APC (NM_000038.5) | c.1620dupA, p.Gln541Thrfs*19 | Pathogenic | Ovary | - |
c.2977_2980delAAGT, p.K993Ffs*11 | Likely Pathogenic | Breast | Breast |
ATM (NM_000051.3) | c.875C > T, p.Pro292Leu | Likely Pathogenic | Ovary | - |
c.2086G > T, p.Gly696* | Likely Pathogenic | Eye | - |
c.3693_3697delATCTT, p.Leu1231Phefs*13 | Pathogenic | Ovary | - |
c.7519_7520delGA, p.Asp2507Argfs*8 | Likely Pathogenic | Colon | - |
c.8434_8435delTC, p.Ser2812Phefs*2 | Likely Pathogenic | Colon, Common bile duct | Stomach, Liver, Pancreas |
BRCA1 (NM_007294.3) | c.68_69delAG, p.Glu23Valfs*17 | Likely Pathogenic | Colon | |
c.213-12A > G | Pathogenic | Breast | Breast |
c.624_625ins(20), p.Pro209Argfs*32 | Pathogenic | Breast | Breast |
c.1265_1266dupAT, p.Ser423Ilefs*8 | Pathogenic | Ovary | Ovary, Lung |
c.1504_1508delTTAAA, p.Leu502Alafs*2 | Pathogenic | Breast | Breast, Ovary |
c.1889delA, p.Asn630Ilefs*2 | Pathogenic | Breast | Breast |
c.2101_2102delAA, p.Lys701Valfs*10 | Pathogenic | Breast | Breast |
c.3049G > T, p.Glu1017* | Pathogenic | Prostate | Stomach, Prostate, Pancreas, Thyroid |
c.3049G > T, p.Glu1017* | Pathogenic | Breast | |
c.3181delA, p.Ile1061* | Pathogenic | Ovary | Bladder |
c.3214delC, p.Leu1072* | Pathogenic | Breast | Pancreas, Ovary |
c.3403C > T, p.Gln1135* | Pathogenic | Breast, Ovary, Thyroid | Ovary |
c.3424delG, p.Ala1142Hisfs*13 | Pathogenic | Breast, Ovary | Breast |
c.3661G > T, p.Glu1221* | Pathogenic | Breast | Pancreas, Ovary, Unknown |
c.3748G > T, p.Glu1250* | Pathogenic | Breast | Breast, Ovary |
c.3748G > T, p.Glu1250* | Pathogenic | Breast | Breast |
c.3756_3759delGTCT, p.Ser1253Argfs*10 | Pathogenic | Breast, Ovary | Breast |
c.3770_3771delAG, p.Glu1257Glyfs*9 | Pathogenic | Ovary | Ovary |
c.3882_3885delCTTG, p.Leu1295Phefs*11 | Pathogenic | Breast, Ovary | Breast |
c.4327C > T, p.Arg1443* | Pathogenic | Breast | Breast, Ovary |
c.4327C > T, p.Arg1443* | Pathogenic | Breast | - |
c.4327C > T, p.Arg1443* | Pathogenic | Breast | - |
c.4484G > A, p.Arg1516Lys | Likely Pathogenic | Breast | Breast, Colon |
c.4523G > A, p.Trp1508* | Pathogenic | Breast, Ovary | Peritoneum |
c.4986 + 1G > T | Pathogenic | Ovary | Breast, Ovary |
c.5030_5033delCTAA, p.T1677Ifs*2 | Pathogenic | Breast | Breast |
c.5072C > A, p.Thr1691Lys | Likely Pathogenic | Lung | Pancreas, Breast, Ovary |
c.5072C > A, p.Thr1691Lys | Pathogenic | Breast | Breast |
c.5072C > A, p.Thr1691Lys | Pathogenic | Ovary | Breast |
c.5251C > T, p.Arg1751* | Pathogenic | Breast | - |
c.5511G > T, p.Trp1837Cys | Likely Pathogenic | Breast | - |
c.5511G > T, p.Trp1837Cys | Likely Pathogenic | Breast | - |
c.5511G > T, p.Trp1837Cys | Likely Pathogenic | Breast | - |
c.5574G > T, p.Trp1858Cys | Likely Pathogenic | Breast | Ovary |
c.5574G > T, p.Trp1858Cys | Likely Pathogenic | Breast | Breast |
c.5574G > T, p.Trp1858Cys | Likely Pathogenic | Breast | Breast |
c.5574G > T, p.Trp1858Cys | Likely Pathogenic | Breast | Breast |
BRCA2 (NM_000059.3) | c.18_19delAG, p.Arg8Alafs*5 | Pathogenic | Breast | - |
c.22_23delAG, p.Arg8Alafs*5 | Pathogenic | Breast | - |
c.22_23delAG, p.Arg8Alafs*5 | Pathogenic | Breast, Ovary | - |
c.22_23delAG, p.Arg8Alafs*5 | Pathogenic | Breast | Breast |
c.22_23delAG, p.Arg8Alafs*5 | Pathogenic | Pancreas | Breast |
c.157A > T, p.Lys53* | Pathogenic | Breast | Breast |
c.346delA, p.Ser116Valfs*5 | Pathogenic | Breast | Breast, Ovary, Prostate |
c.755_758delACAG, p.Asp252Valfs*24 | Pathogenic | Nasopharynx | Breast, Ovarian, Pancreas |
c.1399_1402delAAGA, p.Lys467Glufs*17 | Pathogenic | Breast | Breast |
c.1813delA, p.Ile605Tyrfs*9 | Pathogenic | Colon | Colon, Breast, HCC |
c.2327delA, p.Lys776Argfs*7 | Pathogenic | Ovary | - |
c.2372C > G, p.Ser791* | Pathogenic | Breast | - |
c.2808_2811delACAA, p.Ala938Profs*21 | Pathogenic | Breast | Male breast, Ovary |
c.3716_3717delAA, p.Lys1239Thrfs*3 | Pathogenic | Breast | Breast, Leukemia, Prostate |
c.3716_3717delAA, p.Lys1239Thrfs*3 | Pathogenic | Colon | Lung |
c.3847_3848delGT, p.Val1283Lysfs*2 | Pathogenic | Breast, Ovary | Peritoneum |
c.3865_3868delAAAT, p.Lys1289Alafs*3 | Pathogenic | Breast | Breast |
c.5645C > A, p.Ser1882* | Pathogenic | Breast, Thyroid | Prostate |
c.5645C > A, p.Ser1882* | Pathogenic | Breast | Breast |
c.6298_6299insA, p.Asn2101Lysfs*10 | Pathogenic | Breast | Breast, Endometrium, Pancreas |
c.6405_6409delCTTAA, p.Asn2135Lysfs*3 | Pathogenic | Breast | - |
C6486_6489delACAA, p.Lys2162Asnfs*5 | Pathogenic | Breast | Breast |
c.6532dupC, p.His2178Profs*11 | Pathogenic | Breast | Breast, Prostate, Colon |
c.6673delA, p.Thr2225Glnfs*4 | Pathogenic | Breast | Breast |
c.6777_6778delTG, p.N2259Kfs*33 | Pathogenic | Breast, Ovary | Colon, Endometrium |
c.6896delA, p.Asn2299Ilefs*6 | Pathogenic | Breast | - |
c.7185_7188delCTTG, p.His2395Glnfs*71 | Pathogenic | Breast | Breast |
c.7544_7545insA, p.Ser2516Ilefs*23 | Pathogenic | Breast | Unknown metastasis |
c.7558C > T, p.Arg2520* | Pathogenic | Pancreas | - |
c.7767delC, p.Ser2590Profs*58 | Pathogenic | Breast, Endometrium | Breast, Thyroid |
c.7767delC, p.Ser2590Profs*58 | Likely Pathogenic | Breast | - |
c.8837_8841delTGGAA, p.Leu2946Tyrfs*2 | Pathogenic | Prostate, Male breast, Esophagus | - |
c8854_8855insT, p.Met2952Ilefs*5 | Pathogenic | Breast | Breast, Colon, Ovary |
c.8890dupA, p.Arg2964Lysfs*54 | Pathogenic | Breast | - |
c.8890dupA, p.Arg2964Lysfs*54 | Pathogenic | Breast, Ovary | - |
c.8915delT, p.Leu2972Cysfs*4 | Pathogenic | Breast | Breast |
c.8953 + 1G > C | Likely Pathogenic | Breast, Ovary | Breast |
c.9154C > T, p.Arg3052Trp | Pathogenic | Breast | Breast, Ovary |
BRIP1 (NM_032043.2) | c.1343G > A, p.Trp448* | Pathogenic | Breast | - |
c.2431_2432dupCT, p.Pro812Tyrfs*15 | Likely Pathogenic | Breast | Breast |
CHEK2 (NM_007194.3) | c.1008 + 2T > A | Likely Pathogenic | Breast | - |
MLH1 (NM_000249.3) | c.790 + 1G > A | Pathogenic | Ovary, Endometrium | Breast, Endometrium |
MSH2 (NM_000251.2) | c.811_814delTCTG, p.Ser271Argfs*2 | Pathogenic | Breast | - |
c.1237C > T, p.Gln413* | Pathogenic | Ovary | Endometrium, Breast |
MUTYH (NM_001128425.1) | c.934-2A > G | Likely Pathogenic | Breast | - |
NBN (NM_002485.4) | c.89delA, p.Asn30Thrfs*5 | Likely Pathogenic | Breast | - |
PALB2 (NM_024675.3) | c.2968G > T, p.Glu990* | Pathogenic | Breast | Breast |
c.3267_3268delGT, p.Phe1090Serfs*6 | Pathogenic | Ovary | Lung |
c.3426_3429delAAGT, p.Leu1142Phefs*20 | Pathogenic | Breast | Breast |
PMS2 (NM_000535.6) | c.325dupG, p.Glu109Glyfs*30 | Pathogenic | Ovary | - |
706-1G > T | Pathogenic | Breast | Breast |
RAD51C | c.905-2A > C | Likely Pathogenic | Breast | Breast |
RAD51D (NM_002878.3) | c.270_271dupTA, p.Lys91Ilefs*13 | Pathogenic | Ovary | - |
c.270_271dupTA, p.Lys91Ilefs*13 | Pathogenic | Breast | Male Breast |
RECQL (NM_002907.3) | c.796C > T, p.Gln266* | Pathogenic | Breast, Ovary | Breast |
c.796C > T, p.Gln266* | Pathogenic | Breast | Ovary |
c.1217-2A > C | Likely Pathogenic | Breast, Ovary | - |
TP53 (NM_000546.5) | c.96 + 1 G > A | Pathogenic | Breast, Brain | Breast, Lung |
c.1024C > T, p.Arg342* | Pathogenic | Breast | - |