BRIP1 — 5823 ClinVar variants

All ClinVar germline BRIP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2959 flagged for review →

465 Pathogenic · 120 Pathogenic/Likely pathogenic · 163 Likely pathogenic · 415 Conflicting · 110 Benign · 468 Benign/Likely benign · 1015 Likely benign · 3067 Uncertain significance

Full BRIP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 2959

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

BRIP1 p.Gln169His Pathogenic/Likely pathogenic Multiple submitters
hereditary breast carcinoma
BRIP1 p.Leu594Val Likely pathogenic Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Ile243Val Likely pathogenic Single submitter
hereditary neoplastic syndrome

Predictors agree, ClinVar conflicts 197

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 197

BRIP1 p.Ala1030Val Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Ala1098Asp Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Ala1098Ser Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Ala1098Val Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Ala1159Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Ala1182Val Conflicting Single submitter
Fanconi anemia complementation group J
BRIP1 p.Ala1187Thr Conflicting Single submitter
Breast and/or ovarian cancer
BRIP1 p.Ala185Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Ala185Val Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Ala349Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Ala453Thr Conflicting Single submitter
familial ovarian cancer
BRIP1 p.Ala745Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Ala926Thr Conflicting Single submitter
Fanconi anemia complementation group J
BRIP1 p.Ala980Val Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Arg1035Cys Conflicting Single submitter
Breast and/or ovarian cancer
BRIP1 p.Arg1035His Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Arg106Cys Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Arg106His Conflicting Single submitter
Breast and/or ovarian cancer
BRIP1 p.Arg1154Gly Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Arg162Gln Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Arg162Leu Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Arg264Gln Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Arg823Gly Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Arg848His Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Asn101Lys Conflicting Single submitter
Fanconi anemia complementation group J
BRIP1 p.Asn1057Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Asn1087Lys Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Asn1087Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Asn109Asp Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Asn109Ser Conflicting Single submitter
BRIP1-related disorder
BRIP1 p.Asn1160Asp Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Asn119Lys Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Asn119Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Asn182His Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Asn196Lys Conflicting Single submitter
Hereditary cancer
BRIP1 p.Asn196Ser Conflicting Single submitter
Breast and/or ovarian cancer
BRIP1 p.Asn293Ser Conflicting Single submitter
familial ovarian cancer
BRIP1 p.Asn471Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Asn568Lys Conflicting Single submitter
Fanconi anemia complementation group J
BRIP1 p.Asn851Ser Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Asn905Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Asn955His Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Asn969Ser Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Asn98Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Asn994Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Asp1100Asn Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Asp1141Ala Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Asp1143Asn Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Asp1148Glu Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Asp149Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Asp184Asn Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Asp563Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Asp99Asn Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Asp99Glu Conflicting Single submitter
Fanconi anemia complementation group J
BRIP1 p.Cys443Tyr Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Cys87Ser Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Cys942Arg Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Gln102Arg Conflicting Single submitter
familial ovarian cancer
BRIP1 p.Gln1114Pro Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Gln227Glu Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Gln554Arg Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Gln903Lys Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Gln944Glu Conflicting Single submitter
Breast and/or ovarian cancer
BRIP1 p.Glu1022Lys Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Glu1027Ala Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Glu1027Lys Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Glu1110Lys Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Glu1111Gln Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Glu1126Asp Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Glu1202Gly Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Glu626Asp Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Gly1009Arg Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Gly1009Glu Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Gly1024Arg Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Gly1155Glu Conflicting Single submitter
familial ovarian cancer
BRIP1 p.Gly1211Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Gly1247Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Gly481Asp Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Gly859Arg Conflicting Single submitter
Fanconi anemia complementation group J
BRIP1 p.His1088Tyr Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.His1091Arg Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.His181Gln Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.His213Arg Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.His285Arg Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.His396Arg Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.His396Asp Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.His478Tyr Conflicting Single submitter
familial ovarian cancer
BRIP1 p.His587Arg Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.His587Leu Conflicting Single submitter
Fanconi anemia complementation group J
BRIP1 p.Ile1074Thr Conflicting Single submitter
Fanconi anemia complementation group J
BRIP1 p.Ile1079Met Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Ile1079Thr Conflicting Single submitter
Inherited ovarian cancer (without breast cancer)
BRIP1 p.Ile1191Thr Conflicting Single submitter
Fanconi anemia complementation group J
BRIP1 p.Ile1191Val Conflicting Single submitter
familial ovarian cancer
BRIP1 p.Ile1229Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Ile1231Met Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Ile146Val Conflicting Single submitter
Fanconi anemia complementation group J
BRIP1 p.Ile275Val Conflicting Single submitter
Breast and/or ovarian cancer
BRIP1 p.Ile359Met Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Ile365Val Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Ile562Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Ile562Val Conflicting Single submitter
familial ovarian cancer
BRIP1 p.Ile564Thr Conflicting Single submitter
Fanconi anemia complementation group J
BRIP1 p.Ile633Val Conflicting Single submitter
Fanconi anemia complementation group J
BRIP1 p.Ile651Val Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Ile896Val Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Ile902Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Ile952Val Conflicting Single submitter
familial ovarian cancer
BRIP1 p.Ile962Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Ile962Val Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Ile983Asn Conflicting Single submitter
familial ovarian cancer
BRIP1 p.Ile983Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Leu1093Phe Conflicting Single submitter
Fanconi anemia complementation group J
BRIP1 p.Leu1105Phe Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Leu1107Pro Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Leu1170Val Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Leu1221Val Conflicting Single submitter
Fanconi anemia complementation group J
BRIP1 p.Leu537His Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Leu958Gln Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Lys1052Glu Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Lys1113Glu Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Lys1177Gln Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Lys131Asn Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Lys209Arg Conflicting Single submitter
Fanconi anemia complementation group J
BRIP1 p.Lys242Arg Conflicting Single submitter
Fanconi anemia complementation group J
BRIP1 p.Lys297Arg Conflicting Single submitter
Breast and/or ovarian cancer
BRIP1 p.Lys797Arg Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Lys897Glu Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Lys968Glu Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Lys979Glu Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Lys998Asn Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Met100Thr Conflicting Single submitter
familial ovarian cancer
BRIP1 p.Met1041Thr Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Met1244Val Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Met331Ile Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Met4Val Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Phe1064Ser Conflicting Single submitter
Fanconi anemia complementation group J
BRIP1 p.Phe934Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Phe934Val Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Pro1017Leu Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Pro1033Ser Conflicting Single submitter
Fanconi anemia complementation group J
BRIP1 p.Pro1068Ser Conflicting Single submitter
Fanconi anemia complementation group J
BRIP1 p.Pro1092Gln Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Pro1092Leu Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Pro1101Leu Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Pro1246Leu Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Pro129Ser Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Pro163Ser Conflicting Single submitter
Fanconi anemia complementation group J
BRIP1 p.Pro210His Conflicting Single submitter
familial ovarian cancer
BRIP1 p.Pro210Ser Conflicting Single submitter
BRIP1-related disorder

Predicted LoF vs a conflicting call 36

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

BRIP1 c.206-1G>T Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 c.206-2A>G Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 c.2097+1G>C Conflicting Single submitter
hereditary breast carcinoma
BRIP1 c.2097+2T>A Conflicting Single submitter
hereditary breast carcinoma
BRIP1 c.2575+2dup Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 c.2905+2T>A Conflicting Single submitter
hereditary breast carcinoma
BRIP1 c.2906-1G>A Conflicting Single submitter
hereditary breast carcinoma
BRIP1 c.93+2dup Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Ala1081fs Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Asn1087fs Conflicting Single submitter
Fanconi anemia complementation group J
BRIP1 p.Asn1118fs Conflicting Single submitter
Fanconi anemia complementation group J
BRIP1 p.Glu1110Ter Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Glu1124fs Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Glu967fs Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Ile1079delinsThrLeuPheHisHisTer Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Ile983fs Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Leu1077Ter Conflicting Single submitter
Fanconi anemia complementation group J
BRIP1 p.Leu929fs Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Leu974fs Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Lys1078Ter Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Lys998fs Conflicting Single submitter
familial ovarian cancer
BRIP1 p.Met1fs Conflicting Single submitter
Fanconi anemia complementation group J
BRIP1 p.Met1Val Conflicting Single submitter
Genetic non-acquired premature ovarian failure
BRIP1 p.Pro1134fs Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Ser1025fs Conflicting Single submitter
hereditary breast ovarian cancer syndrome
BRIP1 p.Ser1043fs Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Ser1056Ter Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Ser1066fs Conflicting Single submitter
hereditary neoplastic syndrome
BRIP1 p.Ser1075fs Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Ser3Ter Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Ser988fs Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Thr997fs Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Trp1002fs Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Trp1002Ter Conflicting Single submitter
hereditary breast carcinoma
BRIP1 p.Tyr1131fs Conflicting Single submitter
familial ovarian cancer
BRIP1 p.Tyr8Ter Conflicting Single submitter
hereditary breast carcinoma

Predictors lean, ClinVar uncertain 1910

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 1910

BRIP1 p.Ala1019Thr Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Ala1019Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala1081Gly Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Ala1081Thr Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Ala1081Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala1125Gly Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Ala1150Gly Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Ala1150Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala1159Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala1159Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala1167Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala1182Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala1187Val Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Ala135Gly Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Ala135Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala135Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala136Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala140Thr Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Ala144Glu Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Ala21Asp Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Ala21Val Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Ala257Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala267Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala267Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala375Thr Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Ala375Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala395Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala395Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala402Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala406Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala406Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala451Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala496Val Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Ala521Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala521Val Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Ala551Glu Uncertain significance Multiple submitters
familial ovarian cancer
BRIP1 p.Ala55Thr Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Ala55Val Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Ala585Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala585Pro Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Ala60Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala62Ser Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Ala678Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala678Thr Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Ala678Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala72Glu Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Ala72Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala745Val Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Ala755Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala755Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala776Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala821Pro Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Ala821Val Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Ala828Gly Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Ala877Pro Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Ala877Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala877Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala89Gly Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Ala925Thr Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Ala926Glu Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Ala926Val Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Ala939Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala977Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala977Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala977Thr Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Ala977Val Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Ala980Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg1035Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg106Ser Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Arg1085Thr Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Arg1119Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg1154Thr Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Arg1174Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg148Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg173Pro Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Arg251His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg264Gly Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Arg265Ser Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Arg279Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg356Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg378Lys Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Arg378Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg403Gly Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Arg403Trp Uncertain significance Multiple submitters
familial ovarian cancer
BRIP1 p.Arg416Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg419Pro Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Arg439Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg459Gly Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Arg579Ser Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Arg707Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg707Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg707His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg707Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg762Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg762His Uncertain significance Multiple submitters
Breast and/or ovarian cancer
BRIP1 p.Arg762Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg777Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg777Gly Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Arg777His Uncertain significance Multiple submitters
familial ovarian cancer
BRIP1 p.Arg777Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg808Gly Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Arg814Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg823Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg831Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg834Lys Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Arg834Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg848Cys Uncertain significance Multiple submitters
familial ovarian cancer
BRIP1 p.Arg848Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg850Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg855Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg865Trp Uncertain significance Multiple submitters
familial ovarian cancer
BRIP1 p.Arg899Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg965Gly Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Arg987Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asn101Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asn1028Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asn1028Lys Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Asn1028Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asn1028Thr Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Asn1057Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asn1061Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asn1087Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asn1118Asp Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Asn1118Ser Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Asn1147Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asn1156Ser Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Asn1212Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asn1219His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asn151Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asn182Ser Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Asn196Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asn203Ser Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Asn291Ser Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Asn306Ser Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Asn397His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asn427Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asn428Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asn429Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asn447Thr Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Asn659Ser Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Asn716Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asn801Asp Uncertain significance Multiple submitters
breast-ovarian cancer, familial, susceptibility to, 1
BRIP1 p.Asn801Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asn826Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asn826Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asn851Lys Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Asn933Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asn955Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asp1080Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asp1100His Uncertain significance Multiple submitters
Fanconi anemia complementation group J

Predictors split 813

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 813

BRIP1 p.Ala257Val Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Ala334Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala334Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala334Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala349Thr Uncertain significance Multiple submitters
Breast and/or ovarian cancer
BRIP1 p.Ala349Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala551Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala551Val Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Ala599Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala62Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala62Val Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Ala662Thr Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Ala755Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala778Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Ala841Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg160Gly Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Arg160Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg162Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg173His Uncertain significance Multiple submitters
familial ovarian cancer
BRIP1 p.Arg173Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg261Gly Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Arg261Ser Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Arg265Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg34Gly Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Arg356Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg403Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg416Leu Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Arg419Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg419Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg431Lys Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Arg459Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg539Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg658Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg658Trp Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Arg798Gln Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Arg836Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg855Cys Uncertain significance Multiple submitters
familial ovarian cancer
BRIP1 p.Arg855His Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Arg855Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Arg865Gln Uncertain significance Multiple submitters
familial ovarian cancer
BRIP1 p.Asn1061His Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Asn30His Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Asn370Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asn37Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asn384Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asn429His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asn429Thr Uncertain significance Multiple submitters
familial ovarian cancer
BRIP1 p.Asn447His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asn560His Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Asn560Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asn568Tyr Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Asn590Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asn638Asp Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Asn666Asp Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Asn666Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asn775Lys Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Asn837Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asp1080Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asp1112Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asp1143Gly Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Asp1169Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asp152His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asp280Gly Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Asp303Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asp423Gly Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Asp423His Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Asp546Gly Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Asp602Gly Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Asp602Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asp674Asn Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Asp744His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asp744Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asp753Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asp773Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asp774Gly Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Asp791Glu Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Asp847Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Asp937Tyr Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Cys175Gly Uncertain significance Multiple submitters
familial ovarian cancer
BRIP1 p.Cys175Tyr Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Cys214Ser Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Cys217Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Cys217Tyr Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Cys219Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Cys401Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Cys442Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Cys465Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Cys465Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Cys661Arg Uncertain significance Multiple submitters
hereditary skin disorder
BRIP1 p.Cys661Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Cys86Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Cys86Tyr Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Cys90Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Cys948Trp Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Gln388His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Gln414His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Gln491Arg Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Gln491Leu Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Gln499Arg Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Gln524Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Gln524Glu Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Gln524Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Gln553His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Gln634His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Gln645Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Gln665Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Gln685His Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Gln728Glu Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Gln867Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Gln869Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Gln869Pro Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Glu1039Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Glu1042Gly Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Glu1135Gly Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Glu1140Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Glu287Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Glu296Gly Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Glu300Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Glu339Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Glu379Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Glu458Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Glu472Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Glu511Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Glu515Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Glu515Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Glu671Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Glu671Gly Uncertain significance Multiple submitters
familial ovarian cancer
BRIP1 p.Glu718Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Glu7Gln Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Glu7Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Glu818Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Glu967Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Gly270Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Gly290Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Gly290Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Gly304Arg Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Gly315Glu Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Gly35Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Gly481Ser Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Gly492Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Gly569Trp Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Gly628Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Gly649Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Gly657Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Gly657Asp Uncertain significance Multiple submitters
hereditary breast carcinoma
BRIP1 p.Gly657Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Gly657Val Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Gly712Asp Uncertain significance Multiple submitters
Fanconi anemia complementation group J
BRIP1 p.Gly729Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
BRIP1 p.Gly730Glu Uncertain significance Multiple submitters
hereditary breast carcinoma

All BRIP1 variants

Pathogenic 465

Showing the top 300 by review status; the full set is in the sitemap.

c.1936del Multiple submitters hereditary breast carcinoma
c.627+2T>C Multiple submitters
c.630_637delCCCTGGCC Multiple submitters hereditary neoplastic syndrome
p.Ala402fs Multiple submitters hereditary breast carcinoma
p.Ala551fs Multiple submitters hereditary neoplastic syndrome
p.Ala841fs Multiple submitters hereditary neoplastic syndrome
p.Arg160fs Multiple submitters Fanconi anemia complementation group J
p.Arg171Ter Multiple submitters hereditary neoplastic syndrome
p.Arg416fs Multiple submitters hereditary neoplastic syndrome
p.Arg439Ter Multiple submitters BRIP1-related disorder
p.Arg579fs Multiple submitters hereditary neoplastic syndrome
p.Arg581Ter Multiple submitters hereditary neoplastic syndrome
p.Arg658fs Multiple submitters hereditary breast carcinoma
p.Arg798fs Multiple submitters hereditary breast carcinoma
p.Arg836fs Multiple submitters hereditary neoplastic syndrome
p.Asn119fs Multiple submitters hereditary breast carcinoma
p.Asn203fs Multiple submitters hereditary neoplastic syndrome
p.Asn427delinsGlyMetAsnTer Multiple submitters hereditary neoplastic syndrome
p.Asn429fs Multiple submitters hereditary breast carcinoma
p.Asn452fs Multiple submitters Fanconi anemia complementation group J
p.Asn541fs Multiple submitters hereditary breast carcinoma
p.Asn576fs Multiple submitters hereditary neoplastic syndrome
p.Asn837fs Multiple submitters hereditary breast carcinoma
p.Asn97fs Multiple submitters hereditary neoplastic syndrome
p.Asp460fs Multiple submitters Fanconi anemia complementation group J
p.Asp566_Lys567insIleSerAsnTer Multiple submitters hereditary neoplastic syndrome
p.Asp898fs Multiple submitters hereditary breast carcinoma
p.Cys214_Ser215insTer Multiple submitters hereditary breast carcinoma
p.Cys761fs Multiple submitters hereditary neoplastic syndrome
p.Cys90Ter Multiple submitters hereditary breast carcinoma
p.Gln102Ter Multiple submitters hereditary neoplastic syndrome
p.Gln126Ter Multiple submitters hereditary breast carcinoma
p.Gln143Ter Multiple submitters hereditary breast carcinoma
p.Gln155Ter Multiple submitters hereditary neoplastic syndrome
p.Gln208Ter Multiple submitters hereditary neoplastic syndrome
p.Gln223Ter Multiple submitters hereditary neoplastic syndrome
p.Gln227fs Multiple submitters hereditary neoplastic syndrome
p.Gln258Ter Multiple submitters hereditary breast carcinoma
p.Gln25fs Multiple submitters hereditary breast carcinoma
p.Gln322fs Multiple submitters hereditary neoplastic syndrome
p.Gln322Ter Multiple submitters hereditary breast carcinoma
p.Gln360Ter Multiple submitters hereditary breast carcinoma
p.Gln376_Ile377insTer Multiple submitters hereditary neoplastic syndrome
p.Gln388Ter Multiple submitters hereditary breast carcinoma
p.Gln540Ter Multiple submitters Fanconi anemia complementation group J
p.Gln554Ter Multiple submitters hereditary breast carcinoma
p.Gln561fs Multiple submitters hereditary breast carcinoma
p.Gln582Ter Multiple submitters hereditary neoplastic syndrome
p.Gln64Ter Multiple submitters hereditary neoplastic syndrome
p.Gln665Ter Multiple submitters hereditary breast carcinoma
p.Gln685Ter Multiple submitters Fanconi anemia complementation group J
p.Gln740fs Multiple submitters hereditary neoplastic syndrome
p.Gln740Ter Multiple submitters familial ovarian cancer
p.Gln815Ter Multiple submitters hereditary neoplastic syndrome
p.Gln820Ter Multiple submitters hereditary neoplastic syndrome
p.Gln827Ter Multiple submitters hereditary neoplastic syndrome
p.Gln867Ter Multiple submitters hereditary neoplastic syndrome
p.Gln869fs Multiple submitters Fanconi anemia complementation group J
p.Gln869Ter Multiple submitters Fanconi anemia complementation group J
p.Gln903Ter Multiple submitters hereditary neoplastic syndrome
p.Gln944Ter Multiple submitters Fanconi anemia complementation group J
p.Glu117Ter Multiple submitters hereditary neoplastic syndrome
p.Glu150Ter Multiple submitters Fanconi anemia complementation group J
p.Glu339Ter Multiple submitters hereditary neoplastic syndrome
p.Glu357Ter Multiple submitters hereditary neoplastic syndrome
p.Glu387fs Multiple submitters hereditary breast carcinoma
p.Glu387Ter Multiple submitters hereditary breast carcinoma
p.Glu399Ter Multiple submitters Fanconi anemia complementation group J
p.Glu450Ter Multiple submitters hereditary neoplastic syndrome
p.Glu458Ter Multiple submitters BRIP1-related disorder
p.Glu472Ter Multiple submitters hereditary neoplastic syndrome
p.Glu501fs Multiple submitters Fanconi anemia complementation group J
p.Glu512fs Multiple submitters hereditary breast carcinoma
p.Glu675fs Multiple submitters hereditary breast carcinoma
p.Glu751fs Multiple submitters Fanconi anemia complementation group J
p.Glu924Ter Multiple submitters hereditary neoplastic syndrome
p.Glu945fs Multiple submitters familial ovarian cancer
p.Gly103fs Multiple submitters hereditary neoplastic syndrome
p.Gly212fs Multiple submitters hereditary neoplastic syndrome
p.Gly529Ter Multiple submitters hereditary breast carcinoma
p.Gly677fs Multiple submitters hereditary neoplastic syndrome
p.Gly712fs Multiple submitters hereditary neoplastic syndrome
p.Gly840fs Multiple submitters hereditary neoplastic syndrome
p.His281fs Multiple submitters hereditary breast carcinoma
p.His587fs Multiple submitters hereditary neoplastic syndrome
p.Ile10fs Multiple submitters hereditary breast carcinoma
p.Ile489fs Multiple submitters hereditary neoplastic syndrome
p.Ile504fs Multiple submitters hereditary neoplastic syndrome
p.Ile746fs Multiple submitters hereditary breast carcinoma
p.Ile902fs Multiple submitters hereditary breast carcinoma
p.Leu183fs Multiple submitters hereditary breast carcinoma
p.Leu33fs Multiple submitters hereditary neoplastic syndrome
p.Leu372fs Multiple submitters hereditary breast carcinoma
p.Leu490fs Multiple submitters Fanconi anemia complementation group J
p.Leu537fs Multiple submitters hereditary breast carcinoma
p.Leu56fs Multiple submitters hereditary breast carcinoma
p.Leu571fs Multiple submitters hereditary neoplastic syndrome
p.Leu680fs Multiple submitters Inherited ovarian cancer (without breast cancer)
p.Leu704Ter Multiple submitters Fanconi anemia complementation group J
p.Leu713Ter Multiple submitters hereditary breast carcinoma
p.Leu719fs Multiple submitters Fanconi anemia complementation group J
p.Leu842fs Multiple submitters hereditary breast carcinoma
p.Leu84Ter Multiple submitters hereditary neoplastic syndrome
p.Leu881fs Multiple submitters hereditary breast carcinoma
p.Lys14Ter Multiple submitters hereditary breast carcinoma
p.Lys172Ter Multiple submitters hereditary breast carcinoma
p.Lys234Ter Multiple submitters hereditary breast carcinoma
p.Lys254fs Multiple submitters familial ovarian cancer
p.Lys297fs Multiple submitters hereditary breast carcinoma
p.Lys386_Gln388delinsTer Multiple submitters hereditary breast carcinoma
p.Lys432Ter Multiple submitters Fanconi anemia complementation group J
p.Lys656Ter Multiple submitters Fanconi anemia complementation group J
p.Lys703fs Multiple submitters Fanconi anemia complementation group J
p.Lys752fs Multiple submitters Inherited ovarian cancer (without breast cancer)
p.Lys897fs Multiple submitters hereditary breast carcinoma
p.Lys915fs Multiple submitters hereditary breast carcinoma
p.Met4fs Multiple submitters hereditary breast carcinoma
p.Phe108fs Multiple submitters hereditary breast carcinoma
p.Phe154fs Multiple submitters Fanconi anemia complementation group J
p.Phe17fs Multiple submitters hereditary breast carcinoma
p.Phe292fs Multiple submitters hereditary neoplastic syndrome
p.Phe328fs Multiple submitters hereditary neoplastic syndrome
p.Phe538fs Multiple submitters hereditary breast carcinoma
p.Phe771fs Multiple submitters hereditary breast carcinoma
p.Pro129_Glu130insTer Multiple submitters Fanconi anemia complementation group J
p.Pro129fs Multiple submitters hereditary neoplastic syndrome
p.Pro18fs Multiple submitters hereditary neoplastic syndrome
p.Pro488fs Multiple submitters hereditary breast carcinoma
p.Pro696fs Multiple submitters hereditary neoplastic syndrome
p.Pro787fs Multiple submitters Fanconi anemia complementation group J
p.Ser105Ter Multiple submitters hereditary neoplastic syndrome
p.Ser122fs Multiple submitters hereditary neoplastic syndrome
p.Ser128fs Multiple submitters hereditary neoplastic syndrome
p.Ser215fs Multiple submitters Fanconi anemia complementation group J
p.Ser230fs Multiple submitters Inherited ovarian cancer (without breast cancer)
p.Ser320fs Multiple submitters hereditary neoplastic syndrome
p.Ser380fs Multiple submitters hereditary breast carcinoma
p.Ser38fs Multiple submitters hereditary breast carcinoma
p.Ser3fs Multiple submitters hereditary breast carcinoma
p.Ser53fs Multiple submitters hereditary neoplastic syndrome
p.Ser580Ter Multiple submitters hereditary breast carcinoma
p.Ser601fs Multiple submitters Fanconi anemia complementation group J
p.Ser624fs Multiple submitters hereditary breast carcinoma
p.Ser644Ter Multiple submitters Fanconi anemia complementation group J
p.Ser66fs Multiple submitters hereditary neoplastic syndrome
p.Ser68fs Multiple submitters hereditary neoplastic syndrome
p.Ser766fs Multiple submitters hereditary neoplastic syndrome
p.Ser772Ter Multiple submitters hereditary neoplastic syndrome
p.Ser861fs Multiple submitters hereditary breast carcinoma
p.Ser913_Leu914insTer Multiple submitters hereditary breast carcinoma
p.Ser913fs Multiple submitters Fanconi anemia complementation group J
p.Ser919fs Multiple submitters hereditary neoplastic syndrome
p.Ser92Ter Multiple submitters hereditary neoplastic syndrome
p.Ser930Ter Multiple submitters hereditary breast carcinoma
p.Thr192_Val193insTer Multiple submitters hereditary neoplastic syndrome
p.Thr260fs Multiple submitters hereditary breast carcinoma
p.Thr282fs Multiple submitters hereditary breast carcinoma
p.Thr411fs Multiple submitters hereditary neoplastic syndrome
p.Thr486fs Multiple submitters Fanconi anemia complementation group J
p.Thr733fs Multiple submitters hereditary neoplastic syndrome
p.Thr781fs Multiple submitters hereditary neoplastic syndrome
p.Trp335Ter Multiple submitters hereditary neoplastic syndrome
p.Trp448Ter Multiple submitters hereditary neoplastic syndrome
p.Trp558Ter Multiple submitters hereditary breast carcinoma
p.Trp647Ter Multiple submitters hereditary breast carcinoma
p.Trp708Ter Multiple submitters hereditary breast carcinoma
p.Trp714Ter Multiple submitters hereditary breast carcinoma
p.Trp816Ter Multiple submitters hereditary breast carcinoma
p.Trp839Ter Multiple submitters hereditary neoplastic syndrome
p.Tyr110Ter Multiple submitters hereditary neoplastic syndrome
p.Tyr311fs Multiple submitters hereditary neoplastic syndrome
p.Tyr313Ter Multiple submitters hereditary breast carcinoma
p.Tyr353Ter Multiple submitters Fanconi anemia complementation group J
p.Tyr408fs Multiple submitters hereditary neoplastic syndrome
p.Tyr461Ter Multiple submitters hereditary neoplastic syndrome
p.Tyr698Ter Multiple submitters hereditary neoplastic syndrome
p.Tyr743Ter Multiple submitters hereditary breast carcinoma
p.Tyr921Ter Multiple submitters hereditary breast carcinoma
p.Val180fs Multiple submitters hereditary neoplastic syndrome
p.Val289fs Multiple submitters hereditary neoplastic syndrome
p.Val413fs Multiple submitters familial ovarian cancer
p.Val497fs Multiple submitters hereditary breast carcinoma
p.Val598fs Multiple submitters hereditary neoplastic syndrome
p.Val611fs Multiple submitters hereditary neoplastic syndrome
p.Val687fs Multiple submitters hereditary breast carcinoma
p.Val723fs Multiple submitters hereditary breast carcinoma
p.Val741fs Multiple submitters hereditary breast carcinoma
p.Val864fs Multiple submitters hereditary breast carcinoma
c.1474-?_1628+?del Single submitter hereditary breast carcinoma
c.1935+1del Single submitter hereditary breast carcinoma
c.(2492_2493 Single submitter familial ovarian cancer
c.94-7_178dup Single submitter hereditary breast carcinoma
c.-31+498_187del Single submitter Fanconi anemia complementation group J
p.Ala395fs Single submitter hereditary breast carcinoma
p.Ala418fs Single submitter hereditary breast carcinoma
p.Ala513fs Single submitter Fanconi anemia complementation group J
p.Ala755fs Single submitter hereditary neoplastic syndrome
p.Ala80fs Single submitter hereditary breast carcinoma
p.Ala821fs Single submitter hereditary breast carcinoma
p.Arg148fs Single submitter hereditary breast carcinoma
p.Arg173fs Single submitter Fanconi anemia complementation group J
p.Arg261fs Single submitter hereditary neoplastic syndrome
p.Arg34fs Single submitter hereditary breast carcinoma
p.Arg419fs Single submitter hereditary neoplastic syndrome
p.Arg431fs Single submitter hereditary neoplastic syndrome
p.Arg431Ter Single submitter hereditary breast carcinoma
p.Arg707fs Single submitter hereditary breast carcinoma
p.Arg831fs Single submitter Fanconi anemia complementation group J
p.Arg831Ter Single submitter hereditary breast carcinoma
p.Arg965fs Single submitter hereditary breast carcinoma
p.Asn101fs Single submitter hereditary breast carcinoma
p.Asn151fs Single submitter hereditary breast carcinoma
p.Asn291fs Single submitter hereditary breast carcinoma
p.Asn306fs Single submitter hereditary neoplastic syndrome
p.Asn447fs Single submitter hereditary neoplastic syndrome
p.Asn560fs Single submitter hereditary neoplastic syndrome
p.Asn590fs Single submitter hereditary breast carcinoma
p.Asn638fs Single submitter
p.Asn638Ter Single submitter hereditary breast carcinoma
p.Asn643fs Single submitter hereditary breast carcinoma
p.Asn659fs Single submitter hereditary breast carcinoma
p.Asn788_Val789insTer Single submitter hereditary neoplastic syndrome
p.Asn933fs Single submitter hereditary breast carcinoma
p.Asn969fs Single submitter hereditary breast carcinoma
p.Asp149fs Single submitter hereditary breast carcinoma
p.Asp188fs Single submitter hereditary breast carcinoma
p.Asp336fs Single submitter hereditary breast carcinoma
p.Asp361fs Single submitter hereditary neoplastic syndrome
p.Asp400fs Single submitter hereditary breast carcinoma
p.Asp535fs Single submitter hereditary breast carcinoma
p.Asp566fs Single submitter
p.Asp602fs Single submitter hereditary breast carcinoma
p.Asp847fs Single submitter hereditary neoplastic syndrome
p.Asp99_Met100insTer Single submitter
p.Cys350fs Single submitter hereditary breast carcinoma
p.Cys367fs Single submitter hereditary neoplastic syndrome
p.Cys442Ter Single submitter hereditary breast carcinoma
p.Cys58fs Single submitter hereditary breast carcinoma
p.Cys832fs Single submitter hereditary neoplastic syndrome
p.Cys86Ter Single submitter
p.Gln143fs Single submitter hereditary breast carcinoma
p.Gln155fs Single submitter hereditary neoplastic syndrome
p.Gln168fs Single submitter Fanconi anemia complementation group J
p.Gln168Ter Single submitter hereditary breast carcinoma
p.Gln169delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer Single submitter Fanconi anemia complementation group J
p.Gln169fs Single submitter hereditary breast carcinoma
p.Gln169Ter Single submitter Fanconi anemia complementation group J
p.Gln255Ter Single submitter hereditary neoplastic syndrome
p.Gln326Ter Single submitter hereditary breast carcinoma
p.Gln329fs Single submitter Fanconi anemia complementation group J
p.Gln329Ter Single submitter hereditary breast carcinoma
p.Gln491fs Single submitter hereditary breast carcinoma
p.Gln499fs Single submitter Fanconi anemia complementation group J
p.Gln634Ter Single submitter hereditary breast carcinoma
p.Gln685fs Single submitter hereditary breast carcinoma
p.Gln83Ter Single submitter hereditary breast carcinoma
p.Gln866fs Single submitter hereditary neoplastic syndrome
p.Gln889Ter Single submitter Fanconi anemia complementation group J
p.Gln947fs Single submitter hereditary breast carcinoma
p.Glu157Ter Single submitter hereditary breast carcinoma
p.Glu179Ter Single submitter hereditary neoplastic syndrome
p.Glu200fs Single submitter hereditary neoplastic syndrome
p.Glu200Ter Single submitter hereditary breast carcinoma
p.Glu399fs Single submitter hereditary breast carcinoma
p.Glu404fs Single submitter hereditary neoplastic syndrome
p.Glu404Ter Single submitter hereditary neoplastic syndrome
p.Glu421fs Single submitter hereditary breast carcinoma
p.Glu462Ter Single submitter hereditary breast carcinoma
p.Glu501Ter Single submitter familial ovarian cancer
p.Glu502Ter Single submitter hereditary breast carcinoma
p.Glu511fs Single submitter hereditary breast carcinoma
p.Glu511Ter Single submitter hereditary breast carcinoma
p.Glu512Ter Single submitter Fanconi anemia complementation group J
p.Glu668Ter Single submitter hereditary breast carcinoma
p.Glu702Ter Single submitter hereditary neoplastic syndrome
p.Glu706fs Single submitter hereditary breast carcinoma
p.Glu737fs Single submitter Fanconi anemia complementation group J
p.Glu751Ter Single submitter Fanconi anemia complementation group J
p.Glu767fs Single submitter hereditary breast carcinoma
p.Glu883fs Single submitter hereditary breast carcinoma
p.Glu906Ter Single submitter Fanconi anemia complementation group J
p.Glu910fs Single submitter hereditary breast carcinoma
p.Glu910Ter Single submitter hereditary breast carcinoma
p.Glu938Ter Single submitter hereditary breast carcinoma
p.Glu967Ter Single submitter hereditary breast carcinoma
p.Gly12fs Single submitter hereditary breast carcinoma
p.Gly190Ter Single submitter hereditary breast carcinoma
p.Gly270fs Single submitter hereditary breast carcinoma
p.Gly344fs Single submitter Fanconi anemia complementation group J
p.Gly35_Leu36insTer Single submitter hereditary breast carcinoma
p.Gly492Ter Single submitter Fanconi anemia complementation group J
p.Gly51fs Single submitter hereditary neoplastic syndrome
p.Gly529fs Single submitter Fanconi anemia complementation group J
p.Gly654fs Single submitter Fanconi anemia complementation group J
p.Gly730fs Single submitter Fanconi anemia complementation group J
p.Gly750fs Single submitter hereditary breast carcinoma
p.Gly840_Ala841insArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrXaaXaaXaaXaaXaaXaaLysLysLysLysLysLysLysLysLysLysArgAsnAspTrpGly Single submitter hereditary breast carcinoma
p.His237fs Single submitter hereditary neoplastic syndrome
p.His317fs Single submitter hereditary breast carcinoma
p.His478fs Single submitter Fanconi anemia complementation group J

Pathogenic/Likely pathogenic 120

c.1340+1G>A Multiple submitters hereditary neoplastic syndrome
c.1473+3A>T Multiple submitters hereditary breast carcinoma
c.1474-1G>A Multiple submitters hereditary neoplastic syndrome
c.1474-2A>G Multiple submitters hereditary breast carcinoma
c.1628+5G>A Multiple submitters hereditary neoplastic syndrome
c.1794+1G>A Multiple submitters hereditary neoplastic syndrome
c.1936-1G>A Multiple submitters hereditary neoplastic syndrome
c.1936-2A>G Multiple submitters hereditary breast carcinoma
c.205+1del Multiple submitters hereditary neoplastic syndrome
c.205+2T>C Multiple submitters hereditary breast carcinoma
c.2258-1G>A Multiple submitters hereditary neoplastic syndrome
c.2258-1G>C Multiple submitters Fanconi anemia complementation group J
c.2258-1G>T Multiple submitters hereditary neoplastic syndrome
c.2398_2400delinsATTTG Multiple submitters hereditary neoplastic syndrome
c.2492+2dup Multiple submitters Inherited ovarian cancer (without breast cancer)
c.2493-1G>A Multiple submitters Fanconi anemia complementation group J
c.2576-1G>A Multiple submitters hereditary neoplastic syndrome
c.2905+1G>T Multiple submitters Fanconi anemia complementation group J
c.507+1G>T Multiple submitters hereditary breast carcinoma
c.508-1G>C Multiple submitters hereditary neoplastic syndrome
c.508-1G>T Multiple submitters hereditary neoplastic syndrome
c.508-2A>C Multiple submitters hereditary breast carcinoma
c.508-2A>G Multiple submitters hereditary neoplastic syndrome
c.508-2A>T Multiple submitters Fanconi anemia complementation group J
c.627+1G>A Multiple submitters hereditary neoplastic syndrome
c.918+1G>A Multiple submitters Inherited ovarian cancer (without breast cancer)
c.93+1G>T Multiple submitters hereditary breast carcinoma
c.93+2del Multiple submitters Fanconi anemia complementation group J
p.Ala27fs Multiple submitters Fanconi anemia complementation group J
p.Ala349Pro Multiple submitters diffuse intrinsic pontine glioma
p.Ala759fs Multiple submitters Fanconi anemia complementation group J
p.Arg162Ter Multiple submitters hereditary neoplastic syndrome
p.Arg216fs Multiple submitters hereditary neoplastic syndrome
p.Arg251Cys Multiple submitters familial ovarian cancer
p.Arg356Ter Multiple submitters familial ovarian cancer
p.Arg798Ter Multiple submitters familial ovarian cancer
p.Arg823fs Multiple submitters hereditary breast carcinoma
p.Asn225fs Multiple submitters hereditary breast carcinoma
p.Asn397Ter Multiple submitters hereditary breast carcinoma
p.Asn568fs Multiple submitters hereditary breast carcinoma
p.Asn905fs Multiple submitters hereditary breast carcinoma
p.Asn97_Asn98insTer Multiple submitters hereditary breast carcinoma
p.Asp736Ter Multiple submitters hereditary neoplastic syndrome
p.Cys693fs Multiple submitters hereditary breast carcinoma
p.Gln169His Multiple submitters hereditary breast carcinoma ⚠
p.Gln227Ter Multiple submitters hereditary neoplastic syndrome
p.Gln25Ter Multiple submitters hereditary breast carcinoma
p.Gln376fs Multiple submitters hereditary neoplastic syndrome
p.Gln376Ter Multiple submitters hereditary neoplastic syndrome
p.Gln40Ter Multiple submitters hereditary neoplastic syndrome
p.Gln414Ter Multiple submitters BRIP1-associated familial cancer predisposition
p.Gln491Ter Multiple submitters hereditary breast carcinoma
p.Gln499Ter Multiple submitters Inherited ovarian cancer (without breast cancer)
p.Gln65Ter Multiple submitters hereditary neoplastic syndrome
p.Gln673Ter Multiple submitters hereditary neoplastic syndrome
p.Gln728Ter Multiple submitters hereditary breast carcinoma
p.Gln793Ter Multiple submitters hereditary breast carcinoma
p.Gln866Ter Multiple submitters hereditary breast carcinoma
p.Gln947Ter Multiple submitters hereditary neoplastic syndrome
p.Glu1039fs Multiple submitters familial ovarian cancer
p.Glu412fs Multiple submitters hereditary breast carcinoma
p.Glu454Ter Multiple submitters hereditary breast carcinoma
p.Glu45Ter Multiple submitters Breast and/or ovarian cancer
p.Glu515fs Multiple submitters hereditary neoplastic syndrome
p.Glu671Ter Multiple submitters hereditary breast carcinoma
p.Glu702fs Multiple submitters hereditary breast carcinoma
p.Glu795Ter Multiple submitters hereditary neoplastic syndrome
p.Glu81fs Multiple submitters hereditary breast carcinoma
p.Glu945Ter Multiple submitters hereditary neoplastic syndrome
p.Gly12_Val13insTer Multiple submitters hereditary breast ovarian cancer syndrome
p.Gly35Ter Multiple submitters hereditary breast carcinoma
p.Gly657fs Multiple submitters hereditary neoplastic syndrome
p.His213fs Multiple submitters hereditary breast carcinoma
p.His314fs Multiple submitters hereditary neoplastic syndrome
p.His715fs Multiple submitters hereditary breast carcinoma
p.Ile780fs Multiple submitters hereditary breast ovarian cancer syndrome
p.Leu301fs Multiple submitters hereditary neoplastic syndrome
p.Leu340fs Multiple submitters familial ovarian cancer
p.Leu358fs Multiple submitters hereditary breast carcinoma
p.Leu438fs Multiple submitters Fanconi anemia complementation group J
p.Leu43fs Multiple submitters Fanconi anemia complementation group J
p.Leu475fs Multiple submitters Fanconi anemia complementation group J
p.Leu54Ter Multiple submitters hereditary neoplastic syndrome
p.Leu922Ter Multiple submitters hereditary neoplastic syndrome
p.Lys137fs Multiple submitters hereditary neoplastic syndrome
p.Lys159fs Multiple submitters hereditary neoplastic syndrome
p.Lys222Ter Multiple submitters hereditary breast ovarian cancer syndrome
p.Lys386Ter Multiple submitters hereditary neoplastic syndrome
p.Lys528Ter Multiple submitters hereditary breast carcinoma
p.Lys705fs Multiple submitters hereditary neoplastic syndrome
p.Lys70fs Multiple submitters hereditary neoplastic syndrome
p.Pro210fs Multiple submitters hereditary breast carcinoma
p.Pro619fs Multiple submitters hereditary neoplastic syndrome
p.Ser206fs Multiple submitters hereditary neoplastic syndrome
p.Ser24fs Multiple submitters hereditary neoplastic syndrome
p.Ser269Ter Multiple submitters hereditary breast carcinoma
p.Ser565Ter Multiple submitters hereditary neoplastic syndrome
p.Ser624Ter Multiple submitters Inherited ovarian cancer (without breast cancer)
p.Ser805Ter Multiple submitters hereditary breast carcinoma
p.Thr132fs Multiple submitters hereditary neoplastic syndrome
p.Thr48fs Multiple submitters hereditary breast carcinoma
p.Thr630fs Multiple submitters hereditary breast carcinoma
p.Trp468Ter Multiple submitters hereditary neoplastic syndrome
p.Trp592fs Multiple submitters hereditary breast carcinoma
p.Trp592Ter Multiple submitters familial ovarian cancer
p.Trp5Ter Multiple submitters hereditary breast carcinoma
p.Trp63Ter Multiple submitters hereditary breast carcinoma
p.Tyr147_Asp149delinsTer Multiple submitters hereditary neoplastic syndrome
p.Tyr147fs Multiple submitters hereditary neoplastic syndrome
p.Tyr16fs Multiple submitters BRIP1-associated familial cancer predisposition
p.Tyr247Ter Multiple submitters hereditary neoplastic syndrome
p.Tyr268Ter Multiple submitters hereditary neoplastic syndrome
p.Tyr742Ter Multiple submitters hereditary breast carcinoma
p.Tyr748Ter Multiple submitters Inherited ovarian cancer (without breast cancer)
p.Tyr800Ter Multiple submitters hereditary breast carcinoma
p.Tyr822fs Multiple submitters hereditary neoplastic syndrome
p.Val390fs Multiple submitters hereditary breast carcinoma
p.Val82fs Multiple submitters hereditary breast carcinoma
p.Val894_Ser895insTer Multiple submitters hereditary breast carcinoma
p.Gly830fs Single submitter Fanconi anemia complementation group J

Likely pathogenic 163

c.1140+1G>A Multiple submitters hereditary neoplastic syndrome
c.1141-2A>C Multiple submitters hereditary breast carcinoma
c.1141-2A>G Multiple submitters hereditary neoplastic syndrome
c.1141-2A>T Multiple submitters hereditary breast carcinoma
c.1340+2_1340+5del Multiple submitters hereditary breast carcinoma
c.1341-1G>A Multiple submitters hereditary breast carcinoma
c.1341-1G>C Multiple submitters Fanconi anemia complementation group J
c.1341-2A>C Multiple submitters hereditary breast carcinoma
c.1473+1G>A Multiple submitters hereditary neoplastic syndrome
c.1473+1G>C Multiple submitters hereditary breast carcinoma
c.1473+1G>T Multiple submitters hereditary neoplastic syndrome
c.1628+1G>C Multiple submitters hereditary neoplastic syndrome
c.1629-1G>C Multiple submitters hereditary neoplastic syndrome
c.1629-1G>T Multiple submitters hereditary neoplastic syndrome
c.1629-3_1634del Multiple submitters hereditary neoplastic syndrome
c.1794+1G>C Multiple submitters Fanconi anemia complementation group J
c.1794+2T>A Multiple submitters hereditary neoplastic syndrome
c.1795-1G>A Multiple submitters familial ovarian cancer
c.1795-1G>C Multiple submitters hereditary neoplastic syndrome
c.1936-2A>C Multiple submitters hereditary breast carcinoma
c.204_205+1delinsAGT Multiple submitters hereditary neoplastic syndrome
c.205+1G>A Multiple submitters Fanconi anemia complementation group J
c.2370_2379+20del Multiple submitters hereditary breast carcinoma
c.2379+1G>A Multiple submitters hereditary neoplastic syndrome
c.2379+1G>T Multiple submitters hereditary breast carcinoma
c.2380-1G>A Multiple submitters hereditary breast carcinoma
c.2380-2A>C Multiple submitters hereditary breast carcinoma
c.2380-45_2402delinsTTGACCATTTGAATGGT Multiple submitters hereditary breast carcinoma
c.2492_2492+3del Multiple submitters hereditary neoplastic syndrome
c.2492_2492+5del Multiple submitters Fanconi anemia complementation group J
c.2492+1del Multiple submitters hereditary breast carcinoma
c.2492+1G>C Multiple submitters hereditary breast carcinoma
c.2492+2T>C Multiple submitters hereditary breast carcinoma
c.2493-1G>C Multiple submitters hereditary neoplastic syndrome
c.2493-2A>G Multiple submitters hereditary breast carcinoma
c.2575+1G>A Multiple submitters hereditary breast carcinoma
c.2575+1G>C Multiple submitters hereditary neoplastic syndrome
c.2575+1G>T Multiple submitters hereditary neoplastic syndrome
c.2576-1G>T Multiple submitters hereditary breast carcinoma
c.2576-2A>G Multiple submitters hereditary neoplastic syndrome
c.2905+1G>A Multiple submitters hereditary neoplastic syndrome
c.2905+1G>C Multiple submitters hereditary neoplastic syndrome
c.379+1G>A Multiple submitters hereditary neoplastic syndrome
c.379+1G>T Multiple submitters familial ovarian cancer
c.379+2T>C Multiple submitters hereditary neoplastic syndrome
c.627+1G>T Multiple submitters hereditary neoplastic syndrome
c.627+2T>A Multiple submitters hereditary neoplastic syndrome
c.628-2A>G Multiple submitters hereditary breast carcinoma
c.628-5_629del Multiple submitters hereditary neoplastic syndrome
c.73_93+14del Multiple submitters hereditary breast carcinoma
c.918+2T>C Multiple submitters hereditary breast carcinoma
c.919-1G>A Multiple submitters hereditary breast carcinoma
c.919-2A>G Multiple submitters familial ovarian cancer
c.93+1G>A Multiple submitters hereditary neoplastic syndrome
c.93+1G>C Multiple submitters hereditary breast carcinoma
c.93+2T>C Multiple submitters Fanconi anemia complementation group J
c.94-1G>A Multiple submitters hereditary breast carcinoma
p.Arg848Ser Multiple submitters hereditary neoplastic syndrome
p.Gln169= Multiple submitters hereditary neoplastic syndrome
p.Glu975fs Multiple submitters hereditary breast carcinoma
p.Leu594Val Multiple submitters Fanconi anemia complementation group J ⚠
c.1140+6T>C Single submitter hereditary neoplastic syndrome
c.1141-1G>A Single submitter hereditary neoplastic syndrome
c.1141-1G>C Single submitter hereditary neoplastic syndrome
c.1474_1475del Single submitter hereditary breast ovarian cancer syndrome
c.1474-13_1475del Single submitter hereditary breast carcinoma
c.1474-1G>C Single submitter hereditary breast carcinoma
c.1474-1G>T Single submitter hereditary neoplastic syndrome
c.1475del Single submitter hereditary neoplastic syndrome
c.1628+1G>T Single submitter hereditary breast carcinoma
c.1628+2_1628+10del Single submitter Fanconi anemia complementation group J
c.1628+2T>G Single submitter hereditary breast carcinoma
c.1629-17_1652del Single submitter hereditary breast carcinoma
c.1629-1G>A Single submitter Fanconi anemia complementation group J
c.1629-2A>G Single submitter hereditary neoplastic syndrome
c.1629-7_1642del Single submitter hereditary breast carcinoma
c.1794+2T>C Single submitter hereditary breast carcinoma
c.1794+2T>G Single submitter hereditary breast carcinoma
c.1795-2del Single submitter hereditary breast carcinoma
c.1935+1G>A Single submitter Fanconi anemia complementation group J
c.1936-1G>C Single submitter hereditary breast carcinoma
c.205+1G>C Single submitter hereditary breast carcinoma
c.205+2T>G Single submitter hereditary breast carcinoma
c.2097+1G>T Single submitter hereditary breast carcinoma
c.2098-1G>T Single submitter hereditary neoplastic syndrome
c.2098-2A>T Single submitter Fanconi anemia complementation group J
c.2098-3_2098-1delinsAA Single submitter hereditary neoplastic syndrome
c.2098-3_2099del Single submitter hereditary neoplastic syndrome
c.2098-428_2122del Single submitter Fanconi anemia complementation group J
c.2139_2257+80del Single submitter hereditary breast carcinoma
c.2257+1G>A Single submitter hereditary breast carcinoma
c.2257+2_2257+8del Single submitter hereditary breast carcinoma
c.2257+2T>G Single submitter hereditary breast carcinoma
c.2258-2A>C Single submitter hereditary breast carcinoma
c.2258-2A>G Single submitter Fanconi anemia
c.2258-2A>T Single submitter hereditary breast carcinoma
c.2379+2T>A Single submitter hereditary breast carcinoma
c.2492+1G>A Single submitter hereditary neoplastic syndrome
c.2492+1G>T Single submitter Fanconi anemia complementation group J
c.2493-12_2505del Single submitter hereditary neoplastic syndrome
c.2493-?_2575+?dup Single submitter Fanconi anemia complementation group J
c.2493-3_2493-1del Single submitter hereditary breast carcinoma
c.2576-2A>C Single submitter hereditary breast carcinoma
c.2905+2T>C Single submitter hereditary neoplastic syndrome
c.2906-2del Single submitter
c.379+1del Single submitter hereditary neoplastic syndrome
c.380-1G>A Single submitter Fanconi anemia complementation group J
c.380-1G>C Single submitter hereditary breast carcinoma
c.380-1G>T Single submitter
c.380-2A>G Single submitter hereditary neoplastic syndrome
c.463_464insALU Single submitter hereditary neoplastic syndrome
c.505_506insAlu Single submitter hereditary breast carcinoma
c.507+1del Single submitter hereditary breast carcinoma
c.507+2T>A Single submitter Fanconi anemia complementation group J
c.507+2T>C Single submitter hereditary breast carcinoma
c.577_578insALU Single submitter hereditary neoplastic syndrome
c.(627+1_628-1 Single submitter hereditary neoplastic syndrome
c.628-1G>A Single submitter hereditary breast carcinoma
c.628-1G>T Single submitter hereditary breast carcinoma
c.628-2_628-1insACATTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGTTTCTCTACATCCTCTCCAGCTTCTGTTGTTTCCTGACTGTTTAATGATCACCATTCTAACTGGTGTGAGAG Single submitter hereditary breast carcinoma
c.628-2A>T Single submitter hereditary breast carcinoma
c.628-3C>G Single submitter hereditary neoplastic syndrome
c.628-4_628-2delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGTTTCTCTACATCCTCTCCAGCTTCTGTTGTTTCCTGACTGTTTAATGATCACCATTCTAACTGGTGTGAGAG Single submitter Fanconi anemia complementation group J
c.90_93+4del Single submitter hereditary neoplastic syndrome
c.918+2790_1121del Single submitter hereditary breast carcinoma
c.918+4A>T Single submitter hereditary neoplastic syndrome
c.919-?_1140+?del Single submitter hereditary breast carcinoma
c.94-2A>G Single submitter hereditary neoplastic syndrome
p.Ala135fs Single submitter hereditary breast carcinoma
p.Arg171fs Single submitter hereditary breast carcinoma
p.Arg378fs Single submitter hereditary breast carcinoma
p.Arg777fs Single submitter hereditary neoplastic syndrome
p.Arg999Ter Single submitter Fanconi anemia complementation group J
p.Asp1102fs Single submitter hereditary neoplastic syndrome
p.Asp1120_Phe1121insTer Single submitter hereditary neoplastic syndrome
p.Asp847del Single submitter Fanconi anemia complementation group J
p.Gln255His Single submitter familial ovarian cancer
p.Gln554fs Single submitter hereditary breast carcinoma
p.Gln799Ter Single submitter hereditary breast carcinoma
p.Glu228fs Single submitter hereditary breast carcinoma
p.Glu671fs Single submitter Breast and/or ovarian cancer
p.Glu981Ter Single submitter hereditary neoplastic syndrome
p.Gly103Ter Single submitter
p.Ile1074fs Single submitter hereditary neoplastic syndrome
p.Ile243Val Single submitter hereditary neoplastic syndrome ⚠
p.Leu43Ter Single submitter hereditary neoplastic syndrome
p.Lys20Ter Single submitter hereditary breast carcinoma
p.Lys240fs Single submitter hereditary breast carcinoma
p.Lys305Ter Single submitter hereditary breast carcinoma
p.Lys577Ter Single submitter hereditary breast carcinoma
p.Pro812fs Single submitter Fanconi anemia complementation group J
p.Ser1070fs Single submitter hereditary neoplastic syndrome
p.Ser1109Ter Single submitter Fanconi anemia complementation group J
p.Ser31fs Single submitter hereditary neoplastic syndrome
p.Thr266Lys Single submitter ovarian cancer
p.Trp5fs Single submitter familial ovarian cancer
p.Val1000fs Single submitter hereditary neoplastic syndrome
p.Val1046fs Single submitter Fanconi anemia complementation group J
p.Val598= Single submitter hereditary breast ovarian cancer syndrome
p.Val629fs Single submitter hereditary neoplastic syndrome
c.918+2_918+3del No assertion criteria breast carcinoma
p.Cys401fs No assertion criteria breast carcinoma
p.Gln793His No assertion criteria ovarian neoplasm

Conflicting classifications of pathogenicity 415

Showing the top 300 by review status; the full set is in the sitemap.

c.1140+11G>A Single submitter hereditary breast ovarian cancer syndrome
c.1140+3del Single submitter hereditary neoplastic syndrome
c.1140+3G>A Single submitter hereditary neoplastic syndrome
c.1140+7A>G Single submitter Fanconi anemia complementation group J
c.1140+9A>G Single submitter familial ovarian cancer
c.1141-3T>C Single submitter hereditary neoplastic syndrome
c.1141-9A>G Single submitter hereditary neoplastic syndrome
c.1141-9A>T Single submitter hereditary breast carcinoma
c.1340+5G>C Single submitter hereditary neoplastic syndrome
c.1340+7_1340+9del Single submitter hereditary breast carcinoma
c.1340+9A>T Single submitter hereditary breast carcinoma
c.1341-17_1341-13del Single submitter hereditary breast carcinoma
c.1341-3C>G Single submitter hereditary neoplastic syndrome
c.1341-8_1341-4del Single submitter Fanconi anemia complementation group J
c.1341-8del Single submitter hereditary neoplastic syndrome
c.1473+3A>G Single submitter Fanconi anemia complementation group J
c.1473+4_1473+8del Single submitter hereditary neoplastic syndrome
c.1473+6A>G Single submitter hereditary neoplastic syndrome
c.1474-10T>C Single submitter Fanconi anemia complementation group J
c.1474-14G>A Single submitter Fanconi anemia complementation group J
c.1474-3T>C Single submitter Fanconi anemia complementation group J
c.1474-7C>A Single submitter hereditary breast carcinoma
c.1628+11A>G Single submitter Fanconi anemia complementation group J
c.1628+15C>T Single submitter hereditary breast carcinoma
c.1629-11T>C Single submitter hereditary breast carcinoma
c.1629-11T>G Single submitter hereditary neoplastic syndrome
c.1629-3T>C Single submitter hereditary breast carcinoma
c.1629-498A>T Single submitter Fanconi anemia complementation group J
c.1629-4C>A Single submitter Breast and/or ovarian cancer
c.1794+6C>T Single submitter hereditary breast carcinoma
c.1795-12_1795-10del Single submitter familial ovarian cancer
c.1795-17A>G Single submitter hereditary breast carcinoma
c.1795-3T>G Single submitter Fanconi anemia complementation group J
c.1795-5T>C Single submitter Fanconi anemia complementation group J
c.1795-9T>G Single submitter hereditary neoplastic syndrome
c.1936-5T>A Single submitter hereditary neoplastic syndrome
c.1936-7A>G Single submitter hereditary neoplastic syndrome
c.205+3A>G Single submitter hereditary neoplastic syndrome
c.205+5G>A Single submitter Fanconi anemia complementation group J
c.205+5G>T Single submitter Fanconi anemia complementation group J
c.205+6T>C Single submitter hereditary neoplastic syndrome
c.206-1G>T Single submitter hereditary neoplastic syndrome ⚠
c.206-2A>G Single submitter hereditary neoplastic syndrome ⚠
c.2097+1G>C Single submitter hereditary breast carcinoma ⚠
c.2097+2T>A Single submitter hereditary breast carcinoma ⚠
c.2097+7G>A Single submitter Breast and/or ovarian cancer
c.2098-13T>G Single submitter hereditary neoplastic syndrome
c.2257+5C>T Single submitter hereditary neoplastic syndrome
c.2257+6_2257+7del Single submitter hereditary neoplastic syndrome
c.2258-3A>G Single submitter hereditary neoplastic syndrome
c.2379+4G>A Single submitter hereditary breast carcinoma
c.2380-3T>A Single submitter hereditary neoplastic syndrome
c.2380-4T>C Single submitter hereditary neoplastic syndrome
c.2493-10dup Single submitter hereditary neoplastic syndrome
c.2493-10T>A Single submitter Fanconi anemia complementation group J
c.2493-11A>G Single submitter Fanconi anemia complementation group J
c.2493-4C>G Single submitter hereditary breast carcinoma
c.2575+2dup Single submitter hereditary neoplastic syndrome ⚠
c.2575+6A>G Single submitter Fanconi anemia complementation group J
c.2576-17T>C Single submitter hereditary neoplastic syndrome
c.2576-3T>C Single submitter hereditary breast carcinoma
c.2905+2T>A Single submitter hereditary breast carcinoma ⚠
c.2905+3A>G Single submitter hereditary breast carcinoma
c.2905+3A>T Single submitter hereditary breast carcinoma
c.2905+4T>A Single submitter hereditary neoplastic syndrome
c.2905+4T>C Single submitter familial ovarian cancer
c.2906-1G>A Single submitter hereditary breast carcinoma ⚠
c.2906-5C>T Single submitter Fanconi anemia complementation group J
c.2906-7T>C Single submitter hereditary neoplastic syndrome
c.379+4_379+5del Single submitter hereditary breast carcinoma
c.380-17T>A Single submitter Breast and/or ovarian cancer
c.380-5A>G Single submitter BRIP1-related disorder
c.380-6T>C Single submitter hereditary breast carcinoma
c.380-7A>G Single submitter hereditary neoplastic syndrome
c.380-9T>C Single submitter Fanconi anemia complementation group J
c.507+16T>C Single submitter hereditary breast carcinoma
c.627+5G>A Single submitter hereditary neoplastic syndrome
c.627+7A>G Single submitter hereditary neoplastic syndrome
c.628-10T>A Single submitter Fanconi anemia complementation group J
c.628-15dup Single submitter hereditary neoplastic syndrome
c.919-10T>G Single submitter Fanconi anemia complementation group J
c.919-3T>C Single submitter hereditary neoplastic syndrome
c.93+15G>A Single submitter hereditary neoplastic syndrome
c.93+2dup Single submitter hereditary neoplastic syndrome ⚠
c.93+4_93+7del Single submitter hereditary neoplastic syndrome
c.93+5G>A Single submitter hereditary neoplastic syndrome
c.93+5G>C Single submitter hereditary neoplastic syndrome
c.93+8T>G Single submitter hereditary breast carcinoma
c.-30-3T>C Single submitter hereditary neoplastic syndrome
c.-30-9C>T Single submitter hereditary neoplastic syndrome
c.-38C>T Single submitter Fanconi anemia complementation group J
c.-5G>A Single submitter hereditary neoplastic syndrome
c.-6A>C Single submitter hereditary neoplastic syndrome
c.-9G>C Single submitter hereditary neoplastic syndrome
c.*128A>G Single submitter Fanconi anemia complementation group J
c.*3489T>C Single submitter Fanconi anemia complementation group J
c.*4040T>A Single submitter Fanconi anemia complementation group J
c.*6C>G Single submitter hereditary neoplastic syndrome
p.Ala1030Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1081fs Single submitter hereditary breast carcinoma ⚠
p.Ala1098Asp Single submitter hereditary neoplastic syndrome ⚠
p.Ala1098Ser Single submitter hereditary breast carcinoma ⚠
p.Ala1098Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1159Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1182Val Single submitter Fanconi anemia complementation group J ⚠
p.Ala1187Thr Single submitter Breast and/or ovarian cancer ⚠
p.Ala185Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala185Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala349Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala451= Single submitter hereditary neoplastic syndrome
p.Ala453Thr Single submitter familial ovarian cancer ⚠
p.Ala745Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala824= Single submitter hereditary neoplastic syndrome
p.Ala926Thr Single submitter Fanconi anemia complementation group J ⚠
p.Ala980Val Single submitter hereditary neoplastic syndrome ⚠
p.Arg1035Cys Single submitter Breast and/or ovarian cancer ⚠
p.Arg1035His Single submitter hereditary neoplastic syndrome ⚠
p.Arg106Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg106His Single submitter Breast and/or ovarian cancer ⚠
p.Arg1154Gly Single submitter hereditary breast carcinoma ⚠
p.Arg162Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg162Leu Single submitter hereditary neoplastic syndrome ⚠
p.Arg173Cys Single submitter Breast and/or ovarian cancer ⚠
p.Arg216= Single submitter Fanconi anemia complementation group J
p.Arg264Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg264Trp Single submitter Breast and/or ovarian cancer ⚠
p.Arg416Trp Single submitter hereditary neoplastic syndrome ⚠
p.Arg419= Single submitter hereditary neoplastic syndrome
p.Arg419Trp Single submitter Breast and/or ovarian cancer ⚠
p.Arg579Cys Single submitter Fanconi anemia complementation group J ⚠
p.Arg579His Single submitter hereditary neoplastic syndrome ⚠
p.Arg581Gln Single submitter Breast and/or ovarian cancer ⚠
p.Arg814Cys Single submitter Breast and/or ovarian cancer ⚠
p.Arg814His Single submitter familial ovarian cancer ⚠
p.Arg823Gly Single submitter hereditary breast carcinoma ⚠
p.Arg848His Single submitter hereditary breast carcinoma ⚠
p.Arg965= Single submitter hereditary neoplastic syndrome
p.Asn101Lys Single submitter Fanconi anemia complementation group J ⚠
p.Asn1057Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn1087fs Single submitter Fanconi anemia complementation group J ⚠
p.Asn1087Lys Single submitter hereditary breast carcinoma ⚠
p.Asn1087Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn109Asp Single submitter hereditary neoplastic syndrome ⚠
p.Asn109Ser Single submitter BRIP1-related disorder ⚠
p.Asn1118fs Single submitter Fanconi anemia complementation group J ⚠
p.Asn1160Asp Single submitter hereditary neoplastic syndrome ⚠
p.Asn119Lys Single submitter hereditary breast carcinoma ⚠
p.Asn119Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn182His Single submitter hereditary neoplastic syndrome ⚠
p.Asn196Lys Single submitter Hereditary cancer ⚠
p.Asn196Ser Single submitter Breast and/or ovarian cancer ⚠
p.Asn293Ser Single submitter familial ovarian cancer ⚠
p.Asn428Thr Single submitter hereditary neoplastic syndrome ⚠
p.Asn452= Single submitter hereditary neoplastic syndrome
p.Asn471Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn568Lys Single submitter Fanconi anemia complementation group J ⚠
p.Asn775Ser Single submitter familial ovarian cancer ⚠
p.Asn851Ser Single submitter hereditary breast carcinoma ⚠
p.Asn852Asp Single submitter Fanconi anemia complementation group J ⚠
p.Asn905Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn955His Single submitter hereditary neoplastic syndrome ⚠
p.Asn969= Single submitter hereditary neoplastic syndrome
p.Asn969Ser Single submitter hereditary breast carcinoma ⚠
p.Asn98Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn994Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asp1100Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp1141Ala Single submitter hereditary neoplastic syndrome ⚠
p.Asp1143Asn Single submitter hereditary breast carcinoma ⚠
p.Asp1148Glu Single submitter hereditary neoplastic syndrome ⚠
p.Asp1153= Single submitter Breast and/or ovarian cancer
p.Asp1189= Single submitter hereditary neoplastic syndrome
p.Asp149Gly Single submitter hereditary neoplastic syndrome ⚠
p.Asp184Asn Single submitter hereditary breast carcinoma ⚠
p.Asp184Tyr Single submitter familial ovarian cancer ⚠
p.Asp563Gly Single submitter hereditary neoplastic syndrome ⚠
p.Asp770= Single submitter hereditary neoplastic syndrome
p.Asp846= Single submitter hereditary breast carcinoma
p.Asp937= Single submitter Breast and/or ovarian cancer
p.Asp99Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp99Glu Single submitter Fanconi anemia complementation group J ⚠
p.Cys218Tyr Single submitter hereditary breast carcinoma ⚠
p.Cys443Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Cys87Ser Single submitter hereditary breast carcinoma ⚠
p.Cys90= Single submitter hereditary breast carcinoma
p.Cys942Arg Single submitter hereditary breast carcinoma ⚠
p.Gln102Arg Single submitter familial ovarian cancer ⚠
p.Gln1114Pro Single submitter hereditary breast carcinoma ⚠
p.Gln155= Single submitter hereditary neoplastic syndrome
p.Gln168= Single submitter hereditary neoplastic syndrome
p.Gln227Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gln499= Single submitter hereditary neoplastic syndrome
p.Gln540Leu Single submitter hereditary breast carcinoma ⚠
p.Gln554Arg Single submitter hereditary breast carcinoma ⚠
p.Gln673= Single submitter hereditary neoplastic syndrome
p.Gln740His Single submitter Hereditary cancer ⚠
p.Gln83= Single submitter hereditary neoplastic syndrome
p.Gln903Lys Single submitter hereditary neoplastic syndrome ⚠
p.Gln944Glu Single submitter Breast and/or ovarian cancer ⚠
p.Glu1022Lys Single submitter hereditary breast carcinoma ⚠
p.Glu1027Ala Single submitter hereditary neoplastic syndrome ⚠
p.Glu1027Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu1110Lys Single submitter hereditary breast carcinoma ⚠
p.Glu1110Ter Single submitter hereditary neoplastic syndrome ⚠
p.Glu1111Gln Single submitter hereditary breast carcinoma ⚠
p.Glu1124fs Single submitter hereditary neoplastic syndrome ⚠
p.Glu1124Gly Single submitter hereditary neoplastic syndrome ⚠
p.Glu1126Asp Single submitter hereditary neoplastic syndrome ⚠
p.Glu1144Gly Single submitter familial ovarian cancer ⚠
p.Glu1178Gly Single submitter hereditary breast carcinoma ⚠
p.Glu1202Gly Single submitter hereditary neoplastic syndrome ⚠
p.Glu179= Single submitter hereditary neoplastic syndrome
p.Glu394= Single submitter hereditary breast carcinoma
p.Glu626Asp Single submitter hereditary breast carcinoma ⚠
p.Glu967fs Single submitter hereditary breast carcinoma ⚠
p.Gly1009Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gly1009Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gly1014= Single submitter hereditary neoplastic syndrome
p.Gly1024Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gly1155Glu Single submitter familial ovarian cancer ⚠
p.Gly12= Single submitter Breast and/or ovarian cancer
p.Gly1211Ser Single submitter hereditary neoplastic syndrome ⚠
p.Gly1247Ser Single submitter hereditary neoplastic syndrome ⚠
p.Gly224= Single submitter Fanconi anemia complementation group J
p.Gly290Ser Single submitter hereditary neoplastic syndrome ⚠
p.Gly315= Single submitter hereditary neoplastic syndrome
p.Gly481Asp Single submitter hereditary breast carcinoma ⚠
p.Gly859Arg Single submitter Fanconi anemia complementation group J ⚠
p.His1088Tyr Single submitter hereditary neoplastic syndrome ⚠
p.His1091Arg Single submitter hereditary neoplastic syndrome ⚠
p.His181Gln Single submitter hereditary neoplastic syndrome ⚠
p.His213Arg Single submitter hereditary breast carcinoma ⚠
p.His285Arg Single submitter hereditary breast carcinoma ⚠
p.His396Arg Single submitter hereditary neoplastic syndrome ⚠
p.His396Asp Single submitter hereditary neoplastic syndrome ⚠
p.His478Tyr Single submitter familial ovarian cancer ⚠
p.His587= Single submitter hereditary neoplastic syndrome
p.His587Arg Single submitter hereditary neoplastic syndrome ⚠
p.His587Leu Single submitter Fanconi anemia complementation group J ⚠
p.His639= Single submitter hereditary breast carcinoma
p.Ile1074Thr Single submitter Fanconi anemia complementation group J ⚠
p.Ile1079= Single submitter hereditary neoplastic syndrome
p.Ile1079delinsThrLeuPheHisHisTer Single submitter hereditary breast carcinoma ⚠
p.Ile1079Met Single submitter hereditary neoplastic syndrome ⚠
p.Ile1079Thr Single submitter Inherited ovarian cancer (without breast cancer) ⚠
p.Ile1176Met Single submitter hereditary neoplastic syndrome ⚠
p.Ile1191Thr Single submitter Fanconi anemia complementation group J ⚠
p.Ile1191Val Single submitter familial ovarian cancer ⚠
p.Ile1229Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ile1231Met Single submitter hereditary neoplastic syndrome ⚠
p.Ile146Val Single submitter Fanconi anemia complementation group J ⚠
p.Ile243Thr Single submitter Hereditary cancer ⚠
p.Ile246Val Single submitter hereditary neoplastic syndrome ⚠
p.Ile275Val Single submitter Breast and/or ovarian cancer ⚠
p.Ile359Met Single submitter hereditary neoplastic syndrome ⚠
p.Ile364= Single submitter hereditary neoplastic syndrome
p.Ile365Val Single submitter hereditary breast carcinoma ⚠
p.Ile550Met Single submitter BRIP1-related disorder ⚠
p.Ile562Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ile562Val Single submitter familial ovarian cancer ⚠
p.Ile564Thr Single submitter Fanconi anemia complementation group J ⚠
p.Ile603= Single submitter hereditary breast carcinoma
p.Ile633Leu Single submitter hereditary neoplastic syndrome ⚠
p.Ile633Val Single submitter Fanconi anemia complementation group J ⚠
p.Ile651= Single submitter hereditary breast carcinoma
p.Ile651Val Single submitter hereditary neoplastic syndrome ⚠
p.Ile896Val Single submitter hereditary neoplastic syndrome ⚠
p.Ile902Met Single submitter hereditary neoplastic syndrome ⚠
p.Ile902Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ile952Val Single submitter familial ovarian cancer ⚠
p.Ile962Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ile962Val Single submitter hereditary neoplastic syndrome ⚠
p.Ile983Asn Single submitter familial ovarian cancer ⚠
p.Ile983fs Single submitter hereditary neoplastic syndrome ⚠
p.Ile983Thr Single submitter hereditary neoplastic syndrome ⚠
p.Leu1077Ter Single submitter Fanconi anemia complementation group J ⚠
p.Leu1093Phe Single submitter Fanconi anemia complementation group J ⚠
p.Leu1105Phe Single submitter hereditary breast carcinoma ⚠
p.Leu1107Pro Single submitter hereditary neoplastic syndrome ⚠
p.Leu1170Val Single submitter hereditary neoplastic syndrome ⚠
p.Leu1221Val Single submitter Fanconi anemia complementation group J ⚠
p.Leu134Met Single submitter familial ovarian cancer ⚠
p.Leu340Phe Single submitter Fanconi anemia complementation group J ⚠
p.Leu456= Single submitter hereditary neoplastic syndrome
p.Leu537His Single submitter hereditary neoplastic syndrome ⚠
p.Leu719= Single submitter hereditary neoplastic syndrome
p.Leu844= Single submitter hereditary neoplastic syndrome
p.Leu929fs Single submitter hereditary breast carcinoma ⚠
p.Leu958= Single submitter hereditary neoplastic syndrome
p.Leu958Gln Single submitter hereditary breast carcinoma ⚠
p.Leu974fs Single submitter hereditary neoplastic syndrome ⚠
p.Lys1052Glu Single submitter hereditary neoplastic syndrome ⚠
p.Lys1078Ter Single submitter hereditary neoplastic syndrome ⚠
p.Lys1113Glu Single submitter hereditary breast carcinoma ⚠
p.Lys1177Gln Single submitter hereditary breast carcinoma ⚠
p.Lys131Asn Single submitter hereditary neoplastic syndrome ⚠
p.Lys209= Single submitter Fanconi anemia complementation group J
p.Lys209Arg Single submitter Fanconi anemia complementation group J ⚠
p.Lys242Arg Single submitter Fanconi anemia complementation group J ⚠
p.Lys297Arg Single submitter Breast and/or ovarian cancer ⚠
p.Lys575= Single submitter Fanconi anemia complementation group J

Benign 110

c.1340+109G>A Multiple submitters hereditary breast ovarian cancer syndrome
c.1795-47G>C Multiple submitters hereditary neoplastic syndrome
c.2098-84C>T Multiple submitters
c.2492+80A>G Multiple submitters hereditary breast ovarian cancer syndrome
c.2905+83T>A Multiple submitters hereditary breast ovarian cancer syndrome
c.507+67T>C Multiple submitters hereditary breast ovarian cancer syndrome
c.508-31C>G Multiple submitters hereditary neoplastic syndrome
c.93+72T>G Multiple submitters hereditary breast ovarian cancer syndrome
c.94-18T>G Multiple submitters hereditary breast ovarian cancer syndrome
c.-205G>A Multiple submitters hereditary neoplastic syndrome
c.-30-71C>T Multiple submitters
c.-30-88C>T Multiple submitters
c.-31+12G>A Multiple submitters hereditary neoplastic syndrome
c.*158T>C Multiple submitters Fanconi anemia complementation group J
c.*483C>T Multiple submitters Fanconi anemia complementation group J
p.Glu879= Multiple submitters hereditary neoplastic syndrome
p.Ser919Pro Multiple submitters hereditary neoplastic syndrome
p.Tyr1137= Multiple submitters hereditary neoplastic syndrome
c.1140+198C>G Single submitter
c.1140+84dup Single submitter
c.1140+92_1140+93insT Single submitter
c.1141-126_1141-125del Single submitter
c.1141-237C>T Single submitter
c.1473+14del Single submitter hereditary breast carcinoma
c.1474-297C>T Single submitter
c.1474-314C>T Single submitter
c.1935+22dup Single submitter
c.206-270T>C Single submitter
c.206-287C>G Single submitter
c.2257+34del Single submitter hereditary breast ovarian cancer syndrome
c.2257+42del Single submitter hereditary breast ovarian cancer syndrome
c.2379+204G>T Single submitter
c.2379+230C>G Single submitter
c.2379+306C>T Single submitter
c.2380-11dup Single submitter Fanconi anemia complementation group J
c.2906-205T>C Single submitter
c.379+10dup Single submitter hereditary breast carcinoma
c.380-18_380-17dup Single submitter hereditary breast carcinoma
c.380-226dup Single submitter
c.508-281A>G Single submitter
c.628-192A>G Single submitter
c.918+17del Single submitter Fanconi anemia complementation group J
c.-31+3A>G Single submitter
c.-38C>G Single submitter
c.-41C>T Single submitter
c.*1263A>G Single submitter Fanconi anemia complementation group J
c.*1374T>C Single submitter Fanconi anemia complementation group J
c.*1820C>T Single submitter Fanconi anemia complementation group J
c.*2241T>C Single submitter Fanconi anemia complementation group J
c.*2538G>A Single submitter Fanconi anemia complementation group J
c.*280G>C Single submitter Fanconi anemia complementation group J
c.*3450T>C Single submitter Fanconi anemia complementation group J
c.*3488A>T Single submitter Fanconi anemia complementation group J
c.*3514T>G Single submitter Fanconi anemia complementation group J
c.*4000T>C Single submitter Fanconi anemia complementation group J
c.*616A>G Single submitter Fanconi anemia complementation group J
p.Ala1030= Single submitter hereditary breast carcinoma
p.Ala135= Single submitter hereditary breast carcinoma
p.Ala27= Single submitter hereditary breast carcinoma
p.Arg160= Single submitter hereditary breast carcinoma
p.Arg416= Single submitter hereditary breast carcinoma
p.Asn1057= Single submitter hereditary breast carcinoma
p.Asn182= Single submitter hereditary breast carcinoma
p.Asn568= Single submitter hereditary breast carcinoma
p.Asn901= Single submitter hereditary breast carcinoma
p.Cys367= Single submitter hereditary breast carcinoma
p.Glu287= Single submitter hereditary breast carcinoma
p.Glu450= Single submitter hereditary breast carcinoma
p.Glu515= Single submitter hereditary breast carcinoma
p.Glu668= Single submitter hereditary breast carcinoma
p.Glu726= Single submitter hereditary breast carcinoma
p.Glu81= Single submitter hereditary breast carcinoma
p.Glu818= Single submitter hereditary breast carcinoma
p.Glu879_Ser880= Single submitter hereditary breast carcinoma
p.Gly11= Single submitter hereditary breast carcinoma
p.Gly1243= Single submitter hereditary breast carcinoma
p.His1091= Single submitter hereditary breast carcinoma
p.His478= Single submitter hereditary breast carcinoma
p.Ile15= Single submitter hereditary breast carcinoma
p.Leu1199= Single submitter hereditary breast carcinoma
p.Leu33= Single submitter hereditary breast carcinoma
p.Leu445= Single submitter hereditary breast carcinoma
p.Leu757= Single submitter hereditary breast carcinoma
p.Leu769= Single submitter hereditary breast carcinoma
p.Leu878_Glu879= Single submitter hereditary breast carcinoma
p.Leu929= Single submitter hereditary breast carcinoma
p.Leu974= Single submitter hereditary breast carcinoma
p.Lys1052= Single submitter hereditary breast carcinoma
p.Lys1113= Single submitter hereditary breast carcinoma
p.Lys137= Single submitter hereditary breast carcinoma
p.Phe292= Single submitter hereditary breast carcinoma
p.Phe664= Single submitter hereditary breast carcinoma
p.Phe786= Single submitter hereditary breast carcinoma
p.Phe973= Single submitter hereditary breast carcinoma
p.Pro931= Single submitter hereditary breast carcinoma
p.Ser1070= Single submitter hereditary breast carcinoma
p.Ser46= Single submitter hereditary breast carcinoma
p.Ser520= Single submitter hereditary breast carcinoma
p.Ser557= Single submitter hereditary breast carcinoma
p.Ser77= Single submitter hereditary breast carcinoma
p.Ser919Thr Single submitter
p.Thr166= Single submitter hereditary breast carcinoma
p.Thr484= Single submitter hereditary breast carcinoma
p.Thr555= Single submitter hereditary breast carcinoma
p.Thr669= Single submitter hereditary breast carcinoma
p.Val180= Single submitter hereditary breast carcinoma
p.Val426= Single submitter hereditary breast carcinoma
p.Val516= Single submitter hereditary breast carcinoma
p.Val779= Single submitter hereditary breast carcinoma
p.Val894= Single submitter hereditary breast carcinoma

Benign/Likely benign 468

Showing the top 300 by review status; the full set is in the sitemap.

c.1341-20del Multiple submitters hereditary breast carcinoma
c.1473+14dup Multiple submitters hereditary breast carcinoma
c.1935+11G>A Multiple submitters hereditary neoplastic syndrome
c.1935+14T>G Multiple submitters Fanconi anemia complementation group J
c.1935+5GTT[2] Multiple submitters familial ovarian cancer
c.1935+7T>C Multiple submitters familial ovarian cancer
c.1936-44C>A Multiple submitters hereditary breast ovarian cancer syndrome
c.206-21T>C Multiple submitters hereditary breast ovarian cancer syndrome
c.2097+8A>C Multiple submitters hereditary breast carcinoma
c.2098-16del Multiple submitters hereditary neoplastic syndrome
c.2098-22dup Multiple submitters hereditary breast carcinoma
c.2098-22T>C Multiple submitters hereditary breast ovarian cancer syndrome
c.2257+17T>C Multiple submitters hereditary neoplastic syndrome
c.2257+19A>C Multiple submitters hereditary neoplastic syndrome
c.2258-13dup Multiple submitters hereditary breast carcinoma
c.2379+3737A>C Multiple submitters
c.2576-8T>C Multiple submitters hereditary neoplastic syndrome
c.380-17del Multiple submitters Fanconi anemia complementation group J
c.380-17dup Multiple submitters Breast and/or ovarian cancer
c.380-28G>A Multiple submitters hereditary breast ovarian cancer syndrome
c.508-8G>A Multiple submitters Fanconi anemia complementation group J
c.918+15T>A Multiple submitters Breast and/or ovarian cancer
c.-197C>A Multiple submitters Fanconi anemia complementation group J
c.*172G>C Multiple submitters Fanconi anemia complementation group J
c.*2090G>C Multiple submitters Fanconi anemia complementation group J
p.Ala1081= Multiple submitters Breast and/or ovarian cancer
p.Ala1098= Multiple submitters hereditary breast carcinoma
p.Ala1182= Multiple submitters hereditary neoplastic syndrome
p.Ala144= Multiple submitters hereditary neoplastic syndrome
p.Ala144Thr Multiple submitters hereditary neoplastic syndrome
p.Ala334= Multiple submitters hereditary neoplastic syndrome
p.Ala402= Multiple submitters hereditary neoplastic syndrome
p.Ala440= Multiple submitters Fanconi anemia complementation group J
p.Ala485= Multiple submitters hereditary neoplastic syndrome
p.Ala55= Multiple submitters hereditary neoplastic syndrome
p.Ala551= Multiple submitters hereditary neoplastic syndrome
p.Ala597= Multiple submitters hereditary neoplastic syndrome
p.Ala599= Multiple submitters Fanconi anemia complementation group J
p.Ala62= Multiple submitters hereditary neoplastic syndrome
p.Ala637= Multiple submitters hereditary breast carcinoma
p.Ala662= Multiple submitters hereditary neoplastic syndrome
p.Ala72= Multiple submitters hereditary neoplastic syndrome
p.Ala755= Multiple submitters hereditary neoplastic syndrome
p.Ala776= Multiple submitters hereditary breast carcinoma
p.Ala80= Multiple submitters hereditary breast carcinoma
p.Ala828= Multiple submitters hereditary breast carcinoma
p.Ala877= Multiple submitters hereditary neoplastic syndrome
p.Ala882= Multiple submitters hereditary neoplastic syndrome
p.Ala89= Multiple submitters hereditary breast carcinoma
p.Ala925= Multiple submitters Fanconi anemia complementation group J
p.Ala939= Multiple submitters hereditary breast carcinoma
p.Ala980= Multiple submitters hereditary neoplastic syndrome
p.Arg106= Multiple submitters hereditary breast carcinoma
p.Arg1119= Multiple submitters Fanconi anemia complementation group J
p.Arg251= Multiple submitters hereditary neoplastic syndrome
p.Arg265= Multiple submitters hereditary neoplastic syndrome
p.Arg279= Multiple submitters hereditary breast carcinoma
p.Arg403= Multiple submitters Fanconi anemia complementation group J
p.Arg431= Multiple submitters Fanconi anemia complementation group J
p.Arg439= Multiple submitters hereditary neoplastic syndrome
p.Arg514= Multiple submitters hereditary breast carcinoma
p.Arg707= Multiple submitters hereditary breast carcinoma
p.Arg762= Multiple submitters Breast and/or ovarian cancer
p.Arg865= Multiple submitters hereditary neoplastic syndrome
p.Asn1006= Multiple submitters Fanconi anemia complementation group J
p.Asn101= Multiple submitters hereditary neoplastic syndrome
p.Asn1028= Multiple submitters familial ovarian cancer
p.Asn1061= Multiple submitters hereditary neoplastic syndrome
p.Asn1087= Multiple submitters hereditary neoplastic syndrome
p.Asn1118= Multiple submitters hereditary neoplastic syndrome
p.Asn1147= Multiple submitters hereditary breast carcinoma
p.Asn1156= Multiple submitters hereditary breast carcinoma
p.Asn1160= Multiple submitters hereditary breast carcinoma
p.Asn119= Multiple submitters hereditary breast carcinoma
p.Asn1196= Multiple submitters hereditary breast carcinoma
p.Asn1212= Multiple submitters hereditary neoplastic syndrome
p.Asn151= Multiple submitters hereditary neoplastic syndrome
p.Asn196= Multiple submitters hereditary neoplastic syndrome
p.Asn231= Multiple submitters hereditary neoplastic syndrome
p.Asn295= Multiple submitters hereditary breast carcinoma
p.Asn37= Multiple submitters hereditary neoplastic syndrome
p.Asn384= Multiple submitters hereditary breast carcinoma
p.Asn397= Multiple submitters hereditary neoplastic syndrome
p.Asn429= Multiple submitters hereditary neoplastic syndrome
p.Asn590= Multiple submitters hereditary neoplastic syndrome
p.Asn595= Multiple submitters hereditary neoplastic syndrome
p.Asn638= Multiple submitters hereditary breast carcinoma
p.Asn666= Multiple submitters hereditary neoplastic syndrome
p.Asn716= Multiple submitters hereditary breast carcinoma
p.Asn788= Multiple submitters hereditary breast carcinoma
p.Asn801= Multiple submitters hereditary neoplastic syndrome
p.Asn826= Multiple submitters hereditary neoplastic syndrome
p.Asn852= Multiple submitters hereditary neoplastic syndrome
p.Asn893= Multiple submitters hereditary neoplastic syndrome
p.Asn97= Multiple submitters hereditary neoplastic syndrome
p.Asn98= Multiple submitters Fanconi anemia complementation group J
p.Asp1080= Multiple submitters hereditary breast carcinoma
p.Asp1102= Multiple submitters hereditary neoplastic syndrome
p.Asp1112= Multiple submitters hereditary neoplastic syndrome
p.Asp1120= Multiple submitters Fanconi anemia complementation group J
p.Asp1127= Multiple submitters hereditary breast carcinoma
p.Asp1143= Multiple submitters hereditary breast carcinoma
p.Asp1148= Multiple submitters hereditary breast carcinoma
p.Asp1163= Multiple submitters Fanconi anemia complementation group J
p.Asp1169= Multiple submitters hereditary neoplastic syndrome
p.Asp1208= Multiple submitters hereditary breast carcinoma
p.Asp1210= Multiple submitters hereditary breast carcinoma
p.Asp361= Multiple submitters hereditary neoplastic syndrome
p.Asp363= Multiple submitters hereditary neoplastic syndrome
p.Asp420= Multiple submitters hereditary neoplastic syndrome
p.Asp423= Multiple submitters Fanconi anemia complementation group J
p.Asp434= Multiple submitters Fanconi anemia complementation group J
p.Asp460= Multiple submitters hereditary breast carcinoma
p.Asp535= Multiple submitters hereditary breast carcinoma
p.Asp563= Multiple submitters hereditary breast carcinoma
p.Asp566= Multiple submitters hereditary neoplastic syndrome
p.Asp602= Multiple submitters hereditary breast carcinoma
p.Asp744= Multiple submitters Breast and/or ovarian cancer
p.Asp753= Multiple submitters hereditary neoplastic syndrome
p.Asp774= Multiple submitters Breast and/or ovarian cancer
p.Asp802= Multiple submitters hereditary neoplastic syndrome
p.Asp838= Multiple submitters hereditary neoplastic syndrome
p.Asp898= Multiple submitters hereditary neoplastic syndrome
p.Asp99= Multiple submitters hereditary neoplastic syndrome
p.Cys1067= Multiple submitters hereditary neoplastic syndrome
p.Cys125= Multiple submitters hereditary neoplastic syndrome
p.Cys175= Multiple submitters hereditary neoplastic syndrome
p.Cys217= Multiple submitters hereditary neoplastic syndrome
p.Cys218= Multiple submitters hereditary breast carcinoma
p.Cys219= Multiple submitters Fanconi anemia complementation group J
p.Cys298= Multiple submitters hereditary breast carcinoma
p.Cys310= Multiple submitters hereditary neoplastic syndrome
p.Cys350= Multiple submitters hereditary neoplastic syndrome
p.Cys443= Multiple submitters hereditary breast carcinoma
p.Cys593= Multiple submitters hereditary breast carcinoma
p.Cys661= Multiple submitters hereditary breast carcinoma
p.Cys693= Multiple submitters hereditary breast carcinoma
p.Cys86= Multiple submitters hereditary neoplastic syndrome
p.Gln1010= Multiple submitters hereditary breast carcinoma
p.Gln1069= Multiple submitters hereditary neoplastic syndrome
p.Gln143= Multiple submitters hereditary neoplastic syndrome
p.Gln223= Multiple submitters Fanconi anemia complementation group J
p.Gln227= Multiple submitters hereditary neoplastic syndrome
p.Gln25= Multiple submitters hereditary neoplastic syndrome
p.Gln326= Multiple submitters hereditary neoplastic syndrome
p.Gln40= Multiple submitters hereditary breast carcinoma
p.Gln414= Multiple submitters hereditary neoplastic syndrome
p.Gln540= Multiple submitters hereditary neoplastic syndrome
p.Gln553= Multiple submitters hereditary neoplastic syndrome
p.Gln64= Multiple submitters hereditary breast carcinoma
p.Gln65= Multiple submitters hereditary neoplastic syndrome
p.Gln740= Multiple submitters hereditary neoplastic syndrome
p.Gln866= Multiple submitters hereditary breast carcinoma
p.Gln869= Multiple submitters hereditary neoplastic syndrome
p.Gln889= Multiple submitters hereditary breast carcinoma
p.Gln903= Multiple submitters hereditary breast carcinoma
p.Gln947= Multiple submitters hereditary neoplastic syndrome
p.Glu1027= Multiple submitters Fanconi anemia complementation group J
p.Glu1039= Multiple submitters hereditary neoplastic syndrome
p.Glu1042= Multiple submitters hereditary breast carcinoma
p.Glu1054= Multiple submitters hereditary breast carcinoma
p.Glu1090= Multiple submitters hereditary breast carcinoma
p.Glu1097= Multiple submitters hereditary breast carcinoma
p.Glu1110= Multiple submitters hereditary neoplastic syndrome
p.Glu1126= Multiple submitters hereditary breast carcinoma
p.Glu1128= Multiple submitters hereditary breast carcinoma
p.Glu1135= Multiple submitters hereditary neoplastic syndrome
p.Glu1172= Multiple submitters hereditary neoplastic syndrome
p.Glu1184= Multiple submitters hereditary breast carcinoma
p.Glu1188= Multiple submitters hereditary neoplastic syndrome
p.Glu130= Multiple submitters hereditary breast carcinoma
p.Glu157= Multiple submitters hereditary breast carcinoma
p.Glu200= Multiple submitters hereditary breast carcinoma
p.Glu228= Multiple submitters hereditary neoplastic syndrome
p.Glu296= Multiple submitters hereditary neoplastic syndrome
p.Glu338= Multiple submitters Hereditary cancer
p.Glu357= Multiple submitters Breast and/or ovarian cancer
p.Glu387= Multiple submitters hereditary neoplastic syndrome
p.Glu399= Multiple submitters hereditary neoplastic syndrome
p.Glu421= Multiple submitters hereditary neoplastic syndrome
p.Glu454= Multiple submitters hereditary neoplastic syndrome
p.Glu501= Multiple submitters Fanconi anemia complementation group J
p.Glu502= Multiple submitters hereditary breast carcinoma
p.Glu512= Multiple submitters Fanconi anemia complementation group J
p.Glu626= Multiple submitters hereditary breast carcinoma
p.Glu636= Multiple submitters Fanconi anemia complementation group J
p.Glu718= Multiple submitters hereditary breast carcinoma
p.Glu731= Multiple submitters hereditary breast carcinoma
p.Glu737= Multiple submitters hereditary neoplastic syndrome
p.Glu74= Multiple submitters hereditary breast carcinoma
p.Glu767= Multiple submitters hereditary neoplastic syndrome
p.Glu906= Multiple submitters hereditary breast carcinoma
p.Glu924= Multiple submitters hereditary neoplastic syndrome
p.Glu945= Multiple submitters hereditary breast carcinoma
p.Gly1009= Multiple submitters hereditary neoplastic syndrome
p.Gly120= Multiple submitters hereditary neoplastic syndrome
p.Gly190= Multiple submitters hereditary breast carcinoma
p.Gly212= Multiple submitters hereditary breast carcinoma
p.Gly239= Multiple submitters hereditary neoplastic syndrome
p.Gly304= Multiple submitters hereditary neoplastic syndrome
p.Gly307= Multiple submitters hereditary breast carcinoma
p.Gly344= Multiple submitters hereditary neoplastic syndrome
p.Gly470= Multiple submitters Fanconi anemia complementation group J
p.Gly481= Multiple submitters hereditary breast carcinoma
p.Gly509= Multiple submitters hereditary breast carcinoma
p.Gly51= Multiple submitters hereditary breast carcinoma
p.Gly529= Multiple submitters hereditary neoplastic syndrome
p.Gly569= Multiple submitters hereditary neoplastic syndrome
p.Gly628= Multiple submitters Fanconi anemia complementation group J
p.Gly652= Multiple submitters Fanconi anemia complementation group J
p.Gly654= Multiple submitters hereditary breast carcinoma
p.Gly657= Multiple submitters Fanconi anemia complementation group J
p.Gly677= Multiple submitters Fanconi anemia complementation group J
p.Gly69= Multiple submitters hereditary neoplastic syndrome
p.Gly712= Multiple submitters hereditary neoplastic syndrome
p.Gly75= Multiple submitters hereditary neoplastic syndrome
p.Gly754= Multiple submitters hereditary neoplastic syndrome
p.Gly783= Multiple submitters hereditary breast carcinoma
p.Gly809= Multiple submitters hereditary neoplastic syndrome
p.Gly830= Multiple submitters hereditary breast carcinoma
p.Gly840= Multiple submitters hereditary neoplastic syndrome
p.His1200= Multiple submitters hereditary breast carcinoma
p.His1227= Multiple submitters hereditary breast carcinoma
p.His181= Multiple submitters hereditary breast carcinoma
p.His281= Multiple submitters Fanconi anemia complementation group J
p.His285= Multiple submitters hereditary neoplastic syndrome
p.His317= Multiple submitters hereditary neoplastic syndrome
p.His396= Multiple submitters hereditary neoplastic syndrome
p.His41= Multiple submitters hereditary breast carcinoma
p.His478Arg Multiple submitters hereditary neoplastic syndrome
p.His493= Multiple submitters hereditary neoplastic syndrome
p.His715= Multiple submitters hereditary neoplastic syndrome
p.His803= Multiple submitters Fanconi anemia complementation group J
p.His804= Multiple submitters Fanconi anemia complementation group J
p.His835= Multiple submitters hereditary neoplastic syndrome
p.His871= Multiple submitters hereditary breast carcinoma
p.Ile1103= Multiple submitters hereditary breast carcinoma
p.Ile1201= Multiple submitters hereditary breast carcinoma
p.Ile1206= Multiple submitters hereditary breast carcinoma
p.Ile1209= Multiple submitters hereditary breast carcinoma
p.Ile146= Multiple submitters hereditary breast carcinoma
p.Ile170= Multiple submitters hereditary breast carcinoma
p.Ile233= Multiple submitters hereditary breast carcinoma
p.Ile256= Multiple submitters hereditary neoplastic syndrome
p.Ile377= Multiple submitters hereditary neoplastic syndrome
p.Ile398= Multiple submitters hereditary neoplastic syndrome
p.Ile482= Multiple submitters hereditary breast carcinoma
p.Ile504= Multiple submitters hereditary neoplastic syndrome
p.Ile550= Multiple submitters hereditary neoplastic syndrome
p.Ile610= Multiple submitters hereditary neoplastic syndrome
p.Ile640= Multiple submitters hereditary neoplastic syndrome
p.Ile746Val Multiple submitters Breast and/or ovarian cancer
p.Ile819= Multiple submitters hereditary neoplastic syndrome
p.Ile951= Multiple submitters hereditary breast carcinoma
p.Leu1008= Multiple submitters hereditary neoplastic syndrome
p.Leu1023= Multiple submitters Breast and/or ovarian cancer
p.Leu1047= Multiple submitters Fanconi anemia complementation group J
p.Leu1058= Multiple submitters hereditary breast carcinoma
p.Leu1105= Multiple submitters hereditary neoplastic syndrome
p.Leu1107= Multiple submitters hereditary neoplastic syndrome
p.Leu1158= Multiple submitters Fanconi anemia complementation group J
p.Leu1166= Multiple submitters hereditary neoplastic syndrome
p.Leu1195= Multiple submitters Fanconi anemia complementation group J
p.Leu1221= Multiple submitters hereditary neoplastic syndrome
p.Leu1223= Multiple submitters hereditary breast carcinoma
p.Leu138= Multiple submitters hereditary neoplastic syndrome
p.Leu183= Multiple submitters hereditary neoplastic syndrome
p.Leu195Pro Multiple submitters Breast and/or ovarian cancer
p.Leu199= Multiple submitters Fanconi anemia complementation group J
p.Leu301= Multiple submitters hereditary neoplastic syndrome
p.Leu358= Multiple submitters hereditary neoplastic syndrome
p.Leu36= Multiple submitters hereditary breast carcinoma
p.Leu372= Multiple submitters hereditary breast carcinoma
p.Leu373= Multiple submitters Fanconi anemia complementation group J
p.Leu392= Multiple submitters Breast and/or ovarian cancer
p.Leu438= Multiple submitters hereditary neoplastic syndrome
p.Leu44= Multiple submitters Fanconi anemia complementation group J
p.Leu449= Multiple submitters hereditary breast carcinoma
p.Leu534= Multiple submitters hereditary neoplastic syndrome
p.Leu537= Multiple submitters hereditary breast carcinoma
p.Leu56= Multiple submitters hereditary breast carcinoma
p.Leu570= Multiple submitters hereditary breast carcinoma
p.Leu573= Multiple submitters hereditary neoplastic syndrome
p.Leu589= Multiple submitters hereditary breast carcinoma
p.Leu594= Multiple submitters hereditary neoplastic syndrome
p.Leu61= Multiple submitters Fanconi anemia complementation group J
p.Leu612= Multiple submitters hereditary neoplastic syndrome
p.Leu67= Multiple submitters hereditary breast carcinoma
p.Leu680= Multiple submitters hereditary breast carcinoma
p.Leu701= Multiple submitters hereditary breast carcinoma
p.Leu717= Multiple submitters Fanconi anemia complementation group J
p.Leu738= Multiple submitters Fanconi anemia complementation group J
p.Leu739= Multiple submitters hereditary neoplastic syndrome
p.Leu756= Multiple submitters Fanconi anemia complementation group J
p.Leu792= Multiple submitters Fanconi anemia complementation group J
p.Leu796= Multiple submitters hereditary neoplastic syndrome
p.Leu807= Multiple submitters hereditary neoplastic syndrome
p.Leu860= Multiple submitters hereditary breast carcinoma
p.Leu881= Multiple submitters hereditary neoplastic syndrome
p.Leu892= Multiple submitters hereditary breast carcinoma

Likely benign 1015

Showing the top 300 by review status; the full set is in the sitemap.

c.1140+10T>C Multiple submitters Fanconi anemia complementation group J
c.1140+8T>C Multiple submitters Fanconi anemia complementation group J
c.1140+9A>C Multiple submitters Fanconi anemia complementation group J
c.1141-12T>C Multiple submitters hereditary breast carcinoma
c.1141-14C>A Multiple submitters hereditary neoplastic syndrome
c.1141-15T>C Multiple submitters hereditary neoplastic syndrome
c.1141-19A>T Multiple submitters Fanconi anemia complementation group J
c.1141-4A>G Multiple submitters hereditary neoplastic syndrome
c.1141-4A>T Multiple submitters hereditary neoplastic syndrome
c.1141-6T>C Multiple submitters hereditary breast carcinoma
c.1340+11T>C Multiple submitters Fanconi anemia complementation group J
c.1340+13G>A Multiple submitters hereditary neoplastic syndrome
c.1340+14T>C Multiple submitters hereditary neoplastic syndrome
c.1340+19T>C Multiple submitters hereditary neoplastic syndrome
c.1340+7A>T Multiple submitters Fanconi anemia complementation group J
c.1340+8G>T Multiple submitters hereditary breast carcinoma
c.1341-12A>G Multiple submitters hereditary neoplastic syndrome
c.1341-17G>T Multiple submitters hereditary breast carcinoma
c.1341-7A>G Multiple submitters Fanconi anemia complementation group J
c.1473+10T>G Multiple submitters Fanconi anemia complementation group J
c.1473+13_1473+14del Multiple submitters Fanconi anemia complementation group J
c.1473+14T>C Multiple submitters hereditary neoplastic syndrome
c.1473+15C>G Multiple submitters hereditary breast carcinoma
c.1473+16T>C Multiple submitters hereditary neoplastic syndrome
c.1473+19C>T Multiple submitters hereditary neoplastic syndrome
c.1473+8A>G Multiple submitters Fanconi anemia complementation group J
c.1474-12A>G Multiple submitters Fanconi anemia complementation group J
c.1474-13del Multiple submitters Fanconi anemia complementation group J
c.1474-16T>C Multiple submitters hereditary breast carcinoma
c.1474-17A>T Multiple submitters hereditary breast carcinoma
c.1474-18T>C Multiple submitters hereditary neoplastic syndrome
c.1474-20A>C Multiple submitters Fanconi anemia complementation group J
c.1474-7C>T Multiple submitters hereditary breast carcinoma
c.1628+18G>A Multiple submitters hereditary breast carcinoma
c.1628+18G>C Multiple submitters hereditary neoplastic syndrome
c.1628+20A>G Multiple submitters hereditary breast carcinoma
c.1628+7G>A Multiple submitters hereditary neoplastic syndrome
c.1628+83T>C Multiple submitters hereditary breast ovarian cancer syndrome
c.1628+9A>G Multiple submitters hereditary breast carcinoma
c.1629-13T>C Multiple submitters hereditary breast carcinoma
c.1629-14T>C Multiple submitters hereditary breast carcinoma
c.1629-6A>G Multiple submitters Fanconi anemia complementation group J
c.1794+10T>C Multiple submitters hereditary breast carcinoma
c.1794+19T>C Multiple submitters hereditary neoplastic syndrome
c.1794+7T>G Multiple submitters hereditary breast carcinoma
c.1794+8C>G Multiple submitters Fanconi anemia complementation group J
c.1794+8C>T Multiple submitters Fanconi anemia complementation group J
c.1795-10T>C Multiple submitters hereditary neoplastic syndrome
c.1795-12G>A Multiple submitters hereditary breast carcinoma
c.1795-15G>A Multiple submitters hereditary breast carcinoma
c.1795-18A>G Multiple submitters hereditary neoplastic syndrome
c.1795-19T>C Multiple submitters hereditary breast carcinoma
c.1795-20C>A Multiple submitters hereditary breast carcinoma
c.1795-4T>C Multiple submitters hereditary neoplastic syndrome
c.1935+11G>T Multiple submitters hereditary breast carcinoma
c.1935+13T>G Multiple submitters hereditary neoplastic syndrome
c.1935+17T>G Multiple submitters hereditary neoplastic syndrome
c.1935+7T>A Multiple submitters Fanconi anemia complementation group J
c.1935+8G>C Multiple submitters hereditary breast carcinoma
c.1936-12T>C Multiple submitters hereditary breast carcinoma
c.1936-13A>T Multiple submitters Fanconi anemia complementation group J
c.1936-19T>C Multiple submitters hereditary breast carcinoma
c.1936-4C>T Multiple submitters hereditary breast carcinoma
c.1936-7A>T Multiple submitters Fanconi anemia complementation group J
c.205+16A>G Multiple submitters hereditary neoplastic syndrome
c.205+18A>G Multiple submitters hereditary neoplastic syndrome
c.205+20C>G Multiple submitters hereditary breast carcinoma
c.206-14T>A Multiple submitters hereditary breast carcinoma
c.206-14T>C Multiple submitters hereditary breast carcinoma
c.206-16G>A Multiple submitters Fanconi anemia complementation group J
c.206-17T>C Multiple submitters hereditary breast carcinoma
c.206-18A>G Multiple submitters hereditary neoplastic syndrome
c.206-6T>A Multiple submitters hereditary neoplastic syndrome
c.206-8A>G Multiple submitters hereditary breast carcinoma
c.206-9C>A Multiple submitters hereditary breast carcinoma
c.206-9C>T Multiple submitters hereditary breast carcinoma
c.2097+17T>G Multiple submitters hereditary neoplastic syndrome
c.2097+8A>G Multiple submitters Fanconi anemia complementation group J
c.2097+9A>G Multiple submitters Fanconi anemia complementation group J
c.2098-10C>T Multiple submitters hereditary neoplastic syndrome
c.2098-11C>T Multiple submitters hereditary breast carcinoma
c.2098-12T>C Multiple submitters Fanconi anemia complementation group J
c.2098-16T>C Multiple submitters hereditary breast carcinoma
c.2098-17T>C Multiple submitters hereditary neoplastic syndrome
c.2098-18T>C Multiple submitters Fanconi anemia complementation group J
c.2098-3del Multiple submitters hereditary breast carcinoma
c.2098-3T>C Multiple submitters hereditary breast carcinoma
c.2098-8C>T Multiple submitters hereditary breast carcinoma
c.2098-9C>T Multiple submitters hereditary neoplastic syndrome
c.2257+7G>A Multiple submitters hereditary breast carcinoma
c.2257+8G>T Multiple submitters Fanconi anemia complementation group J
c.2258-10G>A Multiple submitters hereditary breast carcinoma
c.2258-13T>C Multiple submitters hereditary neoplastic syndrome
c.2258-15T>C Multiple submitters hereditary neoplastic syndrome
c.2258-18T>G Multiple submitters hereditary neoplastic syndrome
c.2258-19C>T Multiple submitters hereditary breast carcinoma
c.2258-20G>A Multiple submitters hereditary neoplastic syndrome
c.2258-2dup Multiple submitters hereditary breast carcinoma
c.2258-6dup Multiple submitters hereditary breast carcinoma
c.2258-6T>C Multiple submitters hereditary breast carcinoma
c.2258-7_2258-4del Multiple submitters Fanconi anemia complementation group J
c.2258-7_2258-5del Multiple submitters hereditary breast carcinoma
c.2258-7G>A Multiple submitters hereditary breast carcinoma
c.2258-8T>C Multiple submitters hereditary neoplastic syndrome
c.2258-9_2258-8dup Multiple submitters hereditary breast carcinoma
c.2379+7C>T Multiple submitters hereditary neoplastic syndrome
c.2379+8A>G Multiple submitters hereditary breast carcinoma
c.2380-23T>A Multiple submitters hereditary breast ovarian cancer syndrome
c.2492+10G>A Multiple submitters Fanconi anemia complementation group J
c.2492+12G>A Multiple submitters Fanconi anemia complementation group J
c.2492+15del Multiple submitters hereditary neoplastic syndrome
c.2492+19_2492+24delinsT Multiple submitters hereditary neoplastic syndrome
c.2492+8G>C Multiple submitters Fanconi anemia complementation group J
c.2492+9A>C Multiple submitters hereditary breast carcinoma
c.2493-10T>C Multiple submitters hereditary breast carcinoma
c.2493-13C>T Multiple submitters hereditary breast carcinoma
c.2493-14C>T Multiple submitters hereditary neoplastic syndrome
c.2493-15C>T Multiple submitters hereditary neoplastic syndrome
c.2493-16T>C Multiple submitters Fanconi anemia complementation group J
c.2493-16T>G Multiple submitters hereditary neoplastic syndrome
c.2493-17T>C Multiple submitters hereditary breast carcinoma
c.2493-18T>C Multiple submitters Fanconi anemia complementation group J
c.2493-50G>T Multiple submitters hereditary breast ovarian cancer syndrome
c.2575+10C>T Multiple submitters Fanconi anemia complementation group J
c.2575+12G>C Multiple submitters hereditary breast carcinoma
c.2575+6A>T Multiple submitters hereditary neoplastic syndrome
c.2575+7T>A Multiple submitters hereditary breast carcinoma
c.2576-12C>T Multiple submitters Fanconi anemia complementation group J
c.2576-13C>T Multiple submitters hereditary breast carcinoma
c.2576-18G>A Multiple submitters hereditary neoplastic syndrome
c.2576-19G>A Multiple submitters Fanconi anemia complementation group J
c.2576-19G>T Multiple submitters hereditary breast carcinoma
c.2576-7T>A Multiple submitters hereditary neoplastic syndrome
c.2576-7T>C Multiple submitters hereditary neoplastic syndrome
c.2905+15T>G Multiple submitters hereditary neoplastic syndrome
c.2905+16C>G Multiple submitters hereditary breast carcinoma
c.2905+17C>A Multiple submitters hereditary breast carcinoma
c.2905+17C>T Multiple submitters hereditary breast carcinoma
c.2905+19_2905+23del Multiple submitters hereditary neoplastic syndrome
c.2905+19A>G Multiple submitters hereditary breast carcinoma
c.2906-10G>A Multiple submitters hereditary breast carcinoma
c.2906-13C>T Multiple submitters hereditary breast carcinoma
c.2906-15T>A Multiple submitters hereditary breast carcinoma
c.2906-15T>C Multiple submitters hereditary breast carcinoma
c.2906-17A>C Multiple submitters hereditary breast carcinoma
c.2906-18A>C Multiple submitters hereditary breast carcinoma
c.2906-18A>G Multiple submitters hereditary breast carcinoma
c.2906-18dup Multiple submitters hereditary breast carcinoma
c.379+10A>G Multiple submitters Fanconi anemia complementation group J
c.379+17C>T Multiple submitters hereditary breast carcinoma
c.379+18T>C Multiple submitters hereditary breast carcinoma
c.379+5T>A Multiple submitters hereditary neoplastic syndrome
c.379+8A>C Multiple submitters hereditary neoplastic syndrome
c.379+8A>G Multiple submitters Fanconi anemia complementation group J
c.379+8A>T Multiple submitters Fanconi anemia complementation group J
c.380-10C>T Multiple submitters hereditary breast carcinoma
c.380-11A>G Multiple submitters Fanconi anemia complementation group J
c.380-13T>C Multiple submitters hereditary breast carcinoma
c.380-16A>T Multiple submitters hereditary neoplastic syndrome
c.380-20T>C Multiple submitters hereditary breast carcinoma
c.380-4T>C Multiple submitters hereditary breast carcinoma
c.507+10G>A Multiple submitters hereditary breast carcinoma
c.507+14A>G Multiple submitters hereditary neoplastic syndrome
c.507+19C>T Multiple submitters hereditary breast carcinoma
c.507+20A>C Multiple submitters hereditary neoplastic syndrome
c.507+9_507+10del Multiple submitters Fanconi anemia complementation group J
c.508-10G>A Multiple submitters Fanconi anemia complementation group J
c.508-10G>C Multiple submitters Fanconi anemia complementation group J
c.508-10G>T Multiple submitters hereditary breast carcinoma
c.508-11T>C Multiple submitters hereditary breast carcinoma
c.508-15G>T Multiple submitters hereditary breast carcinoma
c.508-16G>C Multiple submitters hereditary breast carcinoma
c.508-18T>C Multiple submitters hereditary breast carcinoma
c.627+16A>G Multiple submitters hereditary neoplastic syndrome
c.628-11C>G Multiple submitters hereditary breast carcinoma
c.628-15T>C Multiple submitters hereditary breast carcinoma
c.628-16C>A Multiple submitters hereditary breast carcinoma
c.628-20G>A Multiple submitters hereditary neoplastic syndrome
c.628-7C>T Multiple submitters Fanconi anemia complementation group J
c.918+10G>A Multiple submitters Fanconi anemia complementation group J
c.918+8A>C Multiple submitters hereditary breast carcinoma
c.918+9A>G Multiple submitters hereditary breast carcinoma
c.919-12A>G Multiple submitters hereditary breast carcinoma
c.919-13T>C Multiple submitters Fanconi anemia complementation group J
c.919-14A>G Multiple submitters Fanconi anemia complementation group J
c.919-16G>A Multiple submitters Fanconi anemia complementation group J
c.919-16G>T Multiple submitters hereditary breast carcinoma
c.919-17dup Multiple submitters Fanconi anemia complementation group J
c.919-17T>C Multiple submitters hereditary breast carcinoma
c.919-18A>T Multiple submitters hereditary breast carcinoma
c.919-4C>T Multiple submitters hereditary breast carcinoma
c.919-8G>A Multiple submitters Fanconi anemia complementation group J
c.919-8G>T Multiple submitters hereditary neoplastic syndrome
c.93+11_93+12dup Multiple submitters hereditary neoplastic syndrome
c.93+17A>G Multiple submitters hereditary neoplastic syndrome
c.93+8T>C Multiple submitters Fanconi anemia complementation group J
c.94-10del Multiple submitters hereditary neoplastic syndrome
c.94-19T>C Multiple submitters Fanconi anemia complementation group J
c.94-4A>G Multiple submitters hereditary neoplastic syndrome
c.94-4A>T Multiple submitters hereditary breast carcinoma
c.94-8G>A Multiple submitters hereditary neoplastic syndrome
c.94-8G>T Multiple submitters hereditary breast carcinoma
c.*13C>T Multiple submitters hereditary neoplastic syndrome
p.Ala136= Multiple submitters hereditary neoplastic syndrome
p.Ala349= Multiple submitters hereditary breast carcinoma
p.Ala821= Multiple submitters hereditary breast carcinoma
p.Ala841= Multiple submitters hereditary neoplastic syndrome
p.Arg148= Multiple submitters hereditary neoplastic syndrome
p.Arg264= Multiple submitters hereditary neoplastic syndrome
p.Arg34= Multiple submitters hereditary breast carcinoma
p.Arg855= Multiple submitters hereditary breast carcinoma
p.Asn225= Multiple submitters hereditary neoplastic syndrome
p.Asn306= Multiple submitters hereditary neoplastic syndrome
p.Asn370= Multiple submitters hereditary breast carcinoma
p.Asn541= Multiple submitters hereditary neoplastic syndrome
p.Asn576= Multiple submitters Fanconi anemia complementation group J
p.Asp153= Multiple submitters hereditary breast carcinoma
p.Asp336= Multiple submitters Fanconi anemia complementation group J
p.Asp73= Multiple submitters hereditary breast carcinoma
p.Asp773= Multiple submitters Fanconi anemia complementation group J
p.Asp791= Multiple submitters hereditary neoplastic syndrome
p.Asp904= Multiple submitters hereditary neoplastic syndrome
p.Gln388= Multiple submitters hereditary neoplastic syndrome
p.Gln728= Multiple submitters hereditary breast carcinoma
p.Gln815= Multiple submitters hereditary neoplastic syndrome
p.Gln820= Multiple submitters hereditary neoplastic syndrome
p.Glu1230= Multiple submitters Fanconi anemia complementation group J
p.Glu262= Multiple submitters hereditary neoplastic syndrome
p.Glu339= Multiple submitters hereditary neoplastic syndrome
p.Glu404= Multiple submitters hereditary breast carcinoma
p.Glu412= Multiple submitters hereditary breast carcinoma
p.Glu511= Multiple submitters hereditary breast carcinoma
p.Glu938= Multiple submitters hereditary neoplastic syndrome
p.Gly249= Multiple submitters hereditary neoplastic syndrome
p.Gly492= Multiple submitters hereditary neoplastic syndrome
p.Gly750= Multiple submitters hereditary neoplastic syndrome
p.Gly813= Multiple submitters hereditary neoplastic syndrome
p.His237= Multiple submitters hereditary neoplastic syndrome
p.His435= Multiple submitters hereditary neoplastic syndrome
p.His888= Multiple submitters hereditary breast carcinoma
p.Ile1176= Multiple submitters hereditary breast carcinoma
p.Ile319= Multiple submitters hereditary neoplastic syndrome
p.Ile337= Multiple submitters hereditary neoplastic syndrome
p.Ile562= Multiple submitters Fanconi anemia complementation group J
p.Ile564= Multiple submitters hereditary neoplastic syndrome
p.Ile746= Multiple submitters Fanconi anemia complementation group J
p.Ile784= Multiple submitters hereditary breast carcinoma
p.Ile868= Multiple submitters hereditary neoplastic syndrome
p.Ile902= Multiple submitters Fanconi anemia complementation group J
p.Leu195= Multiple submitters hereditary breast carcinoma
p.Leu263= Multiple submitters hereditary breast carcinoma
p.Leu325= Multiple submitters hereditary breast carcinoma
p.Leu527= Multiple submitters hereditary neoplastic syndrome
p.Leu54= Multiple submitters Fanconi anemia complementation group J
p.Leu695= Multiple submitters hereditary neoplastic syndrome
p.Leu709= Multiple submitters Fanconi anemia complementation group J
p.Leu811= Multiple submitters hereditary neoplastic syndrome
p.Leu923= Multiple submitters hereditary neoplastic syndrome
p.Lys20= Multiple submitters hereditary neoplastic syndrome
p.Lys39= Multiple submitters hereditary neoplastic syndrome
p.Lys432= Multiple submitters Fanconi anemia complementation group J
p.Lys503= Multiple submitters hereditary breast carcinoma
p.Phe108= Multiple submitters hereditary breast carcinoma
p.Phe1171= Multiple submitters hereditary neoplastic syndrome
p.Phe670= Multiple submitters hereditary breast carcinoma
p.Pro211= Multiple submitters hereditary neoplastic syndrome
p.Pro488= Multiple submitters hereditary breast carcinoma
p.Pro727= Multiple submitters hereditary neoplastic syndrome
p.Pro812= Multiple submitters hereditary neoplastic syndrome
p.Pro957= Multiple submitters hereditary neoplastic syndrome
p.Ser1001= Multiple submitters hereditary breast carcinoma
p.Ser1029= Multiple submitters Fanconi anemia complementation group J
p.Ser1106= Multiple submitters hereditary neoplastic syndrome
p.Ser1115= Multiple submitters Fanconi anemia complementation group J
p.Ser112= Multiple submitters hereditary breast carcinoma
p.Ser1129= Multiple submitters hereditary breast carcinoma
p.Ser1237= Multiple submitters hereditary breast carcinoma
p.Ser241= Multiple submitters hereditary neoplastic syndrome
p.Ser3= Multiple submitters Fanconi anemia complementation group J
p.Ser53= Multiple submitters hereditary neoplastic syndrome
p.Ser580= Multiple submitters hereditary breast carcinoma
p.Ser697= Multiple submitters hereditary neoplastic syndrome
p.Ser854= Multiple submitters hereditary neoplastic syndrome
p.Ser880= Multiple submitters hereditary neoplastic syndrome
p.Ser930= Multiple submitters hereditary breast carcinoma
p.Ser990= Multiple submitters hereditary breast carcinoma
p.Thr1013= Multiple submitters hereditary breast carcinoma
p.Thr1020= Multiple submitters hereditary neoplastic syndrome
p.Thr1059= Multiple submitters Fanconi anemia complementation group J
p.Thr1082= Multiple submitters hereditary neoplastic syndrome
p.Thr1133= Multiple submitters hereditary neoplastic syndrome
p.Thr274= Multiple submitters hereditary neoplastic syndrome
p.Thr327= Multiple submitters hereditary neoplastic syndrome
p.Thr476= Multiple submitters hereditary neoplastic syndrome
p.Thr609= Multiple submitters Fanconi anemia complementation group J
p.Thr953= Multiple submitters hereditary neoplastic syndrome
p.Tyr1131= Multiple submitters Fanconi anemia complementation group J
p.Tyr247= Multiple submitters hereditary neoplastic syndrome
p.Tyr369= Multiple submitters hereditary neoplastic syndrome
p.Tyr743= Multiple submitters Fanconi anemia complementation group J

Uncertain significance 3067

Showing the top 300 by review status; the full set is in the sitemap.

c.1140+3G>T Multiple submitters Fanconi anemia complementation group J
c.1140+4A>T Multiple submitters hereditary breast carcinoma
c.1141-7_1141-3del Multiple submitters hereditary breast ovarian cancer syndrome
c.1474-11A>G Multiple submitters hereditary breast carcinoma
c.1474-5T>A Multiple submitters hereditary neoplastic syndrome
c.1780_1781delinsAA Multiple submitters hereditary breast carcinoma
c.1935+4_1935+7del Multiple submitters hereditary neoplastic syndrome
c.1935+5G>A Multiple submitters Fanconi anemia complementation group J
c.1936-12_1936-10del Multiple submitters hereditary breast carcinoma
c.1936-5_1936-4delinsGT Multiple submitters hereditary breast carcinoma
c.1936-5T>G Multiple submitters hereditary neoplastic syndrome
c.205+4A>C Multiple submitters hereditary neoplastic syndrome
c.2097+5G>A Multiple submitters hereditary neoplastic syndrome
c.2097+6G>A Multiple submitters hereditary neoplastic syndrome
c.2257+3A>G Multiple submitters Fanconi anemia complementation group J
c.2258-5T>G Multiple submitters hereditary neoplastic syndrome
c.2379+5G>A Multiple submitters hereditary neoplastic syndrome
c.2379+5G>C Multiple submitters Fanconi anemia complementation group J
c.2380-20A>G Multiple submitters hereditary breast carcinoma
c.2492+3A>C Multiple submitters hereditary neoplastic syndrome
c.2492+3A>T Multiple submitters hereditary breast carcinoma
c.2492+5G>A Multiple submitters hereditary breast carcinoma
c.2492+5G>C Multiple submitters hereditary neoplastic syndrome
c.2493-4C>T Multiple submitters hereditary neoplastic syndrome
c.2575+4A>G Multiple submitters Fanconi anemia complementation group J
c.2575+5G>A Multiple submitters hereditary neoplastic syndrome
c.2906-2A>C Multiple submitters hereditary breast carcinoma
c.2906-3T>A Multiple submitters hereditary breast carcinoma
c.380-14A>G Multiple submitters hereditary breast carcinoma
c.507+6C>T Multiple submitters hereditary neoplastic syndrome
c.627+3A>G Multiple submitters hereditary neoplastic syndrome
c.628-3C>T Multiple submitters hereditary neoplastic syndrome
c.-1T>C Multiple submitters hereditary neoplastic syndrome
c.-22C>A Multiple submitters Fanconi anemia complementation group J
c.-2C>G Multiple submitters hereditary neoplastic syndrome
c.-4C>T Multiple submitters
p.Ala1019Thr Multiple submitters hereditary breast carcinoma ⚠
p.Ala1019Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1030_Ser1032dup Multiple submitters hereditary neoplastic syndrome
p.Ala1081Gly Multiple submitters hereditary breast carcinoma ⚠
p.Ala1081Thr Multiple submitters hereditary breast carcinoma ⚠
p.Ala1081Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1125del Multiple submitters Breast and/or ovarian cancer
p.Ala1125Gly Multiple submitters Fanconi anemia complementation group J ⚠
p.Ala1150Gly Multiple submitters Fanconi anemia complementation group J ⚠
p.Ala1150Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1159Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1159Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1167Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1182Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1187Val Multiple submitters hereditary breast carcinoma ⚠
p.Ala135Gly Multiple submitters hereditary breast carcinoma ⚠
p.Ala135Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala135Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala136Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala140Thr Multiple submitters hereditary breast carcinoma ⚠
p.Ala144Glu Multiple submitters Fanconi anemia complementation group J ⚠
p.Ala21Asp Multiple submitters hereditary breast carcinoma ⚠
p.Ala21Val Multiple submitters hereditary breast carcinoma ⚠
p.Ala257_Ile259dup Multiple submitters hereditary neoplastic syndrome
p.Ala257Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala257Val Multiple submitters Fanconi anemia complementation group J ⚠
p.Ala267Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala267Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala334Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala334Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala334Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala349Thr Multiple submitters Breast and/or ovarian cancer ⚠
p.Ala349Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala375Thr Multiple submitters hereditary breast carcinoma ⚠
p.Ala375Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala395Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala395Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala402Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala406Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala406Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala451Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala485del Multiple submitters hereditary neoplastic syndrome
p.Ala496Val Multiple submitters Fanconi anemia complementation group J ⚠
p.Ala521Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala521Val Multiple submitters hereditary breast carcinoma ⚠
p.Ala551Glu Multiple submitters familial ovarian cancer ⚠
p.Ala551Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala551Val Multiple submitters hereditary breast carcinoma ⚠
p.Ala55Thr Multiple submitters Fanconi anemia complementation group J ⚠
p.Ala55Val Multiple submitters Fanconi anemia complementation group J ⚠
p.Ala585Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala585Leu Multiple submitters hereditary neoplastic syndrome
p.Ala585Pro Multiple submitters hereditary breast carcinoma ⚠
p.Ala599Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala60Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala62Ser Multiple submitters hereditary breast carcinoma ⚠
p.Ala62Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala62Val Multiple submitters hereditary breast carcinoma ⚠
p.Ala662Thr Multiple submitters hereditary breast carcinoma ⚠
p.Ala678Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala678Thr Multiple submitters hereditary breast carcinoma ⚠
p.Ala678Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala72Glu Multiple submitters Fanconi anemia complementation group J ⚠
p.Ala72Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala745Val Multiple submitters hereditary breast carcinoma ⚠
p.Ala755Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala755Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala755Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala776Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala778Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala821Pro Multiple submitters hereditary breast carcinoma ⚠
p.Ala821Val Multiple submitters Fanconi anemia complementation group J ⚠
p.Ala828Gly Multiple submitters hereditary breast carcinoma ⚠
p.Ala841Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala877Pro Multiple submitters Fanconi anemia complementation group J ⚠
p.Ala877Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala877Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala89Gly Multiple submitters hereditary breast carcinoma ⚠
p.Ala925Thr Multiple submitters hereditary breast carcinoma ⚠
p.Ala926Glu Multiple submitters hereditary breast carcinoma ⚠
p.Ala926Val Multiple submitters hereditary breast carcinoma ⚠
p.Ala939Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala977Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala977Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala977Thr Multiple submitters hereditary breast carcinoma ⚠
p.Ala977Val Multiple submitters hereditary breast carcinoma ⚠
p.Ala980Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1035Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg106Ser Multiple submitters Fanconi anemia complementation group J ⚠
p.Arg1085Thr Multiple submitters Fanconi anemia complementation group J ⚠
p.Arg1085Val Multiple submitters hereditary breast carcinoma
p.Arg1119Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1154Thr Multiple submitters hereditary breast carcinoma ⚠
p.Arg1174Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg148Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg160Gly Multiple submitters hereditary breast carcinoma ⚠
p.Arg160Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg162Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg173His Multiple submitters familial ovarian cancer ⚠
p.Arg173Pro Multiple submitters hereditary breast carcinoma ⚠
p.Arg173Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg251His Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg261Gly Multiple submitters Fanconi anemia complementation group J ⚠
p.Arg261Ser Multiple submitters hereditary breast carcinoma ⚠
p.Arg264Gly Multiple submitters Fanconi anemia complementation group J ⚠
p.Arg265Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg265Ser Multiple submitters hereditary breast carcinoma ⚠
p.Arg279Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg34Gly Multiple submitters hereditary breast carcinoma ⚠
p.Arg356Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg356Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg378Lys Multiple submitters Fanconi anemia complementation group J ⚠
p.Arg378Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg403Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg403Gly Multiple submitters hereditary breast carcinoma ⚠
p.Arg403Trp Multiple submitters familial ovarian cancer ⚠
p.Arg416Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg416Leu Multiple submitters hereditary breast carcinoma ⚠
p.Arg419Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg419Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg419Pro Multiple submitters hereditary breast carcinoma ⚠
p.Arg431Lys Multiple submitters Fanconi anemia complementation group J ⚠
p.Arg439Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg459Gly Multiple submitters Fanconi anemia complementation group J ⚠
p.Arg459Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg539Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg579Ser Multiple submitters Fanconi anemia complementation group J ⚠
p.Arg658Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg658Trp Multiple submitters hereditary breast carcinoma ⚠
p.Arg707Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg707Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg707His Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg707Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg762Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg762His Multiple submitters Breast and/or ovarian cancer ⚠
p.Arg762Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg762Tyr Multiple submitters hereditary neoplastic syndrome
p.Arg777Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg777Gly Multiple submitters Fanconi anemia complementation group J ⚠
p.Arg777His Multiple submitters familial ovarian cancer ⚠
p.Arg777Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg798Gln Multiple submitters hereditary breast carcinoma ⚠
p.Arg808Gly Multiple submitters hereditary breast carcinoma ⚠
p.Arg814Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg823Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg831Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg834Lys Multiple submitters hereditary breast carcinoma ⚠
p.Arg834Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg836Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg848Cys Multiple submitters familial ovarian cancer ⚠
p.Arg848Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg850Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg855Cys Multiple submitters familial ovarian cancer ⚠
p.Arg855His Multiple submitters hereditary breast carcinoma ⚠
p.Arg855Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg855Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg865Gln Multiple submitters familial ovarian cancer ⚠
p.Arg865Trp Multiple submitters familial ovarian cancer ⚠
p.Arg899Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg965Gly Multiple submitters hereditary breast carcinoma ⚠
p.Arg987Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1006Ter Multiple submitters hereditary neoplastic syndrome
p.Asn101Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1028Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1028Lys Multiple submitters Fanconi anemia complementation group J ⚠
p.Asn1028Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1028Thr Multiple submitters hereditary breast carcinoma ⚠
p.Asn1057Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1061Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1061His Multiple submitters hereditary breast carcinoma ⚠
p.Asn1087Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1118Asp Multiple submitters hereditary breast carcinoma ⚠
p.Asn1118Ser Multiple submitters hereditary breast carcinoma ⚠
p.Asn1147Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1156Ser Multiple submitters Fanconi anemia complementation group J ⚠
p.Asn1161_Asp1163dup Multiple submitters hereditary neoplastic syndrome
p.Asn1212Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1219His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn151Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn182Ser Multiple submitters hereditary breast carcinoma ⚠
p.Asn196Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn203Ser Multiple submitters hereditary breast carcinoma ⚠
p.Asn291Ser Multiple submitters hereditary breast carcinoma ⚠
p.Asn306Ser Multiple submitters hereditary breast carcinoma ⚠
p.Asn30His Multiple submitters hereditary breast carcinoma ⚠
p.Asn370Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn37Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn384Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn397His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn427Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn428Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn429Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn429His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn429Thr Multiple submitters familial ovarian cancer ⚠
p.Asn447His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn447Thr Multiple submitters hereditary breast carcinoma ⚠
p.Asn560His Multiple submitters Fanconi anemia complementation group J ⚠
p.Asn560Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn568del Multiple submitters hereditary neoplastic syndrome
p.Asn568Tyr Multiple submitters hereditary breast carcinoma ⚠
p.Asn590Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn638Asp Multiple submitters hereditary breast carcinoma ⚠
p.Asn659Ser Multiple submitters hereditary breast carcinoma ⚠
p.Asn666Asp Multiple submitters Fanconi anemia complementation group J ⚠
p.Asn666Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn716Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn775Lys Multiple submitters hereditary breast carcinoma ⚠
p.Asn801Asp Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1 ⚠
p.Asn801Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn826Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn826Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn837Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn851Lys Multiple submitters hereditary breast carcinoma ⚠
p.Asn933Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn955Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1080Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1080Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1100His Multiple submitters Fanconi anemia complementation group J ⚠
p.Asp1100Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1102Asn Multiple submitters Fanconi anemia complementation group J ⚠
p.Asp1102Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1112Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1112Glu Multiple submitters Fanconi anemia complementation group J ⚠
p.Asp1112Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1112Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1120fs Multiple submitters hereditary neoplastic syndrome
p.Asp1127fs Multiple submitters hereditary neoplastic syndrome
p.Asp1138Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1138Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1141Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1143Gly Multiple submitters hereditary breast carcinoma ⚠
p.Asp1169Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1169Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1180His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1180Val Multiple submitters hereditary breast carcinoma ⚠
p.Asp1192Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1207Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1208His Multiple submitters Fanconi anemia complementation group J ⚠
p.Asp1210del Multiple submitters hereditary neoplastic syndrome
p.Asp127Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp127Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp152His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp153Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp153Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp188Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp236Val Multiple submitters familial ovarian cancer ⚠
p.Asp280Gly Multiple submitters hereditary breast carcinoma ⚠
p.Asp303Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp321Asn Multiple submitters Fanconi anemia complementation group J ⚠
p.Asp321Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp336Asn Multiple submitters Fanconi anemia complementation group J ⚠
p.Asp336Val Multiple submitters hereditary breast carcinoma ⚠
p.Asp361Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp374Gly Multiple submitters hereditary breast carcinoma ⚠
p.Asp393Gly Multiple submitters Fanconi anemia complementation group J ⚠
p.Asp400Tyr Multiple submitters familial ovarian cancer ⚠
p.Asp423Gly Multiple submitters hereditary breast carcinoma ⚠
p.Asp423His Multiple submitters Fanconi anemia complementation group J ⚠
p.Asp546Gly Multiple submitters hereditary breast carcinoma ⚠
p.Asp547Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp563del Multiple submitters Fanconi anemia complementation group J
p.Asp566Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp566Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp566Val Multiple submitters hereditary breast carcinoma ⚠