Sugi Variant

Sugi Variant/RAD51D

RAD51D — 1181 ClinVar variants

All ClinVar germline RAD51D variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 458 flagged for review →

70 Pathogenic · 31 Pathogenic/Likely pathogenic · 51 Likely pathogenic · 127 Conflicting · 33 Benign · 99 Benign/Likely benign · 254 Likely benign · 516 Uncertain significance

Full RAD51D gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 458

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 agree, ClinVar conflicts 47

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predicted LoF vs a conflicting call 14

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 306

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 306

Predictors split 91

The independent predictors disagree with each other — read with care.

All RAD51D variants

Pathogenic 70

  • p.Ala163fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Arg145fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg253Ter Multiple submitters RAD51D-related disorder
  • p.Asn249fs Multiple submitters hereditary neoplastic syndrome
  • p.Asn67fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Cys119fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln115Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Gln151Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln160Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln229Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Gln60Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu162fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Glu73Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Gly217_Gln219delinsTer Multiple submitters hereditary neoplastic syndrome
  • p.Ile175fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu150fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Leu8fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu93fs Multiple submitters hereditary neoplastic syndrome
  • p.Thr114fs Multiple submitters RAD51D-related disorder
  • p.Thr248Ter Multiple submitters hereditary neoplastic syndrome
  • p.Thr77delinsIleSerThrArgAsnTer Multiple submitters hereditary neoplastic syndrome
  • p.Trp268Ter Multiple submitters hereditary neoplastic syndrome
  • p.Tyr47Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Val169fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Val28fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.1_263del Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.1_987del Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.133_263+806del Single submitter
  • c.146_263+1del Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.576+2T>C Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.577-1G>A Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.738+402_*1465del Single submitter breast cancer
  • c.740_987del Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.82_577-1del Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.963_1047del Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Ala34fs Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Ala49_Leu50insTer Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Arg232_Arg239delinsTer Single submitter hereditary neoplastic syndrome
  • p.Arg232Ter Single submitter hereditary neoplastic syndrome
  • p.Arg5fs Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Asp156fs Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Cys9fs Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Cys9Ter Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Gln177Ter Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Gln18fs Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Glu101Ter Single submitter hereditary neoplastic syndrome
  • p.Glu104fs Single submitter hereditary neoplastic syndrome
  • p.Glu222fs Single submitter hereditary neoplastic syndrome
  • p.Gly265Ter Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Gly7Ter Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Ile86fs Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Leu128fs Single submitter hereditary neoplastic syndrome
  • p.Leu20fs Single submitter hereditary neoplastic syndrome
  • p.Leu57fs Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Leu82fs Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Lys26fs Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Lys76fs Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Pro65_Val66insTer Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Ser299fs Single submitter hereditary breast ovarian cancer syndrome
  • p.Ser46fs Single submitter hereditary neoplastic syndrome
  • p.Thr252fs Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Thr84fs Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Tyr134Ter Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Val170fs Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Val202fs Single submitter hereditary neoplastic syndrome
  • c.263+1617C>T No assertion criteria gastric cancer
  • p.Gln192fs No assertion criteria gastric cancer
  • p.Gly289fs No assertion criteria gastric cancer
  • p.Gly325fs No assertion criteria gastric cancer
  • p.Trp314Ter No assertion criteria gastric cancer

Pathogenic/Likely pathogenic 31

  • c.131_144+24del Multiple submitters hereditary neoplastic syndrome
  • c.144+1G>T Multiple submitters hereditary neoplastic syndrome
  • c.264-2A>G Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.346-1G>C Multiple submitters hereditary breast ovarian cancer syndrome
  • c.576+1G>A Multiple submitters RAD51D-related disorder
  • c.738+1G>A Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.904-2A>T Multiple submitters hereditary breast ovarian cancer syndrome
  • p.Ala122fs Multiple submitters Inherited ovarian cancer (without breast cancer)
  • p.Ala296fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Arg186Ter Multiple submitters Inherited breast cancer and ovarian cancer
  • p.Arg300fs Multiple submitters RAD51D-related disorder
  • p.Arg300Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Gln130Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln148Ter Multiple submitters RAD51D-related disorder
  • p.Gln168Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Gln183Ter Multiple submitters familial ovarian cancer
  • p.Gln18Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu159fs Multiple submitters hereditary neoplastic syndrome
  • p.Glu15Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu233fs Multiple submitters hereditary neoplastic syndrome
  • p.Glu37fs Multiple submitters hereditary neoplastic syndrome
  • p.Gly195fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Gly217Ter Multiple submitters RAD51D-related disorder
  • p.Gly258fs Multiple submitters hereditary neoplastic syndrome
  • p.His250fs Multiple submitters Inherited breast cancer and ovarian cancer
  • p.Leu224Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Leu230fs Multiple submitters hereditary neoplastic syndrome
  • p.Lys91fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser207Leu Multiple submitters RAD51D-related cancer predisposition
  • p.Tyr72_Glu73delinsTer Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Val32fs Multiple submitters RAD51D-related disorder

Likely pathogenic 51

  • c.144+1dup Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.145-2A>G Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.264-1G>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.480+1G>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.481-1G>A Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.668-2A>C Multiple submitters hereditary neoplastic syndrome
  • c.738+1G>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.739-1G>A Multiple submitters hereditary breast ovarian cancer syndrome
  • c.82+1G>A Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Arg255fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Gln301Ter Multiple submitters hereditary breast ovarian cancer syndrome
  • p.Ile251fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu215fs Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Thr274fs Multiple submitters hereditary neoplastic syndrome
  • p.Trp268fs Multiple submitters hereditary neoplastic syndrome
  • c.144+1_144+11delinsCC Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.144+1G>A Single submitter familial ovarian cancer
  • c.145-1G>A Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.263+1G>C Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.263+2T>C Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.346-2delinsCG Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.377_480+205del Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.480+2T>C Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.576+1_576+2insC Single submitter hereditary neoplastic syndrome
  • c.577-2A>T Single submitter hereditary neoplastic syndrome
  • c.637_1047del Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.668-2A>G Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.738+2T>C Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.739-1G>C Single submitter hereditary neoplastic syndrome
  • c.739-2A>T Single submitter hereditary neoplastic syndrome
  • c.82+4A>T Single submitter hereditary neoplastic syndrome
  • c.896_*505delinsT Single submitter
  • c.904-2A>C Single submitter hereditary neoplastic syndrome
  • p.Ala263fs Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Arg221fs Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Arg253fs Single submitter hereditary neoplastic syndrome
  • p.Asp180fs Single submitter familial ovarian cancer
  • p.Cys294fs Single submitter hereditary neoplastic syndrome
  • p.Gly288fs Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Gly2fs Single submitter hereditary neoplastic syndrome
  • p.Ile281fs Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Met1fs Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Met243fs Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Ser196fs Single submitter
  • p.Ser207Ter Single submitter Deleterious RAD51D Gene Mutation
  • p.Ser273fs Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Ser299_Ter329delinsXaa Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Thr194fs Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Thr199_Val200insTer Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Val189fs Single submitter Deleterious RAD51D Gene Mutation
  • c.345+1G>A No assertion criteria ovarian neoplasm

Conflicting classifications of pathogenicity 127

  • c.145-12G>A Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.145-13G>T Single submitter Breast and/or ovarian cancer
  • c.145-4G>A Single submitter RAD51D-related cancer predisposition
  • c.263+1521G>A Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.263+1612del Single submitter hereditary neoplastic syndrome
  • c.263+1641C>T Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.263+1G>T Single submitter hereditary neoplastic syndrome ⚠
  • c.263+3T>G Single submitter hereditary neoplastic syndrome
  • c.263+5G>A Single submitter hereditary neoplastic syndrome
  • c.264-1G>A Single submitter breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • c.264-5A>G Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.345+2T>C Single submitter hereditary neoplastic syndrome ⚠
  • c.345+5A>T Single submitter hereditary neoplastic syndrome
  • c.346-10C>T Single submitter hereditary neoplastic syndrome
  • c.346-12C>T Single submitter hereditary neoplastic syndrome
  • c.346-6C>T Single submitter hereditary neoplastic syndrome
  • c.480+1G>A Single submitter hereditary neoplastic syndrome ⚠
  • c.481-2A>G Single submitter hereditary neoplastic syndrome ⚠
  • c.481-5T>C Single submitter hereditary neoplastic syndrome
  • c.481-5T>G Single submitter hereditary neoplastic syndrome
  • c.481-8C>T Single submitter hereditary neoplastic syndrome
  • c.576+1G>T Single submitter breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • c.576+3G>A Single submitter hereditary neoplastic syndrome
  • c.577-6C>A Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.667+2T>C Single submitter breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • c.667+3G>A Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.667+9T>C Single submitter Breast and/or ovarian cancer
  • c.668-13CCT[4] Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.668-3C>G Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.668-8T>C Single submitter hereditary neoplastic syndrome
  • c.738+10C>A Single submitter hereditary neoplastic syndrome
  • c.738+14C>T Single submitter hereditary neoplastic syndrome
  • c.738+4A>G Single submitter hereditary neoplastic syndrome
  • c.739-5T>C Single submitter hereditary neoplastic syndrome
  • c.82+3G>A Single submitter hereditary neoplastic syndrome
  • c.82+5_82+13delinsT Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.83-1G>A Single submitter breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • c.83-2A>G Single submitter hereditary neoplastic syndrome ⚠
  • c.903+1G>A Single submitter RAD51D-related cancer predisposition ⚠
  • c.903+6C>T Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.904-11T>A Single submitter hereditary neoplastic syndrome
  • c.904-13C>A Single submitter hereditary neoplastic syndrome
  • c.904-14_904-11del Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.904-14A>C Single submitter hereditary neoplastic syndrome
  • c.904-3C>T Single submitter hereditary neoplastic syndrome
  • c.*4G>A Single submitter hereditary neoplastic syndrome
  • c.*7C>T Single submitter hereditary neoplastic syndrome
  • p.Ala190Thr Single submitter Hereditary cancer ⚠
  • p.Ala210Val Single submitter familial ovarian cancer ⚠
  • p.Ala231Ser Single submitter breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Ala286Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala293= Single submitter hereditary neoplastic syndrome
  • p.Ala293Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala296Ser Single submitter breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Ala49Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala95= Single submitter hereditary neoplastic syndrome
  • p.Arg165Trp Single submitter familial ovarian cancer ⚠
  • p.Arg232Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg239Trp Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg259Lys Single submitter breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Arg266Cys Single submitter cancer or benign tumor ⚠
  • p.Arg290Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg290Trp Single submitter breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Arg55Trp Single submitter hereditary neoplastic syndrome
  • p.Asn131= Single submitter hereditary neoplastic syndrome
  • p.Asn138His Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn138Ser Single submitter Breast and/or ovarian cancer ⚠
  • p.Asp256Glu Single submitter breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Asp279Asn Single submitter breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Asp35= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Asp70Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Cys119Arg Single submitter familial ovarian cancer ⚠
  • p.Cys9Ser Single submitter Hereditary cancer ⚠
  • p.Gln115His Single submitter breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Gln177Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln191= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Gln324His Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly108= Single submitter hereditary neoplastic syndrome
  • p.Gly108Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly112= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Gly223= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Gly258Arg Single submitter familial ovarian cancer ⚠
  • p.Gly265Arg Single submitter familial ovarian cancer ⚠
  • p.Gly2Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly44Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.His171Tyr Single submitter hereditary neoplastic syndrome ⚠
  • p.His23Arg Single submitter breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Ile17Val Single submitter breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Ile281Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile311Asn Single submitter Hereditary cancer
  • p.Ile311Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu149= Single submitter hereditary neoplastic syndrome
  • p.Leu234= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Leu36= Single submitter hereditary neoplastic syndrome
  • p.Met16Thr Single submitter breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Met1Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Met1Lys Single submitter breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Met1Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Met1Val Single submitter hereditary neoplastic syndrome
  • p.Met292Thr Single submitter hereditary breast ovarian cancer syndrome ⚠
  • p.Met308Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Phe305Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Phe61= Single submitter hereditary neoplastic syndrome
  • p.Phe64= Single submitter hereditary neoplastic syndrome
  • p.Ser144Phe Single submitter Hereditary cancer ⚠
  • p.Ser287Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser320Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser46Cys Single submitter familial ovarian cancer ⚠
  • p.Thr27Lys Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Thr313Ile Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr313Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr328Ser Single submitter breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Tyr47= Single submitter hereditary neoplastic syndrome
  • p.Tyr72fs Single submitter Deleterious RAD51D Gene Mutation ⚠
  • p.Val124= Single submitter hereditary neoplastic syndrome
  • p.Val132Ile Single submitter hereditary neoplastic syndrome ⚠
  • p.Val170Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Val200Met Single submitter breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Val203Met Single submitter hereditary neoplastic syndrome ⚠
  • p.Val204Ile Single submitter breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Val208= Single submitter hereditary neoplastic syndrome
  • p.Val246= Single submitter hereditary neoplastic syndrome
  • p.Val28Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Val29Met Single submitter hereditary neoplastic syndrome ⚠
  • p.Val309Ile Single submitter breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Val66Met Single submitter Breast and/or ovarian cancer ⚠
  • p.Val6Ile Single submitter hereditary neoplastic syndrome ⚠

Benign 33

  • c.263+1750G>A Multiple submitters
  • c.480+187T>C Multiple submitters
  • c.481-205A>G Multiple submitters
  • c.481-80G>T Multiple submitters
  • c.738+131G>T Multiple submitters
  • c.739-103T>C Multiple submitters
  • c.-38G>T Multiple submitters hereditary neoplastic syndrome
  • c.*130A>C Multiple submitters
  • c.263+1920C>T Single submitter
  • c.263+94dup Single submitter
  • c.346-3del Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.480+75T>G Single submitter
  • c.481-144T>C Single submitter
  • c.-238A>T Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.*3T>C Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Ala238= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Ala284= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Ala286= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Arg21= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Cys117= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Gln306= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Gly195= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Gly283= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Gly288= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Leu216= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Leu277= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Ser46= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Ter329= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Thr252= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Thr79= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Val102= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Val202= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Val211= Single submitter breast-ovarian cancer, familial, susceptibility to, 4

Benign/Likely benign 99

  • c.145-14G>C Multiple submitters hereditary neoplastic syndrome
  • c.145-39G>T Multiple submitters
  • c.145-40C>T Multiple submitters
  • c.263+1588A>G Multiple submitters hereditary neoplastic syndrome
  • c.263+1605G>A Multiple submitters hereditary neoplastic syndrome
  • c.263+7G>A Multiple submitters hereditary neoplastic syndrome
  • c.481-23_481-20del Multiple submitters hereditary neoplastic syndrome
  • c.481-7G>A Multiple submitters Breast and/or ovarian cancer
  • c.668-13CCT[2] Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.668-20dup Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.668-25CT[2] Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.83-20T>C Multiple submitters hereditary neoplastic syndrome
  • c.904-12TTC[2] Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Ala121= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Ala152= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Ala161= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Ala163= Multiple submitters hereditary neoplastic syndrome
  • p.Ala172= Multiple submitters hereditary neoplastic syndrome
  • p.Ala210= Multiple submitters hereditary neoplastic syndrome
  • p.Ala225= Multiple submitters hereditary neoplastic syndrome
  • p.Ala52= Multiple submitters hereditary neoplastic syndrome
  • p.Ala59= Multiple submitters hereditary neoplastic syndrome
  • p.Ala80= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Arg165Gln Multiple submitters hereditary neoplastic syndrome
  • p.Arg232Gln Multiple submitters hereditary neoplastic syndrome
  • p.Arg255= Multiple submitters hereditary neoplastic syndrome
  • p.Arg290= Multiple submitters hereditary neoplastic syndrome
  • p.Arg291= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Asn123= Multiple submitters hereditary neoplastic syndrome
  • p.Asn138= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Asp174= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Asp240= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Asp279= Multiple submitters hereditary neoplastic syndrome
  • p.Cys119= Multiple submitters hereditary neoplastic syndrome
  • p.Cys9= Multiple submitters hereditary neoplastic syndrome
  • p.Gln151= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Gln18= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Gln319= Multiple submitters hereditary neoplastic syndrome
  • p.Glu157= Multiple submitters hereditary neoplastic syndrome
  • p.Glu222= Multiple submitters hereditary neoplastic syndrome
  • p.Glu307= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Glu38= Multiple submitters hereditary neoplastic syndrome
  • p.Glu73= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Gly100= Multiple submitters hereditary neoplastic syndrome
  • p.Gly140= Multiple submitters hereditary neoplastic syndrome
  • p.Gly2= Multiple submitters hereditary neoplastic syndrome
  • p.Gly285= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Gly289= Multiple submitters hereditary neoplastic syndrome
  • p.Gly304= Multiple submitters hereditary neoplastic syndrome
  • p.Gly7= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.His126= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.His250= Multiple submitters hereditary neoplastic syndrome
  • p.Ile276= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Ile81= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Leu118= Multiple submitters hereditary neoplastic syndrome
  • p.Leu128= Multiple submitters hereditary neoplastic syndrome
  • p.Leu133= Multiple submitters hereditary neoplastic syndrome
  • p.Leu146= Multiple submitters hereditary neoplastic syndrome
  • p.Leu147= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Leu185= Multiple submitters hereditary neoplastic syndrome
  • p.Leu215= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Leu237= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Leu264= Multiple submitters hereditary neoplastic syndrome
  • p.Leu278= Multiple submitters hereditary neoplastic syndrome
  • p.Leu31= Multiple submitters hereditary neoplastic syndrome
  • p.Leu53= Multiple submitters hereditary neoplastic syndrome
  • p.Leu57= Multiple submitters hereditary neoplastic syndrome
  • p.Lys26= Multiple submitters hereditary neoplastic syndrome
  • p.Lys91= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Phe176= Multiple submitters hereditary neoplastic syndrome
  • p.Pro214= Multiple submitters hereditary neoplastic syndrome
  • p.Pro262= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Pro272= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Ser111= Multiple submitters hereditary neoplastic syndrome
  • p.Ser207= Multiple submitters hereditary neoplastic syndrome
  • p.Ser257= Multiple submitters hereditary neoplastic syndrome
  • p.Ser267= Multiple submitters hereditary neoplastic syndrome
  • p.Ser269= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Ser298= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Ser62= Multiple submitters hereditary neoplastic syndrome
  • p.Ser78= Multiple submitters hereditary neoplastic syndrome
  • p.Thr154= Multiple submitters hereditary neoplastic syndrome
  • p.Thr199= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Thr236= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Thr280= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Thr313= Multiple submitters hereditary neoplastic syndrome
  • p.Thr316= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Thr322= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Thr328Ile Multiple submitters hereditary neoplastic syndrome
  • p.Thr77= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr72= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr98= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Val116= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Val132= Multiple submitters hereditary neoplastic syndrome
  • p.Val169= Multiple submitters hereditary neoplastic syndrome
  • p.Val170= Multiple submitters hereditary neoplastic syndrome
  • p.Val189= Multiple submitters hereditary neoplastic syndrome
  • p.Val39= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Val66= Multiple submitters hereditary neoplastic syndrome

Likely benign 254

  • c.144+7T>A Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.144+9C>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.145-17C>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.145-20A>G Multiple submitters hereditary neoplastic syndrome
  • c.145-7T>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.145-9C>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.263+1455del Multiple submitters hereditary neoplastic syndrome
  • c.263+1474C>T Multiple submitters hereditary neoplastic syndrome
  • c.263+1478C>T Multiple submitters hereditary neoplastic syndrome
  • c.263+1507_263+1509del Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.263+1509C>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.263+1571T>C Multiple submitters
  • c.263+1627C>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.263+9G>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.264-13C>G Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.264-3C>T Multiple submitters hereditary neoplastic syndrome
  • c.264-8G>A Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.345+14C>T Multiple submitters hereditary neoplastic syndrome
  • c.345+17C>T Multiple submitters hereditary neoplastic syndrome
  • c.345+18A>T Multiple submitters hereditary neoplastic syndrome
  • c.345+7G>T Multiple submitters hereditary neoplastic syndrome
  • c.346-19C>T Multiple submitters hereditary neoplastic syndrome
  • c.346-5C>G Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.346-7C>T Multiple submitters hereditary neoplastic syndrome
  • c.480+7G>T Multiple submitters hereditary neoplastic syndrome
  • c.481-11C>T Multiple submitters RAD51D-related cancer predisposition
  • c.481-15T>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.481-7G>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.481-9C>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.577-14C>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.577-17C>G Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.577-211T>C Multiple submitters
  • c.577-7C>T Multiple submitters familial ovarian cancer
  • c.667+14C>T Multiple submitters hereditary breast ovarian cancer syndrome
  • c.667+20C>T Multiple submitters hereditary neoplastic syndrome
  • c.667+8A>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.668-17T>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.668-19G>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.668-4G>A Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.668-4G>T Multiple submitters hereditary neoplastic syndrome
  • c.668-9C>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.738+13G>T Multiple submitters hereditary neoplastic syndrome
  • c.739-14T>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.82+10T>A Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.82+7G>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.82+7G>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.82+8_82+15del Multiple submitters hereditary neoplastic syndrome
  • c.82+8G>A Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.83-15G>A Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.83-15G>C Multiple submitters hereditary neoplastic syndrome
  • c.83-16C>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.83-17del Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.83-19A>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.83-19A>G Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.83-8G>A Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.83-8G>C Multiple submitters hereditary neoplastic syndrome
  • c.903+10C>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.903+61A>G Multiple submitters
  • c.903+9G>A Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.904-12TTC[4] Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.904-14A>T Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.904-19T>G Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Arg253= Multiple submitters hereditary neoplastic syndrome
  • p.Arg300= Multiple submitters hereditary neoplastic syndrome
  • p.Arg55= Multiple submitters hereditary neoplastic syndrome
  • p.Gly218= Multiple submitters hereditary neoplastic syndrome
  • p.Ile105= Multiple submitters hereditary neoplastic syndrome
  • p.Ile311= Multiple submitters hereditary neoplastic syndrome
  • p.Leu141= Multiple submitters hereditary neoplastic syndrome
  • p.Leu179= Multiple submitters hereditary neoplastic syndrome
  • p.Leu182= Multiple submitters hereditary neoplastic syndrome
  • p.Leu241= Multiple submitters hereditary breast ovarian cancer syndrome
  • p.Leu260= Multiple submitters hereditary neoplastic syndrome
  • p.Leu58= Multiple submitters hereditary neoplastic syndrome
  • p.Leu92= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Pro10= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Ser273= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Thr142= Multiple submitters hereditary neoplastic syndrome
  • p.Val203= Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.144+13T>G Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.144+15T>C Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.144+15T>G Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.144+18A>T Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.144+33G>C Single submitter
  • c.144+7T>C Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.144+8_144+10del Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.145-10C>T Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.145-11C>T Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.145-13G>C Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.145-16T>C Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.145-35A>G Single submitter RAD51D-related cancer predisposition
  • c.145-41A>G Single submitter
  • c.145-47G>C Single submitter
  • c.145-9C>A Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.263+11G>A Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.263+1323C>A Single submitter
  • c.263+1493G>T Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.263+14C>T Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.263+1520C>T Single submitter
  • c.263+1565A>G Single submitter
  • c.263+1578G>A Single submitter hereditary neoplastic syndrome
  • c.263+15T>G Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.263+1631C>T Single submitter
  • c.263+1654C>T Single submitter
  • c.263+1816C>T Single submitter
  • c.263+1855G>A Single submitter
  • c.263+1857_263+1858insT Single submitter
  • c.263+18G>C Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.263+43T>C Single submitter
  • c.263+50T>G Single submitter
  • c.264-10C>T Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.264-15C>T Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.264-19T>C Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.264-50C>T Single submitter
  • c.264-7C>G Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.345+11G>A Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.345+13C>G Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.345+19_345+20del Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.345+23G>C Single submitter
  • c.345+9G>C Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.346-13C>T Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.346-14G>A Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.346-15T>C Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.346-15T>G Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.480+14G>T Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.480+19G>A Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.480+6G>T Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.480+7G>A Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.481-10A>G Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.481-14T>C Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.481-17_481-15del Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.481-17C>G Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.481-18T>G Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.481-26C>T Single submitter
  • c.481-29G>A Single submitter
  • c.481-41C>T Single submitter
  • c.576+11T>C Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.576+12G>C Single submitter
  • c.576+35C>T Single submitter
  • c.576+9G>C Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.577-10A>C Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.577-11C>A Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.577-11C>T Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.577-15C>A Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.577-15C>G Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.577-15C>T Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.577-18T>A Single submitter hereditary neoplastic syndrome
  • c.577-20C>T Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.667+15A>G Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.667+16G>A Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.667+17A>T Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.667+43C>T Single submitter
  • c.667+48C>T Single submitter
  • c.667+49C>T Single submitter
  • c.667+9T>A Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.668-12C>G Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.668-12C>T Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.668-17T>A Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.668-30C>G Single submitter
  • c.668-36C>T Single submitter
  • c.668-4G>C Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.738+10C>G Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.738+13G>A Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.738+13G>C Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.738+15T>C Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.738+29T>G Single submitter
  • c.738+9G>C Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.738+9G>T Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.739-11T>G Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.739-16T>C Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.739-17G>A Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.739-18A>C Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.739-21del Single submitter hereditary neoplastic syndrome
  • c.739-235G>A Single submitter
  • c.739-35A>G Single submitter
  • c.739-4G>A Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.739-7G>C Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.82+14C>A Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.82+15G>C Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.82+5_82+12del Single submitter
  • c.82+5C>G Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.82+5C>T Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.82+8G>C Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.83-13G>A Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.83-18T>G Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.83-19A>T Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.83-20dup Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.83-21_83-15del Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.83-26A>G Single submitter hereditary neoplastic syndrome
  • c.83-37C>A Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.83-45G>T Single submitter
  • c.83-9del Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.903+12C>T Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.903+16G>T Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.903+5G>A Single submitter hereditary neoplastic syndrome
  • c.904-16T>G Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.904-7C>T Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.-10T>G Single submitter
  • c.-126C>T Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.-22G>A Single submitter
  • c.-27C>A Single submitter
  • c.-27C>T Single submitter
  • c.-28C>T Single submitter
  • c.-34A>G Single submitter
  • c.-48C>A Single submitter
  • c.-48C>T Single submitter
  • c.-7G>C Single submitter hereditary neoplastic syndrome
  • c.*49C>A Single submitter
  • c.*9GTT[1] Single submitter
  • p.Ala143= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Ala231= Single submitter hereditary neoplastic syndrome
  • p.Ala321Val Single submitter hereditary neoplastic syndrome
  • p.Ala40= Single submitter hereditary neoplastic syndrome
  • p.Arg165= Single submitter hereditary neoplastic syndrome
  • p.Arg186= Single submitter hereditary neoplastic syndrome
  • p.Arg239= Single submitter hereditary neoplastic syndrome
  • p.Arg266= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Arg54= Single submitter hereditary neoplastic syndrome
  • p.Cys43= Single submitter hereditary neoplastic syndrome
  • p.Gln155= Single submitter hereditary neoplastic syndrome
  • p.Gln183= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Gln319Glu Single submitter hereditary neoplastic syndrome
  • p.Glu14= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Glu159= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Glu282Gln Single submitter hereditary neoplastic syndrome
  • p.Gly107= Single submitter hereditary neoplastic syndrome
  • p.Gly258= Single submitter hereditary neoplastic syndrome
  • p.Gly265= Single submitter hereditary neoplastic syndrome
  • p.Gly312= Single submitter hereditary neoplastic syndrome
  • p.His171= Single submitter hereditary neoplastic syndrome
  • p.Leu12= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Leu19= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Leu323= Single submitter hereditary neoplastic syndrome
  • p.Leu89= Single submitter hereditary neoplastic syndrome
  • p.Lys235= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Lys297= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Met308Ile Single submitter hereditary neoplastic syndrome
  • p.Ser144= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Ser83= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Thr114= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Thr13= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Thr194= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Thr209= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Thr274= Single submitter hereditary neoplastic syndrome
  • p.Thr313Asn Single submitter hereditary neoplastic syndrome
  • p.Thr328= Single submitter hereditary neoplastic syndrome
  • p.Thr99= Single submitter hereditary neoplastic syndrome
  • p.Val200= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Val247= Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • p.Val309= Single submitter hereditary breast ovarian cancer syndrome
  • p.Val6Ala Single submitter hereditary neoplastic syndrome
  • c.263+1475G>A No assertion criteria RAD51D-related disorder
  • c.263+1628G>A No assertion criteria RAD51D-related disorder
  • c.-99T>C No assertion criteria breast-ovarian cancer, familial, susceptibility to, 4

Uncertain significance 516

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

  • c.144+5G>C Multiple submitters hereditary neoplastic syndrome
  • c.263+1558A>G Multiple submitters RAD51D-related disorder
  • c.263+5G>C Multiple submitters hereditary neoplastic syndrome
  • c.345+5A>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.473_480+1del Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.480+3A>G Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.480+5G>A Multiple submitters hereditary neoplastic syndrome
  • c.667+5G>A Multiple submitters hereditary neoplastic syndrome
  • c.667+5G>C Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • c.668-3C>T Multiple submitters hereditary neoplastic syndrome
  • c.83-5T>G Multiple submitters hereditary neoplastic syndrome
  • c.-1C>T Multiple submitters hereditary neoplastic syndrome
  • c.-2A>G Multiple submitters hereditary neoplastic syndrome
  • c.-7G>A Multiple submitters RAD51D-related cancer predisposition
  • p.253RD[1] Multiple submitters hereditary neoplastic syndrome
  • p.Ala121Thr Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Ala122Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala122Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala125Val Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Ala163Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala163Thr Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Ala172Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala210Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala225Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala231Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala238Thr Multiple submitters hereditary neoplastic syndrome
  • p.Ala263Thr Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Ala263Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala293Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala321fs Multiple submitters hereditary neoplastic syndrome
  • p.Ala34Thr Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Ala34Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala52Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala63Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala69Thr Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Ala80Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg145Cys Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Arg166Gly Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Arg232Pro Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Arg239Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg239Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg239Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg253Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg253Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg255Lys Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Arg259Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg259Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg275Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg275Trp Multiple submitters familial ovarian cancer ⚠
  • p.Arg291His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg300Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg54Met Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg55Gln Multiple submitters familial ovarian cancer ⚠
  • p.Arg5Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn123Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn138Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn138Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn249Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn249Ser Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Asp136Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp136Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp156Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp174Val Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Asp180Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp240His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp254Asn Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Asp254Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp256Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp256His Multiple submitters Breast and/or ovarian cancer ⚠
  • p.Asp279Gly Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Asp30Gly Multiple submitters hereditary neoplastic syndrome
  • p.Asp30His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp70Gly Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Asp90Asn Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Asp90Glu Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Asp94Gly Multiple submitters hereditary neoplastic syndrome
  • p.Cys117Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Cys9Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln115Arg Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Gln160His Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Gln177Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln183Pro Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Gln192Arg Multiple submitters hereditary breast ovarian cancer syndrome ⚠
  • p.Gln220Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln229His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln301Arg Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Gln306Arg Multiple submitters childhood neoplasm ⚠
  • p.Gln324Leu Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Gln324Ter Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Gln327Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln60Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln60Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu101Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu15del Multiple submitters hereditary neoplastic syndrome
  • p.Glu162Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu184Val Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Glu282Lys Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Glu307Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu307Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu318Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu37Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu37Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu38Lys Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Glu73Lys Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Glu74Gly Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Gly100Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly110Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly112Asp Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Gly112Ser Multiple submitters familial ovarian cancer ⚠
  • p.Gly11Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly139Arg Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Gly140Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly140Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly187Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly195Asp Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Gly217Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly218Asp Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Gly223Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly223Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly242= Multiple submitters hereditary neoplastic syndrome
  • p.Gly242Val Multiple submitters hereditary neoplastic syndrome
  • p.Gly258Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly265Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly285Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly2Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly2Cys Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Gly2Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly315Glu Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Gly44Cys Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Gly85Ser Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Gly87Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly96Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly96Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His250Asp Multiple submitters hereditary neoplastic syndrome
  • p.Ile175Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile175Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile17Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile251Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile251Lys Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Ile311Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile311Met Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile86Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile86Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile86Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu118Phe Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Leu12Phe Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Leu12Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu133Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu141Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu141Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu141Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu146Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu146Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu147Arg Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Leu147Phe Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Leu150Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu164Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu19Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu19Pro Multiple submitters hereditary breast ovarian cancer syndrome ⚠
  • p.Leu226Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu277Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu278Pro Multiple submitters RAD51D-related disorder ⚠
  • p.Leu31Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu323Ter Multiple submitters hereditary neoplastic syndrome
  • p.Leu36Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu4Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu4Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu50Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu71Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu75Met Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu75Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu75Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu89Pro Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Leu8Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys235Met Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys48= Multiple submitters hereditary neoplastic syndrome
  • p.Lys48Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys76Glu Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Met16Leu Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Met16Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Met178Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Met227Ile Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Met228Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Met243Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Met308_Asp310del Multiple submitters hereditary neoplastic syndrome
  • p.Met308Leu Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Phe176Ser Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Phe61Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro109Leu Multiple submitters hereditary neoplastic syndrome
  • p.Pro10Leu Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Pro10Ser Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Pro214Arg Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Pro214Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro214Leu Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Pro262Ser Multiple submitters hereditary neoplastic syndrome
  • p.Pro272Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro302Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro65Ala Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Pro65Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro65Leu Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4
  • p.Pro65Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser111Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser137Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser197Ala Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Ser197Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser213Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser257Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser269Asn Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Ser269Ile Multiple submitters hereditary neoplastic syndrome
  • p.Ser273Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser299Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser46Phe Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Ser62Trp Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Ser78Phe Multiple submitters hereditary neoplastic syndrome
  • p.Ter329Leu Multiple submitters hereditary neoplastic syndrome
  • p.Thr114Ile Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Thr114Pro Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Thr13Asn Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Thr13Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Thr142Arg Multiple submitters familial ovarian cancer ⚠
  • p.Thr142Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Thr154Ile Multiple submitters breast-ovarian cancer, familial, susceptibility to, 1 ⚠
  • p.Thr188Ile Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Thr303= Multiple submitters hereditary neoplastic syndrome
  • p.Thr303Ala Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Thr303Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Thr322fs Multiple submitters hereditary neoplastic syndrome
  • p.Thr77Ile Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Thr79Ile Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Thr84Ala Multiple submitters hereditary neoplastic syndrome
  • p.Thr84Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Thr99Ile Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Thr99Pro Multiple submitters hereditary neoplastic syndrome
  • p.Trp268Arg Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Trp268Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Trp314Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Tyr134Cys Multiple submitters hereditary breast ovarian cancer syndrome ⚠
  • p.Tyr134His Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Tyr98Cys Multiple submitters familial ovarian cancer
  • p.Val102Met Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val106Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val106Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val124Met Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Val135Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val170Met Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Val193Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val202Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val211Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val212Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val245Met Multiple submitters hereditary neoplastic syndrome
  • p.Val246Met Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val247Leu Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Val28Met Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val32Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val3Met Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val51Ile Multiple submitters breast-ovarian cancer, familial, susceptibility to, 4 ⚠
  • p.Val56Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Val6Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • c.125_144+12dup Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.144+3G>A Single submitter hereditary neoplastic syndrome
  • c.145-14G>A Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.145-15G>A Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.145-7T>A Single submitter
  • c.(263_263+1459 Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.263+1503C>T Single submitter gastric cancer
  • c.263+1511_263+1520del Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.263+1531C>T Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.263+1566G>A Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.263+1585C>G Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.263+1642G>T Single submitter hereditary breast ovarian cancer syndrome
  • c.264-3_264-1delinsA Single submitter hereditary neoplastic syndrome
  • c.264-3C>G Single submitter hereditary neoplastic syndrome
  • c.345+3A>G Single submitter hereditary neoplastic syndrome
  • c.346-3C>A Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.346-3C>G Single submitter
  • c.346-8A>C Single submitter
  • c.480+8C>T Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.481-3C>T Single submitter hereditary neoplastic syndrome
  • c.576+3G>C Single submitter hereditary neoplastic syndrome
  • c.576+3G>T Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.576+4A>C Single submitter hereditary neoplastic syndrome
  • c.577-5T>C Single submitter hereditary neoplastic syndrome
  • c.577-5T>G Single submitter hereditary neoplastic syndrome
  • c.667+4_667+5dup Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.667+4A>T Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.739-12T>C Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.739-18A>G Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.739-3C>G Single submitter hereditary neoplastic syndrome
  • c.82+4_82+7dup Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.82+6C>T Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.83-3C>G Single submitter hereditary breast ovarian cancer syndrome
  • c.83-4T>A Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.(903+1_904-1 Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.903+2T>G Single submitter
  • c.-279_-275del Single submitter breast-ovarian cancer, familial, susceptibility to, 4
  • c.-2A>T Single submitter hereditary neoplastic syndrome
  • c.-4G>A Single submitter hereditary neoplastic syndrome
  • c.-4G>C Single submitter hereditary neoplastic syndrome
  • c.-4G>T Single submitter hereditary neoplastic syndrome
  • c.-5_-4dup Single submitter hereditary neoplastic syndrome