Sugi Variant

Sugi Variant/RAD51C

RAD51C — 1950 ClinVar variants

All ClinVar germline RAD51C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 846 flagged for review →

133 Pathogenic · 66 Pathogenic/Likely pathogenic · 83 Likely pathogenic · 395 Conflicting · 78 Benign · 152 Benign/Likely benign · 386 Likely benign · 657 Uncertain significance

Full RAD51C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 846

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 1

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

Predictors agree, ClinVar conflicts 270

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 270

Predicted LoF vs a conflicting call 11

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.

Predictors lean, ClinVar uncertain 398

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 398

Predictors split 166

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 166

All RAD51C variants

Pathogenic 133

  • c.405-2A>G Multiple submitters hereditary neoplastic syndrome
  • c.407_420del14 Multiple submitters hereditary neoplastic syndrome
  • p.Ala266fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg168fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg168Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg237Ter Multiple submitters Inherited breast cancer and ovarian cancer
  • p.Arg319Ter Multiple submitters RAD51C-related cancer predisposition
  • p.Arg74_Tyr75insTer Multiple submitters hereditary neoplastic syndrome
  • p.Asn263fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Asn274fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Asn284fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Asp167fs Multiple submitters familial ovarian cancer
  • p.Cys176fs Multiple submitters Fanconi anemia complementation group O
  • p.Gln133Ter Multiple submitters RAD51C-related cancer predisposition
  • p.Gln143Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln267Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln268Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln321Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln62fs Multiple submitters Fanconi anemia complementation group O
  • p.Gln93Ter Multiple submitters RAD51C-related disorder
  • p.Gln97Ter Multiple submitters Fanconi anemia complementation group O
  • p.Glu67Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu80Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gly113fs Multiple submitters Fanconi anemia complementation group O
  • p.Gly149fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Gly162Ter Multiple submitters Fanconi anemia complementation group O
  • p.Gly189Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gly306fs Multiple submitters Fanconi anemia complementation group O
  • p.His82fs Multiple submitters hereditary neoplastic syndrome
  • p.Ile101fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Leu134Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Leu262Ter Multiple submitters hereditary neoplastic syndrome
  • p.Leu278Ter Multiple submitters hereditary neoplastic syndrome
  • p.Leu297fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Leu88fs Multiple submitters hereditary neoplastic syndrome
  • p.Pro73fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser105Ter Multiple submitters hereditary neoplastic syndrome
  • p.Ser53fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser81fs Multiple submitters hereditary neoplastic syndrome
  • p.Thr120fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Thr160fs Multiple submitters hereditary neoplastic syndrome
  • p.Trp305Ter Multiple submitters hereditary neoplastic syndrome
  • p.Tyr75Ter Multiple submitters RAD51C-related cancer predisposition
  • c.1_705del Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.405_571del Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.572-?_705+?del Single submitter
  • c.706_837+2del Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.706-4423_1131+7851del;p.(Val236_Leu376delins11 Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.837+5G>A Single submitter Fanconi anemia complementation group O
  • c.965+1G>C Single submitter Fanconi anemia complementation group O
  • c.966_1027del Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.966-?_1026+?del Single submitter Fanconi anemia complementation group O
  • c.(?_-1 Single submitter Fanconi anemia complementation group O
  • p.Ala152fs Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Ala175fs Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Ala184fs Single submitter hereditary neoplastic syndrome
  • p.Ala30fs Single submitter hereditary neoplastic syndrome
  • p.Ala35_Glu36insTer Single submitter breast-ovarian cancer, familial, susceptibility to, 1
  • p.Arg212fs Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Arg74fs Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Asn293fs Single submitter hereditary neoplastic syndrome
  • p.Asp108fs Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Asp13fs Single submitter Fanconi anemia complementation group O
  • p.Asp167Ter Single submitter hereditary neoplastic syndrome
  • p.Cys104fs Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Cys104Ter Single submitter Fanconi anemia complementation group O
  • p.Cys135fs Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Cys68Ter Single submitter hereditary neoplastic syndrome
  • p.Gln11Ter Single submitter Fanconi anemia complementation group O
  • p.Gln62Ter Single submitter hereditary neoplastic syndrome
  • p.Gln93fs Single submitter Fanconi anemia complementation group O
  • p.Glu122fs Single submitter Fanconi anemia complementation group O
  • p.Glu146Ter Single submitter Fanconi anemia complementation group O
  • p.Glu154Ter Single submitter hereditary neoplastic syndrome
  • p.Glu303Ter Single submitter Fanconi anemia complementation group O
  • p.Glu49fs Single submitter hereditary neoplastic syndrome
  • p.Glu67fs Single submitter hereditary neoplastic syndrome
  • p.Glu89Ter Single submitter hereditary neoplastic syndrome
  • p.Glu92Ter Single submitter Fanconi anemia complementation group O
  • p.Gly130fs Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Gly149Ter Single submitter hereditary neoplastic syndrome
  • p.Gly162fs Single submitter Fanconi anemia complementation group O
  • p.Gly243fs Single submitter Fanconi anemia complementation group O
  • p.Gly98fs Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.His233fs Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Ile123fs Single submitter hereditary neoplastic syndrome
  • p.Ile177fs Single submitter hereditary neoplastic syndrome
  • p.Ile63fs Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Leu138fs Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Leu14fs Single submitter Fanconi anemia complementation group O
  • p.Leu180fs Single submitter hereditary neoplastic syndrome
  • p.Leu19fs Single submitter Fanconi anemia complementation group O
  • p.Leu219fs Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Leu262delinsPhePhePhePhePhePheXaaXaaXaaXaaSerProPheTer Single submitter Fanconi anemia complementation group O
  • p.Leu27fs Single submitter Inherited ovarian cancer (without breast cancer)
  • p.Leu282Ter Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Leu323_Leu326delinsPheLeuTer Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Leu39fs Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Lys186Ter Single submitter Fanconi anemia complementation group O
  • p.Lys188fs Single submitter Fanconi anemia complementation group O
  • p.Lys26fs Single submitter Fanconi anemia complementation group O
  • p.Lys289fs Single submitter hereditary neoplastic syndrome
  • p.Lys54Ter Single submitter Fanconi anemia complementation group O
  • p.Lys72fs Single submitter hereditary neoplastic syndrome
  • p.Met1_Thr5del Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Met118fs Single submitter Fanconi anemia complementation group O
  • p.Phe103fs Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Phe164fs Single submitter Fanconi anemia complementation group O
  • p.Phe99fs Single submitter hereditary neoplastic syndrome
  • p.Pro116_Leu117insTer Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Pro18fs Single submitter Fanconi anemia complementation group O
  • p.Pro247fs Single submitter Fanconi anemia complementation group O
  • p.Ser105fs Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Ser29fs Single submitter Fanconi anemia complementation group O
  • p.Ser81Ter Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Thr121fs Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Thr132fs Single submitter Fanconi anemia complementation group O
  • p.Thr288fs Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Thr70fs Single submitter Fanconi anemia complementation group O
  • p.Thr78fs Single submitter Fanconi anemia complementation group O
  • p.Tyr210Ter Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Tyr327Ter Single submitter Fanconi anemia complementation group O
  • p.Val151fs Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Val156fs Single submitter hereditary neoplastic syndrome
  • p.Val166fs Single submitter Fanconi anemia complementation group O
  • p.Val169_Val170insTer Single submitter Fanconi anemia complementation group O
  • p.Val25fs Single submitter Fanconi anemia complementation group O
  • p.Val298fs Single submitter hereditary neoplastic syndrome
  • c.146-1G>C No assertion criteria gastric cancer
  • c.(235+1_236-1 No assertion criteria breast-ovarian cancer, familial, susceptibility to, 3
  • c.966-2_1026+1del No assertion criteria breast cancer
  • p.Glu40fs No assertion criteria gastric cancer
  • p.Leu225fs No assertion criteria breast-ovarian cancer, familial, susceptibility to, 3

Pathogenic/Likely pathogenic 66

  • c.1026+5_1026+7del Multiple submitters Hereditary cancer
  • c.145+1G>A Multiple submitters Fanconi anemia complementation group O
  • c.145+1G>T Multiple submitters hereditary neoplastic syndrome
  • c.404+2T>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.405-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.405-1G>C Multiple submitters hereditary neoplastic syndrome
  • c.571+1del Multiple submitters Fanconi anemia complementation group O
  • c.572-1G>C Multiple submitters familial ovarian cancer
  • c.572-1G>T Multiple submitters Breast and/or ovarian cancer
  • c.706-1G>A Multiple submitters hereditary breast ovarian cancer syndrome
  • c.706-1G>T Multiple submitters hereditary neoplastic syndrome
  • c.706-2A>C Multiple submitters Fanconi anemia complementation group O
  • c.706-2A>G Multiple submitters RAD51C-related disorder
  • c.837+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.837+1G>C Multiple submitters hereditary neoplastic syndrome
  • c.837+1G>T Multiple submitters hereditary neoplastic syndrome
  • c.904+5G>T Multiple submitters familial ovarian cancer
  • c.905-1G>A Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.905-2_905-1del Multiple submitters Breast and/or ovarian cancer
  • c.905-2A>C Multiple submitters hereditary neoplastic syndrome
  • c.905-2del Multiple submitters hereditary neoplastic syndrome
  • c.905-3_906del Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.965+1G>A Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.965+5G>A Multiple submitters hereditary neoplastic syndrome
  • p.Ala57fs Multiple submitters Fanconi anemia complementation group O
  • p.Ala76fs Multiple submitters RAD51C-related disorder
  • p.Arg193Ter Multiple submitters RAD51C-related cancer predisposition
  • p.Arg277Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Cys135Phe Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Cys135Ser Multiple submitters hereditary neoplastic syndrome
  • p.Cys135Tyr Multiple submitters RAD51C-related disorder
  • p.Cys335Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Gln137Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Gln178Ter Multiple submitters hereditary breast ovarian cancer syndrome
  • p.Gln285Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln332Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Gln33fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln33Ter Multiple submitters Inherited ovarian cancer (without breast cancer)
  • p.Gln340Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Glu191Lys Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Glu197Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Glu334Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu37fs Multiple submitters hereditary neoplastic syndrome
  • p.Glu45Ter Multiple submitters Fanconi anemia complementation group O
  • p.Gly150fs Multiple submitters hereditary neoplastic syndrome
  • p.Gly77fs Multiple submitters hereditary neoplastic syndrome
  • p.His179fs Multiple submitters hereditary neoplastic syndrome
  • p.His187fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Ile158fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Ile244fs Multiple submitters hereditary breast ovarian cancer syndrome
  • p.Leu134fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Leu138Phe Multiple submitters familial ovarian cancer
  • p.Leu61fs Multiple submitters RAD51C-related cancer predisposition
  • p.Lys84Ter Multiple submitters Fanconi anemia complementation group O
  • p.Met286fs Multiple submitters Fanconi anemia complementation group O
  • p.Phe148fs Multiple submitters Fanconi anemia complementation group O
  • p.Phe17fs Multiple submitters Fanconi anemia complementation group O
  • p.Phe32fs Multiple submitters RAD51C-related cancer predisposition
  • p.Pro127fs Multiple submitters Fanconi anemia complementation group O
  • p.Pro145fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser16fs Multiple submitters hereditary neoplastic syndrome
  • p.Thr174fs Multiple submitters hereditary neoplastic syndrome
  • p.Thr259fs Multiple submitters hereditary neoplastic syndrome
  • p.Thr287fs Multiple submitters Fanconi anemia complementation group O
  • p.Val28fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Val41fs Multiple submitters hereditary neoplastic syndrome

Likely pathogenic 83

  • c.146-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.146-4_146-2del Multiple submitters hereditary neoplastic syndrome
  • c.404+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.570_571+16del Multiple submitters hereditary neoplastic syndrome
  • c.571+1G>C Multiple submitters hereditary neoplastic syndrome
  • c.571+1G>T Multiple submitters hereditary neoplastic syndrome
  • c.572-2A>G Multiple submitters Fanconi anemia complementation group O
  • c.837+1del Multiple submitters Fanconi anemia complementation group O
  • c.837+2T>C Multiple submitters hereditary neoplastic syndrome
  • c.837+5G>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.838-1G>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.838-2A>G Multiple submitters hereditary neoplastic syndrome
  • c.838-2A>T Multiple submitters Fanconi anemia complementation group O
  • c.904+1G>A Multiple submitters Fanconi anemia complementation group O
  • c.904+1G>T Multiple submitters hereditary neoplastic syndrome
  • c.965+1del Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.965+2T>G Multiple submitters Fanconi anemia complementation group O
  • p.Arg322fs Multiple submitters hereditary neoplastic syndrome
  • p.Glu191Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gly114Glu Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Gly125Val Multiple submitters hereditary breast ovarian cancer syndrome
  • p.Phe315fs Multiple submitters Fanconi anemia complementation group O
  • p.Ser304fs Multiple submitters Fanconi anemia complementation group O
  • p.Ser331fs Multiple submitters Fanconi anemia complementation group O
  • p.Thr132Pro Multiple submitters hereditary breast ovarian cancer syndrome
  • p.Thr310fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Thr325fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.1_571del Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.1026+1G>C Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.1026+5G>A Single submitter hereditary neoplastic syndrome
  • c.145+177G>T Single submitter hereditary neoplastic syndrome
  • c.145+1G>C Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.145+2T>C Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.145+749A>G Single submitter hereditary neoplastic syndrome
  • c.146-1G>T Single submitter hereditary neoplastic syndrome
  • c.(?_21 Single submitter RAD51C-related cancer predisposition
  • c.371_372insALU Single submitter hereditary neoplastic syndrome
  • c.404+1G>C Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.404+26G>A Single submitter hereditary neoplastic syndrome
  • c.405-1G>T Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.571+1G>A Single submitter hereditary breast ovarian cancer syndrome
  • c.571+2863A>G Single submitter Fanconi anemia complementation group O
  • c.571+2T>A Single submitter Fanconi anemia complementation group O
  • c.571+3013_590del Single submitter Fanconi anemia complementation group O
  • c.571+3142C>T Single submitter hereditary neoplastic syndrome
  • c.572-1854_705+2812del Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.572-2A>C Single submitter RAD51C-related cancer predisposition
  • c.(705+1_706-1 Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.706-1G>C Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.706-3_706-1delinsAT Single submitter hereditary breast ovarian cancer syndrome
  • c.708_837+2del Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.837+1_837+13del Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.838-5_838-2del Single submitter hereditary neoplastic syndrome
  • c.904_904+11del Single submitter Fanconi anemia complementation group O
  • c.905_966del Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.965+5G>C Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.965+6T>A Single submitter Fanconi anemia complementation group O
  • c.966delG Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.-20_705+5del Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Ala55Ter Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Arg312Pro Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Arg322Gly Single submitter hereditary neoplastic syndrome
  • p.Asp159Gly Single submitter hereditary neoplastic syndrome
  • p.Asp318fs Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Cys135Ter Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Cys335fs Single submitter Fanconi anemia complementation group O
  • p.Gln267fs Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Gln344Ter Single submitter Fanconi anemia complementation group O
  • p.Glu122Gly Single submitter hereditary neoplastic syndrome
  • p.Glu334fs Single submitter Fanconi anemia complementation group O
  • p.Gly150Val Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Gly361fs Single submitter Fanconi anemia complementation group O
  • p.His307fs Single submitter hereditary neoplastic syndrome
  • p.Leu38_Leu39insTer Single submitter hereditary neoplastic syndrome
  • p.Leu69fs Single submitter RAD51C-related cancer predisposition
  • p.Lys131Glu Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Lys320fs Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Met10fs Single submitter
  • p.Pro299fs Single submitter Fanconi anemia complementation group O
  • p.Pro43fs Single submitter hereditary neoplastic syndrome
  • p.Thr121Arg Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Thr132Ile Single submitter hereditary neoplastic syndrome
  • p.Val337fs Single submitter hereditary neoplastic syndrome

Conflicting classifications of pathogenicity 395

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

  • c.1026+6T>A Single submitter hereditary breast ovarian cancer syndrome
  • c.1026+8T>A Single submitter Fanconi anemia complementation group O
  • c.1027-3C>T Single submitter hereditary neoplastic syndrome
  • c.146-13A>G Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.146-2A>G Single submitter Fanconi anemia complementation group O ⚠
  • c.146-3C>T Single submitter hereditary neoplastic syndrome
  • c.404+13G>A Single submitter hereditary neoplastic syndrome
  • c.404+16C>G Single submitter hereditary breast ovarian cancer syndrome
  • c.404+5A>T Single submitter Fanconi anemia complementation group O
  • c.404+6_404+10del Single submitter hereditary neoplastic syndrome
  • c.404+7T>C Single submitter hereditary neoplastic syndrome
  • c.405-5G>A Single submitter hereditary neoplastic syndrome
  • c.405-6T>A Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.571+4A>G Single submitter Inherited ovarian cancer (without breast cancer)
  • c.571+5G>A Single submitter hereditary neoplastic syndrome
  • c.571+9G>C Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.572-11del Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.572-3C>G Single submitter hereditary neoplastic syndrome
  • c.572-7G>A Single submitter Fanconi anemia complementation group O
  • c.706-13C>G Single submitter hereditary neoplastic syndrome
  • c.837+2dup Single submitter Fanconi anemia complementation group O ⚠
  • c.837+4_837+7del Single submitter hereditary neoplastic syndrome
  • c.838-5T>C Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.904+17A>G Single submitter Fanconi anemia complementation group O
  • c.904+2T>C Single submitter hereditary neoplastic syndrome ⚠
  • c.904+4G>A Single submitter hereditary neoplastic syndrome
  • c.905-13T>G Single submitter hereditary neoplastic syndrome
  • c.905-20A>G Single submitter Fanconi anemia complementation group O
  • c.905-2A>G Single submitter hereditary neoplastic syndrome ⚠
  • c.905-5C>G Single submitter hereditary neoplastic syndrome
  • c.905-6T>C Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.965+19T>C Single submitter hereditary neoplastic syndrome
  • c.966-12T>C Single submitter familial ovarian cancer
  • c.966-1G>A Single submitter hereditary neoplastic syndrome ⚠
  • c.966-1G>C Single submitter Fanconi anemia complementation group O ⚠
  • c.966-8T>G Single submitter Fanconi anemia complementation group O
  • c.-19G>A Single submitter hereditary neoplastic syndrome
  • c.-19G>T Single submitter hereditary neoplastic syndrome
  • c.-4T>A Single submitter hereditary neoplastic syndrome
  • c.-7G>A Single submitter hereditary neoplastic syndrome
  • c.-7G>C Single submitter hereditary neoplastic syndrome
  • c.*1C>A Single submitter hereditary neoplastic syndrome
  • c.*2C>G Single submitter hereditary neoplastic syndrome
  • c.*4A>G Single submitter hereditary neoplastic syndrome
  • c.*6A>G Single submitter hereditary neoplastic syndrome
  • p.Ala106Val Single submitter breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Ala126Val Single submitter Fanconi anemia complementation group O ⚠
  • p.Ala152Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala152Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala175Ser Single submitter Fanconi anemia complementation group O ⚠
  • p.Ala175Thr Single submitter familial ovarian cancer ⚠
  • p.Ala184Thr Single submitter Fanconi anemia complementation group O ⚠
  • p.Ala22Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala245Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala279Pro Single submitter RAD51C-related disorder ⚠
  • p.Ala295Gly Single submitter Fanconi anemia complementation group O ⚠
  • p.Ala295Thr Single submitter breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Ala295Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala308Gly Single submitter RAD51C-related disorder ⚠
  • p.Ala308Ser Single submitter RAD51C-related disorder ⚠
  • p.Ala30Ser Single submitter Fanconi anemia complementation group O ⚠
  • p.Ala30Val Single submitter Fanconi anemia complementation group O ⚠
  • p.Ala324= Single submitter Fanconi anemia complementation group O
  • p.Ala354Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala354Val Single submitter familial ovarian cancer ⚠
  • p.Ala35Gly Single submitter Fanconi anemia complementation group O ⚠
  • p.Ala35Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala35Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala55Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala55Val Single submitter breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Ala57Thr Single submitter hereditary neoplastic syndrome
  • p.Arg12Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg12Gly Single submitter Fanconi anemia complementation group O
  • p.Arg12Pro Single submitter breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Arg12Trp Single submitter Fanconi anemia complementation group O
  • p.Arg168Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg168Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg193Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg193Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg237Gln Single submitter familial ovarian cancer ⚠
  • p.Arg237Pro Single submitter Fanconi anemia complementation group O ⚠
  • p.Arg249His Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg24Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg260Gln Single submitter breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Arg277Thr Single submitter Fanconi anemia complementation group O ⚠
  • p.Arg292Gly Single submitter Fanconi anemia complementation group O ⚠
  • p.Arg292Lys Single submitter breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Arg2Cys Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg2Gly Single submitter breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Arg2His Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg312Gln Single submitter familial ovarian cancer
  • p.Arg312Gly Single submitter breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Arg312Trp Single submitter breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Arg319Gln Single submitter Fanconi anemia complementation group O ⚠
  • p.Arg319Gly Single submitter Breast and/or ovarian cancer ⚠
  • p.Arg322Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg347Ter Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg366Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg366Trp Single submitter breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Arg368Trp Single submitter familial ovarian cancer ⚠
  • p.Arg370Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg65Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg65Thr Single submitter breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Arg74= Single submitter hereditary neoplastic syndrome
  • p.Arg7Cys Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg7Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg7His Single submitter Fanconi anemia complementation group O ⚠
  • p.Arg7Pro Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg7Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn263His Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn274Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn275Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn71Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn71Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn71Tyr Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp108Gly Single submitter hereditary breast ovarian cancer syndrome ⚠
  • p.Asp108His Single submitter Fanconi anemia complementation group O ⚠
  • p.Asp109Gly Single submitter Fanconi anemia complementation group O ⚠
  • p.Asp109Tyr Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp13Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp159Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp167Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp167Tyr Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp171Asn Single submitter Fanconi anemia complementation group O ⚠
  • p.Asp242Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp242Tyr Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp242Val Single submitter breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Asp251Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp253Gly Single submitter breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Asp254Glu Single submitter Fanconi anemia complementation group O ⚠
  • p.Asp254Tyr Single submitter hereditary neoplastic syndrome
  • p.Asp291Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp291Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp318Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp318His Single submitter hereditary neoplastic syndrome ⚠
  • p.Cys104Tyr Single submitter hereditary neoplastic syndrome ⚠
  • p.Cys135Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Cys135Trp Single submitter Fanconi anemia complementation group O ⚠
  • p.Cys147Tyr Single submitter hereditary neoplastic syndrome ⚠
  • p.Cys335Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Cys335Tyr Single submitter hereditary neoplastic syndrome ⚠
  • p.Cys355Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Cys355Tyr Single submitter hereditary neoplastic syndrome ⚠
  • p.Cys85Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Cys85Gly Single submitter Fanconi anemia complementation group O ⚠
  • p.Cys85Tyr Single submitter Fanconi anemia complementation group O ⚠
  • p.Gln11Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln11His Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln133Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln143Arg Single submitter familial ovarian cancer ⚠
  • p.Gln178Arg Single submitter Fanconi anemia complementation group O ⚠
  • p.Gln181Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln181His Single submitter Fanconi anemia complementation group O ⚠
  • p.Gln268Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln268His Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln268Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln285His Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln321Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln33His Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln344Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln358Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln358Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln358Ter Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln62Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln62His Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln97Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln97Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu161Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu185Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu303Lys Single submitter ovarian cancer ⚠
  • p.Glu360fs Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu36Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu36Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu373Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu373Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu374Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu375Lys Single submitter Fanconi anemia complementation group O ⚠
  • p.Glu40Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu40Lys Single submitter breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Glu45Ala Single submitter Fanconi anemia complementation group O ⚠
  • p.Glu45Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu45Gly Single submitter familial ovarian cancer ⚠
  • p.Glu45Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu49Lys Single submitter breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Glu56Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu67Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu67Gly Single submitter breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Glu80Asp Single submitter Fanconi anemia complementation group O ⚠
  • p.Glu89Lys Single submitter breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Glu92Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu92Lys Single submitter breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Glu9Val Single submitter Hereditary cancer ⚠
  • p.Gly112Ala Single submitter Hereditary cancer ⚠
  • p.Gly112Glu Single submitter hereditary neoplastic syndrome
  • p.Gly113Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly114Arg Single submitter hereditary breast ovarian cancer syndrome ⚠
  • p.Gly114Val Single submitter breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Gly125Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly130Ala Single submitter breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Gly130Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly130Glu Single submitter breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Gly150Arg Single submitter breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Gly150del Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Gly150Glu Single submitter breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Gly153Asp Single submitter breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Gly162Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly243Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly243Ser Single submitter Fanconi anemia complementation group O ⚠
  • p.Gly264Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly302= Single submitter Fanconi anemia complementation group O
  • p.Gly302Arg Single submitter hereditary breast ovarian cancer syndrome ⚠
  • p.Gly302Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly3Arg Single submitter familial ovarian cancer ⚠
  • p.Gly3Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly3Trp Single submitter Fanconi anemia complementation group O ⚠
  • p.Gly51Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly51Val Single submitter hereditary neoplastic syndrome
  • p.Gly77Ala Single submitter Fanconi anemia complementation group O ⚠
  • p.Gly77Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly98Ala Single submitter breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.His179Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.His187Arg Single submitter Fanconi anemia complementation group O ⚠
  • p.His207Tyr Single submitter hereditary breast carcinoma ⚠
  • p.His250Arg Single submitter Fanconi anemia complementation group O ⚠
  • p.His250Tyr Single submitter hereditary neoplastic syndrome ⚠
  • p.His276Asn Single submitter Fanconi anemia complementation group O ⚠
  • p.His276Tyr Single submitter breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.His316fs Single submitter breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.His82Arg Single submitter breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.His82Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.His82Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.His82Tyr Single submitter Breast and/or ovarian cancer ⚠
  • p.His95Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile100Val Single submitter Fanconi anemia complementation group O ⚠
  • p.Ile101Val Single submitter Fanconi anemia complementation group O ⚠
  • p.Ile110Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile110Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile123Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile144Met Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile144Thr Single submitter RAD51C-related disorder ⚠
  • p.Ile158Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile177Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile183Thr Single submitter breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Ile183Val Single submitter Fanconi anemia complementation group O ⚠
  • p.Ile204Met Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile240Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile240Thr Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Ile244Val Single submitter familial ovarian cancer ⚠
  • p.Ile281Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile290Met Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile290Thr Single submitter breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Ile311Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile311Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile52Leu Single submitter breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Ile63Met Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile63Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile64Phe Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile64Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu111Pro Single submitter Fanconi anemia complementation group O ⚠
  • p.Leu117Phe Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu205Ile Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu238Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu252Pro Single submitter hereditary neoplastic syndrome
  • p.Leu255Pro Single submitter hereditary neoplastic syndrome
  • p.Leu257Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu262Val Single submitter Breast and/or ovarian cancer
  • p.Leu278Ser Single submitter Fanconi anemia complementation group O ⚠
  • p.Leu27Pro Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu297Phe Single submitter hereditary neoplastic syndrome
  • p.Leu297Pro Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Leu323= Single submitter hereditary neoplastic syndrome
  • p.Leu323Trp Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu376= Single submitter hereditary neoplastic syndrome
  • p.Leu376Ile Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu38Phe Single submitter Fanconi anemia complementation group O ⚠
  • p.Leu39Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu69Pro Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu90Arg Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Leu90Phe Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys119Arg Single submitter Fanconi anemia complementation group O ⚠
  • p.Lys131Gln Single submitter breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Lys131Ile Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys188Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys188Met Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys26Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys26Met Single submitter hereditary neoplastic syndrome
  • p.Lys289Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys320Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys320Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys4Gln Single submitter Fanconi anemia complementation group O ⚠
  • p.Lys4Glu Single submitter Fanconi anemia complementation group O ⚠
  • p.Lys54Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys72Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys83Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys83Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys84Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Met136Leu Single submitter familial ovarian cancer ⚠
  • p.Met136Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Met165Val Single submitter Fanconi anemia complementation group O ⚠
  • p.Met269Leu Single submitter familial ovarian cancer ⚠

Benign 78

  • c.405-49C>T Multiple submitters
  • c.572-98C>G Multiple submitters
  • c.904+34T>C Multiple submitters Fanconi anemia complementation group O
  • c.1026+176C>T Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.404+10dup Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.405-220T>C Single submitter
  • c.572-23_572-20del Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.837+351dup Single submitter
  • c.838-319del Single submitter
  • c.905-20dup Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.905-9del Single submitter Fanconi anemia complementation group O
  • c.965+3C>T Single submitter hereditary neoplastic syndrome
  • c.966-20_966-17del Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.-41T>C Single submitter
  • c.-48G>T Single submitter
  • c.*1C>T Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.*2C>T Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.*6A>C Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.*8A>G Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.*9C>G Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Ala139Ser Single submitter hereditary neoplastic syndrome
  • p.Ala76Pro Single submitter hereditary neoplastic syndrome
  • p.Arg312= Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Arg319= Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Arg347= Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Arg366Gly Single submitter hereditary neoplastic syndrome
  • p.Arg66= Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Arg66Gly Single submitter hereditary neoplastic syndrome
  • p.Asn275His Single submitter hereditary neoplastic syndrome
  • p.Asp13= Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Asp171Glu Single submitter hereditary neoplastic syndrome
  • p.Asp202His Single submitter hereditary neoplastic syndrome
  • p.Cys104= Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Cys68Arg Single submitter hereditary neoplastic syndrome
  • p.Gln137= Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Gln181Glu Single submitter hereditary neoplastic syndrome
  • p.Glu146Ala Single submitter hereditary neoplastic syndrome
  • p.Glu154Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu191Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu197Asp Single submitter hereditary neoplastic syndrome
  • p.Glu303Gln Single submitter hereditary neoplastic syndrome
  • p.Glu36Gly Single submitter ovarian cancer
  • p.Glu56= Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Glu89= Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Glu9Asp Single submitter hereditary neoplastic syndrome
  • p.Glu9Lys Single submitter hereditary neoplastic syndrome
  • p.Gly189Arg Single submitter hereditary neoplastic syndrome
  • p.His233= Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.His95Leu Single submitter hereditary neoplastic syndrome
  • p.Ile281= Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Ile314= Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Ile52= Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Ile63Phe Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu172Val Single submitter hereditary neoplastic syndrome
  • p.Leu219= Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Leu282= Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Leu296Trp Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys194= Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Lys72Thr Single submitter hereditary neoplastic syndrome
  • p.Lys84Met Single submitter hereditary neoplastic syndrome
  • p.Phe99Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro372Arg Single submitter hereditary neoplastic syndrome
  • p.Pro73Arg Single submitter hereditary neoplastic syndrome
  • p.Ser16Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser353Cys Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser369= Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Ser44= Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Ser79Pro Single submitter hereditary neoplastic syndrome
  • p.Ser81Ala Single submitter hereditary neoplastic syndrome
  • p.Ter377= Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Thr259Ile Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr288Ile Single submitter hereditary neoplastic syndrome
  • p.Thr78Ala Single submitter hereditary neoplastic syndrome
  • p.Val115= Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • p.Val15Met Single submitter hereditary neoplastic syndrome
  • p.Val298Phe Single submitter hereditary neoplastic syndrome ⚠
  • p.Val350Gly Single submitter hereditary neoplastic syndrome
  • p.Val41= Single submitter breast-ovarian cancer, familial, susceptibility to, 3

Benign/Likely benign 152

  • c.1026+13T>C Multiple submitters hereditary neoplastic syndrome
  • c.1027-10del Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.1027-10dup Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.1027-23TA[5] Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.146-8A>G Multiple submitters Breast and/or ovarian cancer
  • c.146-9del Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.405-21_405-18del Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.571+16A>G Multiple submitters Breast and/or ovarian cancer
  • c.572-16T>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.572-17G>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.706-18T>C Multiple submitters hereditary neoplastic syndrome
  • c.837+13T>C Multiple submitters hereditary neoplastic syndrome
  • c.905-19T>C Multiple submitters Fanconi anemia complementation group O
  • c.-13A>G Multiple submitters hereditary neoplastic syndrome
  • c.-26C>T Multiple submitters hereditary neoplastic syndrome
  • c.*25C>G Multiple submitters
  • p.Ala106= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Ala126Thr Multiple submitters Breast and/or ovarian cancer ⚠
  • p.Ala173= Multiple submitters hereditary neoplastic syndrome
  • p.Ala184= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Ala195= Multiple submitters hereditary neoplastic syndrome
  • p.Ala22= Multiple submitters hereditary neoplastic syndrome
  • p.Ala295= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Ala30= Multiple submitters Breast and/or ovarian cancer
  • p.Ala300= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Ala309= Multiple submitters Fanconi anemia complementation group O
  • p.Ala35= Multiple submitters hereditary neoplastic syndrome
  • p.Ala354= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Arg12= Multiple submitters hereditary neoplastic syndrome
  • p.Arg168= Multiple submitters hereditary neoplastic syndrome
  • p.Arg193= Multiple submitters familial ovarian cancer
  • p.Arg2= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Arg237= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Arg258= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Arg260= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Arg370= Multiple submitters hereditary neoplastic syndrome
  • p.Arg65= Multiple submitters hereditary neoplastic syndrome
  • p.Arg7= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Asn203= Multiple submitters hereditary neoplastic syndrome
  • p.Asp141= Multiple submitters hereditary neoplastic syndrome
  • p.Asp159= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Asp167= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Asp171= Multiple submitters Breast and/or ovarian cancer
  • p.Asp251= Multiple submitters hereditary neoplastic syndrome
  • p.Asp291= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Asp318= Multiple submitters hereditary neoplastic syndrome
  • p.Cys335= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Cys85= Multiple submitters hereditary neoplastic syndrome
  • p.Gln11= Multiple submitters hereditary neoplastic syndrome
  • p.Gln178= Multiple submitters hereditary neoplastic syndrome
  • p.Gln332= Multiple submitters hereditary neoplastic syndrome
  • p.Gln62= Multiple submitters Breast and/or ovarian cancer
  • p.Gln93= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Glu146= Multiple submitters hereditary neoplastic syndrome
  • p.Glu190= Multiple submitters Fanconi anemia complementation group O
  • p.Glu197= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Glu303= Multiple submitters hereditary neoplastic syndrome
  • p.Glu37= Multiple submitters hereditary neoplastic syndrome
  • p.Glu373= Multiple submitters hereditary neoplastic syndrome
  • p.Glu374= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Glu375= Multiple submitters hereditary neoplastic syndrome
  • p.Glu45= Multiple submitters Fanconi anemia complementation group O
  • p.Glu67= Multiple submitters hereditary neoplastic syndrome
  • p.Glu80= Multiple submitters hereditary neoplastic syndrome
  • p.Glu92= Multiple submitters Fanconi anemia complementation group O
  • p.Gly112= Multiple submitters Breast and/or ovarian cancer
  • p.Gly113= Multiple submitters Fanconi anemia complementation group O
  • p.Gly114= Multiple submitters hereditary neoplastic syndrome
  • p.Gly125= Multiple submitters hereditary neoplastic syndrome
  • p.Gly130= Multiple submitters hereditary neoplastic syndrome
  • p.Gly162= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Gly189= Multiple submitters Fanconi anemia complementation group O
  • p.Gly3= Multiple submitters hereditary neoplastic syndrome
  • p.Gly306= Multiple submitters Fanconi anemia complementation group O
  • p.Gly31= Multiple submitters Fanconi anemia complementation group O
  • p.Gly345= Multiple submitters hereditary neoplastic syndrome
  • p.Gly51= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.His179= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.His187= Multiple submitters hereditary neoplastic syndrome
  • p.His316= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.His316Tyr Multiple submitters hereditary neoplastic syndrome
  • p.His82= Multiple submitters Fanconi anemia complementation group O
  • p.Ile101= Multiple submitters Fanconi anemia complementation group O
  • p.Ile158= Multiple submitters hereditary neoplastic syndrome
  • p.Ile341= Multiple submitters hereditary neoplastic syndrome
  • p.Ile63= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Leu107= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Leu111= Multiple submitters Fanconi anemia complementation group O
  • p.Leu117= Multiple submitters hereditary neoplastic syndrome
  • p.Leu134= Multiple submitters hereditary neoplastic syndrome
  • p.Leu138= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Leu196= Multiple submitters hereditary neoplastic syndrome
  • p.Leu238= Multiple submitters hereditary neoplastic syndrome
  • p.Leu252= Multiple submitters hereditary neoplastic syndrome
  • p.Leu261= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Leu262= Multiple submitters hereditary neoplastic syndrome
  • p.Leu27= Multiple submitters hereditary neoplastic syndrome
  • p.Leu313= Multiple submitters hereditary neoplastic syndrome
  • p.Leu326= Multiple submitters Fanconi anemia complementation group O
  • p.Leu357= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Leu363= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Leu38= Multiple submitters hereditary neoplastic syndrome
  • p.Leu88= Multiple submitters hereditary neoplastic syndrome
  • p.Leu90= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Lys119= Multiple submitters hereditary neoplastic syndrome
  • p.Lys188= Multiple submitters hereditary neoplastic syndrome
  • p.Lys26= Multiple submitters hereditary neoplastic syndrome
  • p.Lys320= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Lys328= Multiple submitters Fanconi anemia complementation group O
  • p.Lys333= Multiple submitters hereditary neoplastic syndrome
  • p.Lys4= Multiple submitters hereditary neoplastic syndrome
  • p.Lys42= Multiple submitters hereditary neoplastic syndrome
  • p.Lys83= Multiple submitters hereditary neoplastic syndrome
  • p.Lys84= Multiple submitters Fanconi anemia complementation group O
  • p.Phe157= Multiple submitters hereditary neoplastic syndrome
  • p.Phe17= Multiple submitters hereditary neoplastic syndrome
  • p.Phe315= Multiple submitters Breast and/or ovarian cancer
  • p.Phe32= Multiple submitters hereditary neoplastic syndrome
  • p.Phe6= Multiple submitters hereditary neoplastic syndrome
  • p.Pro18= Multiple submitters Fanconi anemia complementation group O
  • p.Pro21= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Pro247= Multiple submitters hereditary neoplastic syndrome
  • p.Pro372= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Ser163= Multiple submitters hereditary neoplastic syndrome
  • p.Ser20= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Ser271= Multiple submitters hereditary neoplastic syndrome
  • p.Ser304= Multiple submitters hereditary neoplastic syndrome
  • p.Ser356= Multiple submitters hereditary neoplastic syndrome
  • p.Ser362= Multiple submitters hereditary neoplastic syndrome
  • p.Ser47= Multiple submitters Fanconi anemia complementation group O
  • p.Thr102= Multiple submitters hereditary neoplastic syndrome
  • p.Thr120= Multiple submitters hereditary neoplastic syndrome
  • p.Thr121= Multiple submitters hereditary neoplastic syndrome
  • p.Thr132= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Thr160= Multiple submitters Fanconi anemia complementation group O
  • p.Thr283= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Thr287Ala Multiple submitters Breast and/or ovarian cancer ⚠
  • p.Thr288= Multiple submitters Fanconi anemia complementation group O
  • p.Thr34= Multiple submitters hereditary neoplastic syndrome
  • p.Thr359= Multiple submitters hereditary neoplastic syndrome
  • p.Thr96= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr75= Multiple submitters hereditary neoplastic syndrome
  • p.Val140= Multiple submitters hereditary neoplastic syndrome
  • p.Val142= Multiple submitters hereditary neoplastic syndrome
  • p.Val15= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Val151= Multiple submitters hereditary neoplastic syndrome
  • p.Val169= Multiple submitters Fanconi anemia complementation group O
  • p.Val170= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Val239= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • p.Val241= Multiple submitters hereditary neoplastic syndrome
  • p.Val25= Multiple submitters hereditary neoplastic syndrome
  • p.Val280= Multiple submitters hereditary neoplastic syndrome

Likely benign 386

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

  • c.1026+15A>G Multiple submitters Fanconi anemia complementation group O
  • c.1026+43C>T Multiple submitters Fanconi anemia complementation group O
  • c.1026+9T>G Multiple submitters Fanconi anemia complementation group O
  • c.1027-16A>G Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.1027-17T>C Multiple submitters hereditary neoplastic syndrome
  • c.1027-18A>G Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.1027-9A>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.146-17del Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.146-17T>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.146-4T>C Multiple submitters Fanconi anemia complementation group O
  • c.146-8A>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.404+16C>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.404+44_404+45del Multiple submitters hereditary breast ovarian cancer syndrome
  • c.404+63_404+71dup Multiple submitters hereditary breast ovarian cancer syndrome
  • c.404+8A>G Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.405-15T>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.405-16A>G Multiple submitters Fanconi anemia complementation group O
  • c.405-18T>C Multiple submitters Fanconi anemia complementation group O
  • c.405-19G>A Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.405-7T>C Multiple submitters Fanconi anemia complementation group O
  • c.405-8G>A Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.571+15G>T Multiple submitters Fanconi anemia complementation group O
  • c.571+18C>T Multiple submitters hereditary neoplastic syndrome
  • c.571+20T>C Multiple submitters Fanconi anemia complementation group O
  • c.571+21_571+23del Multiple submitters Fanconi anemia complementation group O
  • c.571+7T>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.571+9G>A Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.572-10G>A Multiple submitters Fanconi anemia complementation group O
  • c.572-11T>G Multiple submitters hereditary neoplastic syndrome
  • c.572-15_572-14del Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.572-15G>A Multiple submitters Fanconi anemia complementation group O
  • c.572-17G>A Multiple submitters hereditary neoplastic syndrome
  • c.572-20A>C Multiple submitters hereditary neoplastic syndrome
  • c.572-21_572-16del Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.572-8T>C Multiple submitters Fanconi anemia complementation group O
  • c.706-10C>T Multiple submitters Fanconi anemia complementation group O
  • c.706-16T>C Multiple submitters hereditary neoplastic syndrome
  • c.706-17A>G Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.706-18_706-16del Multiple submitters hereditary neoplastic syndrome
  • c.706-20A>G Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.706-4T>A Multiple submitters Fanconi anemia complementation group O
  • c.706-5T>C Multiple submitters Fanconi anemia complementation group O
  • c.706-6A>G Multiple submitters hereditary neoplastic syndrome
  • c.706-7T>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.706-9T>C Multiple submitters Fanconi anemia complementation group O
  • c.837+14A>G Multiple submitters Fanconi anemia complementation group O
  • c.837+16T>G Multiple submitters Fanconi anemia complementation group O
  • c.837+7A>G Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.838-14T>C Multiple submitters Fanconi anemia complementation group O
  • c.838-15A>G Multiple submitters hereditary neoplastic syndrome
  • c.838-16C>T Multiple submitters Fanconi anemia complementation group O
  • c.838-18T>A Multiple submitters Fanconi anemia complementation group O
  • c.838-19T>C Multiple submitters Fanconi anemia complementation group O
  • c.838-20C>G Multiple submitters Fanconi anemia complementation group O
  • c.838-4G>T Multiple submitters Fanconi anemia complementation group O
  • c.904+16G>C Multiple submitters Fanconi anemia complementation group O
  • c.904+17A>C Multiple submitters hereditary neoplastic syndrome
  • c.904+7A>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.904+8A>G Multiple submitters Fanconi anemia complementation group O
  • c.905-16T>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.905-18_905-16del Multiple submitters hereditary neoplastic syndrome
  • c.905-4T>C Multiple submitters hereditary neoplastic syndrome
  • c.905-5C>T Multiple submitters hereditary neoplastic syndrome
  • c.905-7C>T Multiple submitters hereditary neoplastic syndrome
  • c.965+10G>A Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.965+10G>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.965+20_965+21delinsGT Multiple submitters hereditary neoplastic syndrome
  • c.965+21A>G Multiple submitters hereditary neoplastic syndrome
  • c.965+7A>G Multiple submitters hereditary neoplastic syndrome
  • c.965+8C>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.966-16C>A Multiple submitters hereditary neoplastic syndrome
  • c.966-17T>A Multiple submitters hereditary neoplastic syndrome
  • c.966-17T>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.966-4G>A Multiple submitters hereditary neoplastic syndrome
  • c.966-4G>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.-36A>G Multiple submitters
  • c.-8A>G Multiple submitters hereditary neoplastic syndrome
  • p.Ala273= Multiple submitters hereditary neoplastic syndrome
  • p.Ala279= Multiple submitters Fanconi anemia complementation group O
  • p.Ala55= Multiple submitters hereditary neoplastic syndrome
  • p.Arg24= Multiple submitters hereditary neoplastic syndrome
  • p.Asn293= Multiple submitters Fanconi anemia complementation group O
  • p.Cys135= Multiple submitters hereditary neoplastic syndrome
  • p.Gln143= Multiple submitters Fanconi anemia complementation group O
  • p.Gln267= Multiple submitters hereditary neoplastic syndrome
  • p.Gln344= Multiple submitters hereditary neoplastic syndrome
  • p.Glu161= Multiple submitters hereditary neoplastic syndrome
  • p.Glu191= Multiple submitters hereditary neoplastic syndrome
  • p.Glu36= Multiple submitters Fanconi anemia complementation group O
  • p.Glu94= Multiple submitters Fanconi anemia complementation group O
  • p.Gly149= Multiple submitters hereditary neoplastic syndrome
  • p.Gly98= Multiple submitters hereditary neoplastic syndrome
  • p.His250= Multiple submitters hereditary neoplastic syndrome
  • p.Ile64= Multiple submitters Fanconi anemia complementation group O
  • p.Leu58= Multiple submitters hereditary neoplastic syndrome
  • p.Lys131= Multiple submitters hereditary neoplastic syndrome
  • p.Lys186= Multiple submitters Fanconi anemia complementation group O
  • p.Lys367= Multiple submitters hereditary neoplastic syndrome
  • p.Phe99= Multiple submitters hereditary neoplastic syndrome
  • p.Pro116= Multiple submitters hereditary neoplastic syndrome
  • p.Pro127= Multiple submitters Fanconi anemia complementation group O
  • p.Ser364= Multiple submitters Fanconi anemia complementation group O
  • p.Thr325= Multiple submitters Fanconi anemia complementation group O
  • p.Thr336= Multiple submitters hereditary neoplastic syndrome
  • p.Thr365= Multiple submitters Fanconi anemia complementation group O
  • p.Thr70= Multiple submitters hereditary neoplastic syndrome
  • p.Thr86= Multiple submitters hereditary neoplastic syndrome
  • p.Val23= Multiple submitters hereditary neoplastic syndrome
  • p.Val298= Multiple submitters Fanconi anemia complementation group O
  • c.1026+11T>C Single submitter Fanconi anemia complementation group O
  • c.1026+13T>G Single submitter Fanconi anemia complementation group O
  • c.1026+14G>T Single submitter Fanconi anemia complementation group O
  • c.1026+20A>C Single submitter Fanconi anemia complementation group O
  • c.1027-10T>A Single submitter Fanconi anemia complementation group O
  • c.1027-10T>C Single submitter Fanconi anemia complementation group O
  • c.1027-11T>G Single submitter Fanconi anemia complementation group O
  • c.1027-13T>G Single submitter Fanconi anemia complementation group O
  • c.1027-14T>A Single submitter Fanconi anemia complementation group O
  • c.1027-15T>A Single submitter hereditary neoplastic syndrome
  • c.1027-15T>C Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.1027-19T>C Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.1027-20A>G Single submitter hereditary neoplastic syndrome
  • c.1027-24G>A Single submitter
  • c.1027-28A>G Single submitter
  • c.1027-7C>T Single submitter Fanconi anemia complementation group O
  • c.1027-8T>C Single submitter Fanconi anemia complementation group O
  • c.1027-9A>T Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.146-12T>C Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.146-13A>C Single submitter Fanconi anemia complementation group O
  • c.146-15T>G Single submitter Fanconi anemia complementation group O
  • c.146-19_146-14del Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.146-20T>C Single submitter Fanconi anemia complementation group O
  • c.146-29G>C Single submitter
  • c.146-40C>G Single submitter
  • c.146-45T>C Single submitter
  • c.146-49C>G Single submitter
  • c.146-6T>C Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.146-7C>T Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.146-9T>A Single submitter Fanconi anemia complementation group O
  • c.146-9T>G Single submitter Fanconi anemia complementation group O
  • c.404+10A>C Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.404+10A>G Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.404+11G>C Single submitter hereditary neoplastic syndrome
  • c.404+12T>G Single submitter Fanconi anemia complementation group O
  • c.404+13dup Single submitter Fanconi anemia complementation group O
  • c.404+15del Single submitter Fanconi anemia complementation group O
  • c.404+15T>G Single submitter Fanconi anemia complementation group O
  • c.404+16C>A Single submitter Fanconi anemia complementation group O
  • c.404+17T>C Single submitter Fanconi anemia complementation group O
  • c.404+18_404+20del Single submitter Fanconi anemia complementation group O
  • c.404+18C>T Single submitter Fanconi anemia complementation group O
  • c.404+42A>G Single submitter
  • c.404+44A>C Single submitter
  • c.404+44A>G Single submitter hereditary breast ovarian cancer syndrome
  • c.404+6A>G Single submitter Fanconi anemia complementation group O
  • c.404+7_404+10del Single submitter Fanconi anemia complementation group O
  • c.404+8_404+10delinsT Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.404+9_404+10del Single submitter Fanconi anemia complementation group O
  • c.404+91A>G Single submitter hereditary breast ovarian cancer syndrome
  • c.404+92T>C Single submitter hereditary breast ovarian cancer syndrome
  • c.405-10C>G Single submitter Fanconi anemia complementation group O
  • c.405-10C>T Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.405-17C>T Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.405-18T>G Single submitter Fanconi anemia complementation group O
  • c.405-19G>T Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.405-20T>G Single submitter Fanconi anemia complementation group O
  • c.405-22T>C Single submitter
  • c.405-22T>G Single submitter
  • c.405-282C>T Single submitter
  • c.405-6T>C Single submitter Fanconi anemia complementation group O
  • c.405-8G>C Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.405-8G>T Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.571+11A>G Single submitter Fanconi anemia complementation group O
  • c.571+12A>G Single submitter Fanconi anemia complementation group O
  • c.571+13A>G Single submitter Fanconi anemia complementation group O
  • c.571+14T>C Single submitter Fanconi anemia complementation group O
  • c.571+15_571+16insCA Single submitter Fanconi anemia complementation group O
  • c.571+15G>A Single submitter Fanconi anemia complementation group O
  • c.571+16A>T Single submitter Fanconi anemia complementation group O
  • c.571+17T>C Single submitter Fanconi anemia complementation group O
  • c.571+18_571+19delinsGA Single submitter Fanconi anemia complementation group O
  • c.571+18C>G Single submitter Fanconi anemia complementation group O
  • c.571+64C>A Single submitter Hereditary cancer
  • c.571+7del Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.571+8A>G Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.572-13T>G Single submitter Fanconi anemia complementation group O
  • c.572-14T>G Single submitter Fanconi anemia complementation group O
  • c.572-16T>G Single submitter Fanconi anemia complementation group O
  • c.572-18A>G Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.572-22T>G Single submitter
  • c.572-36C>G Single submitter
  • c.572-49C>T Single submitter
  • c.572-8del Single submitter Fanconi anemia complementation group O
  • c.705+8T>A Single submitter hereditary neoplastic syndrome
  • c.706-11T>G Single submitter Fanconi anemia complementation group O
  • c.706-12T>A Single submitter Fanconi anemia complementation group O
  • c.706-15C>G Single submitter Fanconi anemia complementation group O
  • c.706-15C>T Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.706-17A>C Single submitter Fanconi anemia complementation group O
  • c.706-19T>C Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.706-3T>C Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.706-57TTA[3] Single submitter
  • c.706-7T>G Single submitter Fanconi anemia complementation group O
  • c.706-9T>G Single submitter Fanconi anemia complementation group O
  • c.837+10A>C Single submitter Fanconi anemia complementation group O
  • c.837+11A>G Single submitter Fanconi anemia complementation group O
  • c.837+12C>G Single submitter Fanconi anemia complementation group O
  • c.837+12C>T Single submitter Fanconi anemia complementation group O
  • c.837+15G>A Single submitter Fanconi anemia complementation group O
  • c.837+16dup Single submitter Fanconi anemia complementation group O
  • c.837+17G>A Single submitter Fanconi anemia complementation group O
  • c.837+19A>G Single submitter Fanconi anemia complementation group O
  • c.837+20G>A Single submitter Fanconi anemia complementation group O
  • c.837+27T>G Single submitter
  • c.837+42G>A Single submitter
  • c.837+8_837+10dup Single submitter hereditary neoplastic syndrome
  • c.837+9T>G Single submitter Fanconi anemia complementation group O
  • c.838-10G>C Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.838-13_838-11del Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.838-13T>G Single submitter hereditary neoplastic syndrome
  • c.838-17A>G Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.838-20C>A Single submitter hereditary neoplastic syndrome
  • c.838-220A>G Single submitter
  • c.838-293T>C Single submitter
  • c.838-319_838-318del Single submitter
  • c.838-40A>G Single submitter
  • c.838-476G>T Single submitter
  • c.838-4del Single submitter Fanconi anemia complementation group O
  • c.838-4G>A Single submitter Fanconi anemia complementation group O
  • c.838-6T>C Single submitter Fanconi anemia complementation group O
  • c.838-9T>G Single submitter Fanconi anemia complementation group O
  • c.904+11A>T Single submitter Fanconi anemia complementation group O
  • c.904+12_904+15del Single submitter hereditary neoplastic syndrome
  • c.904+13T>A Single submitter Fanconi anemia complementation group O
  • c.904+14C>T Single submitter Fanconi anemia complementation group O
  • c.904+20A>C Single submitter Fanconi anemia complementation group O
  • c.904+21del Single submitter Fanconi anemia complementation group O
  • c.904+239G>A Single submitter
  • c.904+7A>G Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.905-14T>C Single submitter Fanconi anemia complementation group O
  • c.905-15del Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.905-15G>C Single submitter Fanconi anemia complementation group O
  • c.905-18T>G Single submitter Fanconi anemia complementation group O
  • c.905-20A>T Single submitter Fanconi anemia complementation group O
  • c.905-26_905-16del Single submitter hereditary neoplastic syndrome
  • c.905-30A>G Single submitter
  • c.905-44A>G Single submitter
  • c.905-4T>G Single submitter Fanconi anemia complementation group O
  • c.905-5C>A Single submitter Fanconi anemia complementation group O
  • c.905-8delinsTG Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.905-9T>C Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.965+10G>C Single submitter Fanconi anemia complementation group O
  • c.965+12A>G Single submitter hereditary neoplastic syndrome
  • c.965+17_965+21del Single submitter Fanconi anemia complementation group O
  • c.965+18T>A Single submitter Fanconi anemia complementation group O
  • c.965+28C>T Single submitter Fanconi anemia complementation group O
  • c.965+8C>G Single submitter Fanconi anemia complementation group O
  • c.966-14T>G Single submitter Fanconi anemia complementation group O
  • c.966-16_966-14del Single submitter Fanconi anemia complementation group O
  • c.966-16C>G Single submitter hereditary neoplastic syndrome
  • c.966-2169C>G Single submitter
  • c.966-2217T>C Single submitter
  • c.966-2226C>G Single submitter
  • c.966-2250G>A Single submitter
  • c.966-2280G>A Single submitter
  • c.966-2286C>T Single submitter
  • c.966-2289C>T Single submitter
  • c.966-27A>G Single submitter
  • c.966-9T>C Single submitter Fanconi anemia complementation group O
  • c.966-9T>G Single submitter Fanconi anemia complementation group O
  • c.-12G>C Single submitter hereditary neoplastic syndrome
  • c.-15G>T Single submitter hereditary neoplastic syndrome
  • c.-18T>C Single submitter hereditary neoplastic syndrome
  • c.-18T>G Single submitter hereditary neoplastic syndrome
  • c.-20G>A Single submitter hereditary neoplastic syndrome
  • c.-22G>C Single submitter
  • c.-24C>A Single submitter
  • c.-24C>G Single submitter
  • c.-24C>T Single submitter
  • c.-28T>G Single submitter
  • c.-29C>T Single submitter
  • c.-35del Single submitter
  • c.-39C>G Single submitter
  • c.-41T>A Single submitter
  • c.-49C>G Single submitter
  • c.-6C>T Single submitter hereditary neoplastic syndrome
  • c.*12del Single submitter hereditary neoplastic syndrome
  • c.*30T>G Single submitter
  • c.*40T>C Single submitter
  • c.*49A>G Single submitter
  • p.Ala126= Single submitter Fanconi anemia complementation group O
  • p.Ala139= Single submitter Fanconi anemia complementation group O
  • p.Ala152= Single submitter Fanconi anemia complementation group O
  • p.Ala221= Single submitter hereditary neoplastic syndrome
  • p.Ala273Thr Single submitter hereditary neoplastic syndrome
  • p.Ala279Ser Single submitter hereditary neoplastic syndrome
  • p.Ala308= Single submitter hereditary neoplastic syndrome
  • p.Ala308Val Single submitter hereditary neoplastic syndrome
  • p.Ala55Ser Single submitter hereditary neoplastic syndrome
  • p.Ala57= Single submitter Fanconi anemia complementation group O

Uncertain significance 657

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

  • c.1027-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.1027-2A>G Multiple submitters hereditary neoplastic syndrome
  • c.1027-3C>G Multiple submitters hereditary neoplastic syndrome
  • c.146-3C>G Multiple submitters hereditary neoplastic syndrome
  • c.146-7C>G Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3
  • c.404+3A>G Multiple submitters hereditary neoplastic syndrome
  • c.405-3C>T Multiple submitters hereditary neoplastic syndrome
  • c.571+3_571+6del Multiple submitters Fanconi anemia complementation group O
  • c.571+6T>G Multiple submitters Fanconi anemia complementation group O
  • c.706-9T>A Multiple submitters hereditary neoplastic syndrome
  • c.904+4G>T Multiple submitters Fanconi anemia complementation group O
  • c.965+4A>G Multiple submitters Fanconi anemia complementation group O
  • c.966-1G>T Multiple submitters Fanconi anemia complementation group O
  • c.966-2A>G Multiple submitters Fanconi anemia complementation group O
  • c.966-3C>T Multiple submitters hereditary neoplastic syndrome
  • c.-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.-1G>T Multiple submitters hereditary neoplastic syndrome
  • c.-2C>T Multiple submitters hereditary neoplastic syndrome
  • c.-3G>A Multiple submitters hereditary neoplastic syndrome
  • c.-3G>T Multiple submitters hereditary neoplastic syndrome
  • c.-5C>T Multiple submitters hereditary neoplastic syndrome
  • c.-7G>T Multiple submitters hereditary neoplastic syndrome
  • p.Ala106Thr Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Ala139Val Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Ala155Thr Multiple submitters RAD51C-related disorder ⚠
  • p.Ala173Pro Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Ala221Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala22Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala266Val Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Ala273Pro Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Ala273Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala279Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala295Asp Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Ala300Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala300Val Multiple submitters RAD51C-related disorder ⚠
  • p.Ala30Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala324Thr Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Ala35Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala57Gly Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Ala76Gly Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Ala76Thr Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Ala87Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala87Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala87Thr Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Arg237Leu Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Arg249Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg24Gly Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Arg24Leu Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Arg24Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg258Cys Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Arg258Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg260Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg260Trp Multiple submitters familial ovarian cancer
  • p.Arg292Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg292Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg319Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg322Lys Multiple submitters Fanconi anemia complementation group O
  • p.Arg322Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg368Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg368Leu Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Arg370Ter Multiple submitters hereditary neoplastic syndrome
  • p.Asn274Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn284Lys Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Asn284Ser Multiple submitters Fanconi anemia complementation group O
  • p.Asn293His Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Asn293Ser Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Asp13Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp141Gly Multiple submitters hereditary neoplastic syndrome
  • p.Asp141His Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Asp141Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp159Ala Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Asp159Asn Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Asp159Glu Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Asp167Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp167His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp198Tyr Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Asp242Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp291Glu Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Asp318Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp348fs Multiple submitters hereditary neoplastic syndrome
  • p.Asp348His Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Asp348Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp371fs Multiple submitters hereditary neoplastic syndrome
  • p.Cys124Gly Multiple submitters Fanconi anemia complementation group O
  • p.Cys124Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Cys124Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Cys176Arg Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Cys68Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln133Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln137His Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Gln137Pro Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Gln143Glu Multiple submitters hereditary neoplastic syndrome
  • p.Gln178His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln178Lys Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Gln178Pro Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Gln285Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln332Lys Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Gln33Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu122Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu154Lys Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Glu161Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu161Val Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Glu190Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu197Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu334Lys Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Glu37Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu37Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu37Lys Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Glu89Gly Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Glu94Lys Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Glu9Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly112Val Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Gly113Arg Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Gly113Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly125Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly128Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly128Arg Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Gly128Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly128Val Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Gly149Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly243Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly264Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly306Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly31Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly98Val Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.His179Arg Multiple submitters hereditary neoplastic syndrome
  • p.His179Asn Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.His187Gln Multiple submitters Fanconi anemia complementation group O ⚠
  • p.His192Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His307Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His307Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His316Arg Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.His316Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His82Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His95Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His95Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His95Tyr Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Ile100Lys Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Ile144Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile144Val Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Ile158Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile240Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile270Met Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile270Val Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Ile290Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile314Met Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Ile52Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile52Met Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Ile64del Multiple submitters hereditary neoplastic syndrome
  • p.Leu111Phe Multiple submitters hereditary neoplastic syndrome
  • p.Leu172Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu180Arg Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Leu180Phe Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Leu182Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu19Pro Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Leu265Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu272Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu278Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu301Val Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Leu326del Multiple submitters Fanconi anemia complementation group O
  • p.Leu326Phe Multiple submitters Fanconi anemia complementation group O
  • p.Leu326Ser Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Leu338_Lys342delinsGln Multiple submitters hereditary neoplastic syndrome
  • p.Leu357Trp Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Leu376del Multiple submitters hereditary neoplastic syndrome
  • p.Leu38Pro Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Leu46Phe Multiple submitters hereditary neoplastic syndrome
  • p.Leu88Val Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Leu91Phe Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Lys186dup Multiple submitters hereditary neoplastic syndrome
  • p.Lys186Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys186Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys320Arg Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Lys328Glu Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Lys333Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys342Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys367Gln Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Lys48Arg Multiple submitters familial ovarian cancer ⚠
  • p.Met10Arg Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Met10Ile Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Met10Leu Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Met10Thr Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Met10Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Met118Val Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Met136Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Met165Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Met1Ile Multiple submitters Fanconi anemia complementation group O
  • p.Met1Leu Multiple submitters hereditary neoplastic syndrome
  • p.Met1Val Multiple submitters hereditary neoplastic syndrome
  • p.Met286Ile Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Phe103del Multiple submitters hereditary neoplastic syndrome
  • p.Phe148Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Phe164Val Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Phe346Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Phe6Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro116Leu Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Pro116Ser Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Pro127Leu Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Pro127Ser Multiple submitters hereditary neoplastic syndrome
  • p.Pro127Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro145Leu Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Pro145Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro18Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro21Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro21Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro299Arg Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Pro299Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro330Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro330Leu Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Pro43Ala Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Pro43Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro43Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro43Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser163Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser163Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser20Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser20Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser256Cys Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Ser29Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser304Gly Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Ser304Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser331Thr Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Ser44Phe Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Ser47Gly Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Thr102Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Thr121Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Thr121Ile Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Thr160Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Thr160Lys Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Thr174Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Thr287Pro Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Thr310Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Thr310Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Thr336Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Thr349fs Multiple submitters hereditary breast ovarian cancer syndrome
  • p.Thr34Ile Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Thr60Ala Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Thr70Ser Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Thr86Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val129Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val140Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val140Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val142Ala Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Val142Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val166Ala Multiple submitters breast-ovarian cancer, familial, susceptibility to, 3 ⚠
  • p.Val236Phe Multiple submitters Fanconi anemia complementation group O ⚠
  • p.Val239Glu Multiple submitters familial ovarian cancer ⚠
  • p.Val25Met Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val28_Ser29insTrpValLysLeuVal Multiple submitters Fanconi anemia complementation group O
  • p.Val280Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val28Met Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val298Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val337Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • c.1026+4A>T Single submitter Fanconi anemia complementation group O
  • c.1026+5G>C Single submitter Fanconi anemia complementation group O
  • c.1027-1G>T Single submitter Fanconi anemia complementation group O
  • c.1027-4del Single submitter hereditary neoplastic syndrome
  • c.1027-7C>A Single submitter Fanconi anemia complementation group O
  • c.145+1023A>G Single submitter hereditary neoplastic syndrome
  • c.145+5_145+7delinsG Single submitter hereditary neoplastic syndrome
  • c.145+698T>G Single submitter hereditary neoplastic syndrome
  • c.145+778T>G Single submitter hereditary neoplastic syndrome
  • c.146-5T>G Single submitter hereditary neoplastic syndrome
  • c.404+116T>C Single submitter hereditary breast ovarian cancer syndrome
  • c.405-3C>G Single submitter Fanconi anemia complementation group O
  • c.405-4A>G Single submitter hereditary neoplastic syndrome
  • c.405-6dup Single submitter hereditary neoplastic syndrome
  • c.571+3A>G Single submitter hereditary neoplastic syndrome
  • c.571+5G>T Single submitter hereditary neoplastic syndrome
  • c.571+7T>A Single submitter Fanconi anemia complementation group O
  • c.572-1481C>T Single submitter hereditary neoplastic syndrome
  • c.572-3C>T Single submitter Fanconi anemia complementation group O
  • c.572-5T>C Single submitter Fanconi anemia complementation group O
  • c.572-5T>G Single submitter hereditary neoplastic syndrome
  • c.572-6T>C Single submitter Fanconi anemia complementation group O
  • c.572-7G>T Single submitter
  • c.837+3A>T Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.837+4A>G Single submitter Fanconi anemia complementation group O
  • c.837+4del Single submitter Fanconi anemia complementation group O
  • c.837+5G>C Single submitter Fanconi anemia complementation group O
  • c.837+775A>G Single submitter hereditary neoplastic syndrome
  • c.838_965dup Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.904+10_904+13del Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.904+3G>A Single submitter Fanconi anemia complementation group O
  • c.904+3G>T Single submitter Fanconi anemia complementation group O
  • c.904+5G>A Single submitter Fanconi anemia complementation group O
  • c.904+6T>C Single submitter Fanconi anemia complementation group O
  • c.905-3C>T Single submitter Fanconi anemia complementation group O
  • c.905-6T>A Single submitter Fanconi anemia complementation group O
  • c.905-7C>G Single submitter breast-ovarian cancer, familial, susceptibility to, 3
  • c.905-82_905-81insALU Single submitter hereditary neoplastic syndrome
  • c.965+19_965+20insTCGGAAAATAACTCCGAATAACAATATTCGGAA Single submitter Fanconi anemia complementation group O
  • c.965+3C>G Single submitter Fanconi anemia complementation group O
  • c.965+867A>G Single submitter Fanconi anemia complementation group O
  • c.966-1080C>T Single submitter hereditary neoplastic syndrome
  • c.966-18T>G Single submitter Fanconi anemia complementation group O
  • c.966-2427_966-2426delinsCT Single submitter
  • c.966-6A>G Single submitter Fanconi anemia complementation group O
  • c.-10T>G Single submitter hereditary neoplastic syndrome
  • c.-11G>A Single submitter hereditary neoplastic syndrome