Table 1.
Pathogenic and likely pathogenic variants identified across 97 cancer predisposition genes in 479 patients
| Variant | Gene | Classification | Disorder | ACMG/AMP Attributes (Golden Helix) | Inheritance | Classification Source | Effect (Combined) | HGVS c. | HGVS p. | Total Samples in Cohort | % of Samples in Cohort | Homozygous Samples in Cohort | Heterozygous Samples in Cohort |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1-161328481-C-T | SDHC | Likely pathogenic | Pheochromocytoma/paraganglioma syndrome 3 | Attributes: PM2, PM1, PP2, PP3 | Autosomal Dominant | Golden Helix | Missense | NM_003001.5:c.163 C > T | NP_002992.1:p.His55Tyr | 2 | 0.42 | 0 | 2 |
| chr2-47466656-A-C | MSH2 | Pathogenic | Colorectal cancer hereditary nonpolyposis type 1 | Attributes: PM2, PVS1, PP5 | Autosomal Dominant | Golden Helix | LoF | NM_000251.3:c.1511–2 A > C | 1 | 0.21 | 0 | 1 | |
| chr2-47466797-AT-A | MSH2 | Pathogenic | Hereditary_nonpolyposis_colorectal_neoplasms | - | Autosomal Dominant | ClinVar | LoF | NM_000251.3:c.1653delT | NP_000242.1:p.Phe551Leufs*6 | 1 | 0.21 | 0 | 1 |
| chr2-47476378-G-T | MSH2 | Pathogenic | Hereditary_cancer-predisposing_syndrome | - | Autosomal Dominant | ClinVar | LoF | NM_000251.3:c.2017G > T | NP_000242.1:p.Gly673Ter | 1 | 0.21 | 0 | 1 |
| chr2-47799596-ATCT-A | MSH6 | Likely pathogenic | Colorectal cancer hereditary nonpolyposis type 5 | Attributes: PM2, PM4, PP3, PP5, PM5 | Autosomal Dominant | Golden Helix | Missense | NM_000179.3:c.1618_1620delCTT | NP_000170.1:p.Leu540del | 1 | 0.21 | 0 | 1 |
| chr2-47806651-G-T | MSH6 | Likely_pathogenic | Lynch_syndrome_5 | - | Autosomal Dominant | ClinVar | Missense | NM_000179.3:c.4001G > T | NP_000170.1:p.Arg1334Leu | 1 | 0.21 | 0 | 1 |
| chr2-214745855-C-A | BARD1 | Pathogenic/Likely_pathogenic | Hereditary_cancer-predisposing_syndrome | - | Autosomal Dominant | ClinVar | LoF | NM_000465.4:c.1678-1G > T | 1 | 0.21 | 0 | 1 | |
| chr2-214769255-C-CT | BARD1 | Pathogenic | Familial_cancer_of_breast | - | Autosomal Dominant | ClinVar | LoF | NM_000465.4:c.1371dupA | NP_000456.2:p.Asp458Argfs*10 | 1 | 0.21 | 0 | 1 |
| chr3-12584539-G-A | RAF1 | Likely pathogenic | Noonan syndrome 5 | Attributes: PM2, PP2, PP3, PS1 | Autosomal Dominant | Golden Helix | Missense | NM_002880.4:c.1922 C > T | NP_002871.1:p.Thr641Met | 1 | 0.21 | 0 | 1 |
| chr3-36993650-A-G | MLH1 | Pathogenic | Colorectal cancer hereditary nonpolyposis type 2 | Attributes: PM2, PM1, PP2, PP3, PS1, PM5 | Autosomal Dominant | Golden Helix | Missense | NM_000249.4:c.103 A > G | NP_000240.1:p.Met35Val | 1 | 0.21 | 0 | 1 |
| chr3-36996626-G-T | MLH1 | Likely pathogenic | Colorectal cancer hereditary nonpolyposis type 2 | Attributes: PM2, PM1, PP2, PP3 | Autosomal Dominant | Golden Helix | Missense | NM_000249.4:c.124G > T | NP_000240.1:p.Ala42Ser | 1 | 0.21 | 0 | 1 |
| chr3-37001037-A-G | MLH1 | Likely pathogenic | Colorectal cancer hereditary nonpolyposis type 2 | Attributes: PM2, PM1, PP2, PP3 | Autosomal Dominant | Golden Helix | LoF | NM_000249.4:c.290 A > G | NP_000240.1:p.Tyr97Cys | 7 | 1.46 | 0 | 7 |
| chr3-37008813-G-T | MLH1 | Likely_pathogenic | Lynch_syndrome|Hereditary_cancer-predisposing_syndrome | - | Autosomal Dominant | ClinVar | LoF | NM_000249.4:c.454-1G > T | 1 | 0.21 | 0 | 1 | |
| chr3-37014544-C-T | MLH1 | Likely pathogenic | Colorectal cancer hereditary nonpolyposis type 2 | Attributes: PM2, PM1, PP2, PP3 | Autosomal Dominant | Golden Helix | Missense | NM_000249.4:c.790 C > T | NP_000240.1:p.His264Tyr | 1 | 0.21 | 0 | 1 |
| chr3-37025635-A-T | MLH1 | Likely_pathogenic | Hereditary_cancer-predisposing_syndrome|Lynch_syndrome | - | Autosomal Dominant | ClinVar | LoF | NM_000249.4:c.1039–2 A > T | 1 | 0.21 | 0 | 1 | |
| chr3-37047557-A-C | MLH1 | Likely pathogenic | Colorectal cancer hereditary nonpolyposis type 2 | Attributes: PM2, PM1, PP2, PP3 | Autosomal Dominant | Golden Helix | Missense | NM_000249.4:c.1770 A > C | NP_000240.1:p.Leu590Phe | 1 | 0.21 | 0 | 1 |
| chr3-37048952-T-G | MLH1 | Likely pathogenic | Colorectal cancer hereditary nonpolyposis type 2 | Attributes: PM2, PM1, PP2, PP3, PM5 | Autosomal Dominant | Golden Helix | Missense | NM_000249.4:c.2038T > G | NP_000240.1:p.Cys680Gly | 4 | 0.84 | 0 | 4 |
| chr3-52408603-AGGGCTG-A | BAP1 | Likely pathogenic | Tumor predisposition syndrome 1 | Attributes: PM2, PVS1 | Autosomal Dominant | Golden Helix | LoF | NM_004656.4:c.123-3_125delCAGCCC | NP_004647.1:p.? | 1 | 0.21 | 0 | 1 |
| chr5-228183-A-T | SDHA | Likely_pathogenic | Hereditary_cancer-predisposing_syndrome | - | Autosomal Dominant | ClinVar | LoF | NM_004168.4:c.622–2 A > T | 1 | 0.21 | 0 | 1 | |
| chr5-236581-G-T | SDHA | Pathogenic | Hereditary_cancer-predisposing_syndrome | - | Autosomal Dominant | ClinVar | LoF | NM_004168.4:c.1414G > T | NP_004159.2:p.Glu472Ter | 1 | 0.21 | 0 | 1 |
| chr5-254392-G-T | SDHA | Pathogenic/Likely_pathogenic | Hereditary_cancer-predisposing_syndrome | - | Autosomal Dominant | ClinVar | LoF | NM_004168.4:c.1795-1G > T | 1 | 0.21 | 0 | 1 | |
| chr5-112767391-GTA-G | APC | Likely_pathogenic | Familial_adenomatous_polyposis_1 | - | Autosomal Dominant | ClinVar | LoF | NM_000038.6:c.422 + 2_422 + 3delTA | 2 | 0.42 | 0 | 2 | |
| chr5-112827175-CT-C | APC | Pathogenic | Familial_adenomatous_polyposis_1 | - | Autosomal Dominant | ClinVar | LoF | NM_000038.6:c.1477delT | NP_000029.2:p.Tyr493Thrfs*5 | 1 | 0.21 | 0 | 1 |
| chr6-35452658-AG-A | FANCE | Pathogenic/Likely_pathogenic | Fanconi_anemia_complementation_group_E | - | Autosomal Recessive | ClinVar | LoF | NM_021922.3:c.118delG | NP_068741.1:p.Ala40Argfs*44 | 1 | 0.21 | 1 | 0 |
| chr7-6009009-G-C | PMS2 | Likely pathogenic | Lynch syndrome 4 | Attributes: PM2, PS1 | Autosomal Dominant | Golden Helix | Missense | NM_000535.7:c.11 C > G | NP_000526.2:p.Ala4Gly | 1 | 0.21 | 0 | 1 |
| chr7-140834827-CTCTTTGTTGG-C | BRAF | Likely pathogenic | Noonan syndrome 7 | Attributes: PM2, PVS1 | Autosomal Dominant | Golden Helix | LoF | NM_004333.6:c.276_285delCCAACAAAGA | NP_004324.2:p.Gln93Asnfs*86 | 1 | 0.21 | 0 | 1 |
| chr9-21970951-G-GC | CDKN2A | Likely pathogenic | Melanoma-pancreatic cancer syndrome | Attributes: PM2, PVS1_Strong | Autosomal Dominant | Golden Helix | LoF | NM_000077.5:c.407dupG | NP_000068.1:p.Thr137Hisfs*5 | 1 | 0.21 | 0 | 1 |
| chr10-43100718-CCG-C | RET | Likely pathogenic | Retinoblastoma | Attributes: PM2, PVS1 | Autosomal Dominant | Golden Helix | LoF | NM_020975.6:c.335_336delGC | NP_066124.1:p.Arg112Glnfs*22 | 1 | 0.21 | 0 | 1 |
| chr10-86890064-C-T | BMPR1A | Pathogenic | Juvenile_polyposis_syndrome | - | Autosomal Dominant | ClinVar | LoF | NM_004329.3:c.70 C > T | NP_004320.2:p.Gln24Ter | 1 | 0.21 | 0 | 1 |
| chr10-86919324-G-T | BMPR1A | Likely_pathogenic | Hereditary_cancer-predisposing_syndrome | - | Autosomal Dominant | ClinVar | Missense | NM_004329.3:c.1021G > T | NP_004320.2:p.Gly341Cys | 1 | 0.21 | 0 | 1 |
| chr10-86919360-C-T | BMPR1A | Pathogenic | Juvenile_polyposis_syndrome | - | Autosomal Dominant | ClinVar | LoF | NM_004329.3:c.1057 C > T | NP_004320.2:p.Gln353Ter | 1 | 0.21 | 0 | 1 |
| chr10-87952234-TC-T | PTEN | Pathogenic | Cowden_syndrome_1 | - | Autosomal Dominant | ClinVar | LoF | NM_000314.8:c.611delC | NP_000305.3:p.Pro204Glnfs*17 | 1 | 0.21 | 0 | 1 |
| chr10-87960893-G-T | PTEN | Pathogenic | Cowden_syndrome_1 | - | Autosomal Dominant | ClinVar | LoF | NM_000314.8:c.802-1G > T | 1 | 0.21 | 0 | 1 | |
| chr11-532524-T-G | HRAS | Likely pathogenic | Costello syndrome | Attributes: PM2, PVS1, BP6 | Autosomal Dominant | Golden Helix | LoF | NM_005343.4:c.*6–2 A > C | 1 | 0.21 | 0 | 1 | |
| chr11-64805126-T-C | MEN1 | Likely pathogenic | Multiple endocrine neoplasia 1 | Attributes: PM2, PM1, PP2, PP3, PM5 | Autosomal Dominant | Golden Helix | Missense | NM_130799.3:c.1258 A > G | NP_570711.2:p.Ile420Val | 1 | 0.21 | 0 | 1 |
| chr11-64806286-C-T | MEN1 | Likely pathogenic | Multiple endocrine neoplasia 1 | Attributes: PM2, PM1, PP2, PP3 | Autosomal Dominant | Golden Helix | Missense | NM_130799.3:c.995G > A | NP_570711.2:p.Arg332His | 1 | 0.21 | 0 | 1 |
| chr11-108289762-G-C | ATM | Pathogenic | Breast cancer susceptibility to | Attributes: PM2, PM1, PP2, PP3, PS1 | Autosomal Dominant | Golden Helix | Missense | NM_000051.4:c.4397G > C | NP_000042.3:p.Arg1466Pro | 1 | 0.21 | 0 | 1 |
| chr11-108294927-G-T | ATM | Pathogenic | Familial_cancer_of_breast | - | Autosomal Dominant | ClinVar | LoF | NM_000051.4:c.4777G > T | NP_000042.3:p.Glu1593Ter | 1 | 0.21 | 0 | 1 |
| chr11-108299873-TG-T | ATM | Pathogenic | Familial_cancer_of_breast | - | Autosomal Dominant | ClinVar | LoF | NM_000051.4:c.5167delG | NP_000042.3:p.Val1723Ter | 1 | 0.21 | 0 | 1 |
| chr11-108301790-G-A | ATM | Likely_pathogenic | Familial_cancer_of_breast | - | Autosomal Dominant | ClinVar | LoF | NM_000051.4:c.5319 + 1G > A | 1 | 0.21 | 0 | 1 | |
| chr11-108316016-G-A | ATM | Likely pathogenic | Breast cancer susceptibility to | Attributes: BS2, PM2, PM1, PP2, PP3 | Autosomal Dominant | Golden Helix | Missense | NM_000051.4:c.6101G > A | NP_000042.3:p.Arg2034Gln, | 1 | 0.21 | 0 | 1 |
| chr11-108326124-C-T | ATM | Pathogenic | Familial_cancer_of_breast | - | Autosomal Dominant | ClinVar | LoF | NM_000051.4:c.6874 C > T | NP_000042.3:p.Gln2292Ter, | 1 | 0.21 | 0 | 1 |
| chr11-108329198-G-T | ATM | Pathogenic | Familial_cancer_of_breast | - | Autosomal Dominant | ClinVar | LoF | NM_000051.4:c.7267G > T | NP_000042.3:p.Glu2423Ter, | 1 | 0.21 | 0 | 1 |
| chr11-119278287-C-T | CBL | Likely pathogenic | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Attributes: PM2, PM1, PP2, PP3 | Autosomal Dominant | Golden Helix | Missense | NM_005188.4:c.1217 C > T | NP_005179.2:p.Thr406Ile | 1 | 0.21 | 0 | 1 |
| chr11-119278514-C-T | CBL | Likely pathogenic | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Attributes: PM2, PM1, PP2, PP3 | Autosomal Dominant | Golden Helix | Missense | NM_005188.4:c.1232 C > T | NP_005179.2:p.Ser411Leu | 1 | 0.21 | 0 | 1 |
| chr12-25245350-C-A | KRAS | Pathogenic | Noonan syndrome 3 | - | Autosomal Dominant | ClinVar | Missense | NM_004985.5:c.35G > T | NP_004976.2:p.Gly12Val | 1 | 0.21 | 0 | 1 |
| chr13-32316508-GAC-G | BRCA2 | Pathogenic | Breast-ovarian_cancer, _familial, _susceptibility_to, _2 | - | Autosomal Dominant | ClinVar | LoF | NM_000059.4:c.51_52delAC | NP_000050.3:p.Arg18Leufs*12 | 1 | 0.21 | 0 | 1 |
| chr13-32333010-C-A | BRCA2 | Pathogenic | Breast-ovarian_cancer, _familial, _susceptibility_to, _2 | - | Autosomal Dominant | ClinVar | LoF | NM_000059.4:c.1532 C > A | NP_000050.3:p.Ser511Ter | 1 | 0.21 | 0 | 1 |
| chr13-32333292-T-TA | BRCA2 | Pathogenic | Breast-ovarian_cancer, _familial, _susceptibility_to, _2 | Attributes: PM2, PVS1, PP5 | Autosomal Dominant | Golden Helix | LoF | NM_000059.4:c.1815dupA | NP_000050.3:p.Pro606Thrfs*10 | 1 | 0.21 | 0 | 1 |
| chr13-32336794-TC-T | BRCA2 | Pathogenic | Breast-ovarian_cancer, _familial, _susceptibility_to, _2 | - | Autosomal Dominant | ClinVar | LoF | NM_000059.4:c.2442delC | NP_000050.3:p.Met815Trpfs*10 | 1 | 0.21 | 0 | 1 |
| chr13-32337273-C-A | BRCA2 | Pathogenic | Breast-ovarian_cancer, _familial, _susceptibility_to, _2 | - | Autosomal Dominant | ClinVar | LoF | NM_000059.4:c.2918 C > A | NP_000050.3:p.Ser973Ter | 2 | 0.42 | 0 | 2 |
| chr13-32337570-T-G | BRCA2 | Pathogenic | Breast-ovarian cancer familial 2 | Attributes: PM2, PVS1, PP5 | Autosomal Dominant | Golden Helix | LoF | NM_000059.4:c.3215T > G | NP_000050.3:p.Leu1072Ter | 1 | 0.21 | 0 | 1 |
| chr13-32337870-C-A | BRCA2 | Pathogenic | Breast-ovarian_cancer, _familial, _susceptibility_to, _2 | - | Autosomal Dominant | ClinVar | LoF | NM_000059.4:c.3515 C > A | NP_000050.3:p.Ser1172Ter | 1 | 0.21 | 0 | 1 |
| chr13-32337996-TG-T | BRCA2 | Likely pathogenic | Breast-ovarian cancer familial 2 | Attributes: PM2, PVS1 | Autosomal Dominant | Golden Helix | LoF | NM_000059.4:c.3645delG | NP_000050.3:p.Phe1216Leufs*12 | 1 | 0.21 | 0 | 1 |
| chr13-32338058-C-T | BRCA2 | Pathogenic/Likely_pathogenic | Breast-ovarian_cancer, _familial, _susceptibility_to, _2 | - | Autosomal Dominant | ClinVar | LoF | NM_000059.4:c.3703 C > T | NP_000050.3:p.Gln1235Ter | 1 | 0.21 | 0 | 1 |
| chr13-32338167-C-G | BRCA2 | Pathogenic | Breast-ovarian cancer familial 2 | Attributes: PM2, PVS1, PP5 | Autosomal Dominant | Golden Helix | LoF | NM_000059.4:c.3812 C > G | NP_000050.3:p.Ser1271Ter | 1 | 0.21 | 0 | 1 |
| chr13-32338886-G-T | BRCA2 | Pathogenic | Breast-ovarian_cancer, _familial, _susceptibility_to, _2 | - | Autosomal Dominant | ClinVar | LoF | NM_000059.4:c.4531G > T | NP_000050.3:p.Glu1511Ter | 1 | 0.21 | 0 | 1 |
| chr13-32339924-G-T | BRCA2 | Pathogenic | Breast-ovarian_cancer, _familial, _susceptibility_to, _2 | - | Autosomal Dominant | ClinVar | LoF | NM_000059.4:c.5569G > T | NP_000050.3:p.Glu1857Ter | 1 | 0.21 | 0 | 1 |
| chr13-32339932-T-TA | BRCA2 | Pathogenic | Breast-ovarian cancer familial 2 | Attributes: PM2, PVS1, PP5 | Autosomal Dominant | Golden Helix | LoF | NM_000059.4:c.5583dupA | NP_000050.3:p.Val1862Serfs*11 | 2 | 0.42 | 0 | 2 |
| chr13-32340089-G-T | BRCA2 | Pathogenic | Breast-ovarian_cancer, _familial, _susceptibility_to, _2 | - | Autosomal Dominant | ClinVar | LoF | NM_000059.4:c.5734G > T | NP_000050.3:p.Glu1912Ter | 1 | 0.21 | 0 | 1 |
| chr13-32340419-TCAGAC-T | BRCA2 | Pathogenic | Breast-ovarian cancer familial 2 | Attributes: PM2, PVS1, PP5 | Autosomal Dominant | Golden Helix | LoF | NM_000059.4:c.6068_6072delACCAG | NP_000050.3:p.Asp2023Alafs*24 | 1 | 0.21 | 0 | 1 |
| chr13-32362695-C-A | BRCA2 | Pathogenic | Breast-ovarian_cancer, _familial, _susceptibility_to, _2 | - | Autosomal Dominant | ClinVar | LoF | NM_000059.4:c.7976 + 2 C > A | 1 | 0.21 | 0 | 1 | |
| chr13-32379503-GA-G | BRCA2 | Pathogenic | Breast-ovarian_cancer, _familial, _susceptibility_to, _2 | - | Autosomal Dominant | ClinVar | LoF | NM_000059.4:c.8946delA | NP_000050.3:p.Asp2983Ilefs*5 | 1 | 0.21 | 0 | 1 |
| chr13-32394685-CTAGGA-C | BRCA2 | Pathogenic | Breast-ovarian cancer familial 2 | Attributes: PM2, PVS1, PP5 | Autosomal Dominant | Golden Helix | LoF | NM_000059.4:c.9257-3_9258delTAGGA | NP_000050.3:p.? | 1 | 0.21 | 0 | 1 |
| chr13-48412354-A-ACATG | RB1 | Pathogenic | Retinoblastoma | - | Autosomal Dominant | ClinVar | LoF | NM_001162498.3:c.66_69dupCATG | NP_001155970.1:p.Phe24Hisfs*29, | 5 | 1.04 | 0 | 5 |
| chr13-48459792-C-T | RB1 | Pathogenic | Retinoblastoma | - | Autosomal Dominant | ClinVar | LoF | NM_000321.3:c.2065 C > T | NP_000312.2:p.Gln689Ter | 1 | 0.21 | 0 | 1 |
| chr13-48464984-C-G | RB1 | Pathogenic | Retinoblastoma | - | Autosomal Dominant | ClinVar | Other | NM_000321.3:c.2212–14 C > G | 1 | 0.21 | 0 | 1 | |
| chr14-95124428-C-A | DICER1 | Pathogenic | Hereditary_cancer-predisposing_syndrome | - | Autosomal Dominant | ClinVar | LoF | NM_177438.3:c.1144G > T | NP_803187.1:p.Glu382Ter | 2 | 0.42 | 0 | 2 |
| chr16-23603500-C-A | PALB2 | Likely pathogenic | Breast-ovarian cancer, familial, susceptibility to, 5 | Attributes: PM2, PVS1_Strong | Autosomal Dominant | Golden Helix | LoF | NM_024675.4:c.3520G > T | NP_078951.2:p.Gly1174Ter | 1 | 0.21 | 0 | 1 |
| chr16-23629665-TC-T | PALB2 | Pathogenic | Breast-ovarian cancer, familial, susceptibility to, 5 | Attributes: PM2, PVS1, PP5 | Autosomal Dominant | Golden Helix | LoF | NM_024675.4:c.2488delG | NP_078951.2:p.Glu830Serfs*21 | 1 | 0.21 | 0 | 1 |
| chr16-23629980-G-C | PALB2 | Pathogenic | Breast-ovarian cancer, familial, susceptibility to, 5 | Attributes: PM2, PVS1, PP5 | Autosomal Dominant | Golden Helix | LoF | NM_024675.4:c.2174 C > G | NP_078951.2:p.Ser725Ter | 1 | 0.21 | 0 | 1 |
| chr16-23635536-A-T | PALB2 | Pathogenic | Breast-ovarian cancer, familial, susceptibility to, 5 | Attributes: PM2, PVS1, PP5 | Autosomal Dominant | Golden Helix | LoF | NM_024675.4:c.1010T > A | NP_078951.2:p.Leu337Ter | 1 | 0.21 | 0 | 1 |
| chr16-68810195-A-G | CDH1 | Pathogenic | Gastric_cancer | - | Autosomal Dominant | ClinVar | LoF | NM_004360.5:c.688–2 A > G | 1 | 0.21 | 0 | 1 | |
| chr17-7673788-G-A | TP53 | Pathogenic/Likely_pathogenic | Li-Fraumeni_syndrome | - | Autosomal Dominant | ClinVar | Missense | NM_000546.6:c.832 C > T | NP_000537.3:p.Pro278Ser | 1 | 0.21 | 0 | 1 |
| chr17-7673803-G-A | TP53 | Pathogenic/Likely_pathogenic | Li-Fraumeni_syndrome | - | Autosomal Dominant | ClinVar | Missense | NM_000546.6:c.817 C > T | NP_000537.3:p.Arg273Cys | 1 | 0.21 | 0 | 1 |
| chr17-7674947-A-G | TP53 | Pathogenic | Li-Fraumeni_syndrome | - | Autosomal Dominant | ClinVar | Missense | NM_000546.6:c.584T > C | NP_000537.3:p.Ile195Thr | 1 | 0.21 | 0 | 1 |
| chr17-7675070-C-T | TP53 | Likely pathogenic | Li-Fraumeni_syndrome | Attributes: PM2, PP2, PS1, PM5 | Autosomal Dominant | Golden Helix | Missense | NM_000546.6:c.542G > A | NP_000537.3:p.Arg181His | 1 | 0.21 | 0 | 1 |
| chr17-7675139-C-A | TP53 | Pathogenic/Likely_pathogenic | Li-Fraumeni_syndrome | - | Autosomal Dominant | ClinVar | Missense | NM_000546.6:c.473G > T | NP_000537.3:p.Arg158Leu | 1 | 0.21 | 0 | 1 |
| chr17-7675217-T-C | TP53 | Pathogenic/Likely_pathogenic | Li-Fraumeni_syndrome | - | Autosomal Dominant | ClinVar | Missense | NM_000546.6:c.395 A > G | NP_000537.3:p.Lys132Arg | 1 | 0.21 | 0 | 1 |
| chr17-7675237-C-A | TP53 | Pathogenic | Li-Fraumeni_syndrome | Attributes: PM2, PVS1, PP5 | Autosomal Dominant | Golden Helix | LoF | NM_000546.6:c.376-1G > T | 1 | 0.21 | 0 | 1 | |
| chr17-31095370-G-A | NF1 | Pathogenic | Neurofibromatosis, _type_1 | Attributes: PM2, PVS1, PP5 | Autosomal Dominant | Golden Helix | LoF | NM_000267.3:c.60 + 1G > A | 1 | 0.21 | 0 | 1 | |
| chr17-31169898-G-T | NF1 | Pathogenic | Neurofibromatosis, _type_1 | - | Autosomal Dominant | ClinVar | LoF | NM_000267.3:c.487G > T | NP_000258.1:p.Glu163Ter | 1 | 0.21 | 0 | 1 |
| chr17-31181717-G-A | NF1 | Pathogenic | Neurofibromatosis, _type_1 | - | Autosomal Dominant | ClinVar | LoF | NM_000267.3:c.662G > A | NP_000258.1:p.Trp221Ter | 1 | 0.21 | 0 | 1 |
| chr17-31226456-G-T | NF1 | Pathogenic | Neurofibromatosis, _type_1 | - | Autosomal Dominant | ClinVar | LoF | NM_000267.3:c.2023G > T | NP_000258.1:p.Gly675Ter | 1 | 0.21 | 0 | 1 |
| chr17-31233116-G-T | NF1 | Pathogenic/Likely_pathogenic | Neurofibromatosis, _type_1 | - | Autosomal Dominant | ClinVar | Missense | NM_000267.3:c.3611G > T | NP_000258.1:p.Arg1204Leu | 1 | 0.21 | 0 | 1 |
| chr17-31248982-A-G | NF1 | Pathogenic | Neurofibromatosis, _type_1 | Attributes: PM2, PVS1, PP5 | Autosomal Dominant | Golden Helix | LoF | NM_000267.3:c.3975–2 A > G | 1 | 0.21 | 0 | 1 | |
| chr17-31265242-G-T | NF1 | Pathogenic/Likely_pathogenic | Neurofibromatosis, _type_1 | - | Autosomal Dominant | ClinVar | LoF | NM_000267.3:c.4675G > T | NP_000258.1:p.Glu1559Ter | 1 | 0.21 | 0 | 1 |
| chr17-31265336-G-T | NF1 | Pathogenic | Neurofibromatosis, _type_1 | - | Autosomal Dominant | ClinVar | Missense | NM_000267.3:c.4769G > T | NP_000258.1:p.Arg1590Leu | 1 | 0.21 | 0 | 1 |
| chr17-31327839-G-T | NF1 | Pathogenic | Neurofibromatosis, _type_1 | - | Autosomal Dominant | ClinVar | Missense | NM_000267.3:c.5546G > T | NP_000258.1:p.Arg1849Leu | 1 | 0.21 | 0 | 1 |
| chr17-31330351-G-T | NF1 | Pathogenic | Neurofibromatosis, _type_1 | - | Autosomal Dominant | ClinVar | LoF | NM_000267.3:c.5602G > T | NP_000258.1:p.Glu1868Ter | 1 | 0.21 | 0 | 1 |
| chr17-31330456-TTAGAATTTTTGGAAG-T | NF1 | Likely pathogenic | Neurofibromatosis, _type_1 | Attributes: PM2, PVS1 | Autosomal Dominant | Golden Helix | LoF | NM_000267.3:c.5708_5722delTAGAATTTTTGGAAG | NP_000258.1:p.Leu1903Ter | 1 | 0.21 | 0 | 1 |
| chr17-31334843-G-T | NF1 | Pathogenic | Neurofibromatosis, _type_1 | - | Autosomal Dominant | ClinVar | LoF | NM_000267.3:c.5755G > T | NP_000258.1:p.Glu1919Ter | 1 | 0.21 | 0 | 1 |
| chr17-31358481-C-T | NF1 | Likely_pathogenic | Neurofibromatosis, _type_1 | - | Autosomal Dominant | ClinVar | Missense | NM_000267.3:c.7909 C > T | NP_000258.1:p.His2637Tyr | 1 | 0.21 | 0 | 1 |
| chr17-43045767-G-A | BRCA1 | Likely pathogenic | Breast-ovarian cancer familial 1 | Attributes: PM2, PVS1_Strong, PP5 | Autosomal Dominant | Golden Helix | LoF | NM_007294.4:c.5503 C > T | NP_009225.1:p.Arg1835Ter | 2 | 0.42 | 0 | 2 |
| chr17-43045803-C-T | BRCA1 | Likely pathogenic | Breast-ovarian cancer familial 1 | Attributes: PM2, PVS1_Strong, PP5 | Autosomal Dominant | Golden Helix | LoF | NM_007294.4:c.5468-1G > A | 1 | 0.21 | 0 | 1 | |
| chr17-43063930-C-T | BRCA1 | Pathogenic | Breast-ovarian cancer familial 1 | Attributes: PM2, PP2, PP3, PS1, PM5 | Autosomal Dominant | Golden Helix | Missense | NM_007294.4:c.5096G > A | NP_009225.1:p.Arg1699Gln | 1 | 0.21 | 0 | 1 |
| chr17-43067646-AG-A | BRCA1 | Pathogenic | Breast-ovarian cancer familial 1 | Attributes: PM2, PVS1, PP5 | Autosomal Dominant | Golden Helix | LoF | NM_007294.4:c.5035delC | NP_009225.1:p.Leu1679Ter | 1 | 0.21 | 0 | 1 |
| chr17-43076487-C-T | BRCA1 | Pathogenic | Breast-ovarian_cancer, _familial, _susceptibility_to, _1 | - | Autosomal Dominant | ClinVar | LoF | NM_007294.4:c.4484 + 1G > A | 1 | 0.21 | 0 | 1 | |
| chr17-43090962-ACT-A | BRCA1 | Pathogenic | Breast-ovarian cancer familial 1 | Attributes: PM2, PVS1, PP5 | Autosomal Dominant | Golden Helix | LoF | NM_007294.4:c.4165_4166delAG | NP_009225.1:p.Ser1389Ter | 1 | 0.21 | 0 | 1 |
| chr17-43092050-CCTTT-C | BRCA1 | Pathogenic | Breast-ovarian cancer familial 1 | Attributes: PM2, PVS1, PP5 | Autosomal Dominant | Golden Helix | LoF | NM_007294.4:c.3477_3480delAAAG | NP_009225.1:p.Ile1159Metfs*50 | 1 | 0.21 | 0 | 1 |
| chr17-43092698-TAC-T | BRCA1 | Likely pathogenic | Breast-ovarian cancer familial 1 | Attributes: PM2, PVS1 | Autosomal Dominant | Golden Helix | LoF | NM_007294.4:c.2831_2832delGT | NP_009225.1:p.Cys944Ter | 1 | 0.21 | 0 | 1 |
| chr17-43092792-ATTCT-A | BRCA1 | Pathogenic | Breast-ovarian cancer familial 1 | Attributes: PM2, PVS1, PP5 | Autosomal Dominant | Golden Helix | LoF | NM_007294.4:c.2735_2738delAGAA | NP_009225.1:p.Lys912Metfs*87 | 1 | 0.21 | 0 | 1 |
| chr17-43093742-C-A | BRCA1 | Pathogenic | Breast-ovarian_cancer, _familial, _susceptibility_to, _1 | - | Autosomal Dominant | ClinVar | LoF | NM_007294.4:c.1789G > T | NP_009225.1:p.Glu597Ter | 1 | 0.21 | 0 | 1 |
| chr17-43094342-CA-C | BRCA1 | Pathogenic | Breast-ovarian_cancer, _familial, _susceptibility_to, _1 | - | Autosomal Dominant | ClinVar | LoF | NM_007294.4:c.1188delT | NP_009225.1:p.Asp396Glufs*14 | 1 | 0.21 | 0 | 1 |
| chr17-43094381-C-A | BRCA1 | Pathogenic | Breast-ovarian_cancer, _familial, _susceptibility_to, _1 | - | Autosomal Dominant | ClinVar | LoF | NM_007294.4:c.1150G > T | NP_009225.1:p.Glu384Ter | 1 | 0.21 | 0 | 1 |
| chr17-43094522-C-A | BRCA1 | Pathogenic | Breast-ovarian_cancer, _familial, _susceptibility_to, _1 | - | Autosomal Dominant | ClinVar | LoF | NM_007294.4:c.1009G > T | NP_009225.1:p.Glu337Ter | 1 | 0.21 | 0 | 1 |
| chr17-43106528-C-CA | BRCA1 | Pathogenic | Breast-ovarian cancer familial 1 | Attributes: PM2, PVS1, PP5 | Autosomal Dominant | Golden Helix | LoF | NM_007294.4:c.139dupT | NP_009225.1:p.Cys47Leufs*19 | 1 | 0.21 | 0 | 1 |
| chr17-43124027-ACT-A | BRCA1 | Pathogenic | Breast-ovarian cancer familial 1 | Attributes: PM2, PVS1, PP5 | Autosomal Dominant | Golden Helix | LoF | NM_007294.4:c.68_69delAG | NP_009225.1:p.Glu23Valfs*17 | 5 | 1.04 | 0 | 5 |
| chr18-51067167-T-TA | SMAD4 | Pathogenic | Hereditary_cancer-predisposing_syndrome | - | Autosomal Dominant | ClinVar | LoF | NM_005359.6:c.1289dupA | NP_005350.1:p.Tyr430Ter | 1 | 0.21 | 0 | 1 |
| chr19-1207163-A-T | STK11 | Pathogenic | Peutz-Jeghers syndrome | Attributes: PM2, PVS1, PP5 | Autosomal Dominant | Golden Helix | LoF | NM_000455.5:c.250 A > T | NP_000446.1:p.Lys84Ter | 1 | 0.21 | 0 | 1 |
| chr22-23787210-C-A | SMARCB1 | Pathogenic/Likely_pathogenic | Hereditary_cancer-predisposing_syndrome | - | Autosomal Dominant | ClinVar | Missense | NM_003073.5:c.41 C > A | NP_003064.2:p.Pro14His | 1 | 0.21 | 0 | 1 |
| chr22-28695175-C-A | CHEK2 | Pathogenic | Familial_cancer_of_breast | - | Autosomal Dominant | ClinVar | LoF | NM_007194.4:c.1327G > T | NP_009125.1:p.Gly443Ter | 1 | 0.21 | 0 | 1 |
| chr22-28711914-C-A | CHEK2 | Pathogenic | Familial_cancer_of_breast | Attributes: PM2, PVS1, PP5 | Autosomal Dominant | Golden Helix | LoF | NM_007194.4:c.787G > T | NP_009125.1:p.Glu263Ter | 1 | 0.21 | 0 | 1 |
| chr22-28711986-C-T | CHEK2 | Likely pathogenic | Familial_cancer_of_breast | Attributes: PM2, PM1, PS1 | Autosomal Dominant | Golden Helix | Missense | NM_007194.4:c.715G > A | NP_009125.1:p.Glu239Lys | 1 | 0.21 | 0 | 1 |
| chr22-28725089-T-C | CHEK2 | Likely pathogenic | Familial_cancer_of_breast | Attributes: BS2, PM2, PM1, PM5 | Autosomal Dominant | Golden Helix | Missense | NM_007194.4:c.480 A > G | NP_009125.1:p.Ile160Met | 1 | 0.21 | 0 | 1 |