000541.5(SAG):c.93G>A (p.Gly31=) SNV Benign 811618 2:234224738-234224738 2:233316092-233316092 RTN008 Retinitis Pigmentosa ROM1 NM_000327.4(ROM1):c.724C>T (p.Arg242Ter) SNV Benign 879754 11:62381863-62381863 11:62614391-62614391 RTN008 Retinitis Pigmentosa USH2A NM_206933.4(USH2A):c.4627+32G>T SNV Benign 876036 1:216348562-216348562 1:216175220-216175220 RTN008 Retinitis Pigmentosa RDH12 NM_152443.3(RDH12):c.*385T>C SNV Benign 882449 14:68200950-68200950 14:67734233-67734233 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.7597A>G (p.Lys2533Glu) SNV Benign 788537 6:64498124-64498124 6:63788231-63788231 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.606T>C (p.Pro202=) SNV Benign 788051 X:46713414-46713414 X:46853979-46853979 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.773G>T (p.Arg258Ile) SNV Benign 780343 2:29296355-29296355 2:29073489-29073489 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.755C>A (p.Ala252Asp) SNV Benign 781944 2:29296373-29296373 2:29073507-29073507 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.177A>G (p.Glu59=) SNV Benign 782818 5:149324060-149324060 5:149944497-149944497 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.459G>A (p.Ala153=) SNV Benign 718619 7:23180404-23180404 7:23140785-23140785 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.924G>A (p.Pro308=) SNV Benign 716931 10:48389954-48389954 10:47349408-47349408 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.3546C>T (p.His1182=) SNV Benign 713874 10:48382103-48382103 10:47357259-47357259 RTN008 Retinitis Pigmentosa FAM161A NM_001201543.2(FAM161A):c.1959G>T (p.Glu653Asp) SNV Benign 718004 2:62054286-62054286 2:61827151-61827151 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3840G>A (p.Ala1280=) SNV Benign 772842 2:29287762-29287762 2:29064896-29064896 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.636G>A (p.Lys212=) SNV Benign 777515 20:2641132-2641132 20:2660486-2660486 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.1942G>A (p.Ala648Thr) SNV Benign 777945 2:29295186-29295186 2:29072320-29072320 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.3761C>T (p.Pro1254Leu) SNV Benign 738564 2:29287841-29287841 2:29064975-29064975 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.1387G>T (p.Val463Phe) SNV Benign 728217 2:29295741-29295741 2:29072875-29072875 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.-117C>T SNV Benign 517097 rs224801 4:48012817-48012817 4:48010800-48010800 RTN008 Retinitis Pigmentosa MERTK NM_006343.3(MERTK):c.1493A>G (p.Asn498Ser) SNV Benign 439895 rs35858762 2:112754942-112754942 2:111997365-111997365 RTN008 Retinitis Pigmentosa CA4 NM_000717.5(CA4):c.*17G>A SNV Benign 889394 17:58236802-58236802 17:60159441-60159441 RTN008 Retinitis Pigmentosa CERKL NM_201548.5(CERKL):c.*347A>G SNV Benign 897633 2:182402564-182402564 2:181537837-181537837 RTN008 Retinitis Pigmentosa PCARE NM_001029883.3(PCARE):c.*2629G>A SNV Benign 897595 2:29285106-29285106 2:29062240-29062240 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.615+11A>G SNV Benign 895337 20:62626456-62626456 20:63995103-63995103 RTN008 Retinitis Pigmentosa IMPG2 NM_016247.4(IMPG2):c.*2917G>A SNV Benign 900088 3:100942896-100942896 3:101224052-101224052 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*1278G>T SNV Benign 899558 3:129253839-129253839 3:129534996-129534996 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2380C>T SNV Benign 329761 rs62128810 19:48345604-48345604 19:47842347-47842347 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.239-13C>T SNV Benign 330096 rs113691122 19:54625226-54625226 19:54121847-54121847 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.420+7G>A SNV Benign 330097 rs143717956 19:54625980-54625980 19:54122601-54122601 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.564G>A (p.Glu188=) SNV Benign 330098 rs1058572 19:54627164-54627164 19:54123785-54123785 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.1449G>A (p.Val483=) SNV Benign 339474 rs111366685 20:62642781-62642781 20:64011428-64011428 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.1647+10C>A SNV Benign 339478 rs816919 20:62648208-62648208 20:64016855-64016855 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.2340-11T>C SNV Benign 339482 rs113298469 20:62659820-62659820 20:64028467-64028467 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.2546+15C>T SNV Benign 339486 rs200759872 20:62660859-62660859 20:64029506-64029506 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.1467C>T (p.Val489=) SNV Benign 330111 rs62144168 19:54634830-54634830 19:54131399-54131399 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.735C>T (p.Pro245=) SNV Benign 330100 rs11556769 19:54627915-54627915 19:54124536-54124536 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.601A>G (p.Ile201Val) SNV Benign 368307 rs149503319 X:46713409-46713409 X:46853974-46853974 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.71+6G>A SNV Benign 339463 rs45566234 20:62612675-62612675 20:63981322-63981322 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.120A>G (p.Ala40=) SNV Benign 339464 rs34062309 20:62614448-62614448 20:63983095-63983095 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.-79C>T SNV Benign 339456 rs114227570 20:62612520-62612520 20:63981167-63981167 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.*7G>A SNV Benign 339491 rs114637353 20:62664353-62664353 20:64033000-64033000 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.*19C>T SNV Benign 339492 rs7550 20:62664365-62664365 20:64033012-64033012 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.-75G>A SNV Benign 339458 rs180973296 20:62612524-62612524 20:63981171-63981171 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.42C>T (p.Pro14=) SNV Benign 339461 rs186249212 20:62612640-62612640 20:63981287-63981287 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.*2156A>G SNV Benign 368325 rs141748740 X:46741360-46741360 X:46881925-46881925 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.*2163T>C SNV Benign 368326 rs35931067 X:46741367-46741367 X:46881932-46881932 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.*2085T>C SNV Benign 368324 rs73478384 X:46741289-46741289 X:46881854-46881854 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.*435C>T SNV Benign 368310 rs147975002 X:46739639-46739639 X:46880204-46880204 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.*828G>A SNV Benign 368312 rs4239962 X:46740032-46740032 X:46880597-46880597 RTN008 Retinitis Pigmentosa PDE6G NM_002602.4(PDE6G):c.*484T>G SNV Benign 325852 rs1126835 17:79617620-79617620 17:81650590-81650590 RTN008 Retinitis Pigmentosa PDE6G NM_002602.4(PDE6G):c.*274C>T SNV Benign 325857 rs1126818 17:79617830-79617830 17:81650800-81650800 RTN008 Retinitis Pigmentosa CA4 NM_000717.5(CA4):c.-47C>G SNV Benign 324224 rs367981628 17:58227349-58227349 17:60149988-60149988 RTN008 Retinitis Pigmentosa CA4 NM_000717.5(CA4):c.-24G>C SNV Benign 324225 rs345191 17:58227372-58227372 17:60150011-60150011 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*1439T>C SNV Benign 325503 rs5742903 17:74541171-74541171 17:76545089-76545089 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*682C>T SNV Benign 329717 rs3859431 19:48343906-48343906 19:47840649-47840649 RTN008 Retinitis Pigmentosa PDE6G NM_002602.4(PDE6G):c.*399C>T SNV Benign 325854 rs13372 17:79617705-79617705 17:81650675-81650675 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*1405C>T SNV Benign 325500 rs4648339 17:74541137-74541137 17:76545055-76545055 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2171C>T SNV Benign 329757 rs77875912 19:48345395-48345395 19:47842138-47842138 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2183T>C SNV Benign 329758 rs7259671 19:48345407-48345407 19:47842150-47842150 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*1289G>A SNV Benign 329739 rs62128809 19:48344513-48344513 19:47841256-47841256 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.1302A>G (p.Val434=) SNV Benign 330109 rs35230170 19:54632673-54632673 19:54129298-54129298 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.1416G>A (p.Val472=) SNV Benign 330110 rs145958840 19:54634779-54634779 19:54131348-54131348 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*400A>T SNV Benign 329708 rs3848536 19:48343624-48343624 19:47840367-47840367 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2155G>A SNV Benign 329756 rs113560570 19:48345379-48345379 19:47842122-47842122 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2559G>C SNV Benign 329765 rs12463238 19:48345783-48345783 19:47842526-47842526 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2106C>T SNV Benign 329753 rs12982537 19:48345330-48345330 19:47842073-47842073 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*966G>C SNV Benign 329730 rs3933489 19:48344190-48344190 19:47840933-47840933 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*1122G>C SNV Benign 329735 rs73576710 19:48344346-48344346 19:47841089-47841089 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2937T>C SNV Benign 329777 rs7248427 19:48346161-48346161 19:47842904-47842904 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*3238G>A SNV Benign 329780 rs4081725 19:48346462-48346462 19:47843205-47843205 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*3301T>C SNV Benign 329783 rs11670620 19:48346525-48346525 19:47843268-47843268 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.6294G>A (p.Lys2098=) SNV Benign 321875 rs11559309 17:1556911-1556911 17:1653617-1653617 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.2631G>A (p.Ala877=) SNV Benign 321901 rs35420265 17:1579270-1579270 17:1675976-1675976 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.1914C>G (p.Leu638=) SNV Benign 321906 rs11078565 17:1580929-1580929 17:1677635-1677635 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.1290-10A>G SNV Benign 321910 rs73291009 17:1582714-1582714 17:1679420-1679420 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.6247C>T (p.Leu2083=) SNV Benign 321876 rs34341522 17:1556958-1556958 17:1653664-1653664 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.5412C>T (p.Asn1804=) SNV Benign 321880 rs151214963 17:1561640-1561640 17:1658346-1658346 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.4707G>A (p.Leu1569=) SNV Benign 321883 rs143237388 17:1563804-1563804 17:1660510-1660510 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.4011A>G (p.Gln1337=) SNV Benign 321886 rs118000367 17:1565211-1565211 17:1661917-1661917 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.3939G>A (p.Pro1313=) SNV Benign 321887 rs35169383 17:1565283-1565283 17:1661989-1661989 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.3775-14T>C SNV Benign 321888 rs3814969 17:1565461-1565461 17:1662167-1662167 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.299G>A (p.Arg100His) SNV Benign 320110 rs13336595 16:57996960-57996960 16:57963056-57963056 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2193C>T (p.Asn731=) SNV Benign 320079 rs376270 16:57950057-57950057 16:57916153-57916153 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.891T>C (p.Asn297=) SNV Benign 321915 rs7503397 17:1584324-1584324 17:1681030-1681030 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.637T>C (p.Leu213=) SNV Benign 321917 rs11559305 17:1585130-1585130 17:1681836-1681836 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.2847G>A (p.Pro949=) SNV Benign 321898 rs33965342 17:1578939-1578939 17:1675645-1675645 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*310T>C SNV Benign 320046 rs57309302 16:57917758-57917758 16:57883854-57883854 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2881G>T (p.Ala961Ser) SNV Benign 320068 rs16942445 16:57935443-57935443 16:57901539-57901539 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1950G>C (p.Pro650=) SNV Benign 320084 rs35424571 16:57953010-57953010 16:57919106-57919106 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.*296G>A SNV Benign 317228 rs2710 15:89753220-89753220 15:89209989-89209989 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*1233T>C SNV Benign 320028 rs9932826 16:57916835-57916835 16:57882931-57882931 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*1185A>C SNV Benign 325492 rs895157 17:74540917-74540917 17:76544835-76544835 RTN008 Retinitis Pigmentosa PDE6G NM_002602.4(PDE6G):c.*233T>C SNV Benign 325858 rs8908 17:79617871-79617871 17:81650841-81650841 RTN008 Retinitis Pigmentosa PDE6G NM_002602.4(PDE6G):c.*45G>A SNV Benign 325860 rs8477 17:79618059-79618059 17:81651029-81651029 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*1397A>G SNV Benign 325499 rs4232870 17:74541129-74541129 17:76545047-76545047 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.*322C>T SNV Benign 317227 rs8039787 15:89753194-89753194 15:89209963-89209963 RTN008 Retinitis Pigmentosa RLBP1 NM_000326.5(RLBP1):c.*167T>G SNV Benign 317230 rs834 15:89753349-89753349 15:89210118-89210118 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*1046C>T SNV Benign 329733 rs62128808 19:48344270-48344270 19:47841013-47841013 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*579T>C SNV Benign 329713 rs4356586 19:48343803-48343803 19:47840546-47840546 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*769G>A SNV Benign 329724 rs55835533 19:48343993-48343993 19:47840736-47840736 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.257G>A (p.Arg86Gln) SNV Benign 320111 rs8055343 16:57998067-57998067 16:57964163-57964163 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.1373-11C>A SNV Benign 320096 rs2303782 16:57965793-57965793 16:57931889-57931889 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*1792C>T SNV Benign 329747 rs56226622 19:48345016-48345016 19:47841759-47841759 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2717G>T SNV Benign 329769 rs11666203 19:48345941-48345941 19:47842684-47842684 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*1346G>A SNV Benign 329741 rs12462534 19:48344570-48344570 19:47841313-47841313 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*3017C>T SNV Benign 329779 rs11666244 19:48346241-48346241 19:47842984-47842984 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*3285C>G SNV Benign 329782 rs62128811 19:48346509-48346509 19:47843252-47843252 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.1230A>G (p.Thr410=) SNV Benign 330107 rs34154455 19:54632515-54632515 19:54129140-54129140 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.*19G>A SNV Benign 330112 rs116685547 19:54634882-54634882 19:54131451-54131451 RTN008 Retinitis Pigmentosa IDH3B NM_006899.5(IDH3B):c.118-3G>C SNV Benign 338028 rs2073193 20:2644407-2644407 20:2663761-2663761 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.6588T>C (p.His2196=) SNV Benign 321874 rs1802491 17:1554770-1554770 17:1651476-1651476 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.5469C>T (p.His1823=) SNV Benign 321879 rs115404141 17:1561583-1561583 17:1658289-1658289 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.3299+14T>C SNV Benign 321893 rs16951071 17:1577722-1577722 17:1674428-1674428 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.-79C>T SNV Benign 321932 rs74635192 17:1588141-1588141 17:1684847-1684847 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.6854-4G>A SNV Benign 321870 rs75996323 17:1554254-1554254 17:1650960-1650960 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.2460C>T (p.Leu820=) SNV Benign 339484 rs61736635 20:62660758-62660758 20:64029405-64029405 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.-25C>T SNV Benign 339460 rs45558633 20:62612574-62612574 20:63981221-63981221 RTN008 Retinitis Pigmentosa ROM1 NM_000327.3(ROM1):c.669G>C (p.Arg223=) SNV Benign 305166 rs1801144 11:62381808-62381808 11:62614336-62614336 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.284A>G (p.Gln95Arg) SNV Benign 314778 rs61747004 14:88883100-88883100 14:88416756-88416756 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.494G>A (p.Ser165Asn) SNV Benign 314782 rs17124662 14:88892697-88892697 14:88426353-88426353 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.1601G>A (p.Arg534Gln) SNV Benign 314790 rs10139784 14:88904567-88904567 14:88438223-88438223 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*919G>A SNV Benign 320033 rs1477405 16:57917149-57917149 16:57883245-57883245 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.3462+7T>C SNV Benign 320059 rs11076207 16:57921752-57921752 16:57887848-57887848 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.2892+6C>T SNV Benign 320067 rs16942441 16:57935426-57935426 16:57901522-57901522 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.440T>G (p.Leu147Arg) SNV Benign 320107 rs61997173 16:57996487-57996487 16:57962583-57962583 RTN008 Retinitis Pigmentosa ROM1 NM_000327.3(ROM1):c.-438G>A SNV Benign 305155 rs576371643 11:62380316-62380316 11:62612844-62612844 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.4639-13G>A SNV Benign 321884 rs62088058 17:1563885-1563885 17:1660591-1660591 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.3061-11T>G SNV Benign 321895 rs11652160 17:1577985-1577985 17:1674691-1674691 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.2873-13T>C SNV Benign 321897 rs57276551 17:1578646-1578646 17:1675352-1675352 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.2601C>T (p.Ile867=) SNV Benign 321902 rs117892584 17:1579300-1579300 17:1676006-1676006 RTN008 Retinitis Pigmentosa NRL NM_006177.5(NRL):c.*667C>T SNV Benign 312930 rs555110362 14:24549778-24549778 14:24080569-24080569 RTN008 Retinitis Pigmentosa NRL NM_006177.5(NRL):c.*173A>T SNV Benign 312937 rs540751400 14:24550272-24550272 14:24081063-24081063 RTN008 Retinitis Pigmentosa PDE6G NM_002602.4(PDE6G):c.*393C>T SNV Benign 325855 rs57654048 17:79617711-79617711 17:81650681-81650681 RTN008 Retinitis Pigmentosa PDE6G NM_002602.4(PDE6G):c.*316G>A SNV Benign 325856 rs60909116 17:79617788-79617788 17:81650758-81650758 RTN008 Retinitis Pigmentosa PDE6G NM_002602.4(PDE6G):c.*570T>C SNV Benign 325850 rs3432 17:79617534-79617534 17:81650504-81650504 RTN008 Retinitis Pigmentosa PRCD NM_001077620.3(PRCD):c.*760C>T SNV Benign 325486 rs2278639 17:74540492-74540492 17:76544410-76544410 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*679G>A SNV Benign 329716 rs112202398 19:48343903-48343903 19:47840646-47840646 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*1455T>A SNV Benign 329742 rs10418834 19:48344679-48344679 19:47841422-47841422 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.101-12A>G SNV Benign 329695 rs73941294 19:48339488-48339488 19:47836231-47836231 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*401A>C SNV Benign 329709 rs3848537 19:48343625-48343625 19:47840368-47840368 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*591G>C SNV Benign 329714 rs3859430 19:48343815-48343815 19:47840558-47840558 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*3279C>T SNV Benign 329781 rs11666316 19:48346503-48346503 19:47843246-47843246 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.-9+14= SNV Benign 330092 rs4806711 19:54619191-54619191 19:54115811-54115811 RTN008 Retinitis Pigmentosa PRPF31 NM_015629.4(PRPF31):c.*46G>A SNV Benign 330113 rs368621219 19:54634909-54634909 19:54131478-54131478 RTN008 Retinitis Pigmentosa CRX NM_000554.6(CRX):c.*2704C>T SNV Benign 329768 rs12974951 19:48345928-48345928 19:47842671-47842671 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*836C>T SNV Benign 320038 rs165999 16:57917232-57917232 16:57883328-57883328 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*33A>G SNV Benign 320053 rs13338071 16:57918035-57918035 16:57884131-57884131 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.*1292A>C SNV Benign 320027 rs9934916 16:57916776-57916776 16:57882872-57882872 RTN008 Retinitis Pigmentosa NRL NM_006177.5(NRL):c.*221G>A SNV Benign 312935 rs3561 14:24550224-24550224 14:24081015-24081015 RTN008 Retinitis Pigmentosa NRL NM_006177.5(NRL):c.*834G>C SNV Benign 312927 rs1051718 14:24549611-24549611 14:24080402-24080402 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.534+7C>G SNV Benign 320105 rs16959600 16:57994737-57994737 16:57960833-57960833 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.453C>T (p.Asp151=) SNV Benign 320106 rs16959602 16:57996474-57996474 16:57962570-57962570 RTN008 Retinitis Pigmentosa CNGB1 NM_001297.5(CNGB1):c.327C>T (p.Gly109=) SNV Benign 320109 rs17821448 16:57996932-57996932 16:57963028-57963028 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.993-7A>G SNV Benign 321914 rs62089988 17:1584132-1584132 17:1680838-1680838 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.435-6T>G SNV Benign 321919 rs75026252 17:1585338-1585338 17:1682044-1682044 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.2493C>G (p.Ser831=) SNV Benign 321903 rs146749363 17:1579560-1579560 17:1676266-1676266 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.2409G>A (p.Ala803=) SNV Benign 321904 rs114284408 17:1579644-1579644 17:1676350-1676350 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.1855-13C>T SNV Benign 321908 rs16951135 17:1581001-1581001 17:1677707-1677707 RTN008 Retinitis Pigmentosa NRL NM_006177.5(NRL):c.441G>A (p.Arg147=) SNV Benign 312941 rs201197984 14:24550718-24550718 14:24081509-24081509 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.357T>G (p.Phe119Leu) SNV Benign 314779 rs35137272 14:88883173-88883173 14:88416829-88416829 RTN008 Retinitis Pigmentosa PRPF8 NM_006445.4(PRPF8):c.3774+6G>A SNV Benign 321889 rs11078563 17:1576369-1576369 17:1673075-1673075 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.1209G>A (p.Ser403=) SNV Benign 339472 rs2427588 20:62641575-62641575 20:64010222-64010222 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.1239G>A (p.Leu413=) SNV Benign 339473 rs41278236 20:62641605-62641605 20:64010252-64010252 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.1524+10A>G SNV Benign 339476 rs201704766 20:62642866-62642866 20:64011513-64011513 RTN008 Retinitis Pigmentosa PRPF6 NM_012469.4(PRPF6):c.2431+15C>T SNV Benign 339483 rs41278240 20:62659937-62659937 20:64028584-64028584 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.971G>A (p.Gly324Glu) SNV Benign 314785 rs17124677 14:88895750-88895750 14:88429406-88429406 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.546T>C (p.Ser182=) SNV Benign 314783 rs17124665 14:88892749-88892749 14:88426405-88426405 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.*472A>C SNV Benign 314809 rs59300815 14:89344226-89344226 14:88877882-88877882 RTN008 Retinitis Pigmentosa TTC8 NM_144596.4(TTC8):c.*238G>A SNV Benign 314807 rs1048190 14:89343992-89343992 14:88877648-88877648 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.*904A>G SNV Benign 368313 rs144870840 X:46740108-46740108 X:46880673-46880673 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.*958A>C SNV Benign 368314 rs190692640 X:46740162-46740162 X:46880727-46880727 RTN008 Retinitis Pigmentosa RP2 NM_006915.3(RP2):c.*1908G>A SNV Benign 368321 rs782216739 X:46741112-46741112 X:46881677-46881677 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.3699C>T (p.Ser1233=) SNV Benign 363293 rs114557304 8:55540141-55540141 8:54627581-54627581 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.4131C>T (p.Asp1377=) SNV Benign 363297 rs538825686 8:55540573-55540573 8:54628013-54628013 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.4784G>A (p.Arg1595Gln) SNV Benign 363303 rs35084330 8:55541226-55541226 8:54628666-54628666 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.5701C>T (p.Leu1901Phe) SNV Benign 363309 rs113793810 8:55542143-55542143 8:54629583-54629583 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.*597G>A SNV Benign 358860 rs1803821 7:128032464-128032464 7:128392410-128392410 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.*318T>G SNV Benign 356460 rs1051952 6:35465786-35465786 6:35498009-35498009 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.*779A>G SNV Benign 359811 rs706013 7:23214696-23214696 7:23175077-23175077 RTN008 Retinitis Pigmentosa RP9 NM_203288.2(RP9):c.*420C>G SNV Benign 360043 rs79133824 7:33134426-33134426 7:33094814-33094814 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*1001C>A SNV Benign 356756 rs45550933 6:42665032-42665032 6:42697294-42697294 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*961A>C SNV Benign 356707 rs566086888 6:42151592-42151592 6:42183854-42183854 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*1357C>T SNV Benign 356750 rs405059 6:42664676-42664676 6:42696938-42696938 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.-73G>A SNV Benign 356741 rs7752629 6:42162631-42162631 6:42194893-42194893 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.171T>C (p.Tyr57=) SNV Benign 356736 rs3749921 6:42162388-42162388 6:42194650-42194650 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.87G>A (p.Val29=) SNV Benign 356737 rs149820788 6:42162472-42162472 6:42194734-42194734 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.475+8G>A SNV Benign 356733 rs114773899 6:42153410-42153410 6:42185672-42185672 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.1722G>A (p.Leu574=) SNV Benign 366569 rs12236253 9:32542801-32542801 9:32542803-32542803 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.*9A>G SNV Benign 366558 rs201576667 9:32541376-32541376 9:32541378-32541378 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.1575G>A (p.Ala525=) SNV Benign 358873 rs2228075 7:128034629-128034629 7:128394575-128394575 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.-13C>T SNV Benign 299998 rs41284964 10:48390890-48390890 10:47348472-47348472 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*2525T>C SNV Benign 363981 rs74318654 8:96257320-96257320 8:95245092-95245092 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.987G>C (p.Leu329=) SNV Benign 358876 rs2288550 7:128038555-128038555 7:128398501-128398501 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.1578T>C (p.Val526=) SNV Benign 359801 rs113256550 7:23213734-23213734 7:23174115-23174115 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.-235G>T SNV Benign 359790 rs75076913 7:23145411-23145411 7:23105792-23105792 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.352C>T (p.Leu118=) SNV Benign 359798 rs15775 7:23164701-23164701 7:23125082-23125082 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2833G>T (p.Val945Leu) SNV Benign 363285 rs16920621 8:55539275-55539275 8:54626715-54626715 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.2991T>C (p.Asn997=) SNV Benign 363288 rs112667487 8:55539433-55539433 8:54626873-54626873 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.576G>T (p.Val192=) SNV Benign 366572 rs116721635 9:32543947-32543947 9:32543949-32543949 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.*65A>G SNV Benign 301323 rs3526 10:86018460-86018460 10:84258704-84258704 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.2435C>G (p.Pro812Arg) SNV Benign 366564 rs36034138 9:32542088-32542088 9:32542090-32542090 RTN008 Retinitis Pigmentosa RP9 NM_203288.2(RP9):c.314-9C>T SNV Benign 360045 rs6462460 7:33136983-33136983 7:33097371-33097371 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.*971G>T SNV Benign 359816 rs78612254 7:23214888-23214888 7:23175269-23175269 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*2163T>C SNV Benign 363984 rs75940981 8:96257682-96257682 8:95245454-95245454 RTN008 Retinitis Pigmentosa RGR NM_001012720.2(RGR):c.*416A>G SNV Benign 301327 rs11817115 10:86018811-86018811 10:84259055-84259055 RTN008 Retinitis Pigmentosa RBP3 NM_002900.3(RBP3):c.2095T>C (p.Leu699=) SNV Benign 299971 rs17095789 10:48388783-48388783 10:47350579-47350579 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.*71C>T SNV Benign 363314 rs185876566 8:55542984-55542984 8:54630424-54630424 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.*72G>A SNV Benign 363315 rs73679499 8:55542985-55542985 8:54630425-54630425 RTN008 Retinitis Pigmentosa C8orf37 NM_177965.4(C8orf37):c.*1458A>C SNV Benign 363993 rs10109660 8:96258387-96258387 8:95246159-95246159 RTN008 Retinitis Pigmentosa RP1 NM_006269.2(RP1):c.3999C>T (p.Tyr1333=) SNV Benign 363296 rs146602041 8:55540441-55540441 8:54627881-54627881 RTN008 Retinitis Pigmentosa TOPORS NM_005802.5(TOPORS):c.2988C>T (p.Leu996=) SNV Benign 366559 rs3814518 9:32541535-32541535 9:32541537-32541537 RTN008 Retinitis Pigmentosa NRL NM_006177.5(NRL):c.*1118G>A SNV Benign 312924 rs77284446 14:24549327-24549327 14:24080118-24080118 RTN008 Retinitis Pigmentosa NRL NM_006177.5(NRL):c.*558C>T SNV Benign 312931 rs114327952 14:24549887-24549887 14:24080678-24080678 RTN008 Retinitis Pigmentosa ROM1 NM_000327.3(ROM1):c.-329G>T SNV Benign 305156 rs3923805 11:62380425-62380425 11:62612953-62612953 RTN008 Retinitis Pigmentosa SPATA7 NM_018418.5(SPATA7):c.191-14C>A SNV Benign 314776 rs60770744 14:88862486-88862486 14:88396142-88396142 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.1632C>T (p.Phe544=) SNV Benign 348836 rs17573673 4:47938879-47938879 4:47936862-47936862 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.*1601C>T SNV Benign 343312 rs187923166 3:129254162-129254162 3:129535319-129535319 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*2769A>C SNV Benign 351939 rs78827133 5:149237689-149237689 5:149858126-149858126 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*2542G>A SNV Benign 351943 rs30884 5:149237916-149237916 5:149858353-149858353 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*608T>C SNV Benign 351972 rs4705389 5:149239850-149239850 5:149860287-149860287 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*1365G>A SNV Benign 351962 rs888895 5:149239093-149239093 5:149859530-149859530 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*2194G>A SNV Benign 351947 rs30886 5:149238264-149238264 5:149858701-149858701 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*2110A>G SNV Benign 351948 rs759816 5:149238348-149238348 5:149858785-149858785 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*1720T>A SNV Benign 351957 rs74869635 5:149238738-149238738 5:149859175-149859175 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*796A>G SNV Benign 351970 rs4705387 5:149239662-149239662 5:149860099-149860099 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*839G>A SNV Benign 356760 rs73426405 6:42665194-42665194 6:42697456-42697456 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*762C>T SNV Benign 356762 rs1758213 6:42665271-42665271 6:42697533-42697533 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*174C>T SNV Benign 356771 rs73426412 6:42665859-42665859 6:42698121-42698121 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.465G>T (p.Glu155Asp) SNV Benign 356734 rs139923590 6:42153428-42153428 6:42185690-42185690 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.-60A>G SNV Benign 356740 rs145820031 6:42162618-42162618 6:42194880-42194880 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.3444-5C>T SNV Benign 357717 rs9445051 6:65336143-65336143 6:64626250-64626250 RTN008 Retinitis Pigmentosa EYS NM_001142800.2(EYS):c.-500A>G SNV Benign 357762 rs1490127 6:66417080-66417080 6:65707187-65707187 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.*634C>T SNV Benign 358858 rs1803822 7:128032427-128032427 7:128392373-128392373 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.2424G>A (p.Glu808=) SNV Benign 351981 rs10067462 5:149242764-149242764 5:149863201-149863201 RTN008 Retinitis Pigmentosa IMPDH1 NM_000883.4(IMPDH1):c.-69T>G SNV Benign 358882 rs72624936 7:128050024-128050024 7:128409970-128409970 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*780C>T SNV Benign 356711 rs144675650 6:42151773-42151773 6:42184035-42184035 RTN008 Retinitis Pigmentosa PDE6B NM_000283.3(PDE6B):c.*191C>A SNV Benign 349405 rs111449765 4:664087-664087 4:670298-670298 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*1375C>T SNV Benign 356749 rs405043 6:42664658-42664658 6:42696920-42696920 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*898C>A SNV Benign 356759 rs3176988 6:42665135-42665135 6:42697397-42697397 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*543G>A SNV Benign 356764 rs432753 6:42665490-42665490 6:42697752-42697752 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*276G>C SNV Benign 356769 rs76754927 6:42665757-42665757 6:42698019-42698019 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*145G>A SNV Benign 356773 rs835 6:42665888-42665888 6:42698150-42698150 RTN008 Retinitis Pigmentosa PRPH2 NM_000322.5(PRPH2):c.*132C>T SNV Benign 356774 rs77363417 6:42665901-42665901 6:42698163-42698163 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*473G>A SNV Benign 356722 rs183630773 6:42152080-42152080 6:42184342-42184342 RTN008 Retinitis Pigmentosa GUCA1B NM_002098.6(GUCA1B):c.*997C>T SNV Benign 356706 rs114197333 6:42151556-42151556 6:42183818-42183818 RTN008 Retinitis Pigmentosa RP9 NM_203288.2(RP9):c.156C>T (p.Tyr52=) SNV Benign 360046 rs115938195 7:33140170-33140170 7:33100558-33100558 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*2009T>C SNV Benign 351954 rs2005909 5:149238449-149238449 5:149858886-149858886 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*2336C>T SNV Benign 351945 rs30885 5:149238122-149238122 5:149858559-149858559 RTN008 Retinitis Pigmentosa TULP1 NM_003322.6(TULP1):c.*268C>A SNV Benign 356464 rs114707578 6:35465836-35465836 6:35498059-35498059 RTN008 Retinitis Pigmentosa KLHL7 NM_001031710.3(KLHL7):c.*35A>G SNV Benign 359803 rs2286273 7:23213952-23213952 7:23174333-23174333 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*2771G>C SNV Benign 351938 rs17110632 5:149237687-149237687 5:149858124-149858124 RTN008 Retinitis Pigmentosa PDE6A NM_000440.3(PDE6A):c.*756T>C SNV Benign 351971 rs4705388 5:149239702-149239702 5:149860139-149860139 RTN008 Retinitis Pigmentosa RHO NM_000539.3(RHO):c.217_219del (p.Asn73del) deletion not provided 91402 rs398122525 3:129247792-129247794 3:129528949-129528951 RTN008 Retinitis Pigmentosa USH2A NM_206933.3(USH2A):c.13948C>T (p.Gln4650Ter) SNV no interpretation for the single variant 636258 1:215844499-215844499 1:215671157-215671157 RTN008 Retinitis Pigmentosa CNGA1 NM_000087.4(CNGA1):c.1582G>C (p.Ala528Pro) SNV not provided 684454 4:47938929-47938929 4:47936912-47936912 RTN008 Retinitis Pigmentosa USH2A NM_007123.5(USH2A):c.672C>A (p.Ser224Arg) SNV no interpretation for the single variant 636259 1:216538407-216538407 1:216365065-216365065 RTN008 Retinitis Pigmentosa CRB1 NM_201253.3(CRB1):c.2129A>T (p.Glu710Val) SNV Pathogenic 438073 rs145282040 1:197396584-197396584 1:197427454-197427454 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.3676G>T (p.Gly1226Ter) SNV Pathogenic 438080 rs757740068 1:197404669-197404669 1:197435539-197435539 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.1431del (p.Ser478fs) deletion Pathogenic 446253 rs1553260321 1:197390387-197390387 1:197421257-197421257 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.3172G>T (p.Glu1058Ter) SNV Pathogenic 521051 rs564754426 1:197404165-197404165 1:197435035-197435035 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2548G>A (p.Gly850Ser) SNV Pathogenic 565382 rs776591659 1:197397003-197397003 1:197427873-197427873 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.437_440AGAT[1] (p.Asp148fs) short repeat Pathogenic 662920 1:197297918-197297921 1:197328788-197328791 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2425C>T (p.Gln809Ter) SNV Pathogenic 647091 1:197396880-197396880 1:197427750-197427750 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.3037C>T (p.Gln1013Ter) SNV Pathogenic 660235 1:197404030-197404030 1:197434900-197434900 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.4168C>T (p.Arg1390Ter) SNV Pathogenic 659686 1:197446956-197446956 1:197477826-197477826 RTN042 Retinitis Pigmentosa 12 CRB1 NC_000001.11:g.(?_197268194)_(197268492_?)del deletion Pathogenic 646396 1:197237324-197237622 1:197268194-197268492 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs) deletion Pathogenic 801599 1:197396986-197396992 1:197427856-197427862 RTN042 Retinitis Pigmentosa 12 CRB1 NC_000001.11:g.(?_197084314)_(197478465_?)del deletion Pathogenic 830716 1:197053444-197447595 RTN042 Retinitis Pigmentosa 12 CRB1 NC_000001.11:g.(?_197268413)_(197357013_?)del deletion Pathogenic 830603 1:197237543-197326143 RTN042 Retinitis Pigmentosa 12 CRB1 NC_000001.11:g.(?_197328412)_(197442544_?)del deletion Pathogenic 832442 1:197297542-197411674 RTN042 Retinitis Pigmentosa 12 CRB1 NC_000001.11:g.(?_197438537)_(197442544_?)del deletion Pathogenic 831883 1:197407667-197411674 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.481del (p.Ala161fs) deletion Pathogenic 856894 1:197297959-197297959 1:197328829-197328829 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.490C>T (p.Gln164Ter) SNV Pathogenic 851408 1:197297971-197297971 1:197328841-197328841 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.522T>A (p.Cys174Ter) SNV Pathogenic 844891 1:197298003-197298003 1:197328873-197328873 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.661_662TG[1] (p.Cys221_Glu222delinsTer) short repeat Pathogenic 844387 1:197313419-197313420 1:197344289-197344290 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.993_994CA[1] (p.Thr332fs) short repeat Pathogenic 840786 1:197325964-197325965 1:197356834-197356835 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.1136C>G (p.Ser379Ter) SNV Pathogenic 848307 1:197326108-197326108 1:197356978-197356978 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.1334_1740del (p.Cys445fs) deletion Pathogenic 861706 1:197390291-197390697 1:197421161-197421567 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.1697del (p.Glu566fs) deletion Pathogenic 844579 1:197390655-197390655 1:197421525-197421525 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val) SNV Pathogenic 846589 1:197404007-197404007 1:197434877-197434877 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.3488G>T (p.Cys1163Phe) SNV Pathogenic 845976 1:197404481-197404481 1:197435351-197435351 RTN042 Retinitis Pigmentosa 12 CRB1 insertion Pathogenic 870263 RTN042 Retinitis Pigmentosa 12 CRB1 CRB1, ALU INS, NT2320 insertion Pathogenic 5729 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr) SNV Pathogenic 5730 rs62635656 1:197404115-197404115 1:197434985-197434985 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2983G>T (p.Glu995Ter) SNV Pathogenic 5731 rs62635655 1:197403976-197403976 1:197434846-197434846 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) SNV Pathogenic 5732 rs62635654 1:197396745-197396745 1:197427615-197427615 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) SNV Pathogenic 5733 rs28939720 1:197396689-197396689 1:197427559-197427559 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter) SNV Pathogenic 5736 rs137853137 1:197396856-197396856 1:197427726-197427726 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.3541T>C (p.Cys1181Arg) SNV Pathogenic 5737 rs62636291 1:197404534-197404534 1:197435404-197435404 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.3996C>A (p.Cys1332Ter) SNV Pathogenic 841844 1:197411413-197411413 1:197442283-197442283 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg) SNV Pathogenic 5739 rs62636275 1:197404300-197404300 1:197435170-197435170 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs) deletion Pathogenic 5740 rs281865175 1:197446905-197446914 1:197477775-197477784 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg) SNV Pathogenic 99870 rs62636264 1:197390396-197390396 1:197421266-197421266 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr) SNV Pathogenic 99883 rs62636271 1:197397010-197397010 1:197427880-197427880 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter) SNV Pathogenic 99888 rs62636273 1:197398590-197398590 1:197429460-197429460 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.613_619del (p.Ile205fs) deletion Pathogenic 99913 rs62645752 1:197298091-197298097 1:197328961-197328967 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter) SNV Pathogenic 143167 rs114342808 1:197390534-197390534 1:197421404-197421404 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) SNV Pathogenic/Likely pathogenic 236478 rs767648174 1:197396763-197396763 1:197427633-197427633 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.584G>T (p.Cys195Phe) SNV Pathogenic/Likely pathogenic 265083 rs764256655 1:197298065-197298065 1:197328935-197328935 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.3988del (p.Glu1330fs) deletion Pathogenic/Likely pathogenic 377183 rs1057520152 1:197411405-197411405 1:197442275-197442275 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr) SNV Pathogenic/Likely pathogenic 99874 rs62636266 1:197391000-197391000 1:197421870-197421870 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.4207G>C (p.Glu1403Gln) SNV Likely pathogenic 859692 1:197446995-197446995 1:197477865-197477865 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.70+2T>A SNV Likely pathogenic 842910 1:197237614-197237614 1:197268484-197268484 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.4006-10A>G SNV Likely pathogenic 851764 1:197446784-197446784 1:197477654-197477654 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2227G>C (p.Val743Leu) SNV Likely pathogenic 216912 rs863224862 1:197396682-197396682 1:197427552-197427552 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys) SNV Likely pathogenic 636015 1:197390850-197390850 1:197421720-197421720 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.99G>T (p.Arg33Ser) SNV Conflicting interpretations of pathogenicity 100609 rs59691602 1:197297580-197297580 1:197328450-197328450 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) SNV Conflicting interpretations of pathogenicity 99914 rs62645749 1:197298095-197298095 1:197328965-197328965 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2809G>A (p.Ala937Thr) SNV Conflicting interpretations of pathogenicity 285879 rs114630940 1:197398711-197398711 1:197429581-197429581 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.1470C>T (p.Gly490=) SNV Conflicting interpretations of pathogenicity 287584 rs35193230 1:197390428-197390428 1:197421298-197421298 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.1533C>T (p.Ala511=) SNV Conflicting interpretations of pathogenicity 166957 rs142224492 1:197390491-197390491 1:197421361-197421361 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.600A>G (p.Thr200=) SNV Conflicting interpretations of pathogenicity 195442 rs77713666 1:197298081-197298081 1:197328951-197328951 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2462C>T (p.Thr821Met) SNV Conflicting interpretations of pathogenicity 198633 rs142857810 1:197396917-197396917 1:197427787-197427787 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln) SNV Conflicting interpretations of pathogenicity 225327 rs114052315 1:197398616-197398616 1:197429486-197429486 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2103C>G (p.Pro701=) SNV Conflicting interpretations of pathogenicity 289997 rs144436610 1:197391061-197391061 1:197421931-197421931 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2230C>A (p.Arg744=) SNV Conflicting interpretations of pathogenicity 294676 rs150412614 1:197396685-197396685 1:197427555-197427555 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.3228T>C (p.Asp1076=) SNV Conflicting interpretations of pathogenicity 294686 rs780576185 1:197404221-197404221 1:197435091-197435091 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.3397G>A (p.Val1133Met) SNV Conflicting interpretations of pathogenicity 294687 rs116246250 1:197404390-197404390 1:197435260-197435260 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) SNV Conflicting interpretations of pathogenicity 372352 rs116471343 1:197396961-197396961 1:197427831-197427831 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.3695A>G (p.His1232Arg) SNV Conflicting interpretations of pathogenicity 294688 rs142090517 1:197404688-197404688 1:197435558-197435558 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2419C>T (p.Leu807=) SNV Conflicting interpretations of pathogenicity 294679 rs371089348 1:197396874-197396874 1:197427744-197427744 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.1752C>T (p.Asp584=) SNV Conflicting interpretations of pathogenicity 294672 rs750442312 1:197390710-197390710 1:197421580-197421580 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2307C>T (p.Arg769=) SNV Conflicting interpretations of pathogenicity 294677 rs151104285 1:197396762-197396762 1:197427632-197427632 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.1647T>C (p.Asn549=) SNV Conflicting interpretations of pathogenicity 99872 rs62636283 1:197390605-197390605 1:197421475-197421475 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) SNV Conflicting interpretations of pathogenicity 39614 rs62645748 1:197403836-197403836 1:197434706-197434706 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) deletion Conflicting interpretations of pathogenicity 96659 rs398124615 1:197297974-197297982 1:197328844-197328852 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.1428C>T (p.Thr476=) SNV Conflicting interpretations of pathogenicity 99869 rs62636282 1:197390386-197390386 1:197421256-197421256 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.484G>A (p.Val162Met) SNV Conflicting interpretations of pathogenicity 5738 rs137853138 1:197297965-197297965 1:197328835-197328835 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro) SNV Conflicting interpretations of pathogenicity 840207 1:197396755-197396755 1:197427625-197427625 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2874C>T (p.Ser958=) SNV Conflicting interpretations of pathogenicity 783243 1:197403867-197403867 1:197434737-197434737 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2976A>G (p.Ala992=) SNV Conflicting interpretations of pathogenicity 772023 1:197403969-197403969 1:197434839-197434839 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.161G>T (p.Cys54Phe) SNV Conflicting interpretations of pathogenicity 783191 1:197297642-197297642 1:197328512-197328512 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.269G>A (p.Gly90Glu) SNV Uncertain significance 835535 1:197297750-197297750 1:197328620-197328620 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.308G>T (p.Ser103Ile) SNV Uncertain significance 858617 1:197297789-197297789 1:197328659-197328659 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2054G>T (p.Gly685Val) SNV Uncertain significance 842319 1:197391012-197391012 1:197421882-197421882 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2243C>T (p.Pro748Leu) SNV Uncertain significance 852584 1:197396698-197396698 1:197427568-197427568 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.1305A>T (p.Gly435=) SNV Uncertain significance 860631 1:197390263-197390263 1:197421133-197421133 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.1086A>T (p.Gln362His) SNV Uncertain significance 862560 1:197326058-197326058 1:197356928-197356928 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.679G>A (p.Glu227Lys) SNV Uncertain significance 844140 1:197313437-197313437 1:197344307-197344307 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.697T>C (p.Cys233Arg) SNV Uncertain significance 852914 1:197313455-197313455 1:197344325-197344325 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.839G>A (p.Gly280Glu) SNV Uncertain significance 851127 1:197313597-197313597 1:197344467-197344467 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.892T>C (p.Cys298Arg) SNV Uncertain significance 841050 1:197316513-197316513 1:197347383-197347383 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.1783G>T (p.Ala595Ser) SNV Uncertain significance 642023 1:197390741-197390741 1:197421611-197421611 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.1292C>T (p.Thr431Ile) SNV Uncertain significance 618046 rs751691851 1:197390250-197390250 1:197421120-197421120 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2405C>T (p.Pro802Leu) SNV Uncertain significance 578182 rs1558132026 1:197396860-197396860 1:197427730-197427730 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.481G>A (p.Ala161Thr) SNV Uncertain significance 424923 rs1064797126 1:197297962-197297962 1:197328832-197328832 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2380C>A (p.His794Asn) SNV Uncertain significance 471782 rs1294237377 1:197396835-197396835 1:197427705-197427705 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser) SNV Uncertain significance 438076 rs910489135 1:197397094-197397094 1:197427964-197427964 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2306G>C (p.Arg769Pro) SNV Uncertain significance 849050 1:197396761-197396761 1:197427631-197427631 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2488A>T (p.Ile830Phe) SNV Uncertain significance 843620 1:197396943-197396943 1:197427813-197427813 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2563G>A (p.Val855Ile) SNV Uncertain significance 846967 1:197397018-197397018 1:197427888-197427888 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2570T>G (p.Leu857Arg) SNV Uncertain significance 836977 1:197397025-197397025 1:197427895-197427895 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2894G>A (p.Ser965Asn) SNV Uncertain significance 857633 1:197403887-197403887 1:197434757-197434757 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.3727A>C (p.Asn1243His) SNV Uncertain significance 837074 1:197404720-197404720 1:197435590-197435590 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.3784G>A (p.Glu1262Lys) SNV Uncertain significance 861171 1:197407711-197407711 1:197438581-197438581 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.3329T>G (p.Phe1110Cys) SNV Uncertain significance 853991 1:197404322-197404322 1:197435192-197435192 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.4001T>C (p.Val1334Ala) SNV Uncertain significance 844111 1:197411418-197411418 1:197442288-197442288 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.4148G>A (p.Arg1383His) SNV Uncertain significance 847770 1:197446936-197446936 1:197477806-197477806 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.4169G>C (p.Arg1390Pro) SNV Uncertain significance 851424 1:197446957-197446957 1:197477827-197477827 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser) SNV Uncertain significance 99887 rs62636290 1:197398583-197398583 1:197429453-197429453 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2272A>T (p.Ser758Cys) SNV Uncertain significance 290001 rs201700675 1:197396727-197396727 1:197427597-197427597 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.866C>T (p.Thr289Met) SNV Likely benign 99917 rs62636263 1:197316487-197316487 1:197347357-197347357 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2823G>A (p.Pro941=) SNV Likely benign 99889 rs62645757 1:197398725-197398725 1:197429595-197429595 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.3171C>T (p.Asn1057=) SNV Likely benign 99894 rs62636284 1:197404164-197404164 1:197435034-197435034 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2977G>A (p.Glu993Lys) SNV Likely benign 707390 1:197403970-197403970 1:197434840-197434840 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.1452C>T (p.Thr484=) SNV Likely benign 760190 1:197390410-197390410 1:197421280-197421280 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.1995T>C (p.Asn665=) SNV Likely benign 763390 1:197390953-197390953 1:197421823-197421823 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2019G>A (p.Lys673=) SNV Likely benign 756613 1:197390977-197390977 1:197421847-197421847 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2235G>A (p.Thr745=) SNV Likely benign 755341 1:197396690-197396690 1:197427560-197427560 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2544C>T (p.Phe848=) SNV Likely benign 758015 1:197396999-197396999 1:197427869-197427869 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2901G>T (p.Gly967=) SNV Likely benign 765807 1:197403894-197403894 1:197434764-197434764 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2925T>C (p.Asn975=) SNV Likely benign 751055 1:197403918-197403918 1:197434788-197434788 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.3042T>C (p.Ser1014=) SNV Likely benign 765884 1:197404035-197404035 1:197434905-197434905 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.162T>C (p.Cys54=) SNV Likely benign 793865 1:197297643-197297643 1:197328513-197328513 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.393T>C (p.Tyr131=) SNV Likely benign 799127 1:197297874-197297874 1:197328744-197328744 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.483C>G (p.Ala161=) SNV Likely benign 795883 1:197297964-197297964 1:197328834-197328834 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.627T>C (p.Thr209=) SNV Likely benign 797208 1:197298108-197298108 1:197328978-197328978 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.747C>T (p.Asp249=) SNV Likely benign 796779 1:197313505-197313505 1:197344375-197344375 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.1206T>C (p.Ser402=) SNV Likely benign 797793 1:197390164-197390164 1:197421034-197421034 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.1332C>T (p.Gly444=) SNV Likely benign 800106 1:197390290-197390290 1:197421160-197421160 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.1431G>A (p.Gly477=) SNV Likely benign 793539 1:197390389-197390389 1:197421259-197421259 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.3120C>T (p.Ser1040=) SNV Likely benign 799076 1:197404113-197404113 1:197434983-197434983 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.3195A>G (p.Thr1065=) SNV Likely benign 798110 1:197404188-197404188 1:197435058-197435058 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2129-8C>T SNV Likely benign 796045 1:197396576-197396576 1:197427446-197427446 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.3306C>T (p.Ile1102=) SNV Likely benign 783231 1:197404299-197404299 1:197435169-197435169 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.591C>T (p.Asn197=) SNV Likely benign 748814 1:197298072-197298072 1:197328942-197328942 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.1089T>C (p.Tyr363=) SNV Likely benign 785917 1:197326061-197326061 1:197356931-197356931 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.156T>C (p.Asn52=) SNV Likely benign 767049 1:197297637-197297637 1:197328507-197328507 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.1075T>G (p.Ser359Ala) SNV Likely benign 766807 1:197326047-197326047 1:197356917-197356917 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.1182C>T (p.Cys394=) SNV Likely benign 771066 1:197390140-197390140 1:197421010-197421010 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2580A>G (p.Gln860=) SNV Likely benign 720024 1:197397035-197397035 1:197427905-197427905 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.1014C>A (p.Ile338=) SNV Likely benign 733582 1:197325986-197325986 1:197356856-197356856 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2040T>C (p.Pro680=) SNV Likely benign 728359 1:197390998-197390998 1:197421868-197421868 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.3992G>A (p.Arg1331His) SNV Benign/Likely benign 99906 rs62636285 1:197411409-197411409 1:197442279-197442279 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.1986A>G (p.Ser662=) SNV Benign/Likely benign 287672 rs115400822 1:197390944-197390944 1:197421814-197421814 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.664G>A (p.Glu222Lys) SNV Benign/Likely benign 294668 rs114846212 1:197313422-197313422 1:197344292-197344292 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2677-8C>T SNV Benign/Likely benign 294680 rs73071678 1:197398571-197398571 1:197429441-197429441 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2715G>A (p.Arg905=) SNV Benign/Likely benign 294681 rs534108312 1:197398617-197398617 1:197429487-197429487 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.4005+4AGC[3] short repeat Benign/Likely benign 294691 rs550852869 1:197411425-197411426 1:197442295-197442296 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2306G>A (p.Arg769His) SNV Benign/Likely benign 99878 rs62636287 1:197396761-197396761 1:197427631-197427631 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.447C>T (p.His149=) SNV Benign 736229 1:197297928-197297928 1:197328798-197328798 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.2538A>T (p.Gly846=) SNV Benign 750591 1:197396993-197396993 1:197427863-197427863 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.1479C>T (p.Phe493=) SNV Benign 710792 1:197390437-197390437 1:197421307-197421307 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.3258T>A (p.Ala1086=) SNV Benign 707685 1:197404251-197404251 1:197435121-197435121 RTN042 Retinitis Pigmentosa 12 CRB1 NM_201253.3(CRB1):c.1410= (p.Leu470=) SNV Benign 471781 rs3902057 1:197390368-197390368 1:197421238-197421238 RTN042 Retinitis Pigmentosa 12 TULP1 NM_003322.6(TULP1):c.1376T>A (p.Ile459Lys) SNV Pathogenic 7359 rs121909075 6:35467877-35467877 6:35500100-35500100 RTN044 Retinitis Pigmentosa 14 TULP1 TULP1, IVS2DS, G-A, +1 SNV Pathogenic 7360 RTN044 Retinitis Pigmentosa 14 TULP1 TULP1, IVS14DS, G-A, +1 SNV Pathogenic 7361 RTN044 Retinitis Pigmentosa 14 TULP1 NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser) SNV Pathogenic 7362 rs121909076 6:35471593-35471593 6:35503816-35503816 RTN044 Retinitis Pigmentosa 14 TULP1 NM_003322.6(TULP1):c.1444C>T (p.Arg482Trp) SNV Pathogenic 7363 rs121909077 6:35467809-35467809 6:35500032-35500032 RTN044 Retinitis Pigmentosa 14 TULP1 NM_003322.6(TULP1):c.1511_1521del (p.Leu504fs) deletion Pathogenic 7364 6:35466212-35466222 6:35498435-35498445 RTN044 Retinitis Pigmentosa 14 TULP1 NM_003322.6(TULP1):c.718+2T>C SNV Pathogenic 7365 6:35477409-35477409 6:35509632-35509632 RTN044 Retinitis Pigmentosa 14 TULP1 NM_003322.6(TULP1):c.1495+1G>A SNV Pathogenic 99665 rs281865168 6:35467757-35467757 6:35499980-35499980 RTN044 Retinitis Pigmentosa 14 TULP1 NM_003322.6(TULP1):c.901C>T (p.Gln301Ter) SNV Pathogenic 828151 6:35473878-35473878 6:35506101-35506101 RTN044 Retinitis Pigmentosa 14 TULP1 NM_003322.6(TULP1):c.1259G>C (p.Arg420Pro) SNV Pathogenic 7357 rs121909073 6:35471400-35471400 6:35503623-35503623 RTN044 Retinitis Pigmentosa 14 TULP1 NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu) SNV Pathogenic/Likely pathogenic 7358 rs121909074 6:35467782-35467782 6:35500005-35500005 RTN044 Retinitis Pigmentosa 14 RPE65 NM_000329.3(RPE65):c.10del (p.Gln4fs) deletion Pathogenic 569113 rs747393487 1:68915579-68915579 1:68449896-68449896 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1067dup (p.Asn356fs) duplication Pathogenic 596673 rs281865520 1:68903930-68903931 1:68438247-68438248 RTN050 Retinitis Pigmentosa 20 RPE65 NC_000001.11:g.(?_68438187)_(68484090_?)del deletion Pathogenic 830561 1:68903870-68949773 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.507C>A (p.Cys169Ter) SNV Pathogenic 838191 1:68906672-68906672 1:68440989-68440989 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.147_148insCAAA (p.Phe50fs) insertion Pathogenic 848072 1:68912490-68912491 1:68446807-68446808 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) SNV Pathogenic 13115 rs61752871 1:68910541-68910541 1:68444858-68444858 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1355T>G (p.Val452Gly) SNV Pathogenic 13116 rs62637004 1:68896843-68896843 1:68431160-68431160 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr) SNV Pathogenic 13117 rs121917744 1:68903911-68903911 1:68438228-68438228 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) SNV Pathogenic 13118 rs61752909 1:68903976-68903976 1:68438293-68438293 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) SNV Pathogenic 29870 rs62653011 1:68903896-68903896 1:68438213-68438213 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) SNV Pathogenic 29873 rs62636300 1:68897011-68897011 1:68431328-68431328 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.11+5G>A SNV Pathogenic 98825 rs61751276 1:68915573-68915573 1:68449890-68449890 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.118G>A (p.Gly40Ser) SNV Pathogenic 98830 rs61751281 1:68912520-68912520 1:68446837-68446837 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.272G>A (p.Arg91Gln) SNV Pathogenic 98857 rs61752873 1:68910540-68910540 1:68444857-68444857 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) deletion Pathogenic 98860 rs62642583 1:68910501-68910520 1:68444818-68444837 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.304G>T (p.Glu102Ter) SNV Pathogenic 98863 rs62642584 1:68910508-68910508 1:68444825-68444825 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) SNV Pathogenic 98866 rs61752877 1:68910339-68910339 1:68444656-68444656 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.131G>A (p.Arg44Gln) SNV Pathogenic 98840 rs61751282 1:68912507-68912507 1:68446824-68446824 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.95-2A>T SNV Pathogenic 98899 rs61751279 1:68912545-68912545 1:68446862-68446862 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1338+1G>A SNV Pathogenic/Likely pathogenic 374139 rs1057518922 1:68896964-68896964 1:68431281-68431281 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) SNV Pathogenic/Likely pathogenic 374497 rs368088025 1:68912508-68912508 1:68446825-68446825 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) SNV Pathogenic/Likely pathogenic 660359 1:68897192-68897192 1:68431509-68431509 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.991_993dup (p.Trp331dup) duplication Likely pathogenic 658837 1:68904629-68904630 1:68438946-68438947 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.617T>C (p.Ile206Thr) SNV Likely pathogenic 829832 1:68906562-68906562 1:68440879-68440879 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr) SNV Likely pathogenic 98873 rs61752883 1:68906680-68906680 1:68440997-68440997 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro) SNV Likely pathogenic 98834 rs62636298 1:68897174-68897174 1:68431491-68431491 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) SNV Likely pathogenic 13120 rs121917745 1:68895518-68895518 1:68429835-68429835 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1445A>G (p.Asp482Gly) SNV Likely pathogenic 850287 1:68896753-68896753 1:68431070-68431070 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr) SNV Likely pathogenic 98904 rs61752908 1:68904634-68904634 1:68438951-68438951 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.168A>G (p.Pro56=) SNV Conflicting interpretations of pathogenicity 196254 rs150260489 1:68912470-68912470 1:68446787-68446787 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.978G>T (p.Val326=) SNV Conflicting interpretations of pathogenicity 98903 rs61752907 1:68904645-68904645 1:68438962-68438962 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1243+10T>C SNV Conflicting interpretations of pathogenicity 298019 rs548537552 1:68897144-68897144 1:68431461-68431461 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1194C>T (p.Asp398=) SNV Conflicting interpretations of pathogenicity 298020 rs139640666 1:68897203-68897203 1:68431520-68431520 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) SNV Conflicting interpretations of pathogenicity 13119 rs61752878 1:68910315-68910315 1:68444632-68444632 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) SNV Conflicting interpretations of pathogenicity 92860 rs149916178 1:68904660-68904660 1:68438977-68438977 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.399T>C (p.Leu133=) SNV Conflicting interpretations of pathogenicity 98867 rs59257923 1:68910310-68910310 1:68444627-68444627 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.432C>T (p.Tyr144=) SNV Conflicting interpretations of pathogenicity 98869 rs56021047 1:68910277-68910277 1:68444594-68444594 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.48T>C (p.Phe16=) SNV Conflicting interpretations of pathogenicity 98871 rs62642581 1:68914353-68914353 1:68448670-68448670 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.102C>A (p.Ile34=) SNV Conflicting interpretations of pathogenicity 770050 1:68912536-68912536 1:68446853-68446853 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.375A>G (p.Gly125=) SNV Conflicting interpretations of pathogenicity 755627 1:68910334-68910334 1:68444651-68444651 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.942C>T (p.His314=) SNV Conflicting interpretations of pathogenicity 772581 1:68904681-68904681 1:68438998-68438998 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.783G>T (p.Leu261=) SNV Conflicting interpretations of pathogenicity 746140 1:68904949-68904949 1:68439266-68439266 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1338+8A>G SNV Conflicting interpretations of pathogenicity 736442 1:68896957-68896957 1:68431274-68431274 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.95-10T>A SNV Conflicting interpretations of pathogenicity 749603 1:68912553-68912553 1:68446870-68446870 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly) SNV Conflicting interpretations of pathogenicity 750796 1:68896768-68896768 1:68431085-68431085 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.242G>T (p.Arg81Ile) SNV Conflicting interpretations of pathogenicity 559523 rs1429137932 1:68912396-68912396 1:68446713-68446713 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.419G>A (p.Gly140Glu) SNV Conflicting interpretations of pathogenicity 467827 rs1191496583 1:68910290-68910290 1:68444607-68444607 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.295G>A (p.Val99Ile) SNV Conflicting interpretations of pathogenicity 789504 1:68910517-68910517 1:68444834-68444834 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1154C>T (p.Thr385Met) SNV Conflicting interpretations of pathogenicity 712719 1:68897243-68897243 1:68431560-68431560 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.441A>G (p.Thr147=) SNV Conflicting interpretations of pathogenicity 716567 1:68910268-68910268 1:68444585-68444585 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.215T>C (p.Phe72Ser) SNV Uncertain significance 467826 rs1553153597 1:68912423-68912423 1:68446740-68446740 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.982C>T (p.Leu328Phe) SNV Uncertain significance 556178 rs1169420841 1:68904641-68904641 1:68438958-68438958 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.755T>C (p.Phe252Ser) SNV Uncertain significance 556104 rs1553153135 1:68904977-68904977 1:68439294-68439294 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1237C>T (p.Arg413Cys) SNV Uncertain significance 647699 1:68897160-68897160 1:68431477-68431477 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.298A>C (p.Ile100Leu) SNV Uncertain significance 857778 1:68910514-68910514 1:68444831-68444831 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.268G>A (p.Val90Ile) SNV Uncertain significance 839599 1:68910544-68910544 1:68444861-68444861 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1533T>G (p.Ser511Arg) SNV Uncertain significance 841793 1:68895528-68895528 1:68429845-68429845 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1519G>T (p.Ala507Ser) SNV Uncertain significance 845835 1:68895542-68895542 1:68429859-68429859 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1322A>G (p.His441Arg) SNV Uncertain significance 849411 1:68896981-68896981 1:68431298-68431298 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu) SNV Uncertain significance 850613 1:68897002-68897002 1:68431319-68431319 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1298A>G (p.Tyr433Cys) SNV Uncertain significance 849102 1:68897005-68897005 1:68431322-68431322 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1169C>T (p.Thr390Ile) SNV Uncertain significance 851559 1:68897228-68897228 1:68431545-68431545 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1098G>C (p.Arg366Ser) SNV Uncertain significance 840590 1:68903900-68903900 1:68438217-68438217 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1070C>A (p.Ala357Asp) SNV Uncertain significance 842218 1:68903928-68903928 1:68438245-68438245 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.751G>A (p.Val251Ile) SNV Uncertain significance 859225 1:68904981-68904981 1:68439298-68439298 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.644-42del deletion Likely benign 98885 rs61752893 1:68905367-68905367 1:68439684-68439684 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.644-43del deletion Likely benign 98886 rs61752894 1:68905368-68905368 1:68439685-68439685 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.75G>A (p.Pro25=) SNV Likely benign 708052 1:68914326-68914326 1:68448643-68448643 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1435T>C (p.Leu479=) SNV Likely benign 730769 1:68896763-68896763 1:68431080-68431080 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.564C>T (p.Thr188=) SNV Likely benign 725212 1:68906615-68906615 1:68440932-68440932 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.237C>T (p.Tyr79=) SNV Likely benign 723574 1:68912401-68912401 1:68446718-68446718 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.886A>C (p.Arg296=) SNV Likely benign 738763 1:68904737-68904737 1:68439054-68439054 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1098G>A (p.Arg366=) SNV Likely benign 751780 1:68903900-68903900 1:68438217-68438217 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.621A>G (p.Val207=) SNV Likely benign 774101 1:68906558-68906558 1:68440875-68440875 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.496-4G>A SNV Likely benign 767213 1:68906687-68906687 1:68441004-68441004 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1152C>G (p.Val384=) SNV Likely benign 788201 1:68897245-68897245 1:68431562-68431562 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.624G>A (p.Lys208=) SNV Likely benign 783253 1:68906555-68906555 1:68440872-68440872 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.117C>T (p.Thr39=) SNV Likely benign 770321 1:68912521-68912521 1:68446838-68446838 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1491A>G (p.Gln497=) SNV Likely benign 798112 1:68895570-68895570 1:68429887-68429887 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1395A>G (p.Ser465=) SNV Likely benign 795785 1:68896803-68896803 1:68431120-68431120 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.777T>C (p.Ile259=) SNV Likely benign 795298 1:68904955-68904955 1:68439272-68439272 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1302G>A (p.Ala434=) SNV Benign/Likely benign 467825 rs62636301 1:68897001-68897001 1:68431318-68431318 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) SNV Benign/Likely benign 92859 rs61752901 1:68904742-68904742 1:68439059-68439059 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1155G>A (p.Thr385=) SNV Benign/Likely benign 98828 rs62653014 1:68897242-68897242 1:68431559-68431559 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.675C>G (p.Ile225Met) SNV Benign/Likely benign 198416 rs114379164 1:68905294-68905294 1:68439611-68439611 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1302G>C (p.Ala434=) SNV Benign/Likely benign 98837 rs62636301 1:68897001-68897001 1:68431318-68431318 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) SNV Benign 98836 rs34627040 1:68897002-68897002 1:68431319-68431319 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1338+20A>C SNV Benign 98841 rs12564647 1:68896945-68896945 1:68431262-68431262 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.1244-5C>T SNV Benign 772770 1:68897064-68897064 1:68431381-68431381 RTN050 Retinitis Pigmentosa 20 RPE65 NM_000329.3(RPE65):c.585C>T (p.Cys195=) SNV Benign 767598 1:68906594-68906594 1:68440911-68440911 RTN050 Retinitis Pigmentosa 20 SNRNP200 NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu) SNV Pathogenic 7928 rs267607077 2:96953706-96953706 2:96287968-96287968 RTN062 Retinitis Pigmentosa 33 SNRNP200 NM_014014.5(SNRNP200):c.3269G>T (p.Arg1090Leu) SNV Pathogenic 39746 rs397514574 2:96953697-96953697 2:96287959-96287959 RTN062 Retinitis Pigmentosa 33 SNRNP200 NM_014014.5(SNRNP200):c.2653C>G (p.Gln885Glu) SNV Pathogenic 39747 rs397514575 2:96956153-96956153 2:96290415-96290415 RTN062 Retinitis Pigmentosa 33 SNRNP200 NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys) SNV Pathogenic/Likely pathogenic 636112 2:96958829-96958829 2:96293091-96293091 RTN062 Retinitis Pigmentosa 33 SNRNP200 NM_014014.5(SNRNP200):c.2438C>T (p.Ala813Val) SNV Likely pathogenic 813998 2:96956537-96956537 2:96290799-96290799 RTN062 Retinitis Pigmentosa 33 SNRNP200 NM_014014.5(SNRNP200):c.4036G>A (p.Val1346Met) SNV Uncertain significance 811347 2:96951046-96951046 2:96285308-96285308 RTN062 Retinitis Pigmentosa 33 SNRNP200 NM_014014.5(SNRNP200):c.382-13T>C SNV Likely benign 811882 2:96967467-96967467 2:96301729-96301729 RTN062 Retinitis Pigmentosa 33 SNRNP200 NM_014014.5(SNRNP200):c.3315A>G (p.Ala1105=) SNV Benign/Likely benign 774164 2:96953651-96953651 2:96287913-96287913 RTN062 Retinitis Pigmentosa 33 SNRNP200 NM_014014.5(SNRNP200):c.2800A>G (p.Thr934Ala) SNV Benign/Likely benign 167714 rs149616320 2:96955677-96955677 2:96289939-96289939 RTN062 Retinitis Pigmentosa 33 SNRNP200 NM_014014.5(SNRNP200):c.3005A>G (p.Asn1002Ser) SNV Benign/Likely benign 195686 rs143529458 2:96955053-96955053 2:96289315-96289315 RTN062 Retinitis Pigmentosa 33 SNRNP200 NM_014014.5(SNRNP200):c.5766C>T (p.Leu1922=) SNV Benign/Likely benign 197443 rs147427344 2:96943442-96943442 2:96277704-96277704 RTN062 Retinitis Pigmentosa 33 SNRNP200 NM_014014.5(SNRNP200):c.723G>A (p.Ser241=) SNV Benign 337562 rs2276647 2:96965073-96965073 2:96299335-96299335 RTN062 Retinitis Pigmentosa 33 PRCD NM_001077620.3(PRCD):c.5G>A (p.Cys2Tyr) SNV Pathogenic 1188 rs121918369 17:74536228-74536228 17:76540146-76540146 RTN065 Retinitis Pigmentosa 36 PRCD NM_001077620.3(PRCD):c.64C>T (p.Arg22Ter) SNV Pathogenic 37041 rs387907268 17:74536287-74536287 17:76540205-76540205 RTN065 Retinitis Pigmentosa 36 PRCD NM_001077620.3(PRCD):c.2T>C (p.Met1Thr) SNV Pathogenic 143095 rs527236092 17:74536225-74536225 17:76540143-76540143 RTN065 Retinitis Pigmentosa 36 PRPH2 NM_000322.4(PRPH2):c.356_358delGCT (p.Cys119del) short repeat Pathogenic 13162 rs61755777 6:42689715-42689717 6:42721977-42721979 RTN069 Retinitis Pigmentosa 7 PRPH2 NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu) SNV Pathogenic 13164 rs61755806 6:42672284-42672284 6:42704546-42704546 RTN069 Retinitis Pigmentosa 7 PRPH2 NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro) SNV Pathogenic 13165 rs121918563 6:42689519-42689519 6:42721781-42721781 RTN069 Retinitis Pigmentosa 7 PRPH2 NM_000322.5(PRPH2):c.732C>A (p.Asn244Lys) SNV Pathogenic 13172 rs61755816 6:42672199-42672199 6:42704461-42704461 RTN069 Retinitis Pigmentosa 7 PRPH2 NM_000322.5(PRPH2):c.458_460AGA[1] (p.Lys154del) short repeat Pathogenic 13178 rs61755786 6:42689610-42689612 6:42721872-42721874 RTN069 Retinitis Pigmentosa 7 PRPH2 PRPH2, 1-BP DEL, 1160T deletion Pathogenic 13180 RTN069 Retinitis Pigmentosa 7 PRPH2 NM_000322.5(PRPH2):c.518A>T (p.Asp173Val) SNV Pathogenic 13181 rs61755794 6:42689555-42689555 6:42721817-42721817 RTN069 Retinitis Pigmentosa 7 PRPH2 NM_000322.5(PRPH2):c.637T>C (p.Cys213Arg) SNV Pathogenic 98691 rs61755802 6:42672294-42672294 6:42704556-42704556 RTN069 Retinitis Pigmentosa 7 PRPH2 NM_000322.5(PRPH2):c.656_658del (p.Pro219del) deletion Pathogenic 98697 rs61755807 6:42672273-42672275 6:42704535-42704537 RTN069 Retinitis Pigmentosa 7 PRPH2 NM_000322.5(PRPH2):c.394del (p.Gln132fs) deletion Pathogenic 684461 6:42689679-42689679 6:42721941-42721941 RTN069 Retinitis Pigmentosa 7 ROM1 NM_000327.3(ROM1):c.239dup (p.Val81fs) duplication Pathogenic 12997 rs1387102485 11:62380989-62380990 11:62613517-62613518 RTN069 Retinitis Pigmentosa 7 PRPH2 NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) SNV Pathogenic/Likely pathogenic 13179 rs61755771 6:42689937-42689937 6:42722199-42722199 RTN069 Retinitis Pigmentosa 7 ROM1 NM_000327.3(ROM1):c.339dup (p.Leu114fs) duplication Conflicting interpretations of pathogenicity 12998 rs71458427 11:62381083-62381084 11:62613611-62613612 RTN069 Retinitis Pigmentosa 7 ROM1 NM_000327.3(ROM1):c.812T>C (p.Met271Thr) SNV Benign/Likely benign 195063 rs137950927 11:62381951-62381951 11:62614479-62614479 RTN069 Retinitis Pigmentosa 7 TRNS2 m.12258C>A SNV Pathogenic 9560 rs118203888 MT:12258-12258 MT:12258-12258 RTN187 Retinitis Pigmentosa-Deafness Syndrome WHRN NM_015404.4(WHRN):c.33C>G (p.Ser11Arg) SNV Conflicting interpretations of pathogenicity 45677 rs45527543 9:117267049-117267049 9:114504769-114504769 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.2290-13del deletion Conflicting interpretations of pathogenicity 45892 rs397517316 10:73455161-73455161 10:71695404-71695404 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) SNV Conflicting interpretations of pathogenicity 46040 rs202052174 10:73563128-73563128 10:71803371-71803371 RTN187 Retinitis Pigmentosa-Deafness Syndrome PCDH15 NM_033056.4(PCDH15):c.5245_5247CCT[3] (p.Pro1752del) short repeat Conflicting interpretations of pathogenicity 46488 rs397517462 10:55582230-55582232 10:53822470-53822472 RTN187 Retinitis Pigmentosa-Deafness Syndrome PCDH15 NM_033056.4(PCDH15):c.5281_5286GCTCCT[1] (p.1761_1762AP[1]) short repeat Conflicting interpretations of pathogenicity 46493 rs397517465 10:55582194-55582199 10:53822434-53822439 RTN187 Retinitis Pigmentosa-Deafness Syndrome HARS1 NM_012208.4(HARS2):c.7C>G (p.Leu3Val) SNV Conflicting interpretations of pathogenicity 137536 rs186043734 5:140071240-140071240 5:140691655-140691655 RTN187 Retinitis Pigmentosa-Deafness Syndrome HARS2 NM_012208.4(HARS2):c.7C>G (p.Leu3Val) SNV Conflicting interpretations of pathogenicity 137536 rs186043734 5:140071240-140071240 5:140691655-140691655 RTN187 Retinitis Pigmentosa-Deafness Syndrome MYO7A NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=) SNV Conflicting interpretations of pathogenicity 178488 rs372535399 11:76910862-76910862 11:77199817-77199817 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr) SNV Conflicting interpretations of pathogenicity 178315 rs144688588 10:73572643-73572643 10:71812886-71812886 RTN187 Retinitis Pigmentosa-Deafness Syndrome PSAP NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr) SNV Conflicting interpretations of pathogenicity 178315 rs144688588 10:73572643-73572643 10:71812886-71812886 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) SNV Conflicting interpretations of pathogenicity 178317 rs377118941 10:73574996-73574996 10:71815239-71815239 RTN187 Retinitis Pigmentosa-Deafness Syndrome PSAP NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) SNV Conflicting interpretations of pathogenicity 178317 rs377118941 10:73574996-73574996 10:71815239-71815239 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.9198+13C>T SNV Conflicting interpretations of pathogenicity 300472 rs375384238 10:73571205-73571205 10:71811448-71811448 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.9739-12G>A SNV Conflicting interpretations of pathogenicity 300475 rs200638595 10:73574697-73574697 10:71814940-71814940 RTN187 Retinitis Pigmentosa-Deafness Syndrome PSAP NM_022124.6(CDH23):c.9739-12G>A SNV Conflicting interpretations of pathogenicity 300475 rs200638595 10:73574697-73574697 10:71814940-71814940 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.*68G>C SNV Conflicting interpretations of pathogenicity 300482 rs527311705 10:73575103-73575103 10:71815346-71815346 RTN187 Retinitis Pigmentosa-Deafness Syndrome PSAP NM_022124.6(CDH23):c.*68G>C SNV Conflicting interpretations of pathogenicity 300482 rs527311705 10:73575103-73575103 10:71815346-71815346 RTN187 Retinitis Pigmentosa-Deafness Syndrome HARS1 NM_002109.6(HARS1):c.1312-8C>T SNV Conflicting interpretations of pathogenicity 227423 rs772505507 5:140054418-140054418 5:140674833-140674833 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn) SNV Conflicting interpretations of pathogenicity 300473 rs368441850 10:73571482-73571482 10:71811725-71811725 RTN187 Retinitis Pigmentosa-Deafness Syndrome PSAP NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn) SNV Conflicting interpretations of pathogenicity 300473 rs368441850 10:73571482-73571482 10:71811725-71811725 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp) SNV Conflicting interpretations of pathogenicity 300477 rs562590210 10:73574830-73574830 10:71815073-71815073 RTN187 Retinitis Pigmentosa-Deafness Syndrome PSAP NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp) SNV Conflicting interpretations of pathogenicity 300477 rs562590210 10:73574830-73574830 10:71815073-71815073 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.*515C>A SNV Conflicting interpretations of pathogenicity 300494 rs16929375 10:73575550-73575550 10:71815793-71815793 RTN187 Retinitis Pigmentosa-Deafness Syndrome PSAP NM_022124.6(CDH23):c.*515C>A SNV Conflicting interpretations of pathogenicity 300494 rs16929375 10:73575550-73575550 10:71815793-71815793 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) SNV Conflicting interpretations of pathogenicity 300478 rs376804660 10:73574912-73574912 10:71815155-71815155 RTN187 Retinitis Pigmentosa-Deafness Syndrome PSAP NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) SNV Conflicting interpretations of pathogenicity 300478 rs376804660 10:73574912-73574912 10:71815155-71815155 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.*361C>A SNV Conflicting interpretations of pathogenicity 300490 rs115033851 10:73575396-73575396 10:71815639-71815639 RTN187 Retinitis Pigmentosa-Deafness Syndrome PSAP NM_022124.6(CDH23):c.*361C>A SNV Conflicting interpretations of pathogenicity 300490 rs115033851 10:73575396-73575396 10:71815639-71815639 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.*430A>T SNV Conflicting interpretations of pathogenicity 300491 rs562268606 10:73575465-73575465 10:71815708-71815708 RTN187 Retinitis Pigmentosa-Deafness Syndrome PSAP NM_022124.6(CDH23):c.*430A>T SNV Conflicting interpretations of pathogenicity 300491 rs562268606 10:73575465-73575465 10:71815708-71815708 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.*434G>A SNV Conflicting interpretations of pathogenicity 300492 rs529522213 10:73575469-73575469 10:71815712-71815712 RTN187 Retinitis Pigmentosa-Deafness Syndrome PSAP NM_022124.6(CDH23):c.*434G>A SNV Conflicting interpretations of pathogenicity 300492 rs529522213 10:73575469-73575469 10:71815712-71815712 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.*588del deletion Conflicting interpretations of pathogenicity 300495 rs148667421 10:73575621-73575621 10:71815864-71815864 RTN187 Retinitis Pigmentosa-Deafness Syndrome PSAP NM_022124.6(CDH23):c.*588del deletion Conflicting interpretations of pathogenicity 300495 rs148667421 10:73575621-73575621 10:71815864-71815864 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.-45_-41AGGCG[4] short repeat Conflicting interpretations of pathogenicity 300394 rs71012280 10:73157033-73157034 10:71397276-71397277 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys) SNV Conflicting interpretations of pathogenicity 300476 rs201727938 10:73574769-73574769 10:71815012-71815012 RTN187 Retinitis Pigmentosa-Deafness Syndrome PSAP NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys) SNV Conflicting interpretations of pathogenicity 300476 rs201727938 10:73574769-73574769 10:71815012-71815012 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.*104G>C SNV Conflicting interpretations of pathogenicity 300485 rs377312107 10:73575139-73575139 10:71815382-71815382 RTN187 Retinitis Pigmentosa-Deafness Syndrome PSAP NM_022124.6(CDH23):c.*104G>C SNV Conflicting interpretations of pathogenicity 300485 rs377312107 10:73575139-73575139 10:71815382-71815382 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.*141G>A SNV Conflicting interpretations of pathogenicity 300487 rs535544696 10:73575176-73575176 10:71815419-71815419 RTN187 Retinitis Pigmentosa-Deafness Syndrome PSAP NM_022124.6(CDH23):c.*141G>A SNV Conflicting interpretations of pathogenicity 300487 rs535544696 10:73575176-73575176 10:71815419-71815419 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.446C>T (p.Thr149Met) SNV Uncertain significance 300401 rs370947344 10:73326515-73326515 10:71566758-71566758 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.5727T>C (p.Thr1909=) SNV Uncertain significance 300446 rs756919394 10:73545402-73545402 10:71785645-71785645 RTN187 Retinitis Pigmentosa-Deafness Syndrome PCDH15 NM_033056.4(PCDH15):c.*127dup duplication Uncertain significance 300163 rs548021914 10:55581490-55581491 10:53821730-53821731 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.-197_-191GAGCGGC[3] short repeat Uncertain significance 300391 rs527578984 10:73156882-73156888 10:71397125-71397131 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.*117dup duplication Uncertain significance 300486 rs886047145 10:73575150-73575151 10:71815393-71815394 RTN187 Retinitis Pigmentosa-Deafness Syndrome WHRN NM_015404.4(WHRN):c.*325dup duplication Uncertain significance 364673 rs886063369 9:117164708-117164709 9:114402428-114402429 RTN187 Retinitis Pigmentosa-Deafness Syndrome WHRN NM_015404.4(WHRN):c.*37C>G SNV Uncertain significance 364678 rs549195233 9:117164997-117164997 9:114402717-114402717 RTN187 Retinitis Pigmentosa-Deafness Syndrome MYO7A NM_000260.4(MYO7A):c.2759G>A (p.Arg920Gln) SNV Uncertain significance 306180 rs565162134 11:76892490-76892490 11:77181444-77181444 RTN187 Retinitis Pigmentosa-Deafness Syndrome MYO7A NM_000260.4(MYO7A):c.-160G>A SNV Uncertain significance 306149 rs576789908 11:76839422-76839422 11:77128376-77128376 RTN187 Retinitis Pigmentosa-Deafness Syndrome USH1G NM_173477.5(USH1G):c.*1903_*1905dup duplication Uncertain significance 325029 rs886053382 17:72912259-72912260 17:74916167-74916168 RTN187 Retinitis Pigmentosa-Deafness Syndrome USH1G NM_173477.5(USH1G):c.*1168_*1169TG[8] short repeat Uncertain significance 325036 rs746904393 17:72912983-72912984 17:74916891-74916892 RTN187 Retinitis Pigmentosa-Deafness Syndrome USH1G NM_173477.5(USH1G):c.*1150_*1151TG[5] short repeat Uncertain significance 325038 rs368387485 17:72913004-72913005 17:74916912-74916913 RTN187 Retinitis Pigmentosa-Deafness Syndrome PCDH15 NM_033056.4(PCDH15):c.*147_*150dup duplication Uncertain significance 300161 rs886047057 10:55581467-55581468 10:53821707-53821708 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.1621G>A (p.Glu541Lys) SNV Uncertain significance 252736 rs562019725 10:73437319-73437319 10:71677562-71677562 RTN187 Retinitis Pigmentosa-Deafness Syndrome PCDH15 NM_033056.4(PCDH15):c.*268_*269del deletion Uncertain significance 300160 rs886047056 10:55581349-55581350 10:53821589-53821590 RTN187 Retinitis Pigmentosa-Deafness Syndrome PCDH15 NM_033056.4(PCDH15):c.706-17_706-14del short repeat Uncertain significance 300200 rs886047068 10:56077215-56077218 10:54317455-54317458 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.-197_-191GAGCGGC[5] short repeat Uncertain significance 300390 rs527578984 10:73156881-73156882 10:71397124-71397125 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.3109G>A (p.Gly1037Ser) SNV Uncertain significance 300421 rs886047133 10:73468857-73468857 10:71709100-71709100 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.4147G>A (p.Asp1383Asn) SNV Uncertain significance 300430 rs752442832 10:73494039-73494039 10:71734282-71734282 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.7661-9C>T SNV Uncertain significance 300457 rs577559462 10:73562957-73562957 10:71803200-71803200 RTN187 Retinitis Pigmentosa-Deafness Syndrome CLRN1 NM_052995.2(CLRN1):c.342+406GT[15] short repeat Uncertain significance 343807 rs34027634 3:150645418-150645419 3:150927631-150927632 RTN187 Retinitis Pigmentosa-Deafness Syndrome CLRN1 NM_052995.2(CLRN1):c.342+406GT[12] short repeat Uncertain significance 343810 rs34027634 3:150645419-150645422 3:150927632-150927635 RTN187 Retinitis Pigmentosa-Deafness Syndrome CLRN1 NM_052995.2(CLRN1):c.342+394AT[5] short repeat Uncertain significance 343813 rs550716419 3:150645447-150645448 3:150927660-150927661 RTN187 Retinitis Pigmentosa-Deafness Syndrome HARS1 NM_002109.6(HARS1):c.397-10_397-9del deletion Uncertain significance 351238 rs886060020 5:140058721-140058722 5:140679136-140679137 RTN187 Retinitis Pigmentosa-Deafness Syndrome HARS1 NM_012208.4(HARS2):c.-166G>C SNV Uncertain significance 351250 rs570668430 5:140071068-140071068 5:140691483-140691483 RTN187 Retinitis Pigmentosa-Deafness Syndrome HARS1 NM_002109.6(HARS1):c.*331A>T SNV Uncertain significance 351233 rs886060018 5:140053511-140053511 5:140673926-140673926 RTN187 Retinitis Pigmentosa-Deafness Syndrome HARS1 NM_002109.6(HARS1):c.*312C>G SNV Uncertain significance 351234 rs145532449 5:140053530-140053530 5:140673945-140673945 RTN187 Retinitis Pigmentosa-Deafness Syndrome HARS1 NM_002109.6(HARS1):c.800T>C (p.Ile267Thr) SNV Uncertain significance 351237 rs766324898 5:140056935-140056935 5:140677350-140677350 RTN187 Retinitis Pigmentosa-Deafness Syndrome HARS1 NM_002109.6(HARS1):c.182G>A (p.Gly61Asp) SNV Uncertain significance 351241 rs886060021 5:140062803-140062803 5:140683218-140683218 RTN187 Retinitis Pigmentosa-Deafness Syndrome HARS1 NM_002109.6(HARS1):c.-3G>A SNV Uncertain significance 351244 rs754488411 5:140070892-140070892 5:140691307-140691307 RTN187 Retinitis Pigmentosa-Deafness Syndrome HARS1 NM_012208.4(HARS2):c.-117G>C SNV Uncertain significance 351252 rs886060023 5:140071117-140071117 5:140691532-140691532 RTN187 Retinitis Pigmentosa-Deafness Syndrome HARS1 NM_002109.6(HARS1):c.*281C>T SNV Uncertain significance 351235 rs77576083 5:140053561-140053561 5:140673976-140673976 RTN187 Retinitis Pigmentosa-Deafness Syndrome HARS1 NM_002109.6(HARS1):c.951+15G>T SNV Uncertain significance 351236 rs886060019 5:140056559-140056559 5:140676974-140676974 RTN187 Retinitis Pigmentosa-Deafness Syndrome HARS1 NM_002109.6(HARS1):c.390C>T (p.Asp130=) SNV Uncertain significance 351239 rs754863405 5:140059379-140059379 5:140679794-140679794 RTN187 Retinitis Pigmentosa-Deafness Syndrome HARS1 NM_002109.6(HARS1):c.382C>T (p.Arg128Cys) SNV Uncertain significance 351240 rs138582560 5:140059387-140059387 5:140679802-140679802 RTN187 Retinitis Pigmentosa-Deafness Syndrome HARS1 NM_002109.6(HARS1):c.-46A>G SNV Uncertain significance 351246 rs369183621 5:140070935-140070935 5:140691350-140691350 RTN187 Retinitis Pigmentosa-Deafness Syndrome HARS1 NM_002109.6(HARS1):c.-64C>T SNV Uncertain significance 351247 rs113209109 5:140070953-140070953 5:140691368-140691368 RTN187 Retinitis Pigmentosa-Deafness Syndrome HARS1 NM_012208.4(HARS2):c.-187C>G SNV Uncertain significance 351249 rs537319282 5:140071047-140071047 5:140691462-140691462 RTN187 Retinitis Pigmentosa-Deafness Syndrome HARS1 NM_012208.4(HARS2):c.-160C>A SNV Uncertain significance 351251 rs781279092 5:140071074-140071074 5:140691489-140691489 RTN187 Retinitis Pigmentosa-Deafness Syndrome HARS1 NM_002109.6(HARS1):c.103G>A (p.Val35Met) SNV Uncertain significance 351242 rs144588417 5:140070517-140070517 5:140690932-140690932 RTN187 Retinitis Pigmentosa-Deafness Syndrome HARS1 NM_002109.6(HARS1):c.-1G>A SNV Uncertain significance 351243 rs746588443 5:140070890-140070890 5:140691305-140691305 RTN187 Retinitis Pigmentosa-Deafness Syndrome HARS1 NM_002109.6(HARS1):c.-23G>A SNV Uncertain significance 351245 rs545016707 5:140070912-140070912 5:140691327-140691327 RTN187 Retinitis Pigmentosa-Deafness Syndrome HARS1 NM_001258040.2(HARS1):c.-126T>C SNV Uncertain significance 351248 rs886060022 5:140071015-140071015 5:140691430-140691430 RTN187 Retinitis Pigmentosa-Deafness Syndrome PCDH15 NM_033056.4(PCDH15):c.3502-10del deletion Uncertain significance 300180 rs750835578 10:55626627-55626627 10:53866867-53866867 RTN187 Retinitis Pigmentosa-Deafness Syndrome PCDH15 NM_033056.4(PCDH15):c.1220C>T (p.Ser407Phe) SNV Uncertain significance 300196 rs886047067 10:55955528-55955528 10:54195768-54195768 RTN187 Retinitis Pigmentosa-Deafness Syndrome USH2A NM_206933.3(USH2A):c.4627+945AT[3] short repeat Uncertain significance 295408 rs886045946 1:216347642-216347643 1:216174300-216174301 RTN187 Retinitis Pigmentosa-Deafness Syndrome USH2A NM_007123.5(USH2A):c.3317-14del deletion Uncertain significance 295434 rs376363548 1:216373477-216373477 1:216200135-216200135 RTN187 Retinitis Pigmentosa-Deafness Syndrome USH2A NM_007123.5(USH2A):c.1789C>A (p.His597Asn) SNV Uncertain significance 295440 rs201127450 1:216465568-216465568 1:216292226-216292226 RTN187 Retinitis Pigmentosa-Deafness Syndrome USH2A NM_007123.5(USH2A):c.4252-36CTTT[7] short repeat Uncertain significance 295427 rs372388546 1:216363721-216363722 1:216190379-216190380 RTN187 Retinitis Pigmentosa-Deafness Syndrome USH2A NM_206933.3(USH2A):c.4627+1205_4627+1208del deletion Uncertain significance 295404 rs751661540 1:216347386-216347389 1:216174044-216174047 RTN187 Retinitis Pigmentosa-Deafness Syndrome USH2A NM_007123.5(USH2A):c.-229C>T SNV Uncertain significance 295451 rs151238022 1:216596580-216596580 1:216423238-216423238 RTN187 Retinitis Pigmentosa-Deafness Syndrome CLRN1 NM_052995.2(CLRN1):c.342+406GT[16] short repeat Uncertain significance 343808 rs34027634 3:150645418-150645419 3:150927631-150927632 RTN187 Retinitis Pigmentosa-Deafness Syndrome CLRN1 NM_052995.2(CLRN1):c.342+406GT[11] short repeat Uncertain significance 343811 rs34027634 3:150645419-150645424 3:150927632-150927637 RTN187 Retinitis Pigmentosa-Deafness Syndrome USH1G NM_173477.5(USH1G):c.*1168_*1169TG[6] short repeat Likely benign 325037 rs746904393 17:72912984-72912985 17:74916892-74916893 RTN187 Retinitis Pigmentosa-Deafness Syndrome MYO7A NM_000260.3(MYO7A):c.*546C>T SNV Likely benign 368975 rs115812166 11:76926287-76926287 11:77215242-77215242 RTN187 Retinitis Pigmentosa-Deafness Syndrome MYO7A NM_000260.3(MYO7A):c.*560C>T SNV Likely benign 368976 rs35776264 11:76926301-76926301 11:77215256-77215256 RTN187 Retinitis Pigmentosa-Deafness Syndrome USH1G NM_173477.5(USH1G):c.*1990A>G SNV Likely benign 369224 rs113905467 17:72912175-72912175 17:74916083-74916083 RTN187 Retinitis Pigmentosa-Deafness Syndrome WHRN NM_015404.4(WHRN):c.-608_-601del deletion Likely benign 364711 rs150944893 9:117267682-117267689 9:114505402-114505409 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.*510G>A SNV Benign/Likely benign 300493 rs1054635 10:73575545-73575545 10:71815788-71815788 RTN187 Retinitis Pigmentosa-Deafness Syndrome PSAP NM_022124.6(CDH23):c.*510G>A SNV Benign/Likely benign 300493 rs1054635 10:73575545-73575545 10:71815788-71815788 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.*204A>G SNV Benign/Likely benign 300488 rs2290022 10:73575239-73575239 10:71815482-71815482 RTN187 Retinitis Pigmentosa-Deafness Syndrome PSAP NM_022124.6(CDH23):c.*204A>G SNV Benign/Likely benign 300488 rs2290022 10:73575239-73575239 10:71815482-71815482 RTN187 Retinitis Pigmentosa-Deafness Syndrome HARS1 NM_002109.6(HARS1):c.1458+7G>A SNV Benign/Likely benign 226650 rs58302597 5:140054257-140054257 5:140674672-140674672 RTN187 Retinitis Pigmentosa-Deafness Syndrome USH2A NM_007123.5(USH2A):c.4252-36CTTT[5] short repeat Benign/Likely benign 178671 rs372388546 1:216363722-216363725 1:216190380-216190383 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.9319+11G>A SNV Benign/Likely benign 46071 rs11000013 10:73571521-73571521 10:71811764-71811764 RTN187 Retinitis Pigmentosa-Deafness Syndrome PSAP NM_022124.6(CDH23):c.9319+11G>A SNV Benign/Likely benign 46071 rs11000013 10:73571521-73571521 10:71811764-71811764 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) SNV Benign/Likely benign 46072 rs45583140 10:73571765-73571765 10:71812008-71812008 RTN187 Retinitis Pigmentosa-Deafness Syndrome PSAP NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) SNV Benign/Likely benign 46072 rs45583140 10:73571765-73571765 10:71812008-71812008 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) SNV Benign/Likely benign 46080 rs2290021 10:73574843-73574843 10:71815086-71815086 RTN187 Retinitis Pigmentosa-Deafness Syndrome PSAP NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) SNV Benign/Likely benign 46080 rs2290021 10:73574843-73574843 10:71815086-71815086 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser) SNV Benign/Likely benign 45913 rs41281310 10:73472494-73472494 10:71712737-71712737 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.-45_-41AGGCG[2] short repeat Benign/Likely benign 300395 rs71012280 10:73157034-73157038 10:71397277-71397281 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_002778.4(PSAP):c.1350+5G>A SNV Benign/Likely benign 258809 rs11000016 10:73579217-73579217 10:71819460-71819460 RTN187 Retinitis Pigmentosa-Deafness Syndrome PSAP NM_002778.4(PSAP):c.1350+5G>A SNV Benign/Likely benign 258809 rs11000016 10:73579217-73579217 10:71819460-71819460 RTN187 Retinitis Pigmentosa-Deafness Syndrome HARS1 NM_002109.6(HARS1):c.588C>T (p.Cys196=) SNV Benign/Likely benign 226651 rs2230361 5:140057535-140057535 5:140677950-140677950 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_002778.4(PSAP):c.*891G>A SNV Benign/Likely benign 300498 rs7869 10:73576307-73576307 10:71816550-71816550 RTN187 Retinitis Pigmentosa-Deafness Syndrome PSAP NM_002778.4(PSAP):c.*891G>A SNV Benign/Likely benign 300498 rs7869 10:73576307-73576307 10:71816550-71816550 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.*349A>G SNV Benign/Likely benign 300489 rs1867978 10:73575384-73575384 10:71815627-71815627 RTN187 Retinitis Pigmentosa-Deafness Syndrome PSAP NM_022124.6(CDH23):c.*349A>G SNV Benign/Likely benign 300489 rs1867978 10:73575384-73575384 10:71815627-71815627 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp) SNV Benign 45937 rs1227065 10:73492079-73492079 10:71732322-71732322 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.4723G>A (p.Ala1575Thr) SNV Benign 45955 rs1227051 10:73501556-73501556 10:71741799-71741799 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.5411G>A (p.Arg1804Gln) SNV Benign 45978 rs3802711 10:73544086-73544086 10:71784329-71784329 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys) SNV Benign 46002 rs10466026 10:73550969-73550969 10:71791212-71791212 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.7139C>T (p.Pro2380Leu) SNV Benign 46028 rs4747195 10:73558952-73558952 10:71799195-71799195 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala) SNV Benign 45872 rs1227049 10:73434888-73434888 10:71675131-71675131 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) SNV Benign 45891 rs181255269 10:73453990-73453990 10:71694233-71694233 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.4846-16805A>C SNV Benign 802586 10:73520632-73520632 10:71760875-71760875 RTN187 Retinitis Pigmentosa-Deafness Syndrome CDH23 NM_022124.6(CDH23):c.4846-4260A>G SNV Benign 802587 10:73533177-73533177 10:71773420-71773420 RTN187 Retinitis Pigmentosa-Deafness Syndrome WHRN NM_015404.4(WHRN):c.1091= (p.His364=) SNV Benign 45640 rs10817610 9:117188566-117188566 9:114426286-114426286 RTN187 Retinitis Pigmentosa-Deafness Syndrome WHRN NM_015404.4(WHRN):c.1318G>A (p.Ala440Thr) SNV Benign 45647 rs4978584 9:117186712-117186712 9:114424432-114424432 RTN187 Retinitis Pigmentosa-Deafness Syndrome WHRN NM_015404.4(WHRN):c.1684C>G (p.Pro562Ala) SNV Benign 45661 rs12339210 9:117170241-117170241 9:114407961-114407961 RTN187 Retinitis Pigmentosa-Deafness Syndrome WHRN NM_015404.4(WHRN):c.2388C>A (p.Asn796Lys) SNV Benign 45674 rs2274158 9:117166206-117166206 9:114403926-114403926 RTN187 Retinitis Pigmentosa-Deafness Syndrome WHRN NM_015404.4(WHRN):c.2256= (p.Gln752=) SNV Benign 163045 rs6478078 9:117166338-117166338 9:114404058-114404058 RTN187 Retinitis Pigmentosa-Deafness Syndrome CLRN1 NM_052995.2(CLRN1):c.342+406GT[13] short repeat Benign 343809 rs34027634 3:150645419-150645420 3:150927632-150927633 RTN187 Retinitis Pigmentosa-Deafness Syndrome USH1C NM_153676.4(USH1C):c.*419_*420insAACA insertion Benign 303793 rs10626485 11:17515459-17515460 11:17493912-17493913 RTN187 Retinitis Pigmentosa-Deafness Syndrome USH1G NM_173477.2(USH1G):c.*371delA deletion Benign 325047 rs1555522334 17:72913797-72913797 RTN187 Retinitis Pigmentosa-Deafness Syndrome RRM2B NM_001172477.1(RRM2B):c.1066C>T (p.Gln356Ter) SNV Pathogenic 5386 rs121918307 8:103225057-103225057 8:102212829-102212829 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.538-2A>G SNV Pathogenic 5387 rs515726185 8:103237248-103237248 8:102225020-102225020 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.796G>A (p.Glu266Lys) SNV Pathogenic 5388 rs121918308 8:103231146-103231146 8:102218918-102218918 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.923G>T (p.Cys308Phe) SNV Pathogenic 5390 rs121918309 8:103226364-103226364 8:102214136-102214136 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.1195C>T (p.Arg399Ter) SNV Pathogenic 5391 rs121918310 8:103220438-103220438 8:102208210-102208210 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.902G>T (p.Gly301Val) SNV Pathogenic 5392 rs121918311 8:103226385-103226385 8:102214157-102214157 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.545G>A (p.Arg182His) SNV Pathogenic 5393 rs267607025 8:103237239-103237239 8:102225011-102225011 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.578G>A (p.Arg193His) SNV Pathogenic 5394 rs267607024 8:103237206-103237206 8:102224978-102224978 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.1166del (p.Ser388_Leu389insTer) deletion Pathogenic 30432 rs515726199 8:103220467-103220467 8:102208239-102208239 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.1181dup (p.Asn394fs) duplication Pathogenic 30433 rs515726201 8:103220451-103220452 8:102208223-102208224 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.-5G>A SNV Pathogenic 132103 rs515726180 8:103251055-103251055 8:102238827-102238827 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.337C>T (p.Arg113Trp) SNV Pathogenic 132104 rs515726181 8:103244460-103244460 8:102232232-102232232 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.338G>A (p.Arg113Gln) SNV Pathogenic 132105 rs200273673 8:103244459-103244459 8:102232231-102232231 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.338G>C (p.Arg113Pro) SNV Pathogenic 132106 rs200273673 8:103244459-103244459 8:102232231-102232231 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.406T>C (p.Trp136Arg) SNV Pathogenic 132107 rs515726182 8:103244391-103244391 8:102232163-102232163 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.424G>A (p.Asp142Asn) SNV Pathogenic 132108 rs515726183 8:103238259-103238259 8:102226031-102226031 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.538-2A>C SNV Pathogenic 132110 rs515726185 8:103237248-103237248 8:102225020-102225020 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.544C>T (p.Arg182Cys) SNV Pathogenic 132112 rs515726186 8:103237240-103237240 8:102225012-102225012 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.584T>C (p.Phe195Ser) SNV Pathogenic 132113 rs515726187 8:103237200-103237200 8:102224972-102224972 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.607G>A (p.Glu203Lys) SNV Pathogenic 132114 rs515726188 8:103237177-103237177 8:102224949-102224949 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.772A>G (p.Arg258Gly) SNV Pathogenic 132116 rs515726190 8:103231170-103231170 8:102218942-102218942 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.797A>G (p.Glu266Gly) SNV Pathogenic 132117 rs515726191 8:103231145-103231145 8:102218917-102218917 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.799G>A (p.Gly267Arg) SNV Pathogenic 132118 rs515726192 8:103231143-103231143 8:102218915-102218915 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.800del (p.Gly267fs) deletion Pathogenic 132119 rs515726193 8:103231142-103231142 8:102218914-102218914 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.848G>A (p.Arg283Lys) SNV Pathogenic 132121 rs515726195 8:103231094-103231094 8:102218866-102218866 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.1062G>C (p.Met354Ile) SNV Pathogenic 132123 rs182614164 8:103225061-103225061 8:102212833-102212833 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.1136del (p.Asn379fs) deletion Pathogenic 132124 rs515726197 8:103220497-103220497 8:102208269-102208269 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.1165T>G (p.Leu389Val) SNV Pathogenic 132125 rs515726198 8:103220468-103220468 8:102208240-102208240 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.1168G>T (p.Glu390Ter) SNV Pathogenic 132127 rs515726200 8:103220465-103220465 8:102208237-102208237 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.1262C>G (p.Ala421Gly) SNV Pathogenic 132129 rs515726202 8:103220371-103220371 8:102208143-102208143 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.887T>G (p.Ile296Ser) SNV Pathogenic/Likely pathogenic 132122 rs515726196 8:103231055-103231055 8:102218827-102218827 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.469_471del (p.Glu157del) deletion Likely pathogenic 132109 rs515726184 8:103238212-103238214 8:102225984-102225986 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.822T>A (p.Phe274Leu) SNV Conflicting interpretations of pathogenicity 30434 rs515726194 8:103231120-103231120 8:102218892-102218892 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.1033G>A (p.Gly345Ser) SNV Conflicting interpretations of pathogenicity 30435 rs387906891 8:103225090-103225090 8:102212862-102212862 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.313C>T (p.Pro105Ser) SNV Conflicting interpretations of pathogenicity 30436 rs387906892 8:103244484-103244484 8:102232256-102232256 RRM002 Rrm2b-Related Mitochondrial Disease RRM2B NM_001172477.1(RRM2B):c.647C>T (p.Thr216Ile) SNV Uncertain significance 132115 rs515726189 8:103237137-103237137 8:102224909-102224909 RRM002 Rrm2b-Related Mitochondrial Disease AGK NM_018238.4(AGK):c.298-2A>G SNV Pathogenic 488464 rs1554401640 7:141310993-141310993 7:141611193-141611193 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.141+2T>C SNV Pathogenic 30823 rs1554399572 7:141292987-141292987 7:141593187-141593187 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.1170T>G (p.Tyr390Ter) SNV Pathogenic 30824 rs1554405935 7:141352625-141352625 7:141652825-141652825 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.975+1G>T SNV Pathogenic 30825 rs868431923 7:141341709-141341709 7:141641909-141641909 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.517C>T (p.Gln173Ter) SNV Pathogenic 30827 rs387907024 7:141315364-141315364 7:141615564-141615564 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.306T>G (p.Tyr102Ter) SNV Pathogenic 30828 rs1554401641 7:141311003-141311003 7:141611203-141611203 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.841C>T (p.Arg281Ter) SNV Pathogenic 30829 rs387907025 7:141341162-141341162 7:141641362-141641362 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.672C>G (p.Tyr224Ter) SNV Pathogenic 30830 rs771945804 7:141336763-141336763 7:141636963-141636963 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.1131+5G>A SNV Pathogenic 30831 rs542547163 7:141351414-141351414 7:141651614-141651614 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.409C>T (p.Arg137Ter) SNV Pathogenic 209130 rs746709222 7:141313964-141313964 7:141614164-141614164 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.424-3C>G SNV Pathogenic 209129 rs766413410 7:141315268-141315268 7:141615468-141615468 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.3G>C (p.Met1Ile) SNV Pathogenic 214076 rs863223895 7:141255269-141255269 7:141555469-141555469 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.390+1G>A SNV Likely pathogenic 467793 rs777096695 7:141311088-141311088 7:141611288-141611288 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.1211_1237del (p.Leu404_Lys412del) deletion Likely pathogenic 488465 rs1554405947 7:141352666-141352692 7:141652866-141652892 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.1215dup (p.Phe406fs) duplication Likely pathogenic 617460 7:141352669-141352670 7:141652869-141652870 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.72G>A (p.Trp24Ter) SNV Likely pathogenic 800899 7:141255338-141255338 7:141555538-141555538 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.877+2T>G SNV Likely pathogenic 804407 7:141341200-141341200 7:141641400-141641400 SNG007 Sengers Syndrome AGK NC_000007.14:g.141621734_141621735AT[1] short repeat Likely pathogenic 873475 7:141321534-141321535 7:141621734-141621735 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.684G>A (p.Gly228=) SNV Conflicting interpretations of pathogenicity 514781 rs150732826 7:141336775-141336775 7:141636975-141636975 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.1141_1142dup (p.Ser382fs) duplication Conflicting interpretations of pathogenicity 524160 rs1554405928 7:141352592-141352593 7:141652792-141652793 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.877+14C>T SNV Conflicting interpretations of pathogenicity 136319 rs41275003 7:141341212-141341212 7:141641412-141641412 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.863C>T (p.Ala288Val) SNV Conflicting interpretations of pathogenicity 214070 rs763068104 7:141341184-141341184 7:141641384-141641384 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.1088C>T (p.Thr363Met) SNV Conflicting interpretations of pathogenicity 214079 rs142069429 7:141351366-141351366 7:141651566-141651566 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.424-11T>C SNV Conflicting interpretations of pathogenicity 359056 rs200973491 7:141315260-141315260 7:141615460-141615460 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.727-9C>T SNV Conflicting interpretations of pathogenicity 214067 rs199977261 7:141341039-141341039 7:141641239-141641239 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.1098C>T (p.Leu366=) SNV Conflicting interpretations of pathogenicity 359066 rs369042931 7:141351376-141351376 7:141651576-141651576 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.-14-3T>C SNV Conflicting interpretations of pathogenicity 383284 rs371437227 7:141255250-141255250 7:141555450-141555450 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.877+15G>A SNV Conflicting interpretations of pathogenicity 381287 rs201052151 7:141341213-141341213 7:141641413-141641413 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.1131+11A>G SNV Conflicting interpretations of pathogenicity 377453 rs202069684 7:141351420-141351420 7:141651620-141651620 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*82_*83del deletion Uncertain significance 359067 rs886062021 7:141352805-141352806 7:141653005-141653006 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*1233_*1236del deletion Uncertain significance 359082 rs886062028 7:141353956-141353959 7:141654156-141654159 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*1237G>A SNV Uncertain significance 359083 rs202211411 7:141353961-141353961 7:141654161-141654161 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*1319G>A SNV Uncertain significance 359086 rs535922151 7:141354043-141354043 7:141654243-141654243 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*1331_*1334del deletion Uncertain significance 359087 rs886062030 7:141354052-141354055 7:141654252-141654255 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.763A>G (p.Thr255Ala) SNV Uncertain significance 359062 rs886062020 7:141341084-141341084 7:141641284-141641284 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.963G>A (p.Gln321=) SNV Uncertain significance 359064 rs746403177 7:141341696-141341696 7:141641896-141641896 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*319del deletion Uncertain significance 359070 rs142235678 7:141353043-141353043 7:141653243-141653243 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*354_*356CTT[1] short repeat Uncertain significance 359072 rs886062023 7:141353077-141353079 7:141653277-141653279 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*365G>A SNV Uncertain significance 359073 rs886062024 7:141353089-141353089 7:141653289-141653289 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*1301C>T SNV Uncertain significance 359084 rs553433680 7:141354025-141354025 7:141654225-141654225 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.803C>A (p.Thr268Asn) SNV Uncertain significance 214068 rs142779190 7:141341124-141341124 7:141641324-141641324 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*1127C>A SNV Uncertain significance 359079 rs886062027 7:141353851-141353851 7:141654051-141654051 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.-162G>A SNV Uncertain significance 359050 rs148553992 7:141251087-141251087 7:141551287-141551287 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.-100G>A SNV Uncertain significance 359052 rs552726046 7:141251149-141251149 7:141551349-141551349 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.-36G>A SNV Uncertain significance 359055 rs570988835 7:141251213-141251213 7:141551413-141551413 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.637T>C (p.Ser213Pro) SNV Uncertain significance 359060 rs886062019 7:141333749-141333749 7:141633949-141633949 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*933C>T SNV Uncertain significance 359075 rs73171606 7:141353657-141353657 7:141653857-141653857 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*967T>C SNV Uncertain significance 359076 rs886062026 7:141353691-141353691 7:141653891-141653891 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*1024C>T SNV Uncertain significance 359078 rs78124534 7:141353748-141353748 7:141653948-141653948 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*1308_*1311del deletion Uncertain significance 359085 rs886062029 7:141354029-141354032 7:141654229-141654232 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.-88G>C SNV Uncertain significance 359053 rs886062018 7:141251161-141251161 7:141551361-141551361 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.743A>C (p.His248Pro) SNV Uncertain significance 359061 rs150160397 7:141341064-141341064 7:141641264-141641264 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.1052G>A (p.Arg351Gln) SNV Uncertain significance 359065 rs374861637 7:141351330-141351330 7:141651530-141651530 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*265G>A SNV Uncertain significance 359069 rs886062022 7:141352989-141352989 7:141653189-141653189 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.-139G>A SNV Uncertain significance 359051 rs886062017 7:141251110-141251110 7:141551310-141551310 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.-75G>C SNV Uncertain significance 359054 rs560194759 7:141251174-141251174 7:141551374-141551374 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.297+3A>G SNV Uncertain significance 910681 7:141301083-141301083 7:141601283-141601283 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.976-9C>T SNV Uncertain significance 911967 7:141349054-141349054 7:141649254-141649254 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*97G>T SNV Uncertain significance 909036 7:141352821-141352821 7:141653021-141653021 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*125C>T SNV Uncertain significance 909037 7:141352849-141352849 7:141653049-141653049 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.257C>G (p.Pro86Arg) SNV Uncertain significance 535810 rs762680550 7:141301040-141301040 7:141601240-141601240 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.1039_1044del (p.Thr347_Ile348del) deletion Uncertain significance 661404 7:141349122-141349127 7:141649322-141649327 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.55C>T (p.Leu19Phe) SNV Uncertain significance 909780 7:141255321-141255321 7:141555521-141555521 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.217A>G (p.Lys73Glu) SNV Uncertain significance 910680 7:141296437-141296437 7:141596637-141596637 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.355A>G (p.Ile119Val) SNV Uncertain significance 910682 7:141311052-141311052 7:141611252-141611252 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.511A>G (p.Lys171Glu) SNV Uncertain significance 911913 7:141315358-141315358 7:141615558-141615558 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.619A>G (p.Thr207Ala) SNV Uncertain significance 908978 7:141333731-141333731 7:141633931-141633931 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.742C>T (p.His248Tyr) SNV Uncertain significance 908979 7:141341063-141341063 7:141641263-141641263 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*197C>T SNV Uncertain significance 909896 7:141352921-141352921 7:141653121-141653121 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*231C>T SNV Uncertain significance 909897 7:141352955-141352955 7:141653155-141653155 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*241A>G SNV Uncertain significance 910799 7:141352965-141352965 7:141653165-141653165 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*364C>G SNV Uncertain significance 910800 7:141353088-141353088 7:141653288-141653288 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*621T>C SNV Uncertain significance 912010 7:141353345-141353345 7:141653545-141653545 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*662A>G SNV Uncertain significance 912011 7:141353386-141353386 7:141653586-141653586 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*754G>A SNV Uncertain significance 909096 7:141353478-141353478 7:141653678-141653678 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*758T>C SNV Uncertain significance 909097 7:141353482-141353482 7:141653682-141653682 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*1006T>C SNV Uncertain significance 909952 7:141353730-141353730 7:141653930-141653930 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*1067T>G SNV Uncertain significance 909953 7:141353791-141353791 7:141653991-141653991 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*1126T>A SNV Uncertain significance 909954 7:141353850-141353850 7:141654050-141654050 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*1467T>C SNV Likely benign 912069 7:141354191-141354191 7:141654391-141654391 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*58G>A SNV Likely benign 909035 7:141352782-141352782 7:141652982-141652982 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.26G>A (p.Arg9Gln) SNV Likely benign 703559 7:141255292-141255292 7:141555492-141555492 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.416C>G (p.Thr139Arg) SNV Likely benign 467794 rs144706178 7:141313971-141313971 7:141614171-141614171 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.579G>A (p.Leu193=) SNV Likely benign 712378 7:141321592-141321592 7:141621792-141621792 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*992G>A SNV Likely benign 359077 rs191308473 7:141353716-141353716 7:141653916-141653916 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*463_*466dup duplication Likely benign 359074 rs143849281 7:141353185-141353186 7:141653385-141653386 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.804C>T (p.Thr268=) SNV Benign/Likely benign 359063 rs543549513 7:141341125-141341125 7:141641325-141641325 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.17A>G (p.Lys6Arg) SNV Benign/Likely benign 214064 rs148294392 7:141255283-141255283 7:141555483-141555483 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.424-5C>T SNV Benign/Likely benign 359057 rs113599212 7:141315266-141315266 7:141615466-141615466 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.424-4C>G SNV Benign/Likely benign 359058 rs113085050 7:141315267-141315267 7:141615467-141615467 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*1175C>T SNV Benign 359080 rs71545336 7:141353899-141353899 7:141654099-141654099 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*320G>A SNV Benign 359071 rs3735282 7:141353044-141353044 7:141653244-141653244 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*184C>T SNV Benign 909895 7:141352908-141352908 7:141653108-141653108 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.424-4C>A SNV Benign 703335 7:141315267-141315267 7:141615467-141615467 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.101+5C>T SNV Benign 136318 rs150421355 7:141255372-141255372 7:141555572-141555572 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*1210A>T SNV Benign 359081 rs184938991 7:141353934-141353934 7:141654134-141654134 SNG007 Sengers Syndrome AGK NM_018238.4(AGK):c.*141C>T SNV Benign 359068 rs6943245 7:141352865-141352865 7:141653065-141653065 SNG007 Sengers Syndrome POGZ NM_015100.4(POGZ):c.2771del (p.Pro924fs) deletion Pathogenic 523510 rs1553212868 1:151378740-151378740 1:151406264-151406264 SNS001 Sensorineural Hearing Loss RET NM_020975.6(RET):c.1276_1277TG[2] (p.Val427fs) short repeat Pathogenic 590798 rs1564494285 10:43606667-43606668 10:43111219-43111220 SNS001 Sensorineural Hearing Loss TMCO1 NM_019026.4(TMCO1):c.616C>T (p.Arg206Ter) SNV Pathogenic 598963 rs765379963 1:165712409-165712409 1:165743172-165743172 SNS001 Sensorineural Hearing Loss CDC14A NM_003672.4(CDC14A):c.1033C>T (p.Arg345Ter) SNV Pathogenic 559439 rs549556142 1:100949903-100949903 1:100484347-100484347 SNS001 Sensorineural Hearing Loss KARS1 NM_001130089.1(KARS1):c.1438del (p.Leu480fs) deletion Pathogenic 560389 rs1567498374 16:75664391-75664391 16:75630493-75630493 SNS001 Sensorineural Hearing Loss WFS1 NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter) SNV Pathogenic 598973 rs771409809 4:6303521-6303521 4:6301794-6301794 SNS001 Sensorineural Hearing Loss CDC14A NM_003672.4(CDC14A):c.1351_1352del (p.Ala451fs) deletion Pathogenic 691620 1:100963693-100963694 1:100498137-100498138 SNS001 Sensorineural Hearing Loss CDC14A NM_003672.4(CDC14A):c.1126C>T (p.Arg376Ter) SNV Pathogenic 235145 rs876661408 1:100949996-100949996 1:100484440-100484440 SNS001 Sensorineural Hearing Loss TRNL1 NC_012920.1:m.3243A>G SNV Pathogenic 9589 rs199474657 MT:3243-3243 MT:3243-3243 SNS001 Sensorineural Hearing Loss CEP78 NM_001330691.3(CEP78):c.893-1G>A SNV Pathogenic 372269 rs1057517694 9:80863206-80863206 9:78248290-78248290 SNS001 Sensorineural Hearing Loss CEP78 NM_001330691.3(CEP78):c.534del (p.Lys179fs) deletion Pathogenic 372270 rs1057517695 9:80856645-80856645 9:78241729-78241729 SNS001 Sensorineural Hearing Loss COL11A2 NM_080680.3(COL11A2):c.4430G>T (p.Gly1477Val) SNV Likely pathogenic 374129 rs745434198 6:33133760-33133760 6:33165983-33165983 SNS001 Sensorineural Hearing Loss GIPC3 NM_133261.3(GIPC3):c.400G>A (p.Ala134Thr) SNV Likely pathogenic 620637 rs1348505504 19:3586667-3586667 19:3586669-3586669 SNS001 Sensorineural Hearing Loss GJB2 NM_004004.6(GJB2):c.196G>T (p.Asp66Tyr) SNV Likely pathogenic 586962 rs104894403 13:20763525-20763525 13:20189386-20189386 SNS001 Sensorineural Hearing Loss HARS2 NM_012208.4(HARS2):c.72C>A (p.Cys24Ter) SNV Likely pathogenic 635273 5:140071305-140071305 5:140691720-140691720 SNS001 Sensorineural Hearing Loss HARS2 NM_012208.4(HARS2):c.413G>A (p.Arg138His) SNV Likely pathogenic 635272 5:140075106-140075106 5:140695521-140695521 SNS001 Sensorineural Hearing Loss HARS2 NM_012208.4(HARS2):c.828delinsGTATCCCTAGTATTTCTACTA (p.Gly277_Val278insTyrProTer) indel Likely pathogenic 635271 5:140076529-140076529 5:140696944-140696944 SNS001 Sensorineural Hearing Loss HARS2 NM_012208.4(HARS2):c.1439G>A (p.Arg480His) SNV Likely pathogenic 635270 5:140077641-140077641 5:140698056-140698056 SNS001 Sensorineural Hearing Loss CHN1 NM_001822.7(CHN1):c.667G>A (p.Ala223Thr) SNV Likely pathogenic 598971 rs1558939623 2:175689207-175689207 2:174824479-174824479 SNS001 Sensorineural Hearing Loss CDH23 NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) SNV Likely pathogenic 444219 rs756147087 10:73464800-73464800 10:71705043-71705043 SNS001 Sensorineural Hearing Loss TECTA NM_005422.2(TECTA):c.3107G>A (p.Cys1036Tyr) SNV Likely pathogenic 517663 rs772606235 11:121008295-121008295 11:121137586-121137586 SNS001 Sensorineural Hearing Loss AIFM1 NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr) SNV Likely pathogenic 374094 rs1057518895 X:129271109-129271109 X:130137134-130137134 SNS001 Sensorineural Hearing Loss LMX1A NM_177398.4(LMX1A):c.1106T>C (p.Ile369Thr) SNV Conflicting interpretations of pathogenicity 517667 rs763320093 1:165173160-165173160 1:165203923-165203923 SNS001 Sensorineural Hearing Loss SOX3 NM_005634.2(SOX3):c.735_737dup (p.Ala248dup) duplication Conflicting interpretations of pathogenicity 95305 rs398124211 X:139586488-139586489 X:140504323-140504324 SNS001 Sensorineural Hearing Loss GIPC3 NM_133261.3(GIPC3):c.122C>A (p.Thr41Lys) SNV Conflicting interpretations of pathogenicity 163502 rs727503062 19:3585717-3585717 19:3585719-3585719 SNS001 Sensorineural Hearing Loss CYTB NC_012920.1:m.15127C>T SNV Uncertain significance 370064 rs1057516074 MT:15127-15127 MT:15127-15127 SNS001 Sensorineural Hearing Loss MYH14 NM_001145809.2(MYH14):c.1945+6G>A SNV Uncertain significance 374064 rs1057518869 19:50756016-50756016 19:50252759-50252759 SNS001 Sensorineural Hearing Loss ESPN NM_031475.3(ESPN):c.910G>T (p.Asp304Tyr) SNV Uncertain significance 694651 1:6501045-6501045 1:6440985-6440985 SNS001 Sensorineural Hearing Loss PDZD7 NM_001195263.2(PDZD7):c.1088G>A (p.Trp363Ter) SNV Uncertain significance 694649 10:102778815-102778815 10:101019058-101019058 SNS001 Sensorineural Hearing Loss PTPRQ NM_001145026.2(PTPRQ):c.6327+1G>A SNV Uncertain significance 694646 12:81062921-81062921 12:80669142-80669142 SNS001 Sensorineural Hearing Loss ESPN NM_031475.3(ESPN):c.2150A>G (p.Asn717Ser) SNV Uncertain significance 523541 rs921702586 1:6511981-6511981 1:6451921-6451921 SNS001 Sensorineural Hearing Loss GSDME NM_001127453.2(GSDME):c.456T>G (p.Asn152Lys) SNV Uncertain significance 523410 rs148449230 7:24758786-24758786 7:24719167-24719167 SNS001 Sensorineural Hearing Loss KIF1A NM_001244008.1(KIF1A):c.3052C>T (p.His1018Tyr) SNV Uncertain significance 598972 rs1356639316 2:241686664-241686664 2:240747247-240747247 SNS001 Sensorineural Hearing Loss GABRA1 NM_001127644.2(GABRA1):c.232G>A (p.Gly78Arg) SNV Uncertain significance 625850 rs1561571575 5:161292771-161292771 5:161865765-161865765 SNS001 Sensorineural Hearing Loss POLG NM_002693.2(POLG):c.3630C>A (p.Tyr1210Ter) SNV Pathogenic 694430 15:89860620-89860620 15:89317389-89317389 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.3570_3573GAAG[1] (p.Lys1191_Glu1192insTer) short repeat Pathogenic 807659 15:89860673-89860676 15:89317442-89317445 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.2515del (p.Ala839fs) deletion Pathogenic 807660 15:89865050-89865050 15:89321819-89321819 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.955A>G (p.Lys319Glu) SNV Pathogenic 4625 rs80356543 10:102748922-102748922 10:100989165-100989165 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) SNV Pathogenic 13496 rs113994095 15:89870432-89870432 15:89327201-89327201 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.1879C>T (p.Arg627Trp) SNV Pathogenic 13499 rs121918046 15:89868751-89868751 15:89325520-89325520 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.2794C>T (p.His932Tyr) SNV Pathogenic 13500 rs121918048 15:89864184-89864184 15:89320953-89320953 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_001126131.2(POLG):c.2542G>A (p.Gly848Ser) SNV Pathogenic 13502 rs113994098 15:89865023-89865023 15:89321792-89321792 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe) SNV Pathogenic 30733 rs387906989 3:64085449-64085449 3:64099773-64099773 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.380del (p.Gly127fs) deletion Pathogenic 209186 rs797045065 3:64145632-64145632 3:64159956-64159956 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.3(POLG):c.3286C>T SNV Pathogenic/Likely pathogenic 206556 rs201732356 15:89861968-89861968 15:89318737-89318737 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) SNV Pathogenic/Likely pathogenic 13513 rs121918054 15:89866691-89866691 15:89323460-89323460 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.911T>G (p.Leu304Arg) SNV Pathogenic/Likely pathogenic 13497 rs121918044 15:89872286-89872286 15:89329055-89329055 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.1362G>T (p.Glu454Asp) SNV Likely pathogenic 807661 15:89870469-89870469 15:89327238-89327238 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.2792T>G (p.Leu931Arg) SNV Likely pathogenic 694424 15:89864186-89864186 15:89320955-89320955 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro) SNV Conflicting interpretations of pathogenicity 632124 rs758026634 10:102749037-102749037 10:100989280-100989280 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.56G>A (p.Gly19Glu) SNV Conflicting interpretations of pathogenicity 426493 rs767175342 10:102748023-102748023 10:100988266-100988266 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His) SNV Conflicting interpretations of pathogenicity 433101 rs202170644 3:64132852-64132852 3:64147176-64147176 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.594C>T (p.Cys198=) SNV Conflicting interpretations of pathogenicity 448123 rs367680077 3:64142844-64142844 3:64157168-64157168 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.2027C>T (p.Ala676Val) SNV Conflicting interpretations of pathogenicity 451086 rs376306906 15:89867381-89867381 15:89324150-89324150 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.1602G>A (p.Thr534=) SNV Conflicting interpretations of pathogenicity 478004 rs144757200 3:64132564-64132564 3:64146888-64146888 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.3667A>G (p.Ile1223Val) SNV Conflicting interpretations of pathogenicity 458718 rs148786642 15:89860035-89860035 15:89316804-89316804 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.1276G>A (p.Gly426Ser) SNV Conflicting interpretations of pathogenicity 458687 rs775576189 15:89870555-89870555 15:89327324-89327324 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.1244-14C>T SNV Conflicting interpretations of pathogenicity 507889 rs758757135 10:102749387-102749387 10:100989630-100989630 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.672T>C (p.Ala224=) SNV Conflicting interpretations of pathogenicity 878844 10:102748639-102748639 10:100988882-100988882 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.1953G>A (p.Lys651=) SNV Conflicting interpretations of pathogenicity 878401 10:102753165-102753165 10:100993408-100993408 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.457G>A (p.Val153Ile) SNV Conflicting interpretations of pathogenicity 242689 rs139747674 3:64142981-64142981 3:64157305-64157305 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_001126131.2(POLG):c.2243G>C (p.Trp748Ser) SNV Conflicting interpretations of pathogenicity 13507 rs113994097 15:89866657-89866657 15:89323426-89323426 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.3151G>C (p.Gly1051Arg) SNV Conflicting interpretations of pathogenicity 13501 rs121918049 15:89862284-89862284 15:89319053-89319053 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) SNV Conflicting interpretations of pathogenicity 65665 rs61752783 15:89870178-89870178 15:89326947-89326947 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.639C>T (p.Gly213=) SNV Conflicting interpretations of pathogenicity 136587 rs11542130 10:102748606-102748606 10:100988849-100988849 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.803G>C (p.Gly268Ala) SNV Conflicting interpretations of pathogenicity 196354 rs61752784 15:89873364-89873364 15:89330133-89330133 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.1174C>G (p.Leu392Val) SNV Conflicting interpretations of pathogenicity 198151 rs145289229 15:89871763-89871763 15:89328532-89328532 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.788-6T>C SNV Conflicting interpretations of pathogenicity 198631 rs180903875 3:64133384-64133384 3:64147708-64147708 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.2191A>G (p.Ser731Gly) SNV Conflicting interpretations of pathogenicity 198931 rs148689951 3:64085071-64085071 3:64099395-64099395 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.1735-14C>A SNV Conflicting interpretations of pathogenicity 136594 rs201795189 10:102752933-102752933 10:100993176-100993176 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.2601T>C (p.Pro867=) SNV Conflicting interpretations of pathogenicity 138750 rs201749977 15:89864489-89864489 15:89321258-89321258 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.3482+6C>T SNV Conflicting interpretations of pathogenicity 138760 rs55779802 15:89861766-89861766 15:89318535-89318535 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.1837C>T (p.His613Tyr) SNV Conflicting interpretations of pathogenicity 193643 rs147407423 15:89868793-89868793 15:89325562-89325562 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.32G>A (p.Gly11Asp) SNV Conflicting interpretations of pathogenicity 195182 rs765472726 15:89876954-89876954 15:89333723-89333723 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) SNV Conflicting interpretations of pathogenicity 214185 rs863223921 10:102749163-102749163 10:100989406-100989406 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg) SNV Conflicting interpretations of pathogenicity 214177 rs116046810 10:102750730-102750730 10:100990973-100990973 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) SNV Conflicting interpretations of pathogenicity 214178 rs370814108 10:102753187-102753187 10:100993430-100993430 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.2045G>A (p.Arg682His) SNV Conflicting interpretations of pathogenicity 214180 rs182559752 10:102753257-102753257 10:100993500-100993500 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.3075G>A (p.Leu1025=) SNV Conflicting interpretations of pathogenicity 239380 rs146404260 15:89862488-89862488 15:89319257-89319257 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.241C>G (p.Leu81Val) SNV Conflicting interpretations of pathogenicity 279715 rs145068570 10:102748208-102748208 10:100988451-100988451 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.384C>T (p.Ser128=) SNV Conflicting interpretations of pathogenicity 281415 rs148234280 10:102748351-102748351 10:100988594-100988594 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.2103G>T (p.Leu701=) SNV Conflicting interpretations of pathogenicity 281799 rs200220646 3:64085159-64085159 3:64099483-64099483 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.2554C>T (p.Arg852Cys) SNV Conflicting interpretations of pathogenicity 206528 rs144500145 15:89865011-89865011 15:89321780-89321780 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.2207A>G (p.Asn736Ser) SNV Conflicting interpretations of pathogenicity 206516 rs138457939 15:89866693-89866693 15:89323462-89323462 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.2021G>A (p.Gly674Asp) SNV Conflicting interpretations of pathogenicity 206462 rs200257554 15:89867387-89867387 15:89324156-89324156 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) SNV Conflicting interpretations of pathogenicity 206596 rs145843073 15:89870429-89870429 15:89327198-89327198 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.690C>T (p.Gly230=) SNV Conflicting interpretations of pathogenicity 346476 rs144338942 3:64138955-64138955 3:64153279-64153279 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.-650A>G SNV Conflicting interpretations of pathogenicity 298484 rs187213541 10:102747318-102747318 10:100987561-100987561 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.1156C>T (p.Arg386Cys) SNV Conflicting interpretations of pathogenicity 206589 rs199759055 15:89871930-89871930 15:89328699-89328699 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.328C>T (p.His110Tyr) SNV Conflicting interpretations of pathogenicity 206619 rs139599587 15:89876658-89876658 15:89333427-89333427 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg) SNV Conflicting interpretations of pathogenicity 298500 rs62626271 10:102749009-102749009 10:100989252-100989252 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.1488T>C (p.Thr496=) SNV Conflicting interpretations of pathogenicity 298502 rs549767223 10:102750196-102750196 10:100990439-100990439 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.-290G>C SNV Conflicting interpretations of pathogenicity 298491 rs62626270 10:102747678-102747678 10:100987921-100987921 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.*301C>T SNV Conflicting interpretations of pathogenicity 298507 rs41291468 10:102753568-102753568 10:100993811-100993811 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.76G>A (p.Gly26Ser) SNV Conflicting interpretations of pathogenicity 298494 rs577209883 10:102748043-102748043 10:100988286-100988286 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.492C>T (p.Leu164=) SNV Conflicting interpretations of pathogenicity 298498 rs775463083 10:102748459-102748459 10:100988702-100988702 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.922T>C (p.Leu308=) SNV Conflicting interpretations of pathogenicity 298499 rs754389465 10:102748889-102748889 10:100989132-100989132 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.1101C>T (p.Ile367=) SNV Conflicting interpretations of pathogenicity 298501 rs200798080 10:102749068-102749068 10:100989311-100989311 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.*419A>T SNV Conflicting interpretations of pathogenicity 298509 rs187553791 10:102753686-102753686 10:100993929-100993929 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.1609T>C (p.Tyr537His) SNV Conflicting interpretations of pathogenicity 383137 rs144001072 10:102750642-102750642 10:100990885-100990885 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.3204C>G (p.Asp1068Glu) SNV Uncertain significance 388649 rs1057523186 15:89862231-89862231 15:89319000-89319000 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.-644A>T SNV Uncertain significance 298485 rs886046623 10:102747324-102747324 10:100987567-100987567 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu) SNV Uncertain significance 298504 rs886046632 10:102753065-102753065 10:100993308-100993308 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.*574C>T SNV Uncertain significance 298515 rs886046636 10:102753841-102753841 10:100994084-100994084 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.*619G>A SNV Uncertain significance 298516 rs886046637 10:102753886-102753886 10:100994129-100994129 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.*709C>G SNV Uncertain significance 298517 rs41291470 10:102753976-102753976 10:100994219-100994219 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.*747C>G SNV Uncertain significance 298518 rs886046638 10:102754014-102754014 10:100994257-100994257 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.*763T>C SNV Uncertain significance 298519 rs886046639 10:102754030-102754030 10:100994273-100994273 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.-585T>G SNV Uncertain significance 298486 rs886046624 10:102747383-102747383 10:100987626-100987626 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.77G>T (p.Gly26Val) SNV Uncertain significance 298495 rs772221026 10:102748044-102748044 10:100988287-100988287 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.*555G>A SNV Uncertain significance 298514 rs886046635 10:102753822-102753822 10:100994065-100994065 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.*438G>C SNV Uncertain significance 298510 rs886046634 10:102753705-102753705 10:100993948-100993948 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.-549G>A SNV Uncertain significance 298487 rs886046625 10:102747419-102747419 10:100987662-100987662 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.-470G>A SNV Uncertain significance 298488 rs886046626 10:102747498-102747498 10:100987741-100987741 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.*234T>G SNV Uncertain significance 298506 rs886046633 10:102753501-102753501 10:100993744-100993744 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.*367A>G SNV Uncertain significance 298508 rs62626296 10:102753634-102753634 10:100993877-100993877 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.276C>T (p.Gly92=) SNV Uncertain significance 298497 rs886046631 10:102748243-102748243 10:100988486-100988486 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.862C>T (p.Arg288Cys) SNV Uncertain significance 206586 rs564582352 15:89872335-89872335 15:89329104-89329104 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.-423C>T SNV Uncertain significance 298489 rs886046627 10:102747545-102747545 10:100987788-100987788 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.1328G>A (p.Arg443His) SNV Uncertain significance 206593 rs796052903 15:89870503-89870503 15:89327272-89327272 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.1570C>G (p.Pro524Ala) SNV Uncertain significance 206631 rs577476988 15:89870158-89870158 15:89326927-89326927 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.2085T>G (p.Asp695Glu) SNV Uncertain significance 206509 rs776848222 15:89867118-89867118 15:89323887-89323887 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.2059A>G (p.Ile687Val) SNV Uncertain significance 206508 rs796052881 15:89867349-89867349 15:89324118-89324118 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.3176A>G (p.Asn1059Ser) SNV Uncertain significance 195487 rs201192905 15:89862259-89862259 15:89319028-89319028 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.3425G>A (p.Arg1142Gln) SNV Uncertain significance 195591 rs536732038 15:89861829-89861829 15:89318598-89318598 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis FANCI NM_002693.2(POLG):c.3650C>T (p.Ala1217Val) SNV Uncertain significance 206575 rs199751339 15:89860052-89860052 15:89316821-89316821 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.3650C>T (p.Ala1217Val) SNV Uncertain significance 206575 rs199751339 15:89860052-89860052 15:89316821-89316821 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.3505G>A (p.Gly1169Ser) SNV Uncertain significance 206568 rs753864625 15:89860745-89860745 15:89317514-89317514 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.3323A>T (p.Tyr1108Phe) SNV Uncertain significance 206475 rs765949668 15:89861931-89861931 15:89318700-89318700 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.3098C>T (p.Ala1033Val) SNV Uncertain significance 206470 rs551708243 15:89862465-89862465 15:89319234-89319234 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.3076C>T (p.Arg1026Cys) SNV Uncertain significance 206546 rs760043525 15:89862487-89862487 15:89319256-89319256 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.3131T>C (p.Val1044Ala) SNV Uncertain significance 129994 rs150233690 15:89862304-89862304 15:89319073-89319073 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_001126131.2(POLG):c.1491G>C (p.Gln497His) SNV Uncertain significance 13510 rs121918052 15:89870237-89870237 15:89327006-89327006 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.*248G>A SNV Uncertain significance 877431 10:102753515-102753515 10:100993758-100993758 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.*341G>A SNV Uncertain significance 878455 10:102753608-102753608 10:100993851-100993851 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.*346A>C SNV Uncertain significance 878456 10:102753613-102753613 10:100993856-100993856 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.*453G>A SNV Uncertain significance 880257 10:102753720-102753720 10:100993963-100993963 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.*552G>C SNV Uncertain significance 878511 10:102753819-102753819 10:100994062-100994062 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.*561C>T SNV Uncertain significance 879092 10:102753828-102753828 10:100994071-100994071 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.*769G>A SNV Uncertain significance 878551 10:102754036-102754036 10:100994279-100994279 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.913G>A (p.Val305Ile) SNV Uncertain significance 880052 10:102748880-102748880 10:100989123-100989123 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.1572C>T (p.His524=) SNV Uncertain significance 877318 10:102750280-102750280 10:100990523-100990523 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr) SNV Uncertain significance 878940 10:102750630-102750630 10:100990873-100990873 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu) SNV Uncertain significance 877377 10:102753038-102753038 10:100993281-100993281 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr) SNV Uncertain significance 878400 10:102753118-102753118 10:100993361-100993361 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.3317T>C (p.Val1106Ala) SNV Uncertain significance 522129 rs1354582663 15:89861937-89861937 15:89318706-89318706 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.400G>A (p.Gly134Arg) SNV Uncertain significance 544245 rs775889804 3:64143038-64143038 3:64157362-64157362 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.545A>T (p.Tyr182Phe) SNV Uncertain significance 544246 rs1553644782 3:64142893-64142893 3:64157217-64157217 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.1994T>C (p.Met665Thr) SNV Uncertain significance 544243 rs200223474 3:64085268-64085268 3:64099592-64099592 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.581G>A (p.Arg194His) SNV Uncertain significance 544244 rs1553644768 3:64142857-64142857 3:64157181-64157181 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.1318G>A (p.Glu440Lys) SNV Uncertain significance 577360 rs780771241 3:64132848-64132848 3:64147172-64147172 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.2433C>G (p.His811Gln) SNV Uncertain significance 578987 rs113542442 3:64084829-64084829 3:64099153-64099153 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.1573A>G (p.Ser525Gly) SNV Uncertain significance 581183 rs755802840 3:64132593-64132593 3:64146917-64146917 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.741C>G (p.Phe247Leu) SNV Uncertain significance 576820 rs763876127 3:64138904-64138904 3:64153228-64153228 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.1528G>A (p.Glu510Lys) SNV Uncertain significance 577516 rs777124617 3:64132638-64132638 3:64146962-64146962 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.1132A>G (p.Met378Val) SNV Uncertain significance 576573 rs751445312 3:64133034-64133034 3:64147358-64147358 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.1561C>T (p.Arg521Cys) SNV Uncertain significance 579483 rs749232741 3:64132605-64132605 3:64146929-64146929 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.215G>A (p.Arg72Gln) SNV Uncertain significance 572356 rs1559550002 3:64148735-64148735 3:64163059-64163059 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.2069C>T (p.Thr690Met) SNV Uncertain significance 579888 rs201677865 15:89867339-89867339 15:89324108-89324108 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.260T>C (p.Ile87Thr) SNV Uncertain significance 585152 rs776347449 15:89876726-89876726 15:89333495-89333495 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.2466C>G (p.Pro822=) SNV Uncertain significance 625997 rs1235161601 15:89865207-89865207 15:89321976-89321976 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.1882C>T (p.Arg628Trp) SNV Uncertain significance 458698 rs754245040 15:89868748-89868748 15:89325517-89325517 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.1169G>A (p.Arg390Gln) SNV Uncertain significance 478002 rs773493989 3:64132997-64132997 3:64147321-64147321 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.454G>A (p.Gly152Ser) SNV Uncertain significance 478007 rs199566606 3:64142984-64142984 3:64157308-64157308 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.2455C>T (p.Pro819Ser) SNV Uncertain significance 478005 rs972442832 3:64084807-64084807 3:64099131-64099131 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.729C>A (p.Asp243Glu) SNV Uncertain significance 452496 rs757917194 15:89873438-89873438 15:89330207-89330207 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.670G>A (p.Glu224Lys) SNV Uncertain significance 478011 rs1199006668 3:64138975-64138975 3:64153299-64153299 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.481G>A (p.Val161Ile) SNV Uncertain significance 478010 rs773419206 3:64142957-64142957 3:64157281-64157281 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.461G>T (p.Cys154Phe) SNV Uncertain significance 478008 rs1553644844 3:64142977-64142977 3:64157301-64157301 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.445G>T (p.Ala149Ser) SNV Uncertain significance 448122 rs202025796 3:64142993-64142993 3:64157317-64157317 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.2(POLG):c.2468G>A (p.Arg823His) SNV Uncertain significance 448102 rs751172552 15:89865205-89865205 15:89321974-89321974 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.680C>T (p.Thr227Ile) SNV Uncertain significance 652551 3:64138965-64138965 3:64153289-64153289 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.527A>G (p.Tyr176Cys) SNV Uncertain significance 651863 3:64142911-64142911 3:64157235-64157235 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.2030A>G (p.Asp677Gly) SNV Uncertain significance 646705 3:64085232-64085232 3:64099556-64099556 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.1532G>C (p.Gly511Ala) SNV Uncertain significance 664293 3:64132634-64132634 3:64146958-64146958 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.1532G>A (p.Gly511Glu) SNV Uncertain significance 663909 3:64132634-64132634 3:64146958-64146958 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.1184G>A (p.Arg395Lys) SNV Uncertain significance 652129 3:64132982-64132982 3:64147306-64147306 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.1091G>A (p.Arg364Gln) SNV Uncertain significance 645682 3:64133075-64133075 3:64147399-64147399 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.973G>A (p.Ala325Thr) SNV Uncertain significance 641433 3:64133193-64133193 3:64147517-64147517 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.423C>A (p.Asp141Glu) SNV Uncertain significance 642086 3:64143015-64143015 3:64157339-64157339 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.396G>T (p.Gln132His) SNV Uncertain significance 657103 3:64145616-64145616 3:64159940-64159940 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.343C>T (p.Arg115Cys) SNV Uncertain significance 645455 3:64145669-64145669 3:64159993-64159993 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.1942G>C (p.Gly648Arg) SNV Uncertain significance 844586 3:64085320-64085320 3:64099644-64099644 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.1876A>C (p.Asn626His) SNV Uncertain significance 849852 3:64085386-64085386 3:64099710-64099710 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.1861C>T (p.Leu621Phe) SNV Uncertain significance 862865 3:64085401-64085401 3:64099725-64099725 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.1837C>A (p.Gln613Lys) SNV Uncertain significance 847838 3:64085425-64085425 3:64099749-64099749 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.1667C>A (p.Ser556Tyr) SNV Uncertain significance 843812 3:64085595-64085595 3:64099919-64099919 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.1639C>A (p.Leu547Met) SNV Uncertain significance 857711 3:64132527-64132527 3:64146851-64146851 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.1535G>A (p.Gly512Asp) SNV Uncertain significance 864114 3:64132631-64132631 3:64146955-64146955 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.1514_1519AGGAAG[2] (p.Glu509_Glu510del) short repeat Uncertain significance 854711 3:64132635-64132640 3:64146959-64146964 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.1457T>C (p.Met486Thr) SNV Uncertain significance 861941 3:64132709-64132709 3:64147033-64147033 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.1371G>A (p.Met457Ile) SNV Uncertain significance 852576 3:64132795-64132795 3:64147119-64147119 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.1175C>A (p.Pro392His) SNV Uncertain significance 853962 3:64132991-64132991 3:64147315-64147315 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.649A>G (p.Met217Val) SNV Uncertain significance 858531 3:64138996-64138996 3:64153320-64153320 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.437C>T (p.Ala146Val) SNV Uncertain significance 836728 3:64143001-64143001 3:64157325-64157325 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.427G>A (p.Ala143Thr) SNV Uncertain significance 846062 3:64143011-64143011 3:64157335-64157335 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.328C>T (p.Arg110Cys) SNV Uncertain significance 838636 3:64145684-64145684 3:64160008-64160008 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.308T>C (p.Leu103Pro) SNV Uncertain significance 855067 3:64145704-64145704 3:64160028-64160028 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.-622C>T SNV Uncertain significance 877083 10:102747346-102747346 10:100987589-100987589 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.-592C>T SNV Uncertain significance 878124 10:102747376-102747376 10:100987619-100987619 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.-584G>C SNV Uncertain significance 879588 10:102747384-102747384 10:100987627-100987627 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.-418C>T SNV Uncertain significance 877145 10:102747550-102747550 10:100987793-100987793 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.-304G>A SNV Uncertain significance 877146 10:102747664-102747664 10:100987907-100987907 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.596G>A (p.Arg199Gln) SNV Uncertain significance 878242 10:102748563-102748563 10:100988806-100988806 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.972C>T (p.Ser324=) SNV Likely benign 707149 3:64133194-64133194 3:64147518-64147518 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.1425G>A (p.Gly475=) SNV Likely benign 720110 3:64132741-64132741 3:64147065-64147065 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.2037C>T (p.Asn679=) SNV Likely benign 725213 3:64085225-64085225 3:64099549-64099549 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.732C>T (p.Cys244=) SNV Likely benign 724725 3:64138913-64138913 3:64153237-64153237 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.1593G>A (p.Glu531=) SNV Likely benign 478003 rs1337013281 3:64132573-64132573 3:64146897-64146897 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.471G>A (p.Pro157=) SNV Likely benign 478009 rs777067889 3:64142967-64142967 3:64157291-64157291 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.397-8C>T SNV Likely benign 544248 rs762192312 3:64143049-64143049 3:64157373-64157373 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.72G>A (p.Ser24=) SNV Likely benign 544247 rs888655219 3:64184532-64184532 3:64198856-64198856 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.2220C>T (p.Ser740=) SNV Likely benign 544249 rs867670809 3:64085042-64085042 3:64099366-64099366 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.1311C>G (p.Ala437=) SNV Likely benign 544250 rs140374952 3:64132855-64132855 3:64147179-64147179 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.1803C>T (p.Ser601=) SNV Likely benign 753170 3:64085459-64085459 3:64099783-64099783 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.360T>A (p.Pro120=) SNV Likely benign 759220 3:64145652-64145652 3:64159976-64159976 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.2479A>C (p.Arg827=) SNV Likely benign 798030 3:64084783-64084783 3:64099107-64099107 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.1172G>A (p.Arg391His) SNV Likely benign 162048 rs556445621 10:102749139-102749139 10:100989382-100989382 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.-241C>T SNV Likely benign 298492 rs113159821 10:102747727-102747727 10:100987970-100987970 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.1527C>T (p.Asp509=) SNV Benign/Likely benign 298503 rs62626272 10:102750235-102750235 10:100990478-100990478 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.*455C>T SNV Benign/Likely benign 298511 rs148810959 10:102753722-102753722 10:100993965-100993965 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.444C>T (p.Arg148=) SNV Benign/Likely benign 197904 rs146538069 3:64142994-64142994 3:64157318-64157318 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis FANCI NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) SNV Benign/Likely benign 21312 rs2307441 15:89861826-89861826 15:89318595-89318595 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis POLG NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) SNV Benign/Likely benign 21312 rs2307441 15:89861826-89861826 15:89318595-89318595 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.438G>A (p.Ala146=) SNV Benign/Likely benign 478006 rs149786687 3:64143000-64143000 3:64157324-64157324 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.1527G>A (p.Glu509=) SNV Benign/Likely benign 448121 rs144455095 3:64132639-64132639 3:64146963-64146963 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.6G>A (p.Val2=) SNV Benign 750610 3:64184598-64184598 3:64198922-64198922 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.267T>C (p.Tyr89=) SNV Benign 779551 3:64145745-64145745 3:64160069-64160069 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.144+10T>C SNV Benign 130031 rs74535153 3:64184450-64184450 3:64198774-64198774 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.1551G>A (p.Gln517=) SNV Benign 130032 rs116353694 3:64132615-64132615 3:64146939-64146939 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=) SNV Benign 130137 rs27673 3:64133350-64133350 3:64147674-64147674 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.1102G>A (p.Val368Ile) SNV Benign 136588 rs17113613 10:102749069-102749069 10:100989312-100989312 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.1593-5C>T SNV Benign 136589 rs3740485 10:102750621-102750621 10:100990864-100990864 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.1593-3T>C SNV Benign 136590 rs3740486 10:102750623-102750623 10:100990866-100990866 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.-605G>T SNV Benign 136593 rs3740484 10:102747363-102747363 10:100987606-100987606 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.145-4T>G SNV Benign 767014 3:64148809-64148809 3:64163133-64163133 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.1035C>G (p.Gly345=) SNV Benign 287547 rs34084584 3:64133131-64133131 3:64147455-64147455 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.*766A>T SNV Benign 298520 rs3740488 10:102754033-102754033 10:100994276-100994276 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.*204G>A SNV Benign 298505 rs61871507 10:102753471-102753471 10:100993714-100993714 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis TWNK NM_021830.5(TWNK):c.*521C>G SNV Benign 298513 rs11542131 10:102753788-102753788 10:100994031-100994031 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis PRICKLE2 NM_198859.4(PRICKLE2):c.443G>A (p.Arg148His) SNV no interpretation for the single variant 242690 rs387906988 3:64142995-64142995 3:64157319-64157319 SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis HESX1 NM_003865.3(HESX1):c.313T>G (p.Trp105Gly) SNV Pathogenic 492850 rs754137696 3:57232825-57232825 3:57198797-57198797 SPT006 Septooptic Dysplasia HESX1 NM_003865.3(HESX1):c.240del (p.Glu81fs) deletion Pathogenic 492848 rs777833871 3:57232898-57232898 3:57198870-57198870 SPT006 Septooptic Dysplasia HESX1 NM_003865.3(HESX1):c.301_302AG[4] (p.Leu103fs) short repeat Pathogenic 7694 3:57232831-57232832 3:57198803-57198804 SPT006 Septooptic Dysplasia HESX1 NM_003865.3(HESX1):c.77T>C (p.Ile26Thr) SNV Pathogenic 7695 rs28936416 3:57233870-57233870 3:57199842-57199842 SPT006 Septooptic Dysplasia HESX1 HESX1, 1-BP DEL, 1684G deletion Pathogenic 7696 SPT006 Septooptic Dysplasia HESX1 NM_003865.3(HESX1):c.450_451del (p.Asp150fs) deletion Pathogenic 7697 rs587776664 3:57232427-57232428 3:57198399-57198400 SPT006 Septooptic Dysplasia HESX1 NM_003865.3(HESX1):c.357+2T>C SNV Pathogenic 7698 rs575112817 3:57232779-57232779 3:57198751-57198751 SPT006 Septooptic Dysplasia HESX1 NM_003865.3(HESX1):c.445G>A (p.Glu149Lys) SNV Pathogenic 7699 rs104893742 3:57232433-57232433 3:57198405-57198405 SPT006 Septooptic Dysplasia HESX1 NM_003865.3(HESX1):c.18G>C (p.Gln6His) SNV Pathogenic 7700 rs121909173 3:57233929-57233929 3:57199901-57199901 SPT006 Septooptic Dysplasia HESX1 NM_003865.3(HESX1):c.478C>T (p.Arg160Cys) SNV Pathogenic 7691 rs28936702 3:57232305-57232305 3:57198277-57198277 SPT006 Septooptic Dysplasia RALGAPB NM_020336.4(RALGAPB):c.2324G>T (p.Arg775Leu) SNV Likely pathogenic 370037 rs758022116 20:37163795-37163795 20:38535152-38535152 SPT006 Septooptic Dysplasia HESX1 NM_003865.3(HESX1):c.308T>A (p.Leu103Ter) SNV Likely pathogenic 492849 rs777223697 3:57232830-57232830 3:57198802-57198802 SPT006 Septooptic Dysplasia HESX1 NM_003865.3(HESX1):c.158-1G>C SNV Likely pathogenic 537760 rs1238248024 3:57232981-57232981 3:57198953-57198953 SPT006 Septooptic Dysplasia HESX1 NM_003865.3(HESX1):c.183T>C (p.His61=) SNV Conflicting interpretations of pathogenicity 779725 3:57232955-57232955 3:57198927-57198927 SPT006 Septooptic Dysplasia HESX1 NM_003865.3(HESX1):c.525G>A (p.Ala175=) SNV Conflicting interpretations of pathogenicity 197222 rs141063672 3:57232258-57232258 3:57198230-57198230 SPT006 Septooptic Dysplasia HESX1 NM_003865.3(HESX1):c.385G>A (p.Val129Ile) SNV Conflicting interpretations of pathogenicity 267733 rs143057250 3:57232493-57232493 3:57198465-57198465 SPT006 Septooptic Dysplasia HESX1 NM_001376058.1(HESX1):c.-110-166T>G SNV Conflicting interpretations of pathogenicity 346289 rs983243 3:57234222-57234222 3:57200194-57200194 SPT006 Septooptic Dysplasia HESX1 NM_003865.3(HESX1):c.541A>G (p.Thr181Ala) SNV Uncertain significance 7693 rs28936704 3:57232242-57232242 3:57198214-57198214 SPT006 Septooptic Dysplasia HESX1 NM_003865.3(HESX1):c.*48G>A SNV Uncertain significance 901509 3:57232177-57232177 3:57198149-57198149 SPT006 Septooptic Dysplasia HESX1 NM_003865.3(HESX1):c.-6G>A SNV Uncertain significance 902082 3:57233952-57233952 3:57199924-57199924 SPT006 Septooptic Dysplasia HESX1 NM_003865.3(HESX1):c.*192T>A SNV Uncertain significance 346284 rs886058753 3:57232033-57232033 3:57198005-57198005 SPT006 Septooptic Dysplasia HESX1 NM_003865.3(HESX1):c.220G>A (p.Val74Met) SNV Uncertain significance 346285 rs148422263 3:57232918-57232918 3:57198890-57198890 SPT006 Septooptic Dysplasia HESX1 NM_001376058.1(HESX1):c.-110-91_-110-88del deletion Uncertain significance 346286 rs886058754 3:57234144-57234147 3:57200116-57200119 SPT006 Septooptic Dysplasia HESX1 NM_001376058.1(HESX1):c.-110-120T>A SNV Uncertain significance 346287 rs549564119 3:57234176-57234176 3:57200148-57200148 SPT006 Septooptic Dysplasia HESX1 NM_001376058.1(HESX1):c.-110-135del deletion Uncertain significance 346288 rs886058755 3:57234191-57234191 3:57200163-57200163 SPT006 Septooptic Dysplasia HESX1 NM_003865.3(HESX1):c.200G>A (p.Ser67Asn) SNV Uncertain significance 492847 rs141863326 3:57232938-57232938 3:57198910-57198910 SPT006 Septooptic Dysplasia HESX1 NM_003865.3(HESX1):c.460-7A>G SNV Likely benign 801979 3:57232330-57232330 3:57198302-57198302 SPT006 Septooptic Dysplasia HESX1 NM_003865.3(HESX1):c.90C>T (p.Asp30=) SNV Benign/Likely benign 597755 rs115448575 3:57233857-57233857 3:57199829-57199829 SPT006 Septooptic Dysplasia HESX1 NM_003865.3(HESX1):c.374A>G (p.Asn125Ser) SNV Benign/Likely benign 282975 rs9878928 3:57232504-57232504 3:57198476-57198476 SPT006 Septooptic Dysplasia SPAST NM_014946.3(SPAST):c.1495C>T (p.Arg499Cys) SNV Pathogenic 5660 rs121908511 2:32366974-32366974 2:32141905-32141905 SPS019 Spastic Paraparesis PSEN1 NM_000021.4(PSEN1):c.811C>G (p.Leu271Val) SNV Pathogenic 18148 rs63750886 14:73664780-73664780 14:73198072-73198072 SPS019 Spastic Paraparesis SPG7 NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) deletion Pathogenic/Likely pathogenic 411680 rs768823392 16:89613065-89613073 16:89546657-89546665 SPS019 Spastic Paraparesis AAAS NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) SNV Pathogenic/Likely pathogenic 5045 rs121918550 12:53703408-53703408 12:53309624-53309624 SPS019 Spastic Paraparesis SPAST NM_014946.3(SPAST):c.1670C>G (p.Ala557Gly) SNV Likely pathogenic 374070 rs1057518873 2:32370059-32370059 2:32144990-32144990 SPS019 Spastic Paraparesis SPG11 NM_025137.4(SPG11):c.3785G>T (p.Gly1262Val) SNV Likely pathogenic 374071 rs1057518874 15:44890936-44890936 15:44598738-44598738 SPS019 Spastic Paraparesis SPG11 NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) SNV Conflicting interpretations of pathogenicity 374112 rs201689565 15:44876497-44876497 15:44584299-44584299 SPS019 Spastic Paraparesis SPG7 NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) SNV Conflicting interpretations of pathogenicity 42016 rs61755320 16:89613145-89613145 16:89546737-89546737 SPS019 Spastic Paraparesis CERT1 NM_001130105.1(CERT1):c.223_233del (p.Arg75fs) deletion Uncertain significance 689370 5:74807184-74807194 5:75511359-75511369 SPS019 Spastic Paraparesis CACNA1A NM_023035.3(CACNA1A):c.574C>T (p.Arg192Trp) SNV Uncertain significance 373933 rs1057518779 19:13482559-13482559 19:13371745-13371745 SPS019 Spastic Paraparesis SNX14 NM_153816.6(SNX14):c.1608+1G>T SNV Pathogenic 802248 6:86246509-86246509 6:85536791-85536791 SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 SNX14 NM_153816.6(SNX14):c.2596C>T (p.Gln866Ter) SNV Pathogenic 190314 rs876657385 6:86223575-86223575 6:85513857-85513857 SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 SNX14 NM_153816.2(SNX14):c.1108+1181_2108-2342del deletion Pathogenic 190315 SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 SNX14 NM_153816.6(SNX14):c.645dup (p.Glu216fs) duplication Pathogenic 190316 rs869320748 6:86259586-86259587 6:85549868-85549869 SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 SNX14 NM_153816.6(SNX14):c.1894+1G>T SNV Pathogenic 190317 rs876657386 6:86239909-86239909 6:85530191-85530191 SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 SNX14 NM_153816.6(SNX14):c.1132C>T (p.Arg378Ter) SNV Pathogenic 190318 rs786205229 6:86253455-86253455 6:85543737-85543737 SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 SNX14 NM_153816.6(SNX14):c.428T>A (p.Leu143Ter) SNV Pathogenic 190319 rs876657387 6:86277285-86277285 6:85567567-85567567 SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 SNX14 NM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer) deletion Pathogenic 190320 rs774694340 6:86217761-86217761 6:85508043-85508043 SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 SNX14 NM_153816.6(SNX14):c.1108G>A (p.Glu370Lys) SNV Pathogenic 268133 rs201128942 6:86256830-86256830 6:85547112-85547112 SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 SNX14 NM_153816.6(SNX14):c.331C>T (p.Arg111Ter) SNV Pathogenic 522726 rs760752847 6:86282023-86282023 6:85572305-85572305 SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 SNX14 NM_153816.6(SNX14):c.1707_1708insTTTTTTTTTTT (p.Pro570fs) insertion Pathogenic 375550 rs1057519561 6:86243419-86243420 6:85533701-85533702 SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 SNX14 NM_153816.6(SNX14):c.1725del (p.Phe575fs) deletion Likely pathogenic 800777 6:86243402-86243402 6:85533684-85533684 SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 SNX14 NM_153816.6(SNX14):c.303T>A (p.Cys101Ter) SNV Likely pathogenic 635072 rs1562374476 6:86282051-86282051 6:85572333-85572333 SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 SNX14 NM_153816.6(SNX14):c.1809A>G (p.Ala603=) SNV Uncertain significance 800741 6:86243318-86243318 6:85533600-85533600 SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 SNX14 NM_153816.6(SNX14):c.2447G>A (p.Arg816Gln) SNV Uncertain significance 548562 rs936843937 6:86223898-86223898 6:85514180-85514180 SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 CYTB NC_012920.1:m.14771C>A SNV Uncertain significance 374216 rs1556424489 MT:14771-14771 MT:14771-14771 SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 NUP62 NM_016553.5(NUP62):c.1172A>C (p.Gln391Pro) SNV Pathogenic 4752 rs121917865 19:50411893-50411893 19:49908636-49908636 STR085 Striatonigral Degeneration, Infantile NUP62 NM_016553.5(NUP62):c.548C>T (p.Thr183Met) SNV Uncertain significance 800771 19:50412517-50412517 19:49909260-49909260 STR085 Striatonigral Degeneration, Infantile ATP6 NC_012920.1:m.9176T>C SNV Pathogenic 9644 rs199476135 MT:9176-9176 MT:9176-9176 STR099 Striatonigral Degeneration, Infantile, Mitochondrial ATP6 NC_012920.1:m.8851T>C SNV Likely pathogenic 9645 rs199476136 MT:8851-8851 MT:8851-8851 STR099 Striatonigral Degeneration, Infantile, Mitochondrial ACSL4 GRCh37/hg19 Xq23(chrX:108919564-108929311) copy number loss Pathogenic 548953 X:108915663-108933582 STR067 Stroke, Ischemic NOTCH3 NM_000435.3(NOTCH3):c.227G>A (p.Cys76Tyr) SNV Pathogenic 585600 rs1568362252 19:15303301-15303301 19:15192490-15192490 STR067 Stroke, Ischemic NOTCH3 NM_000435.3(NOTCH3):c.634T>C (p.Cys212Arg) SNV Pathogenic 812745 19:15302816-15302816 19:15192005-15192005 STR067 Stroke, Ischemic NOTCH3 NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) SNV Pathogenic 9219 rs28933696 19:15302945-15302945 19:15192134-15192134 STR067 Stroke, Ischemic TRNL1 NC_012920.1:m.3243A>G SNV Pathogenic 9589 rs199474657 MT:3243-3243 MT:3243-3243 STR067 Stroke, Ischemic PIK3CA NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) SNV Pathogenic 13653 rs121913279 3:178952085-178952085 3:179234297-179234297 STR067 Stroke, Ischemic FBN1 NM_000138.5(FBN1):c.5788+5G>A SNV Pathogenic 42394 rs193922219 15:48738898-48738898 15:48446701-48446701 STR067 Stroke, Ischemic NOTCH3 NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys) SNV Pathogenic 208501 rs797045014 19:15302993-15302993 19:15192182-15192182 STR067 Stroke, Ischemic LDLR NM_000527.5(LDLR):c.682G>A (p.Glu228Lys) SNV Pathogenic/Likely pathogenic 3691 rs121908029 19:11216264-11216264 19:11105588-11105588 STR067 Stroke, Ischemic PRKCH NM_006255.4(PRKCH):c.1120G>A (p.Val374Ile) SNV risk factor 4991 rs2230500 14:61924239-61924239 14:61457521-61457521 STR067 Stroke, Ischemic F2 NM_000506.5(F2):c.*97G>A SNV risk factor 13310 rs1799963 11:46761055-46761055 11:46739505-46739505 STR067 Stroke, Ischemic ACE NM_000789.3(ACE):c.2306-117_2306-116insAF118569.1:g.14094_14382 insertion risk factor 18061 17:61565892-61565893 17:63488531-63488532 STR067 Stroke, Ischemic F5 NM_000130.4(F5):c.1601G>A (p.Arg534Gln) SNV risk factor 642 rs6025 1:169519049-169519049 1:169549811-169549811 STR067 Stroke, Ischemic NOTCH3 NM_000435.3(NOTCH3):c.1136G>C (p.Cys379Ser) SNV Likely pathogenic 812744 19:15300140-15300140 19:15189329-15189329 STR067 Stroke, Ischemic PRKAG2 NM_016203.4(PRKAG2):c.590C>G (p.Pro197Arg) SNV Uncertain significance 374128 rs368637364 7:151372600-151372600 7:151675514-151675514 STR067 Stroke, Ischemic CYTB NC_012920.1:m.15446C>T SNV Uncertain significance 373995 rs1057518823 MT:15446-15446 MT:15446-15446 STR067 Stroke, Ischemic F5 NM_000130.4(F5):c.5265A>G (p.Ile1755Met) SNV Uncertain significance 579171 rs41272455 1:169499000-169499000 1:169529762-169529762 STR067 Stroke, Ischemic MYLK NM_053025.4(MYLK):c.2149G>A (p.Asp717Asn) SNV Uncertain significance 519975 rs150936840 3:123426842-123426842 3:123707995-123707995 STR067 Stroke, Ischemic RNF213 NM_001256071.3(RNF213):c.11659A>G (p.Lys3887Glu) SNV Uncertain significance 523426 rs1555673862 17:78337499-78337499 17:80363699-80363699 STR067 Stroke, Ischemic ND4 NC_012920.1:m.12015T>C SNV Likely benign 805948 MT:12015-12015 MT:12015-12015 STR067 Stroke, Ischemic COX2 NC_012920.1:m.8084A>G SNV Likely benign 373996 rs1057518824 MT:8084-8084 MT:8084-8084 STR067 Stroke, Ischemic GRN NM_002087.4(GRN):c.*78C>T SNV Benign 29742 rs5848 17:42430244-42430244 17:44352876-44352876 STR067 Stroke, Ischemic NOS3 NM_000603.5(NOS3):c.894T>G (p.Asp298Glu) SNV Benign 14015 rs1799983 7:150696111-150696111 7:150999023-150999023 STR067 Stroke, Ischemic AP4E1 NM_007347.5(AP4E1):c.2232_2233TA[3] (p.Thr746Ter) short repeat Likely pathogenic 548459 rs1555462184 15:51285707-51285708 15:50993510-50993511 STT041 Stuttering AP4E1 NM_007347.5(AP4E1):c.613C>A (p.His205Asn) SNV Uncertain significance 128402 rs148499164 15:51221276-51221276 15:50929079-50929079 STT041 Stuttering AP4E1 NM_007347.5(AP4E1):c.2149C>T (p.Pro717Ser) SNV Uncertain significance 458249 rs150743968 15:51285625-51285625 15:50993428-50993428 STT041 Stuttering AP4E1 NM_007347.5(AP4E1):c.2401G>A (p.Glu801Lys) SNV no interpretation for the single variant 242436 rs556450190 15:51289577-51289577 15:50997380-50997380 STT041 Stuttering AP4E1 NM_007347.5(AP4E1):c.1549G>A (p.Val517Ile) SNV no interpretation for the single variant 242435 rs760021635 15:51250689-51250689 15:50958492-50958492 STT041 Stuttering SCN5A NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) SNV Pathogenic 39444 rs45546039 3:38655272-38655272 3:38613781-38613781 SDD001 Sudden Infant Death Syndrome SCN5A NM_198056.2(SCN5A):c.1099C>T (p.Arg367Cys) SNV Pathogenic/Likely pathogenic 67633 rs199473097 3:38648201-38648201 3:38606710-38606710 SDD001 Sudden Infant Death Syndrome SCN5A NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) SNV risk factor 9393 rs7626962 3:38620907-38620907 3:38579416-38579416 SDD001 Sudden Infant Death Syndrome SCN5A NM_198056.2(SCN5A):c.5795C>T (p.Ala1932Val) SNV Conflicting interpretations of pathogenicity 582721 rs371194826 3:38592068-38592068 3:38550577-38550577 SDD001 Sudden Infant Death Syndrome GPD1L NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) SNV Conflicting interpretations of pathogenicity 788 rs72552293 3:32181723-32181723 3:32140231-32140231 SDD001 Sudden Infant Death Syndrome KCNQ1 NM_181798.1(KCNQ1):c.754T>C (p.Trp252Arg) SNV Conflicting interpretations of pathogenicity 67013 rs199472768 11:2608806-2608806 11:2587576-2587576 SDD001 Sudden Infant Death Syndrome KCNQ1 NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val) SNV Conflicting interpretations of pathogenicity 67109 rs199472728 11:2594115-2594115 11:2572885-2572885 SDD001 Sudden Infant Death Syndrome KCNH2 NM_000238.4(KCNH2):c.2860C>T (p.Arg954Cys) SNV Conflicting interpretations of pathogenicity 67444 rs141401803 7:150644799-150644799 7:150947711-150947711 SDD001 Sudden Infant Death Syndrome SCN5A NM_198056.2(SCN5A):c.1595T>G (p.Phe532Cys) SNV Conflicting interpretations of pathogenicity 67671 rs199473573 3:38645498-38645498 3:38604007-38604007 SDD001 Sudden Infant Death Syndrome SCN5A NM_198056.2(SCN5A):c.5872C>T (p.Arg1958Ter) SNV Conflicting interpretations of pathogenicity 201546 rs757532106 3:38591991-38591991 3:38550500-38550500 SDD001 Sudden Infant Death Syndrome SCN5A NM_198056.2(SCN5A):c.2924G>A (p.Arg975Gln) SNV Uncertain significance 201483 rs753149586 3:38622726-38622726 3:38581235-38581235 SDD001 Sudden Infant Death Syndrome SCN5A NM_000335.5(SCN5A):c.5783G>A (p.Arg1928His) SNV Uncertain significance 179372 rs727504822 3:38592077-38592077 3:38550586-38550586 SDD001 Sudden Infant Death Syndrome SCN5A NM_000335.5(SCN5A):c.152C>T (p.Ala51Val) SNV Uncertain significance 179791 rs727505131 3:38674647-38674647 3:38633156-38633156 SDD001 Sudden Infant Death Syndrome SCN4B NM_174934.3(SCN4B):c.617C>T (p.Ser206Leu) SNV Uncertain significance 191380 rs140348243 11:118007812-118007812 11:118137097-118137097 SDD001 Sudden Infant Death Syndrome SCN5A NM_198056.2(SCN5A):c.2399G>A (p.Arg800His) SNV Uncertain significance 222807 rs566251672 3:38628928-38628928 3:38587437-38587437 SDD001 Sudden Infant Death Syndrome SCN5A NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr) SNV Uncertain significance 67771 rs137854609 3:38622661-38622661 3:38581170-38581170 SDD001 Sudden Infant Death Syndrome SCN5A NM_198056.2(SCN5A):c.3118G>A (p.Gly1040Arg) SNV Uncertain significance 67779 rs199473186 3:38622532-38622532 3:38581041-38581041 SDD001 Sudden Infant Death Syndrome KCNH2 NM_172057.2(KCNH2):c.2450C>T (p.Pro817Leu) SNV Uncertain significance 67499 rs143167166 7:150642463-150642463 7:150945375-150945375 SDD001 Sudden Infant Death Syndrome SCN5A NM_000335.4(SCN5A):c.1282G>A (p.Glu428Lys) SNV Uncertain significance 30048 rs199473111 3:38647498-38647498 3:38606007-38606007 SDD001 Sudden Infant Death Syndrome KCNH2 NM_172056.2(KCNH2):c.881G>T (p.Gly294Val) SNV Uncertain significance 67539 rs199473549 7:150655182-150655182 7:150958094-150958094 SDD001 Sudden Infant Death Syndrome SCN5A NM_000335.5(SCN5A):c.3553G>A (p.Ala1185Thr) SNV Uncertain significance 67802 rs199473595 3:38616898-38616898 3:38575407-38575407 SDD001 Sudden Infant Death Syndrome SCN5A NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile) SNV Uncertain significance 67924 rs199473278 3:38595797-38595797 3:38554306-38554306 SDD001 Sudden Infant Death Syndrome SCN5A NM_000335.4(SCN5A):c.5686C>T (p.Arg1896Trp) SNV Uncertain significance 68003 rs45465995 3:38592174-38592174 3:38550683-38550683 SDD001 Sudden Infant Death Syndrome SCN5A NM_198056.2(SCN5A):c.5738G>A (p.Arg1913His) SNV Uncertain significance 68009 rs199473327 3:38592125-38592125 3:38550634-38550634 SDD001 Sudden Infant Death Syndrome SCN5A NM_198056.2(SCN5A):c.5803G>A (p.Gly1935Ser) SNV Uncertain significance 68011 rs199473637 3:38592060-38592060 3:38550569-38550569 SDD001 Sudden Infant Death Syndrome SCN5A NM_000335.5(SCN5A):c.5901C>G (p.Ile1967Met) SNV Uncertain significance 68018 rs199473333 3:38591959-38591959 3:38550468-38550468 SDD001 Sudden Infant Death Syndrome SCN5A NM_000335.5(SCN5A):c.880G>A (p.Val294Met) SNV Uncertain significance 68054 rs199473086 3:38651279-38651279 3:38609788-38609788 SDD001 Sudden Infant Death Syndrome KCNH2 NM_172057.2(KCNH2):c.1664C>T (p.Thr555Met) SNV Uncertain significance 67426 rs199473434 7:150645540-150645540 7:150948452-150948452 SDD001 Sudden Infant Death Syndrome KCNQ1 NM_181798.1(KCNQ1):c.997G>A (p.Gly333Ser) SNV Uncertain significance 67031 rs199472783 11:2610069-2610069 11:2588839-2588839 SDD001 Sudden Infant Death Syndrome SCN5A NM_000335.5(SCN5A):c.5474G>A (p.Arg1825His) SNV Uncertain significance 9389 rs137854610 3:38592386-38592386 3:38550895-38550895 SDD001 Sudden Infant Death Syndrome SCN5A NM_198056.2(SCN5A):c.3080G>A (p.Arg1027Gln) SNV Uncertain significance 520458 rs763891399 3:38622570-38622570 3:38581079-38581079 SDD001 Sudden Infant Death Syndrome ND1 m.3308T>G SNV Likely benign 9729 rs28358582 MT:3308-3308 MT:3308-3308 SDD001 Sudden Infant Death Syndrome SCN5A NM_000335.5(SCN5A):c.2039G>A (p.Arg680His) SNV Likely benign 67706 rs199473142 3:38639443-38639443 3:38597952-38597952 SDD001 Sudden Infant Death Syndrome ND1 m.3308T>C SNV Benign/Likely benign 9728 rs28358582 MT:3308-3308 MT:3308-3308 SDD001 Sudden Infant Death Syndrome TRNL1 m.3290T>C SNV Benign 9597 rs199474665 MT:3290-3290 MT:3290-3290 SDD001 Sudden Infant Death Syndrome KCNJ8 NM_004982.4(KCNJ8):c.1001T>C (p.Val334Ala) SNV Benign 137998 rs34811413 12:21918931-21918931 12:21765997-21765997 SDD001 Sudden Infant Death Syndrome KCNJ8 NM_004982.4(KCNJ8):c.793T>C (p.Leu265=) SNV Benign 221022 rs16924297 12:21919139-21919139 12:21766205-21766205 SDD001 Sudden Infant Death Syndrome SCN5A NM_000335.4(SCN5A):c.5111T>C (p.Phe1704Ser) SNV not provided 67954 rs199473627 3:38592749-38592749 3:38551258-38551258 SDD001 Sudden Infant Death Syndrome SCN5A NM_000335.4(SCN5A):c.4453T>C (p.Phe1485Leu) SNV not provided 67894 rs199473615 3:38597233-38597233 3:38555742-38555742 SDD001 Sudden Infant Death Syndrome SCN5A NM_001160161.1(SCN5A):c.3228+1457G>A SNV not provided 67786 rs199473190 3:38620965-38620965 3:38579474-38579474 SDD001 Sudden Infant Death Syndrome KCNH2 NM_172056.2(KCNH2):c.818G>A (p.Arg273Gln) SNV not provided 67531 rs199472877 7:150655245-150655245 7:150958157-150958157 SDD001 Sudden Infant Death Syndrome KCNH2 NM_172056.2(KCNH2):c.835G>A (p.Val279Met) SNV not provided 67534 rs199472879 7:150655228-150655228 7:150958140-150958140 SDD001 Sudden Infant Death Syndrome SCN5A NM_198056.2(SCN5A):c.1076C>A (p.Ala359Asp) SNV not provided 440929 rs1553704925 3:38648224-38648224 3:38606733-38606733 SDD001 Sudden Infant Death Syndrome KCNQ1 NM_181798.1(KCNQ1):c.1369G>A (p.Gly457Ser) SNV not provided 67054 rs199472811 11:2799223-2799223 11:2777993-2777993 SDD001 Sudden Infant Death Syndrome KCNQ1 NM_181798.1(KCNQ1):c.1412A>G (p.Lys471Arg) SNV not provided 67056 rs199472817 11:2799266-2799266 11:2778036-2778036 SDD001 Sudden Infant Death Syndrome KCNH2 NM_172057.2(KCNH2):c.2098A>G (p.Ser700Gly) SNV not provided 67472 rs199473024 7:150644450-150644450 7:150947362-150947362 SDD001 Sudden Infant Death Syndrome NIPBL NM_133433.4(NIPBL):c.7459del (p.Glu2487fs) deletion Pathogenic 523556 rs1554034812 5:37059040-37059040 5:37058938-37058938 TTR001 Tetralogy of Fallot COX3 NC_012920.1:m.9429_9430insCCC insertion Pathogenic 599026 rs1569484299 MT:9429-9430 MT:9429-9430 TTR001 Tetralogy of Fallot COX1 NC_012920.1(MT-CO1):m.6941del deletion Pathogenic 587690 rs1569484126 MT:6939-6939 MT:6939-6939 TTR001 Tetralogy of Fallot COX2 NC_012920.1(MT-CO2):m.7639del deletion Pathogenic 587691 rs1569484164 MT:7638-7638 MT:7638-7638 TTR001 Tetralogy of Fallot COX1 NC_012920.1(MT-CO1):m.6902del deletion Pathogenic 590294 rs1569484122 MT:6900-6900 MT:6900-6900 TTR001 Tetralogy of Fallot COX1 NC_012920.1(MT-CO1):m.6927del deletion Pathogenic 590295 rs1569484124 MT:6925-6925 MT:6925-6925 TTR001 Tetralogy of Fallot COX1 NC_012920.1(MT-CO1):m.5954del deletion Pathogenic 590893 rs1569484042 MT:5954-5954 MT:5954-5954 TTR001 Tetralogy of Fallot COX3 NC_012920.1:m.9441_9442insTTT insertion Pathogenic 599027 rs1569484301 MT:9441-9442 MT:9441-9442 TTR001 Tetralogy of Fallot COX3 NC_012920.1:m.9273_9274insATC insertion Pathogenic 599028 rs1569484288 MT:9273-9274 MT:9273-9274 TTR001 Tetralogy of Fallot TBX1 TBX1, 30-BP DUP, NT1399 duplication Pathogenic 7568 TTR001 Tetralogy of Fallot JAG1 NM_000214.3(JAG1):c.551G>A (p.Arg184His) SNV Pathogenic 7620 rs121918351 20:10639259-10639259 20:10658611-10658611 TTR001 Tetralogy of Fallot NKX2-5 NM_004387.4(NKX2-5):c.646C>T (p.Arg216Cys) SNV Pathogenic 9010 rs104893905 5:172659901-172659901 5:173232898-173232898 TTR001 Tetralogy of Fallot RET NM_020975.6(RET):c.2753T>C (p.Met918Thr) SNV Pathogenic 13919 rs74799832 10:43617416-43617416 10:43121968-43121968 TTR001 Tetralogy of Fallot GATA4 NM_002052.5(GATA4):c.357_359CGC[5] (p.Ala126dup) short repeat Pathogenic 30104 8:11566175-11566176 8:11708666-11708667 TTR001 Tetralogy of Fallot NOTCH1 NM_017617.5(NOTCH1):c.578G>A (p.Gly193Asp) SNV Pathogenic 221999 rs774966208 9:139417466-139417466 9:136523014-136523014 TTR001 Tetralogy of Fallot EPHB4 NM_004444.5(EPHB4):c.980C>T (p.Pro327Leu) SNV Likely pathogenic 222000 rs1057515420 7:100417496-100417496 7:100819874-100819874 TTR001 Tetralogy of Fallot TPM1 NM_001018005.2(TPM1):c.114+2T>C SNV Likely pathogenic 370039 rs1114167357 15:63335144-63335144 15:63042945-63042945 TTR001 Tetralogy of Fallot JAG1 NM_000214.3(JAG1):c.821G>A (p.Gly274Asp) SNV Likely pathogenic 7624 rs28939668 20:10633181-10633181 20:10652533-10652533 TTR001 Tetralogy of Fallot COX1 NC_012920.1:m.6887_6888insGGG insertion Likely pathogenic 590898 rs1569484120 MT:6887-6888 MT:6887-6888 TTR001 Tetralogy of Fallot TBX1 NM_080647.1(TBX1):c.385G>A (p.Glu129Lys) SNV Conflicting interpretations of pathogenicity 488618 rs1445910672 22:19748778-19748778 22:19761255-19761255 TTR001 Tetralogy of Fallot TBX1 NM_080647.1(TBX1):c.1049G>A (p.Gly350Asp) SNV Conflicting interpretations of pathogenicity 518715 rs781731042 22:19753951-19753951 22:19766428-19766428 TTR001 Tetralogy of Fallot JAG1 NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu) SNV Conflicting interpretations of pathogenicity 522881 rs769531968 20:10624455-10624455 20:10643807-10643807 TTR001 Tetralogy of Fallot NKX2-5 NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) SNV Conflicting interpretations of pathogenicity 9008 rs28936670 5:172662014-172662014 5:173235011-173235011 TTR001 Tetralogy of Fallot NKX2-5 NM_004387.4(NKX2-5):c.61G>C (p.Glu21Gln) SNV Conflicting interpretations of pathogenicity 9009 rs104893904 5:172662026-172662026 5:173235023-173235023 TTR001 Tetralogy of Fallot GATA4 NM_002052.5(GATA4):c.487C>T (p.Pro163Ser) SNV Conflicting interpretations of pathogenicity 30099 rs387906769 8:11566308-11566308 8:11708799-11708799 TTR001 Tetralogy of Fallot GATA4 NM_002052.5(GATA4):c.1220C>A (p.Pro407Gln) SNV Conflicting interpretations of pathogenicity 30103 rs115099192 8:11615875-11615875 8:11758366-11758366 TTR001 Tetralogy of Fallot GDF1 NM_001492.6(GDF1):c.485G>A (p.Gly162Asp) SNV Conflicting interpretations of pathogenicity 6749 rs121434424 19:18980040-18980040 19:18869231-18869231 TTR001 Tetralogy of Fallot TBX18 NM_001080508.3(TBX18):c.1285C>T (p.Arg429Ter) SNV Conflicting interpretations of pathogenicity 280531 rs886041719 6:85446942-85446942 6:84737224-84737224 TTR001 Tetralogy of Fallot GATA4 NM_002052.5(GATA4):c.1273G>A (p.Asp425Asn) SNV Conflicting interpretations of pathogenicity 9034 rs56208331 8:11615928-11615928 8:11758419-11758419 TTR001 Tetralogy of Fallot GATA4 NM_001308093.3(GATA4):c.825C>T (p.Cys275=) SNV Conflicting interpretations of pathogenicity 44336 rs55980825 8:11607658-11607658 8:11750149-11750149 TTR001 Tetralogy of Fallot GATA6 NM_005257.5(GATA6):c.592C>G (p.Leu198Val) SNV Conflicting interpretations of pathogenicity 30208 rs387906814 18:19751697-19751697 18:22171736-22171736 TTR001 Tetralogy of Fallot ZFPM2 NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) SNV Conflicting interpretations of pathogenicity 39518 rs187043152 8:106813942-106813942 8:105801714-105801714 TTR001 Tetralogy of Fallot ACTN2 NM_001103.4(ACTN2):c.1930G>A (p.Ala644Thr) SNV Uncertain significance 43920 rs146164600 1:236917337-236917337 1:236754037-236754037 TTR001 Tetralogy of Fallot JAG1 NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln) SNV Uncertain significance 234323 rs149419694 20:10622447-10622447 20:10641799-10641799 TTR001 Tetralogy of Fallot JAG1 NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala) SNV Uncertain significance 424319 rs143966918 20:10620336-10620336 20:10639688-10639688 TTR001 Tetralogy of Fallot GATA4 NM_002052.5(GATA4):c.263G>T (p.Gly88Val) SNV Uncertain significance 472776 rs980402710 8:11566084-11566084 8:11708575-11708575 TTR001 Tetralogy of Fallot TBX1 NM_080647.1(TBX1):c.324C>T (p.Ala108=) SNV Uncertain significance 626178 rs757290764 22:19748717-19748717 22:19761194-19761194 TTR001 Tetralogy of Fallot CRELD1 NM_001077415.3(CRELD1):c.1049-376T>G SNV Uncertain significance 627519 rs73118372 3:9985673-9985673 3:9943989-9943989 TTR001 Tetralogy of Fallot NKX2-5 NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val) SNV Uncertain significance 9011 rs104893902 5:172659891-172659891 5:173232888-173232888 TTR001 Tetralogy of Fallot IRX4 NM_016358.3(IRX4):c.1172C>T (p.Pro391Leu) SNV Uncertain significance 523432 rs1175075312 5:1878471-1878471 5:1878357-1878357 TTR001 Tetralogy of Fallot GATA6 NM_005257.5(GATA6):c.233T>C (p.Leu78Pro) SNV Uncertain significance 540134 rs1253034411 18:19751338-19751338 18:22171377-22171377 TTR001 Tetralogy of Fallot GATA6 NM_005257.5(GATA6):c.839G>C (p.Gly280Ala) SNV Uncertain significance 540131 rs904519303 18:19751944-19751944 18:22171983-22171983 TTR001 Tetralogy of Fallot JAG1 NM_000214.3(JAG1):c.3391G>A (p.Ala1131Thr) SNV Uncertain significance 536530 rs769242977 20:10620412-10620412 20:10639764-10639764 TTR001 Tetralogy of Fallot ZFPM2 NM_012082.4(ZFPM2):c.1318A>G (p.Lys440Glu) SNV Uncertain significance 560631 rs200311467 8:106813628-106813628 8:105801400-105801400 TTR001 Tetralogy of Fallot TBX1 NM_080647.1(TBX1):c.1374C>G (p.Pro458=) SNV Uncertain significance 598931 rs753192876 22:19754276-19754276 22:19766753-19766753 TTR001 Tetralogy of Fallot ZFPM2 NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) SNV Likely benign 6128 rs121908601 8:106431420-106431420 8:105419192-105419192 TTR001 Tetralogy of Fallot GATA6 NM_005257.5(GATA6):c.551G>A (p.Ser184Asn) SNV Benign/Likely benign 30210 rs387906816 18:19751656-19751656 18:22171695-22171695 TTR001 Tetralogy of Fallot ZFPM2 NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly) SNV Benign 6127 rs28374544 8:106814279-106814279 8:105802051-105802051 TTR001 Tetralogy of Fallot HPCA NM_002143.3(HPCA):c.225C>A (p.Asn75Lys) SNV Pathogenic 190118 rs786205675 1:33354724-33354724 1:32889123-32889123 TRS025 Torsion Dystonia 2 HPCA NM_002143.3(HPCA):c.212C>A (p.Thr71Asn) SNV Pathogenic 190119 rs775863165 1:33354711-33354711 1:32889110-32889110 TRS025 Torsion Dystonia 2 HPCA NM_002143.3(HPCA):c.568G>A (p.Ala190Thr) SNV Pathogenic 190120 rs550921485 1:33359449-33359449 1:32893848-32893848 TRS025 Torsion Dystonia 2 ATP6 NC_012920.1:m.9032T>C SNV Pathogenic 693061 MT:9032-9032 MT:9032-9032 TRM003 Tremor HARS1 NM_002109.6(HARS1):c.616G>T (p.Asp206Tyr) SNV Pathogenic 804285 5:140057507-140057507 5:140677922-140677922 TRM003 Tremor HARS1 NM_002109.6:c.730delG deletion Pathogenic 804286 TRM003 Tremor LOC101927919 NC_000006.11:g.(117961791_117961792)_(118280043_118280044)del deletion Pathogenic 180225 6:117961791-118280044 6:117640628-117958881 TRM003 Tremor NUS1 NC_000006.11:g.(117961791_117961792)_(118280043_118280044)del deletion Pathogenic 180225 6:117961791-118280044 6:117640628-117958881 TRM003 Tremor SLC35F1 NC_000006.11:g.(117961791_117961792)_(118280043_118280044)del deletion Pathogenic 180225 6:117961791-118280044 6:117640628-117958881 TRM003 Tremor LOC101927919 NC_000006.11:g.(117971549_117971550)_(118218719_118218720)del deletion Pathogenic 180226 6:117971549-118218720 6:117650386-117897557 TRM003 Tremor NUS1 NC_000006.11:g.(117971549_117971550)_(118218719_118218720)del deletion Pathogenic 180226 6:117971549-118218720 6:117650386-117897557 TRM003 Tremor TMEM67 NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) SNV Pathogenic/Likely pathogenic 217725 rs752362727 8:94798483-94798483 8:93786255-93786255 TRM003 Tremor TMEM67 NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) SNV Pathogenic/Likely pathogenic 1383 rs201893408 8:94808198-94808198 8:93795970-93795970 TRM003 Tremor C19orf12 NM_001256047.1(C19orf12):c.172G>A (p.Gly58Arg) SNV Pathogenic/Likely pathogenic 31157 rs515726205 19:30193873-30193873 19:29702966-29702966 TRM003 Tremor GBA NM_000157.4(GBA):c.1093G>A (p.Glu365Lys) SNV risk factor 199044 rs2230288 1:155206167-155206167 1:155236376-155236376 TRM003 Tremor MPZ NM_000530.8(MPZ):c.699T>G (p.Ser233Arg) SNV Likely pathogenic 374017 rs1057518839 1:161275714-161275714 1:161305924-161305924 TRM003 Tremor C19orf12 NM_001256047.1(C19orf12):c.391A>G (p.Lys131Glu) SNV Conflicting interpretations of pathogenicity 31158 rs146170087 19:30193654-30193654 19:29702747-29702747 TRM003 Tremor GLI2 NM_001374353.1(GLI2):c.2593A>T (p.Thr865Ser) SNV Uncertain significance 523482 rs1332140763 2:121746134-121746134 2:120988558-120988558 TRM003 Tremor ADGRV1 NM_032119.4(ADGRV1):c.5188A>T (p.Ile1730Phe) SNV Uncertain significance 523543 rs1554079046 5:89971137-89971137 5:90675320-90675320 TRM003 Tremor CACNA1H NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe) SNV Uncertain significance 523531 rs772718469 16:1270816-1270816 16:1220816-1220816 TRM003 Tremor LRP1 NM_002332.3(LRP1):c.1576C>G (p.Leu526Val) SNV Uncertain significance 816915 12:57552199-57552199 12:57158416-57158416 TRC062 Tricuspid Atresia LRP1 NM_002332.3(LRP1):c.13559C>G (p.Ser4520Cys) SNV Uncertain significance 816916 12:57606262-57606262 12:57212479-57212479 TRC062 Tricuspid Atresia OPN1SW NM_001708.2(OPN1SW):c.640T>C (p.Ser214Pro) SNV Pathogenic 63 rs104894032 7:128414599-128414599 7:128774545-128774545 TRT020 Tritanopia OPN1SW NM_001708.2(OPN1SW):c.790C>T (p.Pro264Ser) SNV Pathogenic 64 rs104894033 7:128413840-128413840 7:128773786-128773786 TRT020 Tritanopia OPN1SW NM_001708.2(OPN1SW):c.235G>A (p.Gly79Arg) SNV Uncertain significance 62 rs104894031 7:128415610-128415610 7:128775556-128775556 TRT020 Tritanopia CSTB NM_000100.3(CSTB):c.202C>T (p.Arg68Ter) SNV Pathogenic 8396 rs74315442 21:45194178-45194178 21:43774297-43774297 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.3(CSTB):c.10G>C (p.Gly4Arg) SNV Pathogenic 8397 rs74315443 21:45196141-45196141 21:43776260-43776260 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.3(CSTB):c.-210CCCCGCCCCGCG(2_3) NT expansion Pathogenic 8398 21:45196360-45196371 21:43776479-43776490 UNV001 Unverricht-Lundborg Syndrome CSTB CSTB, 2-BP DEL, 2404TC deletion Pathogenic 8399 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.3(CSTB):c.212A>C (p.Gln71Pro) SNV Pathogenic 8400 rs121909346 21:45194168-45194168 21:43774287-43774287 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.3(CSTB):c.-210_-199(30_125) NT expansion Pathogenic 55956 21:45196349-45196360 21:43776468-43776479 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.4(CSTB):c.168+2_168+21delinsAA indel Pathogenic 161421 rs864309482 21:45194518-45194537 21:43774637-43774656 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.3(CSTB):c.168+2_168+19del deletion Pathogenic 161420 rs312262707 21:45194520-45194537 21:43774639-43774656 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.3(CSTB):c.149G>A (p.Gly50Glu) SNV Pathogenic 161419 rs312262708 21:45194558-45194558 21:43774677-43774677 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.3(CSTB):c.136C>T (p.Gln46Ter) SNV Pathogenic 161418 rs545986367 21:45194571-45194571 21:43774690-43774690 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.3(CSTB):c.125C>A (p.Ser42Ter) SNV Pathogenic/Likely pathogenic 55957 rs386833439 21:45194582-45194582 21:43774701-43774701 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.3(CSTB):c.168G>A (p.Lys56=) SNV Pathogenic/Likely pathogenic 55958 rs386833440 21:45194539-45194539 21:43774658-43774658 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.3(CSTB):c.169-2A>G SNV Pathogenic/Likely pathogenic 55959 rs386833441 21:45194213-45194213 21:43774332-43774332 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.4(CSTB):c.214_215TC[2] (p.Leu73fs) short repeat Pathogenic/Likely pathogenic 55960 rs796943858 21:45194161-45194162 21:43774280-43774281 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.3(CSTB):c.66G>A (p.Gln22=) SNV Pathogenic/Likely pathogenic 55961 rs386833443 21:45196085-45196085 21:43776204-43776204 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.3(CSTB):c.67-1G>C SNV Pathogenic/Likely pathogenic 8395 rs147484110 21:45194641-45194641 21:43774760-43774760 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.3(CSTB):c.10G>T (p.Gly4Trp) SNV Likely pathogenic 431700 rs74315443 21:45196141-45196141 21:43776260-43776260 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.3(CSTB):c.-12G>A SNV Conflicting interpretations of pathogenicity 510088 rs779920568 21:45196162-45196162 21:43776281-43776281 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.3(CSTB):c.45G>A (p.Glu15=) SNV Conflicting interpretations of pathogenicity 382295 rs1057521317 21:45196106-45196106 21:43776225-43776225 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.3(CSTB):c.-42C>T SNV Conflicting interpretations of pathogenicity 340122 rs776181852 21:45196192-45196192 21:43776311-43776311 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.3(CSTB):c.121G>A (p.Val41Met) SNV Conflicting interpretations of pathogenicity 195015 rs143153487 21:45194586-45194586 21:43774705-43774705 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.3(CSTB):c.193G>A (p.Val65Ile) SNV Conflicting interpretations of pathogenicity 205323 rs570768038 21:45194187-45194187 21:43774306-43774306 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.3(CSTB):c.*435G>A SNV Uncertain significance 340114 rs149039598 21:45193648-45193648 21:43773767-43773767 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.3(CSTB):c.*355C>G SNV Uncertain significance 340115 rs143062585 21:45193728-45193728 21:43773847-43773847 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.3(CSTB):c.-55G>A SNV Uncertain significance 340125 rs533879406 21:45196205-45196205 21:43776324-43776324 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.3(CSTB):c.169-14C>T SNV Uncertain significance 340121 rs757593576 21:45194225-45194225 21:43774344-43774344 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.3(CSTB):c.-43C>G SNV Uncertain significance 340123 rs886057113 21:45196193-45196193 21:43776312-43776312 UNV001 Unverricht-Lundborg Syndrome CSTB NC_000021.9:g.43773868C>T SNV Uncertain significance 896110 21:45193749-45193749 21:43773868-43773868 UNV001 Unverricht-Lundborg Syndrome CSTB NC_000021.9:g.43773883C>T SNV Uncertain significance 897699 21:45193764-45193764 21:43773883-43773883 UNV001 Unverricht-Lundborg Syndrome CSTB NC_000021.9:g.43773915C>T SNV Uncertain significance 897700 21:45193796-45193796 21:43773915-43773915 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.4(CSTB):c.*209A>T SNV Uncertain significance 897701 21:45193874-45193874 21:43773993-43773993 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.4(CSTB):c.169G>T (p.Val57Leu) SNV Uncertain significance 898861 21:45194211-45194211 21:43774330-43774330 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.4(CSTB):c.9C>T (p.Cys3=) SNV Uncertain significance 895890 21:45196142-45196142 21:43776261-43776261 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.3(CSTB):c.*301G>A SNV Uncertain significance 340117 rs886057111 21:45193782-45193782 21:43773901-43773901 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.3(CSTB):c.*227A>G SNV Uncertain significance 340118 rs886057112 21:45193856-45193856 21:43773975-43773975 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.4(CSTB):c.*93A>G SNV Likely benign 897702 21:45193990-45193990 21:43774109-43774109 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.3(CSTB):c.*69A>G SNV Likely benign 340120 rs142767585 21:45194014-45194014 21:43774133-43774133 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.3(CSTB):c.15G>T (p.Ala5=) SNV Benign/Likely benign 128858 rs4533 21:45196136-45196136 21:43776255-43776255 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.3(CSTB):c.67-3T>C SNV Benign/Likely benign 137037 rs6383 21:45194643-45194643 21:43774762-43774762 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.3(CSTB):c.*325A>G SNV Benign 340116 rs28691645 21:45193758-45193758 21:43773877-43773877 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.3(CSTB):c.-54C>T SNV Benign 340124 rs59649299 21:45196204-45196204 21:43776323-43776323 UNV001 Unverricht-Lundborg Syndrome CSTB NM_000100.3(CSTB):c.*74T>C SNV Benign 340119 rs6385 21:45194009-45194009 21:43774128-43774128 UNV001 Unverricht-Lundborg Syndrome MYO7A NM_000260.4(MYO7A):c.2307del (p.Asn769fs) deletion Pathogenic 402264 rs1060499800 11:76890115-76890115 11:77179069-77179069 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4838del (p.Asp1613fs) deletion Pathogenic 438178 rs1199012623 11:76910849-76910849 11:77199804-77199804 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter) SNV Pathogenic 504505 rs1555051455 11:76853788-76853788 11:77142742-77142742 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter) SNV Pathogenic 504508 rs782539587 11:76872076-76872076 11:77161030-77161030 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1623dup (p.Lys542fs) duplication Pathogenic 521129 rs782077721 11:76873960-76873961 11:77162914-77162915 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.19-2A>G SNV Pathogenic 558668 rs1555051384 11:76853753-76853753 11:77142707-77142707 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.133-2A>G SNV Pathogenic 555778 rs782064437 11:76858842-76858842 11:77147796-77147796 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3504-1G>C SNV Pathogenic 554480 rs1555090171 11:76900388-76900388 11:77189343-77189343 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter) SNV Pathogenic 551138 rs766641715 11:76903288-76903288 11:77192243-77192243 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter) SNV Pathogenic 557045 rs878864531 11:76916607-76916607 11:77205562-77205562 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2461C>T (p.Gln821Ter) SNV Pathogenic 550026 rs1279918132 11:76890874-76890874 11:77179828-77179828 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3594C>A (p.Cys1198Ter) SNV Pathogenic 555608 rs782694195 11:76900479-76900479 11:77189434-77189434 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4297del (p.Gln1433fs) deletion Pathogenic 556038 rs1555096223 11:76905541-76905541 11:77194496-77194496 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5632del (p.Ala1877_Leu1878insTer) deletion Pathogenic 556569 rs1299898646 11:76916656-76916656 11:77205611-77205611 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5886_5889del (p.Phe1962fs) deletion Pathogenic 553558 rs1397834886 11:76919502-76919505 11:77208457-77208460 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6321G>A (p.Trp2107Ter) SNV Pathogenic 551885 rs773945008 11:76922949-76922949 11:77211904-77211904 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3872_3873TC[3] (p.Leu1293fs) short repeat Pathogenic 813431 11:76901863-76901864 11:77190818-77190819 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4996_4997del (p.Ser1666fs) deletion Pathogenic 812101 11:76912636-76912637 11:77201591-77201592 USH036 Usher Syndrome, Type I CDH23 NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter) SNV Pathogenic 812254 10:73539147-73539147 10:71779390-71779390 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1134_1146dup (p.Ser383fs) duplication Pathogenic 812349 11:76871260-76871261 11:77160214-77160215 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5069_5070insC (p.Gln1690fs) insertion Pathogenic 812351 11:76913370-76913371 11:77202325-77202326 USH036 Usher Syndrome, Type I USH1G NM_173477.5(USH1G):c.205dup (p.Leu69fs) duplication Pathogenic 812444 17:72916725-72916726 17:74920630-74920631 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2187+1G>T SNV Pathogenic 812350 11:76886511-76886511 11:77175465-77175465 USH036 Usher Syndrome, Type I CDH23 NM_022124.6(CDH23):c.7872G>A (p.Glu2624=) SNV Pathogenic 813418 10:73563177-73563177 10:71803420-71803420 USH036 Usher Syndrome, Type I USH1G NM_173477.5(USH1G):c.832_851del (p.Ser278fs) deletion Pathogenic 2916 rs397515345 17:72916080-72916099 17:74919985-74920004 USH036 Usher Syndrome, Type I USH1G NM_173477.5(USH1G):c.394dup (p.Val132fs) duplication Pathogenic 2917 rs587776546 17:72916536-72916537 17:74920441-74920442 USH036 Usher Syndrome, Type I CDH23 NM_022124.6(CDH23):c.193del (p.Leu65fs) deletion Pathogenic 4925 rs796051861 10:73269882-73269882 10:71510125-71510125 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) SNV Pathogenic 4933 rs111033260 10:56077174-56077174 10:54317414-54317414 USH036 Usher Syndrome, Type I USH1C NM_153676.4(USH1C):c.497-2del deletion Pathogenic 5140 11:17548589-17548589 11:17527042-17527042 USH036 Usher Syndrome, Type I USH1C NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) duplication Pathogenic 5141 rs397515359 11:17552955-17552956 11:17531408-17531409 USH036 Usher Syndrome, Type I USH1C NM_153676.4(USH1C):c.216G>A (p.Val72=) SNV Pathogenic 5143 rs151045328 11:17552978-17552978 11:17531431-17531431 USH036 Usher Syndrome, Type I USH1C NM_153676.4(USH1C):c.91C>T (p.Arg31Ter) SNV Pathogenic 5146 rs121908370 11:17554815-17554815 11:17533268-17533268 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.448C>T (p.Arg150Ter) SNV Pathogenic 11847 rs121965079 11:76867115-76867115 11:77156069-77156069 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter) SNV Pathogenic 11848 rs41298133 11:76868015-76868015 11:77156969-77156969 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.652_657del (p.Asp218_Ile219del) deletion Pathogenic 11849 rs1555062984 11:76867962-76867967 11:77156916-77156921 USH036 Usher Syndrome, Type I ESPN NM_031475.3(ESPN):c.2369_2386del (p.Arg790_Arg795del) deletion Pathogenic 560535 rs1557720377 1:6517284-6517301 1:6457224-6457241 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys) SNV Pathogenic 11851 rs121965080 11:76867949-76867949 11:77156903-77156903 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1797G>A (p.Met599Ile) SNV Pathogenic 11856 rs121965082 11:76877208-76877208 11:77166162-77166162 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1884C>A (p.Cys628Ter) SNV Pathogenic 11858 rs121965083 11:76883880-76883880 11:77172834-77172834 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter) SNV Pathogenic 11859 rs35689081 11:76853829-76853829 11:77142783-77142783 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter) SNV Pathogenic 11860 rs121965085 11:76885862-76885862 11:77174816-77174816 USH036 Usher Syndrome, Type I MYO7A MYO7A, IVS27AS, G-C, -1 SNV Pathogenic 11861 USH036 Usher Syndrome, Type I CIB2 NM_006383.4(CIB2):c.192G>C (p.Glu64Asp) SNV Pathogenic 39688 rs145415848 15:78403513-78403513 15:78111171-78111171 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1344-2A>G SNV Pathogenic 43143 rs111033415 11:76873164-76873164 11:77162118-77162118 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter) SNV Pathogenic 43164 rs111033180 11:76883896-76883896 11:77172850-77172850 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2283-1G>T SNV Pathogenic 43178 rs397516295 11:76890090-76890090 11:77179044-77179044 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) SNV Pathogenic 43218 rs111033178 11:76901153-76901153 11:77190108-77190108 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter) SNV Pathogenic 43318 rs111033198 11:76922215-76922215 11:77211170-77211170 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6025del (p.Ala2009fs) deletion Pathogenic 43313 rs397516326 11:76919821-76919821 11:77208776-77208776 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.470+1G>A SNV Pathogenic 177712 rs797044510 11:76867138-76867138 11:77156092-77156092 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) SNV Pathogenic 179479 rs797044516 11:76895760-76895760 11:77184715-77184715 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1845del (p.Lys615fs) deletion Pathogenic 218192 rs886037762 11:76883841-76883841 11:77172795-77172795 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.223del (p.Asp75fs) deletion Pathogenic 226431 rs876657415 11:76858930-76858930 11:77147884-77147884 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1952T>C (p.Leu651Pro) SNV Pathogenic 226432 rs876657416 11:76885818-76885818 11:77174772-77174772 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2311G>T (p.Ala771Ser) SNV Pathogenic 226433 rs782384464 11:76890119-76890119 11:77179073-77179073 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.158-1G>A SNV Pathogenic 226439 rs876657418 10:56138703-56138703 10:54378943-54378943 USH036 Usher Syndrome, Type I MYO7A NP_000251.3(MYO7A):p.Tyr1302fsTer97 protein only Pathogenic 226435 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter) SNV Pathogenic 236487 rs878853378 11:76885842-76885842 11:77174796-77174796 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp) SNV Pathogenic/Likely pathogenic 242392 rs878853236 11:76885835-76885835 11:77174789-77174789 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg) SNV Pathogenic/Likely pathogenic 177722 rs782252317 11:76853809-76853809 11:77142763-77142763 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) SNV Pathogenic/Likely pathogenic 178495 rs376764423 11:76919517-76919517 11:77208472-77208472 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter) SNV Pathogenic/Likely pathogenic 43300 rs111033192 11:76918415-76918415 11:77207370-77207370 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) SNV Pathogenic/Likely pathogenic 43327 rs111033283 11:76867955-76867955 11:77156909-77156909 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6439-2A>G SNV Pathogenic/Likely pathogenic 43329 rs397516330 11:76924903-76924903 11:77213858-77213858 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.16del (p.Tyr6fs) deletion Pathogenic/Likely pathogenic 46446 rs397517451 10:56424007-56424007 10:54664247-54664247 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) deletion Pathogenic/Likely pathogenic 43223 rs111033347 11:76901754-76901754 11:77190709-77190709 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) SNV Pathogenic/Likely pathogenic 43230 rs111033181 11:76867068-76867068 11:77156022-77156022 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) SNV Pathogenic/Likely pathogenic 43208 rs111033214 11:76900393-76900393 11:77189348-77189348 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4821T>A (p.Tyr1607Ter) SNV Pathogenic/Likely pathogenic 43261 rs397516315 11:76910832-76910832 11:77199787-77199787 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter) SNV Pathogenic/Likely pathogenic 43270 rs111033182 11:76913402-76913402 11:77202357-77202357 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) SNV Pathogenic/Likely pathogenic 43288 rs368657015 11:76916599-76916599 11:77205554-77205554 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln) SNV Pathogenic/Likely pathogenic 43294 rs111033215 11:76917153-76917153 11:77206108-77206108 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu) SNV Pathogenic/Likely pathogenic 43295 rs199606180 11:76917165-76917165 11:77206120-77206120 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp) SNV Pathogenic/Likely pathogenic 43291 rs397516321 11:76916643-76916643 11:77205598-77205598 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) SNV Pathogenic/Likely pathogenic 43169 rs111033201 11:76885871-76885871 11:77174825-77174825 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp) SNV Pathogenic/Likely pathogenic 43151 rs111033206 11:76873900-76873900 11:77162854-77162854 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1200+1G>A SNV Pathogenic/Likely pathogenic 43138 rs397516283 11:76871329-76871329 11:77160283-77160283 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter) SNV Pathogenic/Likely pathogenic 561263 rs750647872 11:76903177-76903177 11:77192132-77192132 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.635G>A (p.Arg212His) SNV Pathogenic/Likely pathogenic 11850 rs28934610 11:76867950-76867950 11:77156904-77156904 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4108_4111del (p.Gln1370fs) deletion Pathogenic/Likely pathogenic 557834 rs1480697910 11:76903278-76903281 11:77192233-77192236 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) SNV Pathogenic/Likely pathogenic 551533 rs755934966 11:76919825-76919825 11:77208780-77208780 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp) SNV Pathogenic/Likely pathogenic 553245 rs1555067667 11:76871318-76871318 11:77160272-77160272 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.285+2T>G SNV Pathogenic/Likely pathogenic 554125 rs782292032 11:76858998-76858998 11:77147952-77147952 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.47T>A (p.Leu16Ter) SNV Pathogenic/Likely pathogenic 549974 rs1052030 11:76853783-76853783 11:77142737-77142737 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.285+1G>C SNV Pathogenic/Likely pathogenic 419493 rs782661097 11:76858997-76858997 11:77147951-77147951 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter) SNV Pathogenic/Likely pathogenic 371700 rs201892914 11:76890131-76890131 11:77179085-77179085 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1555-8C>G SNV Pathogenic/Likely pathogenic 372430 rs1057517774 11:76873891-76873891 11:77162845-77162845 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter) SNV Pathogenic/Likely pathogenic 372560 rs1057517857 11:76901158-76901158 11:77190113-77190113 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5968C>T (p.Gln1990Ter) SNV Pathogenic/Likely pathogenic 197497 rs773844428 11:76919765-76919765 11:77208720-77208720 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter) SNV Likely pathogenic 371695 rs376535635 11:76893622-76893622 11:77182577-77182577 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1349A>T (p.Glu450Val) SNV Likely pathogenic 438678 rs1555069238 11:76873171-76873171 11:77162125-77162125 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter) SNV Likely pathogenic 402265 rs1060499801 11:76922341-76922341 11:77211296-77211296 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys) SNV Likely pathogenic 438180 rs782166819 11:76868036-76868036 11:77156990-77156990 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.849+5G>A SNV Likely pathogenic 397611 rs1060499716 11:76868443-76868443 11:77157397-77157397 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys) SNV Likely pathogenic 438177 rs1555090294 11:76900431-76900431 11:77189386-77189386 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.117_132+6del deletion Likely pathogenic 556811 rs1555051567 11:76853851-76853872 11:77142805-77142826 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.133-2A>C SNV Likely pathogenic 555254 rs782064437 11:76858842-76858842 11:77147796-77147796 USH036 Usher Syndrome, Type I USH1C NM_153676.4(USH1C):c.92G>A (p.Arg31Gln) SNV Likely pathogenic 522657 rs776511246 11:17554814-17554814 11:17533267-17533267 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg) SNV Likely pathogenic 553070 rs1472566324 11:76867722-76867722 11:77156676-77156676 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2878G>T (p.Glu960Ter) SNV Likely pathogenic 553827 rs782131913 11:76892609-76892609 11:77181563-77181563 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3G>A (p.Met1Ile) SNV Likely pathogenic 553231 rs782787126 11:76841683-76841683 11:77130637-77130637 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.224dup (p.Asp75fs) duplication Likely pathogenic 553215 rs1224819887 11:76858934-76858935 11:77147888-77147889 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5481-1G>C SNV Likely pathogenic 552422 rs1555105118 11:76916506-76916506 11:77205461-77205461 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1591C>T (p.Gln531Ter) SNV Likely pathogenic 553105 rs781951909 11:76873935-76873935 11:77162889-77162889 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1691-2A>G SNV Likely pathogenic 556212 rs1555072299 11:76877100-76877100 11:77166054-77166054 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2283-2_2293del deletion Likely pathogenic 551608 rs1555082041 11:76890085-76890097 11:77179039-77179051 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2239_2240AG[1] (p.Arg747fs) short repeat Likely pathogenic 553252 rs1555080760 11:76888646-76888647 11:77177600-77177601 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4018delinsCC (p.Ala1340fs) indel Likely pathogenic 555671 rs1555092993 11:76903189-76903189 11:77192144-77192144 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4254del (p.Asp1419fs) deletion Likely pathogenic 552398 rs1555096070 11:76905497-76905497 11:77194452-77194452 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4828dup (p.Ala1610fs) duplication Likely pathogenic 553554 rs1555100603 11:76910837-76910838 11:77199792-77199793 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4894del (p.Leu1632fs) deletion Likely pathogenic 552846 rs1188637368 11:76912533-76912533 11:77201488-77201488 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1343+1G>A SNV Likely pathogenic 550186 rs914189193 11:76872162-76872162 11:77161116-77161116 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5543del (p.Asn1848fs) deletion Likely pathogenic 555973 rs1555105202 11:76916568-76916568 11:77205523-77205523 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1798-1G>A SNV Likely pathogenic 557873 rs1555076948 11:76883793-76883793 11:77172747-77172747 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.471-1G>A SNV Likely pathogenic 557808 rs548172627 11:76867705-76867705 11:77156659-77156659 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5857-2A>G SNV Likely pathogenic 555972 rs1555107286 11:76919473-76919473 11:77208428-77208428 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.313del (p.Ala104_Val105insTer) deletion Likely pathogenic 554602 rs1555061466 11:76866980-76866980 11:77155934-77155934 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6051+1G>A SNV Likely pathogenic 558500 rs1403288739 11:76919849-76919849 11:77208804-77208804 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4500_4501TG[1] (p.Val1501fs) short repeat Likely pathogenic 550495 rs1555099541 11:76909598-76909599 11:77198553-77198554 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4569-1G>A SNV Likely pathogenic 558455 rs775792432 11:76910579-76910579 11:77199534-77199534 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5229del (p.Leu1744fs) deletion Likely pathogenic 556935 rs1555103458 11:76914164-76914164 11:77203119-77203119 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4184dup (p.Tyr1396fs) duplication Likely pathogenic 557498 rs1555095933 11:76905429-76905430 11:77194384-77194385 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3815_3822del (p.Leu1272fs) deletion Likely pathogenic 558423 rs1555091636 11:76901806-76901813 11:77190761-77190768 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter) SNV Likely pathogenic 550723 rs1253943370 11:76900461-76900461 11:77189416-77189416 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1935+1G>C SNV Likely pathogenic 550943 rs1343207038 11:76883932-76883932 11:77172886-77172886 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5259del (p.Lys1753fs) deletion Likely pathogenic 556062 rs1555103532 11:76914195-76914195 11:77203150-77203150 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5797del (p.Thr1933fs) deletion Likely pathogenic 558436 rs1555106609 11:76918388-76918388 11:77207343-77207343 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5945-1G>A SNV Likely pathogenic 557287 rs1268984037 11:76919741-76919741 11:77208696-77208696 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4845del (p.Asn1616fs) deletion Likely pathogenic 555952 rs1555100625 11:76910853-76910853 11:77199808-77199808 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4919del (p.Gly1640fs) deletion Likely pathogenic 550868 rs1555101858 11:76912557-76912557 11:77201512-77201512 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5043+1G>T SNV Likely pathogenic 557657 rs1555102147 11:76912684-76912684 11:77201639-77201639 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5488dup (p.Glu1830fs) duplication Likely pathogenic 553211 rs1555105135 11:76916513-76916514 11:77205468-77205469 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.18+2T>A SNV Likely pathogenic 558377 rs564622720 11:76841700-76841700 11:77130654-77130654 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2361C>A (p.Tyr787Ter) SNV Likely pathogenic 554512 rs1555082145 11:76890169-76890169 11:77179123-77179123 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3298G>T (p.Glu1100Ter) SNV Likely pathogenic 557635 rs782468194 11:76894125-76894125 11:77183080-77183080 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3310A>T (p.Lys1104Ter) SNV Likely pathogenic 557562 rs1555085978 11:76894137-76894137 11:77183092-77183092 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3504-2A>G SNV Likely pathogenic 557587 rs1555090168 11:76900387-76900387 11:77189342-77189342 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3924+1G>C SNV Likely pathogenic 558000 rs1226046110 11:76901916-76901916 11:77190871-77190871 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4024del (p.Trp1342fs) deletion Likely pathogenic 551642 rs1555093028 11:76903195-76903195 11:77192150-77192150 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5856G>A (p.Lys1952=) SNV Likely pathogenic 556557 rs1453053718 11:76918447-76918447 11:77207402-77207402 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5956_5959TCAC[3] (p.Tyr1989fs) short repeat Likely pathogenic 556937 rs1555107555 11:76919751-76919752 11:77208706-77208707 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6238-2A>C SNV Likely pathogenic 551617 rs1555109612 11:76922864-76922864 11:77211819-77211819 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4576del (p.Arg1526fs) deletion Likely pathogenic 554681 rs1555100200 11:76910586-76910586 11:77199541-77199541 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4642del (p.Gly1547_Leu1548insTer) deletion Likely pathogenic 555107 rs1555100273 11:76910653-76910653 11:77199608-77199608 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4659_4660del (p.Cys1554fs) deletion Likely pathogenic 558331 rs1555100315 11:76910670-76910671 11:77199625-77199626 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5013del (p.Thr1672fs) deletion Likely pathogenic 555132 rs1555102041 11:76912651-76912651 11:77201606-77201606 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5168+2T>C SNV Likely pathogenic 558006 rs1192104600 11:76913471-76913471 11:77202426-77202426 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3631-1G>C SNV Likely pathogenic 555808 rs1555090885 11:76901064-76901064 11:77190019-77190019 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro) SNV Likely pathogenic 43133 rs397516281 11:76871225-76871225 11:77160179-77160179 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.19-1G>A SNV Likely pathogenic 43163 rs111033426 11:76853754-76853754 11:77142708-77142708 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2187+1G>A SNV Likely pathogenic 43175 rs111033290 11:76886511-76886511 11:77175465-77175465 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1085_1086del (p.Asn362fs) deletion Likely pathogenic 813427 11:76871213-76871214 11:77160167-77160168 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1168C>T (p.Gln390Ter) SNV Likely pathogenic 813428 11:76871296-76871296 11:77160250-77160250 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2355del (p.Asn786fs) deletion Likely pathogenic 813429 11:76890163-76890163 11:77179117-77179117 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2837T>G (p.Met946Arg) SNV Likely pathogenic 813430 11:76892568-76892568 11:77181522-77181522 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.556C>T (p.Gln186Ter) SNV Likely pathogenic 813417 10:56106163-56106163 10:54346403-54346403 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4997_4998GT[2] (p.Tyr1668fs) short repeat Likely pathogenic 829833 11:76912637-76912638 11:77201592-77201593 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.397dup (p.His133fs) duplication Likely pathogenic 43229 rs111033187 11:76867057-76867058 11:77156011-77156012 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) SNV Likely pathogenic 43186 rs111033437 11:76890971-76890971 11:77179925-77179925 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) SNV Likely pathogenic 43335 rs397516332 11:76925653-76925653 11:77214608-77214608 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) SNV Likely pathogenic 43325 rs111033486 11:76867946-76867946 11:77156900-77156900 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) SNV Likely pathogenic 178667 rs797044511 11:76872026-76872026 11:77160980-77160980 USH036 Usher Syndrome, Type I USH1C NP_005700.2(USH1C):p.Arg357Trp protein only Likely pathogenic 226436 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6557T>C (p.Leu2186Pro) SNV Likely pathogenic 226434 rs876657417 11:76925023-76925023 11:77213978-77213978 USH036 Usher Syndrome, Type I USH1G NM_173477.5(USH1G):c.46C>G (p.Leu16Val) SNV Likely pathogenic 226440 rs876657419 17:72919123-72919123 17:74923028-74923028 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) SNV Likely pathogenic 164693 rs727503329 11:76901883-76901883 11:77190838-77190838 USH036 Usher Syndrome, Type I ADGRV1 NM_032119.4(ADGRV1):c.14119G>T (p.Asp4707Tyr) SNV Likely pathogenic 226443 rs1057519383 5:90086765-90086765 5:90790948-90790948 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2904G>A (p.Glu968=) SNV Likely pathogenic 228280 rs111033233 11:76892635-76892635 11:77181589-77181589 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) SNV Likely pathogenic 228282 rs876657655 11:76922207-76922207 11:77211162-77211162 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys) SNV Conflicting interpretations of pathogenicity 229003 rs375510570 11:76890919-76890919 11:77179873-77179873 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu) SNV Conflicting interpretations of pathogenicity 227011 rs139668636 10:55582051-55582051 10:53822291-53822291 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser) SNV Conflicting interpretations of pathogenicity 227009 rs148718874 10:55582674-55582674 10:53822914-53822914 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3702C>G (p.Thr1234=) SNV Conflicting interpretations of pathogenicity 227682 rs77299211 11:76901136-76901136 11:77190091-77190091 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1368C>T (p.Phe456=) SNV Conflicting interpretations of pathogenicity 227677 rs559209306 11:76873190-76873190 11:77162144-77162144 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2181T>C (p.Phe727=) SNV Conflicting interpretations of pathogenicity 227679 rs373656667 11:76886504-76886504 11:77175458-77175458 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3375+14C>A SNV Conflicting interpretations of pathogenicity 227681 rs782500012 11:76894216-76894216 11:77183171-77183171 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.593-4G>A SNV Conflicting interpretations of pathogenicity 227687 rs876657534 11:76867904-76867904 11:77156858-77156858 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.1205G>C (p.Gly402Ala) SNV Conflicting interpretations of pathogenicity 281800 rs145017164 10:55955543-55955543 10:54195783-54195783 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=) SNV Conflicting interpretations of pathogenicity 283823 rs570316231 11:76917193-76917193 11:77206148-77206148 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) SNV Conflicting interpretations of pathogenicity 285518 rs367668576 11:76894124-76894124 11:77183079-77183079 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys) SNV Conflicting interpretations of pathogenicity 229005 rs199810429 11:76893643-76893643 11:77182598-77182598 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5169-6C>T SNV Conflicting interpretations of pathogenicity 288526 rs768594224 11:76914099-76914099 11:77203054-77203054 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.676G>A (p.Ala226Thr) SNV Conflicting interpretations of pathogenicity 291005 rs201753022 11:76867991-76867991 11:77156945-77156945 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2057G>A (p.Arg686His) SNV Conflicting interpretations of pathogenicity 306171 rs781991817 11:76885923-76885923 11:77174877-77174877 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2507G>A (p.Arg836His) SNV Conflicting interpretations of pathogenicity 306177 rs782179888 11:76890920-76890920 11:77179874-77179874 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3662C>G (p.Pro1221Arg) SNV Conflicting interpretations of pathogenicity 306183 rs780594308 11:76901096-76901096 11:77190051-77190051 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.*421C>T SNV Conflicting interpretations of pathogenicity 300156 rs74134797 10:55581197-55581197 10:53821437-53821437 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5661G>A (p.Pro1887=) SNV Conflicting interpretations of pathogenicity 306196 rs375627342 11:76917166-76917166 11:77206121-77206121 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.4749G>A (p.Arg1583=) SNV Conflicting interpretations of pathogenicity 300176 rs767811568 10:55582737-55582737 10:53822977-53822977 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.3501+7G>T SNV Conflicting interpretations of pathogenicity 300181 rs756402556 10:55662996-55662996 10:53903236-53903236 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.3195A>G (p.Gln1065=) SNV Conflicting interpretations of pathogenicity 300183 rs776720353 10:55700663-55700663 10:53940903-53940903 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.4272A>G (p.Pro1424=) SNV Conflicting interpretations of pathogenicity 300177 rs759109238 10:55587248-55587248 10:53827488-53827488 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.3450C>A (p.Ile1150=) SNV Conflicting interpretations of pathogenicity 300182 rs146374856 10:55663054-55663054 10:53903294-53903294 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4153-8C>G SNV Conflicting interpretations of pathogenicity 179432 rs143216377 11:76905391-76905391 11:77194346-77194346 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4153-7C>A SNV Conflicting interpretations of pathogenicity 180061 rs369489756 11:76905392-76905392 11:77194347-77194347 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5373C>T (p.Ser1791=) SNV Conflicting interpretations of pathogenicity 178492 rs376301325 11:76915167-76915167 11:77204122-77204122 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr) SNV Conflicting interpretations of pathogenicity 178496 rs41298759 11:76922875-76922875 11:77211830-77211830 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6363G>A (p.Thr2121=) SNV Conflicting interpretations of pathogenicity 178493 rs367738288 11:76924005-76924005 11:77212960-77212960 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5418C>T (p.Ala1806=) SNV Conflicting interpretations of pathogenicity 178490 rs368749248 11:76915212-76915212 11:77204167-77204167 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5172C>G (p.Pro1724=) SNV Conflicting interpretations of pathogenicity 179630 rs727505004 11:76914108-76914108 11:77203063-77203063 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.942A>G (p.Gln314=) SNV Conflicting interpretations of pathogenicity 178522 rs149481989 10:55996626-55996626 10:54236866-54236866 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.5439A>C (p.Pro1813=) SNV Conflicting interpretations of pathogenicity 164893 rs150303579 10:55582047-55582047 10:53822287-53822287 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.3983+12T>C SNV Conflicting interpretations of pathogenicity 138586 rs149867749 10:55600068-55600068 10:53840308-53840308 USH036 Usher Syndrome, Type I ADGRV1 NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His) SNV Conflicting interpretations of pathogenicity 163623 rs371947306 5:90124769-90124769 5:90828952-90828952 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.1256A>G (p.Asn419Ser) SNV Conflicting interpretations of pathogenicity 164927 rs143827620 10:55955492-55955492 10:54195732-54195732 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.960A>G (p.Pro320=) SNV Conflicting interpretations of pathogenicity 46513 rs41274634 10:55996608-55996608 10:54236848-54236848 USH036 Usher Syndrome, Type I USH1C NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) SNV Conflicting interpretations of pathogenicity 47990 rs146451547 11:17526211-17526211 11:17504664-17504664 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.4974A>C (p.Ser1658=) SNV Conflicting interpretations of pathogenicity 178519 rs147993163 10:55582512-55582512 10:53822752-53822752 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.3724G>A (p.Val1242Met) SNV Conflicting interpretations of pathogenicity 178521 rs201137087 10:55617017-55617017 10:53857257-53857257 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.2884C>T (p.Arg962Cys) SNV Conflicting interpretations of pathogenicity 164914 rs201816080 10:55721637-55721637 10:53961877-53961877 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3925-8G>A SNV Conflicting interpretations of pathogenicity 178484 rs367645097 11:76903088-76903088 11:77192043-77192043 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4153-11C>T SNV Conflicting interpretations of pathogenicity 164696 rs727503330 11:76905388-76905388 11:77194343-77194343 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4153-8C>T SNV Conflicting interpretations of pathogenicity 178485 rs143216377 11:76905391-76905391 11:77194346-77194346 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4845C>A (p.Pro1615=) SNV Conflicting interpretations of pathogenicity 178625 rs61900036 11:76910856-76910856 11:77199811-77199811 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.514C>T (p.Leu172=) SNV Conflicting interpretations of pathogenicity 179841 rs368246776 11:76867749-76867749 11:77156703-77156703 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln) SNV Conflicting interpretations of pathogenicity 179865 rs782023308 11:76873365-76873365 11:77162319-77162319 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) SNV Conflicting interpretations of pathogenicity 191024 rs371029653 11:76890902-76890902 11:77179856-77179856 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1554+7C>T SNV Conflicting interpretations of pathogenicity 178480 rs150114658 11:76873383-76873383 11:77162337-77162337 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg) SNV Conflicting interpretations of pathogenicity 178483 rs60103800 11:76893178-76893178 11:77182132-77182132 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.448C>A (p.Arg150=) SNV Conflicting interpretations of pathogenicity 178475 rs121965079 11:76867115-76867115 11:77156069-77156069 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.133-14C>T SNV Conflicting interpretations of pathogenicity 178476 rs116228809 11:76858830-76858830 11:77147784-77147784 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg) SNV Conflicting interpretations of pathogenicity 178477 rs184866544 11:76868392-76868392 11:77157346-77157346 USH036 Usher Syndrome, Type I USH1C NM_153676.4(USH1C):c.2014-1G>A SNV Conflicting interpretations of pathogenicity 178566 rs150567427 11:17527497-17527497 11:17505950-17505950 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.397C>A (p.His133Asn) SNV Conflicting interpretations of pathogenicity 164656 rs111033403 11:76867064-76867064 11:77156018-77156018 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) SNV Conflicting interpretations of pathogenicity 164664 rs797044491 11:76869450-76869450 11:77158404-77158404 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys) SNV Conflicting interpretations of pathogenicity 164665 rs369997614 11:76870495-76870495 11:77159449-77159449 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn) SNV Conflicting interpretations of pathogenicity 164674 rs187165412 11:76877137-76877137 11:77166091-77166091 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2106C>T (p.Arg702=) SNV Conflicting interpretations of pathogenicity 164678 rs369787754 11:76886429-76886429 11:77175383-77175383 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6214G>A (p.Val2072Ile) SNV Conflicting interpretations of pathogenicity 43322 rs200313391 11:76922359-76922359 11:77211314-77211314 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) SNV Conflicting interpretations of pathogenicity 43305 rs142293185 11:76919484-76919484 11:77208439-77208439 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5904C>T (p.His1968=) SNV Conflicting interpretations of pathogenicity 43309 rs41298753 11:76919522-76919522 11:77208477-77208477 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.687C>T (p.Gly229=) SNV Conflicting interpretations of pathogenicity 43339 rs371142158 11:76868002-76868002 11:77156956-77156956 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=) SNV Conflicting interpretations of pathogenicity 43331 rs111033230 11:76924985-76924985 11:77213940-77213940 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=) SNV Conflicting interpretations of pathogenicity 43958 rs201834743 11:76895731-76895731 11:77184686-77184686 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.1039C>T (p.Leu347Phe) SNV Conflicting interpretations of pathogenicity 46434 rs111033436 10:55973755-55973755 10:54213995-54213995 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.1360G>A (p.Val454Ile) SNV Conflicting interpretations of pathogenicity 46442 rs61735473 10:55944974-55944974 10:54185214-54185214 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.1362C>T (p.Val454=) SNV Conflicting interpretations of pathogenicity 46443 rs61735479 10:55944972-55944972 10:54185212-54185212 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.3502-8C>T SNV Conflicting interpretations of pathogenicity 46469 rs184144118 10:55626625-55626625 10:53866865-53866865 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.4080G>A (p.Val1360=) SNV Conflicting interpretations of pathogenicity 46478 rs111033499 10:55591197-55591197 10:53831437-53831437 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.4103A>G (p.Glu1368Gly) SNV Conflicting interpretations of pathogenicity 46479 rs111033449 10:55591174-55591174 10:53831414-53831414 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.4334C>G (p.Ala1445Gly) SNV Conflicting interpretations of pathogenicity 46480 rs146745502 10:55587186-55587186 10:53827426-53827426 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.1910A>G (p.Asn637Ser) SNV Conflicting interpretations of pathogenicity 46448 rs61731389 10:55892642-55892642 10:54132882-54132882 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.243G>A (p.Val81=) SNV Conflicting interpretations of pathogenicity 46452 rs151119732 10:56138617-56138617 10:54378857-54378857 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.2563C>T (p.Arg855Trp) SNV Conflicting interpretations of pathogenicity 46453 rs138010738 10:55780140-55780140 10:54020380-54020380 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.2625G>A (p.Ser875=) SNV Conflicting interpretations of pathogenicity 46454 rs111033516 10:55780078-55780078 10:54020318-54020318 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.2885G>A (p.Arg962His) SNV Conflicting interpretations of pathogenicity 46457 rs45483395 10:55721636-55721636 10:53961876-53961876 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.2885G>T (p.Arg962Leu) SNV Conflicting interpretations of pathogenicity 46458 rs45483395 10:55721636-55721636 10:53961876-53961876 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.3018G>T (p.Val1006=) SNV Conflicting interpretations of pathogenicity 46461 rs41307518 10:55719596-55719596 10:53959836-53959836 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) SNV Conflicting interpretations of pathogenicity 46484 rs111033362 10:55582636-55582636 10:53822876-53822876 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.475-3C>T SNV Conflicting interpretations of pathogenicity 46485 rs41304641 10:56106247-56106247 10:54346487-54346487 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.4783A>C (p.Ile1595Leu) SNV Conflicting interpretations of pathogenicity 46486 rs397517461 10:55582703-55582703 10:53822943-53822943 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.5283T>A (p.Ala1761=) SNV Conflicting interpretations of pathogenicity 46491 rs375134176 10:55582203-55582203 10:53822443-53822443 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.3795A>T (p.Glu1265Asp) SNV Conflicting interpretations of pathogenicity 46474 rs111033496 10:55616946-55616946 10:53857186-53857186 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.3817C>A (p.Arg1273Ser) SNV Conflicting interpretations of pathogenicity 46475 rs111033363 10:55600246-55600246 10:53840486-53840486 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.5353T>C (p.Ser1785Pro) SNV Conflicting interpretations of pathogenicity 46497 rs144261647 10:55582133-55582133 10:53822373-53822373 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) SNV Conflicting interpretations of pathogenicity 46498 rs61862390 10:55582127-55582127 10:53822367-53822367 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu) SNV Conflicting interpretations of pathogenicity 46500 rs114137983 10:55582072-55582072 10:53822312-53822312 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.546A>G (p.Gly182=) SNV Conflicting interpretations of pathogenicity 46501 rs34164469 10:56106173-56106173 10:54346413-54346413 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) SNV Conflicting interpretations of pathogenicity 46503 rs111033445 10:55581921-55581921 10:53822161-53822161 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met) SNV Conflicting interpretations of pathogenicity 46506 rs191736346 10:55581883-55581883 10:53822123-53822123 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) SNV Conflicting interpretations of pathogenicity 43187 rs200454015 11:76891450-76891450 11:77180404-77180404 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp) SNV Conflicting interpretations of pathogenicity 43193 rs199575418 11:76892613-76892613 11:77181567-77181567 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) SNV Conflicting interpretations of pathogenicity 43194 rs200641606 11:76892617-76892617 11:77181571-77181571 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser) SNV Conflicting interpretations of pathogenicity 43215 rs117966637 11:76900487-76900487 11:77189442-77189442 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2122A>G (p.Met708Val) SNV Conflicting interpretations of pathogenicity 43173 rs397516293 11:76886445-76886445 11:77175399-77175399 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3042G>T (p.Thr1014=) SNV Conflicting interpretations of pathogenicity 43199 rs111033507 11:76893134-76893134 11:77182088-77182088 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3246G>A (p.Thr1082=) SNV Conflicting interpretations of pathogenicity 43200 rs35963362 11:76893606-76893606 11:77182561-77182561 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) SNV Conflicting interpretations of pathogenicity 43242 rs56174006 11:76909559-76909559 11:77198514-77198514 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) SNV Conflicting interpretations of pathogenicity 43233 rs78996818 11:76903245-76903245 11:77192200-77192200 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4153-10C>G SNV Conflicting interpretations of pathogenicity 43234 rs397516306 11:76905389-76905389 11:77194344-77194344 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile) SNV Conflicting interpretations of pathogenicity 43237 rs397516309 11:76908562-76908562 11:77197517-77197517 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr) SNV Conflicting interpretations of pathogenicity 43224 rs41298131 11:76867047-76867047 11:77156001-77156001 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3750+9G>A SNV Conflicting interpretations of pathogenicity 43222 rs111033252 11:76901193-76901193 11:77190148-77190148 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3978C>T (p.Cys1326=) SNV Conflicting interpretations of pathogenicity 43227 rs111033376 11:76903149-76903149 11:77192104-77192104 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val) SNV Conflicting interpretations of pathogenicity 43271 rs199561332 11:76913409-76913409 11:77202364-77202364 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.510G>A (p.Leu170=) SNV Conflicting interpretations of pathogenicity 43272 rs34477144 11:76867745-76867745 11:77156699-77156699 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4577G>A (p.Arg1526His) SNV Conflicting interpretations of pathogenicity 43247 rs397516311 11:76910588-76910588 11:77199543-77199543 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=) SNV Conflicting interpretations of pathogenicity 43251 rs41298745 11:76910631-76910631 11:77199586-77199586 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4698G>A (p.Thr1566=) SNV Conflicting interpretations of pathogenicity 43255 rs200207753 11:76910709-76910709 11:77199664-77199664 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=) SNV Conflicting interpretations of pathogenicity 43293 rs45450893 11:76916645-76916645 11:77205600-77205600 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) SNV Conflicting interpretations of pathogenicity 43298 rs397516323 11:76918395-76918395 11:77207350-77207350 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5598C>T (p.Leu1866=) SNV Conflicting interpretations of pathogenicity 43290 rs111033504 11:76916624-76916624 11:77205579-77205579 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5481-14G>A SNV Conflicting interpretations of pathogenicity 43283 rs113075052 11:76916493-76916493 11:77205448-77205448 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4983C>T (p.Asp1661=) SNV Conflicting interpretations of pathogenicity 43267 rs111033331 11:76912623-76912623 11:77201578-77201578 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=) SNV Conflicting interpretations of pathogenicity 43268 rs181573957 11:76912632-76912632 11:77201587-77201587 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) SNV Conflicting interpretations of pathogenicity 43278 rs111033287 11:76914163-76914163 11:77203118-77203118 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2475C>T (p.Arg825=) SNV Conflicting interpretations of pathogenicity 788602 11:76890888-76890888 11:77179842-77179842 USH036 Usher Syndrome, Type I CDH23 NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn) SNV Conflicting interpretations of pathogenicity 729528 10:73405729-73405729 10:71645972-71645972 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4647C>A (p.Thr1549=) SNV Conflicting interpretations of pathogenicity 723985 11:76910658-76910658 11:77199613-77199613 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.2445C>T (p.Asn815=) SNV Conflicting interpretations of pathogenicity 750711 10:55782733-55782733 10:54022973-54022973 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.19-9C>T SNV Conflicting interpretations of pathogenicity 748880 11:76853746-76853746 11:77142700-77142700 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.4260C>T (p.Pro1420=) SNV Conflicting interpretations of pathogenicity 763790 10:55587260-55587260 10:53827500-53827500 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.3456T>C (p.Gly1152=) SNV Conflicting interpretations of pathogenicity 763305 10:55663048-55663048 10:53903288-53903288 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3783C>T (p.Pro1261=) SNV Conflicting interpretations of pathogenicity 754257 11:76901774-76901774 11:77190729-77190729 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6552G>A (p.Thr2184=) SNV Conflicting interpretations of pathogenicity 761280 11:76925018-76925018 11:77213973-77213973 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.759C>T (p.His253=) SNV Conflicting interpretations of pathogenicity 796037 11:76868348-76868348 11:77157302-77157302 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6090G>A (p.Thr2030=) SNV Conflicting interpretations of pathogenicity 796496 11:76922235-76922235 11:77211190-77211190 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.813C>T (p.Gly271=) SNV Conflicting interpretations of pathogenicity 882559 11:76868402-76868402 11:77157356-77157356 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp) SNV Conflicting interpretations of pathogenicity 43176 rs201234369 11:76888625-76888625 11:77177579-77177579 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2447G>A (p.Arg816His) SNV Conflicting interpretations of pathogenicity 43183 rs148343670 11:76890860-76890860 11:77179814-77179814 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2283G>A (p.Arg761=) SNV Conflicting interpretations of pathogenicity 43179 rs111033229 11:76890091-76890091 11:77179045-77179045 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met) SNV Conflicting interpretations of pathogenicity 43180 rs201203036 11:76890101-76890101 11:77179055-77179055 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1854G>A (p.Leu618=) SNV Conflicting interpretations of pathogenicity 43161 rs35429535 11:76883850-76883850 11:77172804-77172804 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys) SNV Conflicting interpretations of pathogenicity 43135 rs199818783 11:76871260-76871260 11:77160214-77160214 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.133-7C>T SNV Conflicting interpretations of pathogenicity 43141 rs111033221 11:76858837-76858837 11:77147791-77147791 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1605C>T (p.Asn535=) SNV Conflicting interpretations of pathogenicity 43153 rs111033228 11:76873949-76873949 11:77162903-77162903 USH036 Usher Syndrome, Type I USH1C NM_153676.4(USH1C):c.308G>A (p.Arg103His) SNV Conflicting interpretations of pathogenicity 39427 rs397514500 11:17552780-17552780 11:17531233-17531233 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1554+8G>A SNV Conflicting interpretations of pathogenicity 43150 rs111033227 11:76873384-76873384 11:77162338-77162338 USH036 Usher Syndrome, Type I USH1C NM_153676.4(USH1C):c.496+21GCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG[9] short repeat Conflicting interpretations of pathogenicity 5142 rs55983148 11:17548737-17548737 11:17527112-17527113 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1797+13C>T SNV Conflicting interpretations of pathogenicity 881076 11:76877221-76877221 11:77166175-77166175 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.*38G>A SNV Conflicting interpretations of pathogenicity 881497 11:76925779-76925779 11:77214734-77214734 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.*392A>G SNV Conflicting interpretations of pathogenicity 881078 11:76926133-76926133 11:77215088-77215088 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.*416C>T SNV Conflicting interpretations of pathogenicity 881546 11:76926157-76926157 11:77215112-77215112 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.486C>T (p.Ala162=) SNV Conflicting interpretations of pathogenicity 504713 rs367687624 11:76867721-76867721 11:77156675-77156675 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.618C>T (p.Arg206=) SNV Conflicting interpretations of pathogenicity 505248 rs375851346 11:76867933-76867933 11:77156887-77156887 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1343+8G>T SNV Conflicting interpretations of pathogenicity 517205 rs2276278 11:76872169-76872169 11:77161123-77161123 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys) SNV Conflicting interpretations of pathogenicity 555138 rs782279338 11:76871311-76871311 11:77160265-77160265 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4568+13G>A SNV Conflicting interpretations of pathogenicity 505186 rs532356676 11:76909679-76909679 11:77198634-77198634 USH036 Usher Syndrome, Type I USH1C NM_153676.4(USH1C):c.311G>A (p.Gly104Asp) SNV Conflicting interpretations of pathogenicity 554093 rs1317951509 11:17552777-17552777 11:17531230-17531230 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4728G>A (p.Lys1576=) SNV Conflicting interpretations of pathogenicity 504506 rs758921557 11:76910739-76910739 11:77199694-77199694 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5665C>T (p.Leu1889=) SNV Conflicting interpretations of pathogenicity 505431 rs778051833 11:76917170-76917170 11:77206125-77206125 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5480+10G>A SNV Conflicting interpretations of pathogenicity 497478 rs768513428 11:76915284-76915284 11:77204239-77204239 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.-154G>A SNV Conflicting interpretations of pathogenicity 306150 rs545774605 11:76839428-76839428 11:77128382-77128382 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5640C>T (p.Asn1880=) SNV Conflicting interpretations of pathogenicity 306195 rs140664109 11:76917145-76917145 11:77206100-77206100 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.549G>A (p.Ser183=) SNV Conflicting interpretations of pathogenicity 306160 rs188198404 11:76867784-76867784 11:77156738-77156738 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr) SNV Conflicting interpretations of pathogenicity 306167 rs202080237 11:76873180-76873180 11:77162134-77162134 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2697G>A (p.Glu899=) SNV Conflicting interpretations of pathogenicity 306179 rs782531164 11:76892428-76892428 11:77181382-77181382 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3858G>A (p.Ala1286=) SNV Conflicting interpretations of pathogenicity 306184 rs372623270 11:76901849-76901849 11:77190804-77190804 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5088G>T (p.Arg1696=) SNV Conflicting interpretations of pathogenicity 306191 rs886048680 11:76913389-76913389 11:77202344-77202344 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.186G>A (p.Thr62=) SNV Conflicting interpretations of pathogenicity 306154 rs368267301 11:76858897-76858897 11:77147851-77147851 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.1900G>A (p.Val634Ile) SNV Conflicting interpretations of pathogenicity 300192 rs146199636 10:55892652-55892652 10:54132892-54132892 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.1590+15A>G SNV Conflicting interpretations of pathogenicity 300195 rs565203752 10:55943189-55943189 10:54183429-54183429 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.-211A>G SNV Conflicting interpretations of pathogenicity 306146 rs41298129 11:76839371-76839371 11:77128325-77128325 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1690+9G>T SNV Conflicting interpretations of pathogenicity 306169 rs371146074 11:76874043-76874043 11:77162997-77162997 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3415G>A (p.Gly1139Ser) SNV Conflicting interpretations of pathogenicity 306182 rs200840044 11:76895672-76895672 11:77184627-77184627 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.*442T>C SNV Conflicting interpretations of pathogenicity 306209 rs115238711 11:76926183-76926183 11:77215138-77215138 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.*366G>A SNV Uncertain significance 300159 rs187860910 10:55581252-55581252 10:53821492-53821492 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.*64A>T SNV Uncertain significance 300164 rs188426462 10:55581554-55581554 10:53821794-53821794 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.5450C>T (p.Pro1817Leu) SNV Uncertain significance 300170 rs759208006 10:55582036-55582036 10:53822276-53822276 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.4202+5G>A SNV Uncertain significance 300178 rs886047063 10:55591070-55591070 10:53831310-53831310 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.2823G>T (p.Lys941Asn) SNV Uncertain significance 300184 rs773599066 10:55755454-55755454 10:53995694-53995694 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.594G>A (p.Pro198=) SNV Uncertain significance 300202 rs368308772 10:56106125-56106125 10:54346365-54346365 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.575A>G (p.Gln192Arg) SNV Uncertain significance 300203 rs201496062 10:56106144-56106144 10:54346384-54346384 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.466G>C (p.Val156Leu) SNV Uncertain significance 300204 rs534173969 10:56128888-56128888 10:54369128-54369128 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.156C>G (p.Asn52Lys) SNV Uncertain significance 306152 rs886048669 11:76858867-76858867 11:77147821-77147821 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.225C>A (p.Asp75Glu) SNV Uncertain significance 306156 rs782757893 11:76858936-76858936 11:77147890-77147890 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4118G>A (p.Arg1373Gln) SNV Uncertain significance 306186 rs886048677 11:76903289-76903289 11:77192244-77192244 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5214C>A (p.Ala1738=) SNV Uncertain significance 306192 rs886048681 11:76914150-76914150 11:77203105-77203105 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5851G>C (p.Asp1951His) SNV Uncertain significance 306199 rs767931313 11:76918442-76918442 11:77207397-77207397 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5896G>A (p.Val1966Ile) SNV Uncertain significance 306200 rs371313080 11:76919514-76919514 11:77208469-77208469 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5930G>A (p.Arg1977Gln) SNV Uncertain significance 306201 rs762420918 11:76919548-76919548 11:77208503-77208503 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.*101G>A SNV Uncertain significance 306204 rs886048683 11:76925842-76925842 11:77214797-77214797 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2107G>A (p.Gly703Arg) SNV Uncertain significance 306172 rs572300575 11:76886430-76886430 11:77175384-77175384 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2282+5G>A SNV Uncertain significance 306174 rs540145750 11:76888694-76888694 11:77177648-77177648 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3014C>T (p.Ala1005Val) SNV Uncertain significance 306181 rs113326082 11:76893106-76893106 11:77182060-77182060 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.-170C>T SNV Uncertain significance 306148 rs886048667 11:76839412-76839412 11:77128366-77128366 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.-20G>A SNV Uncertain significance 306151 rs886048668 11:76841661-76841661 11:77130615-77130615 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.239G>A (p.Gly80Asp) SNV Uncertain significance 306157 rs376796087 11:76858950-76858950 11:77147904-77147904 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.288G>T (p.Thr96=) SNV Uncertain significance 306158 rs56023295 11:76866955-76866955 11:77155909-77155909 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.895G>A (p.Ala299Thr) SNV Uncertain significance 306164 rs372344870 11:76869368-76869368 11:77158322-77158322 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1242C>T (p.Ile414=) SNV Uncertain significance 306165 rs886048673 11:76872060-76872060 11:77161014-77161014 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.851C>T (p.Ala284Val) SNV Uncertain significance 300199 rs777071595 10:56077056-56077056 10:54317296-54317296 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.665A>G (p.Tyr222Cys) SNV Uncertain significance 300201 rs755845400 10:56089396-56089396 10:54329636-54329636 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.1649T>G (p.Val550Gly) SNV Uncertain significance 300193 rs61735482 10:55912995-55912995 10:54153235-54153235 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.5566G>A (p.Glu1856Lys) SNV Uncertain significance 300168 rs371269732 10:55581920-55581920 10:53822160-53822160 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.5318C>G (p.Pro1773Arg) SNV Uncertain significance 300171 rs745583797 10:55582168-55582168 10:53822408-53822408 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.5177C>T (p.Thr1726Ile) SNV Uncertain significance 300173 rs772619593 10:55582309-55582309 10:53822549-53822549 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.4892C>A (p.Ala1631Glu) SNV Uncertain significance 300175 rs56332160 10:55582594-55582594 10:53822834-53822834 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.215G>T (p.Arg72Leu) SNV Uncertain significance 306155 rs886048670 11:76858926-76858926 11:77147880-77147880 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.562C>G (p.Gln188Glu) SNV Uncertain significance 306161 rs572959359 11:76867797-76867797 11:77156751-77156751 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.571G>C (p.Glu191Gln) SNV Uncertain significance 306162 rs886048672 11:76867806-76867806 11:77156760-77156760 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1344-7C>G SNV Uncertain significance 306166 rs886048674 11:76873159-76873159 11:77162113-77162113 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1554G>A (p.Lys518=) SNV Uncertain significance 306168 rs886048675 11:76873376-76873376 11:77162330-77162330 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2411G>A (p.Arg804Gln) SNV Uncertain significance 306176 rs561347333 11:76890824-76890824 11:77179778-77179778 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4630G>A (p.Gly1544Ser) SNV Uncertain significance 306188 rs886048678 11:76910641-76910641 11:77199596-77199596 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5380G>A (p.Glu1794Lys) SNV Uncertain significance 306194 rs762836180 11:76915174-76915174 11:77204129-77204129 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5820A>G (p.Ser1940=) SNV Uncertain significance 306198 rs886048682 11:76918411-76918411 11:77207366-77207366 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.-196C>T SNV Uncertain significance 306147 rs886048666 11:76839386-76839386 11:77128340-77128340 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4842C>A (p.Asn1614Lys) SNV Uncertain significance 306189 rs749146420 11:76910853-76910853 11:77199808-77199808 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr) SNV Uncertain significance 306170 rs782481491 11:76883797-76883797 11:77172751-77172751 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2679C>T (p.Ala893=) SNV Uncertain significance 306178 rs782279442 11:76891512-76891512 11:77180466-77180466 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.874C>T (p.Arg292Trp) SNV Uncertain significance 306163 rs782505601 11:76869347-76869347 11:77158301-77158301 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5667G>C (p.Leu1889=) SNV Uncertain significance 306197 rs747516555 11:76917172-76917172 11:77206127-77206127 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5950G>A (p.Val1984Met) SNV Uncertain significance 306202 rs377517717 11:76919747-76919747 11:77208702-77208702 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6600G>C (p.Gln2200His) SNV Uncertain significance 306203 rs779431269 11:76925693-76925693 11:77214648-77214648 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.*142A>G SNV Uncertain significance 306205 rs369873505 11:76925883-76925883 11:77214838-77214838 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.*208C>G SNV Uncertain significance 306206 rs886048684 11:76925949-76925949 11:77214904-77214904 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.160A>G (p.Thr54Ala) SNV Uncertain significance 306153 rs369142107 11:76858871-76858871 11:77147825-77147825 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3723A>T (p.Thr1241=) SNV Uncertain significance 374615 rs767426033 11:76901157-76901157 11:77190112-77190112 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5772C>A (p.Ala1924=) SNV Uncertain significance 374616 rs749438001 11:76918363-76918363 11:77207318-77207318 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4018G>A (p.Ala1340Thr) SNV Uncertain significance 378221 rs376291076 11:76903189-76903189 11:77192144-77192144 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.578C>T (p.Thr193Ile) SNV Uncertain significance 500317 rs1188616455 11:76867813-76867813 11:77156767-77156767 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3134T>C (p.Ile1045Thr) SNV Uncertain significance 501914 rs377326213 11:76893494-76893494 11:77182449-77182449 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3943G>A (p.Gly1315Ser) SNV Uncertain significance 517466 rs769771981 11:76903114-76903114 11:77192069-77192069 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3536T>A (p.Leu1179Gln) SNV Uncertain significance 504646 rs199918940 11:76900421-76900421 11:77189376-77189376 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) SNV Uncertain significance 438172 rs782063761 11:76883845-76883845 11:77172799-77172799 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6509C>T (p.Thr2170Ile) SNV Uncertain significance 432663 rs544709413 11:76924975-76924975 11:77213930-77213930 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1189G>A (p.Ala397Thr) SNV Uncertain significance 554214 rs1297886521 11:76871317-76871317 11:77160271-77160271 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.218T>C (p.Leu73Pro) SNV Uncertain significance 556446 rs372188355 11:76858929-76858929 11:77147883-77147883 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.392C>T (p.Pro131Leu) SNV Uncertain significance 557571 rs1555061692 11:76867059-76867059 11:77156013-77156013 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.397C>G (p.His133Asp) SNV Uncertain significance 552051 rs111033403 11:76867064-76867064 11:77156018-77156018 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1817G>A (p.Arg606His) SNV Uncertain significance 517357 rs782311929 11:76883813-76883813 11:77172767-77172767 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.833G>A (p.Arg278His) SNV Uncertain significance 523753 rs369442293 10:56077074-56077074 10:54317314-54317314 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6478T>G (p.Trp2160Gly) SNV Uncertain significance 523750 rs1003695470 11:76924944-76924944 11:77213899-77213899 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5065G>A (p.Asp1689Asn) SNV Uncertain significance 550924 rs544639673 11:76913366-76913366 11:77202321-77202321 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4029G>C (p.Arg1343Ser) SNV Uncertain significance 550372 rs763469001 11:76903200-76903200 11:77192155-77192155 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4033_4035TTC[1] (p.Phe1346del) short repeat Uncertain significance 557280 rs1437625274 11:76903202-76903204 11:77192157-77192159 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2266C>T (p.Arg756Trp) SNV Uncertain significance 551301 rs782174733 11:76888673-76888673 11:77177627-77177627 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2724C>G (p.Asp908Glu) SNV Uncertain significance 552676 rs199979876 11:76892455-76892455 11:77181409-77181409 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3049_3051del (p.Tyr1017del) deletion Uncertain significance 558167 rs1180304045 11:76893140-76893142 11:77182094-77182096 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp) SNV Uncertain significance 553405 rs554073390 11:76895759-76895759 11:77184714-77184714 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3560G>T (p.Ser1187Ile) SNV Uncertain significance 557219 rs1555090314 11:76900445-76900445 11:77189400-77189400 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3797A>G (p.Asp1266Gly) SNV Uncertain significance 557841 rs781670345 11:76901788-76901788 11:77190743-77190743 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1798-3C>G SNV Uncertain significance 550618 rs1555076939 11:76883791-76883791 11:77172745-77172745 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln) SNV Uncertain significance 556881 rs782396605 11:76885863-76885863 11:77174817-77174817 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro) SNV Uncertain significance 553592 rs1385324903 11:76916536-76916536 11:77205491-77205491 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5560G>A (p.Val1854Met) SNV Uncertain significance 555403 rs754761542 11:76916586-76916586 11:77205541-77205541 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6350T>C (p.Val2117Ala) SNV Uncertain significance 551011 rs1555109806 11:76922978-76922978 11:77211933-77211933 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.196_210del (p.Gly66_Met70del) deletion Uncertain significance 555510 rs1555054736 11:76858907-76858921 11:77147861-77147875 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3028_3029insTACACCCGGTTGTCC (p.Gln1010_Gly1011insLeuHisProValVal) insertion Uncertain significance 550760 rs782367511 11:76893117-76893118 11:77182071-77182072 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3109-27_3109-7dup duplication Uncertain significance 551568 rs1555085333 11:76893434-76893435 11:77182389-77182390 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3397G>A (p.Gly1133Arg) SNV Uncertain significance 558149 rs782313913 11:76895654-76895654 11:77184609-77184609 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1348G>C (p.Glu450Gln) SNV Uncertain significance 554415 rs1269622956 11:76873170-76873170 11:77162124-77162124 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1575_1592del (p.Ser530_Asn535del) deletion Uncertain significance 552723 rs1555070062 11:76873919-76873936 11:77162873-77162890 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3701C>G (p.Thr1234Ser) SNV Uncertain significance 554407 rs775908821 11:76901135-76901135 11:77190090-77190090 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3924G>A (p.Lys1308=) SNV Uncertain significance 557465 rs1349274983 11:76901915-76901915 11:77190870-77190870 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3998_4012del (p.Gln1333_Glu1337del) deletion Uncertain significance 556188 rs1555092931 11:76903163-76903177 11:77192118-77192132 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu) SNV Uncertain significance 555588 rs1478464275 11:76914113-76914113 11:77203068-77203068 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6349G>T (p.Val2117Leu) SNV Uncertain significance 554377 rs1555109788 11:76922977-76922977 11:77211932-77211932 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4837_4839dup (p.Asp1613dup) duplication Uncertain significance 550205 rs1555100610 11:76910847-76910848 11:77199802-77199803 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.133-7_146dup duplication Uncertain significance 554667 rs1555054558 11:76858833-76858834 11:77147787-77147788 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.318C>G (p.Asn106Lys) SNV Uncertain significance 557654 rs1555061483 11:76866985-76866985 11:77155939-77155939 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.736-3C>T SNV Uncertain significance 554132 rs1555063792 11:76868322-76868322 11:77157276-77157276 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1588_1605dup (p.Ser530_Asn535dup) duplication Uncertain significance 556010 rs1555070084 11:76873928-76873929 11:77162882-77162883 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5753T>A (p.Val1918Glu) SNV Uncertain significance 558146 rs1555106562 11:76918344-76918344 11:77207299-77207299 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4921G>A (p.Glu1641Lys) SNV Uncertain significance 551961 rs767975012 11:76912561-76912561 11:77201516-77201516 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2023C>T (p.Arg675Cys) SNV Uncertain significance 558557 rs782459520 11:76885889-76885889 11:77174843-77174843 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His) SNV Uncertain significance 551875 rs368705036 11:76901123-76901123 11:77190078-77190078 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4039C>A (p.Arg1347Ser) SNV Uncertain significance 551762 rs111534474 11:76903210-76903210 11:77192165-77192165 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4338_4340GAG[1] (p.Arg1448del) short repeat Uncertain significance 556779 rs1432069074 11:76908540-76908542 11:77197495-77197497 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5507T>C (p.Leu1836Pro) SNV Uncertain significance 553080 rs1164918878 11:76916533-76916533 11:77205488-77205488 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6220C>T (p.Pro2074Ser) SNV Uncertain significance 552433 rs747131589 11:76922365-76922365 11:77211320-77211320 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6235C>T (p.Arg2079Trp) SNV Uncertain significance 550490 rs759614902 11:76922380-76922380 11:77211335-77211335 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6433del (p.Thr2145fs) deletion Uncertain significance 557266 rs1555110680 11:76924072-76924072 11:77213027-77213027 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6459del (p.Phe2154fs) deletion Uncertain significance 552999 rs1555111077 11:76924923-76924923 11:77213878-77213878 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6628_6643del (p.Gly2210fs) deletion Uncertain significance 553745 rs1555111501 11:76925721-76925736 11:77214676-77214691 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.616C>T (p.Arg206Cys) SNV Uncertain significance 551019 rs782361954 11:76867931-76867931 11:77156885-77156885 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1142C>T (p.Thr381Met) SNV Uncertain significance 552693 rs782681743 11:76871270-76871270 11:77160224-77160224 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1172C>T (p.Ala391Val) SNV Uncertain significance 557374 rs1555067608 11:76871300-76871300 11:77160254-77160254 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1403A>G (p.His468Arg) SNV Uncertain significance 553342 rs200304238 11:76873225-76873225 11:77162179-77162179 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3610C>A (p.Pro1204Thr) SNV Uncertain significance 556065 rs1555090442 11:76900495-76900495 11:77189450-77189450 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3437G>A (p.Arg1146Gln) SNV Uncertain significance 557475 rs782140421 11:76895694-76895694 11:77184649-77184649 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.*440G>A SNV Uncertain significance 881547 11:76926181-76926181 11:77215136-77215136 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1201-12A>G SNV Uncertain significance 882606 11:76872007-76872007 11:77160961-77160961 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1690+4C>T SNV Uncertain significance 883430 11:76874038-76874038 11:77162992-77162992 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.*75C>T SNV Uncertain significance 881498 11:76925816-76925816 11:77214771-77214771 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.*100C>T SNV Uncertain significance 881499 11:76925841-76925841 11:77214796-77214796 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.*201T>C SNV Uncertain significance 882655 11:76925942-76925942 11:77214897-77214897 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.*315C>G SNV Uncertain significance 881077 11:76926056-76926056 11:77215011-77215011 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3109-15C>T SNV Uncertain significance 881724 11:76893454-76893454 11:77182409-77182409 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3375+12C>T SNV Uncertain significance 883669 11:76894214-76894214 11:77183169-77183169 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3751-14T>C SNV Uncertain significance 881380 11:76901728-76901728 11:77190683-77190683 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5327-10C>G SNV Uncertain significance 880745 11:76915111-76915111 11:77204066-77204066 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5945-9G>C SNV Uncertain significance 882289 11:76919733-76919733 11:77208688-77208688 USH036 Usher Syndrome, Type I CDH23 NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp) SNV Uncertain significance 4926 rs121908353 10:73572579-73572579 10:71812822-71812822 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.617G>A (p.Arg206His) SNV Uncertain significance 667283 11:76867932-76867932 11:77156886-77156886 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3260T>C (p.Leu1087Pro) SNV Uncertain significance 11862 rs375050157 11:76893620-76893620 11:77182575-77182575 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1401_1403dup (p.His468_Val469insGln) duplication Uncertain significance 43145 rs111033219 11:76873222-76873223 11:77162176-77162177 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1496T>C (p.Ile499Thr) SNV Uncertain significance 43149 rs397516286 11:76873318-76873318 11:77162272-77162272 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1721A>C (p.His574Pro) SNV Uncertain significance 43156 rs397516287 11:76877132-76877132 11:77166086-77166086 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.182C>G (p.Pro61Arg) SNV Uncertain significance 43158 rs397516289 11:76858893-76858893 11:77147847-77147847 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp) SNV Uncertain significance 43160 rs369195493 11:76883842-76883842 11:77172796-77172796 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1232T>C (p.Val411Ala) SNV Uncertain significance 43139 rs369916141 11:76872050-76872050 11:77161004-77161004 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1133G>A (p.Arg378His) SNV Uncertain significance 43136 rs397516282 11:76871261-76871261 11:77160215-77160215 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) SNV Uncertain significance 43134 rs45629132 11:76870496-76870496 11:77159450-77159450 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys) SNV Uncertain significance 43168 rs397516292 11:76885868-76885868 11:77174822-77174822 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2386C>G (p.Arg796Gly) SNV Uncertain significance 43181 rs111033339 11:76890799-76890799 11:77179753-77179753 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2387G>A (p.Arg796Gln) SNV Uncertain significance 43182 rs111033224 11:76890800-76890800 11:77179754-77179754 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2522T>C (p.Leu841Pro) SNV Uncertain significance 43184 rs397516296 11:76890935-76890935 11:77179889-77179889 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2527G>A (p.Val843Met) SNV Uncertain significance 43185 rs140559111 11:76890940-76890940 11:77179894-77179894 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1719G>T (p.Leu573=) SNV Uncertain significance 881075 11:76877130-76877130 11:77166084-77166084 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1871C>T (p.Thr624Met) SNV Uncertain significance 882707 11:76883867-76883867 11:77172821-77172821 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1942G>A (p.Asp648Asn) SNV Uncertain significance 882708 11:76885808-76885808 11:77174762-77174762 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1970G>A (p.Arg657Gln) SNV Uncertain significance 883481 11:76885836-76885836 11:77174790-77174790 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2410C>T (p.Arg804Trp) SNV Uncertain significance 881167 11:76890823-76890823 11:77179777-77179777 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2598C>T (p.Arg866=) SNV Uncertain significance 883582 11:76891431-76891431 11:77180385-77180385 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2755G>A (p.Ala919Thr) SNV Uncertain significance 881683 11:76892486-76892486 11:77181440-77181440 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2787G>A (p.Met929Ile) SNV Uncertain significance 882835 11:76892518-76892518 11:77181472-77181472 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3090C>A (p.Asp1030Glu) SNV Uncertain significance 881262 11:76893182-76893182 11:77182136-77182136 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3594C>T (p.Cys1198=) SNV Uncertain significance 881328 11:76900479-76900479 11:77189434-77189434 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3638G>A (p.Arg1213Gln) SNV Uncertain significance 881771 11:76901072-76901072 11:77190027-77190027 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3862G>T (p.Ala1288Ser) SNV Uncertain significance 881825 11:76901853-76901853 11:77190808-77190808 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4051T>C (p.Phe1351Leu) SNV Uncertain significance 881437 11:76903222-76903222 11:77192177-77192177 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4128G>C (p.Lys1376Asn) SNV Uncertain significance 881872 11:76903299-76903299 11:77192254-77192254 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4432A>C (p.Lys1478Gln) SNV Uncertain significance 883046 11:76908634-76908634 11:77197589-77197589 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4476C>T (p.Ala1492=) SNV Uncertain significance 883826 11:76909574-76909574 11:77198529-77198529 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4689G>A (p.Ala1563=) SNV Uncertain significance 883120 11:76910700-76910700 11:77199655-77199655 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4762G>A (p.Glu1588Lys) SNV Uncertain significance 880608 11:76910773-76910773 11:77199728-77199728 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5018T>A (p.Val1673Asp) SNV Uncertain significance 883973 11:76912658-76912658 11:77201613-77201613 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5186C>T (p.Thr1729Met) SNV Uncertain significance 883236 11:76914122-76914122 11:77203077-77203077 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5397C>A (p.Ile1799=) SNV Uncertain significance 882146 11:76915191-76915191 11:77204146-77204146 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5589C>T (p.His1863=) SNV Uncertain significance 884104 11:76916615-76916615 11:77205570-77205570 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5943C>T (p.Asp1981=) SNV Uncertain significance 880933 11:76919561-76919561 11:77208516-77208516 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5963C>T (p.Thr1988Ile) SNV Uncertain significance 882290 11:76919760-76919760 11:77208715-77208715 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6111G>A (p.Leu2037=) SNV Uncertain significance 883340 11:76922256-76922256 11:77211211-77211211 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6512T>C (p.Ile2171Thr) SNV Uncertain significance 882607 11:76924978-76924978 11:77213933-77213933 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6632C>T (p.Ser2211Phe) SNV Uncertain significance 881039 11:76925725-76925725 11:77214680-77214680 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.944C>T (p.Pro315Leu) SNV Uncertain significance 842988 10:55996624-55996624 10:54236864-54236864 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2120G>A (p.Arg707His) SNV Uncertain significance 839837 11:76886443-76886443 11:77175397-77175397 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5245C>T (p.Arg1749Trp) SNV Uncertain significance 862438 11:76914181-76914181 11:77203136-77203136 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.*600C>A SNV Uncertain significance 878858 10:55581018-55581018 10:53821258-53821258 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.*510T>C SNV Uncertain significance 878859 10:55581108-55581108 10:53821348-53821348 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.*459A>G SNV Uncertain significance 880065 10:55581159-55581159 10:53821399-53821399 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.*109A>G SNV Uncertain significance 880066 10:55581509-55581509 10:53821749-53821749 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.*93T>C SNV Uncertain significance 877278 10:55581525-55581525 10:53821765-53821765 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.*73C>T SNV Uncertain significance 877279 10:55581545-55581545 10:53821785-53821785 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.5824G>A (p.Glu1942Lys) SNV Uncertain significance 877280 10:55581662-55581662 10:53821902-53821902 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.5510C>T (p.Ser1837Phe) SNV Uncertain significance 878317 10:55581976-55581976 10:53822216-53822216 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.4385A>G (p.His1462Arg) SNV Uncertain significance 877331 10:55583101-55583101 10:53823341-53823341 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.4275A>C (p.Ala1425=) SNV Uncertain significance 877332 10:55587245-55587245 10:53827485-53827485 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.3555A>G (p.Ile1185Met) SNV Uncertain significance 878950 10:55626564-55626564 10:53866804-53866804 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.3313C>A (p.Leu1105Ile) SNV Uncertain significance 880169 10:55698635-55698635 10:53938875-53938875 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.2723G>A (p.Gly908Asp) SNV Uncertain significance 877388 10:55779980-55779980 10:54020220-54020220 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.2685G>C (p.Leu895=) SNV Uncertain significance 877389 10:55780018-55780018 10:54020258-54020258 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.1997C>T (p.Thr666Ile) SNV Uncertain significance 878411 10:55849744-55849744 10:54089984-54089984 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.1808T>C (p.Ile603Thr) SNV Uncertain significance 879001 10:55892744-55892744 10:54132984-54132984 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.1780C>A (p.Arg594=) SNV Uncertain significance 879002 10:55912864-55912864 10:54153104-54153104 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.1757C>T (p.Ala586Val) SNV Uncertain significance 879003 10:55912887-55912887 10:54153127-54153127 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.1643T>G (p.Ile548Ser) SNV Uncertain significance 880218 10:55913001-55913001 10:54153241-54153241 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.1373G>A (p.Gly458Asp) SNV Uncertain significance 880220 10:55944961-55944961 10:54185201-54185201 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.1179A>G (p.Pro393=) SNV Uncertain significance 877446 10:55955569-55955569 10:54195809-54195809 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.952G>C (p.Asp318His) SNV Uncertain significance 878469 10:55996616-55996616 10:54236856-54236856 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.526G>A (p.Ala176Thr) SNV Uncertain significance 880272 10:56106193-56106193 10:54346433-54346433 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.400C>A (p.Arg134=) SNV Uncertain significance 880273 10:56128954-56128954 10:54369194-54369194 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.146A>G (p.Glu49Gly) SNV Uncertain significance 880274 10:56287583-56287583 10:54527823-54527823 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.8G>A (p.Arg3Gln) SNV Uncertain significance 877492 10:56424015-56424015 10:54664255-54664255 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.1440+11T>G SNV Uncertain significance 880219 10:55944883-55944883 10:54185123-54185123 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.986-11A>G SNV Uncertain significance 878468 10:55973819-55973819 10:54214059-54214059 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.-52C>G SNV Uncertain significance 884039 11:76839530-76839530 11:77128484-77128484 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.394C>T (p.Pro132Ser) SNV Uncertain significance 884158 11:76867061-76867061 11:77156015-77156015 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.495G>A (p.Thr165=) SNV Uncertain significance 882251 11:76867730-76867730 11:77156684-77156684 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.741G>A (p.Leu247=) SNV Uncertain significance 882288 11:76868330-76868330 11:77157284-77157284 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg) SNV Uncertain significance 43299 rs111033192 11:76918415-76918415 11:77207370-77207370 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4739A>G (p.Tyr1580Cys) SNV Uncertain significance 43256 rs370232066 11:76910750-76910750 11:77199705-77199705 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.484G>A (p.Ala162Thr) SNV Uncertain significance 43262 rs111033485 11:76867719-76867719 11:77156673-77156673 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3750+5G>A SNV Uncertain significance 43220 rs111033391 11:76901189-76901189 11:77190144-77190144 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe) SNV Uncertain significance 43241 rs200416912 11:76909548-76909548 11:77198503-77198503 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln) SNV Uncertain significance 43244 rs202245413 11:76867116-76867116 11:77156070-77156070 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2960C>T (p.Pro987Leu) SNV Uncertain significance 43197 rs397516298 11:76893052-76893052 11:77182006-77182006 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3375+3G>A SNV Uncertain significance 43203 rs397516299 11:76894205-76894205 11:77183160-77183160 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser) SNV Uncertain significance 43213 rs397516302 11:76867025-76867025 11:77155979-77155979 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2618G>A (p.Arg873Gln) SNV Uncertain significance 43189 rs1052032 11:76891451-76891451 11:77180405-77180405 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.593C>T (p.Pro198Leu) SNV Uncertain significance 46509 rs145232643 10:56106126-56106126 10:54346366-54346366 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.1339G>A (p.Asp447Asn) SNV Uncertain significance 46441 rs150509146 10:55944995-55944995 10:54185235-54185235 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.1169A>G (p.Asn390Ser) SNV Uncertain significance 46437 rs397517450 10:55955579-55955579 10:54195819-54195819 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2488C>T (p.Arg830Cys) SNV Uncertain significance 164681 rs797044493 11:76890901-76890901 11:77179855-77179855 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) SNV Uncertain significance 177732 rs368341987 11:76890889-76890889 11:77179843-77179843 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1123C>G (p.Leu375Val) SNV Uncertain significance 164666 rs782728522 11:76871251-76871251 11:77160205-77160205 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1126A>G (p.Ile376Val) SNV Uncertain significance 178478 rs368716988 11:76871254-76871254 11:77160208-77160208 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr) SNV Uncertain significance 164692 rs727503328 11:76901847-76901847 11:77190802-77190802 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) SNV Uncertain significance 196099 rs373147966 11:76900412-76900412 11:77189367-77189367 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp) SNV Uncertain significance 197405 rs748080151 11:76916520-76916520 11:77205475-77205475 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly) SNV Uncertain significance 224749 rs869312181 11:76903286-76903286 11:77192241-77192241 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3472A>G (p.Ile1158Val) SNV Uncertain significance 179514 rs797044517 11:76895729-76895729 11:77184684-77184684 USH036 Usher Syndrome, Type I USH2A NM_206933.3(USH2A):c.9921T>G (p.Cys3307Trp) SNV Uncertain significance 226441 rs1057519382 1:215972286-215972286 1:215798944-215798944 USH036 Usher Syndrome, Type I CDH23 NM_022124.6(CDH23):c.3178C>T (p.Arg1060Trp) SNV Uncertain significance 226437 rs201536811 10:73468926-73468926 10:71709169-71709169 USH036 Usher Syndrome, Type I CDH23 NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp) SNV Uncertain significance 226438 rs375907609 10:73571121-73571121 10:71811364-71811364 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5095C>G (p.Gln1699Glu) SNV Uncertain significance 178932 rs530520654 11:76913396-76913396 11:77202351-77202351 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.2290C>T (p.Arg764Cys) SNV Uncertain significance 164919 rs192813057 10:55782888-55782888 10:54023128-54023128 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3659C>T (p.Pro1220Leu) SNV Uncertain significance 179208 rs727504710 11:76901093-76901093 11:77190048-77190048 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu) SNV Uncertain significance 178283 rs369458838 11:76901818-76901818 11:77190773-77190773 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5857-3C>A SNV Uncertain significance 179770 rs727505114 11:76919472-76919472 11:77208427-77208427 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4195G>C (p.Asp1399His) SNV Uncertain significance 178486 rs373080197 11:76905441-76905441 11:77194396-77194396 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.2807C>T (p.Ala936Val) SNV Uncertain significance 300185 rs369029215 10:55755470-55755470 10:53995710-53995710 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.2768C>T (p.Pro923Leu) SNV Uncertain significance 300186 rs191577774 10:55755509-55755509 10:53995749-53995749 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.2581G>A (p.Val861Met) SNV Uncertain significance 300188 rs142512524 10:55780122-55780122 10:54020362-54020362 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.2539G>A (p.Asp847Asn) SNV Uncertain significance 300189 rs751941551 10:55780164-55780164 10:54020404-54020404 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.2220+9A>G SNV Uncertain significance 300190 rs886047065 10:55826508-55826508 10:54066748-54066748 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.1934G>T (p.Gly645Val) SNV Uncertain significance 300191 rs763226433 10:55849807-55849807 10:54090047-54090047 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.1631T>G (p.Ile544Ser) SNV Uncertain significance 300194 rs886047066 10:55913013-55913013 10:54153253-54153253 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.1172A>G (p.Gln391Arg) SNV Uncertain significance 300197 rs758680936 10:55955576-55955576 10:54195816-54195816 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.-155G>C SNV Uncertain significance 300207 rs886047069 10:56560811-56560811 10:54801051-54801051 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.*558T>A SNV Uncertain significance 300153 rs886047054 10:55581060-55581060 10:53821300-53821300 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.*512G>C SNV Uncertain significance 300154 rs571779869 10:55581106-55581106 10:53821346-53821346 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.3782A>C (p.Glu1261Ala) SNV Uncertain significance 300179 rs201106387 10:55616959-55616959 10:53857199-53857199 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.*389G>A SNV Uncertain significance 300158 rs886047055 10:55581229-55581229 10:53821469-53821469 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.*135T>C SNV Uncertain significance 300162 rs886047058 10:55581483-55581483 10:53821723-53821723 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.5864T>C (p.Leu1955Pro) SNV Uncertain significance 300165 rs751586980 10:55581622-55581622 10:53821862-53821862 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.5726G>T (p.Arg1909Leu) SNV Uncertain significance 300166 rs145851144 10:55581760-55581760 10:53822000-53822000 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.5653C>T (p.His1885Tyr) SNV Uncertain significance 300167 rs886047060 10:55581833-55581833 10:53822073-53822073 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.5480G>T (p.Cys1827Phe) SNV Uncertain significance 300169 rs776844300 10:55582006-55582006 10:53822246-53822246 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4039C>T (p.Arg1347Cys) SNV Uncertain significance 306185 rs111534474 11:76903210-76903210 11:77192165-77192165 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4280C>T (p.Thr1427Met) SNV Uncertain significance 306187 rs547006116 11:76905526-76905526 11:77194481-77194481 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5037G>A (p.Glu1679=) SNV Uncertain significance 306190 rs886048679 11:76912677-76912677 11:77201632-77201632 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5265G>A (p.Ala1755=) SNV Uncertain significance 306193 rs773557376 11:76914201-76914201 11:77203156-77203156 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2146C>G (p.His716Asp) SNV Uncertain significance 306173 rs886048676 11:76886469-76886469 11:77175423-77175423 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2372G>A (p.Arg791His) SNV Uncertain significance 306175 rs782693893 11:76890785-76890785 11:77179739-77179739 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1135G>A (p.Gly379Arg) SNV Uncertain significance 236486 rs878853377 11:76871263-76871263 11:77160217-77160217 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.*486G>A SNV Uncertain significance 300155 rs549184328 10:55581132-55581132 10:53821372-53821372 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.5313T>G (p.Ile1771Met) SNV Uncertain significance 300172 rs886047061 10:55582173-55582173 10:53822413-53822413 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.4993C>A (p.Pro1665Thr) SNV Uncertain significance 300174 rs886047062 10:55582493-55582493 10:53822733-53822733 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.2709A>G (p.Gly903=) SNV Uncertain significance 300187 rs886047064 10:55779994-55779994 10:54020234-54020234 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.1098+14A>G SNV Uncertain significance 300198 rs764625426 10:55973682-55973682 10:54213922-54213922 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.466G>A (p.Val156Met) SNV Uncertain significance 300205 rs534173969 10:56128888-56128888 10:54369128-54369128 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.-126G>A SNV Uncertain significance 300206 rs551107079 10:56560782-56560782 10:54801022-54801022 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.-180C>T SNV Uncertain significance 300208 rs375866561 10:56560836-56560836 10:54801076-54801076 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.-288T>C SNV Uncertain significance 300209 rs566733932 10:56560944-56560944 10:54801184-54801184 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.351G>T (p.Glu117Asp) SNV Uncertain significance 306159 rs886048671 11:76867018-76867018 11:77155972-77155972 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3451C>G (p.Leu1151Val) SNV Uncertain significance 229011 rs782465732 11:76895708-76895708 11:77184663-77184663 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln) SNV Uncertain significance 229012 rs782350886 11:76895748-76895748 11:77184703-77184703 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.29T>C (p.Val10Ala) SNV Uncertain significance 242393 rs878853237 11:76853765-76853765 11:77142719-77142719 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.2138A>G (p.Asn713Ser) SNV Uncertain significance 286893 rs190878515 10:55826599-55826599 10:54066839-54066839 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1619C>A (p.Pro540His) SNV Uncertain significance 228279 rs782607566 11:76873963-76873963 11:77162917-77162917 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4844C>T (p.Pro1615Leu) SNV Uncertain significance 229006 rs201321140 11:76910855-76910855 11:77199810-77199810 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln) SNV Uncertain significance 229007 rs781537330 11:76914182-76914182 11:77203137-77203137 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2798G>A (p.Arg933His) SNV Uncertain significance 229004 rs201489714 11:76892529-76892529 11:77181483-77181483 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6092G>A (p.Arg2031Gln) SNV Uncertain significance 229010 rs762258869 11:76922237-76922237 11:77211192-77211192 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) SNV Uncertain significance 228997 rs868979094 11:76871245-76871245 11:77160199-77160199 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys) SNV Uncertain significance 228999 rs201839693 11:76872106-76872106 11:77161060-77161060 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1945C>T (p.Arg649Trp) SNV Uncertain significance 229000 rs782503314 11:76885811-76885811 11:77174765-77174765 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln) SNV Uncertain significance 229001 rs201178011 11:76885872-76885872 11:77174826-77174826 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3669C>T (p.Tyr1223=) SNV Likely benign 179106 rs727504631 11:76901103-76901103 11:77190058-77190058 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5637-173C>T SNV Likely benign 124186 rs207472020 11:76916969-76916969 11:77205924-77205924 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2421C>T (p.His807=) SNV Likely benign 179827 rs782218928 11:76890834-76890834 11:77179788-77179788 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1506G>A (p.Lys502=) SNV Likely benign 178479 rs181126043 11:76873328-76873328 11:77162282-77162282 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6345C>T (p.Phe2115=) SNV Likely benign 43326 rs397516329 11:76922973-76922973 11:77211928-77211928 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2724C>T (p.Asp908=) SNV Likely benign 43190 rs199979876 11:76892455-76892455 11:77181409-77181409 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2850G>A (p.Leu950=) SNV Likely benign 43191 rs397516297 11:76892581-76892581 11:77181535-77181535 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1868G>A (p.Arg623His) SNV Likely benign 43162 rs111033416 11:76883864-76883864 11:77172818-77172818 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1956C>T (p.Cys652=) SNV Likely benign 43166 rs367693437 11:76885822-76885822 11:77174776-77174776 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.905G>A (p.Arg302His) SNV Likely benign 11852 rs41298135 11:76869378-76869378 11:77158332-77158332 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile) SNV Benign/Likely benign 43170 rs35641839 11:76885901-76885901 11:77174855-77174855 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn) SNV Benign/Likely benign 43177 rs36090425 11:76888643-76888643 11:77177597-77177597 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.286-5C>T SNV Benign/Likely benign 43192 rs111033471 11:76866948-76866948 11:77155902-77155902 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.288G>A (p.Thr96=) SNV Benign/Likely benign 43195 rs56023295 11:76866955-76866955 11:77155909-77155909 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.2754C>T (p.Ala918=) SNV Benign/Likely benign 43188 rs78072361 11:76892485-76892485 11:77181439-77181439 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4568+12C>G SNV Benign/Likely benign 43246 rs72933642 11:76909678-76909678 11:77198633-77198633 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4023C>T (p.Pro1341=) SNV Benign/Likely benign 43231 rs73495790 11:76903194-76903194 11:77192149-77192149 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3828G>A (p.Ser1276=) SNV Benign/Likely benign 43225 rs78871677 11:76901819-76901819 11:77190774-77190774 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4950C>T (p.Asn1650=) SNV Benign/Likely benign 43265 rs80033599 11:76912590-76912590 11:77201545-77201545 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met) SNV Benign/Likely benign 43254 rs41298747 11:76910708-76910708 11:77199663-77199663 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) SNV Benign/Likely benign 43274 rs77625410 11:76913457-76913457 11:77202412-77202412 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=) SNV Benign/Likely benign 43276 rs111033477 11:76914151-76914151 11:77203106-77203106 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4589C>T (p.Ser1530Leu) SNV Benign/Likely benign 43248 rs111033183 11:76910600-76910600 11:77199555-77199555 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5326+13C>T SNV Benign/Likely benign 43279 rs114157944 11:76914275-76914275 11:77203230-77203230 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5559C>T (p.His1853=) SNV Benign/Likely benign 43286 rs373612656 11:76916585-76916585 11:77205540-77205540 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5598C>A (p.Leu1866=) SNV Benign/Likely benign 43287 rs111033504 11:76916624-76916624 11:77205579-77205579 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6052-11G>C SNV Benign/Likely benign 43316 rs112564978 11:76922186-76922186 11:77211141-77211141 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6240C>T (p.Ser2080=) SNV Benign/Likely benign 43323 rs41298757 11:76922868-76922868 11:77211823-77211823 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) SNV Benign/Likely benign 43260 rs139889944 11:76910816-76910816 11:77199771-77199771 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5835C>T (p.Leu1945=) SNV Benign/Likely benign 43302 rs111033476 11:76918426-76918426 11:77207381-77207381 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.1263T>C (p.Thr421=) SNV Benign/Likely benign 46439 rs7921598 10:55955485-55955485 10:54195725-54195725 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.1304A>C (p.Asp435Ala) SNV Benign/Likely benign 46440 rs4935502 10:55955444-55955444 10:54195684-54195684 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.1138G>A (p.Gly380Ser) SNV Benign/Likely benign 46436 rs10825269 10:55955610-55955610 10:54195850-54195850 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.93C>T (p.Cys31=) SNV Benign/Likely benign 43344 rs35689081 11:76853829-76853829 11:77142783-77142783 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.157+3A>G SNV Benign/Likely benign 46444 rs41274636 10:56287569-56287569 10:54527809-54527809 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6559-11C>T SNV Benign/Likely benign 43334 rs34517202 11:76925641-76925641 11:77214596-77214596 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6424G>A (p.Asp2142Asn) SNV Benign/Likely benign 43328 rs1132036 11:76924066-76924066 11:77213021-77213021 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser) SNV Benign/Likely benign 43338 rs111033231 11:76925733-76925733 11:77214688-77214688 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.706-8C>T SNV Benign/Likely benign 46511 rs10740579 10:56077209-56077209 10:54317449-54317449 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.5707A>G (p.Ile1903Val) SNV Benign/Likely benign 46507 rs79854148 10:55581779-55581779 10:53822019-53822019 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.55T>G (p.Ser19Ala) SNV Benign/Likely benign 46504 rs11004439 10:56423968-56423968 10:54664208-54664208 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.5550C>A (p.Thr1850=) SNV Benign/Likely benign 46502 rs112097891 10:55581936-55581936 10:53822176-53822176 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) SNV Benign/Likely benign 46499 rs111033463 10:55582088-55582088 10:53822328-53822328 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.4024C>A (p.Gln1342Lys) SNV Benign/Likely benign 46477 rs61731387 10:55591253-55591253 10:53831493-53831493 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.5286T>A (p.Pro1762=) SNV Benign/Likely benign 46492 rs58461416 10:55582200-55582200 10:53822440-53822440 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.2786G>A (p.Arg929Gln) SNV Benign/Likely benign 46456 rs2135720 10:55755491-55755491 10:53995731-53995731 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.4581C>A (p.Pro1527=) SNV Benign/Likely benign 46482 rs10825114 10:55582905-55582905 10:53823145-53823145 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.3532G>A (p.Val1178Ile) SNV Benign/Likely benign 46470 rs147835286 10:55626587-55626587 10:53866827-53866827 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.1702G>A (p.Ala568Thr) SNV Benign/Likely benign 46447 rs61730754 10:55912942-55912942 10:54153182-54153182 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu) SNV Benign/Likely benign 177747 rs145903555 10:55581929-55581929 10:53822169-53822169 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.2435T>C (p.Ile812Thr) SNV Benign/Likely benign 178628 rs61731363 10:55782743-55782743 10:54022983-54022983 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.3451G>A (p.Gly1151Arg) SNV Benign/Likely benign 179960 rs149478475 10:55663053-55663053 10:53903293-53903293 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.*230A>G SNV Benign/Likely benign 306207 rs112830819 11:76925971-76925971 11:77214926-77214926 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.*504C>T SNV Benign/Likely benign 306210 rs34765389 11:76926245-76926245 11:77215200-77215200 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.*414G>C SNV Benign/Likely benign 300157 rs16937780 10:55581204-55581204 10:53821444-53821444 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.*363A>C SNV Benign/Likely benign 306208 rs115872143 11:76926104-76926104 11:77215059-77215059 USH036 Usher Syndrome, Type I USH2A NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) SNV Benign 48509 rs111033524 1:216371836-216371836 1:216198494-216198494 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.-5A>G SNV Benign 178523 rs142016527 10:56424027-56424027 10:54664267-54664267 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.3374-4C>T SNV Benign 46466 rs111739360 10:55663134-55663134 10:53903374-53903374 USH036 Usher Syndrome, Type I PCDH15 NM_033056.4(PCDH15):c.5598_5600AAC[1] (p.Thr1869del) short repeat Benign 46505 rs113363047 10:55581883-55581885 10:53822123-53822125 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.783T>C (p.Gly261=) SNV Benign 43343 rs762667 11:76868372-76868372 11:77157326-77157326 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5857-7A>T SNV Benign 43303 rs1320703 11:76919468-76919468 11:77208423-77208423 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5860C>A (p.Leu1954Ile) SNV Benign 43304 rs948962 11:76919478-76919478 11:77208433-77208433 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.593-5C>T SNV Benign 43307 rs762666 11:76867903-76867903 11:77156857-77156857 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6318G>A (p.Lys2106=) SNV Benign 43324 rs11237123 11:76922946-76922946 11:77211901-77211901 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.6063G>A (p.Lys2021=) SNV Benign 43317 rs111033209 11:76922208-76922208 11:77211163-77211163 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4996A>T (p.Ser1666Cys) SNV Benign 43269 rs2276288 11:76912636-76912636 11:77201591-77201591 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5715A>G (p.Lys1905=) SNV Benign 43296 rs2276293 11:76917220-76917220 11:77206175-77206175 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.5743-12T>C SNV Benign 43297 rs2276291 11:76918322-76918322 11:77207277-77207277 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.468C>T (p.Ile156=) SNV Benign 43252 rs12420129 11:76867135-76867135 11:77156089-77156089 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.4755C>T (p.Ser1585=) SNV Benign 43257 rs7927472 11:76910766-76910766 11:77199721-77199721 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) SNV Benign 43258 rs1052030 11:76853783-76853783 11:77142737-77142737 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.3924+12C>T SNV Benign 43226 rs2276285 11:76901927-76901927 11:77190882-77190882 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.324C>T (p.Tyr108=) SNV Benign 43201 rs116892396 11:76866991-76866991 11:77155945-77155945 USH036 Usher Syndrome, Type I MYO7A NM_000260.4(MYO7A):c.1343+8G>A SNV Benign 43142 rs2276278 11:76872169-76872169 11:77161123-77161123 USH036 Usher Syndrome, Type I CDH23 NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) SNV Benign 4927 rs41281314 10:73490271-73490271 10:71730514-71730514 USH036 Usher Syndrome, Type I CLRN1 NM_052995.2(CLRN1):c.95T>C (p.Leu32Pro) SNV Pathogenic 633701 rs1559982739 3:150659479-150659479 3:150941692-150941692 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.205+1G>A SNV Pathogenic 638640 3:150659368-150659368 3:150941581-150941581 USH038 Usher Syndrome, Type Iiia CLRN1 NM_001195794.1(CLRN1):c.65T>A (p.Leu22His) SNV Pathogenic 812104 3:150690431-150690431 3:150972644-150972644 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.121_130del (p.Ala41fs) deletion Pathogenic 812272 3:150659444-150659453 3:150941657-150941666 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter) SNV Pathogenic 4392 rs121908140 3:150645894-150645894 3:150928107-150928107 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.131T>A (p.Met44Lys) SNV Pathogenic 4393 rs121908141 3:150659443-150659443 3:150941656-150941656 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.231_233del (p.Ile77_Leu78delinsMet) deletion Pathogenic 4394 rs1085307049 3:150645961-150645963 3:150928174-150928176 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.221T>C (p.Leu74Pro) SNV Pathogenic 4396 rs121908142 3:150645973-150645973 3:150928186-150928186 USH038 Usher Syndrome, Type Iiia CLRN1 NM_001195794.1(CLRN1):c.189C>A (p.Tyr63Ter) SNV Pathogenic 4397 rs111033267 3:150690307-150690307 3:150972520-150972520 USH038 Usher Syndrome, Type Iiia CLRN1 NM_001195794.1(CLRN1):c.188_210del (p.Tyr63fs) deletion Pathogenic 4398 rs1553776036 3:150690286-150690308 3:150972499-150972521 USH038 Usher Syndrome, Type Iiia CLRN1 NM_001195794.1(CLRN1):c.658C>T (p.Arg220Ter) SNV Pathogenic 371628 rs373208120 3:150645803-150645803 3:150928016-150928016 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.73_77del (p.Val25fs) deletion Pathogenic/Likely pathogenic 48145 rs397517932 3:150659497-150659501 3:150941710-150941714 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.140C>A (p.Ala47Asp) SNV Pathogenic/Likely pathogenic 48146 rs374963432 3:150659434-150659434 3:150941647-150941647 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.274dup (p.Ile92fs) duplication Pathogenic/Likely pathogenic 188875 rs746523071 3:150645919-150645920 3:150928132-150928133 USH038 Usher Syndrome, Type Iiia CLRN1 NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) indel Pathogenic/Likely pathogenic 188726 rs786204428 3:150690344-150690347 3:150972557-150972560 USH038 Usher Syndrome, Type Iiia CLRN1 NM_001195794.1(CLRN1):c.128G>T (p.Gly43Val) SNV Likely pathogenic 802016 3:150690368-150690368 3:150972581-150972581 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.209C>A (p.Ser70Tyr) SNV Likely pathogenic 812271 3:150645985-150645985 3:150928198-150928198 USH038 Usher Syndrome, Type Iiia CLRN1 NM_001195794.1(CLRN1):c.3G>A (p.Met1Ile) SNV Likely pathogenic 552903 rs1553776132 3:150690493-150690493 3:150972706-150972706 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.313C>T (p.Gln105Ter) SNV Likely pathogenic 552163 rs376155416 3:150645881-150645881 3:150928094-150928094 USH038 Usher Syndrome, Type Iiia CLRN1 NM_001195794.1(CLRN1):c.151_154del (p.Gly51fs) deletion Likely pathogenic 555763 rs1553776061 3:150690342-150690345 3:150972555-150972558 USH038 Usher Syndrome, Type Iiia CLRN1 NM_001195794.1(CLRN1):c.40G>T (p.Gly14Ter) SNV Likely pathogenic 558249 rs1553776112 3:150690456-150690456 3:150972669-150972669 USH038 Usher Syndrome, Type Iiia CLRN1 NM_001195794.1(CLRN1):c.184C>T (p.Gln62Ter) SNV Likely pathogenic 556984 rs1553776052 3:150690312-150690312 3:150972525-150972525 USH038 Usher Syndrome, Type Iiia CLRN1 NM_001195794.1(CLRN1):c.2T>C (p.Met1Thr) SNV Likely pathogenic 555368 rs1553776135 3:150690494-150690494 3:150972707-150972707 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.144del (p.Phe48fs) deletion Likely pathogenic 557009 rs1553772595 3:150659430-150659430 3:150941643-150941643 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.205+2dup duplication Likely pathogenic 370687 rs1057516687 3:150659366-150659367 3:150941579-150941580 USH038 Usher Syndrome, Type Iiia CLRN1 NM_001195794.1(CLRN1):c.13C>T (p.Gln5Ter) SNV Likely pathogenic 371376 rs1057517224 3:150690483-150690483 3:150972696-150972696 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.*246T>C SNV Conflicting interpretations of pathogenicity 343796 rs374292166 3:150644393-150644393 3:150926606-150926606 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.342+404A>G SNV Conflicting interpretations of pathogenicity 343814 rs570356810 3:150645448-150645448 3:150927661-150927661 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.342+406G>A SNV Conflicting interpretations of pathogenicity 343812 rs200685524 3:150645446-150645446 3:150927659-150927659 USH038 Usher Syndrome, Type Iiia CLRN1 NM_001195794.1(CLRN1):c.20A>T (p.Lys7Ile) SNV Conflicting interpretations of pathogenicity 730216 3:150690476-150690476 3:150972689-150972689 USH038 Usher Syndrome, Type Iiia CLRN1 NM_001195794.1(CLRN1):c.144T>G (p.Asn48Lys) SNV Conflicting interpretations of pathogenicity 4395 rs111033258 3:150690352-150690352 3:150972565-150972565 USH038 Usher Syndrome, Type Iiia CLRN1-AS1 NM_001195794.1(CLRN1):c.144T>G (p.Asn48Lys) SNV Conflicting interpretations of pathogenicity 4395 rs111033258 3:150690352-150690352 3:150972565-150972565 USH038 Usher Syndrome, Type Iiia CLRN1 NM_001195794.1(CLRN1):c.699C>T (p.Asp233=) SNV Conflicting interpretations of pathogenicity 178318 rs148752352 3:150645762-150645762 3:150927975-150927975 USH038 Usher Syndrome, Type Iiia CLRN1 NM_001195794.1(CLRN1):c.118T>G (p.Cys40Gly) SNV Conflicting interpretations of pathogenicity 4399 rs121908143 3:150690378-150690378 3:150972591-150972591 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.*97T>C SNV Uncertain significance 900993 3:150644542-150644542 3:150926755-150926755 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.205+1061A>T SNV Uncertain significance 228521 rs567709615 3:150658308-150658308 3:150940521-150940521 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.343-25A>T SNV Uncertain significance 343798 rs200446881 3:150644684-150644684 3:150926897-150926897 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.343-208G>A SNV Uncertain significance 343802 rs748935256 3:150644867-150644867 3:150927080-150927080 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.343-32T>C SNV Uncertain significance 900994 3:150644691-150644691 3:150926904-150926904 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.*178G>A SNV Uncertain significance 900991 3:150644461-150644461 3:150926674-150926674 USH038 Usher Syndrome, Type Iiia CLRN1 NM_001195794.1(CLRN1):c.209G>A (p.Gly70Asp) SNV Uncertain significance 599094 rs1559996059 3:150690287-150690287 3:150972500-150972500 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.-103dup duplication Uncertain significance 554981 rs1553772899 3:150661733-150661734 3:150943946-150943947 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.-16_-3del deletion Uncertain significance 550785 rs1553772861 3:150661634-150661647 3:150943847-150943860 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.3G>A (p.Met1Ile) SNV Uncertain significance 555400 rs780023517 3:150661629-150661629 3:150943842-150943842 USH038 Usher Syndrome, Type Iiia CLRN1 NM_001195794.1(CLRN1):c.183G>A (p.Met61Ile) SNV Uncertain significance 501869 rs140094683 3:150690313-150690313 3:150972526-150972526 USH038 Usher Syndrome, Type Iiia CLRN1 NM_001195794.1(CLRN1):c.218A>G (p.Gln73Arg) SNV Uncertain significance 504559 rs201008540 3:150690278-150690278 3:150972491-150972491 USH038 Usher Syndrome, Type Iiia CLRN1 NM_001195794.1(CLRN1):c.454_460ACCAGGC[3] (p.Gln157fs) short repeat Uncertain significance 552795 rs768093614 3:150658272-150658273 3:150940485-150940486 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.228_230del (p.Met76del) deletion Uncertain significance 555917 rs1553770929 3:150645964-150645966 3:150928177-150928179 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.205+1102G>T SNV Uncertain significance 556437 rs1553772414 3:150658267-150658267 3:150940480-150940480 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.179G>A (p.Gly60Glu) SNV Uncertain significance 556027 rs779258184 3:150659395-150659395 3:150941608-150941608 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.63C>T (p.Ile21=) SNV Uncertain significance 556088 rs1231233910 3:150659511-150659511 3:150941724-150941724 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.-32del deletion Uncertain significance 554097 rs1032160668 3:150661663-150661663 3:150943876-150943876 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.343-229G>T SNV Uncertain significance 901550 3:150644888-150644888 3:150927101-150927101 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.343-249T>C SNV Uncertain significance 901551 3:150644908-150644908 3:150927121-150927121 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.343-472G>C SNV Uncertain significance 901552 3:150645131-150645131 3:150927344-150927344 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.343-527T>C SNV Uncertain significance 901553 3:150645186-150645186 3:150927399-150927399 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.342+427T>C SNV Uncertain significance 903490 3:150645425-150645425 3:150927638-150927638 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.342+378G>A SNV Uncertain significance 899879 3:150645474-150645474 3:150927687-150927687 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.342+222T>C SNV Uncertain significance 899880 3:150645630-150645630 3:150927843-150927843 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.342+138C>G SNV Uncertain significance 899881 3:150645714-150645714 3:150927927-150927927 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.274A>T (p.Ile92Phe) SNV Uncertain significance 899882 3:150645920-150645920 3:150928133-150928133 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.183G>A (p.Leu61=) SNV Uncertain significance 901061 3:150659391-150659391 3:150941604-150941604 USH038 Usher Syndrome, Type Iiia CLRN1 NM_001195794.1(CLRN1):c.185A>G (p.Gln62Arg) SNV Uncertain significance 901062 3:150690311-150690311 3:150972524-150972524 USH038 Usher Syndrome, Type Iiia CLRN1 NM_001195794.1(CLRN1):c.-91C>T SNV Uncertain significance 901607 3:150690586-150690586 3:150972799-150972799 USH038 Usher Syndrome, Type Iiia CLRN1 NM_001195794.1(CLRN1):c.-141C>T SNV Uncertain significance 901608 3:150690636-150690636 3:150972849-150972849 USH038 Usher Syndrome, Type Iiia CLRN1 NM_001195794.1(CLRN1):c.-186A>G SNV Uncertain significance 901609 3:150690681-150690681 3:150972894-150972894 USH038 Usher Syndrome, Type Iiia CLRN1 NM_001195794.1(CLRN1):c.-229A>G SNV Uncertain significance 901610 3:150690724-150690724 3:150972937-150972937 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.206-3C>A SNV Uncertain significance 901060 3:150645991-150645991 3:150928204-150928204 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.245A>G (p.Glu82Gly) SNV Uncertain significance 343817 rs369185342 3:150645949-150645949 3:150928162-150928162 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.342+244G>A SNV Uncertain significance 343815 rs182501934 3:150645608-150645608 3:150927821-150927821 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.*81C>G SNV Uncertain significance 343797 rs769315815 3:150644558-150644558 3:150926771-150926771 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.342+436G>T SNV Uncertain significance 343806 rs886058091 3:150645416-150645416 3:150927629-150927629 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.342+219A>G SNV Uncertain significance 343816 rs780643561 3:150645633-150645633 3:150927846-150927846 USH038 Usher Syndrome, Type Iiia CLRN1 NM_001195794.1(CLRN1):c.-82T>C SNV Uncertain significance 343819 rs778235601 3:150690577-150690577 3:150972790-150972790 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.*247C>T SNV Uncertain significance 343795 rs763746069 3:150644392-150644392 3:150926605-150926605 USH038 Usher Syndrome, Type Iiia CLRN1 NM_001195794.1(CLRN1):c.-274A>C SNV Uncertain significance 343820 rs886058092 3:150690769-150690769 3:150972982-150972982 USH038 Usher Syndrome, Type Iiia CLRN1 NM_001195794.1(CLRN1):c.-289G>A SNV Uncertain significance 343821 rs55842922 3:150690784-150690784 3:150972997-150972997 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.343-26G>A SNV Uncertain significance 343799 rs201534956 3:150644685-150644685 3:150926898-150926898 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.342+554G>A SNV Uncertain significance 343803 rs778645950 3:150645298-150645298 3:150927511-150927511 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.25+2T>C SNV Likely benign 553531 rs778574679 3:150661605-150661605 3:150943818-150943818 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.-49C>T SNV Likely benign 552508 rs758741442 3:150661680-150661680 3:150943893-150943893 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.108C>G (p.Thr36=) SNV Likely benign 552809 rs565400473 3:150659466-150659466 3:150941679-150941679 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.-28del deletion Likely benign 553157 rs1211060908 3:150661659-150661659 3:150943872-150943872 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.2T>G (p.Met1Arg) SNV Likely benign 555657 rs963890618 3:150661630-150661630 3:150943843-150943843 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.*107T>C SNV Likely benign 900992 3:150644532-150644532 3:150926745-150926745 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.343-37T>G SNV Likely benign 901549 3:150644696-150644696 3:150926909-150926909 USH038 Usher Syndrome, Type Iiia CLRN1 NM_001195794.1(CLRN1):c.57A>T (p.Ala19=) SNV Benign/Likely benign 48147 rs3796242 3:150690439-150690439 3:150972652-150972652 USH038 Usher Syndrome, Type Iiia CLRN1 NM_001195794.1(CLRN1):c.6A>C (p.Pro2=) SNV Benign/Likely benign 48148 rs111033422 3:150690490-150690490 3:150972703-150972703 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.343-100C>T SNV Benign/Likely benign 343800 rs16863066 3:150644759-150644759 3:150926972-150926972 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.343-180A>C SNV Benign/Likely benign 343801 rs12635299 3:150644839-150644839 3:150927052-150927052 USH038 Usher Syndrome, Type Iiia CLRN1 NM_001195794.1(CLRN1):c.-71A>G SNV Benign/Likely benign 343818 rs3796240 3:150690566-150690566 3:150972779-150972779 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.342+501C>T SNV Benign 343804 rs4680058 3:150645351-150645351 3:150927564-150927564 USH038 Usher Syndrome, Type Iiia CLRN1 NM_052995.2(CLRN1):c.342+444C>T SNV Benign 343805 rs1456138 3:150645408-150645408 3:150927621-150927621 USH038 Usher Syndrome, Type Iiia PAX3 NM_181458.4(PAX3):c.879dup (p.Phe294fs) duplication Pathogenic 505425 rs1553572967 2:223086019-223086020 2:222221300-222221301 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.1230C>G (p.Tyr410Ter) SNV Pathogenic 545017 rs147111779 2:223066853-223066853 2:222202134-222202134 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.811C>T (p.Arg271Cys) SNV Pathogenic 547748 rs1380858784 2:223086088-223086088 2:222221369-222221369 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.808C>T (p.Arg270Cys) SNV Pathogenic 547747 rs1228590199 2:223086091-223086091 2:222221372-222221372 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.218C>T (p.Ser73Leu) SNV Pathogenic 547733 rs1553593928 2:223161800-223161800 2:222297081-222297081 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.1076_1077del (p.Thr359fs) deletion Pathogenic 800731 2:223084955-223084956 2:222220236-222220237 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.127G>T (p.Gly43Cys) SNV Pathogenic 827652 2:223161891-223161891 2:222297172-222297172 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.185_202del (p.Met62_Ile67del) deletion Pathogenic 4205 rs1559320436 2:223161816-223161833 2:222297097-222297114 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.149C>T (p.Pro50Leu) SNV Pathogenic 4206 rs104893650 2:223161869-223161869 2:222297150-222297150 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.268_281del (p.Tyr90fs) deletion Pathogenic 4207 rs1559320252 2:223161737-223161750 2:222297018-222297031 WRD030 Waardenburg Syndrome, Type 1 PAX3 PAX3, 1-BP DEL deletion Pathogenic 4208 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.556_557CA[1] (p.His186fs) short repeat Pathogenic 4209 rs1559316535 2:223158913-223158914 2:222294194-222294195 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181457.3(PAX3):c.242G>C (p.Gly81Ala) SNV Pathogenic 4210 rs587776586 2:223161776-223161776 2:222297057-222297057 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.365_369del (p.Lys122fs) deletion Pathogenic 4211 rs1559318562 2:223160329-223160333 2:222295610-222295614 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.251C>T (p.Ser84Phe) SNV Pathogenic 4212 rs104893651 2:223161767-223161767 2:222297048-222297048 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.167G>T (p.Arg56Leu) SNV Pathogenic 4217 rs267606931 2:223161851-223161851 2:222297132-222297132 WRD030 Waardenburg Syndrome, Type 1 MITF NM_001354604.2(MITF):c.964_966AGA[2] (p.Arg324del) short repeat Pathogenic 14272 rs1553704814 3:70005612-70005614 3:69956461-69956463 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.238C>G (p.His80Asp) SNV Pathogenic 30595 rs387906947 2:223161780-223161780 2:222297061-222297061 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.556del (p.His186fs) deletion Pathogenic 30596 rs1559316542 2:223158916-223158916 2:222294197-222294197 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_001127366.2(PAX3):c.(?_-77)_(583_?)+547del deletion Pathogenic 228386 2:223158339-223163411 2:222293620-222298692 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.668G>A (p.Arg223Gln) SNV Pathogenic 228387 rs876657717 2:223096921-223096921 2:222232202-222232202 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.415A>T (p.Lys139Ter) SNV Pathogenic 235094 rs876661317 2:223160283-223160283 2:222295564-222295564 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.784C>T (p.Arg262Ter) SNV Pathogenic 280007 rs886041319 2:223096805-223096805 2:222232086-222232086 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.812G>A (p.Arg271His) SNV Pathogenic 279964 rs774528745 2:223086087-223086087 2:222221368-222221368 WRD030 Waardenburg Syndrome, Type 1 MITF NM_001354604.2(MITF):c.1031+1G>A SNV Pathogenic/Likely pathogenic 545015 rs1559749017 3:70005682-70005682 3:69956531-69956531 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.142G>C (p.Gly48Arg) SNV Pathogenic/Likely pathogenic 488038 rs1419548558 2:223161876-223161876 2:222297157-222297157 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.124G>C (p.Gly42Arg) SNV Likely pathogenic 488034 rs773327091 2:223161894-223161894 2:222297175-222297175 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.464del (p.Ser155fs) deletion Likely pathogenic 488037 rs1553592766 2:223159008-223159008 2:222294289-222294289 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.790C>T (p.Gln264Ter) SNV Likely pathogenic 488036 rs1553575159 2:223096799-223096799 2:222232080-222232080 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.727_739del (p.Tyr243fs) deletion Likely pathogenic 488033 rs1553575179 2:223096850-223096862 2:222232131-222232143 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.149_160del (p.Pro50_Asn53del) deletion Likely pathogenic 488035 rs1553593965 2:223161858-223161869 2:222297139-222297150 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.142G>T (p.Gly48Cys) SNV Likely pathogenic 488032 rs1419548558 2:223161876-223161876 2:222297157-222297157 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.256A>T (p.Ile86Phe) SNV Likely pathogenic 545018 rs1559320299 2:223161762-223161762 2:222297043-222297043 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.1372_1375dup (p.Ser459fs) duplication Likely pathogenic 547753 rs1553568831 2:223066707-223066708 2:222201988-222201989 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.1277C>A (p.Ser426Ter) SNV Likely pathogenic 547752 rs369886550 2:223066806-223066806 2:222202087-222202087 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.1021C>T (p.Gln341Ter) SNV Likely pathogenic 547751 rs1553572740 2:223085011-223085011 2:222220292-222220292 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.921del (p.Ser308fs) deletion Likely pathogenic 547750 rs1553572946 2:223085978-223085978 2:222221259-222221259 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.210C>A (p.Cys70Ter) SNV Likely pathogenic 547732 rs1356246522 2:223161808-223161808 2:222297089-222297089 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.136dup (p.Ile46fs) duplication Likely pathogenic 547731 rs1553594009 2:223161881-223161882 2:222297162-222297163 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.86-2A>G SNV Likely pathogenic 547730 rs1553594069 2:223161934-223161934 2:222297215-222297215 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.269A>G (p.Tyr90Cys) SNV Likely pathogenic 547738 rs1553593874 2:223161749-223161749 2:222297030-222297030 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.246C>A (p.Cys82Ter) SNV Likely pathogenic 547737 rs777297575 2:223161772-223161772 2:222297053-222297053 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.232G>T (p.Val78Leu) SNV Likely pathogenic 547735 rs1553593917 2:223161786-223161786 2:222297067-222297067 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.791A>C (p.Gln264Pro) SNV Likely pathogenic 547746 rs1553575157 2:223096798-223096798 2:222232079-222232079 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.692T>C (p.Leu231Pro) SNV Likely pathogenic 547744 rs1553575191 2:223096897-223096897 2:222232178-222232178 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.530_531insCT (p.Ala177_Glu178insTer) insertion Likely pathogenic 547743 rs1553592703 2:223158941-223158942 2:222294222-222294223 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.524dup (p.Glu176fs) duplication Likely pathogenic 547742 rs1553592713 2:223158947-223158948 2:222294228-222294229 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.482_484delinsTA (p.Lys161fs) indel Likely pathogenic 547741 rs1553592757 2:223158988-223158990 2:222294269-222294271 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.452-9C>A SNV Likely pathogenic 547740 rs1379006499 2:223159029-223159029 2:222294310-222294310 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.239A>G (p.His80Arg) SNV Likely pathogenic 801902 2:223161779-223161779 2:222297060-222297060 WRD030 Waardenburg Syndrome, Type 1 MITF NM_001354604.2(MITF):c.794A>G (p.Tyr265Cys) SNV Likely pathogenic 373914 rs1057518765 3:69998233-69998233 3:69949082-69949082 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.4(SOX10):c.753G>A (p.Ser251=) SNV Conflicting interpretations of pathogenicity 341617 rs376907937 22:38370150-38370150 22:37974143-37974143 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*44T>C SNV Conflicting interpretations of pathogenicity 339128 rs200872063 20:57899558-57899558 20:59324503-59324503 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*1293T>C SNV Conflicting interpretations of pathogenicity 339161 rs536369470 20:57900807-57900807 20:59325752-59325752 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.*2167C>G SNV Conflicting interpretations of pathogenicity 312447 rs191136728 13:78470168-78470168 13:77896033-77896033 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.*2055A>G SNV Conflicting interpretations of pathogenicity 312450 rs12720204 13:78470280-78470280 13:77896145-77896145 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.1194+15C>T SNV Conflicting interpretations of pathogenicity 312469 rs886050325 13:78473979-78473979 13:77899844-77899844 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.*2258G>T SNV Conflicting interpretations of pathogenicity 312445 rs186739277 13:78470077-78470077 13:77895942-77895942 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.*1496G>A SNV Conflicting interpretations of pathogenicity 312457 rs143210700 13:78470839-78470839 13:77896704-77896704 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.*1310C>T SNV Conflicting interpretations of pathogenicity 312460 rs3027095 13:78471025-78471025 13:77896890-77896890 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.*296A>G SNV Conflicting interpretations of pathogenicity 312467 rs12720203 13:78472039-78472039 13:77897904-77897904 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.689G>A (p.Arg230His) SNV Conflicting interpretations of pathogenicity 339127 rs144250756 20:57899486-57899486 20:59324431-59324431 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.*1412C>T SNV Conflicting interpretations of pathogenicity 312459 rs202238915 13:78470923-78470923 13:77896788-77896788 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*1147A>G SNV Conflicting interpretations of pathogenicity 339158 rs3026571 20:57900661-57900661 20:59325606-59325606 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.-44C>T SNV Conflicting interpretations of pathogenicity 339120 rs368814466 20:57875824-57875824 20:59300769-59300769 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.4(SOX10):c.918C>T (p.His306=) SNV Conflicting interpretations of pathogenicity 733585 22:38369985-38369985 22:37973978-37973978 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.1248C>T (p.Thr416=) SNV Conflicting interpretations of pathogenicity 743485 2:223066835-223066835 2:222202116-222202116 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.1029G>A (p.Thr343=) SNV Conflicting interpretations of pathogenicity 739452 2:223085003-223085003 2:222220284-222220284 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) SNV Conflicting interpretations of pathogenicity 16637 rs1801710 13:78492540-78492540 13:77918405-77918405 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.580G>A (p.Glu194Lys) SNV Conflicting interpretations of pathogenicity 504786 rs148454691 2:223158892-223158892 2:222294173-222294173 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.4(SOX10):c.131C>G (p.Ala44Gly) SNV Conflicting interpretations of pathogenicity 452278 rs747377284 22:38379661-38379661 22:37983654-37983654 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.958+9G>A SNV Conflicting interpretations of pathogenicity 504759 rs185119406 2:223085932-223085932 2:222221213-222221213 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.525G>C (p.Lys175Asn) SNV Conflicting interpretations of pathogenicity 226992 rs116473352 2:223158947-223158947 2:222294228-222294228 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.944C>A (p.Thr315Lys) SNV Conflicting interpretations of pathogenicity 218940 rs2234675 2:223085955-223085955 2:222221236-222221236 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.-26G>A SNV Conflicting interpretations of pathogenicity 225346 rs2070591 13:78492734-78492734 13:77918599-77918599 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.1239C>G (p.Ser413=) SNV Conflicting interpretations of pathogenicity 255140 rs139317762 13:78472425-78472425 13:77898290-77898290 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.731C>T (p.Thr244Met) SNV Conflicting interpretations of pathogenicity 255141 rs5350 13:78477361-78477361 13:77903226-77903226 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.49C>T (p.Leu17Phe) SNV Conflicting interpretations of pathogenicity 226623 rs5346 13:78492660-78492660 13:77918525-77918525 WRD030 Waardenburg Syndrome, Type 1 SNAI2 NM_003068.5(SNAI2):c.-82C>A SNV Conflicting interpretations of pathogenicity 363272 rs11544359 8:49833906-49833906 8:48921347-48921347 WRD030 Waardenburg Syndrome, Type 1 SNAI2 NM_003068.5(SNAI2):c.-102C>A SNV Conflicting interpretations of pathogenicity 363273 rs576060545 8:49833926-49833926 8:48921367-48921367 WRD030 Waardenburg Syndrome, Type 1 SNAI2 NM_003068.5(SNAI2):c.*149C>A SNV Conflicting interpretations of pathogenicity 363261 rs529175130 8:49831217-49831217 8:48918658-48918658 WRD030 Waardenburg Syndrome, Type 1 SNAI2 NM_003068.5(SNAI2):c.606A>G (p.Gly202=) SNV Conflicting interpretations of pathogenicity 363264 rs370952195 8:49832474-49832474 8:48919915-48919915 WRD030 Waardenburg Syndrome, Type 1 SNAI2 NM_003068.5(SNAI2):c.219C>T (p.Leu73=) SNV Uncertain significance 363266 rs189890133 8:49832861-49832861 8:48920302-48920302 WRD030 Waardenburg Syndrome, Type 1 SNAI2 NM_003068.5(SNAI2):c.-9G>T SNV Uncertain significance 363268 rs201920149 8:49833833-49833833 8:48921274-48921274 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.*2309T>C SNV Uncertain significance 312444 rs200621629 13:78470026-78470026 13:77895891-77895891 WRD030 Waardenburg Syndrome, Type 1 SNAI2 NM_003068.5(SNAI2):c.-36T>A SNV Uncertain significance 363270 rs751125107 8:49833860-49833860 8:48921301-48921301 WRD030 Waardenburg Syndrome, Type 1 SNAI2 NM_003068.5(SNAI2):c.257T>C (p.Val86Ala) SNV Uncertain significance 363265 rs186986959 8:49832823-49832823 8:48920264-48920264 WRD030 Waardenburg Syndrome, Type 1 SNAI2 NM_003068.5(SNAI2):c.-77C>A SNV Uncertain significance 363271 rs566724701 8:49833901-49833901 8:48921342-48921342 WRD030 Waardenburg Syndrome, Type 1 SNAI2 NM_003068.5(SNAI2):c.*964G>A SNV Uncertain significance 363257 rs886062983 8:49830402-49830402 8:48917843-48917843 WRD030 Waardenburg Syndrome, Type 1 SNAI2 NM_003068.5(SNAI2):c.*773C>A SNV Uncertain significance 363258 rs886062984 8:49830593-49830593 8:48918034-48918034 WRD030 Waardenburg Syndrome, Type 1 SNAI2 NM_003068.5(SNAI2):c.*26C>T SNV Uncertain significance 363262 rs371076039 8:49831340-49831340 8:48918781-48918781 WRD030 Waardenburg Syndrome, Type 1 SNAI2 NM_003068.5(SNAI2):c.729C>T (p.Cys243=) SNV Uncertain significance 363263 rs886062985 8:49831444-49831444 8:48918885-48918885 WRD030 Waardenburg Syndrome, Type 1 SNAI2 NM_003068.5(SNAI2):c.*340T>G SNV Uncertain significance 363259 rs78830147 8:49831026-49831026 8:48918467-48918467 WRD030 Waardenburg Syndrome, Type 1 SNAI2 NM_003068.5(SNAI2):c.130C>A (p.Gln44Lys) SNV Uncertain significance 363267 rs886062986 8:49832950-49832950 8:48920391-48920391 WRD030 Waardenburg Syndrome, Type 1 SNAI2 NM_003068.5(SNAI2):c.-13A>T SNV Uncertain significance 363269 rs886062987 8:49833837-49833837 8:48921278-48921278 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.1420+112dup duplication Uncertain significance 334553 rs368725878 2:223066536-223066537 2:222201817-222201818 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.1420+201C>T SNV Uncertain significance 334552 rs573451372 2:223066462-223066462 2:222201743-222201743 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.1420+125T>G SNV Uncertain significance 334554 rs886055674 2:223066538-223066538 2:222201819-222201819 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.1229A>T (p.Tyr410Phe) SNV Uncertain significance 334557 rs886055675 2:223066854-223066854 2:222202135-222202135 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.1204G>A (p.Val402Ile) SNV Uncertain significance 334558 rs374318137 2:223066879-223066879 2:222202160-222202160 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.47C>T (p.Pro16Leu) SNV Uncertain significance 334562 rs886055676 2:223163288-223163288 2:222298569-222298569 WRD030 Waardenburg Syndrome, Type 1 MITF NM_001354604.2(MITF):c.*576dup duplication Uncertain significance 346515 rs59665466 3:70014965-70014966 3:69965814-69965815 WRD030 Waardenburg Syndrome, Type 1 MITF NM_001354604.2(MITF):c.*2160del deletion Uncertain significance 346535 rs565618309 3:70016559-70016559 3:69967408-69967408 WRD030 Waardenburg Syndrome, Type 1 MITF NM_001354604.2(MITF):c.*413_*416del deletion Uncertain significance 346510 rs886058810 3:70014805-70014808 3:69965654-69965657 WRD030 Waardenburg Syndrome, Type 1 MITF NM_001354604.2(MITF):c.*415_*418AAGA[2] short repeat Uncertain significance 346511 rs886058811 3:70014813-70014816 3:69965662-69965665 WRD030 Waardenburg Syndrome, Type 1 MITF NM_001354604.2(MITF):c.*574_*576dup duplication Uncertain significance 346517 rs59665466 3:70014965-70014966 3:69965814-69965815 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.1285G>A (p.Gly429Arg) SNV Uncertain significance 228662 rs144565124 13:78472379-78472379 13:77898244-77898244 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.-156C>T SNV Uncertain significance 334563 rs867534042 2:223163490-223163490 2:222298771-222298771 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.-156C>A SNV Uncertain significance 334564 rs867534042 2:223163490-223163490 2:222298771-222298771 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.-248A>C SNV Uncertain significance 334566 rs886055677 2:223163582-223163582 2:222298863-222298863 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.241G>T (p.Gly81Cys) SNV Uncertain significance 133308 rs483353059 2:223161777-223161777 2:222297058-222297058 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.818G>A (p.Arg273Lys) SNV Uncertain significance 547749 rs1020175890 2:223086081-223086081 2:222221362-222221362 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.540C>G (p.Ser180Arg) SNV Uncertain significance 504788 rs200679164 2:223158932-223158932 2:222294213-222294213 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.293C>T (p.Pro98Leu) SNV Uncertain significance 547739 rs1553593856 2:223161725-223161725 2:222297006-222297006 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.730C>T (p.Pro244Ser) SNV Uncertain significance 547745 rs1553575183 2:223096859-223096859 2:222232140-222232140 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.227T>G (p.Leu76Arg) SNV Uncertain significance 547734 rs1553593925 2:223161791-223161791 2:222297072-222297072 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.4(SOX10):c.1244C>T (p.Ser415Leu) SNV Uncertain significance 900755 22:38369659-38369659 22:37973652-37973652 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.4(SOX10):c.1111G>T (p.Asp371Tyr) SNV Uncertain significance 902431 22:38369792-38369792 22:37973785-37973785 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.4(SOX10):c.1111G>A (p.Asp371Asn) SNV Uncertain significance 902432 22:38369792-38369792 22:37973785-37973785 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.4(SOX10):c.976G>A (p.Val326Met) SNV Uncertain significance 902433 22:38369927-38369927 22:37973920-37973920 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.4(SOX10):c.628G>A (p.Ala210Thr) SNV Uncertain significance 899689 22:38373943-38373943 22:37977936-37977936 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.4(SOX10):c.202T>C (p.Phe68Leu) SNV Uncertain significance 902511 22:38379590-38379590 22:37983583-37983583 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.4(SOX10):c.135C>T (p.Ser45=) SNV Uncertain significance 902512 22:38379657-38379657 22:37983650-37983650 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.4(SOX10):c.-9G>A SNV Uncertain significance 903366 22:38379800-38379800 22:37983793-37983793 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.4(SOX10):c.-29A>G SNV Uncertain significance 903367 22:38379820-38379820 22:37983813-37983813 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.4(SOX10):c.-166C>T SNV Uncertain significance 899754 22:38380427-38380427 22:37984420-37984420 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.*3G>C SNV Uncertain significance 800739 2:223066124-223066124 2:222201405-222201405 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.1420+165G>T SNV Uncertain significance 894956 2:223066498-223066498 2:222201779-222201779 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.1420+103C>T SNV Uncertain significance 896391 2:223066560-223066560 2:222201841-222201841 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.1253G>T (p.Gly418Val) SNV Uncertain significance 896392 2:223066830-223066830 2:222202111-222202111 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.1240C>T (p.Pro414Ser) SNV Uncertain significance 898020 2:223066843-223066843 2:222202124-222202124 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.1012A>T (p.Thr338Ser) SNV Uncertain significance 899135 2:223085020-223085020 2:222220301-222220301 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.981C>T (p.Thr327=) SNV Uncertain significance 895017 2:223085051-223085051 2:222220332-222220332 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.567C>T (p.Asp189=) SNV Uncertain significance 896459 2:223158905-223158905 2:222294186-222294186 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.342G>A (p.Val114=) SNV Uncertain significance 898078 2:223160356-223160356 2:222295637-222295637 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.144C>T (p.Gly48=) SNV Uncertain significance 899204 2:223161874-223161874 2:222297155-222297155 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.-99C>T SNV Uncertain significance 895088 2:223163433-223163433 2:222298714-222298714 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.4(SOX10):c.*830G>C SNV Uncertain significance 903229 22:38368672-38368672 22:37972665-37972665 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.4(SOX10):c.*568T>A SNV Uncertain significance 899622 22:38368934-38368934 22:37972927-37972927 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.4(SOX10):c.*327G>A SNV Uncertain significance 900753 22:38369175-38369175 22:37973168-37973168 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*138_*139insCC insertion Uncertain significance 339130 rs886056876 20:57899652-57899653 20:59324597-59324598 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*139del deletion Uncertain significance 339131 rs886056877 20:57899653-57899653 20:59324598-59324598 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*144C>T SNV Uncertain significance 339136 rs886056880 20:57899658-57899658 20:59324603-59324603 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*148_*149del deletion Uncertain significance 339133 rs11475273 20:57899654-57899655 20:59324599-59324600 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*756C>T SNV Uncertain significance 339149 rs763311172 20:57900270-57900270 20:59325215-59325215 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*1111G>A SNV Uncertain significance 339157 rs886056888 20:57900625-57900625 20:59325570-59325570 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*1255C>T SNV Uncertain significance 339159 rs12322 20:57900769-57900769 20:59325714-59325714 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.2(EDN3):c.-359T>A SNV Uncertain significance 339113 rs886056871 20:57875509-57875509 20:59300454-59300454 WRD030 Waardenburg Syndrome, Type 1 SNAI2 NM_003068.5(SNAI2):c.*334T>G SNV Uncertain significance 363260 rs577991090 8:49831032-49831032 8:48918473-48918473 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.43T>G (p.Ser15Ala) SNV Uncertain significance 339121 rs374697035 20:57875910-57875910 20:59300855-59300855 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.3(SOX10):c.*1179G>A SNV Uncertain significance 341607 rs749495956 22:38368323-38368323 22:37972316-37972316 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*586G>A SNV Uncertain significance 339146 rs886056884 20:57900100-57900100 20:59325045-59325045 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*679A>G SNV Uncertain significance 339148 rs886056885 20:57900193-57900193 20:59325138-59325138 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*904A>G SNV Uncertain significance 339152 rs886056887 20:57900418-57900418 20:59325363-59325363 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*571A>G SNV Uncertain significance 339144 rs886056882 20:57900085-57900085 20:59325030-59325030 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*585C>T SNV Uncertain significance 339145 rs886056883 20:57900099-57900099 20:59325044-59325044 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.*1514G>T SNV Uncertain significance 312455 rs201845371 13:78470821-78470821 13:77896686-77896686 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.*1513G>C SNV Uncertain significance 312456 rs200042120 13:78470822-78470822 13:77896687-77896687 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*147C>G SNV Uncertain significance 339139 rs576673862 20:57899661-57899661 20:59324606-59324606 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.*1260G>A SNV Uncertain significance 312461 rs886050323 13:78471075-78471075 13:77896940-77896940 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.*859C>T SNV Uncertain significance 312465 rs886050324 13:78471476-78471476 13:77897341-77897341 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.*585G>C SNV Uncertain significance 312466 rs201012049 13:78471750-78471750 13:77897615-77897615 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.318T>C (p.Val106=) SNV Uncertain significance 312472 rs200777477 13:78492391-78492391 13:77918256-77918256 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.-85G>A SNV Uncertain significance 339118 rs886056873 20:57875783-57875783 20:59300728-59300728 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.257A>G (p.Glu86Gly) SNV Uncertain significance 339122 rs761348961 20:57876669-57876669 20:59301614-59301614 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*139_*140del deletion Uncertain significance 339132 rs1555850390 20:57899653-57899654 20:59324598-59324599 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*96G>A SNV Uncertain significance 339129 rs886056875 20:57899610-57899610 20:59324555-59324555 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*145C>A SNV Uncertain significance 339137 rs886056881 20:57899659-57899659 20:59324604-59324604 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*831G>A SNV Uncertain significance 339150 rs886056886 20:57900345-57900345 20:59325290-59325290 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*1271A>G SNV Uncertain significance 339160 rs886056889 20:57900785-57900785 20:59325730-59325730 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.*2426A>C SNV Uncertain significance 312442 rs886050318 13:78469909-78469909 13:77895774-77895774 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.*2165C>T SNV Uncertain significance 312448 rs201086847 13:78470170-78470170 13:77896035-77896035 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.*1860T>G SNV Uncertain significance 312452 rs886050321 13:78470475-78470475 13:77896340-77896340 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.777C>T (p.Pro259=) SNV Uncertain significance 312471 rs375637651 13:78477315-78477315 13:77903180-77903180 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.*2219A>G SNV Uncertain significance 312446 rs200177379 13:78470116-78470116 13:77895981-77895981 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.*1474G>A SNV Uncertain significance 312458 rs886050322 13:78470861-78470861 13:77896726-77896726 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.*918_*921del deletion Uncertain significance 312463 rs760796267 13:78471414-78471417 13:77897279-77897282 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.*179G>A SNV Uncertain significance 312468 rs201848931 13:78472156-78472156 13:77898021-77898021 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.1139G>C (p.Cys380Ser) SNV Uncertain significance 312470 rs200939685 13:78474049-78474049 13:77899914-77899914 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.2(EDN3):c.-268G>C SNV Uncertain significance 339114 rs868738564 20:57875600-57875600 20:59300545-59300545 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.-164G>A SNV Uncertain significance 339116 rs749699689 20:57875704-57875704 20:59300649-59300649 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.-120C>T SNV Uncertain significance 339117 rs886056872 20:57875748-57875748 20:59300693-59300693 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.543-7C>T SNV Uncertain significance 339125 rs886056874 20:57897420-57897420 20:59322365-59322365 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.688C>T (p.Arg230Cys) SNV Uncertain significance 339126 rs372958987 20:57899485-57899485 20:59324430-59324430 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.*2064T>G SNV Uncertain significance 312449 rs200431243 13:78470271-78470271 13:77896136-77896136 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.*1906G>A SNV Uncertain significance 312451 rs886050320 13:78470429-78470429 13:77896294-77896294 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.*2355T>C SNV Uncertain significance 312443 rs886050319 13:78469980-78469980 13:77895845-77895845 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.*1662T>C SNV Uncertain significance 312453 rs202174312 13:78470673-78470673 13:77896538-77896538 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.*1131T>C SNV Uncertain significance 312462 rs142394468 13:78471204-78471204 13:77897069-77897069 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*1398C>T SNV Uncertain significance 339162 rs886056890 20:57900912-57900912 20:59325857-59325857 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*143C>T SNV Uncertain significance 339135 rs71321536 20:57899657-57899657 20:59324602-59324602 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.3(SOX10):c.*643A>G SNV Uncertain significance 341612 rs886057493 22:38368859-38368859 22:37972852-37972852 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.3(SOX10):c.746T>A (p.Leu249Gln) SNV Uncertain significance 341618 rs886057495 22:38370157-38370157 22:37974150-37974150 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.3(SOX10):c.585C>T (p.Ala195=) SNV Uncertain significance 341619 rs751780784 22:38373986-38373986 22:37977979-37977979 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.3(SOX10):c.-63A>G SNV Uncertain significance 341623 rs886057496 22:38379854-38379854 22:37983847-37983847 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.3(SOX10):c.*712G>T SNV Uncertain significance 341610 rs377420828 22:38368790-38368790 22:37972783-37972783 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.3(SOX10):c.*158A>G SNV Uncertain significance 341615 rs886057494 22:38369344-38369344 22:37973337-37973337 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.3(SOX10):c.906G>A (p.Pro302=) SNV Uncertain significance 341616 rs774324385 22:38369997-38369997 22:37973990-37973990 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_001301130.2(POLR2F):c.293+5240_293+5241del short repeat Likely benign 341608 rs577740783 22:38368415-38368416 22:37972408-37972409 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.*903G>A SNV Likely benign 312464 rs9600947 13:78471432-78471432 13:77897297-77897297 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.*1546A>G SNV Likely benign 312454 rs3027094 13:78470789-78470789 13:77896654-77896654 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*177C>A SNV Likely benign 339141 rs11570354 20:57899691-57899691 20:59324636-59324636 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*355A>G SNV Likely benign 339142 rs79786751 20:57899869-57899869 20:59324814-59324814 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*531A>G SNV Likely benign 339143 rs11570355 20:57900045-57900045 20:59324990-59324990 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.3(SOX10):c.*932G>A SNV Likely benign 341609 rs8141371 22:38368570-38368570 22:37972563-37972563 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*962C>T SNV Likely benign 339155 rs138371508 20:57900476-57900476 20:59325421-59325421 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.2(EDN3):c.-248G>A SNV Likely benign 339115 rs542818479 20:57875620-57875620 20:59300565-59300565 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*143C>A SNV Likely benign 339134 rs71321536 20:57899657-57899657 20:59324602-59324602 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.1195C>G (p.His399Asp) SNV Likely benign 488039 rs1553568937 2:223066888-223066888 2:222202169-222202169 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.3(SOX10):c.975C>T (p.Ala325=) SNV Likely benign 514334 rs760496644 22:38369928-38369928 22:37973921-37973921 WRD030 Waardenburg Syndrome, Type 1 MITF NM_001354604.2(MITF):c.*2159dup duplication Likely benign 346534 rs550555819 3:70016551-70016552 3:69967400-69967401 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.1118C>T (p.Pro373Leu) SNV Benign/Likely benign 334559 rs200701839 2:223084914-223084914 2:222220195-222220195 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.*1767C>T SNV Benign/Likely benign 226627 rs3027092 13:78470568-78470568 13:77896433-77896433 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.879G>T (p.Gly293=) SNV Benign/Likely benign 226997 rs45522331 2:223086020-223086020 2:222221301-222221301 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.873C>T (p.Pro291=) SNV Benign/Likely benign 226996 rs141545923 2:223086026-223086026 2:222221307-222221307 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.525A>G (p.Gln175=) SNV Benign/Likely benign 226621 rs34780366 20:57896231-57896231 20:59321176-59321176 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.565dup (p.Thr189fs) duplication Benign/Likely benign 227351 rs11570344 20:57897443-57897444 20:59322388-59322389 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.4(SOX10):c.822C>T (p.Gly274=) SNV Benign/Likely benign 227960 rs147334218 22:38370081-38370081 22:37974074-37974074 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.4(SOX10):c.428+10C>G SNV Benign/Likely benign 227080 rs201638602 22:38379354-38379354 22:37983347-37983347 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.4(SOX10):c.249C>T (p.Tyr83=) SNV Benign/Likely benign 227079 rs73415876 22:38379543-38379543 22:37983536-37983536 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.4(SOX10):c.274G>C (p.Val92Leu) SNV Benign/Likely benign 702405 22:38379518-38379518 22:37983511-37983511 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*915C>T SNV Benign/Likely benign 339153 rs11570357 20:57900429-57900429 20:59325374-59325374 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*957C>T SNV Benign/Likely benign 339154 rs3026572 20:57900471-57900471 20:59325416-59325416 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.-77T>A SNV Benign/Likely benign 339119 rs11570254 20:57875791-57875791 20:59300736-59300736 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.426G>A (p.Ala142=) SNV Benign/Likely benign 339124 rs187049336 20:57896132-57896132 20:59321077-59321077 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.4(SOX10):c.122G>T (p.Gly41Val) SNV Benign/Likely benign 341622 rs199750760 22:38379670-38379670 22:37983663-37983663 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*1012C>T SNV Benign/Likely benign 339156 rs11570358 20:57900526-57900526 20:59325471-59325471 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*600A>G SNV Benign/Likely benign 339147 rs11570356 20:57900114-57900114 20:59325059-59325059 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*171G>A SNV Benign/Likely benign 339140 rs3026575 20:57899685-57899685 20:59324630-59324630 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*146C>T SNV Benign/Likely benign 339138 rs11570352 20:57899660-57899660 20:59324605-59324605 WRD030 Waardenburg Syndrome, Type 1 EDN3 NM_207034.3(EDN3):c.*864C>G SNV Benign/Likely benign 339151 rs3026573 20:57900378-57900378 20:59325323-59325323 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.3(SOX10):c.507G>A (p.Pro169=) SNV Benign/Likely benign 341620 rs199703563 22:38374064-38374064 22:37978057-37978057 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.3(SOX10):c.429-12A>G SNV Benign 341621 rs753723642 22:38374154-38374154 22:37978147-37978147 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.3(SOX10):c.*537G>C SNV Benign 341613 rs565069012 22:38368965-38368965 22:37972958-37972958 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.3(SOX10):c.*475G>A SNV Benign 341614 rs139883 22:38369027-38369027 22:37973020-37973020 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.3(SOX10):c.*711C>T SNV Benign 341611 rs60962899 22:38368791-38368791 22:37972784-37972784 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.4(SOX10):c.*27G>A SNV Benign 900754 22:38369475-38369475 22:37973468-37973468 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.1420+186G>A SNV Benign 894955 2:223066477-223066477 2:222201758-222201758 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.4(SOX10):c.18C>T (p.Asp6=) SNV Benign 227078 rs149435516 22:38379774-38379774 22:37983767-37983767 WRD030 Waardenburg Syndrome, Type 1 SOX10 NM_006941.4(SOX10):c.927T>C (p.His309=) SNV Benign 227081 rs139884 22:38369976-38369976 22:37973969-37973969 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.1420+220C>T SNV Benign 334551 rs45624434 2:223066443-223066443 2:222201724-222201724 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.126C>A (p.Gly42=) SNV Benign 334561 rs369680052 2:223161892-223161892 2:222297173-222297173 WRD030 Waardenburg Syndrome, Type 1 EDNRB NM_001122659.3(EDNRB):c.831A>G (p.Leu277=) SNV Benign 226622 rs5351 13:78475313-78475313 13:77901178-77901178 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.321+10C>A SNV Benign 226995 rs140960868 2:223161687-223161687 2:222296968-222296968 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.156C>G (p.Pro52=) SNV Benign 226994 rs28945092 2:223161862-223161862 2:222297143-222297143 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.129T>C (p.Gly43=) SNV Benign 195432 rs12623857 2:223161889-223161889 2:222297170-222297170 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.1174-10G>C SNV Benign 226998 rs2855268 2:223066919-223066919 2:222202200-222202200 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.1003C>T (p.Pro335Ser) SNV Benign 226993 rs151199924 2:223085029-223085029 2:222220310-222220310 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.807C>T (p.Asn269=) SNV Benign 334560 rs45501393 2:223086092-223086092 2:222221373-222221373 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.-205C>T SNV Benign 334565 rs565554258 2:223163539-223163539 2:222298820-222298820 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.-359G>T SNV Benign 334567 rs45501095 2:223163693-223163693 2:222298974-222298974 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.1420+55C>T SNV Benign 334556 rs186207055 2:223066608-223066608 2:222201889-222201889 WRD030 Waardenburg Syndrome, Type 1 PAX3 NM_181458.4(PAX3):c.1420+104G>A SNV Benign 334555 rs142988099 2:223066559-223066559 2:222201840-222201840 WRD030 Waardenburg Syndrome, Type 1 MITF NM_001354604.2(MITF):c.*575_*576dup duplication Benign 346516 rs59665466 3:70014965-70014966 3:69965814-69965815 WRD030 Waardenburg Syndrome, Type 1 GRIA3 NM_007325.5(GRIA3):c.2327C>T (p.Thr776Met) SNV Pathogenic 625211 X:122613916-122613916 X:123480065-123480065 WST001 West Syndrome RALGAPA1 NM_014990.3(RALGAPA1):c.1126C>T (p.Arg376Ter) SNV Pathogenic 691794 14:36217916-36217916 14:35748710-35748710 WST001 West Syndrome RALGAPA1 NM_014990.3(RALGAPA1):c.4992del (p.Phe1664fs) deletion Pathogenic 691795 14:36096643-36096643 14:35627437-35627437 WST001 West Syndrome RALGAPA1 NM_014990.3(RALGAPA1):c.610G>T (p.Glu204Ter) SNV Pathogenic 691796 14:36226052-36226052 14:35756846-35756846 WST001 West Syndrome RALGAPA1 NM_014990.3(RALGAPA1):c.5732C>G (p.Ser1911Ter) SNV Pathogenic 691797 14:36041884-36041884 14:35572678-35572678 WST001 West Syndrome RALGAPA1 NM_014990.3(RALGAPA1):c.3227A>G (p.Asn1076Ser) SNV Pathogenic 691798 14:36143795-36143795 14:35674589-35674589 WST001 West Syndrome TSC2 NM_000548.5(TSC2):c.4662+1G>A SNV Pathogenic 50031 rs45514095 16:2135324-2135324 16:2085323-2085323 WST001 West Syndrome STXBP1 NM_003165.4(STXBP1):c.364C>T (p.Arg122Ter) SNV Pathogenic 198157 rs794727792 9:130423419-130423419 9:127661140-127661140 WST001 West Syndrome PTEN NM_000314.7(PTEN):c.203A>G (p.Tyr68Cys) SNV Pathogenic 233777 rs876660634 10:89685308-89685308 10:87925551-87925551 WST001 West Syndrome CDKL5 NM_001323289.2(CDKL5):c.99+1G>T SNV Likely pathogenic 156097 rs267608421 X:18528975-18528975 X:18510855-18510855 WST001 West Syndrome ALG13 NM_001099922.3(ALG13):c.50T>A (p.Ile17Asn) SNV Likely pathogenic 598969 rs1569508922 X:110924496-110924496 X:111681268-111681268 WST001 West Syndrome KDM2B NM_032590.5(KDM2B):c.3050G>A (p.Arg1017His) SNV Likely pathogenic 242896 rs782304760 12:121880194-121880194 12:121442391-121442391 WST001 West Syndrome MLLT1 NM_005934.4(MLLT1):c.1418G>A (p.Arg473Gln) SNV Likely pathogenic 242890 rs749203329 19:6213798-6213798 19:6213787-6213787 WST001 West Syndrome CDKL5 NM_001323289.2(CDKL5):c.1238C>A (p.Ser413Ter) SNV Likely pathogenic 547185 rs267608618 X:18622282-18622282 X:18604162-18604162 WST001 West Syndrome CDKL5 NM_001323289.2(CDKL5):c.1596del (p.Thr533fs) deletion Likely pathogenic 547187 rs1555952078 X:18622636-18622636 X:18604516-18604516 WST001 West Syndrome CDKL5 NM_001323289.2(CDKL5):c.2480_2486dup (p.Gln830fs) duplication Likely pathogenic 547188 rs1555954752 X:18643344-18643345 X:18625224-18625225 WST001 West Syndrome SCN8A NM_001330260.2(SCN8A):c.4922T>G (p.Leu1641Arg) SNV Likely pathogenic 812774 12:52200192-52200192 12:51806408-51806408 WST001 West Syndrome SCN2A NM_001040142.2(SCN2A):c.685T>A (p.Ser229Thr) SNV Likely pathogenic 834051 2:166165941-166165941 2:165309431-165309431 WST001 West Syndrome POLG NM_002693.2(POLG):c.3242G>A (p.Arg1081Gln) SNV Conflicting interpretations of pathogenicity 458712 rs140079523 15:89862193-89862193 15:89318962-89318962 WST001 West Syndrome DYNC1H1 NM_001376.5(DYNC1H1):c.9930G>A (p.Met3310Ile) SNV Uncertain significance 523440 rs1555411304 14:102498655-102498655 14:102032318-102032318 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.554G>A (p.Arg185His) SNV Uncertain significance 541751 rs1364487885 10:98416568-98416568 10:96656811-96656811 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1670-3T>C SNV Uncertain significance 541752 rs567983975 10:98383297-98383297 10:96623540-96623540 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.917A>G (p.Lys306Arg) SNV Uncertain significance 541750 rs539294987 10:98411076-98411076 10:96651319-96651319 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.2015-6T>A SNV Uncertain significance 541748 rs775761112 10:98369630-98369630 10:96609873-96609873 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.2108T>C (p.Ile703Thr) SNV Uncertain significance 541747 rs1554952901 10:98369531-98369531 10:96609774-96609774 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.854A>G (p.Gln285Arg) SNV Uncertain significance 541744 rs1440323214 10:98411267-98411267 10:96651510-96651510 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.2273G>A (p.Arg758His) SNV Uncertain significance 541746 rs765634361 10:98362124-98362124 10:96602367-96602367 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.2294T>C (p.Val765Ala) SNV Uncertain significance 474926 rs1164907557 10:98362103-98362103 10:96602346-96602346 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.113G>T (p.Arg38Leu) SNV Uncertain significance 474913 rs770855063 10:98469641-98469641 10:96709884-96709884 WST001 West Syndrome PIK3AP1 NC_000010.10:g.(?_98399836)_(98405338_?)dup duplication Uncertain significance 474910 10:98399836-98405338 10:96640079-96645581 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.2084A>T (p.Glu695Val) SNV Uncertain significance 474920 rs1460674779 10:98369555-98369555 10:96609798-96609798 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.182T>A (p.Phe61Tyr) SNV Uncertain significance 661417 10:98469572-98469572 10:96709815-96709815 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.2177C>T (p.Thr726Ile) SNV Uncertain significance 642249 10:98363800-98363800 10:96604043-96604043 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.2065G>A (p.Val689Met) SNV Uncertain significance 655116 10:98369574-98369574 10:96609817-96609817 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1998dup (p.Ser667fs) duplication Uncertain significance 642150 10:98376411-98376412 10:96616654-96616655 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1555G>A (p.Asp519Asn) SNV Uncertain significance 653446 10:98386579-98386579 10:96626822-96626822 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1544C>T (p.Thr515Met) SNV Uncertain significance 639225 10:98386590-98386590 10:96626833-96626833 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.887C>T (p.Thr296Ile) SNV Uncertain significance 646076 10:98411106-98411106 10:96651349-96651349 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.568G>A (p.Ala190Thr) SNV Uncertain significance 655567 10:98412599-98412599 10:96652842-96652842 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.280C>T (p.Pro94Ser) SNV Uncertain significance 664673 10:98469474-98469474 10:96709717-96709717 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.239A>C (p.His80Pro) SNV Uncertain significance 658752 10:98469515-98469515 10:96709758-96709758 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.13+3G>A SNV Uncertain significance 652145 10:98480136-98480136 10:96720379-96720379 WST001 West Syndrome CDKL5 NM_001323289.2(CDKL5):c.378C>G (p.Cys126Trp) SNV Uncertain significance 560635 rs1569213910 X:18598063-18598063 X:18579943-18579943 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.2177C>G (p.Thr726Arg) SNV Uncertain significance 578637 rs113976248 10:98363800-98363800 10:96604043-96604043 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1433G>A (p.Arg478Gln) SNV Uncertain significance 574725 rs760805333 10:98388193-98388193 10:96628436-96628436 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.664A>T (p.Met222Leu) SNV Uncertain significance 576462 rs774215325 10:98412503-98412503 10:96652746-96652746 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.645G>A (p.Glu215=) SNV Uncertain significance 574572 rs752098964 10:98412522-98412522 10:96652765-96652765 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.508C>A (p.Pro170Thr) SNV Uncertain significance 582895 rs150666185 10:98416614-98416614 10:96656857-96656857 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1234G>A (p.Gly412Arg) SNV Uncertain significance 576458 rs760007926 10:98405371-98405371 10:96645614-96645614 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.118del (p.Gln40fs) deletion Uncertain significance 579840 rs1564991748 10:98469636-98469636 10:96709879-96709879 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1931G>A (p.Arg644His) SNV Uncertain significance 565876 rs771872937 10:98380119-98380119 10:96620362-96620362 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1805C>T (p.Thr602Met) SNV Uncertain significance 572190 rs1018719222 10:98380245-98380245 10:96620488-96620488 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1545G>A (p.Thr515=) SNV Uncertain significance 579458 rs375373941 10:98386589-98386589 10:96626832-96626832 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1499A>G (p.Glu500Gly) SNV Uncertain significance 569316 rs185079778 10:98386635-98386635 10:96626878-96626878 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.691A>G (p.Thr231Ala) SNV Uncertain significance 578581 rs201805846 10:98412476-98412476 10:96652719-96652719 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.31G>A (p.Asp11Asn) SNV Uncertain significance 579927 rs138344015 10:98469723-98469723 10:96709966-96709966 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1664T>C (p.Phe555Ser) SNV Uncertain significance 574785 rs781326320 10:98386470-98386470 10:96626713-96626713 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.800A>G (p.Glu267Gly) SNV Uncertain significance 576120 rs200224557 10:98411321-98411321 10:96651564-96651564 WST001 West Syndrome NR2F1 NM_005654.6(NR2F1):c.265T>C (p.Cys89Arg) SNV Uncertain significance 599002 rs1561523716 5:92920994-92920994 5:93585288-93585288 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.2354C>T (p.Ser785Leu) SNV Uncertain significance 847053 10:98362043-98362043 10:96602286-96602286 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.2035A>G (p.Ile679Val) SNV Uncertain significance 851691 10:98369604-98369604 10:96609847-96609847 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1915C>T (p.Arg639Ter) SNV Uncertain significance 844810 10:98380135-98380135 10:96620378-96620378 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1793C>T (p.Ala598Val) SNV Uncertain significance 842539 10:98380257-98380257 10:96620500-96620500 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1676C>T (p.Ala559Val) SNV Uncertain significance 839851 10:98383288-98383288 10:96623531-96623531 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1669G>A (p.Val557Ile) SNV Uncertain significance 841869 10:98386465-98386465 10:96626708-96626708 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1483G>A (p.Gly495Arg) SNV Uncertain significance 848940 10:98386651-98386651 10:96626894-96626894 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1342G>C (p.Ala448Pro) SNV Uncertain significance 835370 10:98405263-98405263 10:96645506-96645506 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1301C>T (p.Ser434Leu) SNV Uncertain significance 841470 10:98405304-98405304 10:96645547-96645547 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1243G>C (p.Ala415Pro) SNV Uncertain significance 846635 10:98405362-98405362 10:96645605-96645605 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1218A>C (p.Lys406Asn) SNV Uncertain significance 860990 10:98405387-98405387 10:96645630-96645630 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.980T>C (p.Met327Thr) SNV Uncertain significance 841841 10:98411013-98411013 10:96651256-96651256 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.937G>A (p.Gly313Arg) SNV Uncertain significance 862410 10:98411056-98411056 10:96651299-96651299 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.807T>G (p.Ile269Met) SNV Uncertain significance 836801 10:98411314-98411314 10:96651557-96651557 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.796A>G (p.Met266Val) SNV Uncertain significance 851312 10:98411325-98411325 10:96651568-96651568 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.679G>C (p.Glu227Gln) SNV Uncertain significance 857710 10:98412488-98412488 10:96652731-96652731 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.620C>T (p.Ala207Val) SNV Uncertain significance 856725 10:98412547-98412547 10:96652790-96652790 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.382G>C (p.Asp128His) SNV Uncertain significance 842865 10:98469372-98469372 10:96709615-96709615 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.113G>A (p.Arg38His) SNV Uncertain significance 858320 10:98469641-98469641 10:96709884-96709884 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.103C>T (p.Arg35Trp) SNV Uncertain significance 836629 10:98469651-98469651 10:96709894-96709894 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.2242-3T>C SNV Uncertain significance 844080 10:98362158-98362158 10:96602401-96602401 WST001 West Syndrome SCN1A NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly) SNV Uncertain significance 68671 rs121918802 2:166847915-166847915 2:165991405-165991405 WST001 West Syndrome STXBP1 NM_003165.4(STXBP1):c.1004C>T (p.Pro335Leu) SNV Uncertain significance 94116 rs398123695 9:130434370-130434370 9:127672091-127672091 WST001 West Syndrome SCN1A NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile) SNV Likely benign 68638 rs121918808 2:166850674-166850674 2:165994164-165994164 WST001 West Syndrome CDKL5 NM_001323289.2(CDKL5):c.1344G>A (p.Met448Ile) SNV Likely benign 547186 rs1555952013 X:18622388-18622388 X:18604268-18604268 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.2335G>A (p.Val779Met) SNV Likely benign 707691 10:98362062-98362062 10:96602305-96602305 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1693C>T (p.Arg565Trp) SNV Likely benign 707152 10:98383271-98383271 10:96623514-96623514 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1650C>T (p.Asn550=) SNV Likely benign 774373 10:98386484-98386484 10:96626727-96626727 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.729C>T (p.Asn243=) SNV Likely benign 767389 10:98411392-98411392 10:96651635-96651635 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1730G>C (p.Arg577Thr) SNV Likely benign 790136 10:98383234-98383234 10:96623477-96623477 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.2238C>T (p.Asn746=) SNV Likely benign 725356 10:98363739-98363739 10:96603982-96603982 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.831G>A (p.Ala277=) SNV Likely benign 729896 10:98411290-98411290 10:96651533-96651533 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.405A>G (p.Ala135=) SNV Likely benign 728045 10:98469349-98469349 10:96709592-96709592 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.201C>T (p.Val67=) SNV Likely benign 757900 10:98469553-98469553 10:96709796-96709796 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1495C>T (p.Leu499=) SNV Likely benign 474914 rs199720844 10:98386639-98386639 10:96626882-96626882 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.2251G>T (p.Val751Phe) SNV Likely benign 474925 rs147376017 10:98362146-98362146 10:96602389-96602389 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1728C>T (p.Ile576=) SNV Likely benign 541758 rs1554954774 10:98383236-98383236 10:96623479-96623479 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.774C>T (p.Thr258=) SNV Likely benign 541755 rs199687287 10:98411347-98411347 10:96651590-96651590 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.217G>T (p.Ala73Ser) SNV Likely benign 474923 rs146527410 10:98469537-98469537 10:96709780-96709780 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.153C>T (p.Ala51=) SNV Likely benign 474916 rs1554963337 10:98469601-98469601 10:96709844-96709844 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1744G>A (p.Val582Ile) SNV Likely benign 541745 rs201358424 10:98380306-98380306 10:96620549-96620549 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1412T>A (p.Ile471Asn) SNV Likely benign 541753 rs145525421 10:98388214-98388214 10:96628457-96628457 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.936C>T (p.Ser312=) SNV Likely benign 541754 rs763294320 10:98411057-98411057 10:96651300-96651300 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1370A>G (p.Asp457Gly) SNV Likely benign 541749 rs138047705 10:98405235-98405235 10:96645478-96645478 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1302G>A (p.Ser434=) SNV Likely benign 541759 rs140843691 10:98405303-98405303 10:96645546-96645546 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.2186G>A (p.Arg729His) SNV Benign 474924 rs569632623 10:98363791-98363791 10:96604034-96604034 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1551T>C (p.Asp517=) SNV Benign 541760 rs142087930 10:98386583-98386583 10:96626826-96626826 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1735G>A (p.Gly579Arg) SNV Benign 541757 rs144966728 10:98383229-98383229 10:96623472-96623472 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.2076A>G (p.Gly692=) SNV Benign 474919 rs141067860 10:98369563-98369563 10:96609806-96609806 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1506T>C (p.Asp502=) SNV Benign 474915 rs74496843 10:98386628-98386628 10:96626871-96626871 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.861T>C (p.Phe287=) SNV Benign 474933 rs138990701 10:98411132-98411132 10:96651375-96651375 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.828C>T (p.Ala276=) SNV Benign 474932 rs35668691 10:98411293-98411293 10:96651536-96651536 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.767G>A (p.Cys256Tyr) SNV Benign 474931 rs141221035 10:98411354-98411354 10:96651597-96651597 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.20C>T (p.Pro7Leu) SNV Benign 474921 rs73334383 10:98469734-98469734 10:96709977-96709977 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.2171-7C>T SNV Benign 474922 rs111902593 10:98363813-98363813 10:96604056-96604056 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.471C>T (p.Asp157=) SNV Benign 474930 rs117500254 10:98416651-98416651 10:96656894-96656894 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.2379C>T (p.Thr793=) SNV Benign 474928 rs201824606 10:98355373-98355373 10:96595616-96595616 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1092G>A (p.Ala364=) SNV Benign 474912 rs35035564 10:98408509-98408509 10:96648752-96648752 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.2337G>A (p.Val779=) SNV Benign 474927 rs145459703 10:98362060-98362060 10:96602303-96602303 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1806G>A (p.Thr602=) SNV Benign 474918 rs147512410 10:98380244-98380244 10:96620487-96620487 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.1651G>A (p.Glu551Lys) SNV Benign 474917 rs3748233 10:98386483-98386483 10:96626726-96626726 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.975A>G (p.Glu325=) SNV Benign 474934 rs34642975 10:98411018-98411018 10:96651261-96651261 WST001 West Syndrome PIK3AP1 NM_152309.3(PIK3AP1):c.387G>A (p.Glu129=) SNV Benign 474929 rs149682608 10:98469367-98469367 10:96709610-96709610 WST001 West Syndrome GAD1 NM_000817.3(GAD1):c.80C>A (p.Thr27Lys) SNV Benign 560641 rs77655188 2:171675181-171675181 2:170818671-170818671 WST001 West Syndrome CDKL5 NM_003159.2(CDKL5):c.2995G>A (p.Val999Met) SNV Benign 94110 rs35693326 X:18671566-18671566 X:18653446-18653446 WST001 West Syndrome PRKAG2 NM_016203.4(PRKAG2):c.547G>A (p.Glu183Lys) SNV Pathogenic 430968 rs1131692281 7:151372643-151372643 7:151675557-151675557 WLF001 Wolff-Parkinson-White Syndrome TBX20 NM_001077653.2(TBX20):c.995del (p.Pro332fs) deletion Pathogenic 438266 rs1554284604 7:35244090-35244090 7:35204478-35204478 WLF001 Wolff-Parkinson-White Syndrome SLC26A4 NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) SNV Pathogenic 4839 rs111033205 7:107302171-107302171 7:107661726-107661726 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) SNV Pathogenic 6846 rs121908987 7:151273498-151273498 7:151576412-151576412 WLF001 Wolff-Parkinson-White Syndrome KCNQ1 NM_181798.1(KCNQ1):c.343G>A (p.Asp115Asn) SNV Pathogenic 53090 rs199472712 11:2593283-2593283 11:2572053-2572053 WLF001 Wolff-Parkinson-White Syndrome MYH7 NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) SNV Pathogenic/Likely pathogenic 42901 rs3218716 14:23894525-23894525 14:23425316-23425316 WLF001 Wolff-Parkinson-White Syndrome TNNT2 NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu) SNV Pathogenic/Likely pathogenic 177807 rs727504331 1:201334370-201334370 1:201365242-201365242 WLF001 Wolff-Parkinson-White Syndrome ABCC9 NM_005691.3(ABCC9):c.2019+2T>C SNV Likely pathogenic 487597 rs1555100687 12:22035698-22035698 12:21882764-21882764 WLF001 Wolff-Parkinson-White Syndrome ACTC1 NM_005159.5(ACTC1):c.524_525insC (p.Ala176fs) insertion Likely pathogenic 487625 rs1555418832 15:35084700-35084701 15:34792499-34792500 WLF001 Wolff-Parkinson-White Syndrome CASQ2 NM_001232.3(CASQ2):c.2T>C (p.Met1Thr) SNV Likely pathogenic 452250 rs1553197939 1:116311161-116311161 1:115768540-115768540 WLF001 Wolff-Parkinson-White Syndrome TNNT2 NM_001276345.2(TNNT2):c.3G>A (p.Met1Ile) SNV Likely pathogenic 487631 rs1289914935 1:201342380-201342380 1:201373252-201373252 WLF001 Wolff-Parkinson-White Syndrome TTN NM_001267550.2(TTN):c.66904C>T (p.Leu22302=) SNV Likely pathogenic 487595 rs1553624186 2:179445202-179445202 2:178580475-178580475 WLF001 Wolff-Parkinson-White Syndrome TTN NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter) SNV Likely pathogenic 223300 rs869312065 2:179413670-179413670 2:178548943-178548943 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.981A>G (p.Leu327=) SNV Conflicting interpretations of pathogenicity 227880 rs764162597 7:151272001-151272001 7:151574915-151574915 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.429G>A (p.Ser143=) SNV Conflicting interpretations of pathogenicity 359346 rs757727533 7:151478275-151478275 7:151781189-151781189 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.248C>T (p.Pro83Leu) SNV Conflicting interpretations of pathogenicity 359348 rs757900380 7:151478456-151478456 7:151781370-151781370 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.138G>A (p.Pro46=) SNV Conflicting interpretations of pathogenicity 359351 rs767613486 7:151483604-151483604 7:151786518-151786518 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*135T>C SNV Conflicting interpretations of pathogenicity 359340 rs184932311 7:151254152-151254152 7:151557066-151557066 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*572G>A SNV Conflicting interpretations of pathogenicity 359334 rs78192883 7:151253715-151253715 7:151556629-151556629 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.3(PRKAG2):c.-520C>T SNV Conflicting interpretations of pathogenicity 359364 rs73160072 7:151574225-151574225 7:151877140-151877140 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.-16A>G SNV Conflicting interpretations of pathogenicity 359352 rs200468798 7:151573721-151573721 7:151876636-151876636 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.-287C>G SNV Conflicting interpretations of pathogenicity 359359 rs75059373 7:151573992-151573992 7:151876907-151876907 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.750C>T (p.Asp250=) SNV Conflicting interpretations of pathogenicity 378428 rs201735117 7:151329159-151329159 7:151632073-151632073 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.88A>C (p.Arg30=) SNV Conflicting interpretations of pathogenicity 465343 rs756923555 7:151573618-151573618 7:151876533-151876533 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.432C>T (p.Pro144=) SNV Conflicting interpretations of pathogenicity 520278 rs764742900 7:151478272-151478272 7:151781186-151781186 WLF001 Wolff-Parkinson-White Syndrome NODAL NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) SNV Conflicting interpretations of pathogenicity 8269 rs121909283 10:72195155-72195155 10:70435399-70435399 WLF001 Wolff-Parkinson-White Syndrome MYH7 NM_000257.4(MYH7):c.728G>A (p.Arg243His) SNV Conflicting interpretations of pathogenicity 14126 rs267606910 14:23900798-23900798 14:23431589-23431589 WLF001 Wolff-Parkinson-White Syndrome MYH6 NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) SNV Conflicting interpretations of pathogenicity 14151 rs143978652 14:23862646-23862646 14:23393437-23393437 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.912G>A (p.Ala304=) SNV Conflicting interpretations of pathogenicity 45738 rs145029525 7:151273491-151273491 7:151576405-151576405 WLF001 Wolff-Parkinson-White Syndrome MYBPC3 NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) SNV Conflicting interpretations of pathogenicity 36601 rs193922377 11:47364602-47364602 11:47343051-47343051 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=) SNV Conflicting interpretations of pathogenicity 36696 rs148197254 7:151257695-151257695 7:151560609-151560609 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) SNV Conflicting interpretations of pathogenicity 36697 rs79474211 7:151478406-151478406 7:151781320-151781320 WLF001 Wolff-Parkinson-White Syndrome MYBPC3 NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) SNV Conflicting interpretations of pathogenicity 42550 rs397515912 11:47364162-47364162 11:47342611-47342611 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*2C>T SNV Conflicting interpretations of pathogenicity 177987 rs199559205 7:151254285-151254285 7:151557199-151557199 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly) SNV Conflicting interpretations of pathogenicity 45733 rs201240745 7:151329211-151329211 7:151632125-151632125 WLF001 Wolff-Parkinson-White Syndrome KCNQ1 NM_181798.1(KCNQ1):c.808C>T (p.Arg270Trp) SNV Conflicting interpretations of pathogenicity 52970 rs199472776 11:2608860-2608860 11:2587630-2587630 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.202G>A (p.Gly68Ser) SNV Conflicting interpretations of pathogenicity 181465 rs730880970 7:151478502-151478502 7:151781416-151781416 WLF001 Wolff-Parkinson-White Syndrome CACNA1C NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) SNV Conflicting interpretations of pathogenicity 190654 rs730880056 12:2702427-2702427 12:2593261-2593261 WLF001 Wolff-Parkinson-White Syndrome SNTA1 NM_003098.2(SNTA1):c.1088A>C (p.Glu363Ala) SNV Conflicting interpretations of pathogenicity 190918 rs147964932 20:31998090-31998090 20:33410284-33410284 WLF001 Wolff-Parkinson-White Syndrome LAMA4 NM_001105206.3(LAMA4):c.2398C>T (p.Arg800Cys) SNV Conflicting interpretations of pathogenicity 192119 rs202184174 6:112466091-112466091 6:112144889-112144889 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.186+7C>T SNV Conflicting interpretations of pathogenicity 359350 rs886062102 7:151483549-151483549 7:151786463-151786463 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.947-7G>A SNV Conflicting interpretations of pathogenicity 465344 rs1554464198 7:151272042-151272042 7:151574956-151574956 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=) SNV Conflicting interpretations of pathogenicity 45686 rs116541276 7:151267265-151267265 7:151570179-151570179 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.1106+9G>C SNV Conflicting interpretations of pathogenicity 45687 rs200429988 7:151267248-151267248 7:151570162-151570162 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.111T>A (p.Ile37=) SNV Conflicting interpretations of pathogenicity 45688 rs144426409 7:151573595-151573595 7:151876510-151876510 WLF001 Wolff-Parkinson-White Syndrome RYR2 NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) SNV Conflicting interpretations of pathogenicity 43828 rs201500134 1:237821276-237821276 1:237657976-237657976 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.123C>T (p.Ser41=) SNV Conflicting interpretations of pathogenicity 45692 rs397517263 7:151483619-151483619 7:151786533-151786533 WLF001 Wolff-Parkinson-White Syndrome KCNQ1 NM_000218.3(KCNQ1):c.1621G>A (p.Val541Ile) SNV Conflicting interpretations of pathogenicity 67043 rs199472796 11:2797220-2797220 11:2775990-2775990 WLF001 Wolff-Parkinson-White Syndrome SCN5A NM_198056.2(SCN5A):c.1567C>T (p.Arg523Cys) SNV Conflicting interpretations of pathogenicity 67667 rs199473119 3:38645526-38645526 3:38604035-38604035 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.471C>T (p.Ser157=) SNV Conflicting interpretations of pathogenicity 45721 rs141804012 7:151372719-151372719 7:151675633-151675633 WLF001 Wolff-Parkinson-White Syndrome RYR2 NM_001035.3(RYR2):c.4747C>T (p.Pro1583Ser) SNV Conflicting interpretations of pathogenicity 419965 rs200070226 1:237774125-237774125 1:237610825-237610825 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.1584+7C>T SNV Conflicting interpretations of pathogenicity 45699 rs111627309 7:151261157-151261157 7:151564071-151564071 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.240C>A (p.Gly80=) SNV Conflicting interpretations of pathogenicity 45710 rs142482217 7:151478464-151478464 7:151781378-151781378 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.247C>T (p.Pro83Ser) SNV Conflicting interpretations of pathogenicity 45711 rs148791216 7:151478457-151478457 7:151781371-151781371 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.312C>T (p.Thr104=) SNV Conflicting interpretations of pathogenicity 45713 rs397517268 7:151478392-151478392 7:151781306-151781306 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile) SNV Uncertain significance 45717 rs397517270 7:151478279-151478279 7:151781193-151781193 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.620C>G (p.Ser207Cys) SNV Uncertain significance 45729 rs397517277 7:151372570-151372570 7:151675484-151675484 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.532G>A (p.Glu178Lys) SNV Uncertain significance 45723 rs397517273 7:151372658-151372658 7:151675572-151675572 WLF001 Wolff-Parkinson-White Syndrome RYR2 NM_001035.3(RYR2):c.982G>A (p.Ala328Thr) SNV Uncertain significance 93480 rs201669522 1:237586525-237586525 1:237423225-237423225 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn) SNV Uncertain significance 45697 rs397517264 7:151262815-151262815 7:151565729-151565729 WLF001 Wolff-Parkinson-White Syndrome KCNH2 NM_172056.2(KCNH2):c.1225G>A (p.Val409Met) SNV Uncertain significance 456884 rs539146547 7:150649845-150649845 7:150952757-150952757 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.1324G>A (p.Asp442Asn) SNV Uncertain significance 912070 7:151262881-151262881 7:151565795-151565795 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.341C>T (p.Pro114Leu) SNV Uncertain significance 912141 7:151478363-151478363 7:151781277-151781277 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.278T>C (p.Val93Ala) SNV Uncertain significance 908128 7:151478426-151478426 7:151781340-151781340 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.119T>A (p.Leu40Gln) SNV Uncertain significance 910975 7:151483623-151483623 7:151786537-151786537 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.90G>T (p.Arg30Ser) SNV Uncertain significance 912206 7:151573616-151573616 7:151876531-151876531 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.-481G>A SNV Uncertain significance 910143 7:151574186-151574186 7:151877101-151877101 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.-252C>T SNV Uncertain significance 359356 rs546312513 7:151573957-151573957 7:151876872-151876872 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.-322T>C SNV Uncertain significance 359360 rs142348760 7:151574027-151574027 7:151876942-151876942 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*1040del deletion Uncertain significance 359323 rs56898021 7:151253247-151253247 7:151556161-151556161 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*964G>A SNV Uncertain significance 359328 rs75512992 7:151253323-151253323 7:151556237-151556237 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*887G>A SNV Uncertain significance 359330 rs886062096 7:151253400-151253400 7:151556314-151556314 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*614A>T SNV Uncertain significance 359332 rs567058170 7:151253673-151253673 7:151556587-151556587 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*1041dup duplication Uncertain significance 359321 rs886062093 7:151253245-151253246 7:151556159-151556160 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*1040dup duplication Uncertain significance 359322 rs56898021 7:151253246-151253247 7:151556160-151556161 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*1029dup duplication Uncertain significance 359324 rs1554444891 7:151253257-151253258 7:151556171-151556172 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*1021_*1022delinsGT indel Uncertain significance 359325 rs886062094 7:151253265-151253266 7:151556179-151556180 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*612G>A SNV Uncertain significance 359333 rs371404960 7:151253675-151253675 7:151556589-151556589 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*350C>A SNV Uncertain significance 359339 rs886062099 7:151253937-151253937 7:151556851-151556851 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*127C>G SNV Uncertain significance 359341 rs189787963 7:151254160-151254160 7:151557074-151557074 WLF001 Wolff-Parkinson-White Syndrome RYR2 NM_001035.3(RYR2):c.11919T>G (p.Asp3973Glu) SNV Uncertain significance 201316 rs370103782 1:237944903-237944903 1:237781603-237781603 WLF001 Wolff-Parkinson-White Syndrome SCN5A NM_198056.2(SCN5A):c.1705C>G (p.Arg569Gly) SNV Uncertain significance 201576 rs199473576 3:38645388-38645388 3:38603897-38603897 WLF001 Wolff-Parkinson-White Syndrome JUP NM_002230.4(JUP):c.773A>G (p.Glu258Gly) SNV Uncertain significance 201830 rs794729052 17:39923767-39923767 17:41767515-41767515 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.1310C>G (p.Ala437Gly) SNV Uncertain significance 222770 rs762111172 7:151262895-151262895 7:151565809-151565809 WLF001 Wolff-Parkinson-White Syndrome JUP NM_002230.4(JUP):c.578T>C (p.Met193Thr) SNV Uncertain significance 222661 rs139496777 17:39925350-39925350 17:41769098-41769098 WLF001 Wolff-Parkinson-White Syndrome CACNA1C NM_000719.7(CACNA1C):c.1485C>A (p.His495Gln) SNV Uncertain significance 190639 rs373335068 12:2666120-2666120 12:2556954-2556954 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.866T>C (p.Val289Ala) SNV Uncertain significance 181473 rs730880975 7:151273537-151273537 7:151576451-151576451 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.431C>T (p.Pro144Leu) SNV Uncertain significance 181485 rs150140412 7:151478273-151478273 7:151781187-151781187 WLF001 Wolff-Parkinson-White Syndrome ABCC9 NM_005691.3(ABCC9):c.448A>G (p.Ile150Val) SNV Uncertain significance 487606 rs1555117063 12:22069996-22069996 12:21917062-21917062 WLF001 Wolff-Parkinson-White Syndrome MYH6 NM_002471.3(MYH6):c.4430G>T (p.Arg1477Leu) SNV Uncertain significance 487615 rs147586142 14:23857062-23857062 14:23387853-23387853 WLF001 Wolff-Parkinson-White Syndrome MYH7 NM_000257.4(MYH7):c.5779A>T (p.Ile1927Phe) SNV Uncertain significance 487639 rs767300277 14:23882979-23882979 14:23413770-23413770 WLF001 Wolff-Parkinson-White Syndrome ACTC1 NM_005159.5(ACTC1):c.944T>A (p.Met315Lys) SNV Uncertain significance 487590 rs1555418685 15:35083361-35083361 15:34791160-34791160 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*398C>T SNV Uncertain significance 910804 7:151253889-151253889 7:151556803-151556803 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*256T>G SNV Uncertain significance 912012 7:151254031-151254031 7:151556945-151556945 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*156A>G SNV Uncertain significance 909098 7:151254131-151254131 7:151557045-151557045 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.31A>G (p.Lys11Glu) SNV Uncertain significance 520489 rs1041124171 7:151573675-151573675 7:151876590-151876590 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*1043G>A SNV Uncertain significance 910745 7:151253244-151253244 7:151556158-151556158 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*1030T>G SNV Uncertain significance 910746 7:151253257-151253257 7:151556171-151556171 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*1021T>G SNV Uncertain significance 910747 7:151253266-151253266 7:151556180-151556180 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*953T>A SNV Uncertain significance 911968 7:151253334-151253334 7:151556248-151556248 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*771C>T SNV Uncertain significance 909038 7:151253516-151253516 7:151556430-151556430 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*471T>C SNV Uncertain significance 909898 7:151253816-151253816 7:151556730-151556730 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*450T>C SNV Uncertain significance 910801 7:151253837-151253837 7:151556751-151556751 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*419C>T SNV Uncertain significance 910802 7:151253868-151253868 7:151556782-151556782 WLF001 Wolff-Parkinson-White Syndrome MYH11 NM_002474.3(MYH11):c.5897A>G (p.Asn1966Ser) SNV Uncertain significance 487586 rs1317809527 16:15797870-15797870 16:15704013-15704013 WLF001 Wolff-Parkinson-White Syndrome RHBDF1 NM_022450.4(RHBDF1):c.1613C>T (p.Ala538Val) SNV Uncertain significance 487611 rs201706583 16:110482-110482 16:60484-60484 WLF001 Wolff-Parkinson-White Syndrome RHBDF1 NM_022450.4(RHBDF1):c.1384G>A (p.Gly462Arg) SNV Uncertain significance 487583 rs760441920 16:111394-111394 16:61396-61396 WLF001 Wolff-Parkinson-White Syndrome RHBDF1 NM_022450.4(RHBDF1):c.200G>A (p.Arg67Gln) SNV Uncertain significance 487605 rs757169652 16:114745-114745 16:64747-64747 WLF001 Wolff-Parkinson-White Syndrome RHBDF1 NM_022450.4(RHBDF1):c.47A>C (p.Lys16Thr) SNV Uncertain significance 487618 rs999812302 16:114967-114967 16:64969-64969 WLF001 Wolff-Parkinson-White Syndrome RHBDF1 NM_022450.4(RHBDF1):c.14G>A (p.Arg5His) SNV Uncertain significance 487604 rs376110986 16:115000-115000 16:65002-65002 WLF001 Wolff-Parkinson-White Syndrome JUP NM_002230.4(JUP):c.251G>A (p.Arg84Gln) SNV Uncertain significance 487584 rs782061304 17:39925887-39925887 17:41769635-41769635 WLF001 Wolff-Parkinson-White Syndrome KCNJ2 NM_000891.2(KCNJ2):c.49G>A (p.Asp17Asn) SNV Uncertain significance 487624 rs1331601602 17:68171229-68171229 17:70175088-70175088 WLF001 Wolff-Parkinson-White Syndrome TRPM4 NM_017636.4(TRPM4):c.2732C>T (p.Thr911Met) SNV Uncertain significance 487616 rs148006852 19:49703643-49703643 19:49200386-49200386 WLF001 Wolff-Parkinson-White Syndrome FLNA NM_001110556.2(FLNA):c.6268G>C (p.Val2090Leu) SNV Uncertain significance 465010 rs968230475 X:153581251-153581251 X:154352883-154352883 WLF001 Wolff-Parkinson-White Syndrome GJA5 NM_181703.4(GJA5):c.895G>A (p.Glu299Lys) SNV Uncertain significance 487608 rs1553226803 1:147230452-147230452 1:147758344-147758344 WLF001 Wolff-Parkinson-White Syndrome LMNA NM_170707.4(LMNA):c.1756G>A (p.Val586Met) SNV Uncertain significance 487635 rs758048062 1:156108336-156108336 1:156138545-156138545 WLF001 Wolff-Parkinson-White Syndrome CACNA1E NM_001205293.3(CACNA1E):c.6649C>T (p.Gln2217Ter) SNV Uncertain significance 487600 rs766235230 1:181767677-181767677 1:181798541-181798541 WLF001 Wolff-Parkinson-White Syndrome LAMC1 NM_002293.4(LAMC1):c.3304C>T (p.Arg1102Cys) SNV Uncertain significance 487617 rs142883085 1:183099502-183099502 1:183130367-183130367 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn) SNV Uncertain significance 465337 rs760826751 7:151265921-151265921 7:151568835-151568835 WLF001 Wolff-Parkinson-White Syndrome ACTN2 NM_001103.3(ACTN2):c.2075T>A (p.Ile692Asn) SNV Uncertain significance 487588 rs1553304459 1:236918419-236918419 1:236755119-236755119 WLF001 Wolff-Parkinson-White Syndrome RYR2 NM_001035.3(RYR2):c.2984T>C (p.Met995Thr) SNV Uncertain significance 487602 rs1009381849 1:237711808-237711808 1:237548508-237548508 WLF001 Wolff-Parkinson-White Syndrome RYR2 NM_001035.3(RYR2):c.3767C>T (p.Pro1256Leu) SNV Uncertain significance 487620 rs773915323 1:237753261-237753261 1:237589961-237589961 WLF001 Wolff-Parkinson-White Syndrome PRDM16 NM_022114.4(PRDM16):c.1642C>A (p.Pro548Thr) SNV Uncertain significance 487633 rs866090726 1:3328403-3328403 1:3411839-3411839 WLF001 Wolff-Parkinson-White Syndrome PRDM16 NM_022114.4(PRDM16):c.2666C>T (p.Pro889Leu) SNV Uncertain significance 487607 rs201814961 1:3331186-3331186 1:3414622-3414622 WLF001 Wolff-Parkinson-White Syndrome PRDM16 NM_022114.4(PRDM16):c.2855C>T (p.Thr952Met) SNV Uncertain significance 487592 rs749180764 1:3334555-3334555 1:3417991-3417991 WLF001 Wolff-Parkinson-White Syndrome TTC39A NM_001144832.2(TTC39A):c.1502C>G (p.Ala501Gly) SNV Uncertain significance 487623 rs1553171591 1:51755680-51755680 1:51290008-51290008 WLF001 Wolff-Parkinson-White Syndrome TTC39A NM_001144832.2(TTC39A):c.1334C>T (p.Thr445Met) SNV Uncertain significance 487628 rs756251338 1:51756242-51756242 1:51290570-51290570 WLF001 Wolff-Parkinson-White Syndrome TGFBR2 NM_003242.6(TGFBR2):c.1563G>A (p.Trp521Ter) SNV Uncertain significance 487632 rs1553631968 3:30732950-30732950 3:30691458-30691458 WLF001 Wolff-Parkinson-White Syndrome GPD1L NM_015141.3(GPD1L):c.775G>A (p.Gly259Arg) SNV Uncertain significance 487599 rs146477959 3:32200524-32200524 3:32159032-32159032 WLF001 Wolff-Parkinson-White Syndrome PITX2 NM_000325.6(PITX2):c.194C>T (p.Pro65Leu) SNV Uncertain significance 487594 rs1320287028 4:111543423-111543423 4:110622267-110622267 WLF001 Wolff-Parkinson-White Syndrome ANK2 NM_001148.6(ANK2):c.742G>A (p.Val248Met) SNV Uncertain significance 487591 rs752395758 4:114161689-114161689 4:113240533-113240533 WLF001 Wolff-Parkinson-White Syndrome ANK2 NM_001148.6(ANK2):c.1427A>G (p.Gln476Arg) SNV Uncertain significance 487619 rs1203193073 4:114186093-114186093 4:113264937-113264937 WLF001 Wolff-Parkinson-White Syndrome ANK2 NM_001148.6(ANK2):c.11692A>G (p.Lys3898Glu) SNV Uncertain significance 487587 rs1554597130 4:114294327-114294327 4:113373171-113373171 WLF001 Wolff-Parkinson-White Syndrome FNIP1 NM_133372.3(FNIP1):c.2753_2756del (p.Lys918fs) deletion Uncertain significance 487638 rs1554092867 5:131007381-131007384 5:131671688-131671691 WLF001 Wolff-Parkinson-White Syndrome FNIP1 NM_133372.3(FNIP1):c.455+1G>A SNV Uncertain significance 487589 rs1554096246 5:131055009-131055009 5:131719316-131719316 WLF001 Wolff-Parkinson-White Syndrome LAMA4 NM_001105206.3(LAMA4):c.1420G>T (p.Val474Phe) SNV Uncertain significance 487609 rs375981026 6:112493944-112493944 6:112172742-112172742 WLF001 Wolff-Parkinson-White Syndrome DSP NM_004415.4(DSP):c.193C>T (p.His65Tyr) SNV Uncertain significance 487612 rs1554105605 6:7555973-7555973 6:7555740-7555740 WLF001 Wolff-Parkinson-White Syndrome DSP NM_004415.4(DSP):c.3754G>A (p.Glu1252Lys) SNV Uncertain significance 487613 rs1262533485 6:7580177-7580177 6:7579944-7579944 WLF001 Wolff-Parkinson-White Syndrome FLNC NM_001458.4(FLNC):c.3014C>T (p.Ser1005Leu) SNV Uncertain significance 487593 rs752448040 7:128484142-128484142 7:128844088-128844088 WLF001 Wolff-Parkinson-White Syndrome FLNC NM_001458.4(FLNC):c.6748A>C (p.Met2250Leu) SNV Uncertain significance 487622 rs923795184 7:128494487-128494487 7:128854433-128854433 WLF001 Wolff-Parkinson-White Syndrome KCNH2 NM_172056.2(KCNH2):c.2046G>C (p.Glu682Asp) SNV Uncertain significance 487626 rs1338579153 7:150648108-150648108 7:150951020-150951020 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.359G>A (p.Arg120His) SNV Uncertain significance 487637 rs775756069 7:151478345-151478345 7:151781259-151781259 WLF001 Wolff-Parkinson-White Syndrome DPP6 NM_130797.4(DPP6):c.1091C>G (p.Pro364Arg) SNV Uncertain significance 487598 rs756673341 7:154564607-154564607 7:154772897-154772897 WLF001 Wolff-Parkinson-White Syndrome DPP6 NM_130797.4(DPP6):c.1154T>C (p.Met385Thr) SNV Uncertain significance 487614 rs369128533 7:154585806-154585806 7:154794096-154794096 WLF001 Wolff-Parkinson-White Syndrome AKAP9 NM_147185.3(AKAP9):c.10567C>G (p.Gln3523Glu) SNV Uncertain significance 487601 rs767137372 7:91727092-91727092 7:92097778-92097778 WLF001 Wolff-Parkinson-White Syndrome AKAP9 NM_147185.3(AKAP9):c.11273G>A (p.Arg3758Gln) SNV Uncertain significance 487596 rs137892407 7:91732107-91732107 7:92102793-92102793 WLF001 Wolff-Parkinson-White Syndrome WWP1 NM_007013.4(WWP1):c.1879A>T (p.Met627Leu) SNV Uncertain significance 487621 rs773370868 8:87454888-87454888 8:86442659-86442659 WLF001 Wolff-Parkinson-White Syndrome RBM20 NM_001134363.3(RBM20):c.934C>A (p.Leu312Met) SNV Uncertain significance 487629 rs1164333931 10:112541301-112541301 10:110781543-110781543 WLF001 Wolff-Parkinson-White Syndrome NEBL NM_213569.2(NEBL):c.484C>T (p.His162Tyr) SNV Uncertain significance 487585 rs1554774990 10:21101743-21101743 10:20812814-20812814 WLF001 Wolff-Parkinson-White Syndrome VCL NM_014000.2(VCL):c.550C>T (p.His184Tyr) SNV Uncertain significance 487630 rs1321660809 10:75832538-75832538 10:74072780-74072780 WLF001 Wolff-Parkinson-White Syndrome VCL NM_014000.2(VCL):c.1928C>T (p.Thr643Met) SNV Uncertain significance 487627 rs150643310 10:75860761-75860761 10:74101003-74101003 WLF001 Wolff-Parkinson-White Syndrome VCL NM_014000.2(VCL):c.3379G>A (p.Val1127Ile) SNV Uncertain significance 487634 rs1312868617 10:75877901-75877901 10:74118143-74118143 WLF001 Wolff-Parkinson-White Syndrome MYBPC3 NM_000256.3(MYBPC3):c.2603G>A (p.Gly868Asp) SNV Uncertain significance 487610 rs886048376 11:47357562-47357562 11:47336011-47336011 WLF001 Wolff-Parkinson-White Syndrome MYBPC3 NM_000256.3(MYBPC3):c.1219G>C (p.Gly407Arg) SNV Uncertain significance 487636 rs727505266 11:47365047-47365047 11:47343496-47343496 WLF001 Wolff-Parkinson-White Syndrome TBX5 NM_000192.3(TBX5):c.618T>G (p.Phe206Leu) SNV Uncertain significance 487603 rs533581420 12:114832591-114832591 12:114394786-114394786 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.3(PRKAG2):c.-575C>T SNV Uncertain significance 359366 rs886062108 7:151574280-151574280 7:151877195-151877195 WLF001 Wolff-Parkinson-White Syndrome COL5A1 NM_001278074.1(COL5A1):c.1389G>A (p.Pro463=) SNV Uncertain significance 373924 rs1057518771 9:137623973-137623973 9:134732127-134732127 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.-249G>C SNV Uncertain significance 359355 rs534059998 7:151573954-151573954 7:151876869-151876869 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.-262C>T SNV Uncertain significance 359357 rs886062103 7:151573967-151573967 7:151876882-151876882 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.395A>G (p.Lys132Arg) SNV Uncertain significance 359347 rs779753891 7:151478309-151478309 7:151781223-151781223 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.224G>C (p.Gly75Ala) SNV Uncertain significance 359349 rs199963585 7:151478480-151478480 7:151781394-151781394 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*1012T>G SNV Uncertain significance 359327 rs886062095 7:151253275-151253275 7:151556189-151556189 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*835T>C SNV Uncertain significance 359331 rs886062097 7:151253452-151253452 7:151556366-151556366 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*365G>A SNV Uncertain significance 359338 rs886062098 7:151253922-151253922 7:151556836-151556836 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.433G>A (p.Gly145Arg) SNV Uncertain significance 359345 rs886062101 7:151478271-151478271 7:151781185-151781185 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.-351G>A SNV Uncertain significance 359361 rs886062105 7:151574056-151574056 7:151876971-151876971 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.-397G>C SNV Uncertain significance 359362 rs886062106 7:151574102-151574102 7:151877017-151877017 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.3(PRKAG2):c.-580C>T SNV Uncertain significance 359367 rs886062109 7:151574285-151574285 7:151877200-151877200 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*896del deletion Uncertain significance 359329 rs532079387 7:151253391-151253391 7:151556305-151556305 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*55C>T SNV Uncertain significance 359343 rs371637024 7:151254232-151254232 7:151557146-151557146 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.787C>A (p.Arg263=) SNV Uncertain significance 359344 rs886062100 7:151292508-151292508 7:151595422-151595422 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.-274C>A SNV Uncertain significance 359358 rs886062104 7:151573979-151573979 7:151876894-151876894 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.3(PRKAG2):c.-517G>T SNV Uncertain significance 359363 rs886062107 7:151574222-151574222 7:151877137-151877137 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.-40C>T SNV Uncertain significance 359353 rs148715621 7:151573745-151573745 7:151876660-151876660 WLF001 Wolff-Parkinson-White Syndrome TCAP NM_003673.3(TCAP):c.97C>T (p.Arg33Trp) SNV Uncertain significance 282451 rs145524909 17:37821709-37821709 17:39665456-39665456 WLF001 Wolff-Parkinson-White Syndrome RYR2 NM_001035.3(RYR2):c.3181G>A (p.Gly1061Ser) SNV Uncertain significance 296718 rs747447414 1:237713958-237713958 1:237550658-237550658 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.3(PRKAG2):c.-560C>T SNV Likely benign 359365 rs117728810 7:151574265-151574265 7:151877180-151877180 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*384C>T SNV Likely benign 359337 rs75418446 7:151253903-151253903 7:151556817-151556817 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*1021del deletion Likely benign 359326 rs11329945 7:151253266-151253266 7:151556180-151556180 WLF001 Wolff-Parkinson-White Syndrome PRDM16 NM_022114.4(PRDM16):c.706G>A (p.Asp236Asn) SNV Likely benign 487582 rs185041492 1:3319384-3319384 1:3402820-3402820 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*399G>A SNV Likely benign 910803 7:151253888-151253888 7:151556802-151556802 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*56G>A SNV Likely benign 909955 7:151254231-151254231 7:151557145-151557145 WLF001 Wolff-Parkinson-White Syndrome MYH7 NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) SNV Likely benign 43012 rs201307101 14:23886504-23886504 14:23417295-23417295 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*3G>A SNV Benign/Likely benign 45684 rs113234987 7:151254284-151254284 7:151557198-151557198 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.114+12C>T SNV Benign/Likely benign 45689 rs77902041 7:151573580-151573580 7:151876495-151876495 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) SNV Benign/Likely benign 45727 rs116605521 7:151573647-151573647 7:151876562-151876562 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.1623T>C (p.Ile541=) SNV Benign/Likely benign 45702 rs28763998 7:151257665-151257665 7:151560579-151560579 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.1704G>A (p.Thr568=) SNV Benign/Likely benign 45706 rs138167675 7:151254293-151254293 7:151557207-151557207 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.207G>A (p.Pro69=) SNV Benign/Likely benign 45709 rs144384573 7:151478497-151478497 7:151781411-151781411 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*112A>G SNV Benign/Likely benign 359342 rs8961 7:151254175-151254175 7:151557089-151557089 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*522G>T SNV Benign/Likely benign 359335 rs1051956 7:151253765-151253765 7:151556679-151556679 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*452C>T SNV Benign/Likely benign 359336 rs17714947 7:151253835-151253835 7:151556749-151556749 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.*1061G>A SNV Benign/Likely benign 359320 rs7429 7:151253226-151253226 7:151556140-151556140 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.-26C>T SNV Benign/Likely benign 260692 rs66628686 7:151573731-151573731 7:151876646-151876646 WLF001 Wolff-Parkinson-White Syndrome PRKAG2 NM_016203.4(PRKAG2):c.-90G>T SNV Benign/Likely benign 359354 rs76351165 7:151573795-151573795 7:151876710-151876710 WLF001 Wolff-Parkinson-White Syndrome WFS1 NM_006005.3(WFS1):c.1829del (p.Leu610fs) deletion Pathogenic 802051 4:6303350-6303350 4:6301623-6301623 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter) SNV Pathogenic 802052 4:6303529-6303529 4:6301802-6301802 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.2224dup (p.Cys742fs) duplication Pathogenic 807719 4:6303745-6303746 4:6302018-6302019 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.2638_2643del (p.Asp880_Phe881del) deletion Pathogenic 807720 4:6304156-6304161 4:6302429-6302434 WLF004 Wolfram Syndrome WFS1 WFS1, 2-BP DEL, 2812TC deletion Pathogenic 4507 WLF004 Wolfram Syndrome WFS1 WFS1, 15-BP DEL, NT1685 deletion Pathogenic 4508 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.2084G>T (p.Gly695Val) SNV Pathogenic 4510 rs28937891 4:6303606-6303606 4:6301879-6301879 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.1944G>A (p.Trp648Ter) SNV Pathogenic 4511 rs104893879 4:6303466-6303466 4:6301739-6301739 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu) SNV Pathogenic 4512 rs28937892 4:6303033-6303033 4:6301306-6301306 WLF004 Wolfram Syndrome WFS1 WFS1, 7-BP INS, NT1610 insertion Pathogenic 4513 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.1385_1393del (p.Glu462_Thr464del) deletion Pathogenic 4514 4:6302902-6302910 4:6301175-6301183 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.460+1G>A SNV Pathogenic 4515 4:6290859-6290859 4:6289132-6289132 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.676C>T (p.Gln226Ter) SNV Pathogenic 4516 rs104893880 4:6293688-6293688 4:6291961-6291961 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.2455C>T (p.Gln819Ter) SNV Pathogenic 4517 rs104893881 4:6303977-6303977 4:6302250-6302250 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.409_424dup (p.Val142fs) duplication Pathogenic 4519 rs1362648752 4:6290805-6290806 4:6289078-6289079 WLF004 Wolfram Syndrome WFS1 WFS1, 16-BP DEL, NT1362 deletion Pathogenic 4525 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.2119G>T (p.Val707Phe) SNV Pathogenic 30552 rs71524377 4:6303641-6303641 4:6301914-6301914 WLF004 Wolfram Syndrome WFS1 WFS1, 8-BP DEL, NT2106 deletion Pathogenic 30553 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) SNV Pathogenic 30556 rs387906930 4:6303573-6303573 4:6301846-6301846 WLF004 Wolfram Syndrome WFS1 WFS1, 3-BP DEL, VAL415DEL deletion Pathogenic 30557 WLF004 Wolfram Syndrome WFS1 WFS1, 4-BP DEL, 1387CTCT deletion Pathogenic 30558 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.439del (p.Arg147fs) deletion Pathogenic 620589 rs1560408865 4:6290836-6290836 4:6289109-6289109 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.873C>G (p.Tyr291Ter) SNV Pathogenic 212616 rs777580652 4:6302395-6302395 4:6300668-6300668 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.2369C>A (p.Ser790Ter) SNV Pathogenic 212614 rs369107336 4:6303891-6303891 4:6302164-6302164 WLF004 Wolfram Syndrome WFS1 NM_001145853.1(WFS1):c.2648_2651del (p.Phe883fs) deletion Pathogenic/Likely pathogenic 209207 rs797045076 4:6304168-6304171 4:6302441-6302444 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) SNV Pathogenic/Likely pathogenic 189251 rs71530923 4:6279306-6279306 4:6277579-6277579 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.2263T>C (p.Cys755Arg) SNV Likely pathogenic 209206 rs797045075 4:6303785-6303785 4:6302058-6302058 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.568_570AAG[3] (p.Lys193del) short repeat Likely pathogenic 623222 rs752461187 4:6293031-6293033 4:6291304-6291306 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu) SNV Likely pathogenic 437297 rs372855769 4:6304176-6304176 4:6302449-6302449 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.1237_1239TTC[1] (p.Phe414del) short repeat Likely pathogenic 212611 rs797046112 4:6302757-6302759 4:6301030-6301032 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.1692_1697CCTCTT[1] (p.565_566LF[1]) short repeat Likely pathogenic 212612 rs797046113 4:6303211-6303216 4:6301484-6301489 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.1235T>C (p.Val412Ala) SNV Conflicting interpretations of pathogenicity 215387 rs144951440 4:6302757-6302757 4:6301030-6301030 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser) SNV Conflicting interpretations of pathogenicity 215389 rs113446173 4:6302893-6302893 4:6301166-6301166 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.1610G>A (p.Cys537Tyr) SNV Conflicting interpretations of pathogenicity 215390 rs199910987 4:6303132-6303132 4:6301405-6301405 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) SNV Conflicting interpretations of pathogenicity 130748 rs35932623 4:6303974-6303974 4:6302247-6302247 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) SNV Conflicting interpretations of pathogenicity 198835 rs199946797 4:6303194-6303194 4:6301467-6301467 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.683G>A (p.Arg228His) SNV Conflicting interpretations of pathogenicity 198190 rs150771247 4:6293695-6293695 4:6291968-6291968 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) SNV Conflicting interpretations of pathogenicity 137913 rs35031397 4:6302816-6302816 4:6301089-6301089 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys) SNV Conflicting interpretations of pathogenicity 143132 rs147834269 4:6303731-6303731 4:6302004-6302004 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.716A>G (p.Lys239Arg) SNV Uncertain significance 166574 rs727503747 4:6296771-6296771 4:6295044-6295044 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys) SNV Uncertain significance 178597 rs201064551 4:6303479-6303479 4:6301752-6301752 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.1396G>A (p.Gly466Ser) SNV Uncertain significance 166589 rs727503750 4:6302918-6302918 4:6301191-6301191 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.2029G>A (p.Ala677Thr) SNV Uncertain significance 198834 rs757027394 4:6303551-6303551 4:6301824-6301824 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.1724C>G (p.Ala575Gly) SNV Uncertain significance 440419 rs71524360 4:6303246-6303246 4:6301519-6301519 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.1124G>A (p.Arg375His) SNV Uncertain significance 504709 rs142671083 4:6302646-6302646 4:6300919-6300919 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu) SNV Uncertain significance 4509 rs28937890 4:6303693-6303693 4:6301966-6301966 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.1633G>A (p.Val545Met) SNV Uncertain significance 215391 rs201993978 4:6303155-6303155 4:6301428-6301428 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.535G>A (p.Ala179Thr) SNV Uncertain significance 229647 rs776685250 4:6292998-6292998 4:6291271-6291271 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.1079G>A (p.Cys360Tyr) SNV Uncertain significance 374398 rs147157374 4:6302601-6302601 4:6300874-6300874 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.2191A>G (p.Met731Val) SNV Uncertain significance 374399 rs144010362 4:6303713-6303713 4:6301986-6301986 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.1538A>C (p.Tyr513Ser) SNV Uncertain significance 215412 rs544933961 4:6303060-6303060 4:6301333-6301333 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.728C>T (p.Ala243Val) SNV Uncertain significance 215381 rs147147660 4:6296783-6296783 4:6295056-6295056 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.817G>A (p.Glu273Lys) SNV Uncertain significance 215382 rs142428158 4:6296872-6296872 4:6295145-6295145 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.1167T>G (p.Asp389Glu) SNV Uncertain significance 215385 rs201282601 4:6302689-6302689 4:6300962-6300962 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.712+16G>A SNV Benign/Likely benign 215380 rs71524367 4:6293740-6293740 4:6292013-6292013 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.482G>A (p.Arg161Gln) SNV Benign/Likely benign 137911 rs115346085 4:6292945-6292945 4:6291218-6291218 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.1832G>A (p.Arg611His) SNV Benign 45442 rs734312 4:6303354-6303354 4:6301627-6301627 WLF004 Wolfram Syndrome WFS1 NM_006005.3(WFS1):c.713-1075C>G SNV Benign 4528 rs6446482 4:6295693-6295693 4:6293966-6293966 WLF004 Wolfram Syndrome HERC2 NM_004667.5(HERC2):c.7617+4A>C SNV not provided 585200 rs1567006110 15:28447255-28447255 15:28202109-28202109 WLF004 Wolfram Syndrome SMPX NM_014332.3(SMPX):c.87dup (p.Gly30fs) duplication Pathogenic 444056 rs1569308571 X:21761912-21761913 X:21743794-21743795 XLN004 X-Linked Nonsyndromic Deafness RAX2 NM_001319074.4(RAX2):c.385G>A (p.Val129Met) SNV Conflicting interpretations of pathogenicity 889123 19:3770789-3770789 19:3770791-3770791 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_001319074.4(RAX2):c.131G>A (p.Arg44Gln) SNV Conflicting interpretations of pathogenicity 892560 19:3771610-3771610 19:3771612-3771612 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_001319074.4(RAX2):c.49G>C (p.Gly17Arg) SNV Conflicting interpretations of pathogenicity 889200 19:3771692-3771692 19:3771694-3771694 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.260G>A (p.Arg87Gln) SNV Conflicting interpretations of pathogenicity 1240 rs121908280 19:3770914-3770914 19:3770916-3770916 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.432G>A (p.Ala144=) SNV Conflicting interpretations of pathogenicity 262101 rs149918940 19:3770742-3770742 19:3770744-3770744 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.156G>A (p.Pro52=) SNV Conflicting interpretations of pathogenicity 328969 rs141804618 19:3771585-3771585 19:3771587-3771587 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.19G>A (p.Glu7Lys) SNV Conflicting interpretations of pathogenicity 328972 rs556179949 19:3771722-3771722 19:3771724-3771724 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.76A>C (p.Lys26Gln) SNV Conflicting interpretations of pathogenicity 328971 rs370364475 19:3771665-3771665 19:3771667-3771667 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.-27G>T SNV Uncertain significance 328976 rs563046576 19:3772178-3772178 19:3772180-3772180 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.-60C>A SNV Uncertain significance 328978 rs886054371 19:3772211-3772211 19:3772213-3772213 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.*1523T>C SNV Uncertain significance 328940 rs775609621 19:3769096-3769096 19:3769098-3769098 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.-10+8C>T SNV Uncertain significance 328973 rs886054370 19:3772153-3772153 19:3772155-3772155 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.*624G>A SNV Uncertain significance 328959 rs886054368 19:3769995-3769995 19:3769997-3769997 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.*972T>A SNV Uncertain significance 328949 rs886054366 19:3769647-3769647 19:3769649-3769649 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.*88C>T SNV Uncertain significance 328963 rs886054369 19:3770531-3770531 19:3770533-3770533 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.*7C>T SNV Uncertain significance 328965 rs781395665 19:3770612-3770612 19:3770614-3770614 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.217-8C>A SNV Uncertain significance 328967 rs79588413 19:3770965-3770965 19:3770967-3770967 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.83G>A (p.Arg28Gln) SNV Uncertain significance 328970 rs199546013 19:3771658-3771658 19:3771660-3771660 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.*1483C>T SNV Uncertain significance 328941 rs886054363 19:3769136-3769136 19:3769138-3769138 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.*949C>T SNV Uncertain significance 328950 rs886054367 19:3769670-3769670 19:3769672-3769672 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_001319074.4(RAX2):c.-275G>A SNV Uncertain significance 889884 19:3772167-3772167 19:3772169-3772169 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_001319074.4(RAX2):c.217-11G>C SNV Uncertain significance 891363 19:3770968-3770968 19:3770970-3770970 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_001319074.4(RAX2):c.320C>T (p.Pro107Leu) SNV Uncertain significance 889124 19:3770854-3770854 19:3770856-3770856 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_001319074.4(RAX2):c.134C>T (p.Ala45Val) SNV Uncertain significance 892559 19:3771607-3771607 19:3771609-3771609 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_001319074.4(RAX2):c.*1490A>G SNV Uncertain significance 890643 19:3769129-3769129 19:3769131-3769131 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_001319074.4(RAX2):c.*918G>A SNV Uncertain significance 888997 19:3769701-3769701 19:3769703-3769703 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_001319074.4(RAX2):c.*897C>T SNV Uncertain significance 888998 19:3769722-3769722 19:3769724-3769724 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_001319074.4(RAX2):c.*784C>T SNV Uncertain significance 889690 19:3769835-3769835 19:3769837-3769837 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_001319074.4(RAX2):c.*776C>T SNV Uncertain significance 889691 19:3769843-3769843 19:3769845-3769845 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_001319074.4(RAX2):c.*751G>A SNV Uncertain significance 891248 19:3769868-3769868 19:3769870-3769870 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_001319074.4(RAX2):c.*687A>G SNV Uncertain significance 891249 19:3769932-3769932 19:3769934-3769934 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_001319074.4(RAX2):c.*667G>A SNV Uncertain significance 892438 19:3769952-3769952 19:3769954-3769954 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_001319074.4(RAX2):c.*552C>T SNV Uncertain significance 889062 19:3770067-3770067 19:3770069-3770069 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_001319074.4(RAX2):c.*501C>T SNV Uncertain significance 889063 19:3770118-3770118 19:3770120-3770120 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_001319074.4(RAX2):c.*368C>T SNV Uncertain significance 889754 19:3770251-3770251 19:3770253-3770253 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_001319074.4(RAX2):c.*263C>T SNV Uncertain significance 889755 19:3770356-3770356 19:3770358-3770358 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_001319074.4(RAX2):c.*248C>T SNV Uncertain significance 889756 19:3770371-3770371 19:3770373-3770373 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_001319074.4(RAX2):c.*201C>T SNV Uncertain significance 889757 19:3770418-3770418 19:3770420-3770420 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_001319074.4(RAX2):c.*195G>A SNV Uncertain significance 891296 19:3770424-3770424 19:3770426-3770426 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_001319074.4(RAX2):c.*194C>G SNV Uncertain significance 891297 19:3770425-3770425 19:3770427-3770427 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_001319074.4(RAX2):c.535A>G (p.Arg179Gly) SNV Uncertain significance 892494 19:3770639-3770639 19:3770641-3770641 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_001319074.4(RAX2):c.446A>G (p.His149Arg) SNV Uncertain significance 892495 19:3770728-3770728 19:3770730-3770730 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_001319074.4(RAX2):c.413C>T (p.Pro138Leu) SNV Uncertain significance 889122 19:3770761-3770761 19:3770763-3770763 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_001319074.4(RAX2):c.*1169G>A SNV Benign/Likely benign 891193 19:3769450-3769450 19:3769452-3769452 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.*1054C>T SNV Benign/Likely benign 328948 rs368356816 19:3769565-3769565 19:3769567-3769567 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.*45C>T SNV Benign/Likely benign 328964 rs139146360 19:3770574-3770574 19:3770576-3770576 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.*191C>T SNV Benign/Likely benign 328962 rs150808899 19:3770428-3770428 19:3770430-3770430 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.217-10C>T SNV Benign/Likely benign 328968 rs772762463 19:3770967-3770967 19:3770969-3770969 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.-11C>T SNV Benign/Likely benign 328974 rs776666200 19:3772162-3772162 19:3772164-3772164 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.-22G>A SNV Benign/Likely benign 328975 rs182965071 19:3772173-3772173 19:3772175-3772175 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.-57G>A SNV Benign/Likely benign 328977 rs576680324 19:3772208-3772208 19:3772210-3772210 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.*679C>T SNV Benign/Likely benign 328958 rs576669713 19:3769940-3769940 19:3769942-3769942 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.282C>T (p.Ala94=) SNV Benign/Likely benign 328966 rs201021639 19:3770892-3770892 19:3770894-3770894 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.*1366C>G SNV Benign 328942 rs6510769 19:3769253-3769253 19:3769255-3769255 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.*1324A>G SNV Benign 328943 rs138882802 19:3769295-3769295 19:3769297-3769297 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.*680G>A SNV Benign 328957 rs28673245 19:3769939-3769939 19:3769941-3769941 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.*1149C>T SNV Benign 328945 rs1860322 19:3769470-3769470 19:3769472-3769472 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.*902G>T SNV Benign 328951 rs10405125 19:3769717-3769717 19:3769719-3769719 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.*866C>T SNV Benign 328952 rs917545 19:3769753-3769753 19:3769755-3769755 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.*381A>G SNV Benign 328961 rs73531473 19:3770238-3770238 19:3770240-3770240 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.*720G>A SNV Benign 328955 rs917547 19:3769899-3769899 19:3769901-3769901 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.*689C>T SNV Benign 328956 rs115071988 19:3769930-3769930 19:3769932-3769932 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.*785G>A SNV Benign 328953 rs917546 19:3769834-3769834 19:3769836-3769836 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.155C>T (p.Pro52Leu) SNV Benign 96229 rs76076446 19:3771586-3771586 19:3771588-3771588 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.217-8C>T SNV Benign 96230 rs79588413 19:3770965-3770965 19:3770967-3770967 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_032753.4(RAX2):c.45T>G (p.Gly15=) SNV Benign 195392 rs139127905 19:3771696-3771696 19:3771698-3771698 MCL036 Macular Degeneration, Age-Related, 6 RAX2 NM_001319074.4(RAX2):c.*647T>C SNV Benign 892439 19:3769972-3769972 19:3769974-3769974 MCL036 Macular Degeneration, Age-Related, 6 NKX2-1 NM_001079668.3(NKX2-1):c.1050del (p.Gln350fs) deletion Pathogenic 495058 rs1555349146 14:36986639-36986639 14:36517434-36517434 CHR630 Chorea, Benign Hereditary RHOBTB2 NM_001160036.2(RHOBTB2):c.1532G>A (p.Arg511Gln) SNV Pathogenic 545418 rs1554504684 8:22865224-22865224 8:23007711-23007711 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.(?_-1)_*(1206_?)del deletion Pathogenic 635557 14:36985277-36989335 14:36516072-36520130 CHR630 Chorea, Benign Hereditary PDE2A NM_002599.5(PDE2A):c.1180C>T (p.Gln394Ter) SNV Pathogenic 689477 11:72297116-72297116 11:72586072-72586072 CHR630 Chorea, Benign Hereditary NKX2-1 NC_000014.8:g.(36407609_36463186)_(37638963_37670256)del deletion Pathogenic 8972 14:36407609-37670256 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.727C>A (p.Arg243Ser) SNV Pathogenic 8973 rs28936671 14:36986962-36986962 14:36517757-36517757 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.713G>T (p.Trp238Leu) SNV Pathogenic 8974 rs28936672 14:36986976-36986976 14:36517771-36517771 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.908del (p.Gly303fs) deletion Pathogenic 8975 rs387906404 14:36986781-36986781 14:36517576-36517576 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.745C>T (p.Gln249Ter) SNV Pathogenic 8980 rs137852694 14:36986944-36986944 14:36517739-36517739 CHR630 Chorea, Benign Hereditary FRRS1L NM_014334.3(FRRS1L):c.961C>T (p.Gln321Ter) SNV Pathogenic 218151 rs878853280 9:111899809-111899809 9:109137529-109137529 CHR630 Chorea, Benign Hereditary FRRS1L NM_014334.3(FRRS1L):c.845G>A (p.Trp282Ter) SNV Pathogenic 218152 rs878853281 9:111903640-111903640 9:109141360-109141360 CHR630 Chorea, Benign Hereditary FRRS1L NM_014334.3(FRRS1L):c.436dup (p.Ile146fs) duplication Pathogenic 218154 rs878853283 9:111911955-111911956 9:109149675-109149676 CHR630 Chorea, Benign Hereditary FRRS1L NM_014334.3(FRRS1L):c.737_739del (p.Gly246del) deletion Pathogenic/Likely pathogenic 218153 rs878853282 9:111903746-111903748 9:109141466-109141468 CHR630 Chorea, Benign Hereditary GNAO1 NM_020988.3(GNAO1):c.709G>A (p.Glu237Lys) SNV Pathogenic/Likely pathogenic 420523 rs1064794533 16:56370758-56370758 16:56336846-56336846 CHR630 Chorea, Benign Hereditary CSTB NM_000100.3(CSTB):c.67-1G>C SNV Pathogenic/Likely pathogenic 8395 rs147484110 21:45194641-45194641 21:43774760-43774760 CHR630 Chorea, Benign Hereditary SLC9A6 NM_001042537.1(SLC9A6):c.1728-19_1728-3del deletion Likely pathogenic 598968 rs1569525894 X:135122214-135122230 X:136040055-136040071 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.872C>G (p.Pro291Arg) SNV Likely pathogenic 689773 14:36986817-36986817 14:36517612-36517612 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.303_319del (p.Ala103fs) deletion Likely pathogenic 807451 14:36988334-36988350 14:36519129-36519145 CHR630 Chorea, Benign Hereditary GNAO1 NM_020988.3(GNAO1):c.545C>T (p.Thr182Ile) SNV Likely pathogenic 812779 16:56368721-56368721 16:56334809-56334809 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.1106C>T (p.Ala369Val) SNV Conflicting interpretations of pathogenicity 487553 rs537209983 14:36986583-36986583 14:36517378-36517378 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.925G>T (p.Ala309Ser) SNV Uncertain significance 313141 rs886050482 14:36986764-36986764 14:36517559-36517559 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.201G>A (p.Pro67=) SNV Uncertain significance 313146 rs747491554 14:36988452-36988452 14:36519247-36519247 CHR630 Chorea, Benign Hereditary DNMT1 NM_001130823.3(DNMT1):c.2718C>G (p.Phe906Leu) SNV Uncertain significance 373927 rs1057518774 19:10259562-10259562 19:10148886-10148886 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.435C>G (p.Gly145=) SNV Uncertain significance 313145 rs886050484 14:36988218-36988218 14:36519013-36519013 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.-71C>A SNV Uncertain significance 313148 rs886050485 14:36989405-36989405 14:36520200-36520200 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.*470A>G SNV Uncertain significance 313126 rs886050479 14:36986013-36986013 14:36516808-36516808 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.1200C>T (p.Thr400=) SNV Uncertain significance 313138 rs886050481 14:36986489-36986489 14:36517284-36517284 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.816C>T (p.Thr272=) SNV Uncertain significance 313142 rs886050483 14:36986873-36986873 14:36517668-36517668 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.*820A>G SNV Uncertain significance 313122 rs886050477 14:36985663-36985663 14:36516458-36516458 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.*460del deletion Uncertain significance 313128 rs5807883 14:36986023-36986023 14:36516818-36516818 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.*185_*186dup duplication Uncertain significance 313136 rs1555349072 14:36986296-36986297 14:36517091-36517092 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.*460dup duplication Uncertain significance 313129 rs5807883 14:36986022-36986023 14:36516817-36516818 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.*210dup duplication Uncertain significance 313132 rs886050480 14:36986272-36986273 14:36517067-36517068 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.*186dup duplication Uncertain significance 313135 rs1555349072 14:36986296-36986297 14:36517091-36517092 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.*577C>T SNV Uncertain significance 883820 14:36985906-36985906 14:36516701-36516701 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.*536C>T SNV Uncertain significance 883821 14:36985947-36985947 14:36516742-36516742 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.918G>T (p.Ala306=) SNV Uncertain significance 883116 14:36986771-36986771 14:36517566-36517566 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.911C>A (p.Ala304Asp) SNV Uncertain significance 883117 14:36986778-36986778 14:36517573-36517573 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.786C>T (p.Asp262=) SNV Uncertain significance 883893 14:36986903-36986903 14:36517698-36517698 CHR630 Chorea, Benign Hereditary RTN4IP1 NM_032730.5(RTN4IP1):c.263T>G (p.Val88Gly) SNV Uncertain significance 916015 6:107076634-107076634 6:106628759-106628759 CHR630 Chorea, Benign Hereditary CRYBG1 deletion Uncertain significance 916131 6:106539151-106629957 CHR630 Chorea, Benign Hereditary QRSL1 deletion Uncertain significance 916131 6:106539151-106629957 CHR630 Chorea, Benign Hereditary RTN4IP1 deletion Uncertain significance 916131 6:106539151-106629957 CHR630 Chorea, Benign Hereditary CASR NM_000388.4(CASR):c.1609-27C>T SNV Uncertain significance 598997 rs4678175 3:122000933-122000933 3:122282086-122282086 CHR630 Chorea, Benign Hereditary TRH NM_007117.5(TRH):c.25G>A (p.Ala9Thr) SNV Uncertain significance 598998 rs772388530 3:129694684-129694684 3:129975841-129975841 CHR630 Chorea, Benign Hereditary DNMT1 NM_001130823.3(DNMT1):c.3362G>T (p.Ser1121Ile) SNV Uncertain significance 599001 rs1202584286 19:10251813-10251813 19:10141137-10141137 CHR630 Chorea, Benign Hereditary CACNA1A NM_001127221.1(CACNA1A):c.2396A>T (p.Asp799Val) SNV Uncertain significance 397544 rs1060499675 19:13410054-13410054 19:13299240-13299240 CHR630 Chorea, Benign Hereditary PCDH19 NM_001184880.2(PCDH19):c.2359C>T (p.Arg787Cys) SNV Uncertain significance 159556 rs376390125 X:99657779-99657779 X:100402781-100402781 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.*544G>A SNV Uncertain significance 313125 rs886050478 14:36985939-36985939 14:36516734-36516734 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.*459_*460dup duplication Uncertain significance 313127 rs5807883 14:36986022-36986023 14:36516817-36516818 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.*14C>T SNV Likely benign 313137 rs755542970 14:36986469-36986469 14:36517264-36517264 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.*581del deletion Likely benign 313123 rs534281105 14:36985902-36985902 14:36516697-36516697 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.657G>A (p.Pro219=) SNV Likely benign 313143 rs778886269 14:36987032-36987032 14:36517827-36517827 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.29G>A (p.Arg10Gln) SNV Benign/Likely benign 313147 rs201979429 14:36989306-36989306 14:36520101-36520101 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.190C>A (p.Leu64Ile) SNV Benign/Likely benign 695624 14:36988463-36988463 14:36519258-36519258 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.*179T>C SNV Benign 881936 14:36986304-36986304 14:36517099-36517099 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.*210T>A SNV Benign 313133 rs10139625 14:36986273-36986273 14:36517068-36517068 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.*579C>G SNV Benign 313124 rs566916288 14:36985904-36985904 14:36516699-36516699 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.464-2A>T SNV Benign 8978 rs587776708 14:36987227-36987227 14:36518022-36518022 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.-85G>T SNV Benign 313149 rs2076751 14:36989419-36989419 14:36520214-36520214 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.535G>T (p.Val179Leu) SNV Benign 313144 rs575848748 14:36987154-36987154 14:36517949-36517949 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.*436A>C SNV Benign 313130 rs79849967 14:36986047-36986047 14:36516842-36516842 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.*292dup duplication Benign 313131 rs140427692 14:36986190-36986191 14:36516985-36516986 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.1093G>T (p.Ala365Ser) SNV Benign 313140 rs147542347 14:36986596-36986596 14:36517391-36517391 CHR630 Chorea, Benign Hereditary NKX2-1 NM_001079668.3(NKX2-1):c.*209T>A SNV Benign 313134 rs572546897 14:36986274-36986274 14:36517069-36517069 CHR630 Chorea, Benign Hereditary NOTCH3 NM_000435.3(NOTCH3):c.3016C>T (p.Arg1006Cys) SNV Pathogenic 447823 rs1555727942 19:15291618-15291618 19:15180807-15180807 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) SNV Pathogenic 447794 rs75068032 19:15298084-15298084 19:15187273-15187273 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr) SNV Pathogenic 447849 rs1236699193 19:15303013-15303013 19:15192202-15192202 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys) SNV Pathogenic 447846 rs1174625611 19:15303029-15303029 19:15192218-15192218 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys) SNV Pathogenic 447831 rs775836288 19:15303200-15303200 19:15192389-15192389 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.268C>T (p.Arg90Cys) SNV Pathogenic 447816 rs1555729604 19:15303260-15303260 19:15192449-15192449 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.671G>A (p.Cys224Tyr) SNV Pathogenic 447868 rs1555729451 19:15302779-15302779 19:15191968-15191968 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NOTCH3, ARG141CYS undetermined variant Pathogenic 689454 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.3043T>C (p.Cys1015Arg) SNV Pathogenic 803539 19:15291591-15291591 19:15180780-15180780 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1594C>T (p.Arg532Cys) SNV Pathogenic 803540 19:15298704-15298704 19:15187893-15187893 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.213G>T (p.Trp71Cys) SNV Pathogenic 9218 rs28937321 19:15303315-15303315 19:15192504-15192504 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) SNV Pathogenic 9219 rs28933696 19:15302945-15302945 19:15192134-15192134 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys) SNV Pathogenic 9220 rs28933697 19:15302906-15302906 19:15192095-15192095 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.187G>A (p.Ala63Thr) SNV Pathogenic 9221 rs864621964 19:15308321-15308321 19:15197510-15197510 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.714_758del (p.Asp239_Asp253del) deletion Pathogenic 9222 rs864621965 19:15302600-15302644 19:15191789-15191833 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1363T>C (p.Cys455Arg) SNV Pathogenic 9223 rs28933698 19:15299815-15299815 19:15189004-15189004 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.994C>T (p.Arg332Cys) SNV Pathogenic 9224 rs137852641 19:15302277-15302277 19:15191466-15191466 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.2411-1G>T SNV Pathogenic 9226 rs864621966 19:15295262-15295262 19:15184451-15184451 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1282T>A (p.Cys428Ser) SNV Pathogenic 9228 rs267606915 19:15299896-15299896 19:15189085-15189085 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys) SNV Pathogenic 208501 rs797045014 19:15302993-15302993 19:15192182-15192182 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1187C>G (p.Ser396Cys) SNV Pathogenic 217882 rs863225297 19:15300089-15300089 19:15189278-15189278 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.224G>C (p.Arg75Pro) SNV Pathogenic 632306 rs145069047 19:15303304-15303304 19:15192493-15192493 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) SNV Pathogenic/Likely pathogenic 9225 rs137852642 19:15303053-15303053 19:15192242-15192242 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) SNV Pathogenic/Likely pathogenic 546089 rs201118034 19:15298126-15298126 19:15187315-15187315 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) SNV Pathogenic/Likely pathogenic 447862 rs775267348 19:15302831-15302831 19:15192020-15192020 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr) SNV Pathogenic/Likely pathogenic 447832 rs1555727841 19:15290914-15290914 19:15180103-15180103 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.164G>A (p.Cys55Tyr) SNV Pathogenic/Likely pathogenic 447793 rs1555730188 19:15308344-15308344 19:15197533-15197533 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1258G>T (p.Gly420Cys) SNV Pathogenic/Likely pathogenic 447778 rs1323608032 19:15299920-15299920 19:15189109-15189109 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) SNV Pathogenic/Likely pathogenic 374637 rs777751303 19:15297937-15297937 19:15187126-15187126 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.351C>G (p.Cys117Trp) SNV Likely pathogenic 585604 rs200881673 19:15303099-15303099 19:15192288-15192288 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.2932A>C (p.Ser978Arg) SNV Conflicting interpretations of pathogenicity 702452 19:15291834-15291834 19:15181023-15181023 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.831G>A (p.Glu277=) SNV Conflicting interpretations of pathogenicity 706004 19:15302440-15302440 19:15191629-15191629 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.2319C>T (p.Ser773=) SNV Conflicting interpretations of pathogenicity 789516 19:15295808-15295808 19:15184997-15184997 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.351C>T (p.Cys117=) SNV Conflicting interpretations of pathogenicity 789517 19:15303099-15303099 19:15192288-15192288 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.6603C>T (p.Pro2201=) SNV Conflicting interpretations of pathogenicity 713631 19:15271836-15271836 19:15161025-15161025 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.283A>C (p.Ser95Arg) SNV Conflicting interpretations of pathogenicity 798179 19:15303245-15303245 19:15192434-15192434 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1036+10C>T SNV Conflicting interpretations of pathogenicity 447773 rs776962888 19:15302225-15302225 19:15191414-15191414 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly) SNV Conflicting interpretations of pathogenicity 425164 rs199638166 19:15289890-15289890 19:15179079-15179079 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.4639C>G (p.Leu1547Val) SNV Conflicting interpretations of pathogenicity 522478 rs150037063 19:15284976-15284976 19:15174165-15174165 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met) SNV Conflicting interpretations of pathogenicity 808491 19:15272378-15272378 19:15161567-15161567 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.754G>A (p.Val252Met) SNV Conflicting interpretations of pathogenicity 804653 19:15302604-15302604 19:15191793-15191793 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) SNV Conflicting interpretations of pathogenicity 216972 rs201680145 19:15289863-15289863 19:15179052-15179052 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=) SNV Conflicting interpretations of pathogenicity 256135 rs78926093 19:15288695-15288695 19:15177884-15177884 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.4071C>T (p.Pro1357=) SNV Conflicting interpretations of pathogenicity 328390 rs542856470 19:15288668-15288668 19:15177857-15177857 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.2589G>A (p.Ser863=) SNV Conflicting interpretations of pathogenicity 328403 rs530503488 19:15292590-15292590 19:15181779-15181779 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1426A>T (p.Ser476Cys) SNV Conflicting interpretations of pathogenicity 328411 rs886054260 19:15299112-15299112 19:15188301-15188301 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.203C>T (p.Pro68Leu) SNV Conflicting interpretations of pathogenicity 328420 rs146810942 19:15303325-15303325 19:15192514-15192514 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.*608C>T SNV Uncertain significance 328362 rs577953923 19:15270865-15270865 19:15160054-15160054 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.6111C>T (p.His2037=) SNV Uncertain significance 328375 rs764620593 19:15272328-15272328 19:15161517-15161517 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.2082C>G (p.Pro694=) SNV Uncertain significance 328407 rs751758366 19:15296360-15296360 19:15185549-15185549 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.3120C>T (p.Cys1040=) SNV Uncertain significance 328398 rs372688320 19:15291514-15291514 19:15180703-15180703 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.6166G>A (p.Ala2056Thr) SNV Uncertain significance 328374 rs556851818 19:15272273-15272273 19:15161462-15161462 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.4426G>A (p.Ala1476Thr) SNV Uncertain significance 328387 rs886054255 19:15285189-15285189 19:15174378-15174378 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.3921G>C (p.Thr1307=) SNV Uncertain significance 328391 rs886054257 19:15288818-15288818 19:15178007-15178007 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.5501G>A (p.Arg1834Gln) SNV Uncertain significance 328381 rs202027632 19:15276764-15276764 19:15165953-15165953 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1192+14C>T SNV Uncertain significance 328412 rs761651631 19:15300070-15300070 19:15189259-15189259 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.874T>G (p.Phe292Val) SNV Uncertain significance 328415 rs886054261 19:15302397-15302397 19:15191586-15191586 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.*354_*355dup duplication Uncertain significance 328367 rs59869411 19:15271117-15271118 19:15160306-15160307 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.6532C>T (p.Pro2178Ser) SNV Uncertain significance 328372 rs751951476 19:15271907-15271907 19:15161096-15161096 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.6506C>G (p.Pro2169Arg) SNV Uncertain significance 328373 rs886054252 19:15271933-15271933 19:15161122-15161122 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.5789C>T (p.Ala1930Val) SNV Uncertain significance 328376 rs886054253 19:15276205-15276205 19:15165394-15165394 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.4444G>C (p.Gly1482Arg) SNV Uncertain significance 328385 rs202085803 19:15285171-15285171 19:15174360-15174360 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.4427C>T (p.Ala1476Val) SNV Uncertain significance 328386 rs886054254 19:15285188-15285188 19:15174377-15174377 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.3256G>A (p.Asp1086Asn) SNV Uncertain significance 328397 rs781765705 19:15290954-15290954 19:15180143-15180143 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.2793-14T>C SNV Uncertain significance 328400 rs886054258 19:15291987-15291987 19:15181176-15181176 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.2738C>T (p.Pro913Leu) SNV Uncertain significance 328402 rs370422650 19:15292441-15292441 19:15181630-15181630 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.4092G>A (p.Ala1364=) SNV Uncertain significance 328389 rs886054256 19:15288647-15288647 19:15177836-15177836 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.-47C>G SNV Uncertain significance 328421 rs886054262 19:15311763-15311763 19:15200952-15200952 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.2831A>G (p.Asn944Ser) SNV Uncertain significance 328399 rs754545176 19:15291935-15291935 19:15181124-15181124 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.2588C>T (p.Ser863Leu) SNV Uncertain significance 328404 rs758913191 19:15292591-15292591 19:15181780-15181780 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.2329C>T (p.Pro777Ser) SNV Uncertain significance 328406 rs886054259 19:15295798-15295798 19:15184987-15184987 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.*382T>G SNV Uncertain significance 328365 rs886054250 19:15271091-15271091 19:15160280-15160280 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1649C>T (p.Ser550Phe) SNV Uncertain significance 892108 19:15298107-15298107 19:15187296-15187296 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.2051C>T (p.Pro684Leu) SNV Uncertain significance 890873 19:15296391-15296391 19:15185580-15185580 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.6913A>G (p.Thr2305Ala) SNV Uncertain significance 891937 19:15271526-15271526 19:15160715-15160715 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.*279C>T SNV Uncertain significance 891935 19:15271194-15271194 19:15160383-15160383 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.*306C>T SNV Uncertain significance 890686 19:15271167-15271167 19:15160356-15160356 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.*517C>T SNV Uncertain significance 890684 19:15270956-15270956 19:15160145-15160145 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.*656T>C SNV Uncertain significance 890107 19:15270817-15270817 19:15160006-15160006 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.*717C>G SNV Uncertain significance 890106 19:15270756-15270756 19:15159945-15159945 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.3230C>T (p.Thr1077Ile) SNV Uncertain significance 873516 19:15290980-15290980 19:15180169-15180169 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1631G>A (p.Arg544His) SNV Uncertain significance 804622 19:15298125-15298125 19:15187314-15187314 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.-57G>A SNV Uncertain significance 888718 19:15311773-15311773 19:15200962-15200962 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.2T>A (p.Met1Lys) SNV Uncertain significance 888717 19:15311715-15311715 19:15200904-15200904 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.15C>T (p.Ala5=) SNV Uncertain significance 888716 19:15311702-15311702 19:15200891-15200891 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.63G>A (p.Pro21=) SNV Uncertain significance 888715 19:15311654-15311654 19:15200843-15200843 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.120C>T (p.Ala40=) SNV Uncertain significance 892160 19:15308388-15308388 19:15197577-15197577 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.139A>G (p.Ser47Gly) SNV Uncertain significance 892159 19:15308369-15308369 19:15197558-15197558 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.438C>T (p.Cys146=) SNV Uncertain significance 890926 19:15303012-15303012 19:15192201-15192201 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.708C>T (p.Asn236=) SNV Uncertain significance 890924 19:15302650-15302650 19:15191839-15191839 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1334C>T (p.Thr445Met) SNV Uncertain significance 888662 19:15299844-15299844 19:15189033-15189033 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1375G>A (p.Ala459Thr) SNV Uncertain significance 888661 19:15299803-15299803 19:15188992-15188992 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.2455C>G (p.Pro819Ala) SNV Uncertain significance 890311 19:15295217-15295217 19:15184406-15184406 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.2519G>A (p.Gly840Glu) SNV Uncertain significance 888608 19:15295153-15295153 19:15184342-15184342 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.2900T>C (p.Leu967Pro) SNV Uncertain significance 892071 19:15291866-15291866 19:15181055-15181055 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.2906G>A (p.Arg969Gln) SNV Uncertain significance 892070 19:15291860-15291860 19:15181049-15181049 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.3751G>C (p.Glu1251Gln) SNV Uncertain significance 890261 19:15289720-15289720 19:15178909-15178909 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.3930G>T (p.Gly1310=) SNV Uncertain significance 890259 19:15288809-15288809 19:15177998-15177998 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.3964C>T (p.Pro1322Ser) SNV Uncertain significance 889618 19:15288775-15288775 19:15177964-15177964 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.4039G>C (p.Gly1347Arg) SNV Uncertain significance 889617 19:15288700-15288700 19:15177889-15177889 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.4227C>T (p.Gly1409=) SNV Uncertain significance 889616 19:15288512-15288512 19:15177701-15177701 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.4914A>G (p.Glu1638=) SNV Uncertain significance 890786 19:15281342-15281342 19:15170531-15170531 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.5137C>T (p.Leu1713=) SNV Uncertain significance 890785 19:15280959-15280959 19:15170148-15170148 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.5336G>A (p.Gly1779Asp) SNV Uncertain significance 890784 19:15278086-15278086 19:15167275-15167275 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.5375C>T (p.Pro1792Leu) SNV Uncertain significance 890211 19:15276890-15276890 19:15166079-15166079 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.5396G>A (p.Cys1799Tyr) SNV Uncertain significance 890210 19:15276869-15276869 19:15166058-15166058 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.5548G>A (p.Ala1850Thr) SNV Uncertain significance 889554 19:15276717-15276717 19:15165906-15165906 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.5646C>T (p.Ala1882=) SNV Uncertain significance 889553 19:15276619-15276619 19:15165808-15165808 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.5684G>A (p.Arg1895His) SNV Uncertain significance 889552 19:15276310-15276310 19:15165499-15165499 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.5705G>A (p.Arg1902His) SNV Uncertain significance 889551 19:15276289-15276289 19:15165478-15165478 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.5926C>T (p.Leu1976=) SNV Uncertain significance 891981 19:15272513-15272513 19:15161702-15161702 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.5952C>T (p.Ser1984=) SNV Uncertain significance 891980 19:15272487-15272487 19:15161676-15161676 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.6174G>A (p.Ser2058=) SNV Uncertain significance 890742 19:15272265-15272265 19:15161454-15161454 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.6209C>T (p.Ala2070Val) SNV Uncertain significance 890741 19:15272230-15272230 19:15161419-15161419 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.6325C>T (p.Arg2109Trp) SNV Uncertain significance 890164 19:15272114-15272114 19:15161303-15161303 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.6334G>A (p.Gly2112Ser) SNV Uncertain significance 890163 19:15272105-15272105 19:15161294-15161294 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.6429A>G (p.Pro2143=) SNV Uncertain significance 890162 19:15272010-15272010 19:15161199-15161199 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.6770G>A (p.Ser2257Asn) SNV Uncertain significance 889493 19:15271669-15271669 19:15160858-15160858 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu) SNV Uncertain significance 101050 rs371491165 19:15302999-15302999 19:15192188-15192188 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.6619C>T (p.Arg2207Trp) SNV Uncertain significance 808490 19:15271820-15271820 19:15161009-15161009 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.5363-5T>G SNV Uncertain significance 890783 19:15276907-15276907 19:15166096-15166096 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.6239G>A (p.Arg2080Gln) SNV Uncertain significance 522479 rs759896413 19:15272200-15272200 19:15161389-15161389 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.4320C>G (p.Ser1440Arg) SNV Uncertain significance 803538 19:15288419-15288419 19:15177608-15177608 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.3645C>T (p.His1215=) SNV Likely benign 733443 19:15289909-15289909 19:15179098-15179098 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.5129G>A (p.Gly1710Asp) SNV Likely benign 804640 19:15280967-15280967 19:15170156-15170156 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.*3C>T SNV Likely benign 447771 rs202157455 19:15271470-15271470 19:15160659-15160659 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1920C>T (p.Arg640=) SNV Likely benign 447801 rs140818133 19:15297720-15297720 19:15186909-15186909 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.3837+11G>A SNV Likely benign 890260 19:15289623-15289623 19:15178812-15178812 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.3718+7G>A SNV Likely benign 890263 19:15289829-15289829 19:15179018-15179018 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.6774C>T (p.Pro2258=) SNV Likely benign 889492 19:15271665-15271665 19:15160854-15160854 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.5484G>A (p.Gly1828=) SNV Likely benign 890209 19:15276781-15276781 19:15165970-15165970 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1500C>T (p.Ser500=) SNV Likely benign 892110 19:15298798-15298798 19:15187987-15187987 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.415G>A (p.Asp139Asn) SNV Likely benign 892158 19:15303035-15303035 19:15192224-15192224 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.2280C>T (p.Cys760=) SNV Likely benign 890312 19:15296084-15296084 19:15185273-15185273 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1692C>T (p.Ala564=) SNV Likely benign 890874 19:15298064-15298064 19:15187253-15187253 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.*937T>C SNV Likely benign 328356 rs16980378 19:15270536-15270536 19:15159725-15159725 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1760G>A (p.Arg587His) SNV Likely benign 328408 rs142787620 19:15297996-15297996 19:15187185-15187185 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.*96C>T SNV Likely benign 328369 rs117165744 19:15271377-15271377 19:15160566-15160566 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.3523C>T (p.Arg1175Trp) SNV Likely benign 328395 rs200504060 19:15290031-15290031 19:15179220-15179220 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.5779G>A (p.Ala1927Thr) SNV Likely benign 328377 rs748889237 19:15276215-15276215 19:15165404-15165404 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.945C>T (p.Ile315=) SNV Likely benign 328414 rs116239440 19:15302326-15302326 19:15191515-15191515 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.4725C>A (p.Pro1575=) SNV Likely benign 328384 rs374042078 19:15284890-15284890 19:15174079-15174079 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.3659G>A (p.Arg1220Gln) SNV Likely benign 328394 rs370233852 19:15289895-15289895 19:15179084-15179084 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.5466C>T (p.Ser1822=) SNV Likely benign 328382 rs148053028 19:15276799-15276799 19:15165988-15165988 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.*563T>C SNV Likely benign 328363 rs77669983 19:15270910-15270910 19:15160099-15160099 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.5570G>A (p.Arg1857Gln) SNV Likely benign 328380 rs200883235 19:15276695-15276695 19:15165884-15165884 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.6611C>T (p.Pro2204Leu) SNV Likely benign 328371 rs371738874 19:15271828-15271828 19:15161017-15161017 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.964G>A (p.Val322Met) SNV Likely benign 328413 rs115029695 19:15302307-15302307 19:15191496-15191496 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.3704A>T (p.His1235Leu) SNV Benign/Likely benign 328393 rs55882518 19:15289850-15289850 19:15179039-15179039 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1620G>T (p.Thr540=) SNV Benign/Likely benign 328410 rs75617410 19:15298136-15298136 19:15187325-15187325 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.5376G>A (p.Pro1792=) SNV Benign/Likely benign 328383 rs374875084 19:15276889-15276889 19:15166078-15166078 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.660C>T (p.Tyr220=) SNV Benign/Likely benign 328417 rs114457076 19:15302790-15302790 19:15191979-15191979 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.4348G>A (p.Ala1450Thr) SNV Benign/Likely benign 328388 rs201082692 19:15288391-15288391 19:15177580-15177580 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1690G>A (p.Ala564Thr) SNV Benign/Likely benign 328409 rs374767079 19:15298066-15298066 19:15187255-15187255 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.3719-11C>T SNV Benign/Likely benign 328392 rs78907190 19:15289763-15289763 19:15178952-15178952 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.825G>A (p.Val275=) SNV Benign/Likely benign 328416 rs138837495 19:15302446-15302446 19:15191635-15191635 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) SNV Benign/Likely benign 328418 rs147373451 19:15302941-15302941 19:15192130-15192130 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.338G>A (p.Arg113Gln) SNV Benign/Likely benign 328419 rs143385744 19:15303190-15303190 19:15192379-15192379 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1490C>T (p.Ser497Leu) SNV Benign/Likely benign 256121 rs114207045 19:15299048-15299048 19:15188237-15188237 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.2411-4C>G SNV Benign/Likely benign 256128 rs190177286 19:15295265-15295265 19:15184454-15184454 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met) SNV Benign/Likely benign 256137 rs141320511 19:15285063-15285063 19:15174252-15174252 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.4679G>C (p.Arg1560Pro) SNV Benign/Likely benign 256139 rs78501403 19:15284936-15284936 19:15174125-15174125 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.6031G>A (p.Val2011Ile) SNV Benign/Likely benign 256147 rs142007575 19:15272408-15272408 19:15161597-15161597 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1725G>C (p.Thr575=) SNV Benign/Likely benign 447796 rs79926127 19:15298031-15298031 19:15187220-15187220 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met) SNV Benign/Likely benign 447870 rs148716935 19:15271630-15271630 19:15160819-15160819 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.6237G>A (p.Gly2079=) SNV Benign/Likely benign 447863 rs376598183 19:15272202-15272202 19:15161391-15161391 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.5992C>T (p.Arg1998Cys) SNV Benign/Likely benign 706121 19:15272447-15272447 19:15161636-15161636 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.850G>A (p.Ala284Thr) SNV Benign 714766 19:15302421-15302421 19:15191610-15191610 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.2163G>A (p.Glu721=) SNV Benign 804629 19:15296201-15296201 19:15185390-15185390 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1677C>T (p.Cys559=) SNV Benign 804623 19:15298079-15298079 19:15187268-15187268 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.6569C>T (p.Ala2190Val) SNV Benign 803537 19:15271870-15271870 19:15161059-15161059 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.*4G>A SNV Benign 447772 rs182111655 19:15271469-15271469 19:15160658-15160658 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met) SNV Benign 256146 rs115582213 19:15273335-15273335 19:15162524-15162524 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.5816-8T>C SNV Benign 256145 rs4809030 19:15273381-15273381 19:15162570-15162570 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.5526T>C (p.Ala1842=) SNV Benign 256144 rs16980398 19:15276739-15276739 19:15165928-15165928 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.5400G>T (p.Gly1800=) SNV Benign 256143 rs34480308 19:15276865-15276865 19:15166054-15166054 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.5370C>T (p.Phe1790=) SNV Benign 256142 rs35887416 19:15276895-15276895 19:15166084-15166084 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.6813T>C (p.Pro2271=) SNV Benign 256154 rs61731974 19:15271626-15271626 19:15160815-15160815 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.6753C>T (p.Ser2251=) SNV Benign 256153 rs61731975 19:15271686-15271686 19:15160875-15160875 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.6668C>T (p.Ala2223Val) SNV Benign 256152 rs1044009 19:15271771-15271771 19:15160960-15160960 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.6438G>A (p.Ala2146=) SNV Benign 256151 rs1044008 19:15272001-15272001 19:15161190-15161190 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.6221C>T (p.Pro2074Leu) SNV Benign 256150 rs114447350 19:15272218-15272218 19:15161407-15161407 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.6102C>T (p.Pro2034=) SNV Benign 256149 rs114887570 19:15272337-15272337 19:15161526-15161526 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.3327+11G>A SNV Benign 890830 19:15290872-15290872 19:15180061-15180061 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro) SNV Benign 9227 rs35769976 19:15291576-15291576 19:15180765-15180765 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.3718+13G>T SNV Benign 890262 19:15289823-15289823 19:15179012-15179012 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.4563A>G (p.Pro1521=) SNV Benign 256138 rs1044006 19:15285052-15285052 19:15174241-15174241 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.5362+3T>C SNV Benign 256140 rs1548555 19:15278057-15278057 19:15167246-15167246 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.*463G>A SNV Benign 890685 19:15271010-15271010 19:15160199-15160199 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.*85G>T SNV Benign 891936 19:15271388-15271388 19:15160577-15160577 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.2202C>T (p.Ala734=) SNV Benign 256126 rs140040122 19:15296162-15296162 19:15185351-15185351 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.2039G>A (p.Arg680His) SNV Benign 256125 rs10406745 19:15296403-15296403 19:15185592-15185592 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1782C>T (p.Gly594=) SNV Benign 256123 rs35793356 19:15297974-15297974 19:15187163-15187163 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1725G>A (p.Thr575=) SNV Benign 256122 rs79926127 19:15298031-15298031 19:15187220-15187220 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.3547G>A (p.Val1183Met) SNV Benign 256133 rs10408676 19:15290007-15290007 19:15179196-15179196 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.3399C>A (p.His1133Gln) SNV Benign 256132 rs112197217 19:15290236-15290236 19:15179425-15179425 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.2742A>G (p.Pro914=) SNV Benign 256130 rs1043997 19:15292437-15292437 19:15181626-15181626 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.2538C>T (p.Cys846=) SNV Benign 256129 rs1043996 19:15295134-15295134 19:15184323-15184323 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu) SNV Benign 256120 rs11670799 19:15299051-15299051 19:15188240-15188240 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1192+15A>G SNV Benign 256118 rs10423702 19:15300069-15300069 19:15189258-15189258 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1140T>C (p.Pro380=) SNV Benign 256117 rs61749020 19:15300136-15300136 19:15189325-15189325 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.606A>G (p.Ala202=) SNV Benign 256148 rs1043994 19:15302844-15302844 19:15192033-15192033 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.303C>T (p.Thr101=) SNV Benign 256131 rs3815188 19:15303225-15303225 19:15192414-15192414 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.*890C>T SNV Benign 328357 rs1044123 19:15270583-15270583 19:15159772-15159772 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.*837G>A SNV Benign 328359 rs12082 19:15270636-15270636 19:15159825-15159825 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.*370A>G SNV Benign 328366 rs139792065 19:15271103-15271103 19:15160292-15160292 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1567G>A (p.Val523Met) SNV Benign 892109 19:15298731-15298731 19:15187920-15187920 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1194C>T (p.Gly398=) SNV Benign 888663 19:15299984-15299984 19:15189173-15189173 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.593C>T (p.Ala198Val) SNV Benign 890925 19:15302857-15302857 19:15192046-15192046 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.2792+6C>T SNV Benign 328401 rs376329316 19:15292381-15292381 19:15181570-15181570 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.*845G>T SNV Benign 328358 rs571584841 19:15270628-15270628 19:15159817-15159817 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.*808G>A SNV Benign 328360 rs1044116 19:15270665-15270665 19:15159854-15159854 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.*23T>A SNV Benign 328370 rs73504084 19:15271450-15271450 19:15160639-15160639 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.*544C>T SNV Benign 328364 rs368577217 19:15270929-15270929 19:15160118-15160118 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.*338A>C SNV Benign 328368 rs7247906 19:15271135-15271135 19:15160324-15160324 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.5678G>A (p.Arg1893Gln) SNV Benign 328378 rs372834264 19:15276316-15276316 19:15165505-15165505 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.5668-11C>T SNV Benign 328379 rs199850662 19:15276337-15276337 19:15165526-15165526 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.2580C>T (p.Asn860=) SNV Benign 328405 rs201436750 19:15292599-15292599 19:15181788-15181788 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.3461-15C>T SNV Benign 328396 rs564737009 19:15290108-15290108 19:15179297-15179297 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.*668G>T SNV Benign 328361 rs1044055 19:15270805-15270805 19:15159994-15159994 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1345C>T (p.Arg449Cys) SNV not provided 810777 19:15299833-15299833 19:15189022-15189022 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1279C>T (p.Arg427Cys) SNV not provided 810779 19:15299899-15299899 19:15189088-15189088 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.719G>A (p.Cys240Tyr) SNV not provided 810778 19:15302639-15302639 19:15191828-15191828 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.520T>C (p.Cys174Arg) SNV not provided 810776 19:15302930-15302930 19:15192119-15192119 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.386C>T (p.Ala129Val) SNV not provided 810775 19:15303064-15303064 19:15192253-15192253 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 NOTCH3 NM_000435.3(NOTCH3):c.1918C>T (p.Arg640Cys) SNV not provided 870211 19:15297722-15297722 19:15186911-15186911 CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 COL4A1 NM_001845.6(COL4A1):c.3104G>T (p.Gly1035Val) SNV Pathogenic 440782 rs1555302922 13:110827659-110827659 13:110175312-110175312 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.1353dup (p.Gly452fs) duplication Pathogenic 807559 13:110847397-110847398 13:110195050-110195051 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.3706G>A (p.Gly1236Arg) SNV Pathogenic 17412 rs113994112 13:110822930-110822930 13:110170583-110170583 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser) SNV Pathogenic 17413 rs113994109 13:110831717-110831717 13:110179370-110179370 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.1685G>A (p.Gly562Glu) SNV Pathogenic 17414 rs121912857 13:110839528-110839528 13:110187181-110187181 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.1A>T (p.Met1Leu) SNV Pathogenic 17415 rs113994103 13:110959374-110959374 13:110307027-110307027 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.3389G>A (p.Gly1130Asp) SNV Pathogenic 17416 rs113994111 13:110826810-110826810 13:110174463-110174463 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.4267G>C (p.Gly1423Arg) SNV Pathogenic 17417 rs113994113 13:110814772-110814772 13:110162425-110162425 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2159G>A (p.Gly720Asp) SNV Pathogenic 17421 rs113994108 13:110833673-110833673 13:110181326-110181326 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.4738G>C (p.Gly1580Arg) SNV Pathogenic 17422 rs113994114 13:110807647-110807647 13:110155300-110155300 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.1769G>A (p.Gly590Glu) SNV Pathogenic 38962 rs113994107 13:110838860-110838860 13:110186513-110186513 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.3976G>A (p.Gly1326Arg) SNV Pathogenic 132791 rs587777379 13:110818624-110818624 13:110166277-110166277 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) SNV Pathogenic 135653 rs587780588 13:110835349-110835349 13:110183002-110183002 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2085del (p.Gly696fs) deletion Pathogenic 161440 rs606231464 13:110835350-110835350 13:110183003-110183003 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2194-1G>A SNV Pathogenic 161441 rs606231465 13:110831769-110831769 13:110179422-110179422 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg) SNV Pathogenic 161974 rs672601346 13:110831699-110831699 13:110179352-110179352 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2317G>C (p.Gly773Arg) SNV Pathogenic 161975 rs672601347 13:110831645-110831645 13:110179298-110179298 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.4881C>G (p.Asn1627Lys) SNV Pathogenic 161976 rs672601348 13:110804728-110804728 13:110152381-110152381 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2122G>A (p.Gly708Arg) SNV Pathogenic 161977 rs672601349 13:110833710-110833710 13:110181363-110181363 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg) SNV Pathogenic/Likely pathogenic 209141 rs797045034 13:110830243-110830243 13:110177896-110177896 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2228G>T (p.Gly743Val) SNV Pathogenic/Likely pathogenic 389182 rs1057523354 13:110831734-110831734 13:110179387-110179387 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.3555A>G (p.Lys1185=) SNV Likely pathogenic 374263 rs1057518654 13:110825068-110825068 13:110172721-110172721 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.1462del (p.Glu487_Ile488insTer) deletion Likely pathogenic 827790 13:110845180-110845180 13:110192833-110192833 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2842G>C (p.Gly948Arg) SNV Likely pathogenic 864857 13:110829259-110829259 13:110176912-110176912 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2078G>A (p.Gly693Glu) SNV Likely pathogenic 434810 rs1555303720 13:110835357-110835357 13:110183010-110183010 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2185G>C (p.Gly729Arg) SNV Likely pathogenic 637033 13:110833647-110833647 13:110181300-110181300 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.3946C>G (p.Gln1316Glu) SNV Conflicting interpretations of pathogenicity 418141 rs377122126 13:110819508-110819508 13:110167161-110167161 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.1838C>G (p.Pro613Arg) SNV Conflicting interpretations of pathogenicity 447159 rs146091004 13:110838791-110838791 13:110186444-110186444 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.1466-6C>T SNV Conflicting interpretations of pathogenicity 195811 rs183563055 13:110844637-110844637 13:110192290-110192290 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) SNV Conflicting interpretations of pathogenicity 195868 rs145172612 13:110839625-110839625 13:110187278-110187278 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) SNV Conflicting interpretations of pathogenicity 196327 rs34004222 13:110866346-110866346 13:110213999-110213999 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2160C>T (p.Gly720=) SNV Conflicting interpretations of pathogenicity 311055 rs781133776 13:110833672-110833672 13:110181325-110181325 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.388-11T>C SNV Conflicting interpretations of pathogenicity 311079 rs201801894 13:110864280-110864280 13:110211933-110211933 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2968+12A>G SNV Conflicting interpretations of pathogenicity 311046 rs752476229 13:110828961-110828961 13:110176614-110176614 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.4442G>A (p.Arg1481Gln) SNV Conflicting interpretations of pathogenicity 311022 rs376607450 13:110814597-110814597 13:110162250-110162250 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.4271C>T (p.Pro1424Leu) SNV Conflicting interpretations of pathogenicity 311024 rs760889798 13:110814768-110814768 13:110162421-110162421 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.4441C>T (p.Arg1481Trp) SNV Conflicting interpretations of pathogenicity 311023 rs199586038 13:110814598-110814598 13:110162251-110162251 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.1858G>C (p.Ala620Pro) SNV Conflicting interpretations of pathogenicity 311061 rs372803920 13:110838771-110838771 13:110186424-110186424 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.553-8C>T SNV Conflicting interpretations of pathogenicity 311076 rs199534388 13:110862397-110862397 13:110210050-110210050 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.-103G>A SNV Conflicting interpretations of pathogenicity 311088 rs538721412 13:110959477-110959477 13:110307130-110307130 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.3431C>G (p.Thr1144Arg) SNV Conflicting interpretations of pathogenicity 311039 rs769021800 13:110826321-110826321 13:110173974-110173974 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2126C>T (p.Pro709Leu) SNV Conflicting interpretations of pathogenicity 311056 rs150129180 13:110833706-110833706 13:110181359-110181359 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2007C>T (p.Pro669=) SNV Conflicting interpretations of pathogenicity 311060 rs145645897 13:110835428-110835428 13:110183081-110183081 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.1385A>G (p.Gln462Arg) SNV Conflicting interpretations of pathogenicity 311063 rs750386918 13:110845257-110845257 13:110192910-110192910 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.1000-5T>G SNV Conflicting interpretations of pathogenicity 311065 rs75711155 13:110853874-110853874 13:110201527-110201527 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.280-12C>T SNV Conflicting interpretations of pathogenicity 311082 rs200121908 13:110864977-110864977 13:110212630-110212630 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.*1099G>A SNV Conflicting interpretations of pathogenicity 311003 rs193065628 13:110801611-110801611 13:110149264-110149264 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.*265A>G SNV Conflicting interpretations of pathogenicity 311015 rs555157539 13:110802445-110802445 13:110150098-110150098 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.3164C>T (p.Pro1055Leu) SNV Conflicting interpretations of pathogenicity 311044 rs375787099 13:110827599-110827599 13:110175252-110175252 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2344+11G>A SNV Uncertain significance 311053 rs886049960 13:110831607-110831607 13:110179260-110179260 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.*6C>G SNV Uncertain significance 311018 rs762512053 13:110802704-110802704 13:110150357-110150357 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2262C>T (p.Pro754=) SNV Uncertain significance 311054 rs750538499 13:110831700-110831700 13:110179353-110179353 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.*1039A>G SNV Uncertain significance 311004 rs776016334 13:110801671-110801671 13:110149324-110149324 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.-20G>T SNV Uncertain significance 311085 rs886049965 13:110959394-110959394 13:110307047-110307047 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.4038T>C (p.Pro1346=) SNV Uncertain significance 311028 rs372556002 13:110817321-110817321 13:110164974-110164974 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.*634_*635AT[8] short repeat Uncertain significance 311009 rs886049952 13:110802062-110802063 13:110149715-110149716 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2706G>A (p.Pro902=) SNV Uncertain significance 311050 rs754208625 13:110830199-110830199 13:110177852-110177852 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2095+7C>G SNV Uncertain significance 311059 rs886049961 13:110835333-110835333 13:110182986-110182986 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.766A>G (p.Thr256Ala) SNV Uncertain significance 311072 rs886049962 13:110859764-110859764 13:110207417-110207417 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.380G>T (p.Gly127Val) SNV Uncertain significance 311080 rs886049963 13:110864771-110864771 13:110212424-110212424 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.3557-14T>C SNV Uncertain significance 311037 rs886049957 13:110823093-110823093 13:110170746-110170746 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.3241A>G (p.Lys1081Glu) SNV Uncertain significance 311042 rs886049958 13:110827054-110827054 13:110174707-110174707 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2732C>T (p.Pro911Leu) SNV Uncertain significance 311049 rs778143775 13:110829369-110829369 13:110177022-110177022 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.*531T>A SNV Uncertain significance 311012 rs886049953 13:110802179-110802179 13:110149832-110149832 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.*510A>G SNV Uncertain significance 311013 rs886049954 13:110802200-110802200 13:110149853-110149853 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.*477G>T SNV Uncertain significance 311014 rs886049955 13:110802233-110802233 13:110149886-110149886 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.82A>G (p.Lys28Glu) SNV Uncertain significance 311083 rs886049964 13:110959293-110959293 13:110306946-110306946 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.-71C>G SNV Uncertain significance 311086 rs867117624 13:110959445-110959445 13:110307098-110307098 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.*887del deletion Uncertain significance 311007 rs886049951 13:110801823-110801823 13:110149476-110149476 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) SNV Uncertain significance 289628 rs751749989 13:110959368-110959368 13:110307021-110307021 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.*137G>A SNV Uncertain significance 311017 rs886049956 13:110802573-110802573 13:110150226-110150226 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.4021+14T>A SNV Uncertain significance 311029 rs755709828 13:110818565-110818565 13:110166218-110166218 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.3742+14G>A SNV Uncertain significance 311035 rs377503687 13:110822880-110822880 13:110170533-110170533 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.3018T>G (p.Leu1006=) SNV Uncertain significance 311045 rs886049959 13:110828811-110828811 13:110176464-110176464 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln) SNV Uncertain significance 196947 rs146288748 13:110829038-110829038 13:110176691-110176691 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2344+12C>A SNV Uncertain significance 882176 13:110831606-110831606 13:110179259-110179259 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.957+6C>T SNV Uncertain significance 882271 13:110857694-110857694 13:110205347-110205347 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.234+9G>A SNV Uncertain significance 882373 13:110866264-110866264 13:110213917-110213917 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.409C>T (p.Pro137Ser) SNV Uncertain significance 883375 13:110864248-110864248 13:110211901-110211901 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.354C>T (p.Gly118=) SNV Uncertain significance 881017 13:110864797-110864797 13:110212450-110212450 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.-90G>A SNV Uncertain significance 881059 13:110959464-110959464 13:110307117-110307117 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.-101G>T SNV Uncertain significance 881060 13:110959475-110959475 13:110307128-110307128 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2594A>G (p.Gln865Arg) SNV Uncertain significance 880784 13:110830443-110830443 13:110178096-110178096 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2492C>T (p.Pro831Leu) SNV Uncertain significance 880786 13:110830545-110830545 13:110178198-110178198 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2016A>G (p.Pro672=) SNV Uncertain significance 884135 13:110835419-110835419 13:110183072-110183072 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.1752G>A (p.Glu584=) SNV Uncertain significance 880844 13:110838877-110838877 13:110186530-110186530 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.1605C>T (p.Phe535=) SNV Uncertain significance 882232 13:110839608-110839608 13:110187261-110187261 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.1470C>T (p.Phe490=) SNV Uncertain significance 882475 13:110844627-110844627 13:110192280-110192280 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.3353G>A (p.Gly1118Asp) SNV Uncertain significance 560984 rs1566349690 13:110826846-110826846 13:110174499-110174499 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.1056G>A (p.Pro352=) SNV Uncertain significance 585510 rs531373470 13:110853813-110853813 13:110201466-110201466 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.495T>A (p.His165Gln) SNV Uncertain significance 596296 rs762125888 13:110862533-110862533 13:110210186-110210186 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2093A>G (p.Lys698Arg) SNV Uncertain significance 447160 rs375318302 13:110835342-110835342 13:110182995-110182995 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.*995C>T SNV Uncertain significance 881414 13:110801715-110801715 13:110149368-110149368 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.*952A>G SNV Uncertain significance 881849 13:110801758-110801758 13:110149411-110149411 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.*530A>G SNV Uncertain significance 883019 13:110802180-110802180 13:110149833-110149833 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.*433T>G SNV Uncertain significance 883801 13:110802277-110802277 13:110149930-110149930 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.4928A>G (p.Lys1643Arg) SNV Uncertain significance 881914 13:110804681-110804681 13:110152334-110152334 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.4591A>G (p.Met1531Val) SNV Uncertain significance 883090 13:110813588-110813588 13:110161241-110161241 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.4166T>C (p.Val1389Ala) SNV Uncertain significance 880572 13:110815893-110815893 13:110163546-110163546 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.3329G>T (p.Ser1110Ile) SNV Uncertain significance 883215 13:110826870-110826870 13:110174523-110174523 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.3238G>A (p.Glu1080Lys) SNV Uncertain significance 884005 13:110827057-110827057 13:110174710-110174710 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2774A>G (p.Asp925Gly) SNV Uncertain significance 883266 13:110829327-110829327 13:110176980-110176980 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.3054G>A (p.Leu1018=) SNV Likely benign 880719 13:110828775-110828775 13:110176428-110176428 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2985A>G (p.Pro995=) SNV Likely benign 882119 13:110828844-110828844 13:110176497-110176497 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.1110C>T (p.Pro370=) SNV Likely benign 760949 13:110853211-110853211 13:110200864-110200864 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.145-5T>C SNV Likely benign 743784 13:110866367-110866367 13:110214020-110214020 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2571G>A (p.Ser857=) SNV Likely benign 880785 13:110830466-110830466 13:110178119-110178119 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.3743-15C>T SNV Likely benign 880648 13:110822124-110822124 13:110169777-110169777 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.-13C>G SNV Likely benign 311084 rs60069761 13:110959387-110959387 13:110307040-110307040 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A2 NM_001845.6(COL4A1):c.-13C>G SNV Likely benign 311084 rs60069761 13:110959387-110959387 13:110307040-110307040 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.994G>C (p.Gly332Arg) SNV Likely benign 311067 rs150182714 13:110855918-110855918 13:110203571-110203571 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2285T>C (p.Val762Ala) SNV Likely benign 882178 13:110831677-110831677 13:110179330-110179330 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr) SNV Likely benign 311081 rs138269346 13:110864822-110864822 13:110212475-110212475 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001846.4(COL4A2):c.-101G>A SNV Likely benign 311094 rs528084465 13:110959819-110959819 13:110307472-110307472 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A2 NM_001846.4(COL4A2):c.-101G>A SNV Likely benign 311094 rs528084465 13:110959819-110959819 13:110307472-110307472 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.5(COL4A1):c.*1404T>C SNV Likely benign 369034 rs56406633 13:110801306-110801306 13:110148959-110148959 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.1673C>T (p.Ala558Val) SNV Benign/Likely benign 311062 rs200252122 13:110839540-110839540 13:110187193-110187193 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.1000-13C>G SNV Benign/Likely benign 311066 rs115358624 13:110853882-110853882 13:110201535-110201535 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.904-9C>T SNV Benign/Likely benign 311069 rs201481886 13:110857762-110857762 13:110205415-110205415 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.781-12G>A SNV Benign/Likely benign 311071 rs202198648 13:110859250-110859250 13:110206903-110206903 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.651+4_651+5insCAC insertion Benign/Likely benign 311075 rs760194800 13:110861734-110861735 13:110209387-110209388 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2647G>A (p.Val883Ile) SNV Benign/Likely benign 311051 rs41275090 13:110830258-110830258 13:110177911-110177911 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.4250-12C>T SNV Benign/Likely benign 311025 rs202055679 13:110814801-110814801 13:110162454-110162454 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.4229T>C (p.Met1410Thr) SNV Benign/Likely benign 311026 rs200734000 13:110815830-110815830 13:110163483-110163483 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.4010C>T (p.Pro1337Leu) SNV Benign/Likely benign 311030 rs189728415 13:110818590-110818590 13:110166243-110166243 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.3949+10C>T SNV Benign/Likely benign 311033 rs188122235 13:110819495-110819495 13:110167148-110167148 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.3506-7C>G SNV Benign/Likely benign 311038 rs377592935 13:110825124-110825124 13:110172777-110172777 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.3288A>G (p.Pro1096=) SNV Benign/Likely benign 311041 rs2305082 13:110827007-110827007 13:110174660-110174660 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.*176A>G SNV Benign/Likely benign 311016 rs11545877 13:110802534-110802534 13:110150187-110150187 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.*1014C>T SNV Benign/Likely benign 311005 rs139916479 13:110801696-110801696 13:110149349-110149349 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.*975A>C SNV Benign/Likely benign 311006 rs28362515 13:110801735-110801735 13:110149388-110149388 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.3198+10G>A SNV Benign/Likely benign 311043 rs202002553 13:110827555-110827555 13:110175208-110175208 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2955G>C (p.Gln985His) SNV Benign/Likely benign 311047 rs145018661 13:110828986-110828986 13:110176639-110176639 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2624C>G (p.Pro875Arg) SNV Benign/Likely benign 311052 rs201964644 13:110830413-110830413 13:110178066-110178066 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.708C>G (p.Val236=) SNV Benign/Likely benign 311073 rs139523466 13:110859822-110859822 13:110207475-110207475 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.405C>T (p.Leu135=) SNV Benign/Likely benign 311078 rs138888319 13:110864252-110864252 13:110211905-110211905 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.4941G>A (p.Pro1647=) SNV Benign/Likely benign 311019 rs115834242 13:110802779-110802779 13:110150432-110150432 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.4658C>T (p.Ala1553Val) SNV Benign/Likely benign 311020 rs201150281 13:110807727-110807727 13:110155380-110155380 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.4640+8G>A SNV Benign/Likely benign 311021 rs117566874 13:110813531-110813531 13:110161184-110161184 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.4005C>T (p.Gly1335=) SNV Benign/Likely benign 311031 rs140722653 13:110818595-110818595 13:110166248-110166248 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.3972C>T (p.Leu1324=) SNV Benign/Likely benign 311032 rs535848796 13:110818628-110818628 13:110166281-110166281 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.*766G>A SNV Benign/Likely benign 311008 rs371130027 13:110801944-110801944 13:110149597-110149597 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.*609T>C SNV Benign/Likely benign 311010 rs189966143 13:110802101-110802101 13:110149754-110149754 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2869+6T>C SNV Benign/Likely benign 311048 rs557198622 13:110829226-110829226 13:110176879-110176879 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.3326-13dup duplication Benign/Likely benign 311040 rs139122216 13:110826879-110826880 13:110174532-110174533 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.4150+3G>A SNV Benign/Likely benign 311027 rs545498227 13:110817206-110817206 13:110164859-110164859 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.3877-8G>A SNV Benign/Likely benign 311034 rs370539477 13:110819585-110819585 13:110167238-110167238 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu) SNV Benign/Likely benign 311036 rs199557190 13:110823002-110823002 13:110170655-110170655 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.4056C>T (p.Tyr1352=) SNV Benign/Likely benign 197543 rs140210015 13:110817303-110817303 13:110164956-110164956 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.393G>A (p.Glu131=) SNV Benign/Likely benign 198472 rs34458255 13:110864264-110864264 13:110211917-110211917 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2103C>T (p.Asp701=) SNV Benign/Likely benign 311058 rs561116319 13:110833729-110833729 13:110181382-110181382 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.690C>T (p.Asp230=) SNV Benign/Likely benign 311074 rs149688210 13:110861199-110861199 13:110208852-110208852 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.501C>T (p.Pro167=) SNV Benign/Likely benign 311077 rs16975612 13:110862527-110862527 13:110210180-110210180 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.4797G>A (p.Ala1599=) SNV Benign/Likely benign 258259 rs146638269 13:110804812-110804812 13:110152465-110152465 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2517G>A (p.Pro839=) SNV Benign/Likely benign 764314 13:110830520-110830520 13:110178173-110178173 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.3774T>C (p.Leu1258=) SNV Benign/Likely benign 715098 13:110822078-110822078 13:110169731-110169731 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.1426C>T (p.Arg476Trp) SNV Benign/Likely benign 720587 13:110845216-110845216 13:110192869-110192869 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.1360A>G (p.Ile454Val) SNV Benign/Likely benign 712713 13:110847391-110847391 13:110195044-110195044 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.831A>G (p.Lys277=) SNV Benign/Likely benign 730908 13:110859039-110859039 13:110206692-110206692 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.633C>T (p.Pro211=) SNV Benign 707250 13:110861757-110861757 13:110209410-110209410 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg) SNV Benign 800231 13:110830200-110830200 13:110177853-110177853 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.4971G>A (p.Thr1657=) SNV Benign 881471 13:110802749-110802749 13:110150402-110150402 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.*838T>C SNV Benign 881850 13:110801872-110801872 13:110149525-110149525 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2641A>G (p.Met881Val) SNV Benign 884075 13:110830264-110830264 13:110177917-110177917 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.3082C>T (p.Pro1028Ser) SNV Benign 880718 13:110827681-110827681 13:110175334-110175334 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.1815T>C (p.Pro605=) SNV Benign 195950 rs61749897 13:110838814-110838814 13:110186467-110186467 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2333A>G (p.Gln778Arg) SNV Benign 882177 13:110831629-110831629 13:110179282-110179282 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.1437C>T (p.Pro479=) SNV Benign 882476 13:110845205-110845205 13:110192858-110192858 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.1419C>T (p.Asp473=) SNV Benign 884191 13:110845223-110845223 13:110192876-110192876 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.494A>G (p.His165Arg) SNV Benign 882588 13:110862534-110862534 13:110210187-110210187 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.19G>C (p.Val7Leu) SNV Benign 193216 rs9515185 13:110959356-110959356 13:110307009-110307009 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A2 NM_001845.6(COL4A1):c.19G>C (p.Val7Leu) SNV Benign 193216 rs9515185 13:110959356-110959356 13:110307009-110307009 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.4640+7C>T SNV Benign 258257 rs2275843 13:110813532-110813532 13:110161185-110161185 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.4470C>T (p.Ala1490=) SNV Benign 258255 rs1133219 13:110813709-110813709 13:110161362-110161362 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.3877-9C>T SNV Benign 258253 rs589985 13:110819586-110819586 13:110167239-110167239 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.3693G>A (p.Thr1231=) SNV Benign 258252 rs117738194 13:110822943-110822943 13:110170596-110170596 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.3189A>T (p.Arg1063=) SNV Benign 258251 rs874203 13:110827574-110827574 13:110175227-110175227 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.3183G>A (p.Gly1061=) SNV Benign 258250 rs874204 13:110827580-110827580 13:110175233-110175233 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2130G>A (p.Pro710=) SNV Benign 258249 rs16975492 13:110833702-110833702 13:110181355-110181355 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.1663= (p.Pro555=) SNV Benign 258247 rs536174 13:110839550-110839550 13:110187203-110187203 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.1257T>C (p.Pro419=) SNV Benign 258246 rs995224 13:110850842-110850842 13:110198495-110198495 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.859-10T>C SNV Benign 258265 rs677877 13:110857895-110857895 13:110205548-110205548 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.808-7C>G SNV Benign 258263 rs9588116 13:110859069-110859069 13:110206722-110206722 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.780+7G>A SNV Benign 258262 rs598893 13:110859743-110859743 13:110207396-110207396 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.616-11G>C SNV Benign 258261 rs645114 13:110861785-110861785 13:110209438-110209438 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.468+5ATTTT[2] short repeat Benign 258258 rs3832900 13:110863975-110863979 13:110211628-110211632 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.432T>A (p.Ala144=) SNV Benign 258254 rs532625 13:110864225-110864225 13:110211878-110211878 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.85-11T>C SNV Benign 258264 rs41275104 13:110895092-110895092 13:110242745-110242745 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.4800C>T (p.Ser1600=) SNV Benign 258260 rs650724 13:110804809-110804809 13:110152462-110152462 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=) SNV Benign 197519 rs150857429 13:110818604-110818604 13:110166257-110166257 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His) SNV Benign 197520 rs3742207 13:110818598-110818598 13:110166251-110166251 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.234+8C>T SNV Benign 196328 rs9521650 13:110866265-110866265 13:110213918-110213918 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001846.4(COL4A2):c.-232C>G SNV Benign 311090 rs7990009 13:110959688-110959688 13:110307341-110307341 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A2 NM_001846.4(COL4A2):c.-232C>G SNV Benign 311090 rs7990009 13:110959688-110959688 13:110307341-110307341 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001846.4(COL4A2):c.-215C>T SNV Benign 311091 rs7990017 13:110959705-110959705 13:110307358-110307358 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A2 NM_001846.4(COL4A2):c.-215C>T SNV Benign 311091 rs7990017 13:110959705-110959705 13:110307358-110307358 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.1084+5C>G SNV Benign 311064 rs74508743 13:110853780-110853780 13:110201433-110201433 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.958-9C>T SNV Benign 311068 rs73611465 13:110855963-110855963 13:110203616-110203616 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.808-7C>A SNV Benign 311070 rs9588116 13:110859069-110859069 13:110206722-110206722 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001846.4(COL4A2):c.-277A>C SNV Benign 311089 rs7989823 13:110959643-110959643 13:110307296-110307296 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A2 NM_001846.4(COL4A2):c.-277A>C SNV Benign 311089 rs7989823 13:110959643-110959643 13:110307296-110307296 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001846.4(COL4A2):c.-203T>C SNV Benign 311092 rs7991332 13:110959717-110959717 13:110307370-110307370 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A2 NM_001846.4(COL4A2):c.-203T>C SNV Benign 311092 rs7991332 13:110959717-110959717 13:110307370-110307370 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2124G>A (p.Gly708=) SNV Benign 311057 rs78426988 13:110833708-110833708 13:110181361-110181361 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.*587C>A SNV Benign 311011 rs13260 13:110802123-110802123 13:110149776-110149776 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001846.4(COL4A2):c.-133A>G SNV Benign 311093 rs35466678 13:110959787-110959787 13:110307440-110307440 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A2 NM_001846.4(COL4A2):c.-133A>G SNV Benign 311093 rs35466678 13:110959787-110959787 13:110307440-110307440 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.-90G>T SNV Benign 311087 rs113651836 13:110959464-110959464 13:110307117-110307117 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A2 NM_001845.6(COL4A1):c.-90G>T SNV Benign 311087 rs113651836 13:110959464-110959464 13:110307117-110307117 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies COL4A1 NM_001845.6(COL4A1):c.2075C>G (p.Pro692Arg) SNV not provided 585088 rs1566356383 13:110835360-110835360 13:110183013-110183013 BRN139 Brain Small Vessel Disease 1 with or Without Ocular Anomalies SLC25A32 NM_030780.5(SLC25A32):c.425G>A (p.Trp142Ter) SNV Pathogenic 223105 rs147014855 8:104415519-104415519 8:103403291-103403291 EXR006 Exercise Intolerance, Riboflavin-Responsive SLC25A32 NM_030780.5(SLC25A32):c.440G>A (p.Arg147His) SNV Pathogenic 223106 rs142329098 8:104415504-104415504 8:103403276-103403276 EXR006 Exercise Intolerance, Riboflavin-Responsive COA5 NM_001008215.3(COA5):c.157G>C (p.Ala53Pro) SNV Pathogenic 31087 rs387907099 2:99220597-99220597 2:98604134-98604134 CRD193 Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 3 SMARCAL1 NM_001127207.2(SMARCAL1):c.2542G>T (p.Glu848Ter) SNV Pathogenic 4171 rs119473033 2:217342939-217342939 2:216478216-216478216 FCL005 Focal Segmental Glomerulosclerosis APOL1 NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly) SNV Pathogenic 277678 rs73885319 22:36661906-36661906 22:36265860-36265860 FCL005 Focal Segmental Glomerulosclerosis APOL1 NM_003661.4(APOL1):c.1152T>G (p.Ile384Met) SNV Pathogenic 127198 rs60910145 22:36662034-36662034 22:36265988-36265988 FCL005 Focal Segmental Glomerulosclerosis SMARCAL1 NM_001127207.2(SMARCAL1):c.723C>A (p.Cys241Ter) SNV Pathogenic 374208 rs748106387 2:217280150-217280150 2:216415427-216415427 FCL005 Focal Segmental Glomerulosclerosis INF2 NM_022489.4(INF2):c.658G>A (p.Glu220Lys) SNV Pathogenic/Likely pathogenic 523533 rs530391015 14:105169782-105169782 14:104703445-104703445 FCL005 Focal Segmental Glomerulosclerosis TRPC6 NM_004621.6(TRPC6):c.2668G>A (p.Asp890Asn) SNV Likely pathogenic 812903 11:101323814-101323814 11:101453083-101453083 FCL005 Focal Segmental Glomerulosclerosis NUP93 NM_014669.5(NUP93):c.1909A>G (p.Lys637Glu) SNV Likely pathogenic 812904 16:56871529-56871529 16:56837617-56837617 FCL005 Focal Segmental Glomerulosclerosis APOL1 NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del) deletion risk factor 6081 rs71785313 22:36662042-36662047 22:36265996-36266001 FCL005 Focal Segmental Glomerulosclerosis INF2 NM_022489.4(INF2):c.1262_1267CACCCC[3] (p.Pro427_Pro428del) short repeat Conflicting interpretations of pathogenicity 312687 rs573567814 14:105173863-105173868 14:104707526-104707531 FCL005 Focal Segmental Glomerulosclerosis NPHS1 NM_004646.3(NPHS1):c.528T>C (p.Ser176=) SNV Conflicting interpretations of pathogenicity 222760 rs539716201 19:36341346-36341346 19:35850444-35850444 FCL005 Focal Segmental Glomerulosclerosis CD2AP NM_012120.3(CD2AP):c.*1466del deletion Uncertain significance 357218 rs886061541 6:47593427-47593427 6:47625691-47625691 FCL005 Focal Segmental Glomerulosclerosis TRPC6 NM_004621.6(TRPC6):c.739C>T (p.Arg247Trp) SNV Uncertain significance 301910 rs201859973 11:101374961-101374961 11:101504230-101504230 FCL005 Focal Segmental Glomerulosclerosis TRPC6 NM_004621.6(TRPC6):c.-319del deletion Uncertain significance 301922 rs886047541 11:101454553-101454553 11:101583822-101583822 FCL005 Focal Segmental Glomerulosclerosis NXF5 NM_032946.2(NXF5):c.337C>T (p.Arg113Trp) SNV Uncertain significance 88735 rs199849270 X:101096287-101096287 X:101841315-101841315 FCL005 Focal Segmental Glomerulosclerosis ALG13 NM_001099922.3(ALG13):c.383+2821_383+2822delinsTT indel Uncertain significance 88736 rs397518473 X:110931152-110931153 X:111687924-111687925 FCL005 Focal Segmental Glomerulosclerosis LAMB2 NM_002292.4(LAMB2):c.1682G>A (p.Arg561Gln) SNV Uncertain significance 222684 rs866448113 3:49166502-49166502 3:49129069-49129069 FCL005 Focal Segmental Glomerulosclerosis CD2AP NM_012120.3(CD2AP):c.*454_*455GT[18] short repeat Uncertain significance 357192 rs60486147 6:47592416-47592421 6:47624680-47624685 FCL005 Focal Segmental Glomerulosclerosis CD2AP NM_012120.3(CD2AP):c.*492_*497del deletion Uncertain significance 357194 rs886061529 6:47592454-47592459 6:47624718-47624723 FCL005 Focal Segmental Glomerulosclerosis CD2AP NM_012120.3(CD2AP):c.*496_*504delinsGTGTG indel Uncertain significance 357207 rs886061536 6:47592459-47592467 6:47624723-47624731 FCL005 Focal Segmental Glomerulosclerosis CD2AP NM_012120.3(CD2AP):c.*494_*499del deletion Uncertain significance 357196 rs886061530 6:47592456-47592461 6:47624720-47624725 FCL005 Focal Segmental Glomerulosclerosis CD2AP NM_012120.3(CD2AP):c.*496_*502delinsGTGTGTGTGTG indel Uncertain significance 357206 rs886061535 6:47592459-47592465 6:47624723-47624729 FCL005 Focal Segmental Glomerulosclerosis CD2AP NM_012120.3(CD2AP):c.*496delinsGTGTGTGTG indel Uncertain significance 357203 rs886061534 6:47592459-47592459 6:47624723-47624723 FCL005 Focal Segmental Glomerulosclerosis CD2AP NM_012120.3(CD2AP):c.*496delinsGTGTGTGTGTG indel Uncertain significance 357204 rs886061534 6:47592459-47592459 6:47624723-47624723 FCL005 Focal Segmental Glomerulosclerosis CD2AP NM_012120.3(CD2AP):c.*496delinsGTGTGTGTGTGTG indel Uncertain significance 357205 rs886061534 6:47592459-47592459 6:47624723-47624723 FCL005 Focal Segmental Glomerulosclerosis CD2AP NM_012120.3(CD2AP):c.-4dup duplication Uncertain significance 357163 rs886061517 6:47445972-47445973 6:47478236-47478237 FCL005 Focal Segmental Glomerulosclerosis CD2AP NM_012120.3(CD2AP):c.1569_1571AGA[2] (p.Glu525del) short repeat Uncertain significance 357176 rs545551160 6:47575700-47575702 6:47607964-47607966 FCL005 Focal Segmental Glomerulosclerosis CD2AP NM_012120.3(CD2AP):c.*454_*455GT[24] short repeat Uncertain significance 357188 rs60486147 6:47592415-47592416 6:47624679-47624680 FCL005 Focal Segmental Glomerulosclerosis CD2AP NM_012120.3(CD2AP):c.*454_*455GT[19] short repeat Uncertain significance 357191 rs60486147 6:47592416-47592419 6:47624680-47624683 FCL005 Focal Segmental Glomerulosclerosis CD2AP NM_012120.3(CD2AP):c.*454_*455GT[22] short repeat Uncertain significance 357186 rs60486147 6:47592415-47592416 6:47624679-47624680 FCL005 Focal Segmental Glomerulosclerosis CD2AP NM_012120.3(CD2AP):c.*495_*496insGTGTAT insertion Uncertain significance 357200 rs886061525 6:47592457-47592458 6:47624721-47624722 FCL005 Focal Segmental Glomerulosclerosis CD2AP NM_012120.3(CD2AP):c.*496_*497AT[5] short repeat Uncertain significance 357202 rs71538327 6:47592458-47592463 6:47624722-47624727 FCL005 Focal Segmental Glomerulosclerosis CD2AP NM_012120.3(CD2AP):c.*496_*497AT[7] short repeat Uncertain significance 357201 rs71538327 6:47592458-47592459 6:47624722-47624723 FCL005 Focal Segmental Glomerulosclerosis CD2AP NM_012120.3(CD2AP):c.*451_*452insGT insertion Uncertain significance 357184 rs886061523 6:47592413-47592414 6:47624677-47624678 FCL005 Focal Segmental Glomerulosclerosis CD2AP NM_012120.3(CD2AP):c.*452_*455del deletion Uncertain significance 357185 rs886061524 6:47592414-47592417 6:47624678-47624681 FCL005 Focal Segmental Glomerulosclerosis CD2AP NM_012120.3(CD2AP):c.*490G>A SNV Uncertain significance 357193 rs886061528 6:47592453-47592453 6:47624717-47624717 FCL005 Focal Segmental Glomerulosclerosis CD2AP NM_012120.3(CD2AP):c.*454_*455GT[23] short repeat Uncertain significance 357187 rs60486147 6:47592415-47592416 6:47624679-47624680 FCL005 Focal Segmental Glomerulosclerosis CD2AP NM_012120.3(CD2AP):c.*454_*455GT[20] short repeat Uncertain significance 357190 rs60486147 6:47592416-47592417 6:47624680-47624681 FCL005 Focal Segmental Glomerulosclerosis CD2AP NM_012120.3(CD2AP):c.*494_*503del deletion Uncertain significance 357197 rs777904165 6:47592456-47592465 6:47624720-47624729 FCL005 Focal Segmental Glomerulosclerosis CD2AP NM_012120.3(CD2AP):c.*495_*496insGTAT insertion Uncertain significance 357199 rs886061525 6:47592457-47592458 6:47624721-47624722 FCL005 Focal Segmental Glomerulosclerosis CD2AP NM_012120.3(CD2AP):c.*2116_*2118del deletion Uncertain significance 357223 rs886061545 6:47594078-47594080 6:47626342-47626344 FCL005 Focal Segmental Glomerulosclerosis CD2AP NM_012120.3(CD2AP):c.*1430dup duplication Likely benign 357217 rs145649247 6:47593385-47593386 6:47625649-47625650 FCL005 Focal Segmental Glomerulosclerosis CD2AP NM_012120.3(CD2AP):c.-167_-165del deletion Likely benign 357159 rs533900030 6:47445812-47445814 6:47478076-47478078 FCL005 Focal Segmental Glomerulosclerosis TRPC6 NM_004621.6(TRPC6):c.*509_*512dup duplication Likely benign 301889 rs557577176 11:101323173-101323174 11:101452442-101452443 FCL005 Focal Segmental Glomerulosclerosis TRPC6 NM_004621.6(TRPC6):c.*33del deletion Likely benign 301895 rs753955901 11:101323653-101323653 11:101452922-101452922 FCL005 Focal Segmental Glomerulosclerosis CD2AP NM_012120.3(CD2AP):c.-55_-54insAGG insertion Likely benign 357161 rs560930115 6:47445926-47445927 6:47478190-47478191 FCL005 Focal Segmental Glomerulosclerosis CD2AP NM_012120.2(CD2AP):c.*3047G>A SNV Likely benign 369565 rs116607853 6:47595010-47595010 6:47627274-47627274 FCL005 Focal Segmental Glomerulosclerosis INF2 NM_022489.4(INF2):c.2310+8del deletion Benign 261606 rs3840006 14:105177352-105177352 14:104711015-104711015 FCL005 Focal Segmental Glomerulosclerosis CD2AP NM_012120.3(CD2AP):c.*367del deletion Benign 357183 rs797004904 6:47592329-47592329 6:47624593-47624593 FCL005 Focal Segmental Glomerulosclerosis TRPC6 NM_004621.6(TRPC6):c.*710_*711insTTTA insertion Benign 301884 rs145266305 11:101322975-101322976 11:101452244-101452245 FCL005 Focal Segmental Glomerulosclerosis CD2AP NM_012120.3(CD2AP):c.*2228dup duplication Benign 357225 rs138722443 6:47594183-47594184 6:47626447-47626448 FCL005 Focal Segmental Glomerulosclerosis KCTD7 NC_000007.14:g.(?_66638233)_(66639252_?)del deletion Pathogenic 583587 7:66103220-66104239 7:66638233-66639252 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NC_000007.14:g.(?_66629045)_(66640414_?)del deletion Pathogenic 831752 7:66094032-66105401 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.331del (p.Leu111fs) deletion Pathogenic 860762 7:66103255-66103255 7:66638268-66638268 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.295C>T (p.Arg99Ter) SNV Pathogenic 843 rs267607199 7:66098412-66098412 7:66633425-66633425 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.594del (p.Ile199fs) deletion Pathogenic 37009 rs727502785 7:66103941-66103941 7:66638954-66638954 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.818A>T (p.Asn273Ile) SNV Pathogenic 37011 rs387907261 7:66104167-66104167 7:66639180-66639180 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.343G>T (p.Asp115Tyr) SNV Pathogenic 37012 rs387907262 7:66103268-66103268 7:66638281-66638281 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.322C>A (p.Leu108Met) SNV Pathogenic 37013 rs387907263 7:66103247-66103247 7:66638260-66638260 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.335G>A (p.Arg112His) SNV Pathogenic/Likely pathogenic 206015 rs774026720 7:66103260-66103260 7:66638273-66638273 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.280C>T (p.Arg94Trp) SNV Likely pathogenic 37010 rs387907260 7:66098397-66098397 7:66633410-66633410 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.550C>T (p.Arg184Cys) SNV Likely pathogenic 36926 rs387907246 7:66103899-66103899 7:66638912-66638912 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.551G>A (p.Arg184His) SNV Likely pathogenic 800962 7:66103900-66103900 7:66638913-66638913 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NC_000007.13:g.(?_66098242)_(66098451_?)dup duplication Likely pathogenic 584347 7:66098242-66098451 7:66633255-66633464 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.145-2A>G SNV Likely pathogenic 520584 rs1554397774 7:66098260-66098260 7:66633273-66633273 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.314+1G>A SNV Likely pathogenic 536951 rs1554397834 7:66098432-66098432 7:66633445-66633445 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.533C>T (p.Ala178Val) SNV Conflicting interpretations of pathogenicity 559579 rs368001837 7:66103882-66103882 7:66638895-66638895 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.621C>A (p.Leu207=) SNV Conflicting interpretations of pathogenicity 502314 rs376944331 7:66103970-66103970 7:66638983-66638983 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.256T>C (p.Tyr86His) SNV Conflicting interpretations of pathogenicity 206012 rs149255570 7:66098373-66098373 7:66633386-66633386 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.273C>T (p.Ser91=) SNV Conflicting interpretations of pathogenicity 206008 rs139585796 7:66098390-66098390 7:66633403-66633403 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.687T>C (p.Asp229=) SNV Conflicting interpretations of pathogenicity 138054 rs372150992 7:66104036-66104036 7:66639049-66639049 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.133C>T (p.Leu45=) SNV Conflicting interpretations of pathogenicity 129369 rs587780370 7:66094184-66094184 7:66629197-66629197 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.384G>A (p.Glu128=) SNV Conflicting interpretations of pathogenicity 138057 rs145238250 7:66103309-66103309 7:66638322-66638322 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.190A>G (p.Thr64Ala) SNV Conflicting interpretations of pathogenicity 195417 rs201296399 7:66098307-66098307 7:66633320-66633320 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions CLN3 NM_000086.2(CLN3):c.242C>T (p.Pro81Leu) SNV Conflicting interpretations of pathogenicity 205105 rs137906617 16:28499964-28499964 16:28488643-28488643 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.456G>A (p.Val152=) SNV Conflicting interpretations of pathogenicity 206004 rs796052686 7:66103381-66103381 7:66638394-66638394 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.369A>C (p.Arg123=) SNV Conflicting interpretations of pathogenicity 360586 rs753658170 7:66103294-66103294 7:66638307-66638307 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.291C>T (p.Ile97=) SNV Conflicting interpretations of pathogenicity 384144 rs769023482 7:66098408-66098408 7:66633421-66633421 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*1810C>T SNV Uncertain significance 360610 rs886062421 7:66106029-66106029 7:66641042-66641042 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*3508G>T SNV Uncertain significance 360626 rs573049844 7:66107727-66107727 7:66642740-66642740 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*3825T>A SNV Uncertain significance 360628 rs768325782 7:66108044-66108044 7:66643057-66643057 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*3836T>G SNV Uncertain significance 360629 rs370135424 7:66108055-66108055 7:66643068-66643068 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.749C>T (p.Thr250Met) SNV Uncertain significance 360588 rs760837610 7:66104098-66104098 7:66639111-66639111 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*55C>T SNV Uncertain significance 360589 rs886062414 7:66104274-66104274 7:66639287-66639287 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*668T>G SNV Uncertain significance 360593 rs765653009 7:66104887-66104887 7:66639900-66639900 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*354C>G SNV Uncertain significance 360592 rs540871291 7:66104573-66104573 7:66639586-66639586 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*837A>G SNV Uncertain significance 360596 rs886062415 7:66105056-66105056 7:66640069-66640069 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.-170G>T SNV Uncertain significance 360577 rs191169882 7:66093882-66093882 7:66628895-66628895 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.18G>C (p.Gly6=) SNV Uncertain significance 360585 rs886062413 7:66094069-66094069 7:66629082-66629082 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*1123A>G SNV Uncertain significance 360602 rs886062418 7:66105342-66105342 7:66640355-66640355 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*1960T>C SNV Uncertain significance 360613 rs752605506 7:66106179-66106179 7:66641192-66641192 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*2175C>A SNV Uncertain significance 360616 rs369221941 7:66106394-66106394 7:66641407-66641407 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*2746G>C SNV Uncertain significance 360621 rs886062424 7:66106965-66106965 7:66641978-66641978 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*2806G>A SNV Uncertain significance 360623 rs886062425 7:66107025-66107025 7:66642038-66642038 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.-181T>G SNV Uncertain significance 360576 rs886062407 7:66093871-66093871 7:66628884-66628884 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.-94C>T SNV Uncertain significance 360580 rs886062410 7:66093958-66093958 7:66628971-66628971 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*892C>T SNV Uncertain significance 360599 rs886062417 7:66105111-66105111 7:66640124-66640124 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*1581C>G SNV Uncertain significance 360604 rs570131389 7:66105800-66105800 7:66640813-66640813 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*1587C>T SNV Uncertain significance 360605 rs190087991 7:66105806-66105806 7:66640819-66640819 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*2322G>A SNV Uncertain significance 360618 rs886062423 7:66106541-66106541 7:66641554-66641554 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*2692A>G SNV Uncertain significance 360620 rs573138370 7:66106911-66106911 7:66641924-66641924 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*2868C>T SNV Uncertain significance 360624 rs886062426 7:66107087-66107087 7:66642100-66642100 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*1293A>G SNV Uncertain significance 360603 rs886062419 7:66105512-66105512 7:66640525-66640525 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*1624T>C SNV Uncertain significance 360607 rs765576236 7:66105843-66105843 7:66640856-66640856 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.-155G>C SNV Uncertain significance 360578 rs886062408 7:66093897-66093897 7:66628910-66628910 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.-69C>T SNV Uncertain significance 360582 rs536230559 7:66093983-66093983 7:66628996-66628996 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*1740G>A SNV Uncertain significance 360609 rs886062420 7:66105959-66105959 7:66640972-66640972 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*1911C>G SNV Uncertain significance 360611 rs565110569 7:66106130-66106130 7:66641143-66641143 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*2009A>G SNV Uncertain significance 360614 rs184129807 7:66106228-66106228 7:66641241-66641241 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.-145C>G SNV Uncertain significance 360579 rs886062409 7:66093907-66093907 7:66628920-66628920 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.-87A>C SNV Uncertain significance 360581 rs886062411 7:66093965-66093965 7:66628978-66628978 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.-46C>G SNV Uncertain significance 360583 rs886062412 7:66094006-66094006 7:66629019-66629019 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.403G>A (p.Gly135Arg) SNV Uncertain significance 360587 rs781725855 7:66103328-66103328 7:66638341-66638341 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.68C>T (p.Ala23Val) SNV Uncertain significance 206013 rs745360140 7:66094119-66094119 7:66629132-66629132 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.76G>T (p.Asp26Tyr) SNV Uncertain significance 206019 rs371919994 7:66094127-66094127 7:66629140-66629140 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.193C>T (p.Arg65Cys) SNV Uncertain significance 206011 rs200321023 7:66098310-66098310 7:66633323-66633323 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.362G>T (p.Arg121Leu) SNV Uncertain significance 206020 rs199624315 7:66103287-66103287 7:66638300-66638300 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.444G>T (p.Lys148Asn) SNV Uncertain significance 206009 rs746540809 7:66103369-66103369 7:66638382-66638382 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.209G>A (p.Arg70Gln) SNV Uncertain significance 847364 7:66098326-66098326 7:66633339-66633339 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.217G>A (p.Glu73Lys) SNV Uncertain significance 855614 7:66098334-66098334 7:66633347-66633347 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.239T>C (p.Met80Thr) SNV Uncertain significance 841460 7:66098356-66098356 7:66633369-66633369 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.251G>A (p.Arg84Gln) SNV Uncertain significance 848103 7:66098368-66098368 7:66633381-66633381 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.523C>T (p.Arg175Trp) SNV Uncertain significance 835977 7:66103872-66103872 7:66638885-66638885 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.640C>T (p.Arg214Trp) SNV Uncertain significance 859026 7:66103989-66103989 7:66639002-66639002 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.-90G>A SNV Uncertain significance 909791 7:66093962-66093962 7:66628975-66628975 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.-55C>T SNV Uncertain significance 910694 7:66093997-66093997 7:66629010-66629010 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.181C>T (p.His61Tyr) SNV Uncertain significance 911917 7:66098298-66098298 7:66633311-66633311 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.524G>A (p.Arg175Gln) SNV Uncertain significance 908986 7:66103873-66103873 7:66638886-66638886 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.866+369C>T SNV Uncertain significance 909855 7:66104584-66104584 7:66639597-66639597 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.866+520T>C SNV Uncertain significance 909856 7:66104735-66104735 7:66639748-66639748 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.866+561A>T SNV Uncertain significance 909857 7:66104776-66104776 7:66639789-66639789 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.867-472G>A SNV Uncertain significance 910751 7:66104909-66104909 7:66639922-66639922 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.867-424C>G SNV Uncertain significance 910752 7:66104957-66104957 7:66639970-66639970 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.*172T>C SNV Uncertain significance 911975 7:66105553-66105553 7:66640566-66640566 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.*242G>A SNV Uncertain significance 911976 7:66105623-66105623 7:66640636-66640636 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.*816A>T SNV Uncertain significance 909909 7:66106197-66106197 7:66641210-66641210 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.*2538G>A SNV Uncertain significance 909115 7:66107919-66107919 7:66642932-66642932 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.*2568C>T SNV Uncertain significance 909116 7:66107949-66107949 7:66642962-66642962 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.*2664G>C SNV Uncertain significance 909964 7:66108045-66108045 7:66643058-66643058 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.*1001C>T SNV Uncertain significance 909911 7:66106382-66106382 7:66641395-66641395 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.*1028C>T SNV Uncertain significance 910811 7:66106409-66106409 7:66641422-66641422 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.*1165T>C SNV Uncertain significance 910812 7:66106546-66106546 7:66641559-66641559 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.*1368G>A SNV Uncertain significance 910813 7:66106749-66106749 7:66641762-66641762 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.*1660G>A SNV Uncertain significance 912030 7:66107041-66107041 7:66642054-66642054 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.*1675G>A SNV Uncertain significance 912031 7:66107056-66107056 7:66642069-66642069 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.*1811G>A SNV Uncertain significance 912032 7:66107192-66107192 7:66642205-66642205 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.*1826A>G SNV Uncertain significance 912033 7:66107207-66107207 7:66642220-66642220 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.*2076G>A SNV Uncertain significance 909112 7:66107457-66107457 7:66642470-66642470 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.*2242T>C SNV Uncertain significance 909113 7:66107623-66107623 7:66642636-66642636 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.458G>A (p.Arg153His) SNV Uncertain significance 561040 rs765235486 7:66103383-66103383 7:66638396-66638396 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.769C>G (p.Leu257Val) SNV Uncertain significance 469108 rs1554300955 7:66104118-66104118 7:66639131-66639131 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.361C>T (p.Arg121Cys) SNV Uncertain significance 469103 rs199604642 7:66103286-66103286 7:66638299-66638299 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.422_424dup (p.Glu142_Asn143insVal) duplication Uncertain significance 569269 rs747385800 7:66103346-66103347 7:66638359-66638360 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.796G>T (p.Val266Leu) SNV Uncertain significance 567133 rs1297799073 7:66104145-66104145 7:66639158-66639158 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.104_115del (p.Ala35_Ala38del) deletion Uncertain significance 566683 rs778647590 7:66094152-66094163 7:66629165-66629176 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.398C>T (p.Ala133Val) SNV Uncertain significance 577313 rs372103637 7:66103323-66103323 7:66638336-66638336 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.145T>C (p.Phe49Leu) SNV Uncertain significance 589052 rs559020294 7:66098262-66098262 7:66633275-66633275 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.22G>A (p.Glu8Lys) SNV Uncertain significance 664309 7:66094073-66094073 7:66629086-66629086 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.400A>G (p.Ile134Val) SNV Uncertain significance 658212 7:66103325-66103325 7:66638338-66638338 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.440T>C (p.Leu147Pro) SNV Uncertain significance 641399 7:66103365-66103365 7:66638378-66638378 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.636T>A (p.Phe212Leu) SNV Uncertain significance 665793 7:66103985-66103985 7:66638998-66638998 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.710C>G (p.Ala237Gly) SNV Uncertain significance 662720 7:66104059-66104059 7:66639072-66639072 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NC_000007.13:g.(?_66094032)_(66105401_?)dup duplication Uncertain significance 640465 7:66094032-66105401 7:66629045-66640414 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.144+4C>A SNV Uncertain significance 656995 7:66094199-66094199 7:66629212-66629212 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.677G>C (p.Cys226Ser) SNV Uncertain significance 548507 rs1554300943 7:66104026-66104026 7:66639039-66639039 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.302G>A (p.Gly101Asp) SNV Uncertain significance 548928 rs1554397831 7:66098419-66098419 7:66633432-66633432 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.506G>A (p.Arg169Gln) SNV Uncertain significance 423509 rs745917176 7:66103855-66103855 7:66638868-66638868 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.790A>C (p.Ile264Leu) SNV Uncertain significance 469109 rs763830869 7:66104139-66104139 7:66639152-66639152 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.14C>G (p.Thr5Arg) SNV Uncertain significance 469099 rs1346070646 7:66094065-66094065 7:66629078-66629078 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.172G>A (p.Gly58Arg) SNV Uncertain significance 469100 rs750033880 7:66098289-66098289 7:66633302-66633302 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.238A>G (p.Met80Val) SNV Uncertain significance 469101 rs1554397798 7:66098355-66098355 7:66633368-66633368 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.362G>A (p.Arg121His) SNV Uncertain significance 469104 rs199624315 7:66103287-66103287 7:66638300-66638300 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.250C>T (p.Arg84Trp) SNV Uncertain significance 469102 rs754476100 7:66098367-66098367 7:66633380-66633380 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4:c.315-?_*3997+?dup duplication Likely benign 469098 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NC_000007.13:g.(?_66103220)_(66105401_?)dup duplication Likely benign 469097 7:66103220-66105401 7:66638233-66640414 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.534G>A (p.Ala178=) SNV Likely benign 469106 rs773060529 7:66103883-66103883 7:66638896-66638896 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.405G>C (p.Gly135=) SNV Likely benign 558955 rs555039386 7:66103330-66103330 7:66638343-66638343 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.417G>A (p.Glu139=) SNV Likely benign 536954 rs1554300872 7:66103342-66103342 7:66638355-66638355 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.465G>A (p.Ala155=) SNV Likely benign 536955 rs773209661 7:66103390-66103390 7:66638403-66638403 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.594C>G (p.Pro198=) SNV Likely benign 536953 rs749192199 7:66103943-66103943 7:66638956-66638956 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.411C>T (p.Leu137=) SNV Likely benign 469105 rs374072904 7:66103336-66103336 7:66638349-66638349 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.*2450G>A SNV Likely benign 909114 7:66107831-66107831 7:66642844-66642844 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.*975T>C SNV Likely benign 909910 7:66106356-66106356 7:66641369-66641369 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_001167961.2(KCTD7):c.*677T>C SNV Likely benign 909049 7:66106058-66106058 7:66641071-66641071 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.168C>T (p.Asn56=) SNV Likely benign 697359 7:66098285-66098285 7:66633298-66633298 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.204A>C (p.Thr68=) SNV Likely benign 762713 7:66098321-66098321 7:66633334-66633334 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.786G>A (p.Gln262=) SNV Likely benign 764627 7:66104135-66104135 7:66639148-66639148 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*221G>T SNV Likely benign 360591 rs151151235 7:66104440-66104440 7:66639453-66639453 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*1619A>G SNV Likely benign 360606 rs115778754 7:66105838-66105838 7:66640851-66640851 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*3991G>C SNV Likely benign 360632 rs147205609 7:66108210-66108210 7:66643223-66643223 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.507G>C (p.Arg169=) SNV Benign/Likely benign 206006 rs142379946 7:66103856-66103856 7:66638869-66638869 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.-49C>T SNV Benign/Likely benign 138056 rs374505432 7:66094003-66094003 7:66629016-66629016 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.192A>G (p.Thr64=) SNV Benign/Likely benign 206007 rs142526573 7:66098309-66098309 7:66633322-66633322 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.-116C>T SNV Benign/Likely benign 676036 7:66093936-66093936 7:66628949-66628949 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.267G>A (p.Thr89=) SNV Benign 129370 rs3764904 7:66098384-66098384 7:66633397-66633397 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.654C>T (p.Asp218=) SNV Benign 129371 rs117194263 7:66104003-66104003 7:66639016-66639016 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*9G>T SNV Benign 138055 rs116630203 7:66104228-66104228 7:66639241-66639241 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*1727G>C SNV Benign 360608 rs17229513 7:66105946-66105946 7:66640959-66640959 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*979C>A SNV Benign 360601 rs9791713 7:66105198-66105198 7:66640211-66640211 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*2656A>G SNV Benign 360619 rs1860469 7:66106875-66106875 7:66641888-66641888 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*2805C>T SNV Benign 360622 rs1267818 7:66107024-66107024 7:66642037-66642037 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*3033T>C SNV Benign 360625 rs1860468 7:66107252-66107252 7:66642265-66642265 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*3961C>T SNV Benign 360631 rs144713969 7:66108180-66108180 7:66643193-66643193 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*1926G>A SNV Benign 360612 rs117267079 7:66106145-66106145 7:66641158-66641158 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*944C>G SNV Benign 360600 rs9791712 7:66105163-66105163 7:66640176-66640176 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*880T>C SNV Benign 360598 rs117143942 7:66105099-66105099 7:66640112-66640112 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*3752C>G SNV Benign 360627 rs73133851 7:66107971-66107971 7:66642984-66642984 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.-44C>T SNV Benign 360584 rs35526611 7:66094008-66094008 7:66629021-66629021 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*216A>G SNV Benign 360590 rs77341088 7:66104435-66104435 7:66639448-66639448 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*2080A>G SNV Benign 360615 rs73702140 7:66106299-66106299 7:66641312-66641312 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*690G>C SNV Benign 360594 rs4718382 7:66104909-66104909 7:66639922-66639922 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions KCTD7 NM_153033.4(KCTD7):c.*708C>T SNV Benign 360595 rs79736939 7:66104927-66104927 7:66639940-66639940 EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions ESR1 NM_000125.4(ESR1):c.453-397T>C SNV drug response,risk factor 16594 6:152163335-152163335 6:151842200-151842200 MYC007 Myocardial Infarction GUCY1A1 NM_001130682.3(GUCY1A1):c.488dup (p.Leu163fs) duplication Pathogenic 65427 rs587777928 4:156631799-156631800 4:155710647-155710648 MYC007 Myocardial Infarction CCT7 NM_006429.4(CCT7):c.1574C>T (p.Ser525Leu) SNV Pathogenic 65429 rs587777929 2:73479931-73479931 2:73252803-73252803 MYC007 Myocardial Infarction APOE NM_000041.3(APOE):c.-83-203T= SNV risk factor 17877 rs405509 19:45408836-45408836 19:44905579-44905579 MYC007 Myocardial Infarction ACE NM_000789.3(ACE):c.2306-117_2306-116insAF118569.1:g.14094_14382 insertion risk factor 18061 17:61565892-61565893 17:63488531-63488532 MYC007 Myocardial Infarction LTA NM_000595.4(LTA):c.179C>A (p.Thr60Asn) SNV risk factor 14379 rs1041981 6:31540784-31540784 6:31573007-31573007 MYC007 Myocardial Infarction LTA NM_000595.4(LTA):c.-10+90A>G SNV risk factor 14380 rs909253 6:31540313-31540313 6:31572536-31572536 MYC007 Myocardial Infarction LGALS2 NM_006498.3(LGALS2):c.6+3279C>T SNV risk factor 14472 22:37972628-37972628 22:37576621-37576621 MYC007 Myocardial Infarction MIAT MIAT, HAPLOTYPE, TAAAAT SNV risk factor 1022 MYC007 Myocardial Infarction GCLC GCLC, -129C-T SNV risk factor 3959 MYC007 Myocardial Infarction PSMA6 NM_002791.3(PSMA6):c.-8C>G SNV risk factor 6796 rs1048990 14:35761675-35761675 14:35292469-35292469 MYC007 Myocardial Infarction OLR1 NM_002543.4(OLR1):c.501G>C (p.Lys167Asn) SNV risk factor 6994 rs11053646 12:10313448-10313448 12:10160849-10160849 MYC007 Myocardial Infarction OLR1 NM_002543.4(OLR1):c.*188= SNV risk factor 6995 rs12316150 12:10312291-10312291 12:10159692-10159692 MYC007 Myocardial Infarction LRP8 NM_004631.5(LRP8):c.2855G>A (p.Arg952Gln) SNV risk factor 6996 rs5174 1:53712727-53712727 1:53247055-53247055 MYC007 Myocardial Infarction GCLM GCLM, -588C-T SNV risk factor 8366 MYC007 Myocardial Infarction F7 F7, 10-BP INS, NT-323 insertion risk factor 12079 MYC007 Myocardial Infarction F13A1 NM_000129.3(F13A1):c.103G>T (p.Val35Leu) SNV Conflicting interpretations of pathogenicity 16532 rs5985 6:6318795-6318795 6:6318562-6318562 MYC007 Myocardial Infarction ABCC9 NM_020297.3(ABCC9):c.2200G>A (p.Val734Ile) SNV Conflicting interpretations of pathogenicity 35627 rs61688134 12:22017410-22017410 12:21864476-21864476 MYC007 Myocardial Infarction CLCN1 NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) indel Conflicting interpretations of pathogenicity 209139 rs797045032 7:143018813-143018814 7:143321720-143321721 MYC007 Myocardial Infarction F10 NM_019616.4(F7):c.1172G>A (p.Arg391Gln) SNV Benign 12080 rs6046 13:113773159-113773159 13:113118845-113118845 MYC007 Myocardial Infarction F7 NM_019616.4(F7):c.1172G>A (p.Arg391Gln) SNV Benign 12080 rs6046 13:113773159-113773159 13:113118845-113118845 MYC007 Myocardial Infarction ITGB3 NM_000212.2(ITGB3):c.176T>C (p.Leu59Pro) SNV Benign 13558 rs5918 17:45360730-45360730 17:47283364-47283364 MYC007 Myocardial Infarction LOXL1 NM_005576.4(LOXL1):c.422G>T (p.Arg141Leu) SNV risk factor 14360 rs1048661 15:74219546-74219546 15:73927205-73927205 EXF001 Exfoliation Syndrome LOXL1 NM_005576.4(LOXL1):c.458G>A (p.Gly153Asp) SNV risk factor 14361 rs3825942 15:74219582-74219582 15:73927241-73927241 EXF001 Exfoliation Syndrome LOXL1 NM_005576.4(LOXL1):c.1102+1976T>C SNV risk factor 14362 rs2165241 15:74222202-74222202 15:73929861-73929861 EXF001 Exfoliation Syndrome LTBP2 NM_000428.3(LTBP2):c.1999A>C (p.Ile667Leu) SNV Likely pathogenic 126953 rs137854859 14:74995814-74995814 14:74529111-74529111 EXF001 Exfoliation Syndrome LTBP2 NM_000428.3(LTBP2):c.4699A>G (p.Met1567Val) SNV Likely pathogenic 132837 rs137854864 14:74970193-74970193 14:74503490-74503490 EXF001 Exfoliation Syndrome LTBP2 NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) SNV Conflicting interpretations of pathogenicity 126949 rs137854861 14:75018994-75018994 14:74552291-74552291 EXF001 Exfoliation Syndrome LTBP2 NM_000428.3(LTBP2):c.3527-14T>C SNV Uncertain significance 132836 rs137854886 14:74975446-74975446 14:74508743-74508743 EXF001 Exfoliation Syndrome BSCL2 NM_032667.6(BSCL2):c.317_321del (p.Tyr106fs) deletion Pathogenic 4535 rs587777608 11:62462157-62462161 11:62694685-62694689 ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy BSCL2 NM_032667.6(BSCL2):c.793C>T (p.Arg265Ter) SNV Pathogenic 143858 rs587777606 11:62458772-62458772 11:62691300-62691300 ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy BSCL2 NM_032667.6(BSCL2):c.346G>T (p.Glu116Ter) SNV Pathogenic 143859 rs587777607 11:62462132-62462132 11:62694660-62694660 ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy BSCL2 NM_032667.6(BSCL2):c.1106C>T (p.Ala369Val) SNV Uncertain significance 566241 rs141657385 11:62457930-62457930 11:62690458-62690458 ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy OPTN NC_000010.11:g.(?_13109103)_(13136886_?)del deletion Pathogenic 529764 10:13151103-13178886 10:13109103-13136886 GLC092 Glaucoma, Primary Open Angle OPTN NC_000010.10:g.(?_12833157)_(13178866_?)del deletion Pathogenic 584050 10:12833157-13178866 GLC092 Glaucoma, Primary Open Angle OPTN NC_000010.11:g.(?_13109123)_(13183100_?)del deletion Pathogenic 583651 10:13151123-13225100 10:13109123-13183100 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.158_161dup (p.Lys55fs) duplication Pathogenic 576203 rs1564354968 10:13151279-13151280 10:13109279-13109280 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs) insertion Pathogenic 647662 10:13154464-13154465 10:13112464-13112465 GLC092 Glaucoma, Primary Open Angle OPTN NC_000010.11:g.(?_13109113)_(13112645_?)del deletion Pathogenic 832940 10:13151113-13154645 GLC092 Glaucoma, Primary Open Angle OPTN NC_000010.11:g.(?_13116257)_(13116350_?)del deletion Pathogenic 831344 10:13158257-13158350 GLC092 Glaucoma, Primary Open Angle OPTN OPTN, 2-BP INS, 691AG insertion Pathogenic 7097 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.148G>A (p.Glu50Lys) SNV Pathogenic 7096 rs28939688 10:13151270-13151270 10:13109270-13109270 GLC092 Glaucoma, Primary Open Angle MYOC NM_000261.2(MYOC):c.1111T>C (p.Tyr371His) SNV Pathogenic 242274 rs878854408 1:171605469-171605469 1:171636329-171636329 GLC092 Glaucoma, Primary Open Angle MYOC NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) SNV Likely pathogenic 7949 rs74315329 1:171605478-171605478 1:171636338-171636338 GLC092 Glaucoma, Primary Open Angle LTBP2 NM_000428.3(LTBP2):c.1484G>A (p.Arg495Gln) SNV Likely pathogenic 126950 rs137854858 14:75017969-75017969 14:74551266-74551266 GLC092 Glaucoma, Primary Open Angle LTBP2 NM_000428.3(LTBP2):c.4250A>G (p.Gln1417Arg) SNV Likely pathogenic 126955 rs137854863 14:74971805-74971805 14:74505102-74505102 GLC092 Glaucoma, Primary Open Angle LTBP2 NM_000428.3(LTBP2):c.4912G>A (p.Val1638Met) SNV Likely pathogenic 126958 rs137854860 14:74969614-74969614 14:74502911-74502911 GLC092 Glaucoma, Primary Open Angle CARD10 NM_014550.4(CARD10):c.2485C>T (p.Arg829Trp) SNV risk factor 224916 rs201794655 22:37888801-37888801 22:37492794-37492794 GLC092 Glaucoma, Primary Open Angle CARD10 NM_014550.4(CARD10):c.1210C>T (p.Arg404Trp) SNV risk factor 224915 rs750643216 22:37902372-37902372 22:37506365-37506365 GLC092 Glaucoma, Primary Open Angle CARD10 NM_014550.4(CARD10):c.1024G>A (p.Val342Met) SNV risk factor 224914 rs200148764 22:37904575-37904575 22:37508568-37508568 GLC092 Glaucoma, Primary Open Angle CARD10 NM_014550.4(CARD10):c.983C>T (p.Ala328Val) SNV risk factor 224913 rs139006752 22:37904616-37904616 22:37508609-37508609 GLC092 Glaucoma, Primary Open Angle CARD10 NM_014550.4(CARD10):c.635G>A (p.Arg212His) SNV risk factor 224912 rs1057519378 22:37912044-37912044 22:37516037-37516037 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter) SNV Conflicting interpretations of pathogenicity 631627 rs140599944 10:13154486-13154486 10:13112486-13112486 GLC092 Glaucoma, Primary Open Angle CYP1B1 NM_000104.3(CYP1B1):c.241T>A (p.Tyr81Asn) SNV Conflicting interpretations of pathogenicity 7744 rs9282671 2:38302291-38302291 2:38075148-38075148 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.99C>G (p.Asp33Glu) SNV Conflicting interpretations of pathogenicity 262467 rs35629723 5:110428085-110428085 5:111092387-111092387 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu) SNV Conflicting interpretations of pathogenicity 266060 rs142812715 10:13166053-13166053 10:13124053-13124053 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.489A>G (p.Glu163=) SNV Conflicting interpretations of pathogenicity 256881 rs113811959 10:13154572-13154572 10:13112572-13112572 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) SNV Conflicting interpretations of pathogenicity 7098 rs75654767 10:13178766-13178766 10:13136766-13136766 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.812G>A (p.Arg271His) SNV Conflicting interpretations of pathogenicity 877716 10:13164417-13164417 10:13122417-13122417 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.867G>C (p.Glu289Asp) SNV Conflicting interpretations of pathogenicity 877717 10:13164472-13164472 10:13122472-13122472 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.1633C>T (p.Arg545Trp) SNV Conflicting interpretations of pathogenicity 879707 10:13178765-13178765 10:13136765-13136765 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.376G>A (p.Asp126Asn) SNV Conflicting interpretations of pathogenicity 350303 rs115541547 5:110432794-110432794 5:111097096-111097096 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.1810A>G (p.Ile604Val) SNV Conflicting interpretations of pathogenicity 350319 rs34661294 5:110446903-110446903 5:111111204-111111204 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.444G>A (p.Val148=) SNV Conflicting interpretations of pathogenicity 299213 rs780011442 10:13154527-13154527 10:13112527-13112527 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.573A>G (p.Ser191=) SNV Conflicting interpretations of pathogenicity 299215 rs773095721 10:13158287-13158287 10:13116287-13116287 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.*1251C>G SNV Conflicting interpretations of pathogenicity 299236 rs542617940 10:13180117-13180117 10:13138117-13138117 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.963C>T (p.Ser321=) SNV Conflicting interpretations of pathogenicity 299218 rs150381274 10:13166075-13166075 10:13124075-13124075 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.1569G>A (p.Ala523=) SNV Conflicting interpretations of pathogenicity 299222 rs771316696 10:13175538-13175538 10:13133538-13133538 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.1427A>G (p.His476Arg) SNV Uncertain significance 299220 rs886046821 10:13174092-13174092 10:13132092-13132092 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.*938C>G SNV Uncertain significance 299232 rs886046826 10:13179804-13179804 10:13137804-13137804 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.*1089G>A SNV Uncertain significance 299235 rs758812707 10:13179955-13179955 10:13137955-13137955 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.*1385T>C SNV Uncertain significance 299238 rs546352206 10:13180251-13180251 10:13138251-13138251 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.*1063C>A SNV Uncertain significance 299234 rs530046832 10:13179929-13179929 10:13137929-13137929 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.-250C>A SNV Uncertain significance 299206 rs886046818 10:13142216-13142216 10:13100216-13100216 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.247C>T (p.Arg83Cys) SNV Uncertain significance 299209 rs756622651 10:13152354-13152354 10:13110354-13110354 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.425A>C (p.Gln142Pro) SNV Uncertain significance 299211 rs757411888 10:13154508-13154508 10:13112508-13112508 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.441G>A (p.Val147=) SNV Uncertain significance 299212 rs886046819 10:13154524-13154524 10:13112524-13112524 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.*218G>C SNV Uncertain significance 299225 rs886046824 10:13179084-13179084 10:13137084-13137084 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.*386C>A SNV Uncertain significance 299228 rs745564491 10:13179252-13179252 10:13137252-13137252 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.*413G>A SNV Uncertain significance 299229 rs886046825 10:13179279-13179279 10:13137279-13137279 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.961A>T (p.Ser321Cys) SNV Uncertain significance 299217 rs886046820 10:13166073-13166073 10:13124073-13124073 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.1243-13G>A SNV Uncertain significance 299219 rs374144660 10:13169732-13169732 10:13127732-13127732 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.*152G>T SNV Uncertain significance 299224 rs886046823 10:13179018-13179018 10:13137018-13137018 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.*306G>A SNV Uncertain significance 299227 rs538280633 10:13179172-13179172 10:13137172-13137172 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.*461G>A SNV Uncertain significance 299230 rs541250740 10:13179327-13179327 10:13137327-13137327 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008211.1(OPTN):c.-453G>T SNV Uncertain significance 299200 rs886046816 10:13142082-13142082 10:13100082-13100082 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*1040G>T SNV Uncertain significance 350360 rs56329138 5:110463621-110463621 5:111127923-111127923 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*945A>G SNV Uncertain significance 350356 rs886059769 5:110463526-110463526 5:111127828-111127828 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*1044_*1045insG insertion Uncertain significance 350361 rs886059770 5:110463625-110463626 5:111127927-111127928 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*1735A>T SNV Uncertain significance 350375 rs886059774 5:110464316-110464316 5:111128618-111128618 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*1740C>T SNV Uncertain significance 350376 rs886059775 5:110464321-110464321 5:111128623-111128623 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*2133C>A SNV Uncertain significance 350383 rs545595431 5:110464714-110464714 5:111129016-111129016 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*2282_*2284delCTT short repeat Uncertain significance 350385 rs886059780 5:110464860-110464862 5:111129162-111129164 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*2892G>A SNV Uncertain significance 350398 rs886059787 5:110465473-110465473 5:111129775-111129775 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*2223C>T SNV Uncertain significance 350384 rs886059779 5:110464804-110464804 5:111129106-111129106 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*2638T>G SNV Uncertain significance 350390 rs886059783 5:110465219-110465219 5:111129521-111129521 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*3457A>G SNV Uncertain significance 350404 rs886059789 5:110466038-110466038 5:111130340-111130340 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*3576A>G SNV Uncertain significance 350405 rs886059790 5:110466157-110466157 5:111130459-111130459 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*3598_*3602del deletion Uncertain significance 350407 rs886059792 5:110466176-110466180 5:111130478-111130482 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.-272G>T SNV Uncertain significance 299204 rs886046817 10:13142194-13142194 10:13100194-13100194 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*1061del deletion Uncertain significance 350363 rs886059771 5:110463641-110463641 5:111127943-111127943 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.*1042T>G SNV Uncertain significance 299233 rs886046827 10:13179908-13179908 10:13137908-13137908 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.*1285T>C SNV Uncertain significance 299237 rs560947786 10:13180151-13180151 10:13138151-13138151 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*230G>C SNV Uncertain significance 350343 rs766383050 5:110462811-110462811 5:111127113-111127113 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.2527G>A (p.Ala843Thr) SNV Uncertain significance 350335 rs886059765 5:110461314-110461314 5:111125616-111125616 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*450A>C SNV Uncertain significance 350349 rs886059767 5:110463031-110463031 5:111127333-111127333 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.1610-7C>T SNV Uncertain significance 350316 rs772432901 5:110446480-110446480 5:111110781-111110781 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*871T>C SNV Uncertain significance 350354 rs886059768 5:110463452-110463452 5:111127754-111127754 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*1040_*1050del deletion Uncertain significance 350359 rs532039350 5:110463617-110463627 5:111127919-111127929 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*1131T>C SNV Uncertain significance 350367 rs886059773 5:110463712-110463712 5:111128014-111128014 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*1434T>C SNV Uncertain significance 350371 rs559306601 5:110464015-110464015 5:111128317-111128317 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.851A>G (p.Lys284Arg) SNV Uncertain significance 350312 rs372900947 5:110439570-110439570 5:111103871-111103871 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.911T>C (p.Val304Ala) SNV Uncertain significance 350313 rs886059762 5:110439888-110439888 5:111104189-111104189 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.1885-20_1885-14delinsATATATATATA indel Uncertain significance 350324 rs886059764 5:110448753-110448759 5:111113054-111113060 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.1923G>A (p.Ala641=) SNV Uncertain significance 350325 rs144806510 5:110448811-110448811 5:111113112-111113112 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.-84G>A SNV Uncertain significance 350294 rs749165368 5:110427903-110427903 5:111092205-111092205 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.300C>T (p.Thr100=) SNV Uncertain significance 350299 rs199548073 5:110428286-110428286 5:111092588-111092588 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.712A>G (p.Lys238Glu) SNV Uncertain significance 350311 rs762142269 5:110438045-110438045 5:111102346-111102346 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.1692A>G (p.Lys564=) SNV Uncertain significance 350318 rs377765180 5:110446569-110446569 5:111110870-111110870 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.-114C>A SNV Uncertain significance 350293 rs886059760 5:110427873-110427873 5:111092175-111092175 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.-50C>T SNV Uncertain significance 350295 rs202090632 5:110427937-110427937 5:111092239-111092239 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*1775A>G SNV Uncertain significance 350378 rs886059776 5:110464356-110464356 5:111128658-111128658 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*2669A>T SNV Uncertain significance 350393 rs770321734 5:110465250-110465250 5:111129552-111129552 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.1885-20_1885-14delinsATATATATA indel Uncertain significance 350323 rs886059764 5:110448753-110448759 5:111113054-111113060 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.1967T>G (p.Leu656Arg) SNV Uncertain significance 350327 rs375389793 5:110454713-110454713 5:111119015-111119015 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.2706+8_2706+11dup duplication Uncertain significance 350336 rs886059766 5:110461500-110461501 5:111125802-111125803 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*83A>T SNV Uncertain significance 350339 rs139818247 5:110462664-110462664 5:111126966-111126966 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*500G>T SNV Uncertain significance 350350 rs568614520 5:110463081-110463081 5:111127383-111127383 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*1836T>C SNV Uncertain significance 350380 rs886059777 5:110464417-110464417 5:111128719-111128719 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*1918A>G SNV Uncertain significance 350381 rs886059778 5:110464499-110464499 5:111128801-111128801 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*2340C>G SNV Uncertain significance 350386 rs886059781 5:110464921-110464921 5:111129223-111129223 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*2585C>A SNV Uncertain significance 350388 rs886059782 5:110465166-110465166 5:111129468-111129468 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*2644A>G SNV Uncertain significance 350392 rs886059785 5:110465225-110465225 5:111129527-111129527 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*2644del deletion Uncertain significance 350391 rs747448169 5:110465224-110465224 5:111129526-111129526 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*2883A>T SNV Uncertain significance 350397 rs886059786 5:110465464-110465464 5:111129766-111129766 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*3125C>G SNV Uncertain significance 350401 rs886059788 5:110465706-110465706 5:111130008-111130008 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.*222G>C SNV Uncertain significance 877764 10:13179088-13179088 10:13137088-13137088 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.*335C>T SNV Uncertain significance 877765 10:13179201-13179201 10:13137201-13137201 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.*631A>G SNV Uncertain significance 878794 10:13179497-13179497 10:13137497-13137497 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.*1111A>C SNV Uncertain significance 879768 10:13179977-13179977 10:13137977-13137977 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.1243-9C>A SNV Uncertain significance 878758 10:13169736-13169736 10:13127736-13127736 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.1442C>T (p.Ala481Val) SNV Uncertain significance 447910 rs377219791 10:13174107-13174107 10:13132107-13132107 GLC092 Glaucoma, Primary Open Angle OPTN NC_000010.11:g.(?_13118878)_(13119050_?)del deletion Uncertain significance 832895 10:13160878-13161050 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.605C>T (p.Thr202Met) SNV Uncertain significance 861585 10:13158319-13158319 10:13116319-13116319 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.1533-3C>T SNV Uncertain significance 852864 10:13175499-13175499 10:13133499-13133499 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.626+4T>C SNV Uncertain significance 848382 10:13158344-13158344 10:13116344-13116344 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008211.1(OPTN):c.-408G>T SNV Uncertain significance 877641 10:13142127-13142127 10:13100127-13100127 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.-184C>G SNV Uncertain significance 879254 10:13142282-13142282 10:13100282-13100282 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.-172G>A SNV Uncertain significance 879255 10:13142294-13142294 10:13100294-13100294 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.-9A>G SNV Uncertain significance 880441 10:13151114-13151114 10:13109114-13109114 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.17T>G (p.Leu6Arg) SNV Uncertain significance 880442 10:13151139-13151139 10:13109139-13109139 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.359G>A (p.Arg120Lys) SNV Uncertain significance 878705 10:13152466-13152466 10:13110466-13110466 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.398G>A (p.Arg133Lys) SNV Uncertain significance 878706 10:13154481-13154481 10:13112481-13112481 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.403G>A (p.Glu135Lys) SNV Uncertain significance 651429 10:13154486-13154486 10:13112486-13112486 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.1402-3C>G SNV Uncertain significance 650247 10:13174064-13174064 10:13132064-13132064 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.14C>G (p.Pro5Arg) SNV Uncertain significance 565324 rs1564354765 10:13151136-13151136 10:13109136-13109136 GLC092 Glaucoma, Primary Open Angle LTBP2 NM_000428.3(LTBP2):c.4668G>C (p.Pro1556=) SNV Uncertain significance 126957 rs137854866 14:74970224-74970224 14:74503521-74503521 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.1569G>A (p.Met523Ile) SNV Uncertain significance 350315 rs375798656 5:110445962-110445962 5:111110263-111110263 GLC092 Glaucoma, Primary Open Angle LTBP2 NM_000428.3(LTBP2):c.3571G>A (p.Glu1191Lys) SNV Uncertain significance 126954 rs137854862 14:74975388-74975388 14:74508685-74508685 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.891C>T (p.Ser297=) SNV Likely benign 732003 10:13166003-13166003 10:13124003-13124003 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.1642G>A (p.Asp548Asn) SNV Likely benign 350317 rs146298769 5:110446519-110446519 5:111110820-111110820 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.540T>A (p.Thr180=) SNV Likely benign 350307 rs770526235 5:110434500-110434500 5:111098802-111098802 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.331-7dup duplication Likely benign 350301 rs201659734 5:110430605-110430606 5:111094907-111094908 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.402C>T (p.Gly134=) SNV Likely benign 350304 rs148990528 5:110432820-110432820 5:111097122-111097122 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.1401+21C>G SNV Likely benign 460308 rs553828705 10:13169924-13169924 10:13127924-13127924 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.909C>A (p.Asn303Lys) SNV Likely benign 705676 10:13166021-13166021 10:13124021-13124021 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.1973A>G (p.Asp658Gly) SNV Likely benign 1580 rs34595252 5:110454719-110454719 5:111119021-111119021 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.1345G>A (p.Ala449Thr) SNV Likely benign 1582 rs35703638 5:110441839-110441839 5:111106140-111106140 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.1586G>A (p.Arg529Gln) SNV Likely benign 1583 rs116529882 5:110445979-110445979 5:111110280-111110280 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*502C>T SNV Likely benign 350351 rs188780911 5:110463083-110463083 5:111127385-111127385 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*2636A>T SNV Likely benign 350389 rs145768538 5:110465217-110465217 5:111129519-111129519 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.2232A>G (p.Pro744=) SNV Likely benign 350333 rs201288071 5:110456755-110456755 5:111121057-111121057 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*2746A>G SNV Likely benign 350395 rs528818741 5:110465327-110465327 5:111129629-111129629 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*413T>C SNV Likely benign 350348 rs566884664 5:110462994-110462994 5:111127296-111127296 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*857A>G SNV Likely benign 350353 rs114769038 5:110463438-110463438 5:111127740-111127740 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*1080dup duplication Likely benign 350364 rs200793653 5:110463654-110463655 5:111127956-111127957 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*1448G>A SNV Likely benign 350372 rs181871045 5:110464029-110464029 5:111128331-111128331 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.51G>A (p.Pro17=) SNV Likely benign 350296 rs148831021 5:110428037-110428037 5:111092339-111092339 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.91C>A (p.Pro31Thr) SNV Likely benign 350298 rs148041801 5:110428077-110428077 5:111092379-111092379 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.358+12C>G SNV Likely benign 350302 rs144126376 5:110430657-110430657 5:111094959-111094959 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.1868G>A (p.Gly623Asp) SNV Likely benign 350320 rs543026736 5:110446961-110446961 5:111111262-111111262 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.635A>C (p.His212Pro) SNV Likely benign 350309 rs142088179 5:110436345-110436345 5:111100646-111100646 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.1963T>G (p.Cys655Gly) SNV Likely benign 350326 rs147964188 5:110448851-110448851 5:111113152-111113152 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.488C>T (p.Ala163Val) SNV Likely benign 350306 rs62376783 5:110434448-110434448 5:111098750-111098750 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.591G>A (p.Gln197=) SNV Likely benign 350308 rs137855986 5:110436301-110436301 5:111100602-111100602 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.636T>C (p.His212=) SNV Likely benign 350310 rs145835374 5:110436346-110436346 5:111100647-111100647 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.1057G>T (p.Ala353Ser) SNV Likely benign 350314 rs142687756 5:110440034-110440034 5:111104335-111104335 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*1559G>C SNV Likely benign 350374 rs149151603 5:110464140-110464140 5:111128442-111128442 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.74T>C (p.Leu25Pro) SNV Likely benign 350297 rs145437203 5:110428060-110428060 5:111092362-111092362 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.308G>A (p.Gly103Asp) SNV Likely benign 350300 rs140690485 5:110428294-110428294 5:111092596-111092596 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*1340G>A SNV Likely benign 350369 rs188323981 5:110463921-110463921 5:111128223-111128223 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*1104G>A SNV Likely benign 350365 rs147620363 5:110463685-110463685 5:111127987-111127987 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*903A>G SNV Likely benign 350355 rs185234710 5:110463484-110463484 5:111127786-111127786 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*360A>T SNV Likely benign 350346 rs529466006 5:110462941-110462941 5:111127243-111127243 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*1010G>A SNV Likely benign 350358 rs533342165 5:110463591-110463591 5:111127893-111127893 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*723C>G SNV Likely benign 350352 rs193032017 5:110463304-110463304 5:111127606-111127606 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*282A>G SNV Likely benign 350344 rs141199096 5:110462863-110462863 5:111127165-111127165 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.1879G>C (p.Asp627His) SNV Likely benign 350321 rs565004620 5:110446972-110446972 5:111111273-111111273 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.1992G>A (p.Ser664=) SNV Likely benign 350329 rs189495008 5:110454738-110454738 5:111119040-111119040 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.1981T>C (p.Leu661=) SNV Likely benign 350328 rs150378814 5:110454727-110454727 5:111119029-111119029 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.2137A>G (p.Ile713Val) SNV Likely benign 350331 rs78205337 5:110456258-110456258 5:111120560-111120560 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*60C>T SNV Likely benign 350338 rs186924041 5:110462641-110462641 5:111126943-111126943 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*93A>C SNV Likely benign 350340 rs114583874 5:110462674-110462674 5:111126976-111126976 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*171C>T SNV Likely benign 350342 rs185097062 5:110462752-110462752 5:111127054-111127054 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*1129C>A SNV Likely benign 350366 rs183583946 5:110463710-110463710 5:111128012-111128012 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.447G>A (p.Arg149=) SNV Likely benign 299214 rs555741399 10:13154530-13154530 10:13112530-13112530 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*2106T>C SNV Likely benign 350382 rs192008817 5:110464687-110464687 5:111128989-111128989 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*2764C>A SNV Likely benign 350396 rs4957925 5:110465345-110465345 5:111129647-111129647 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*2712C>A SNV Likely benign 350394 rs115749505 5:110465293-110465293 5:111129595-111129595 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*3102C>G SNV Likely benign 350400 rs6859454 5:110465683-110465683 5:111129985-111129985 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*2927G>A SNV Likely benign 350399 rs186873182 5:110465508-110465508 5:111129810-111129810 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*3238G>A SNV Likely benign 350402 rs377324420 5:110465819-110465819 5:111130121-111130121 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*3382C>A SNV Likely benign 350403 rs567232581 5:110465963-110465963 5:111130265-111130265 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*1202G>C SNV Likely benign 350368 rs116166244 5:110463783-110463783 5:111128085-111128085 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*952C>A SNV Likely benign 350357 rs189735907 5:110463533-110463533 5:111127835-111127835 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.1532+10AG[3] short repeat Likely benign 299221 rs374302388 10:13174207-13174208 10:13132207-13132208 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*3631C>T SNV Likely benign 369446 rs565965136 5:110466212-110466212 5:111130514-111130514 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008211.1(OPTN):c.-454C>T SNV Likely benign 368894 rs570587258 10:13142081-13142081 10:13100081-13100081 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.*562T>G SNV Benign/Likely benign 299231 rs148646641 10:13179428-13179428 10:13137428-13137428 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.-164+13A>G SNV Benign/Likely benign 299208 rs556917167 10:13142315-13142315 10:13100315-13100315 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) SNV Benign/Likely benign 7099 rs11258194 10:13152400-13152400 10:13110400-13110400 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.147C>T (p.Thr49=) SNV Benign/Likely benign 703912 10:13151269-13151269 10:13109269-13109269 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.964G>A (p.Glu322Lys) SNV Benign 703420 10:13166076-13166076 10:13124076-13124076 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.423T>C (p.Tyr141=) SNV Benign 350305 rs17132775 5:110432841-110432841 5:111097143-111097143 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.790A>G (p.Ile264Val) SNV Benign 262466 rs11241095 5:110439509-110439509 5:111103810-111103810 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.2181A>T (p.Val727=) SNV Benign 262465 rs13186912 5:110456704-110456704 5:111121006-111121006 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.553-10G>A SNV Benign 256882 rs11258210 10:13158257-13158257 10:13116257-13116257 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.626+24G>A SNV Benign 256883 rs11258211 10:13158364-13158364 10:13116364-13116364 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*45C>G SNV Benign 350337 rs11952807 5:110462626-110462626 5:111126928-111126928 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*120A>G SNV Benign 350341 rs79289431 5:110462701-110462701 5:111127003-111127003 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.964= (p.Glu322=) undetermined variant Benign 802562 10:13166076-13166076 10:13124076-13124076 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.102G>A (p.Thr34=) SNV Benign 96022 rs2234968 10:13151224-13151224 10:13109224-13109224 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.123G>A (p.Leu41=) SNV Benign 96023 rs11591687 10:13151245-13151245 10:13109245-13109245 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.553-5C>T SNV Benign 197846 rs2244380 10:13158262-13158262 10:13116262-13116262 GLC092 Glaucoma, Primary Open Angle LTBP2 NM_000428.3(LTBP2):c.4356G>A (p.Pro1452=) SNV Benign 126956 rs137854865 14:74971699-74971699 14:74504996-74504996 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.2519-8T>G SNV Benign 350334 rs10041326 5:110461298-110461298 5:111125600-111125600 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.2011A>G (p.Met671Val) SNV Benign 350330 rs11956837 5:110454757-110454757 5:111119059-111119059 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*338A>T SNV Benign 350345 rs17625012 5:110462919-110462919 5:111127221-111127221 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*406A>G SNV Benign 350347 rs2032835 5:110462987-110462987 5:111127289-111127289 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.1885-11_1885-10del deletion Benign 350322 rs201180028 5:110448752-110448753 5:111113053-111113054 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*1741C>T SNV Benign 350377 rs11954534 5:110464322-110464322 5:111128624-111128624 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*2576G>C SNV Benign 350387 rs114702659 5:110465157-110465157 5:111129459-111129459 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.2142C>G (p.Val714=) SNV Benign 350332 rs17624563 5:110456263-110456263 5:111120565-111120565 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*3592_*3593dupAT short repeat Benign 350406 rs150659473 5:110466162-110466163 5:111130464-111130465 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*1427T>C SNV Benign 350370 rs1043828 5:110464008-110464008 5:111128310-111128310 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008211.1(OPTN):c.-448G>T SNV Benign 299201 rs3814657 10:13142087-13142087 10:13100087-13100087 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008211.1(OPTN):c.-382T>C SNV Benign 299202 rs71492279 10:13142153-13142153 10:13100153-13100153 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.-274C>A SNV Benign 299203 rs552494483 10:13142192-13142192 10:13100192-13100192 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.-215G>A SNV Benign 299207 rs11548142 10:13142251-13142251 10:13100251-13100251 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.-255C>G SNV Benign 299205 rs2580915 10:13142211-13142211 10:13100211-13100211 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*1050T>G SNV Benign 350362 rs552084607 5:110463631-110463631 5:111127933-111127933 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*1533G>A SNV Benign 350373 rs17132810 5:110464114-110464114 5:111128416-111128416 GLC092 Glaucoma, Primary Open Angle WDR36 NM_139281.2(WDR36):c.*1812A>T SNV Benign 350379 rs11948089 5:110464393-110464393 5:111128695-111128695 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.627-10T>C SNV Benign 299216 rs80327830 10:13160878-13160878 10:13118878-13118878 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.402C>A (p.Ala134=) SNV Benign 299210 rs113955718 10:13154485-13154485 10:13112485-13112485 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.*1421T>G SNV Benign 368895 rs12415716 10:13180287-13180287 10:13138287-13138287 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.*269C>T SNV Benign 299226 rs111484304 10:13179135-13179135 10:13137135-13137135 GLC092 Glaucoma, Primary Open Angle OPTN NM_001008212.2(OPTN):c.1612+10G>A SNV Benign 299223 rs191671333 10:13175591-13175591 10:13133591-13133591 GLC092 Glaucoma, Primary Open Angle MECP2 NM_001110792.2(MECP2):c.1125_1165del (p.Lys376fs) deletion Pathogenic 393482 rs1064792898 X:153296150-153296190 X:154030699-154030739 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1060_1061insAG (p.Pro354fs) insertion Pathogenic 393483 rs1060499620 X:153296254-153296255 X:154030803-154030804 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.714del (p.Gln239fs) deletion Pathogenic 393485 rs1060499621 X:153296601-153296601 X:154031150-154031150 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1194_*261del (p.Pro399fs) deletion Pathogenic 393488 rs1557134621 X:153295557-153296121 X:154030106-154030670 RTT002 Rett Syndrome MECP2 NC_000023.10:g.(?_153287264)_(153363188_?)dup duplication Pathogenic 417368 X:153287264-153363188 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.786_810dup (p.Ala271delinsProArgGlnGluAlaLysSerTer) duplication Pathogenic 424884 rs1064797104 X:153296504-153296505 X:154031053-154031054 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.377_385del (p.Gly126_Ser128del) deletion Pathogenic 431705 rs1557137675 X:153297686-153297694 X:154032235-154032243 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1102_1202del (p.Ser369fs) deletion Pathogenic 435841 rs1557135664 X:153296113-153296213 X:154030662-154030762 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.251del (p.Pro84fs) deletion Pathogenic 435842 rs61754441 X:153297820-153297820 X:154032369-154032369 RTT002 Rett Syndrome GABBR2 NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr) SNV Pathogenic 446211 rs922847767 9:101133817-101133817 9:98371535-98371535 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1173dup (p.Val392fs) duplication Pathogenic 548031 rs1557135793 X:153296141-153296142 X:154030690-154030691 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.737_1311del (p.Ala246fs) deletion Pathogenic 584453 rs1569548274 X:153296004-153296578 X:154030553-154031127 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.917_1208del (p.Arg306fs) deletion Pathogenic 635826 X:153296107-153296398 X:154030656-154030947 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.648_649AG[1] (p.Glu217fs) short repeat Pathogenic 635824 X:153296664-153296665 X:154031213-154031214 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.95del (p.Gly32fs) deletion Pathogenic 635825 X:153297976-153297976 X:154032525-154032525 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.988dup (p.Glu330fs) duplication Pathogenic 637994 X:153296326-153296327 X:154030875-154030876 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1153_1207del (p.Ser385fs) deletion Pathogenic 804123 X:153296108-153296162 X:154030657-154030711 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.785dup (p.Gly264fs) duplication Pathogenic 804124 X:153296529-153296530 X:154031078-154031079 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.541G>T (p.Glu181Ter) SNV Pathogenic 804126 X:153296774-153296774 X:154031323-154031323 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.310_311dup (p.Pro105fs) duplication Pathogenic 804128 X:153297759-153297760 X:154032308-154032309 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.230C>T (p.Ser77Leu) SNV Pathogenic 816914 X:153297841-153297841 X:154032390-154032390 RTT002 Rett Syndrome MECP2 NC_000023.10:g.153296106_153296275delins[NC_000008.10:g.50305003_50392184inv;TTACACAG] indel Pathogenic 916025 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe) SNV Pathogenic 11496 rs122460157 X:18600062-18600062 X:18581942-18581942 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.525A>T (p.Arg175Ser) SNV Pathogenic 11497 rs61749700 X:18602444-18602444 X:18584324-18584324 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter) SNV Pathogenic 11500 rs122460158 X:18646494-18646494 X:18628374-18628374 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val) SNV Pathogenic 11502 rs122460159 X:18582616-18582616 X:18564496-18564496 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr) SNV Pathogenic 11503 rs62641235 X:18593543-18593543 X:18575423-18575423 RTT002 Rett Syndrome MECP2 MECP2, 11-BP DEL, EX1 deletion Pathogenic 11836 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.44_57dup (p.Arg20fs) duplication Pathogenic 804131 X:153363065-153363066 X:154097608-154097609 RTT002 Rett Syndrome MECP2 NC_000023.10:g.153296228_153298081del deletion Pathogenic 804290 X:153296228-153298081 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1089_*2300del (p.Pro363_Ter499delinsXaa) deletion Pathogenic 813730 X:153293518-153296226 X:154028067-154030775 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.500T>C (p.Phe167Ser) SNV Pathogenic 11810 rs28934905 X:153296815-153296815 X:154031364-154031364 RTT002 Rett Syndrome MECP2 MECP2, 1-BP DEL, 806G deletion Pathogenic 11812 RTT002 Rett Syndrome MECP2 MECP2, 44-BP DEL, NT1152 deletion Pathogenic 11813 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) SNV Pathogenic 11815 rs61750240 X:153296471-153296471 X:154031020-154031020 RTT002 Rett Syndrome MECP2 MECP2, IVS2AS, A-G, -2 SNV Pathogenic 11816 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1216G>T (p.Glu406Ter) SNV Pathogenic 11817 rs63094662 X:153296099-153296099 X:154030648-154030648 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.203_204del (p.Pro68fs) deletion Pathogenic 11818 rs267608434 X:153297867-153297868 X:154032416-154032417 RTT002 Rett Syndrome MECP2 MECP2, 41-BP DEL, NT1157 deletion Pathogenic,risk factor 11820 RTT002 Rett Syndrome MECP2 MECP2, 41-BP DEL, NT1159 deletion Pathogenic 11821 RTT002 Rett Syndrome MECP2 MECP2, 44-BP DEL, NT1159 deletion Pathogenic 11822 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) SNV Pathogenic 11824 rs28935468 X:153296363-153296363 X:154030912-154030912 RTT002 Rett Syndrome MECP2 MECP2, 1-BP DEL, 76C deletion Pathogenic 11826 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) SNV Pathogenic 11828 rs61748421 X:153296777-153296777 X:154031326-154031326 RTT002 Rett Syndrome MECP2 MECP2, 52-BP DEL deletion Pathogenic 11832 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter) SNV Pathogenic 11833 rs61748396 X:153296856-153296856 X:154031405-154031405 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1399G>T (p.Glu467Ter) SNV Pathogenic 11834 rs104894864 X:153295916-153295916 X:154030465-154030465 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.334C>G (p.Leu112Val) SNV Pathogenic 11835 rs28935168 X:153297737-153297737 X:154032286-154032286 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.710C>T (p.Pro237Leu) SNV Pathogenic 11841 rs61749715 X:153296605-153296605 X:154031154-154031154 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser) SNV Pathogenic 11843 rs61751449 X:153296315-153296315 X:154030864-154030864 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.746del (p.Gly249fs) deletion Pathogenic 11846 rs61749743 X:153296569-153296569 X:154031118-154031118 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu) SNV Pathogenic 95196 rs61748408 X:153296811-153296811 X:154031360-154031360 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.647C>G (p.Ser216Ter) SNV Pathogenic 95199 rs61749724 X:153296668-153296668 X:154031217-154031217 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.766C>T (p.Gln256Ter) SNV Pathogenic 95200 rs61749747 X:153296549-153296549 X:154031098-154031098 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.842del (p.Gly281fs) deletion Pathogenic 95202 rs61750241 X:153296473-153296473 X:154031022-154031022 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1099_1101AGC[2] (p.Ser369del) short repeat Pathogenic 143320 rs267608564 X:153296208-153296210 X:154030757-154030759 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.153dup (p.Glu52fs) duplication Pathogenic 143420 rs267608427 X:153297917-153297918 X:154032466-154032467 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.182C>A (p.Ser61Ter) SNV Pathogenic 143491 rs61754432 X:153297889-153297889 X:154032438-154032438 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.251dup (p.Ala85fs) duplication Pathogenic 143503 rs61754441 X:153297819-153297820 X:154032368-154032369 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.520dup (p.Arg174fs) duplication Pathogenic 143600 rs267608487 X:153296794-153296795 X:154031343-154031344 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.590del (p.Gly197fs) deletion Pathogenic 143619 rs61749707 X:153296725-153296725 X:154031274-154031274 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.91C>T (p.Gln31Ter) SNV Pathogenic 143620 rs61754425 X:153297980-153297980 X:154032529-154032529 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.602del (p.Gly201fs) deletion Pathogenic 143621 rs61749708 X:153296713-153296713 X:154031262-154031262 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.602dup (p.Arg202fs) duplication Pathogenic 143622 rs61749708 X:153296712-153296713 X:154031261-154031262 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.603dup (p.Arg202fs) duplication Pathogenic 143623 rs61749709 X:153296711-153296712 X:154031260-154031261 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.644_645insA (p.Ser216fs) insertion Pathogenic 143633 rs267608506 X:153296670-153296671 X:154031219-154031220 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.835A>T (p.Lys279Ter) SNV Pathogenic 143699 rs61750238 X:153296480-153296480 X:154031029-154031029 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.917_938del (p.Arg306fs) deletion Pathogenic 143725 rs267608540 X:153296377-153296398 X:154030926-154030947 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.934_937del (p.Val312fs) deletion Pathogenic 143728 rs62701461 X:153296378-153296381 X:154030927-154030930 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.934_940del (p.Val312fs) deletion Pathogenic 143729 rs267608543 X:153296375-153296381 X:154030924-154030930 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.934del (p.Val312fs) deletion Pathogenic 143730 rs267608544 X:153296381-153296381 X:154030930-154030930 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.637dup (p.Ala213fs) duplication Pathogenic 143632 rs267608503 X:153296677-153296678 X:154031226-154031227 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.(?_631)_(657_?)del (p.(?)) deletion Pathogenic 143643 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.506dup (p.Thr170fs) duplication Pathogenic 143588 rs267608482 X:153296808-153296809 X:154031357-154031358 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.519del (p.Arg174fs) deletion Pathogenic 143599 rs61748418 X:153296796-153296796 X:154031345-154031345 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.919del (p.Ser307fs) deletion Pathogenic 143726 rs267608541 X:153296396-153296396 X:154030945-154030945 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.579_580del (p.Pro194fs) deletion Pathogenic 143617 rs267608496 X:153296735-153296736 X:154031284-154031285 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.925C>T (p.Gln309Ter) SNV Pathogenic 143727 rs61751367 X:153296390-153296390 X:154030939-154030939 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.362dup (p.Gln122fs) duplication Pathogenic 143537 rs267608452 X:153297708-153297709 X:154032257-154032258 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.449T>A (p.Leu150Ter) SNV Pathogenic 143566 rs267608475 X:153296866-153296866 X:154031415-154031415 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.456del (p.Tyr153fs) deletion Pathogenic 143568 rs267608476 X:153296859-153296859 X:154031408-154031408 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.506_507del (p.Phe169fs) deletion Pathogenic 143587 rs267608483 X:153296808-153296809 X:154031357-154031358 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.251_252insT (p.Ala85fs) insertion Pathogenic 143502 rs1557137871 X:153297819-153297820 X:154032368-154032369 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1135_1154del (p.His379fs) deletion Pathogenic 143329 rs267608567 X:153296161-153296180 X:154030710-154030729 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1191_1219del (p.Pro399fs) deletion Pathogenic 143359 rs267608580 X:153296096-153296124 X:154030645-154030673 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1030_1034del (p.Ser344fs) deletion Pathogenic 143763 rs267608558 X:153296281-153296285 X:154030830-154030834 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.352C>T (p.Gln118Ter) SNV Pathogenic 143817 rs267608453 X:18598037-18598037 X:18579917-18579917 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.311dup (p.Pro105fs) duplication Pathogenic 143513 rs267608446 X:153297759-153297760 X:154032308-154032309 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.(?_-1)_(26_?)del deletion Pathogenic 143300 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1045_1063del (p.Lys349fs) deletion Pathogenic 143303 rs267608559 X:153296252-153296270 X:154030801-154030819 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.136_139del (p.Asp46fs) deletion Pathogenic 143304 rs61754428 X:153297932-153297935 X:154032481-154032484 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1065del (p.Arg356fs) deletion Pathogenic 143307 rs61751457 X:153296250-153296250 X:154030799-154030799 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1115C>A (p.Ser372Ter) SNV Pathogenic 143322 rs61752372 X:153296200-153296200 X:154030749-154030749 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.143_144del (p.Lys48fs) deletion Pathogenic 143323 rs267608425 X:153297927-153297928 X:154032476-154032477 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.143_149del (p.Lys48fs) deletion Pathogenic 143324 rs267608424 X:153297922-153297928 X:154032471-154032477 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1123A>T (p.Lys375Ter) SNV Pathogenic 143326 rs61752375 X:153296192-153296192 X:154030741-154030741 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.140_143AGAA[1] (p.Glu49fs) short repeat Pathogenic 143328 rs267608426 X:153297924-153297927 X:154032473-154032476 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1187_1224del (p.Pro396fs) deletion Pathogenic 143351 rs267608574 X:153296091-153296128 X:154030640-154030677 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1187_1227del (p.Pro396fs) deletion Pathogenic 143352 rs63749024 X:153296088-153296128 X:154030637-154030677 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1188_1191del (p.Pro397fs) deletion Pathogenic 143353 rs267608576 X:153296124-153296127 X:154030673-154030676 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1188_1231del (p.Pro397fs) deletion Pathogenic 143354 rs267608372 X:153296084-153296127 X:154030633-154030676 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1189_1226del (p.Pro397fs) deletion Pathogenic 143355 rs267608577 X:153296089-153296126 X:154030638-154030675 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1190_1221del (p.Pro397fs) deletion Pathogenic 143356 rs267608578 X:153296094-153296125 X:154030643-154030674 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1190_1233del (p.Pro397fs) deletion Pathogenic 143357 rs267608579 X:153296082-153296125 X:154030631-154030674 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1074C>G (p.Ser358Arg) SNV Pathogenic 143310 rs61752365 X:153296241-153296241 X:154030790-154030790 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1154C>G (p.Ser385Ter) SNV Pathogenic 143334 rs267608569 X:153296161-153296161 X:154030710-154030710 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1163_1173del (p.Pro388fs) deletion Pathogenic 143337 rs267608340 X:153296142-153296152 X:154030691-154030701 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1192_1193dup (p.Pro399fs) duplication Pathogenic 143361 rs267608584 X:153296121-153296122 X:154030670-154030671 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1192_1208del (p.Pro397_Leu398insTer) deletion Pathogenic 143362 rs267608582 X:153296107-153296123 X:154030656-154030672 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1193_1223del (p.Leu398fs) deletion Pathogenic 143365 rs61754419 X:153296092-153296122 X:154030641-154030671 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1193_1224del (p.Leu398fs) deletion Pathogenic 143366 rs267608585 X:153296091-153296122 X:154030640-154030671 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) deletion Pathogenic 143369 rs267608327 X:153296082-153296122 X:154030631-154030671 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1193_1235del (p.Leu398fs) deletion Pathogenic 143371 rs267608587 X:153296080-153296122 X:154030629-154030671 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs) deletion Pathogenic 143372 rs63749748 X:153296079-153296122 X:154030628-154030671 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1194_1203del (p.Pro399fs) deletion Pathogenic 143373 rs63583161 X:153296112-153296121 X:154030661-154030670 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1194_1222del (p.Pro399fs) deletion Pathogenic 143374 rs63749029 X:153296093-153296121 X:154030642-154030670 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1194_1222delinsCCA (p.Pro399fs) indel Pathogenic 143375 rs386134271 X:153296093-153296121 X:154030642-154030670 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1194_1234del (p.Pro399fs) deletion Pathogenic 143376 rs267608588 X:153296081-153296121 X:154030630-154030670 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1194_1236del (p.Pro399fs) deletion Pathogenic 143377 rs63009262 X:153296079-153296121 X:154030628-154030670 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1195_1196delinsT (p.Pro399fs) indel Pathogenic 143379 rs267608590 X:153296119-153296120 X:154030668-154030669 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1195_1237del (p.Pro399fs) deletion Pathogenic 143382 rs63749030 X:153296078-153296120 X:154030627-154030669 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1196_1202del (p.Pro399fs) deletion Pathogenic 143384 rs267608332 X:153296113-153296119 X:154030662-154030668 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1196_1221del (p.Pro399fs) deletion Pathogenic 143386 rs267608591 X:153296094-153296119 X:154030643-154030668 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1196_1224del (p.Pro399fs) deletion Pathogenic 143387 rs267608593 X:153296091-153296119 X:154030640-154030668 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1196_1236del (p.Pro399fs) deletion Pathogenic 143388 rs267608592 X:153296079-153296119 X:154030628-154030668 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1197_1241delinsA (p.Pro400_Pro401insTer) indel Pathogenic 143392 rs267608596 X:153296074-153296118 X:154030623-154030667 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1181_1230del (p.Leu394fs) deletion Pathogenic 143347 rs267608573 X:153296085-153296134 X:154030634-154030683 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1186_1228del (p.Pro396fs) deletion Pathogenic 143349 rs63749023 X:153296087-153296129 X:154030636-154030678 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1199_1215del (p.Pro400fs) deletion Pathogenic 143400 rs267608601 X:153296100-153296116 X:154030649-154030665 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1199_1224del (p.Pro400fs) deletion Pathogenic 143401 rs267608600 X:153296091-153296116 X:154030640-154030665 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1200del (p.Pro401fs) deletion Pathogenic 143408 rs267608606 X:153296115-153296115 X:154030664-154030664 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1201_1226del (p.Pro401fs) deletion Pathogenic 143409 rs267608607 X:153296089-153296114 X:154030638-154030663 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1203_1236del (p.Pro402fs) deletion Pathogenic 143411 rs267608343 X:153296079-153296112 X:154030628-154030661 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1200_1242del (p.Pro401fs) deletion Pathogenic 143405 rs267608603 X:153296073-153296115 X:154030622-154030664 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) deletion Pathogenic 143406 rs61752992 X:153296072-153296115 X:154030621-154030664 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.(?_1169)_(1170_?)del (p.(?)) deletion Pathogenic 143413 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1206_1243del (p.Pro402_Pro403insTer) deletion Pathogenic 143414 rs267608609 X:153296072-153296109 X:154030621-154030658 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1216_1241del (p.Glu406fs) deletion Pathogenic 143422 rs267608333 X:153296074-153296099 X:154030623-154030648 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1225G>T (p.Glu409Ter) SNV Pathogenic 143425 rs56268439 X:153296090-153296090 X:154030639-154030639 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1226dup (p.Asp410fs) duplication Pathogenic 143428 rs267608610 X:153296088-153296089 X:154030637-154030638 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1230_1231insT (p.Pro411fs) insertion Pathogenic 143429 rs61753011 X:153296084-153296085 X:154030633-154030634 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1233dup (p.Thr412fs) duplication Pathogenic 143432 rs267608612 X:153296081-153296082 X:154030630-154030631 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.153_154AG[1] (p.Glu52fs) short repeat Pathogenic 143433 rs267608428 X:153297915-153297916 X:154032464-154032465 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1236dup (p.Ser413fs) duplication Pathogenic 143434 rs267608613 X:153296078-153296079 X:154030627-154030628 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1238dup (p.Ser413fs) duplication Pathogenic 143436 rs267608614 X:153296076-153296077 X:154030625-154030626 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1271_1296del (p.Val424fs) deletion Pathogenic 143447 rs267608617 X:153296019-153296044 X:154030568-154030593 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1301_1325delinsAGCGGCCG (p.Gly434fs) indel Pathogenic 143451 rs63749064 X:153295990-153296014 X:154030539-154030563 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.162dup (p.His55fs) duplication Pathogenic 143453 rs61754430 X:153297908-153297909 X:154032457-154032458 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1344_1345del (p.Gln449fs) deletion Pathogenic 143457 rs61753972 X:153295970-153295971 X:154030519-154030520 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1356dup (p.Ala453fs) duplication Pathogenic 143459 rs267608624 X:153295958-153295959 X:154030507-154030508 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1393C>T (p.Arg465Ter) SNV Pathogenic 143467 rs61753979 X:153295922-153295922 X:154030471-154030471 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1400_1401insC (p.Glu467fs) insertion Pathogenic 143469 rs267608627 X:153295914-153295915 X:154030463-154030464 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.(?_1367)_(1431_?)del (p.(?)) deletion Pathogenic 143471 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.176dup (p.Pro60fs) duplication Pathogenic 143473 rs61754431 X:153297894-153297895 X:154032443-154032444 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1486_*12del (p.Arg496_Ter499del) deletion Pathogenic 143481 rs267608637 X:153295806-153295829 X:154030355-154030378 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1484_1485AG[1] (p.Arg496fs) short repeat Pathogenic 143482 rs267608638 X:153295826-153295829 X:154030375-154030378 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1484_1485AG[4] (p.Val497fs) short repeat Pathogenic 143484 rs267608638 X:153295825-153295826 X:154030374-154030375 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1490_1493del (p.Val497fs) deletion Pathogenic 143485 rs267608640 X:153295822-153295825 X:154030371-154030374 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1491_1492dup (p.Ser498fs) duplication Pathogenic 143486 rs267608641 X:153295822-153295823 X:154030371-154030372 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.182C>G (p.Ser61Ter) SNV Pathogenic 143492 rs61754432 X:153297889-153297889 X:154032438-154032438 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.223_224GA[1] (p.Glu75fs) short repeat Pathogenic 143497 rs61754436 X:153297845-153297846 X:154032394-154032395 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.230C>G (p.Ser77Ter) SNV Pathogenic 143498 rs61754437 X:153297841-153297841 X:154032390-154032390 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.237del (p.Ser80fs) deletion Pathogenic 143499 rs61754438 X:153297834-153297834 X:154032383-154032383 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.239C>G (p.Ser80Ter) SNV Pathogenic 143500 rs267608438 X:153297832-153297832 X:154032381-154032381 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter) SNV Pathogenic 143441 rs61753965 X:153296063-153296063 X:154030612-154030612 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1259_1301del (p.Leu420fs) deletion Pathogenic 143442 rs63749038 X:153296014-153296056 X:154030563-154030605 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.269del (p.Ser90fs) deletion Pathogenic 143507 rs267608442 X:153297802-153297802 X:154032351-154032351 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.279dup (p.Lys94fs) duplication Pathogenic 143508 rs267608443 X:153297791-153297792 X:154032340-154032341 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.294_295del (p.Ile99fs) deletion Pathogenic 143511 rs267608444 X:153297776-153297777 X:154032325-154032326 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.310G>T (p.Gly104Ter) SNV Pathogenic 143512 rs267608445 X:153297761-153297761 X:154032310-154032310 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.64G>T (p.Glu22Ter) SNV Pathogenic 143519 rs61754421 X:153298007-153298007 X:154032556-154032556 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.331_333del (p.Thr111del) deletion Pathogenic 143521 rs267608449 X:153297738-153297740 X:154032287-154032289 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.337C>T (p.Pro113Ser) SNV Pathogenic 143524 rs61754452 X:153297734-153297734 X:154032283-154032283 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.338C>A (p.Pro113His) SNV Pathogenic 143525 rs61754453 X:153297733-153297733 X:154032282-154032282 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg) SNV Pathogenic 143526 rs61754453 X:153297733-153297733 X:154032282-154032282 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.338C>T (p.Pro113Leu) SNV Pathogenic 143527 rs61754453 X:153297733-153297733 X:154032282-154032282 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.347G>A (p.Trp116Ter) SNV Pathogenic 143530 rs61754455 X:153297724-153297724 X:154032273-154032273 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.347_359del (p.Trp116fs) deletion Pathogenic 143531 rs63749010 X:153297712-153297724 X:154032261-154032273 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.351dup (p.Arg118fs) duplication Pathogenic 143532 rs61754456 X:153297719-153297720 X:154032268-154032269 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.353G>A (p.Arg118Gln) SNV Pathogenic 143534 rs61754457 X:153297718-153297718 X:154032267-154032267 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.381del (p.Ser128fs) deletion Pathogenic 143542 rs61755761 X:153297690-153297690 X:154032239-154032239 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.71_78dup (p.Asp27fs) duplication Pathogenic 143544 rs63749008 X:153297992-153297993 X:154032541-154032542 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.400G>A (p.Val134Met) SNV Pathogenic 143546 rs267608455 X:153297671-153297671 X:154032220-154032220 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.411del (p.Asn138fs) deletion Pathogenic 143551 rs267608457 X:153297660-153297660 X:154032209-154032209 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.416C>T (p.Pro139Leu) SNV Pathogenic 143552 rs267608387 X:153296899-153296899 X:154031448-154031448 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.418C>T (p.Gln140Ter) SNV Pathogenic 143553 rs267608469 X:153296897-153296897 X:154031446-154031446 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.434G>A (p.Arg145His) SNV Pathogenic 143559 rs61748389 X:153296881-153296881 X:154031430-154031430 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.437C>T (p.Ser146Phe) SNV Pathogenic 143563 rs61748390 X:153296878-153296878 X:154031427-154031427 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.439A>G (p.Lys147Glu) SNV Pathogenic 143564 rs61748391 X:153296876-153296876 X:154031425-154031425 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.447del (p.Glu149fs) deletion Pathogenic 143565 rs61748393 X:153296868-153296868 X:154031417-154031417 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.464_465insT (p.Glu155fs) insertion Pathogenic 143571 rs61748398 X:153296850-153296851 X:154031399-154031400 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.466A>T (p.Lys156Ter) SNV Pathogenic 143572 rs61748399 X:153296849-153296849 X:154031398-154031398 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.467del (p.Lys156fs) deletion Pathogenic 143573 rs61748400 X:153296848-153296848 X:154031397-154031397 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.475del (p.Asp159fs) deletion Pathogenic 143576 rs62952161 X:153296840-153296840 X:154031389-154031389 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.487del (p.Asp163fs) deletion Pathogenic 143577 rs61748402 X:153296828-153296828 X:154031377-154031377 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.508A>G (p.Thr170Ala) SNV Pathogenic 143590 rs61748411 X:153296807-153296807 X:154031356-154031356 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.511del (p.Thr170_Val171insTer) deletion Pathogenic 143592 rs267608485 X:153296804-153296804 X:154031353-154031353 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.516_517del (p.Gly173fs) deletion Pathogenic 143594 rs267608486 X:153296798-153296799 X:154031347-154031348 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.516del (p.Arg174fs) deletion Pathogenic 143595 rs61748415 X:153296799-153296799 X:154031348-154031348 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.544C>T (p.Gln182Ter) SNV Pathogenic 143604 rs61748425 X:153296771-153296771 X:154031320-154031320 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.86dup (p.Asp29fs) duplication Pathogenic 143605 rs267608416 X:153297984-153297985 X:154032533-154032534 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.628A>T (p.Arg210Ter) SNV Pathogenic 143629 rs61749717 X:153296687-153296687 X:154031236-154031236 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.634A>T (p.Lys212Ter) SNV Pathogenic 143631 rs61749718 X:153296681-153296681 X:154031230-154031230 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.647_648delinsAG (p.Ser216Ter) indel Pathogenic 143635 rs267608507 X:153296667-153296668 X:154031216-154031217 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.649G>T (p.Glu217Ter) SNV Pathogenic 143636 rs61749726 X:153296666-153296666 X:154031215-154031215 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.653del (p.Gly218fs) deletion Pathogenic 143639 rs61749727 X:153296662-153296662 X:154031211-154031211 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.656dup (p.Gln220fs) duplication Pathogenic 143640 rs61749728 X:153296658-153296659 X:154031207-154031208 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.658C>T (p.Gln220Ter) SNV Pathogenic 143641 rs61749729 X:153296657-153296657 X:154031206-154031206 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.100A>T (p.Lys34Ter) SNV Pathogenic 143647 rs62641234 X:153297971-153297971 X:154032520-154032520 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.687_688del (p.Gly230fs) deletion Pathogenic 143648 rs267608510 X:153296627-153296628 X:154031176-154031177 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.690_693del (p.Lys231fs) deletion Pathogenic 143649 rs61749734 X:153296622-153296625 X:154031171-154031174 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.709C>A (p.Pro237Thr) SNV Pathogenic 143652 rs267608513 X:153296606-153296606 X:154031155-154031155 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.828_829del (p.Pro277fs) deletion Pathogenic 143697 rs267608526 X:153296486-153296487 X:154031035-154031036 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg) SNV Pathogenic 143653 rs61749715 X:153296605-153296605 X:154031154-154031154 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.712_713insA (p.Phe238fs) insertion Pathogenic 143654 rs267608514 X:153296602-153296603 X:154031151-154031152 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.713_714insA (p.Phe238fs) insertion Pathogenic 143655 rs61749736 X:153296601-153296602 X:154031150-154031151 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.722C>A (p.Ser241Ter) SNV Pathogenic 143658 rs61749739 X:153296593-153296593 X:154031142-154031142 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.731del (p.Gly244fs) deletion Pathogenic 143662 rs63260260 X:153296584-153296584 X:154031133-154031133 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.731dup (p.Lys245fs) duplication Pathogenic 143663 rs63260260 X:153296583-153296584 X:154031132-154031133 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.732del (p.Lys245fs) deletion Pathogenic 143664 rs61749741 X:153296583-153296583 X:154031132-154031132 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.746dup (p.Gly250fs) duplication Pathogenic 143666 rs61749743 X:153296568-153296569 X:154031117-154031118 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.756dup (p.Thr253fs) duplication Pathogenic 143670 rs267608518 X:153296558-153296559 X:154031107-154031108 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.770_795del (p.Val257fs) deletion Pathogenic 143671 rs267608519 X:153296520-153296545 X:154031069-154031094 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.772_773insAT (p.Met258fs) insertion Pathogenic 143672 rs61749749 X:153296542-153296543 X:154031091-154031092 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.772_779delinsGTG (p.Met258fs) indel Pathogenic 143673 rs267608520 X:153296536-153296543 X:154031085-154031092 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.775del (p.Met258_Val259insTer) deletion Pathogenic 143674 rs61749750 X:153296540-153296540 X:154031089-154031089 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.783_787dup (p.Pro263fs) duplication Pathogenic 143675 rs1557136523 X:153296527-153296528 X:154031076-154031077 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.784_785insT (p.Arg262fs) insertion Pathogenic 143676 rs1557136549 X:153296530-153296531 X:154031079-154031080 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.784_789delinsGGCCG (p.Arg262fs) indel Pathogenic 143677 rs61750225 X:153296526-153296531 X:154031075-154031080 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.784dup (p.Arg262fs) duplication Pathogenic 143678 rs61749752 X:153296530-153296531 X:154031079-154031080 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.786delinsTCAGGAAGCTT (p.Pro263fs) indel Pathogenic 143682 rs267608521 X:153296529-153296529 X:154031078-154031078 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.788_789dup (p.Gly264fs) duplication Pathogenic 143684 rs61749751 X:153296525-153296526 X:154031074-154031075 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.789del (p.Gly264fs) deletion Pathogenic 143687 rs61749751 X:153296526-153296526 X:154031075-154031075 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.789dup (p.Gly264fs) duplication Pathogenic 143688 rs61749751 X:153296525-153296526 X:154031074-154031075 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.791del (p.Gly264fs) deletion Pathogenic 143689 rs61750232 X:153296524-153296524 X:154031073-154031073 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.791dup (p.Arg265fs) duplication Pathogenic 143690 rs61750232 X:153296523-153296524 X:154031072-154031073 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.792_795del (p.Arg265fs) deletion Pathogenic 143691 rs267608523 X:153296520-153296523 X:154031069-154031072 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.792_799dup (p.Arg267fs) duplication Pathogenic 143692 rs61750235 X:153296515-153296516 X:154031064-154031065 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.802_815dup (p.Asp272fs) duplication Pathogenic 143694 rs267608524 X:153296499-153296500 X:154031048-154031049 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.112del (p.Leu38fs) deletion Pathogenic 143695 rs61754426 X:153297959-153297959 X:154032508-154032508 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.820C>T (p.Gln274Ter) SNV Pathogenic 143696 rs267608525 X:153296495-153296495 X:154031044-154031044 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.567del (p.Lys189fs) deletion Pathogenic 143614 rs61749703 X:153296748-153296748 X:154031297-154031297 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.574A>T (p.Lys192Ter) SNV Pathogenic 143615 rs267608495 X:153296741-153296741 X:154031290-154031290 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.92dup (p.Leu33fs) duplication Pathogenic 143624 rs267608417 X:153297978-153297979 X:154032527-154032528 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.844del (p.Arg282fs) deletion Pathogenic 143702 rs62931162 X:153296471-153296471 X:154031020-154031020 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.846_849del (p.Lys283fs) deletion Pathogenic 143703 rs267608529 X:153296466-153296469 X:154031015-154031018 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.848_854del (p.Lys283fs) deletion Pathogenic 143704 rs61750242 X:153296461-153296467 X:154031010-154031016 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.852_868del (p.Gly285fs) deletion Pathogenic 143705 rs63749012 X:153296447-153296463 X:154030996-154031012 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.524_525del (p.Gly175fs) deletion Pathogenic 143601 rs267608488 X:153296790-153296791 X:154031339-154031340 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.866del (p.Ala289fs) deletion Pathogenic 143708 rs61750247 X:153296449-153296449 X:154030998-154030998 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.901A>T (p.Lys301Ter) SNV Pathogenic 143718 rs61750259 X:153296414-153296414 X:154030963-154030963 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.901_902del (p.Lys301fs) deletion Pathogenic 143719 rs267608536 X:153296413-153296414 X:154030962-154030963 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.905dup (p.Ser303fs) duplication Pathogenic 143720 rs267608538 X:153296409-153296410 X:154030958-154030959 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.888_891AAAG[1] (p.Lys298fs) short repeat Pathogenic 143714 rs61750256 X:153296420-153296423 X:154030969-154030972 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.910_911insA (p.Ser304fs) insertion Pathogenic 143722 rs61751361 X:153296404-153296405 X:154030953-154030954 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.916_920del (p.Arg306fs) deletion Pathogenic 143723 rs61751364 X:153296395-153296399 X:154030944-154030948 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.940C>T (p.Pro314Ser) SNV Pathogenic 143735 rs61751373 X:153296375-153296375 X:154030924-154030924 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.941C>G (p.Pro314Arg) SNV Pathogenic 143737 rs61749723 X:153296374-153296374 X:154030923-154030923 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.127del (p.Lys42_Val43insTer) deletion Pathogenic 143748 rs61754427 X:153297944-153297944 X:154032493-154032493 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.942del (p.Ile315fs) deletion Pathogenic 143740 rs267608548 X:153296373-153296373 X:154030922-154030922 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu) SNV Pathogenic 143754 rs61751450 X:153296314-153296314 X:154030863-154030863 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter) SNV Pathogenic 143780 rs267608643 X:18622692-18622692 X:18604572-18604572 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) SNV Pathogenic 143781 rs267608395 X:18622719-18622719 X:18604599-18604599 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.1708G>T (p.Glu570Ter) SNV Pathogenic 143782 rs267608644 X:18622752-18622752 X:18604632-18604632 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter) SNV Pathogenic 143783 rs62653623 X:18593503-18593503 X:18575383-18575383 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.183del (p.Met63fs) deletion Pathogenic 143785 rs62643608 X:18593510-18593510 X:18575390-18575390 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.1892_1893dup (p.Gly632Ter) duplication Pathogenic 143787 rs267608646 X:18622934-18622935 X:18604814-18604815 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe) SNV Pathogenic 143791 rs267608437 X:18593527-18593527 X:18575407-18575407 RTT002 Rett Syndrome CDKL5 NM_003159.2(CDKL5):c.2045_2046delAGins18 (p.?) indel Pathogenic 143794 X:18627031-18627032 X:18608911-18608912 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.215T>A (p.Ile72Asn) SNV Pathogenic 143797 rs62641235 X:18593543-18593543 X:18575423-18575423 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.2343del (p.Arg781fs) deletion Pathogenic 143801 rs62643614 X:18638052-18638052 X:18619932-18619932 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) SNV Pathogenic 143823 rs267608493 X:18602451-18602451 X:18584331-18584331 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.607G>T (p.Glu203Ter) SNV Pathogenic 143829 rs267608505 X:18606126-18606126 X:18588006-18588006 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.838_847del (p.Asp281fs) deletion Pathogenic 143834 rs61750250 X:18616592-18616601 X:18598472-18598481 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.26+2T>A SNV Pathogenic 156045 rs267608409 X:153357640-153357640 X:154092182-154092182 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.27-2A>G SNV Pathogenic 156046 rs267608412 X:153298010-153298010 X:154032559-154032559 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.27-6C>G SNV Pathogenic 156048 rs267608411 X:153298014-153298014 X:154032563-154032563 RTT002 Rett Syndrome MECP2 NM_001110792.1(MECP2):c.1025_10320delAGAAGAinsGCATCTTCTCCTCTTT (p.?) indel Pathogenic 143760 rs61751456 X:153296285-153296290 X:154030834-154030839 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.1311dup (p.Ser438fs) duplication Pathogenic 143774 rs267608623 X:18622354-18622355 X:18604234-18604235 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.377+1G>A SNV Pathogenic 156052 rs267608463 X:153297657-153297657 X:154032206-154032206 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.377+1G>T SNV Pathogenic 156053 rs267608463 X:153297657-153297657 X:154032206-154032206 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.378-2A>C SNV Pathogenic 156065 rs267608464 X:153296903-153296903 X:154031452-154031452 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.378-2A>G SNV Pathogenic 156066 rs267608464 X:153296903-153296903 X:154031452-154031452 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.378-2A>T SNV Pathogenic 156067 rs267608464 X:153296903-153296903 X:154031452-154031452 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.145+2T>C SNV Pathogenic 156074 rs267608430 X:18582644-18582644 X:18564524-18564524 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.2047-1G>A SNV Pathogenic 156077 rs267608650 X:18627584-18627584 X:18609464-18609464 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.520A>G (p.Arg174Gly) SNV Pathogenic 180209 rs727505391 X:153296795-153296795 X:154031344-154031344 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.538C>A (p.Arg180=) SNV Pathogenic 189712 rs61748421 X:153296777-153296777 X:154031326-154031326 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.(?_-226)_(*1_?)del deletion Pathogenic 189676 RTT002 Rett Syndrome MECP2 NM_004992.3:c.(?_27)_(378_1461)del deletion Pathogenic 189681 RTT002 Rett Syndrome MECP2 NM_004992.3:c.(?_27)_(1021_?)del deletion Pathogenic 189685 RTT002 Rett Syndrome MECP2 NM_004992.3:c.(?_27)_(1185_?)del deletion Pathogenic 189688 RTT002 Rett Syndrome MECP2 NM_004992.3:c.(?_27)_(378_?)del deletion Pathogenic 189692 RTT002 Rett Syndrome MECP2 NM_004992.3:c.343_1182del deletion Pathogenic 189702 RTT002 Rett Syndrome MECP2 NM_004992.3:c.(?_27)_(1397_?)del deletion Pathogenic 189690 RTT002 Rett Syndrome MECP2 NM_004992.3:c.(?_184)_(1065_?)del deletion Pathogenic 189675 RTT002 Rett Syndrome MECP2 NM_004992.3:c.(?_27)_(*1_?)del deletion Pathogenic 189682 RTT002 Rett Syndrome MECP2 NM_004992.3:c.(?_27)_(*8554_?)del deletion Pathogenic 189683 RTT002 Rett Syndrome MECP2 NM_004992.3:c.(?_27)_(1018_?)del deletion Pathogenic 189684 RTT002 Rett Syndrome MECP2 NM_004992.3:c.(?_27)_(1029_?)del deletion Pathogenic 189686 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1444_1447delinsTG (p.Asn482fs) indel Pathogenic 189674 rs786205023 X:153295868-153295871 X:154030417-154030420 RTT002 Rett Syndrome MECP2 NM_004992.3:c.(?_27)_(1170_?)del deletion Pathogenic 189687 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.-98-?_377+?del deletion Pathogenic 189739 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.(?_-226)_26+?del deletion Pathogenic 189677 X:153357642-153363188 RTT002 Rett Syndrome MECP2 nsv1197494 deletion Pathogenic 189634 X:153281346-153296256 X:154015897-154030807 RTT002 Rett Syndrome MECP2 NC_000023.11:g.154016489_154067020delinsTTTCCGACAAAGGT indel Pathogenic 189680 X:153281940-153332471 X:154016489-154067020 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.(?_1336)_*(1_?)del deletion Pathogenic 189672 X:153295817-153295943 X:154030366-154030492 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.(?_1169)_*(1_?)del deletion Pathogenic 189630 X:153295817-153296110 X:154030366-154030659 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.(?_378)_*(1_?)del deletion Pathogenic 189703 X:153295817-153296901 X:154030366-154031450 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.(?_1044)_(1442_?)del (p.(?)) deletion Pathogenic 189639 X:153295837-153296235 X:154030386-154030784 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.(?_1169)_(1397_?)del (p.(?)) deletion Pathogenic 189667 X:153295882-153296110 X:154030431-154030659 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.(?_1017)_(1397_?)del (p.(?)) deletion Pathogenic 189633 X:153295882-153296262 X:154030431-154030811 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.1101_(1396_?)del deletion Pathogenic 189649 X:153295883-153296178 X:154030432-154030727 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.(?_378)_(1337_?)del (p.(?)) deletion Pathogenic 189706 X:153295942-153296901 X:154030491-154031450 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.(?_378)_(1185_?)del (p.(?)) deletion Pathogenic 189705 X:153296094-153296901 X:154030643-154031450 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.(?_378)_(1170_?)del (p.(?)) deletion Pathogenic 189704 X:153296109-153296901 X:154030658-154031450 RTT002 Rett Syndrome CDKL5 NM_003159.2(CDKL5):c.-253_64+?del deletion Pathogenic 189578 X:18443725-18525280 X:18425605-18507160 RTT002 Rett Syndrome CDKL5 NM_003159.2(CDKL5):c.-253_99+?del deletion Pathogenic 189581 X:18443725-18528974 X:18425605-18510854 RTT002 Rett Syndrome CDKL5 NM_003159.2(CDKL5):c.(?_-253)_-162-27968del deletion Pathogenic 189576 X:18443725-18497087 X:18425605-18478967 RTT002 Rett Syndrome CDKL5 NM_003159.2(CDKL5):c.-162-?_99+?del deletion Pathogenic 189564 RTT002 Rett Syndrome CDKL5 NM_003159.2(CDKL5):c.404-?_554+?del deletion Pathogenic 189587 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.27-12521_*5072del deletion Pathogenic 189693 X:153290746-153310529 X:154025295-154045078 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1114_*2524del (p.Ser372fs) deletion Pathogenic 189644 X:153293294-153296201 X:154027843-154030750 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1165_*568delinsCCGTGG (p.Lys389fs) indel Pathogenic 189656 rs1557134378 X:153295250-153296150 X:154029799-154030699 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1193_*944del (p.Leu398fs) deletion Pathogenic 189661 X:153294874-153296122 X:154029423-154030671 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.27-4722_*739delins43 indel Pathogenic 189696 X:153295079-153302730 X:154029628-154037279 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.1276_*113del299ins3 indel Pathogenic 189671 X:153295705-153296003 X:154030254-154030552 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.27-4722_*112delinsCACTTTGTG indel Pathogenic 189695 X:153295706-153302730 X:154030255-154037279 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1199_*39del (p.Pro400fs) deletion Pathogenic 189664 rs1557134770 X:153295779-153296116 X:154030328-154030665 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1188_*29del (p.Pro396_Ter499delinsXaa) deletion Pathogenic 189660 rs1557134779 X:153295789-153296127 X:154030338-154030676 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1133_*13del (p.His378_Ter499delinsXaa) deletion Pathogenic 189646 rs1557134819 X:153295805-153296182 X:154030354-154030731 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.414_1497del (p.Pro139fs) deletion Pathogenic 189707 X:153295818-153296901 X:154030367-154031450 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1195_1494del (p.Pro399_Ser498del) deletion Pathogenic 189663 rs1557134858 X:153295821-153296120 X:154030370-154030669 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.763_1383del621ins15 (p.?) indel Pathogenic 189717 X:153295896-153296516 X:154030445-154031065 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1030_1382del (p.Ser344fs) deletion Pathogenic 189740 rs1557135016 X:153295933-153296285 X:154030482-154030834 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1151_1362del (p.His384fs) deletion Pathogenic 189651 rs1557135076 X:153295953-153296164 X:154030502-154030713 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.747_1305del (p.Gly250fs) deletion Pathogenic 189715 rs1557135125 X:153296010-153296568 X:154030559-154031117 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.998_1303delinsG (p.Lys333fs) indel Pathogenic 189738 rs1557135128 X:153296012-153296317 X:154030561-154030866 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1232_1302del (p.Pro411fs) deletion Pathogenic 189669 rs1557135137 X:153296013-153296083 X:154030562-154030632 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.885_1272del (p.Lys296fs) deletion Pathogenic 189727 rs1557135197 X:153296043-153296430 X:154030592-154030979 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.463+1G>A SNV Pathogenic 156088 rs267608479 X:18600071-18600071 X:18581951-18581951 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1152_1237del (p.His384fs) deletion Pathogenic 156339 rs1557135314 X:153296078-153296163 X:154030627-154030712 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.211A>G (p.Asn71Asp) SNV Pathogenic 156591 rs587783072 X:18593539-18593539 X:18575419-18575419 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1A>T (p.Met1Leu) SNV Pathogenic 156661 rs587783132 X:153363122-153363122 X:154097665-154097665 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.(?_27)_(367_?)del (p.(?)) deletion Pathogenic 189691 X:153297668-153298008 X:154032217-154032557 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.(?_248)_(320_?)del (p.(?)) deletion Pathogenic 189678 X:153297715-153297787 X:154032264-154032336 RTT002 Rett Syndrome MECP2 NM_001110792.1(MECP2):c.(?_1)_(62_?)del (p.(?)) deletion Pathogenic 189778 X:153363061-153363122 X:154097604-154097665 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1178_1263del (p.Pro393fs) deletion Pathogenic 189659 rs1557135212 X:153296052-153296137 X:154030601-154030686 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1141_1261del (p.His381fs) deletion Pathogenic 189650 rs1557135213 X:153296054-153296174 X:154030603-154030723 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.903_1259delinsA (p.Ser303fs) indel Pathogenic 189730 rs1557135218 X:153296056-153296412 X:154030605-154030961 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1093_1255del (p.Gly365fs) deletion Pathogenic 189643 rs1557135225 X:153296060-153296222 X:154030609-154030771 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1082_1242del (p.Ser361fs) deletion Pathogenic 189640 rs1557135268 X:153296073-153296233 X:154030622-154030782 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1159_1238del (p.Ser387fs) deletion Pathogenic 189653 rs1557135299 X:153296077-153296156 X:154030626-154030705 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1048_1238del (p.Thr350fs) deletion Pathogenic 189632 rs1557135300 X:153296077-153296267 X:154030626-154030816 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.63-94_1243del deletion Pathogenic 189700 X:153296072-153298102 X:154030621-154032651 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1133_1239del (p.His378fs) deletion Pathogenic 189647 rs1557135285 X:153296076-153296182 X:154030625-154030731 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1168_1238del (p.Ala390fs) deletion Pathogenic 189658 rs1557135295 X:153296077-153296147 X:154030626-154030696 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1137_1237del (p.His379fs) deletion Pathogenic 189648 rs1557135315 X:153296078-153296178 X:154030627-154030727 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1132_1237del (p.His378fs) deletion Pathogenic 189645 rs1557135317 X:153296078-153296183 X:154030627-154030732 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1088_1236del (p.Pro363fs) deletion Pathogenic 189642 rs1557135338 X:153296079-153296227 X:154030628-154030776 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1084_1235del (p.Ser362fs) deletion Pathogenic 189641 rs1557135350 X:153296080-153296231 X:154030629-154030780 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1075_1231delinsGT (p.Lys359fs) indel Pathogenic 189637 rs1557135400 X:153296084-153296240 X:154030633-154030789 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1066_1231delinsGT (p.Arg356fs) indel Pathogenic 189636 rs1557135402 X:153296084-153296249 X:154030633-154030798 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1200_1230del (p.Pro403fs) deletion Pathogenic 189666 rs786205020 X:153296085-153296115 X:154030634-154030664 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1048_1229del (p.Thr350fs) deletion Pathogenic 189631 rs1557135426 X:153296086-153296267 X:154030635-154030816 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1157_1227del (p.Glu386fs) deletion Pathogenic 189652 rs1557135447 X:153296088-153296158 X:154030637-154030707 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.27-6026_1190delinsGT indel Pathogenic 189698 X:153296089-153304034 X:154030638-154038583 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.27-6215_1190del deletion Pathogenic 189699 X:153296089-153304223 X:154030638-154038772 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.524_1225del (p.Gly175_Ser408del) deletion Pathogenic 189711 rs1557135461 X:153296090-153296791 X:154030639-154031340 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.418_1225del (p.Gln140fs) deletion Pathogenic 189708 rs1557135463 X:153296090-153296897 X:154030639-154031446 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.887_1224del (p.Lys296fs) deletion Pathogenic 189728 rs1557135499 X:153296091-153296428 X:154030640-154030977 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1200_1220delinsCTGAGCCCCAGGACTTGAGCA (p.Pro401_Ser407delinsTer) indel Pathogenic 189665 rs786205019 X:153296095-153296115 X:154030644-154030664 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.858_1220del (p.Val287_Ser407del) deletion Pathogenic 189724 rs1557135541 X:153296095-153296457 X:154030644-154031006 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.27-3928_1184del deletion Pathogenic 189694 X:153296095-153301936 X:154030644-154036485 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1216_1217insT (p.Glu406fs) insertion Pathogenic 189668 rs786205021 X:153296098-153296099 X:154030647-154030648 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1163_1215del (p.Pro388fs) deletion Pathogenic 189654 rs1557135575 X:153296100-153296152 X:154030649-154030701 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.803_1211del (p.Lys268fs) deletion Pathogenic 189720 rs1557135596 X:153296104-153296512 X:154030653-154031061 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.950_1208del (p.Lys317fs) deletion Pathogenic 189736 rs1557135622 X:153296107-153296365 X:154030656-154030914 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.767_1202del (p.Gln256fs) deletion Pathogenic 189716 rs1557135670 X:153296113-153296548 X:154030662-154031097 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.820_1153del334ins67 (p.?) indel Pathogenic 189723 X:153296126-153296459 X:154030675-154031008 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.943_1140del198ins6 indel Pathogenic 189737 X:153296139-153296336 X:154030688-154030885 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.942_1174delinsAC (p.Ile315_Val392delinsLeu) indel Pathogenic 189735 rs1557135788 X:153296141-153296373 X:154030690-154030922 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.652_1158del (p.Gly218_Glu386del) deletion Pathogenic 189713 rs1557135847 X:153296157-153296663 X:154030706-154031212 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.934_1135del (p.Val312fs) deletion Pathogenic 189734 rs1557135893 X:153296180-153296381 X:154030729-154030930 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1064_1194del (p.Gly355fs) deletion Pathogenic 189635 rs1557135728 X:153296121-153296251 X:154030670-154030800 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.445_1194del (p.Glu149_Leu398del) deletion Pathogenic 189709 rs1557135739 X:153296121-153296870 X:154030670-154031419 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.930_1131del (p.Glu310fs) deletion Pathogenic 189733 rs1557135907 X:153296184-153296385 X:154030733-154030934 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.481_987del507ins8 indel Pathogenic 189710 X:153296292-153296798 X:154030841-154031347 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.870_975del (p.Ala291fs) deletion Pathogenic 189726 rs1557136146 X:153296340-153296445 X:154030889-154030994 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.27-5774_902delinsGTGCCCGGACTGATGTCA indel Pathogenic 189697 X:153296377-153303782 X:154030926-154038331 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.905_916delinsCACA (p.Glu302fs) indel Pathogenic 189731 rs786205031 X:153296399-153296410 X:154030948-154030959 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.891_895delinsAAAAAAAAGACT (p.Ala299fs) indel Pathogenic 189729 rs786205030 X:153296420-153296424 X:154030969-154030973 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.830_831ins23 (p.?) insertion Pathogenic 189725 X:153296448-153296449 X:154030997-154030998 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.821_854del (p.Gln274fs) deletion Pathogenic 189721 rs786205028 X:153296461-153296494 X:154031010-154031043 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.802A>T (p.Lys268Ter) SNV Pathogenic 189719 rs786205027 X:153296513-153296513 X:154031062-154031062 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.725_792del (p.Pro242fs) deletion Pathogenic 189714 rs1557136493 X:153296523-153296590 X:154031072-154031139 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.354_357dup (p.Leu120fs) duplication Pathogenic 189701 rs786205025 X:153297713-153297714 X:154032262-154032263 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.62+2_62+3del short repeat Pathogenic 189777 rs786205049 X:153363058-153363059 X:154097601-154097602 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.62+1G>A SNV Pathogenic 189776 rs786205048 X:153363060-153363060 X:154097603-154097603 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.55_56GA[2] (p.Arg20fs) short repeat Pathogenic 189775 rs786205047 X:153363063-153363064 X:154097606-154097607 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.47_57del (p.Gly16fs) deletion Pathogenic 189770 rs786205042 X:153363066-153363076 X:154097609-154097619 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.48_55del (p.Glu18fs) deletion Pathogenic 189771 rs786205043 X:153363068-153363075 X:154097611-154097618 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.48_55dup (p.Glu19fs) duplication Pathogenic 189772 rs786205043 X:153363067-153363068 X:154097610-154097611 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.48C>T (p.Gly16=) SNV Pathogenic 189773 rs786205045 X:153363075-153363075 X:154097618-154097618 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.907_1080del (p.Ile305_Ser362del) deletion Pathogenic 189732 rs1557136013 X:153296235-153296408 X:154030784-154030957 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.30delinsGA (p.Ser10fs) indel Pathogenic 189767 rs786205040 X:153363093-153363093 X:154097636-154097636 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.18_22CGCCG[3] (p.Ser10fs) short repeat Pathogenic 189765 rs786205038 X:153363095-153363096 X:154097638-154097639 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.283-3_290del deletion Pathogenic 189585 rs786204983 X:18597964-18597974 X:18579844-18579854 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.403+1G>A SNV Pathogenic 189586 rs786204984 X:18598089-18598089 X:18579969-18579969 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.464-1G>A SNV Pathogenic 189591 rs786204986 X:18602382-18602382 X:18584262-18584262 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.510_511dup (p.Tyr171fs) duplication Pathogenic 189593 rs786204988 X:18602428-18602429 X:18584308-18584309 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.528G>T (p.Trp176Cys) SNV Pathogenic 189595 rs786204989 X:18602447-18602447 X:18584327-18584327 RTT002 Rett Syndrome MECP2 NM_004992.3:c.(?_27)_(1337_?)del deletion Pathogenic 189689 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.660_664dup (p.Thr222fs) duplication Pathogenic 189597 rs786204990 X:18606178-18606179 X:18588058-18588059 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.942del (p.Lys314fs) deletion Pathogenic 189600 rs786204992 X:18616695-18616695 X:18598575-18598575 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.1090G>T (p.Glu364Ter) SNV Pathogenic 189553 rs786204966 X:18622134-18622134 X:18604014-18604014 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.1341del (p.Phe447fs) deletion Pathogenic 189555 rs786204968 X:18622385-18622385 X:18604265-18604265 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.1375C>T (p.Gln459Ter) SNV Pathogenic 189556 rs786204969 X:18622419-18622419 X:18604299-18604299 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.1417dup (p.Ile473fs) duplication Pathogenic 189557 rs786204970 X:18622459-18622460 X:18604339-18604340 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.1550del (p.Phe517fs) deletion Pathogenic 189560 rs786204972 X:18622593-18622593 X:18604473-18604473 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.1854del (p.Asp618fs) deletion Pathogenic 189567 rs786204975 X:18622898-18622898 X:18604778-18604778 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.2704C>T (p.Gln902Ter) SNV Pathogenic 189583 rs786204981 X:18646698-18646698 X:18628578-18628578 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1182_*452del (p.Leu394_Ter499delinsXaa) deletion Pathogenic 192292 rs1557134481 X:153295366-153296133 X:154029915-154030682 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1199_1319delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA (p.Pro400_Gly440delinsGlnTer) indel Pathogenic 192290 rs1557135110 X:153295996-153296116 X:154030545-154030665 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.426del (p.Ala143fs) deletion Pathogenic 192294 rs786205895 X:153296889-153296889 X:154031438-154031438 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.62+5395A>T SNV Pathogenic 192289 rs786205892 X:153357667-153357667 X:154092209-154092209 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1194_*117del (p.Pro399fs) deletion Pathogenic 211451 rs1557134720 X:153295701-153296121 X:154030250-154030670 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1043_1230del (p.Leu348fs) deletion Pathogenic 211450 rs1557135418 X:153296085-153296272 X:154030634-154030821 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.934_1202del (p.Val312fs) deletion Pathogenic 211467 rs1557135666 X:153296113-153296381 X:154030662-154030930 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.701_707dup (p.Met236fs) duplication Pathogenic 211463 rs797045695 X:153296607-153296608 X:154031156-154031157 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.83_93del (p.Gln28fs) deletion Pathogenic 211461 rs797045694 X:153297978-153297988 X:154032527-154032537 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.30_31del (p.Ser10fs) deletion Pathogenic 211460 rs797045693 X:153363092-153363093 X:154097635-154097636 RTT002 Rett Syndrome MECP2 NM_001110792.1:c.384_1164del deletion Pathogenic 211468 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1270_1373del (p.Val424fs) deletion Pathogenic 374413 rs1557135039 X:153295942-153296045 X:154030491-154030594 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.858_859TG[1] (p.Val287fs) short repeat Pathogenic 374414 rs1557136374 X:153296454-153296455 X:154031003-154031004 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.378-3C>G SNV Pathogenic/Likely pathogenic 156068 rs267608465 X:153296904-153296904 X:154031453-154031453 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.953G>A (p.Arg318His) SNV Pathogenic/Likely pathogenic 143746 rs61751443 X:153296362-153296362 X:154030911-154030911 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs) deletion Pathogenic/Likely pathogenic 143779 rs267608433 X:18593488-18593491 X:18575368-18575371 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) deletion Pathogenic/Likely pathogenic 143809 rs61753251 X:18646629-18646630 X:18628509-18628510 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) SNV Pathogenic/Likely pathogenic 143749 rs61751444 X:153296354-153296354 X:154030903-154030903 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu) SNV Pathogenic/Likely pathogenic 143738 rs61749723 X:153296374-153296374 X:154030923-154030923 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) SNV Pathogenic/Likely pathogenic 143562 rs61748390 X:153296878-153296878 X:154031427-154031427 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) SNV Pathogenic/Likely pathogenic 11829 rs61749721 X:153296516-153296516 X:154031065-154031065 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) SNV Pathogenic/Likely pathogenic 11823 rs28934908 X:153296860-153296860 X:154031409-154031409 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) SNV Pathogenic/Likely pathogenic 11819 rs61751362 X:153296399-153296399 X:154030948-154030948 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) SNV Pathogenic/Likely pathogenic 11814 rs28934907 X:153297719-153297719 X:154032268-154032268 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) SNV Pathogenic/Likely pathogenic 11811 rs28934906 X:153296806-153296806 X:154031355-154031355 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.876del (p.Ala293fs) deletion Pathogenic/Likely pathogenic 547514 rs1557136332 X:153296439-153296439 X:154030988-154030988 RTT002 Rett Syndrome RHOBTB2 NM_001160036.2(RHOBTB2):c.1531C>T (p.Arg511Trp) SNV Pathogenic/Likely pathogenic 495261 rs1554504681 8:22865223-22865223 8:23007710-23007710 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1123_1124insC (p.Lys375fs) insertion Likely pathogenic 495247 rs1557135929 X:153296191-153296192 X:154030740-154030741 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1130_1174del (p.Glu377_Pro391del) deletion Likely pathogenic 393486 rs1064792899 X:153296141-153296185 X:154030690-154030734 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.890del (p.Lys297fs) deletion Likely pathogenic 547515 rs267608531 X:153296425-153296425 X:154030974-154030974 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.487G>T (p.Asp163Tyr) SNV Likely pathogenic 444834 rs1557137042 X:153296828-153296828 X:154031377-154031377 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.504C>A (p.Asp168Glu) SNV Likely pathogenic 393489 rs61748408 X:153296811-153296811 X:154031360-154031360 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.764_767del (p.Thr255fs) deletion Likely pathogenic 633297 rs1569548428 X:153296548-153296551 X:154031097-154031100 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.605G>A (p.Arg202His) SNV Likely pathogenic 548706 rs1557136818 X:153296710-153296710 X:154031259-154031259 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1200_1235delinsT (p.Pro401fs) indel Likely pathogenic 559934 rs1557135346 X:153296080-153296115 X:154030629-154030664 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.502G>T (p.Asp168Tyr) SNV Likely pathogenic 804127 X:153296813-153296813 X:154031362-154031362 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.553C>A (p.Pro185Thr) SNV Likely pathogenic 804125 X:153296762-153296762 X:154031311-154031311 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.610A>T (p.Lys204Ter) SNV Likely pathogenic 36493 rs193922679 X:153296705-153296705 X:154031254-154031254 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.5C>T (p.Ala2Val) SNV Likely pathogenic 11845 rs179363901 X:153363118-153363118 X:154097661-154097661 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs) deletion Likely pathogenic 143402 rs267608589 X:153296082-153296116 X:154030631-154030665 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs) deletion Likely pathogenic 143360 rs267608329 X:153296079-153296124 X:154030628-154030673 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.2376+5G>A SNV Likely pathogenic 156082 rs267608657 X:18638091-18638091 X:18619971-18619971 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.368G>A (p.Arg123Lys) SNV Likely pathogenic 374353 rs1057518718 X:153297703-153297703 X:154032252-154032252 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1A>G (p.Met1Val) SNV Likely pathogenic 189764 rs587783132 X:153363122-153363122 X:154097665-154097665 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.2046+1G>A SNV Likely pathogenic 189568 rs786204976 X:18627033-18627033 X:18608913-18608913 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.656A>C (p.Gln219Pro) SNV Likely pathogenic 189549 rs786204963 X:18606175-18606175 X:18588055-18588055 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.6_8CGC[8] (p.Ala7_Ala8dup) short repeat Conflicting interpretations of pathogenicity 189763 rs398123566 X:153363099-153363100 X:154097642-154097643 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.33_35AGG[7] (p.Gly15_Gly16dup) short repeat Conflicting interpretations of pathogenicity 189768 rs587783744 X:153363075-153363076 X:154097618-154097619 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.686C>T (p.Pro229Leu) SNV Conflicting interpretations of pathogenicity 236302 rs878853312 X:153296629-153296629 X:154031178-154031178 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.604C>T (p.Arg202Cys) SNV Conflicting interpretations of pathogenicity 156667 rs587783137 X:153296711-153296711 X:154031260-154031260 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser) SNV Conflicting interpretations of pathogenicity 156634 rs140258520 X:153296024-153296024 X:154030573-154030573 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1134_1136CCA[1] (p.His383_His384del) short repeat Conflicting interpretations of pathogenicity 156614 rs61752381 X:153296173-153296178 X:154030722-154030727 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs) deletion Conflicting interpretations of pathogenicity 156615 rs1557135353 X:153296081-153296150 X:154030630-154030699 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.380A>G (p.His127Arg) SNV Conflicting interpretations of pathogenicity 143818 rs267608468 X:18598065-18598065 X:18579945-18579945 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.895G>C (p.Ala299Pro) SNV Conflicting interpretations of pathogenicity 143716 rs61750257 X:153296420-153296420 X:154030969-154030969 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) SNV Conflicting interpretations of pathogenicity 143603 rs61748420 X:153296780-153296780 X:154031329-154031329 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser) SNV Conflicting interpretations of pathogenicity 143393 rs61753000 X:153296117-153296117 X:154030666-154030666 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu) SNV Conflicting interpretations of pathogenicity 143438 rs61753016 X:153296065-153296065 X:154030614-154030614 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1174G>A (p.Val392Met) SNV Conflicting interpretations of pathogenicity 143344 rs267608572 X:153296141-153296141 X:154030690-154030690 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly) SNV Conflicting interpretations of pathogenicity 143578 rs61748403 X:153296827-153296827 X:154031376-154031376 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) SNV Conflicting interpretations of pathogenicity 143579 rs61748404 X:153296824-153296824 X:154031373-154031373 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.968C>T (p.Thr323Met) SNV Conflicting interpretations of pathogenicity 36496 rs61751445 X:153296347-153296347 X:154030896-154030896 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.*14G>A SNV Conflicting interpretations of pathogenicity 95182 rs199963992 X:153295804-153295804 X:154030353-154030353 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser) SNV Conflicting interpretations of pathogenicity 95184 rs61752387 X:153296153-153296153 X:154030702-154030702 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.414-3C>T SNV Conflicting interpretations of pathogenicity 522665 rs267608465 X:153296904-153296904 X:154031453-154031453 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) SNV Conflicting interpretations of pathogenicity 11809 rs28934904 X:153296882-153296882 X:154031431-154031431 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) SNV Conflicting interpretations of pathogenicity 11844 rs179363900 X:153296825-153296825 X:154031374-154031374 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1198C>A (p.Pro400Thr) SNV Uncertain significance 813745 X:153296117-153296117 X:154030666-154030666 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1191_1244del (p.Leu398_Pro415del) deletion Uncertain significance 393484 rs1557135259 X:153296071-153296124 X:154030620-154030673 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1184T>C (p.Leu395Pro) SNV Uncertain significance 393487 rs1060499622 X:153296131-153296131 X:154030680-154030680 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.991G>A (p.Val331Met) SNV Uncertain significance 625979 rs1569548388 X:153296324-153296324 X:154030873-154030873 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.934G>A (p.Val312Ile) SNV Uncertain significance 36494 rs61751370 X:153296381-153296381 X:154030930-154030930 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.945C>G (p.Ile315Met) SNV Uncertain significance 36495 rs61751439 X:153296370-153296370 X:154030919-154030919 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.936_944del (p.Leu313_Ile315del) deletion Uncertain significance 143731 rs267608545 X:153296371-153296379 X:154030920-154030928 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.940C>A (p.Pro314Thr) SNV Uncertain significance 143733 rs61751373 X:153296375-153296375 X:154030924-154030924 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.949A>G (p.Lys317Glu) SNV Uncertain significance 143744 rs267608551 X:153296366-153296366 X:154030915-154030915 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.313C>T (p.Pro105Ser) SNV Uncertain significance 143515 rs61754447 X:153297758-153297758 X:154032307-154032307 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.359T>A (p.Leu120His) SNV Uncertain significance 143536 rs61754458 X:153297712-153297712 X:154032261-154032261 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1477G>A (p.Val493Met) SNV Uncertain significance 36492 rs193922678 X:153295838-153295838 X:154030387-154030387 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1134_1136CCA[2] (p.His384del) short repeat Uncertain significance 143331 rs61752381 X:153296173-153296175 X:154030722-154030724 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1051T>C (p.Cys351Arg) SNV Uncertain significance 143306 rs267608560 X:153296264-153296264 X:154030813-154030813 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.1-?dup duplication Uncertain significance 143301 X:154021812-154092209 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.*92C>G SNV Uncertain significance 143294 rs62621672 X:153295726-153295726 X:154030275-154030275 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.-15C>T SNV Uncertain significance 143299 rs267608324 X:153357682-153357682 X:154092224-154092224 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.*122del deletion Uncertain significance 143250 rs267608342 X:153295696-153295696 X:154030245-154030245 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.946A>G (p.Lys316Glu) SNV Uncertain significance 143742 rs61751440 X:153296369-153296369 X:154030918-154030918 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1200_1208del (p.Pro401_Pro403del) deletion Uncertain significance 143404 rs267608604 X:153296107-153296115 X:154030656-154030664 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.507C>G (p.Phe169Leu) SNV Uncertain significance 143589 rs267608484 X:153296808-153296808 X:154031357-154031357 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.367A>G (p.Arg123Gly) SNV Uncertain significance 143538 rs61754459 X:153297704-153297704 X:154032253-154032253 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.449T>C (p.Leu150Ser) SNV Uncertain significance 143567 rs267608475 X:153296866-153296866 X:154031415-154031415 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.499T>A (p.Phe167Ile) SNV Uncertain significance 143580 rs61748406 X:153296816-153296816 X:154031365-154031365 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.500T>G (p.Phe167Cys) SNV Uncertain significance 143581 rs28934905 X:153296815-153296815 X:154031364-154031364 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.503A>C (p.Asp168Ala) SNV Uncertain significance 143582 rs61748407 X:153296812-153296812 X:154031361-154031361 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.503A>G (p.Asp168Gly) SNV Uncertain significance 143583 rs61748407 X:153296812-153296812 X:154031361-154031361 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.505T>A (p.Phe169Ile) SNV Uncertain significance 143585 rs61748410 X:153296810-153296810 X:154031359-154031359 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.434G>T (p.Arg145Leu) SNV Uncertain significance 143560 rs61748389 X:153296881-153296881 X:154031430-154031430 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.436T>C (p.Ser146Pro) SNV Uncertain significance 143561 rs267608471 X:153296879-153296879 X:154031428-154031428 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.458A>G (p.Tyr153Cys) SNV Uncertain significance 143569 rs61748395 X:153296857-153296857 X:154031406-154031406 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.665A>T (p.Lys222Ile) SNV Uncertain significance 143642 rs61749730 X:153296650-153296650 X:154031199-154031199 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.671_691del (p.Val224_Lys231delinsGlu) deletion Uncertain significance 143645 rs267608509 X:153296624-153296644 X:154031173-154031193 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala) SNV Uncertain significance 143608 rs61748427 X:153296762-153296762 X:154031311-154031311 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.554C>G (p.Pro185Arg) SNV Uncertain significance 143609 rs267608492 X:153296761-153296761 X:154031310-154031310 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.517G>T (p.Gly173Trp) SNV Uncertain significance 143596 rs61748416 X:153296798-153296798 X:154031347-154031347 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.518G>A (p.Gly173Glu) SNV Uncertain significance 143597 rs61748417 X:153296797-153296797 X:154031346-154031346 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.518G>T (p.Gly173Val) SNV Uncertain significance 143598 rs61748417 X:153296797-153296797 X:154031346-154031346 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.419A>C (p.Gln140Pro) SNV Uncertain significance 143554 rs61748383 X:153296896-153296896 X:154031445-154031445 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.422G>T (p.Gly141Val) SNV Uncertain significance 143555 rs61748384 X:153296893-153296893 X:154031442-154031442 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.428C>A (p.Ala143Asp) SNV Uncertain significance 143556 rs267608470 X:153296887-153296887 X:154031436-154031436 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.433C>G (p.Arg145Gly) SNV Uncertain significance 143558 rs28934904 X:153296882-153296882 X:154031431-154031431 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.408G>C (p.Leu136Phe) SNV Uncertain significance 143549 rs61755763 X:153297663-153297663 X:154032212-154032212 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.408G>T (p.Leu136Phe) SNV Uncertain significance 143550 rs61755763 X:153297663-153297663 X:154032212-154032212 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.394T>G (p.Tyr132Asp) SNV Uncertain significance 143543 rs267608454 X:153297677-153297677 X:154032226-154032226 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.353G>T (p.Arg118Leu) SNV Uncertain significance 143535 rs61754457 X:153297718-153297718 X:154032267-154032267 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.377G>C (p.Gly126Ala) SNV Uncertain significance 143540 rs61755760 X:153297694-153297694 X:154032243-154032243 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.352C>G (p.Arg118Gly) SNV Uncertain significance 143533 rs28934907 X:153297719-153297719 X:154032268-154032268 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.344G>A (p.Gly115Asp) SNV Uncertain significance 143528 rs267608450 X:153297727-153297727 X:154032276-154032276 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.346T>C (p.Trp116Arg) SNV Uncertain significance 143529 rs267608451 X:153297725-153297725 X:154032274-154032274 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.335T>G (p.Leu112Arg) SNV Uncertain significance 143523 rs61754451 X:153297736-153297736 X:154032285-154032285 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.327C>A (p.Asp109Glu) SNV Uncertain significance 143520 rs61754449 X:153297744-153297744 X:154032293-154032293 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.325G>T (p.Asp109Tyr) SNV Uncertain significance 143517 rs61754448 X:153297746-153297746 X:154032295-154032295 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.64G>C (p.Glu22Gln) SNV Uncertain significance 143518 rs61754421 X:153298007-153298007 X:154032556-154032556 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.293C>G (p.Ser98Cys) SNV Uncertain significance 143510 rs61754445 X:153297778-153297778 X:154032327-154032327 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1265G>A (p.Ser422Asn) SNV Uncertain significance 143443 rs267608616 X:153296050-153296050 X:154030599-154030599 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1200_1244del (p.Pro401_Pro415del) deletion Uncertain significance 143407 rs267608605 X:153296071-153296115 X:154030620-154030664 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.260C>T (p.Pro87Leu) SNV Uncertain significance 143504 rs267608440 X:153297811-153297811 X:154032360-154032360 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1497A>C (p.Ter499Cys) SNV Uncertain significance 143489 rs267608642 X:153295818-153295818 X:154030367-154030367 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1439_1444del (p.Arg480_Pro481del) deletion Uncertain significance 143472 rs267608632 X:153295871-153295876 X:154030420-154030425 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1376C>T (p.Ala459Val) SNV Uncertain significance 143466 rs61753978 X:153295939-153295939 X:154030488-154030488 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1198_1227del (p.Pro400_Glu409del) deletion Uncertain significance 143397 rs63749034 X:153296088-153296117 X:154030637-154030666 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1187_1219del (p.Pro396_Ser407delinsArg) deletion Uncertain significance 143350 rs267608575 X:153296096-153296128 X:154030645-154030677 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1196_1216del (p.Pro399_Glu406delinsGln) deletion Uncertain significance 143385 rs267608594 X:153296099-153296119 X:154030648-154030668 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1192_1233del (p.Leu398_Pro411del) deletion Uncertain significance 143363 rs267608579 X:153296082-153296123 X:154030631-154030672 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1192_1236del (p.Leu398_Thr412del) deletion Uncertain significance 143364 rs267608581 X:153296079-153296123 X:154030628-154030672 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1169C>G (p.Ala390Gly) SNV Uncertain significance 143340 rs201314910 X:153296146-153296146 X:154030695-154030695 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1084_1131del (p.Ser362_Glu377del) deletion Uncertain significance 143312 rs267608562 X:153296184-153296231 X:154030733-154030780 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.872C>T (p.Ala291Val) SNV Uncertain significance 143710 rs61750249 X:153296443-153296443 X:154030992-154030992 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.907T>G (p.Ser303Ala) SNV Uncertain significance 143721 rs61751360 X:153296408-153296408 X:154030957-154030957 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.940C>G (p.Pro314Ala) SNV Uncertain significance 143734 rs61751373 X:153296375-153296375 X:154030924-154030924 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.941C>A (p.Pro314His) SNV Uncertain significance 143736 rs61749723 X:153296374-153296374 X:154030923-154030923 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.989A>C (p.Glu330Ala) SNV Uncertain significance 143752 rs61751448 X:153296326-153296326 X:154030875-154030875 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1000C>G (p.Pro334Ala) SNV Uncertain significance 143753 rs61751449 X:153296315-153296315 X:154030864-154030864 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1018C>G (p.Leu340Val) SNV Uncertain significance 143756 rs267608556 X:153296297-153296297 X:154030846-154030846 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.944T>G (p.Ile315Ser) SNV Uncertain significance 143741 rs267608549 X:153296371-153296371 X:154030920-154030920 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.950A>G (p.Lys317Arg) SNV Uncertain significance 143745 rs61751441 X:153296365-153296365 X:154030914-154030914 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) SNV Uncertain significance 143700 rs61750239 X:153296477-153296477 X:154031026-154031026 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.1196A>C (p.Asn399Thr) SNV Uncertain significance 143770 rs267608611 X:18622240-18622240 X:18604120-18604120 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.377+2T>G SNV Uncertain significance 156058 rs267608458 X:153297656-153297656 X:154032205-154032205 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.378-14G>A SNV Uncertain significance 156062 rs267608467 X:153296915-153296915 X:154031464-154031464 RTT002 Rett Syndrome CDKL5 NM_003159.2(CDKL5):c.2908C>T (p.Arg970Ter) SNV Uncertain significance 143812 rs267608665 X:18668640-18668640 X:18650520-18650520 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.27-8C>G SNV Uncertain significance 156049 rs267608410 X:153298016-153298016 X:154032565-154032565 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.27-9A>G SNV Uncertain significance 156050 rs267608413 X:153298017-153298017 X:154032566-154032566 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.(?_631)_(657_?)dup (p.(?)) duplication Uncertain significance 189761 X:153296622-153296648 X:154031171-154031197 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser) SNV Uncertain significance 188500 rs786204313 X:153296266-153296266 X:154030815-154030815 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln) SNV Uncertain significance 156636 rs145790362 X:153295846-153295846 X:154030395-154030395 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1199_1252del (p.Pro400_Pro417del) deletion Uncertain significance 189755 rs1557135234 X:153296063-153296116 X:154030612-154030665 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.(?_-226)_-99+?del deletion Uncertain significance 189759 X:153363061-153363188 X:154097604-154097731 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.(?_1)_26+?dup duplication Uncertain significance 189741 X:153357642-153357667 X:154092184-154092209 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.1165_1233del69ins21 (p.?) indel Uncertain significance 189756 X:153296046-153296114 X:154030595-154030663 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1129_1131del (p.Glu377del) deletion Uncertain significance 189746 rs786205032 X:153296184-153296186 X:154030733-154030735 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.1159_1160ins300 (p.?) insertion Uncertain significance 189752 X:153296119-153296120 X:154030668-154030669 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1191_1202del (p.Leu398_Pro401del) deletion Uncertain significance 189751 rs782174572 X:153296113-153296124 X:154030662-154030673 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1079_1209delinsTG (p.Glu360_Pro403delinsVal) indel Uncertain significance 189743 rs1557135603 X:153296106-153296236 X:154030655-154030785 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1189_1224del (p.Pro397_Ser408del) deletion Uncertain significance 189750 rs786205033 X:153296091-153296126 X:154030640-154030675 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1159_1227del (p.Ser387_Glu409del) deletion Uncertain significance 189749 rs1557135441 X:153296088-153296156 X:154030637-154030705 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1196_1236delinsAGGGGTGG (p.Pro399_Thr412delinsGlnGlyTrp) indel Uncertain significance 189753 rs267608343 X:153296079-153296119 X:154030628-154030668 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1153_1239del (p.Ser385_Ser413del) deletion Uncertain significance 189748 rs1557135279 X:153296076-153296162 X:154030625-154030711 RTT002 Rett Syndrome CDKL5 NM_003159.2(CDKL5):c.-440G>T SNV Uncertain significance 189604 rs777401314 X:18443538-18443538 X:18425418-18425418 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.-189C>T SNV Uncertain significance 189602 rs786204994 X:18443789-18443789 X:18425669-18425669 RTT002 Rett Syndrome CDKL5 NM_003159.2(CDKL5):c.2714-47C>T SNV Uncertain significance 189603 rs786204995 X:18664080-18664080 X:18645960-18645960 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.685C>T (p.Pro229Ser) SNV Uncertain significance 192293 rs786205894 X:153296630-153296630 X:154031179-154031179 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.714T>G (p.Phe238Leu) SNV Uncertain significance 236303 rs878853313 X:153296601-153296601 X:154031150-154031150 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1101C>A (p.Ser367Arg) SNV Uncertain significance 189745 rs267608563 X:153296214-153296214 X:154030763-154030763 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1097_1192del (p.Arg366_Pro397del) deletion Uncertain significance 189744 rs1557135746 X:153296123-153296218 X:154030672-154030767 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1066C>G (p.Arg356Gly) SNV Uncertain significance 189742 rs61752361 X:153296249-153296249 X:154030798-154030798 RTT002 Rett Syndrome CDKL5 NM_001323289.2(CDKL5):c.1266C>A (p.Asp422Glu) SNV Uncertain significance 189601 rs762708691 X:18622310-18622310 X:18604190-18604190 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.868G>A (p.Ala290Thr) SNV Likely benign 189629 rs782086416 X:153296447-153296447 X:154030996-154030996 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.378-42A>G SNV Likely benign 192291 rs786205893 X:153296943-153296943 X:154031492-154031492 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.378-6C>G SNV Likely benign 236301 rs782482746 X:153296907-153296907 X:154031456-154031456 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.*98dup duplication Likely benign 143297 rs267608341 X:153295719-153295720 X:154030268-154030269 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1066C>T (p.Arg356Trp) SNV Likely benign 143309 rs61752361 X:153296249-153296249 X:154030798-154030798 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.62+5469A>T SNV Likely benign 804130 X:153357593-153357593 X:154092135-154092135 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1134C>T (p.His378=) SNV Likely benign 548124 rs1557135898 X:153296181-153296181 X:154030730-154030730 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.898G>A (p.Val300Met) SNV Likely benign 547516 rs782455664 X:153296417-153296417 X:154030966-154030966 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1108G>A (p.Ala370Thr) SNV Benign/Likely benign 36489 rs147017239 X:153296207-153296207 X:154030756-154030756 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) SNV Benign/Likely benign 95187 rs56268439 X:153296090-153296090 X:154030639-154030639 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.813C>T (p.Ala271=) SNV Benign/Likely benign 95201 rs1042870 X:153296502-153296502 X:154031051-154031051 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) SNV Benign/Likely benign 95191 rs61753975 X:153295949-153295949 X:154030498-154030498 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) SNV Benign/Likely benign 138187 rs61749714 X:153296689-153296689 X:154031238-154031238 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) SNV Benign/Likely benign 138188 rs61748381 X:153296677-153296677 X:154031226-154031226 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1216G>A (p.Glu406Lys) SNV Benign/Likely benign 143421 rs63094662 X:153296099-153296099 X:154030648-154030648 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1198_1203CCACCT[1] (p.Pro402_Pro403del) short repeat Benign/Likely benign 143412 rs61753008 X:153296106-153296111 X:154030655-154030660 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1198C>G (p.Pro400Ala) SNV Benign/Likely benign 156632 rs61753000 X:153296117-153296117 X:154030666-154030666 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.378-17del deletion Benign/Likely benign 156063 rs61753982 X:153296918-153296918 X:154031467-154031467 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.377+28A>G SNV Benign 156057 rs185036026 X:153297630-153297630 X:154032179-154032179 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.855G>T (p.Gly285=) SNV Benign 143706 rs61750245 X:153296460-153296460 X:154031009-154031009 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) SNV Benign 143627 rs61749713 X:153296692-153296692 X:154031241-154031241 RTT002 Rett Syndrome MECP2 NM_004992.3(MECP2):c.378-20C>G SNV Benign 236300 rs368684221 X:153296921-153296921 X:154031470-154031470 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1199C>T (p.Pro400Leu) SNV Benign 143398 rs61753006 X:153296116-153296116 X:154030665-154030665 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1269C>T (p.Ser423=) SNV Benign 95189 rs3027928 X:153296046-153296046 X:154030595-154030595 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.1197C>T (p.Pro399=) SNV Benign 95186 rs61750246 X:153296118-153296118 X:154030667-154030667 RTT002 Rett Syndrome MECP2 NM_001110792.2(MECP2):c.62+5503del deletion Benign 804129 X:153357559-153357559 X:154092101-154092101 RTT002 Rett Syndrome