Table 1.
List of the 147 New Variants Identified in This Study
| Genetic Class | Gene | RefSeq | Exon/Intron | Nucleotide Change | Amino Acid Change | Allele State | dbSNP rs | VARS-OME |
|---|---|---|---|---|---|---|---|---|
| USH | ADGRV1 | NM_032119 | ex20 | c.3746T>G | p.(Leu1249*) | HET | rs775348911 | P |
| USH | ADGRV1 | NM_032119 | ex21 | c.4523delA | p.(His1508Profs*38) | HET | Not available | P |
| USH | ADGRV1 | NM_032119 | ex28 | c.5954del | p.(Asn1985Thrfs*17) | HOM | Not available | P |
| USH | ADGRV1 | NM_032119 | ex37 | c.8401G>T | p.(Gly2801*) | HET | Not available | P |
| USH | ADGRV1 | NM_032119 | int57 | c.11940+2T>A | p.(?) | HET | Not available | P |
| USH | ADGRV1 | NM_032119 | ex80 | c.17406_17412del | p.(Gln5803Glyfs*3) | HET | Not available | P |
| AR-RP | C2orf71 | NM_001029883 | ex1 | c.8G>A | p.(Cys3Tyr) | HOM | rs1420546201 | VUS |
| USH | CDH23 | NM_022124 | ex41 | c.5280del | p.(Arg1762Glufs*32) | HET | Not available | P |
| USH | CDH23 | NM_022124 | ex43 | c.5584G>A | p.(Glu1862Lys) | HET | rs773004408 | LP |
| USH | CDH23 | NM_022124 | ex50 | c.6831del | p.(Lys2278Serfs*2) | HET | rs1200012430 | P |
| AR-RP | CEP290 | NM_025114 | ex4 | c.223A>G | p.(Lys75Glu) | HET | rs779010679 | LP |
| AR-RP | CEP290 | NM_025114 | int23 | c.2368-1G>A | p.(?) | HET | Not available | P |
| AR-RP | CERKL | NM_201548 | ex2 | c.334C>T | p.(Gln112*) | HET | rs772748858 | P |
| AR-RP | CERKL | NM_201548 | ex11 | c.1297_1298del | p.(Ile433Cysfs*29) | HET | Not available | P |
| AR-RP | CNGA1 | NM_000087 | int8 | c.450-2A>G | p.(?) | HOM | Not available | P |
| AR-RP | CNGB1 | NM_001297 | ex7 | c.451G>C | p.(Asp151His) | HET | rs761126116 | VUS |
| AR-RP | CNGB1 | NM_001297 | ex11 | c.827_834del | p.(Ile276Thrfs*4) | HET | Not available | P |
| AR-RP | CNGB1 | NM_001297 | ex16 | c.1333G>T | p.(Glu445*) | HET | Not available | P |
| AR-RP | CNGB1 | NM_001297 | ex20 | c.1949C>T | p.(Pro650Leu) | HOM | rs780961773 | VUS |
| AR-RP | CNGB1 | NM_001297 | int21 | c.1957+2T>G | p.(?) | HET | rs755398007 | P |
| AR-RP | CNGB1 | NM_001297 | ex23 | c.2296T>C | p.(Cys766Arg) | HOM | rs773682702 | VUS |
| AR-RP | CNGB1 | NM_001297 | ex26 | c.2629G>A | p.(Gly877Arg) | HET | rs200963831 | VUS |
| AR-RP | CRB1 | NM_201253 | ex5 | c.1155T>G | p.(Cys385Trp) | HOM | Not available | LP |
| AR-RP | CRB1 | NM_201253 | ex6 | c.1445_1453del | p.(Ile482_Thr484del) | HET | rs780580887 | LP |
| AR-RP | CRB1 | NM_201253 | ex7 | c.2305C>T | p.(Arg769Cys) | HET | rs746307301 | LP |
| AR-RP | CRB1 | NM_201253 | ex7 | c.2405C>T | p.(Pro802Leu) | HET | rs1558132026 | LP |
| AR-RP | CRB1 | NM_201253 | ex7 | c.2676G>C | p.(Lys892Asn) | HET | Not available | LP |
| AR-RP | CRB1 | NM_201253 | ex8 | c.2816_2817delinsAA | p.(Cys939*) | HET | Not available | P |
| AR-RP | CRB1 | NM_201253 | ex9 | c.3548C>A | p.(Ser1183*) | HET | Not available | P |
| AR-RP | CRB1 | NM_201253 | ex11 | c.3961T>G | p.(Cys1321Gly) | HET | rs62635649 | LP |
| AR-RP | EYS | NM_001142800 | ex10 | c.1561_1562insTATA | p.(Asn521Ilefs*10) | HOM | Not available | LP |
| AR-RP | EYS | NM_001142800 | ex11 | c.1688_1689del | p.(Tyr563Serfs*6) | HET | Not available | LP |
| AR-RP | EYS | NM_001142800 | ex20 | c.3131A>G | p.(Asn1044Ser) | HET | rs985352881 | VUS |
| AR-RP | EYS | NM_001142800 | int21 | c.3164+1G>A | p.(?) | HET | rs1029564423 | P |
| AR-RP | EYS | NM_001142800 | int22 | c.3443+5G>A | p.(?) | HOM | Not available | VUS |
| AR-RP | EYS | NM_001142800 | ex29 | c.6047G>A | p.(Gly2016Asp) | HET | rs886061672 | VUS |
| AR-RP | EYS | NM_001142800 | ex30 | c.6124G>T | p.(Glu2042*) | HET | Not available | P |
| AR-RP | EYS | NM_001142800 | ex30 | c.6152del | p.(Pro2051Hisfs*5) | HET | Not available | P |
| AR-RP | EYS | NM_001142800 | ex34-35 | c.(6725+28_6834+2)_(6907_7197)dup | p.(?) | HET | Not available | LP |
| AR-RP | EYS | NM_001142800 | ex36 | c.7138T>C | p.(Cys2380Arg) | HET | rs1344785031 | VUS |
| AR-RP | EYS | NM_001142800 | ex41 | c.7943del | p.(Thr2648Lysfs*34) | HOM | rs1477705832 | P |
| AR-RP | EYS | NM_001142800 | ex42 | c.8159T>C | p.(Ile2720Thr) | HET | rs756985941 | LP |
| AR-RP | EYS | NM_001142800 | ex42 | c.8168del | p.(Gln2723Argfs*18) | HET | rs1168101857 | P |
| AR-RP | EYS | NM_001142800 | ex42 | c.8204A>G | p.(Tyr2735Cys) | HET | Not available | VUS |
| AR-RP | EYS | NM_001142800 | ex43 | c.8545C>T | p.(Arg2849*) | HET | rs1326635278 | P |
| AR-RP | EYS | NM_001142800 | ex43 | c.8569G>T | p.(Glu2857*) | HET | Not available | P |
| AR-RP | EYS | NM_001142800 | ex43 | c.9337_9350del | p.(Lys3113Phefs*8) | HET | Not available | P |
| AR-RP | EYS | NM_001142800 | ex43 | c.9392G>A | p.(Gly3131Glu) | HOM | Not available | VUS |
| AR-RP | HGSNAT | NM_152419 | ex7 | c.743+1del | p.(?) | HET | Not available | P |
| AR-RP | IFT140 | NM_014714 | ex3 | c.142G>A | p.(Glu48Lys) | HOM | rs984306756 | VUS |
| AD-RP | IMPDH1 | NM_001142574 | ex7 | c.674A>C | p.(Asn225Thr) | HET | Not available | VUS |
| AR-RP | IMPG2 | NM_016247 | ex13 | c.2143del | p.(Tyr715Thrfs*10 | HOM | Not available | LP |
| AR-RP | IQCB1 | NM_001023570 | ex8 | c.658_659delinsG | p.(Ser220Glufs*7) | HOM | Not available | P |
| AR-RP | KLHL7 | NM_001031710 | ex1 | c.112C>T | p.(Arg38Trp) | HET | Not available | LP |
| AR-RP | KLHL7 | NM_001031710 | ex5 | c.614A>G | p.(Asp205Gly) | HET | Not available | LP |
| AR-RP | MAK | NM_001242957 | int1 | c.101+1G>T | p.(?) | HET | Not available | P |
| AR-RP | MAK | NM_001242957 | ex11 | c.1519dup | p.(His507Profs*32) | HET | rs748216114 | P |
| AR-RP | MERTK | NM_006343 | ex4 | c.679G>T | p.(Val227Phe) | HET | Not available | VUS |
| AR-RP | MERTK | NM_006343 | ex6 | c.861_866del | p.(Thr288_Glu289del) | HET | Not available | LP |
| AR-RP | MERTK | NM_006343 | ex7 | c.1048C>T | p.(Gln350*) | HOM | Not available | P |
| AR-RP | MERTK | NM_006343 | ex7 | c.1075_1076del | p.(Val359Phefs*5) | HOM | Not available | P |
| USH | MYO7A | NM_000260 | ex13 | c.1448_1451del | p.(Asp483Glyfs*15) | HET | Not available | P |
| USH | MYO7A | NM_000260 | int13 | c.1554+5del | p.(?) | HET | Not available | VUS |
| USH | MYO7A | NM_000260 | ex16 | c.1834_1836del | p.(Ser612del) | HET | Not available | LP |
| USH | MYO7A | NM_000260 | ex24 | c.3070C>T | p.(Gln1024*) | HOM | Not available | P |
| USH | MYO7A | NM_000260 | ex30 | c.3906del | p.(Tyr1302*) | HET | Not available | P |
| USH | MYO7A | NM_000260 | ex37 | c.5168G>A | p.(Arg1723Lys) | HET | Not available | P |
| USH | MYO7A | NM_000260 | int43 | c.5945-4G>T | p.(?) | HET | Not available | VUS |
| XL-RP | OFD1 | NM_003611 | ex8 | c.736C>T | p.(Gln246*) | HEM | Not available | P |
| USH | PCDH15 | NM_033056 | ex4 | c.308T>G | p.(Leu103Arg) | HET | Not available | LP |
| USH | PCDH15 | NM_033056 | ex6 | c.556C>T | p.(Gln186*) | HET | rs1384677442 | P |
| USH | PCDH15 | NM_033056 | ex33 | c.5287_5292del | p.(Ala1763_Pro1764del) | HOM | rs397517465 | VUS |
| AR-RP | PDE6A | NM_000440 | ex17 | c.2100_2122del | p.(Tyr700*) | HET | Not available | P |
| AR-RP | PDE6A | NM_000440 | ex20 | c.2277delC | p.(Met760*) | HET | Not available | P |
| AR-RP* | PDE6A | NM_000440 | int20 | c.2358+1G>A | p.(?) | HET | rs1333137167 | P |
| AR-RP | PDE6B | NM_000283 | ex2 | c.616G>T | p.(Glu206*) | HET | Not available | P |
| AR-RP | PDE6B | NM_000283 | ex4 | c.760G>A | p.(Glu254Lys) | HET | rs146204075 | LP |
| AR-RP | PDE6B | NM_000283 | int11 | c.1467+4del | p.(?) | HET | Not available | VUS |
| AR-RP | PDE6B | NM_000283 | ex12 | c.1532G>T | p.(Cys511Phe) | HET | Not available | VUS |
| AR-RP | PDE6B | NM_000283 | int18 | c.2193+1G>C | p.(?) | HOM | Not available | P |
| AR-RP | POMGNT1 | NM_017739 | ex17 | c.1415T>C | p.(Leu472Pro) | HET | Not available | LP |
| AD-RP | PRPF31 | NM_015629 | ex7 | c.549del | p.(Glu183Aspfs*15) | HET | Not available | P |
| AD-RP | PRPF31 | NM_015629 | ex7 | c.551_552 insCCGGAGCT | p.(Glu185Argfs*16) | HET | Not available | P |
| AD-RP | PRPF31 | NM_015629 | ex10 | c.992G>A | p.(Trp331*) | HET | rs1555794205 | P |
| AD-RP | PRPF31 | NM_015629 | ex12 | c.1205C>A | p.(Ser402*) | HET | Not available | P |
| AD-RP | PRPF31 | NM_015629 | ex13 | c.1307G>A | p.(Gly436Asp) | HET | rs746117107 | VUS |
| AD-RP | PRPF4 | NM_004697 | ex12 | c.1241A>G | p.(Asn414Ser) | HET | rs775720412 | VUS |
| AD-RP | PRPF6 | NM_012469.3 | ex10 | c.1300G>A | p.(Val434Met) | HET | rs753357562 | VUS |
| AD-RP | PRPF8 | NM_006445 | ex15 | c.2111A>C | p.(Asn704Thr) | HET | Not available | VUS |
| AD-RP | PRPF8 | NM_006445 | ex32 | c.5070C>G | p.(Asp1690Glu) | HET | Not available | LP |
| AD-RP | PRPF8 | NM_006445 | ex43 | c.6910T>G | p.(Phe2304Val) | HET | Not available | LP |
| AD-RP | PRPF8 | NM_006445 | ex43 | c.6994G>T | p.(Asp2332Tyr) | HET | Not available | LP |
| AD-RP | PRPF8 | NM_006445 | ex43 | c.6994_7001 delinsTTTACTC | p.(Asp2332Phefs*27) | HET | Not available | P |
| AD-RP | PRPF8 | NM_006445 | ex43 | c.7007G>C | p.(*2336Serext*41) | HET | Not available | LP |
| AD-RP | PRPH2 | NM_000322 | ex1 | c.535T>G | p.(Trp179Gly) | HET | Not available | LP |
| AD-RP | PRPH2 | NM_000322 | ex2 | c.643A>C | p.(Asn215His) | HET | Not available | LP |
| AR-RP | RBP4 | NM_006744 | ex5 | c.457_459del | p.(Phe153del) | HOM | rs1490873010 | LP |
| AR-RP | RDH12 | NM_152443 | ex8 | c.667G>T | p.(Val223Phe) | HOM | rs370015375 | LP |
| AD-RP | RDH12 | NM_152443 | ex8 | c.680_684delinsT | p.(Ala227Valfs*50) | HET | P | |
| AD-RP | RHO | NM_000539 | ex3 | c.559T>A | p.(Cys187Ser) | HET | Not available | P |
| AD-RP | RHO | NM_000539 | ex4 | c.907_911delinsGC | p.(Pro303_Val304delinsAla) | HET | Not available | LP |
| AD-RP | RHO | NM_000539 | ex5 | c.1032G>C | p.(Gln344His) | HET | rs749753555 | LP |
| AR-RP | RLBP1 | NM_000326 | int3 | c.(13-2)_(13-1)delinsCC | p.(?) | HET | Not available | P |
| AR-RP | RP1 | NM_006269 | Int3 | c.788-1G>C | p.(?) | HOM | Not available | P |
| AR-RP | RP1 | NM_006269 | ex4 | c.1234dup | p.(Met412Asnfs*7) | HET | rs760283610 | P |
| AR-RP | RP1 | NM_006269 | ex4 | c.1720_1721del | p.(Ser574Asnfs*8) | HET | Not available | P |
| AD-RP | RP1 | NM_006269 | ex4 | c.2447dup | p.(Asn816Lysfs*9) | HET | Not available | P |
| XL-RP | RP2 | NM_006915 | int1 | c.103-2del | p.(?) | HEM | Not available | P |
| XL-RP | RP2 | NM_006915 | exon3 | c.(768+?)_(884-?)del | p.(?) | HEM | Not available | LP |
| AD-RP | RP9 | NM_203288 | ex5 | c.436C>T | p.(Arg146*) | HET | rs1426378506 | P |
| AR-RP | RPE65 | NM_000329 | ex10 | c.1112C>T | p.(Pro371Leu) | HET | rs770760551 | LP |
| XL-RP | RPGR | NM_001034853 | ex2 | c.101_102insA | p.(Asn34Lysfs*2) | HET | Not available | P |
| XL-RP | RPGR | NM_001034853 | Int3 | c.248-1G>C | p.(?) | HEM | Not available | P |
| XL-RP | RPGR | NM_001034853 | ex4 | c.299T>C | p.(Leu100Pro) | HEM | rs1064797366 | VUS |
| XL-RP | RPGR | NM_001034853 | ex7 | c.739delinsAA | p.(Gln247Lysfs*36) | HEM | Not available | P |
| XL-RP | RPGR | NM_001034853 | ex7 | c.752G>T | p.(Gly251Val) | HEM | Not available | LP |
| XL-RP | RPGR | NM_001034853 | ex12 | c.1473_1477del | p.(Glu491Aspfs*6) | HEM | Not available | P |
| XL-RP | RPGR | NM_001034853 | ex15 | c.2340_2371dup | p.(Gly791Glufs*35) | HEM | Not available | P |
| AD-RP | SNRNP200 | NM_014014 | ex11 | c.1376A>T | p.(Glu459Val) | HET | Not available | LP |
| AR-RP | TULP1 | NM_003322 | ex5 | c.450_451insCT | p.(Ser151Leufs*6) | HET | Not available | LP |
| AR-RP | TULP1 | NM_003322 | ex11 | c.1063G>A | p.(Asp355Asn) | HET | rs1085307806 | LP |
| USH | USH1C | NM_005709 | ex4 | c.348_373del | p.(His116Glnfs*24) | HOM | Not available | P |
| USH* | USH2A | NM_206933 | ex2 | c.194del | p.(Thr65Ilefs*80) | HET | Not available | P |
| USH | USH2A | NM_206933 | ex5 | c.(785-?)_(1840+?)del | p.(?) | HET | Not available | P |
| USH | USH2A | NM_206933 | ex5-10 | c.(784+?)_(1841-?)del | p.(?) | HOM | Not available | P |
| AR-RP | USH2A | NM_206933 | int8 | c.1551-5T>G | p.(?) | HET | rs770011395 | VUS |
| AR-RP | USH2A | NM_206933 | ex9 | c.1571C>A | p.(Ala524Asp) | HET | rs772624410 | LP |
| AR-RP | USH2A | NM_206933 | ex11 | c.1891G>C | p.(Asp631His) | HET | rs552400144 | LP |
| AR-RP | USH2A | NM_206933 | ex12 | c.1991G>T | p.(Cys664Phe) | HET | Not available | LP |
| USH | USH2A | NM_206933 | ex13 | c.2435C>T | p.(Thr812Ile) | HET | rs768560709 | LP |
| USH | USH2A | NM_206933 | ex14 | c.2953T>C | p.(Cys985Arg) | HET | rs1171264735 | LP |
| AR-RP* | USH2A | NM_206933 | ex17 | c.3332T>G | p.(Leu1111*) | HET | Not available | LP |
| AR-RP | USH2A | NM_206933 | ex23 | c.4862T>A | p.(Ile1621Asn) | HET | Not available | LP |
| USH | USH2A | NM_206933 | ex27 | c.5438_5443del | p.(Ser1813_Ser1 815delinsCys) | HET | rs752992414 | LP |
| AR-RP* | USH2A | NM_206933 | ex27 | c.5330G>A | p.(Arg1777Gln) | HET | rs541275063 | LP |
| USH | USH2A | NM_206933 | int31 | c.6164-3C>G | p.(?) | HET | rs755593389 | VUS |
| USH | USH2A | NM_206933 | ex32 | c.6317_6318del | p.(Ile2106Serfs*51) | HET | Not available | P |
| AR-RP | USH2A | NM_206933 | ex36 | c.6929C>T | p.(Thr2310Met) | HET | rs151057466 | LP |
| USH | USH2A | NM_206933 | ex41 | c.7939C>T | p.(Pro2647Ser)† | HET | Not available | VUS |
| AR-RP | USH2A | NM_206933 | ex42 | c.8395G>C | p.(Gly2799Arg) | HOM | Not available | LP |
| AR-RP | USH2A | NM_206933 | ex48 | c.9433_9437delins AGGAGATCATATCCATTCCATAGGA | p.(Leu3145Argfs*22) | HET | Not available | P |
| AR-RP | USH2A | NM_206933 | ex53 | c.10429T>C | p.(Ser3477Pro) | HET | Not available | LP |
| USH | USH2A | NM_206933 | ex56 | c.10975dup | p.(Thr3659Asnfs*24) | HET | Not available | P |
| AR-RP | USH2A | NM_206933 | ex60 | c.11660G>C | p.(Trp3887Ser) | HET | Not available | LP |
| AR-RP | USH2A | NM_206933 | ex63 | c.12358C>T | p.(Arg4120Cys) | HET | rs727503718 | LP |
| USH | USH2A | NM_206933 | ex68 | c.14815del | p.(Ser4939Argfs*11) | HET | Not available | P |
| USH | USH2A | NM_206933 | ex71 | c.15373C>T | p.(Arg5125Cys) | HET | rs771243585 | VUS |
All variants were classified for pathogenicity according to American College of Medical Genetics and Genomics guidelines. ex, exon; int, intron; HEM, hemizygous; HET, heterozygous; HOM, homozygous; rs, dbSNP accession number.
*Recurrent variant.
†Probably in haplotype with the known LP variant p.(Pro4735Arg).