FANCC — 2206 ClinVar variants

All ClinVar germline FANCC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 904 flagged for review →

102 Pathogenic · 73 Pathogenic/Likely pathogenic · 112 Likely pathogenic · 147 Conflicting · 37 Benign · 34 Benign/Likely benign · 657 Likely benign · 1044 Uncertain significance

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

⚑ Evidence disagreements 904

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 2

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

FANCC p.Pro235Leu Likely pathogenic Single submitter
ovarian cancer
FANCC p.Val444Gly Likely pathogenic Single submitter
ovarian cancer

Predictors agree, ClinVar conflicts 87

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

FANCC p.Ala132Gly Conflicting Single submitter
Hereditary cancer
FANCC p.Ala158Val Conflicting Single submitter
Fanconi anemia
FANCC p.Ala415Glu Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Ala415Val Conflicting Single submitter
Fanconi anemia complementation group C
FANCC p.Ala455Ser Conflicting Single submitter
Fanconi anemia
FANCC p.Arg179Gln Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Arg185Gln Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Arg209His Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Arg334Gln Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Arg334Trp Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Arg361Gln Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Arg361Trp Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Arg433Cys Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Arg458Ser Conflicting Single submitter
Hereditary cancer
FANCC p.Arg532Lys Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Arg535His Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Asn164Thr Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Asp195Val Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Asp197Glu Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Asp197Val Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Asp355Glu Conflicting Single submitter
hereditary breast ovarian cancer syndrome
FANCC p.Asp355His Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Asp476Gly Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Asp56Gly Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Cys10Gly Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Cys10Tyr Conflicting Single submitter
Hereditary cancer
FANCC p.Cys387Arg Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Gln136Glu Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Gln357Glu Conflicting Single submitter
Fanconi anemia complementation group C
FANCC p.Gln382Glu Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Gln437Arg Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Gln445Glu Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Glu178Asp Conflicting Single submitter
Fanconi anemia
FANCC p.Glu178Lys Conflicting Single submitter
Fanconi anemia
FANCC p.Glu273Lys Conflicting Single submitter
Hereditary cancer
FANCC p.Glu377Asp Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Glu405Asp Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Glu417Lys Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Glu43Lys Conflicting Single submitter
Fanconi anemia complementation group A
FANCC p.Gly388Arg Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Gly431Ser Conflicting Single submitter
Fanconi anemia complementation group C
FANCC p.Gly451Asp Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Gly451Ser Conflicting Single submitter
Fanconi anemia
FANCC p.Gly472Arg Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Gly537Cys Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.His452Arg Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.His514Gln Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Ile114Val Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Ile227Val Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Ile272Met Conflicting Single submitter
Fanconi anemia
FANCC p.Ile312Val Conflicting Single submitter
Hereditary cancer
FANCC p.Ile398Met Conflicting Single submitter
Fanconi anemia
FANCC p.Ile538Val Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Ile80Val Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Ile91Val Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Leu422Met Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Leu479Pro Conflicting Single submitter
Fanconi anemia complementation group C
FANCC p.Lys545Arg Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Lys552Arg Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Met16Leu Conflicting Single submitter
Fanconi anemia
FANCC p.Met236Thr Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Met254Val Conflicting Single submitter
Fanconi anemia complementation group C
FANCC p.Met350Val Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Met406Ile Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Pro211Arg Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Pro418Ser Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Pro541Leu Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Ser264Arg Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Ser26Phe Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Ser280Leu Conflicting Single submitter
FANCC-related disorder
FANCC p.Ser345Ala Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Ser386Pro Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Ser414Leu Conflicting Single submitter
Fanconi anemia complementation group C
FANCC p.Ser5Leu Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Thr344Ala Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Thr469Met Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Thr475Pro Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Thr503Met Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Thr510Asn Conflicting Single submitter
Fanconi anemia
FANCC p.Thr59Ile Conflicting Single submitter
Fanconi anemia complementation group C
FANCC p.Trp506Arg Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Val188Ile Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Val196Phe Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Val294Ala Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Val38Leu Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Val38Met Conflicting Single submitter
Fanconi anemia complementation group C
FANCC p.Val60Ile Conflicting Single submitter
Hereditary cancer

Predictors lean, ClinVar uncertain 701

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 701

FANCC p.Ala124Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Ala124Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Ala141Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Ala176Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Ala181Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Ala284Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Ala289Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Ala301Thr Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.Ala301Val Uncertain significance Multiple submitters
Fanconi anemia complementation group C
FANCC p.Ala313Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Ala325Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Ala336Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Ala415Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Ala421Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Ala455Val Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.Ala498Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Ala505Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Ala516Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Ala51Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Ala547Val Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.Ala72Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Ala82Thr Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.Arg174Gln Uncertain significance Multiple submitters
Fanconi anemia complementation group C
FANCC p.Arg209Cys Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.Arg245Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Arg271Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Arg271Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Arg271Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Arg292Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Arg292Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Arg433His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Arg433Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Arg433Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Arg436Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Arg488Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Arg535Cys Uncertain significance Multiple submitters
FANCC-related disorder
FANCC p.Arg542Lys Uncertain significance Multiple submitters
Fanconi anemia complementation group A
FANCC p.Arg548Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Arg548Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Arg555Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Arg63Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Arg63Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Asn164Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Asn170Ser Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.Asn267Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Asp128Gly Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.Asp195Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Asp195His Uncertain significance Multiple submitters
Fanconi anemia complementation group C
FANCC p.Asp197Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Asp278Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Asp306Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Asp434Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Asp434Gly Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.Asp434His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Asp84Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Cys187Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Cys268Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Cys268Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Cys268Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Cys274Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Cys93Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Cys93Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Gln136Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Gln13Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Gln172Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Gln212Arg Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.Gln283Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Gln32Lys Uncertain significance Multiple submitters
FANCC p.Gln332Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Gln366His Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.Gln382His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Gln3His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Gln3Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Gln40His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Gln437Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Gln437Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Gln473Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Glu130Asp Uncertain significance Multiple submitters
Fanconi anemia complementation group C
FANCC p.Glu218Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Glu225Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Glu273Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Glu310Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Glu324Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Glu377Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Glu409Lys Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.Glu517Asp Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.Glu521Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Glu539Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Glu549Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Glu54Lys Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.Glu553Gly Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.Glu85Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Gly116Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Gly116Asp Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.Gly362Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Gly385Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Gly389Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Gly389Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Gly472Glu Uncertain significance Multiple submitters
Fanconi anemia complementation group C
FANCC p.Gly501Asp Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.Gly501Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Gly68Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Gly68Ser Uncertain significance Multiple submitters
Fanconi anemia complementation group C
FANCC p.His165Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.His207Leu Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.His256Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.His363Arg Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.His37Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.His37Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.His384Arg Uncertain significance Multiple submitters
Fanconi anemia complementation group C
FANCC p.His384Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.His502Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.His502Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.His514Tyr Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.Ile114Leu Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.Ile191Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Ile191Thr Uncertain significance Multiple submitters
Fanconi anemia complementation group C
FANCC p.Ile272Ser Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.Ile272Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Ile276Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Ile276Thr Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.Ile276Val Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.Ile315Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Ile371Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Ile487Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Ile523Thr Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.Ile523Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Ile89Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Ile91Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Ile91Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Ile98Thr Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.Leu110Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Leu110Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Leu122Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Leu125Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Leu133Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Leu155Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Leu157Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Leu157Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Leu166Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Leu183Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Leu190Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Leu199Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Leu204Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Leu234Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Leu247Phe Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.Leu250Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Leu257Pro Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.Leu333Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Leu337Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome

Predictors split 114

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

FANCC p.Phe525Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Ala222Asp Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.Ala226Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Ala301Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Arg245Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Arg292Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Arg439Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Asp306Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Asp56Tyr Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.Asp56Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Cys96Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Cys96Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Gly501Val Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.His370Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.His37Pro Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.Leu110Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Leu138Arg Uncertain significance Multiple submitters
Fanconi anemia complementation group C
FANCC p.Leu234Val Uncertain significance Multiple submitters
Fanconi anemia complementation group C
FANCC p.Leu422Val Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.Leu530Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Leu536Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Leu8Pro Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.Phe341Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Phe341Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Phe428Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Phe525Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Pro102Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Pro198Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Pro198Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Pro198Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Pro235Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Pro342Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Pro356His Uncertain significance Multiple submitters
Fanconi anemia
FANCC p.Thr27Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Thr319Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Trp113Ser Uncertain significance Multiple submitters
Fanconi anemia complementation group C
FANCC p.Trp533Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Tyr340Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Val154Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
FANCC p.Ala158Pro Conflicting Single submitter
Fanconi anemia complementation group C
FANCC p.Ala222Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Arg299Ser Uncertain significance Single submitter
Fanconi anemia
FANCC p.Arg439Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Arg532Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Arg535Pro Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Asn111Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Asp295Val Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Asp33His Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Asp33Val Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Asp507Val Uncertain significance Single submitter
Fanconi anemia
FANCC p.Cys286Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Cys286Tyr Uncertain significance Single submitter
Fanconi anemia
FANCC p.Cys35Arg Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Cys96Arg Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Gln69Pro Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Glu251Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Glu304Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Glu380Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Glu392Lys Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Glu417Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Gly537Val Uncertain significance Single submitter
Fanconi anemia
FANCC p.His256Pro Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.His363Pro Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Ile214Asn Uncertain significance Single submitter
Fanconi anemia
FANCC p.Ile290Met Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Ile311Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Ile80Thr Conflicting Single submitter
hereditary neoplastic syndrome
FANCC p.Leu190Arg Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Leu228Ser Uncertain significance Single submitter
Fanconi anemia
FANCC p.Leu229Pro Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Leu348Val Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Leu352Val Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Leu425Pro Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Leu546Pro Uncertain significance Single submitter
FANCC p.Leu551Phe Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Leu90Val Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Lys18Thr Uncertain significance Single submitter
Fanconi anemia
FANCC p.Met254Lys Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Met297Lys Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Phe127Leu Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Phe134Leu Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Phe220Leu Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Phe291Leu Uncertain significance Single submitter
Fanconi anemia
FANCC p.Phe298Leu Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Phe322Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Phe395Leu Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Phe397Leu Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Phe400Leu Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Phe44Leu Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Phe494Leu Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Pro102Gln Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Pro198His Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Pro198Leu Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Pro418Arg Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Pro432Arg Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Pro432His Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Pro482Leu Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Pro65Arg Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Pro65Leu Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Pro65Thr Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Ser233Pro Uncertain significance Single submitter
breast cancer
FANCC p.Ser463Pro Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Thr442Pro Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Thr515Ala Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Trp113Arg Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Trp22Cys Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Trp364Cys Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Trp394Arg Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Trp403Cys Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Tyr340His Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Tyr340Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Val196Asp Uncertain significance Single submitter
hereditary neoplastic syndrome
FANCC p.Ala181Pro Uncertain significance No assertion criteria
breast cancer
FANCC p.Trp403Arg Uncertain significance No assertion criteria
Fanconi anemia complementation group C

All FANCC variants

Pathogenic 102

c.456+4A>T Multiple submitters FANCC-related disorder
p.Arg185Ter Multiple submitters FANCC-related disorder
p.Asn152fs Multiple submitters hereditary neoplastic syndrome
p.Asp23fs Multiple submitters FANCC-related disorder
p.Gln13Ter Multiple submitters FANCC-related disorder
p.Gln216Ter Multiple submitters hereditary neoplastic syndrome
p.Gln354Ter Multiple submitters Fanconi anemia
p.Gln465Ter Multiple submitters Fanconi anemia
p.Gln473Ter Multiple submitters Fanconi anemia complementation group C
p.Gln528Ter Multiple submitters hereditary neoplastic syndrome
p.Leu333fs Multiple submitters Fanconi anemia
p.Lys151Ter Multiple submitters Fanconi anemia complementation group C
p.Pro288fs Multiple submitters hereditary neoplastic syndrome
p.Ser280Ter Multiple submitters Fanconi anemia
p.Trp22Ter Multiple submitters FANCC-related disorder
p.Trp243Ter Multiple submitters Fanconi anemia complementation group C
p.Trp424Ter Multiple submitters hereditary neoplastic syndrome
p.Trp403Ter Multiple submitters hereditary neoplastic syndrome
p.Pro288fs Single submitter Fanconi anemia
p.Leu199fs Single submitter hereditary neoplastic syndrome
c.1154+1del Single submitter Fanconi anemia complementation group C
c.1312_1329+68dup Single submitter Fanconi anemia
c.1533+1G>A Single submitter Fanconi anemia
c.165+1G>A Single submitter Fanconi anemia
c.251-2A>G Single submitter Fanconi anemia
c.251-2A>T Single submitter Fanconi anemia
c.997-?_1154+?del Single submitter Fanconi anemia
c.-78-?_250+?del Single submitter Fanconi anemia
p.Ala2fs Single submitter Fanconi anemia complementation group C
p.Ala481fs Single submitter Fanconi anemia
p.Arg173fs Single submitter hereditary neoplastic syndrome
p.Asn267fs Single submitter Fanconi anemia
p.Asp306fs Single submitter Fanconi anemia
p.Cys241Ter Single submitter Fanconi anemia
p.Cys75_Trp76insTer Single submitter Fanconi anemia
p.Cys93Ter Single submitter hereditary neoplastic syndrome
p.Cys95Ter Single submitter Fanconi anemia
p.Gln115Ter Single submitter Fanconi anemia
p.Gln17fs Single submitter Fanconi anemia
p.Gln212fs Single submitter Fanconi anemia
p.Gln283Ter Single submitter Fanconi anemia
p.Gln320Ter Single submitter Fanconi anemia
p.Gln32Ter Single submitter hereditary neoplastic syndrome
p.Gln410Ter Single submitter Fanconi anemia
p.Gln441fs Single submitter Fanconi anemia
p.Gln87Ter Single submitter Fanconi anemia complementation group C
p.Glu178Ter Single submitter Fanconi anemia
p.Glu377fs Single submitter Fanconi anemia
p.Glu380fs Single submitter Fanconi anemia
p.Glu392Ter Single submitter hereditary neoplastic syndrome
p.Glu517fs Single submitter Fanconi anemia
p.Gly168fs Single submitter Fanconi anemia
p.Gly451fs Single submitter Fanconi anemia
p.His120fs Single submitter Fanconi anemia complementation group C
p.Ile114delinsThrIleLysThrTer Single submitter Fanconi anemia
p.Ile114fs Single submitter hereditary neoplastic syndrome
p.Ile191fs Single submitter Fanconi anemia complementation group C
p.Ile205fs Single submitter Fanconi anemia
p.Ile214fs Single submitter Fanconi anemia
p.Ile522fs Single submitter Fanconi anemia
p.Ile67fs Single submitter Fanconi anemia
p.Leu118Ter Single submitter Fanconi anemia
p.Leu28fs Single submitter Fanconi anemia
p.Leu412fs Single submitter hereditary neoplastic syndrome
p.Leu551fs Single submitter Fanconi anemia
p.Leu554fs Single submitter Fanconi anemia
p.Leu71Ter Single submitter hereditary neoplastic syndrome
p.Lys331Ter Single submitter Fanconi anemia
p.Lys369fs Single submitter Fanconi anemia
p.Lys47Ter Single submitter Fanconi anemia
p.Lys552Ter Single submitter Fanconi anemia complementation group C
p.Met254fs Single submitter hereditary neoplastic syndrome
p.Met443fs Single submitter Fanconi anemia
p.Met48fs Single submitter Fanconi anemia
p.Phe258fs Single submitter hereditary neoplastic syndrome
p.Phe318fs Single submitter hereditary neoplastic syndrome
p.Phe335fs Single submitter Fanconi anemia complementation group C
p.Phe400fs Single submitter Fanconi anemia
p.Phe79fs Single submitter Fanconi anemia
p.Ser108Ter Single submitter Fanconi anemia
p.Ser119fs Single submitter Fanconi anemia
p.Ser26fs Single submitter Fanconi anemia
p.Ser393fs Single submitter Fanconi anemia
p.Ser543_Glu544insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrIleProAlaXaaXaaXaaXaaLysLysLysGluSerProArgSer Single submitter Fanconi anemia
p.Ser5Ter Single submitter hereditary neoplastic syndrome
p.Ser9delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTyrGlnProSerThrValGlyHisGlyIleLysThrArgAsnThrSerTer Single submitter Fanconi anemia
p.Thr192fs Single submitter Fanconi anemia
p.Thr319fs Single submitter Fanconi anemia
p.Trp394Ter Single submitter Fanconi anemia
p.Trp506Ter Single submitter Fanconi anemia
p.Trp76fs Single submitter Fanconi anemia
p.Tyr429fs Single submitter Fanconi anemia
p.Val6fs Single submitter Fanconi anemia
p.Ala498= No assertion criteria Fanconi anemia complementation group C
p.Trp533Ter No assertion criteria Fanconi anemia complementation group C
c.166-165_250+3del No assertion criteria breast cancer
c.166-620_250+3083delinsAACTAAATTTACTTTTT No assertion criteria Fanconi anemia complementation group C
c.-262_-79+3686del No assertion criteria Fanconi anemia complementation group C
p.Glu221fs No assertion criteria Fanconi anemia complementation group C
p.Ile518fs No assertion criteria Fanconi anemia complementation group C
p.Leu496Arg No assertion criteria Fanconi anemia complementation group C
p.Ser156fs No assertion criteria Fanconi anemia complementation group C

Pathogenic/Likely pathogenic 73

c.1073-1G>C Multiple submitters hereditary neoplastic syndrome
c.1155-1G>C Multiple submitters hereditary neoplastic syndrome
p.Thr420fs Multiple submitters Fanconi anemia complementation group A
c.165+1G>T Multiple submitters FANCC-related disorder
c.166-2A>G Multiple submitters FANCC-related disorder
c.251-2A>C Multiple submitters hereditary neoplastic syndrome
c.346-1G>A Multiple submitters FANCC-related disorder
c.521+1G>A Multiple submitters Fanconi anemia complementation group C
c.843+1G>A Multiple submitters Fanconi anemia
c.843+1G>T Multiple submitters hereditary neoplastic syndrome
c.844-1G>A Multiple submitters Fanconi anemia complementation group C
c.844-1G>C Multiple submitters FANCC-related disorder
c.996+1G>A Multiple submitters hereditary neoplastic syndrome
c.996+1G>T Multiple submitters FANCC-related disorder
p.Ala464fs Multiple submitters hereditary neoplastic syndrome
p.Ala74fs Multiple submitters Fanconi anemia complementation group C
p.Arg126fs Multiple submitters Fanconi anemia complementation group C
p.Arg174Ter Multiple submitters FANCC-related disorder
p.Arg179Ter Multiple submitters Fanconi anemia complementation group C
p.Arg270Ter Multiple submitters Fanconi anemia
p.Arg548Ter Multiple submitters FANCC-related disorder
p.Asn164fs Multiple submitters hereditary neoplastic syndrome
p.Asn99fs Multiple submitters Fanconi anemia
p.Asp295fs Multiple submitters Fanconi anemia complementation group C
p.Asp4fs Multiple submitters Fanconi anemia complementation group C
p.Cys10fs Multiple submitters hereditary neoplastic syndrome
p.Cys95fs Multiple submitters hereditary neoplastic syndrome
p.Gln107Ter Multiple submitters hereditary neoplastic syndrome
p.Gln24Ter Multiple submitters hereditary neoplastic syndrome
p.Gln316Ter Multiple submitters hereditary neoplastic syndrome
p.Gln332Ter Multiple submitters Fanconi anemia
p.Gln357Ter Multiple submitters hereditary neoplastic syndrome
p.Gln3fs Multiple submitters hereditary neoplastic syndrome
p.Gln42Ter Multiple submitters Fanconi anemia
p.Gln437Ter Multiple submitters hereditary neoplastic syndrome
p.Gln445Ter Multiple submitters hereditary neoplastic syndrome
p.Gln465fs Multiple submitters hereditary neoplastic syndrome
p.Gln485fs Multiple submitters Fanconi anemia
p.Glu163fs Multiple submitters hereditary neoplastic syndrome
p.Glu225Ter Multiple submitters Fanconi anemia complementation group C
p.Glu43fs Multiple submitters Fanconi anemia
p.Gly388Ter Multiple submitters hereditary neoplastic syndrome
p.Gly401fs Multiple submitters hereditary neoplastic syndrome
p.Gly435fs Multiple submitters hereditary neoplastic syndrome
p.His37fs Multiple submitters Fanconi anemia
p.Ile121fs Multiple submitters Fanconi anemia complementation group C
p.Ile312fs Multiple submitters Fanconi anemia
p.Ile89_Leu90insTer Multiple submitters Fanconi anemia
p.Ile89fs Multiple submitters hereditary neoplastic syndrome
p.Ile98fs Multiple submitters Fanconi anemia
p.Leu199fs Multiple submitters colon carcinoma
p.Leu348fs Multiple submitters hereditary neoplastic syndrome
p.Leu368fs Multiple submitters Fanconi anemia
p.Leu554Pro Multiple submitters FANCC-related disorder
p.Met1Ile Multiple submitters hereditary neoplastic syndrome
p.Met236fs Multiple submitters Fanconi anemia
p.Phe127fs Multiple submitters hereditary neoplastic syndrome
p.Phe169fs Multiple submitters hereditary neoplastic syndrome
p.Phe275_Ile276insTer Multiple submitters Fanconi anemia
p.Ser459fs Multiple submitters hereditary neoplastic syndrome
p.Ser543Ter Multiple submitters Fanconi anemia
p.Ser57fs Multiple submitters hereditary neoplastic syndrome
p.Thr420fs Multiple submitters FANCC-related disorder
p.Thr477fs Multiple submitters Fanconi anemia complementation group C
p.Thr519fs Multiple submitters hereditary neoplastic syndrome
p.Trp113Ter Multiple submitters Fanconi anemia
p.Trp15Ter Multiple submitters Fanconi anemia
p.Trp497Ter Multiple submitters Fanconi anemia
p.Trp76Ter Multiple submitters Fanconi anemia
p.Trp92Ter Multiple submitters Fanconi anemia
p.Tyr430Ter Multiple submitters Fanconi anemia
p.Tyr531Ter Multiple submitters Fanconi anemia
p.Val154fs Multiple submitters Fanconi anemia complementation group C

Likely pathogenic 112

c.1072+2T>A Multiple submitters Fanconi anemia
c.1155-2A>G Multiple submitters Fanconi anemia
c.165+1del Multiple submitters hereditary neoplastic syndrome
c.345+1G>A Multiple submitters hereditary neoplastic syndrome
c.457-2A>G Multiple submitters hereditary neoplastic syndrome
c.522-1G>C Multiple submitters hereditary neoplastic syndrome
c.686+1G>C Multiple submitters Fanconi anemia complementation group C
c.687-1G>A Multiple submitters hereditary neoplastic syndrome
c.843+1G>C Multiple submitters Fanconi anemia
c.896+1G>C Multiple submitters Fanconi anemia
c.896+2T>A Multiple submitters Fanconi anemia
c.896+2T>G Multiple submitters Fanconi anemia
c.996+1_996+2insGA Multiple submitters hereditary neoplastic syndrome
p.Asn267_Cys268insTer Multiple submitters Fanconi anemia complementation group C
p.Gln366Ter Multiple submitters Fanconi anemia
c.1060_1072+3del Single submitter Fanconi anemia
c.1072+1G>A Single submitter Fanconi anemia
c.1073-2A>G Single submitter Fanconi anemia complementation group C
c.1155-1G>A Single submitter hereditary neoplastic syndrome
c.1155-1G>T Single submitter FANCC-related disorder
c.1329+1del Single submitter Fanconi anemia complementation group C
c.1329+1G>C Single submitter Fanconi anemia
c.1329+1G>T Single submitter Fanconi anemia
c.1330-1G>A Single submitter Fanconi anemia
c.1330-2A>C Single submitter Fanconi anemia
c.1330-2A>G Single submitter Fanconi anemia
c.1534-1G>T Single submitter hereditary neoplastic syndrome
c.250+1G>A Single submitter Fanconi anemia
c.250+1G>T Single submitter Fanconi anemia complementation group C
c.345+1del Single submitter Fanconi anemia complementation group C
c.346-1G>C Single submitter Fanconi anemia complementation group C
c.346-1G>T Single submitter Fanconi anemia
c.456+1G>A Single submitter Fanconi anemia
c.457-1G>T Single submitter Fanconi anemia
c.521+1G>T Single submitter hereditary neoplastic syndrome
c.521+2T>A Single submitter Fanconi anemia
c.522-1G>A Single submitter
c.686+1G>T Single submitter Fanconi anemia
c.844-1G>T Single submitter Fanconi anemia
c.996+1G>C Single submitter Fanconi anemia
c.996+2T>C Single submitter Fanconi anemia
c.997-1G>A Single submitter hereditary neoplastic syndrome
p.Ala141fs Single submitter Fanconi anemia complementation group C
p.Arg162fs Single submitter Fanconi anemia
p.Arg433fs Single submitter Fanconi anemia complementation group C
p.Arg436fs Single submitter Fanconi anemia complementation group C
p.Arg439fs Single submitter
p.Arg488fs Single submitter Fanconi anemia
p.Cys187fs Single submitter Fanconi anemia complementation group C
p.Cys274Ter Single submitter Fanconi anemia complementation group C
p.Cys286fs Single submitter Fanconi anemia complementation group C
p.Cys387Ter Single submitter Fanconi anemia
p.Cys75Ter Single submitter Fanconi anemia complementation group C
p.Gln136Ter Single submitter Fanconi anemia complementation group C
p.Gln172Ter Single submitter Fanconi anemia complementation group C
p.Gln212Ter Single submitter Fanconi anemia complementation group C
p.Gln332= Single submitter Fanconi anemia complementation group C
p.Gln40fs Single submitter Fanconi anemia complementation group C
p.Gln410fs Single submitter Fanconi anemia complementation group C
p.Gln484Ter Single submitter
p.Glu130fs Single submitter Fanconi anemia complementation group C
p.Glu130Ter Single submitter
p.Glu210Ter Single submitter
p.Glu221Ter Single submitter Fanconi anemia complementation group C
p.Glu259Ter Single submitter FANCC-related disorder
p.Glu265Ter Single submitter Fanconi anemia complementation group C
p.Glu310Ter Single submitter Fanconi anemia
p.Glu327fs Single submitter Fanconi anemia
p.Glu417fs Single submitter Fanconi anemia
p.Glu85fs Single submitter Fanconi anemia
p.Gly106fs Single submitter Fanconi anemia complementation group C
p.Gly307fs Single submitter Fanconi anemia complementation group C
p.Gly362Ter Single submitter Fanconi anemia complementation group C
p.His165fs Single submitter Fanconi anemia complementation group C
p.His363fs Single submitter FANCC-related disorder
p.His452fs Single submitter Fanconi anemia complementation group C
p.Ile290fs Single submitter
p.Leu118_Ser119insTer Single submitter Fanconi anemia complementation group C
p.Leu155Ter Single submitter Fanconi anemia complementation group C
p.Leu183fs Single submitter Fanconi anemia complementation group C
p.Leu228fs Single submitter Fanconi anemia complementation group C
p.Leu303fs Single submitter Fanconi anemia complementation group C
p.Met413fs Single submitter Fanconi anemia
p.Met55fs Single submitter Fanconi anemia complementation group C
p.Pro235Leu Single submitter ovarian cancer ⚠
p.Pro248_Ser249insTer Single submitter Fanconi anemia complementation group C
p.Ser123Ter Single submitter
p.Ser233fs Single submitter Fanconi anemia
p.Ser279Ter Single submitter Fanconi anemia complementation group C
p.Ser9fs Single submitter Fanconi anemia complementation group C
p.Thr59fs Single submitter
p.Trp364Ter Single submitter Fanconi anemia complementation group C
p.Trp403Ter Single submitter Fanconi anemia complementation group C
p.Trp92fs Single submitter Fanconi anemia
p.Tyr12fs Single submitter Fanconi anemia
p.Tyr343Ter Single submitter Fanconi anemia complementation group C
p.Tyr83Ter Single submitter Fanconi anemia complementation group C
p.Val444Gly Single submitter ovarian cancer ⚠
p.Val60fs Single submitter Fanconi anemia complementation group C
p.Tyr343Ter Single submitter Fanconi anemia complementation group C
c.1533+2T>C No assertion criteria Fanconi anemia complementation group C
c.1534-2A>G No assertion criteria Fanconi anemia complementation group C
c.897-1G>A No assertion criteria Fanconi anemia complementation group C
p.Asp278fs No assertion criteria Fanconi anemia complementation group C
p.Gln103Ter No assertion criteria Fanconi anemia complementation group C
p.Gln382fs No assertion criteria Fanconi anemia complementation group C
p.Gly500Ter No assertion criteria Fanconi anemia complementation group C
p.His384fs No assertion criteria Fanconi anemia complementation group C
p.Ser347fs No assertion criteria Fanconi anemia complementation group C
p.Ser414Ter No assertion criteria Fanconi anemia complementation group C
p.Trp533Ter No assertion criteria Fanconi anemia complementation group C
p.Tyr531fs No assertion criteria Fanconi anemia complementation group C

Conflicting classifications of pathogenicity 147

c.1073-5C>T Single submitter Fanconi anemia
c.1154+2dup Single submitter hereditary neoplastic syndrome
c.1329+212C>T Single submitter
c.1330-10T>C Single submitter Fanconi anemia
c.1533+1G>C Single submitter hereditary neoplastic syndrome
c.1533+1G>T Single submitter Fanconi anemia
c.1534-5del Single submitter Fanconi anemia
c.1534-5T>C Single submitter hereditary neoplastic syndrome
c.165+2_165+3insTT Single submitter hereditary neoplastic syndrome
c.166-4_166-1dup Single submitter hereditary neoplastic syndrome
c.166-5C>T Single submitter hereditary neoplastic syndrome
c.345+4AG[2] Single submitter Hereditary cancer
c.345+6A>T Single submitter Fanconi anemia
c.345+9_345+11del Single submitter Fanconi anemia
c.346-3del Single submitter Fanconi anemia
c.457-4A>G Single submitter Fanconi anemia
p.Thr192= Single submitter hereditary neoplastic syndrome
c.686+5G>A Single submitter Fanconi anemia
c.843+5G>A Single submitter hereditary neoplastic syndrome
c.896+6C>T Single submitter Fanconi anemia
c.897-10C>T Single submitter Fanconi anemia complementation group C
c.897-3C>T Single submitter Fanconi anemia complementation group C
c.897-6G>A Single submitter Fanconi anemia
c.997-14C>A Single submitter Fanconi anemia
c.-155A>C Single submitter Fanconi anemia complementation group C
c.-225C>T Single submitter Fanconi anemia complementation group C
c.-3A>G Single submitter hereditary neoplastic syndrome
c.-78-1G>C Single submitter Fanconi anemia
c.-78-2A>G Single submitter Fanconi anemia
c.-79+1G>A Single submitter Fanconi anemia
c.*14C>T Single submitter Fanconi anemia complementation group C
c.*7C>T Single submitter Fanconi anemia
c.*8G>A Single submitter
c.*96A>G Single submitter Fanconi anemia complementation group C
p.Ala132Gly Single submitter Hereditary cancer ⚠
p.Ala158Pro Single submitter Fanconi anemia complementation group C ⚠
p.Ala158Val Single submitter Fanconi anemia ⚠
p.Ala415Glu Single submitter hereditary neoplastic syndrome ⚠
p.Ala415Val Single submitter Fanconi anemia complementation group C ⚠
p.Ala427= Single submitter Fanconi anemia complementation group C
p.Ala455Ser Single submitter Fanconi anemia ⚠
p.Ala498= Single submitter hereditary neoplastic syndrome
p.Arg179Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg185Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg209His Single submitter hereditary neoplastic syndrome ⚠
p.Arg334Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg334Trp Single submitter hereditary neoplastic syndrome ⚠
p.Arg361Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg361Trp Single submitter hereditary neoplastic syndrome ⚠
p.Arg433Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg458Ser Single submitter Hereditary cancer ⚠
p.Arg532= Single submitter hereditary neoplastic syndrome
p.Arg532Lys Single submitter hereditary neoplastic syndrome ⚠
p.Arg535His Single submitter hereditary neoplastic syndrome ⚠
p.Arg555Ter Single submitter hereditary neoplastic syndrome
p.Asn164Thr Single submitter hereditary neoplastic syndrome ⚠
p.Asn224= Single submitter hereditary neoplastic syndrome
p.Asp195Val Single submitter hereditary neoplastic syndrome ⚠
p.Asp197Glu Single submitter hereditary neoplastic syndrome ⚠
p.Asp197Val Single submitter hereditary neoplastic syndrome ⚠
p.Asp355Glu Single submitter hereditary breast ovarian cancer syndrome ⚠
p.Asp355His Single submitter hereditary neoplastic syndrome ⚠
p.Asp476Gly Single submitter hereditary neoplastic syndrome ⚠
p.Asp56Gly Single submitter hereditary neoplastic syndrome ⚠
p.Cys10Gly Single submitter hereditary neoplastic syndrome ⚠
p.Cys10Tyr Single submitter Hereditary cancer ⚠
p.Cys387Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gln136Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gln357= Single submitter hereditary neoplastic syndrome
p.Gln357Glu Single submitter Fanconi anemia complementation group C ⚠
p.Gln382Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gln437Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gln445Glu Single submitter hereditary neoplastic syndrome ⚠
p.Glu178Asp Single submitter Fanconi anemia ⚠
p.Glu178Lys Single submitter Fanconi anemia ⚠
p.Glu225= Single submitter Fanconi anemia
p.Glu273Lys Single submitter Hereditary cancer ⚠
p.Glu324= Single submitter hereditary neoplastic syndrome
p.Glu377Asp Single submitter hereditary neoplastic syndrome ⚠
p.Glu405Asp Single submitter hereditary neoplastic syndrome ⚠
p.Glu417Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu43Lys Single submitter Fanconi anemia complementation group A ⚠
p.Gly388Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gly431Ser Single submitter Fanconi anemia complementation group C ⚠
p.Gly451Asp Single submitter hereditary neoplastic syndrome ⚠
p.Gly451Ser Single submitter Fanconi anemia ⚠
p.Gly472Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gly537Cys Single submitter hereditary neoplastic syndrome ⚠
p.His165= Single submitter Fanconi anemia
p.His452Arg Single submitter hereditary neoplastic syndrome ⚠
p.His514Gln Single submitter hereditary neoplastic syndrome ⚠
p.Ile114Val Single submitter hereditary neoplastic syndrome ⚠
p.Ile227Val Single submitter hereditary neoplastic syndrome ⚠
p.Ile272Met Single submitter Fanconi anemia ⚠
p.Ile312Val Single submitter Hereditary cancer ⚠
p.Ile398Met Single submitter Fanconi anemia ⚠
p.Ile509= Single submitter Fanconi anemia
p.Ile538Val Single submitter hereditary neoplastic syndrome ⚠
p.Ile80Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ile80Val Single submitter hereditary neoplastic syndrome ⚠
p.Ile91Val Single submitter hereditary neoplastic syndrome ⚠
p.Leu203= Single submitter Fanconi anemia
p.Leu353= Single submitter Fanconi anemia complementation group C
p.Leu422Met Single submitter hereditary neoplastic syndrome ⚠
p.Leu479Pro Single submitter Fanconi anemia complementation group C ⚠
p.Lys230= Single submitter Fanconi anemia
p.Lys231= Single submitter Fanconi anemia
p.Lys338= Single submitter hereditary neoplastic syndrome
p.Lys545Arg Single submitter hereditary neoplastic syndrome ⚠
p.Lys552Arg Single submitter hereditary neoplastic syndrome ⚠
p.Met16Leu Single submitter Fanconi anemia ⚠
p.Met1Thr Single submitter Fanconi anemia complementation group C
p.Met236Thr Single submitter hereditary neoplastic syndrome ⚠
p.Met254Val Single submitter Fanconi anemia complementation group C ⚠
p.Met350Val Single submitter hereditary neoplastic syndrome ⚠
p.Met406Ile Single submitter hereditary neoplastic syndrome ⚠
p.Pro211Arg Single submitter hereditary neoplastic syndrome ⚠
p.Pro235= Single submitter hereditary neoplastic syndrome
p.Pro390= Single submitter hereditary neoplastic syndrome
p.Pro418Ser Single submitter hereditary neoplastic syndrome ⚠
p.Pro541Leu Single submitter hereditary neoplastic syndrome ⚠
p.Ser264Arg Single submitter hereditary neoplastic syndrome ⚠
p.Ser26Phe Single submitter hereditary neoplastic syndrome ⚠
p.Ser280Leu Single submitter FANCC-related disorder ⚠
p.Ser345Ala Single submitter hereditary neoplastic syndrome ⚠
p.Ser372Pro Single submitter hereditary neoplastic syndrome
p.Ser386Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ser414Leu Single submitter Fanconi anemia complementation group C ⚠
p.Ser5Leu Single submitter hereditary neoplastic syndrome ⚠
p.Thr344Ala Single submitter hereditary neoplastic syndrome ⚠
p.Thr469Met Single submitter hereditary neoplastic syndrome ⚠
p.Thr475Pro Single submitter hereditary neoplastic syndrome ⚠
p.Thr503= Single submitter hereditary neoplastic syndrome
p.Thr503Met Single submitter hereditary neoplastic syndrome ⚠
p.Thr510Asn Single submitter Fanconi anemia ⚠
p.Thr59Ile Single submitter Fanconi anemia complementation group C ⚠
p.Trp506Arg Single submitter hereditary neoplastic syndrome ⚠
p.Tyr146= Single submitter hereditary neoplastic syndrome
p.Tyr146del Single submitter hereditary neoplastic syndrome
p.Val188Ile Single submitter hereditary neoplastic syndrome ⚠
p.Val196Phe Single submitter hereditary neoplastic syndrome ⚠
p.Val223Ala Single submitter hereditary neoplastic syndrome
p.Val294Ala Single submitter hereditary neoplastic syndrome ⚠
p.Val38Leu Single submitter hereditary neoplastic syndrome ⚠
p.Val38Met Single submitter Fanconi anemia complementation group C ⚠
p.Val60Ile Single submitter Hereditary cancer ⚠
c.1329+181_1329+183del No assertion criteria FANCC-related disorder

Benign 37

c.1155-38T>C Multiple submitters Fanconi anemia complementation group C
c.1329+310C>T Multiple submitters
c.1329+406C>T Multiple submitters
c.1330-141T>C Multiple submitters
c.521+109A>G Multiple submitters Fanconi anemia complementation group C
c.686+30C>T Multiple submitters
c.896+81G>A Multiple submitters
c.-29A>C Multiple submitters Fanconi anemia
c.-79+216A>G Multiple submitters
c.-79+24854T>C Multiple submitters
c.*116A>C Multiple submitters Fanconi anemia complementation group C
c.*1288T>C Multiple submitters Fanconi anemia complementation group C
c.*1662C>T Multiple submitters Fanconi anemia complementation group C
c.*1727T>A Multiple submitters Fanconi anemia complementation group C
c.*1871G>A Multiple submitters Fanconi anemia complementation group C
c.*42G>A Multiple submitters Fanconi anemia complementation group C
p.Gln136= Multiple submitters hereditary neoplastic syndrome
p.Val449Met Multiple submitters hereditary neoplastic syndrome
c.1329+16del Single submitter Fanconi anemia
c.1329+306C>T Single submitter Fanconi anemia complementation group A
c.250+196AC[13] Single submitter
c.250+196AC[14] Single submitter
c.250+220G>A Single submitter
c.251-5del Single submitter Fanconi anemia
c.346-18del Single submitter Fanconi anemia
c.687-288C>T Single submitter
c.843+125G>A Single submitter
c.996+1752A>G Single submitter X-linked central congenital hypothyroidism with late-onset testicular enlargement
c.997-216_997-215insATTTATT Single submitter
c.-78-262T>C Single submitter
c.-79+19952A>C Single submitter
c.-79+206_-79+219del Single submitter
c.-79+216_-79+217insGGCGGG Single submitter
c.*1968G>A Single submitter Fanconi anemia complementation group C
c.*2085C>A Single submitter Fanconi anemia complementation group C
c.*2552T>C Single submitter Fanconi anemia complementation group C
c.*359A>G Single submitter Fanconi anemia complementation group C

Benign/Likely benign 34

c.1329+111C>T Multiple submitters Fanconi anemia
c.1329+175C>T Multiple submitters Fanconi anemia complementation group C
c.1330-3C>T Multiple submitters hereditary neoplastic syndrome
c.1533+13G>A Multiple submitters Fanconi anemia
c.1534-18C>T Multiple submitters Fanconi anemia
c.1534-9T>C Multiple submitters Fanconi anemia
c.166-7T>C Multiple submitters Fanconi anemia
c.166-9C>G Multiple submitters Fanconi anemia
c.251-20T>C Multiple submitters Fanconi anemia
c.457-18A>G Multiple submitters Fanconi anemia
c.457-7T>C Multiple submitters Fanconi anemia complementation group C
c.522-4A>G Multiple submitters hereditary neoplastic syndrome
c.687-15A>C Multiple submitters Fanconi anemia
c.843+4C>T Multiple submitters hereditary neoplastic syndrome
c.897-19C>T Multiple submitters Fanconi anemia
c.-79+5G>A Multiple submitters Fanconi anemia
c.-79+7G>T Multiple submitters Fanconi anemia
c.-87G>A Multiple submitters Fanconi anemia complementation group A
c.*5C>T Multiple submitters hereditary neoplastic syndrome
p.Ala325Thr Multiple submitters hereditary neoplastic syndrome
p.Gln465Arg Multiple submitters hereditary neoplastic syndrome
p.Gly139Glu Multiple submitters hereditary neoplastic syndrome
p.Ile272= Multiple submitters hereditary neoplastic syndrome
p.Leu302= Multiple submitters hereditary neoplastic syndrome
p.Leu495= Multiple submitters hereditary neoplastic syndrome
p.Phe44= Multiple submitters hereditary neoplastic syndrome
p.Pro177= Multiple submitters hereditary neoplastic syndrome
p.Pro189= Multiple submitters hereditary neoplastic syndrome
p.Ser280= Multiple submitters hereditary neoplastic syndrome
p.Ser414= Multiple submitters hereditary neoplastic syndrome
p.Thr305= Multiple submitters hereditary neoplastic syndrome
p.Thr469= Multiple submitters hereditary neoplastic syndrome
p.Tyr430= Multiple submitters Fanconi anemia
p.Val294= Multiple submitters hereditary neoplastic syndrome

Likely benign 657

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

p.Ser280= Multiple submitters Fanconi anemia
p.Leu353= Multiple submitters Fanconi anemia
c.1072+14G>C Multiple submitters Fanconi anemia
c.1072+20G>A Multiple submitters Fanconi anemia
c.1073-11T>C Multiple submitters Fanconi anemia
c.1073-18A>C Multiple submitters Fanconi anemia
c.1073-20G>A Multiple submitters Fanconi anemia
c.1073-4G>A Multiple submitters hereditary neoplastic syndrome
c.1073-8A>G Multiple submitters Fanconi anemia
c.1155-13G>C Multiple submitters Fanconi anemia
c.1155-13G>T Multiple submitters Fanconi anemia
c.1155-14T>G Multiple submitters Fanconi anemia
c.1155-16T>G Multiple submitters Fanconi anemia
p.Pro390= Multiple submitters Fanconi anemia
p.Pro419= Multiple submitters hereditary neoplastic syndrome
c.1329+10A>G Multiple submitters Fanconi anemia complementation group A
c.1329+192C>T Multiple submitters
c.1329+198G>T Multiple submitters
c.1329+213G>A Multiple submitters
c.1329+554A>G Multiple submitters
c.1330-11C>T Multiple submitters Fanconi anemia
c.1330-4C>G Multiple submitters hereditary neoplastic syndrome
c.1330-6G>T Multiple submitters Fanconi anemia
c.1330-9A>G Multiple submitters Fanconi anemia
p.Leu479= Multiple submitters hereditary neoplastic syndrome
p.Leu495= Multiple submitters hereditary neoplastic syndrome
c.1534-8G>T Multiple submitters Fanconi anemia
p.Arg532= Multiple submitters Fanconi anemia
p.Leu536= Multiple submitters hereditary neoplastic syndrome
c.165+10G>A Multiple submitters Fanconi anemia
c.165+12A>G Multiple submitters Fanconi anemia
c.165+17A>G Multiple submitters Fanconi anemia
c.250+16G>A Multiple submitters Fanconi anemia complementation group C
c.251-4G>A Multiple submitters hereditary neoplastic syndrome
c.346-323A>G Multiple submitters
c.346-8T>C Multiple submitters Fanconi anemia complementation group C
c.456+20C>T Multiple submitters Fanconi anemia
c.457-12T>A Multiple submitters Fanconi anemia
c.521+10_521+13del Multiple submitters Fanconi anemia
c.522-6C>T Multiple submitters Fanconi anemia
p.Leu183= Multiple submitters Fanconi anemia
c.686+16T>G Multiple submitters Fanconi anemia
c.843+12G>A Multiple submitters Fanconi anemia complementation group C
c.844-10_844-8del Multiple submitters Fanconi anemia
c.844-14T>C Multiple submitters Fanconi anemia
c.896+13_896+48del Multiple submitters Fanconi anemia
c.896+14T>C Multiple submitters Fanconi anemia
c.897-8T>C Multiple submitters Fanconi anemia
p.Ala308= Multiple submitters hereditary neoplastic syndrome
c.996+12C>A Multiple submitters Fanconi anemia
c.996+9dup Multiple submitters Fanconi anemia
c.996+9T>C Multiple submitters Fanconi anemia
c.997-15T>C Multiple submitters Fanconi anemia
c.997-6T>C Multiple submitters Fanconi anemia
c.-13C>T Multiple submitters Fanconi anemia
c.-18C>G Multiple submitters Fanconi anemia
c.-19C>A Multiple submitters Fanconi anemia
c.-36G>A Multiple submitters Fanconi anemia
c.-41A>G Multiple submitters Fanconi anemia
c.-48G>A Multiple submitters Fanconi anemia
c.-61C>G Multiple submitters Fanconi anemia
c.-65C>G Multiple submitters Fanconi anemia
c.-65C>T Multiple submitters Fanconi anemia
c.-66C>T Multiple submitters Fanconi anemia
c.-71G>A Multiple submitters Fanconi anemia
c.-78-18T>G Multiple submitters Fanconi anemia complementation group C
p.Ala124= Multiple submitters hereditary neoplastic syndrome
p.Ala141= Multiple submitters hereditary neoplastic syndrome
p.Ala176= Multiple submitters Fanconi anemia
p.Ala222= Multiple submitters hereditary neoplastic syndrome
p.Ala226= Multiple submitters hereditary neoplastic syndrome
p.Ala289= Multiple submitters hereditary neoplastic syndrome
p.Ala301= Multiple submitters hereditary neoplastic syndrome
p.Ala308= Multiple submitters hereditary neoplastic syndrome
p.Ala378= Multiple submitters hereditary neoplastic syndrome
p.Ala39= Multiple submitters hereditary neoplastic syndrome
p.Ala404= Multiple submitters hereditary neoplastic syndrome
p.Ala416= Multiple submitters hereditary neoplastic syndrome
p.Ala448= Multiple submitters hereditary neoplastic syndrome
p.Ala455= Multiple submitters hereditary neoplastic syndrome
p.Ala72= Multiple submitters hereditary neoplastic syndrome
p.Ala74= Multiple submitters Fanconi anemia
p.Ala82= Multiple submitters hereditary neoplastic syndrome
p.Arg292= Multiple submitters hereditary neoplastic syndrome
p.Arg334= Multiple submitters hereditary neoplastic syndrome
p.Arg436= Multiple submitters hereditary neoplastic syndrome
p.Arg439= Multiple submitters hereditary neoplastic syndrome
p.Arg46= Multiple submitters Fanconi anemia
p.Arg480= Multiple submitters hereditary neoplastic syndrome
p.Arg542= Multiple submitters hereditary neoplastic syndrome
p.Arg555= Multiple submitters hereditary neoplastic syndrome
p.Asn111= Multiple submitters hereditary neoplastic syndrome
p.Asn167= Multiple submitters hereditary neoplastic syndrome
p.Asn170= Multiple submitters hereditary neoplastic syndrome
p.Asn267= Multiple submitters Fanconi anemia
p.Asp278= Multiple submitters hereditary neoplastic syndrome
p.Asp434= Multiple submitters hereditary neoplastic syndrome
p.Cys10= Multiple submitters hereditary neoplastic syndrome
p.Cys300= Multiple submitters hereditary neoplastic syndrome
p.Cys387= Multiple submitters hereditary neoplastic syndrome
p.Cys96= Multiple submitters hereditary neoplastic syndrome
p.Gln107= Multiple submitters hereditary neoplastic syndrome
p.Gln17= Multiple submitters Fanconi anemia
p.Gln172= Multiple submitters Fanconi anemia
p.Gln216= Multiple submitters Fanconi anemia
p.Gln283= Multiple submitters hereditary neoplastic syndrome
p.Gln320= Multiple submitters hereditary neoplastic syndrome
p.Gln366= Multiple submitters hereditary neoplastic syndrome
p.Gln40= Multiple submitters hereditary neoplastic syndrome
p.Gln42= Multiple submitters hereditary neoplastic syndrome
p.Gln465= Multiple submitters hereditary neoplastic syndrome
p.Gln485= Multiple submitters hereditary neoplastic syndrome
p.Gln528= Multiple submitters hereditary neoplastic syndrome
p.Gln69= Multiple submitters Fanconi anemia
p.Glu218= Multiple submitters hereditary neoplastic syndrome
p.Glu221= Multiple submitters hereditary neoplastic syndrome
p.Glu251= Multiple submitters Fanconi anemia
p.Glu273= Multiple submitters hereditary neoplastic syndrome
p.Glu296= Multiple submitters Fanconi anemia
p.Glu409= Multiple submitters Fanconi anemia
p.Glu43= Multiple submitters hereditary neoplastic syndrome
p.Gly139= Multiple submitters hereditary neoplastic syndrome
p.Gly307= Multiple submitters Fanconi anemia
p.Gly362= Multiple submitters hereditary neoplastic syndrome
p.Gly402= Multiple submitters hereditary neoplastic syndrome
p.Gly431= Multiple submitters hereditary neoplastic syndrome
p.Gly435= Multiple submitters hereditary neoplastic syndrome
p.Gly451= Multiple submitters hereditary neoplastic syndrome
p.Gly501= Multiple submitters Fanconi anemia complementation group C
p.Gly537= Multiple submitters hereditary neoplastic syndrome
p.Gly68= Multiple submitters hereditary neoplastic syndrome
p.His207= Multiple submitters hereditary neoplastic syndrome
p.His246= Multiple submitters Fanconi anemia
p.His363= Multiple submitters hereditary neoplastic syndrome
p.His37= Multiple submitters hereditary neoplastic syndrome
p.His384= Multiple submitters Fanconi anemia
p.His489= Multiple submitters hereditary neoplastic syndrome
p.His502= Multiple submitters hereditary neoplastic syndrome
p.His520= Multiple submitters hereditary neoplastic syndrome
p.Ile205= Multiple submitters hereditary neoplastic syndrome
p.Ile214= Multiple submitters hereditary neoplastic syndrome
p.Ile504= Multiple submitters Fanconi anemia
p.Ile80= Multiple submitters hereditary neoplastic syndrome
p.Ile98= Multiple submitters hereditary neoplastic syndrome
p.Leu133= Multiple submitters hereditary neoplastic syndrome
p.Leu149= Multiple submitters Fanconi anemia
p.Leu155= Multiple submitters hereditary neoplastic syndrome
p.Leu157= Multiple submitters hereditary neoplastic syndrome
p.Leu166= Multiple submitters Fanconi anemia
p.Leu183= Multiple submitters hereditary neoplastic syndrome
p.Leu193= Multiple submitters hereditary neoplastic syndrome
p.Leu215= Multiple submitters hereditary neoplastic syndrome
p.Leu234= Multiple submitters hereditary neoplastic syndrome
p.Leu261= Multiple submitters hereditary neoplastic syndrome
p.Leu303= Multiple submitters hereditary neoplastic syndrome
p.Leu337= Multiple submitters Fanconi anemia
p.Leu365= Multiple submitters hereditary neoplastic syndrome
p.Leu375= Multiple submitters hereditary neoplastic syndrome
p.Leu412= Multiple submitters Fanconi anemia
p.Leu450= Multiple submitters hereditary neoplastic syndrome
p.Leu453= Multiple submitters hereditary neoplastic syndrome
p.Leu479= Multiple submitters hereditary neoplastic syndrome
p.Leu491= Multiple submitters hereditary neoplastic syndrome
p.Leu496= Multiple submitters hereditary neoplastic syndrome
p.Leu511= Multiple submitters Fanconi anemia
p.Leu530= Multiple submitters hereditary neoplastic syndrome
p.Leu546= Multiple submitters hereditary neoplastic syndrome
p.Lys109= Multiple submitters hereditary neoplastic syndrome
p.Lys129= Multiple submitters hereditary neoplastic syndrome
p.Lys331= Multiple submitters hereditary neoplastic syndrome
p.Lys369= Multiple submitters Fanconi anemia
p.Phe14= Multiple submitters hereditary neoplastic syndrome
p.Phe341= Multiple submitters Fanconi anemia
p.Phe397= Multiple submitters hereditary neoplastic syndrome
p.Phe400= Multiple submitters hereditary neoplastic syndrome
p.Pro102= Multiple submitters hereditary neoplastic syndrome
p.Pro198= Multiple submitters hereditary neoplastic syndrome
p.Pro211= Multiple submitters hereditary neoplastic syndrome
p.Pro248= Multiple submitters hereditary neoplastic syndrome
p.Pro418= Multiple submitters Fanconi anemia
p.Pro419= Multiple submitters hereditary neoplastic syndrome
p.Pro482= Multiple submitters hereditary neoplastic syndrome
p.Pro499= Multiple submitters hereditary neoplastic syndrome
p.Pro541= Multiple submitters hereditary neoplastic syndrome
p.Ser112= Multiple submitters Fanconi anemia
p.Ser184= Multiple submitters Fanconi anemia
p.Ser20= Multiple submitters hereditary neoplastic syndrome
p.Ser26= Multiple submitters hereditary neoplastic syndrome
p.Ser345= Multiple submitters hereditary neoplastic syndrome
p.Ser393= Multiple submitters hereditary neoplastic syndrome
p.Ser540= Multiple submitters hereditary neoplastic syndrome
p.Ser9= Multiple submitters hereditary neoplastic syndrome
p.Thr192= Multiple submitters hereditary neoplastic syndrome
p.Thr319= Multiple submitters Fanconi anemia
p.Thr475= Multiple submitters hereditary neoplastic syndrome
p.Thr510= Multiple submitters Fanconi anemia
p.Thr529= Multiple submitters Fanconi anemia
p.Thr66= Multiple submitters hereditary neoplastic syndrome
p.Tyr343= Multiple submitters Fanconi anemia
p.Tyr49= Multiple submitters Fanconi anemia
p.Tyr531= Multiple submitters hereditary neoplastic syndrome
p.Val117= Multiple submitters hereditary neoplastic syndrome
p.Val186= Multiple submitters hereditary neoplastic syndrome
p.Val21= Multiple submitters hereditary neoplastic syndrome
p.Val223= Multiple submitters hereditary neoplastic syndrome
p.Val323= Multiple submitters hereditary neoplastic syndrome
p.Val351= Multiple submitters Fanconi anemia
p.Val444= Multiple submitters Fanconi anemia
p.Val446= Multiple submitters Fanconi anemia complementation group C
p.Thr305= Single submitter Fanconi anemia
p.Leu303= Single submitter hereditary neoplastic syndrome
p.Leu302= Single submitter hereditary neoplastic syndrome
p.Ile272= Single submitter hereditary neoplastic syndrome
p.Asp197Glu Single submitter hereditary neoplastic syndrome
c.1072+9G>A Single submitter Fanconi anemia
c.1073-10C>T Single submitter Fanconi anemia
c.1073-13T>C Single submitter
c.1073-15T>G Single submitter Fanconi anemia
c.1073-19T>C Single submitter Fanconi anemia
c.1073-6C>T Single submitter Fanconi anemia
c.1073-9C>T Single submitter Fanconi anemia
c.1154+11A>G Single submitter Fanconi anemia
c.1154+12C>G Single submitter Fanconi anemia
c.1154+12C>T Single submitter Fanconi anemia
c.1154+13_1154+16del Single submitter Fanconi anemia
c.1154+13T>G Single submitter Fanconi anemia
c.1154+14G>A Single submitter Fanconi anemia
c.1154+17C>G Single submitter Fanconi anemia
c.1154+17C>T Single submitter Fanconi anemia
c.1154+19C>T Single submitter Fanconi anemia
c.1154+20T>G Single submitter Fanconi anemia
c.1154+8A>G Single submitter Fanconi anemia
c.1154+9A>G Single submitter Fanconi anemia
c.1155-11C>T Single submitter
c.1155-12C>T Single submitter Fanconi anemia
c.1155-13G>A Single submitter Fanconi anemia
c.1155-18G>C Single submitter Fanconi anemia
c.1155-29A>G Single submitter Fanconi anemia complementation group A
c.1155-7G>A Single submitter Fanconi anemia
c.1155-7G>C Single submitter Fanconi anemia
c.1155-8del Single submitter Fanconi anemia
p.Gly389= Single submitter hereditary neoplastic syndrome
p.Leu396= Single submitter hereditary neoplastic syndrome
p.Ala427= Single submitter hereditary neoplastic syndrome
c.1329+11G>A Single submitter Fanconi anemia
c.1329+15C>T Single submitter Fanconi anemia
c.1329+16C>T Single submitter Fanconi anemia
c.1329+18C>T Single submitter Fanconi anemia
c.1329+207C>T Single submitter
c.1329+226T>C Single submitter
c.1329+255C>T Single submitter
c.1330-12_1330-8del Single submitter Fanconi anemia
c.1330-13T>A Single submitter Fanconi anemia
c.1330-13T>C Single submitter Fanconi anemia
c.1330-19_1330-10del Single submitter Fanconi anemia
c.1330-7T>C Single submitter Fanconi anemia
c.1330-8T>C Single submitter Fanconi anemia
p.Leu486= Single submitter hereditary neoplastic syndrome
p.Leu496= Single submitter Fanconi anemia
p.Pro499= Single submitter hereditary neoplastic syndrome
c.1533+11C>T Single submitter Fanconi anemia
c.1533+12del Single submitter Fanconi anemia
c.1533+17T>C Single submitter Fanconi anemia
c.1533+50G>A Single submitter
c.1533+7C>A Single submitter Fanconi anemia
c.1533+7C>T Single submitter Fanconi anemia
c.1533+8T>C Single submitter Fanconi anemia
c.1533+9C>T Single submitter Fanconi anemia
c.1534-10C>G Single submitter Fanconi anemia
c.1534-10C>T Single submitter Fanconi anemia
c.1534-13G>T Single submitter Fanconi anemia
c.1534-15C>T Single submitter Fanconi anemia
c.1534-16T>C Single submitter
c.1534-17T>C Single submitter Fanconi anemia
c.1534-19T>C Single submitter Fanconi anemia
c.1534-20C>T Single submitter Fanconi anemia
p.Thr515= Single submitter hereditary neoplastic syndrome
p.Leu526= Single submitter Fanconi anemia
c.165+11G>C Single submitter Fanconi anemia complementation group A
c.165+14C>A Single submitter Fanconi anemia
c.165+14C>T Single submitter Fanconi anemia
c.165+15A>G Single submitter Fanconi anemia
c.165+17A>C Single submitter Fanconi anemia
c.165+18A>C Single submitter Fanconi anemia
c.165+18A>G Single submitter Fanconi anemia
c.165+8del Single submitter Fanconi anemia
c.165+9T>A Single submitter Fanconi anemia
c.166-10T>A Single submitter Fanconi anemia
c.166-10T>C Single submitter Fanconi anemia
c.166-18T>C Single submitter
c.166-20A>G Single submitter Fanconi anemia
c.166-4A>G Single submitter hereditary neoplastic syndrome
c.166-6T>C Single submitter Fanconi anemia
c.166-9C>T Single submitter Fanconi anemia
c.250+10A>T Single submitter Fanconi anemia
c.250+12A>G Single submitter
c.250+13A>C Single submitter Fanconi anemia
c.250+15C>T Single submitter Fanconi anemia
c.250+18G>A Single submitter Fanconi anemia
c.250+196AC[9] Single submitter

Uncertain significance 1044

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

c.1534-5T>G Multiple submitters hereditary neoplastic syndrome
p.Phe525Leu Multiple submitters hereditary neoplastic syndrome ⚠
c.166-3C>T Multiple submitters hereditary neoplastic syndrome
c.345+3A>G Multiple submitters hereditary neoplastic syndrome
c.457-3C>T Multiple submitters hereditary neoplastic syndrome
c.521+5del Multiple submitters hereditary neoplastic syndrome
c.521+5G>C Multiple submitters hereditary neoplastic syndrome
c.843+5G>T Multiple submitters Fanconi anemia
c.996+5G>C Multiple submitters hereditary neoplastic syndrome
c.996+6T>C Multiple submitters Fanconi anemia
c.997-3C>T Multiple submitters hereditary neoplastic syndrome
c.-2A>G Multiple submitters hereditary neoplastic syndrome
c.-4C>T Multiple submitters hereditary neoplastic syndrome
c.*450G>A Multiple submitters Fanconi anemia complementation group C
p.Ala124Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala124Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala141Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala176Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala181Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala222Asp Multiple submitters Fanconi anemia ⚠
p.Ala226Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala284Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala289Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala301Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala301Thr Multiple submitters Fanconi anemia ⚠
p.Ala301Val Multiple submitters Fanconi anemia complementation group C ⚠
p.Ala313Pro Multiple submitters hereditary neoplastic syndrome
p.Ala313Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala325Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala336Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala415Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala421Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala455Val Multiple submitters Fanconi anemia ⚠
p.Ala498Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala505Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala516Phe Multiple submitters hereditary neoplastic syndrome
p.Ala516Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala51Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala547Val Multiple submitters Fanconi anemia ⚠
p.Ala72Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala82Thr Multiple submitters Fanconi anemia ⚠
p.Arg174Gln Multiple submitters Fanconi anemia complementation group C ⚠
p.Arg209Cys Multiple submitters Fanconi anemia ⚠
p.Arg245Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg245Gly Multiple submitters hereditary neoplastic syndrome
p.Arg245Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg271Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg271Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg271Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg292Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg292Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg292Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg433His Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg433Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg433Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg436Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg439Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg488Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg535Cys Multiple submitters FANCC-related disorder ⚠
p.Arg542Lys Multiple submitters Fanconi anemia complementation group A ⚠
p.Arg548Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg548Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg555Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg63Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg63Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn164Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn170Ser Multiple submitters Fanconi anemia ⚠
p.Asn267Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp128Gly Multiple submitters Fanconi anemia ⚠
p.Asp195Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp195His Multiple submitters Fanconi anemia complementation group C ⚠
p.Asp197Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp278Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp306Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp306Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp434Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp434Gly Multiple submitters Fanconi anemia ⚠
p.Asp434His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp56Tyr Multiple submitters Fanconi anemia ⚠
p.Asp56Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp84Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys187Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys268Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys268Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys268Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys274Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys93Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys93Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys96Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys96Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln115= Multiple submitters hereditary neoplastic syndrome
p.Gln136Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln13Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln172Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln212Arg Multiple submitters Fanconi anemia ⚠
p.Gln283Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln316His Multiple submitters hereditary neoplastic syndrome
p.Gln32Lys Multiple submitters ⚠
p.Gln332Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln366His Multiple submitters Fanconi anemia ⚠
p.Gln382His Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln3His Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln3Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln40His Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln437Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln437Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln473Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu130Asp Multiple submitters Fanconi anemia complementation group C ⚠
p.Glu218Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu225Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu273Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu310Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu324Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu377Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu409Lys Multiple submitters Fanconi anemia ⚠
p.Glu517Asp Multiple submitters Fanconi anemia ⚠
p.Glu521Ala Multiple submitters Fanconi anemia
p.Glu521Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu521Lys Multiple submitters Fanconi anemia
p.Glu539Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu549Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu54Lys Multiple submitters Fanconi anemia ⚠
p.Glu553Gly Multiple submitters Fanconi anemia ⚠
p.Glu85Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly116Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly116Asp Multiple submitters Fanconi anemia ⚠
p.Gly362Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly385Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly389Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly389Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly401Arg Multiple submitters hereditary neoplastic syndrome
p.Gly472Glu Multiple submitters Fanconi anemia complementation group C ⚠
p.Gly501Asp Multiple submitters Fanconi anemia ⚠
p.Gly501Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly501Val Multiple submitters Fanconi anemia ⚠
p.Gly68Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly68Ser Multiple submitters Fanconi anemia complementation group C ⚠
p.His165Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.His207Leu Multiple submitters Fanconi anemia ⚠
p.His256Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.His287Arg Multiple submitters hereditary neoplastic syndrome
p.His363Arg Multiple submitters Fanconi anemia ⚠
p.His370Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.His37Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.His37Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.His37Pro Multiple submitters Fanconi anemia ⚠
p.His384Arg Multiple submitters Fanconi anemia complementation group C ⚠
p.His384Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.His452_Leu453delinsArgHis Multiple submitters Fanconi anemia complementation group C
p.His502Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.His502Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.His514Tyr Multiple submitters Fanconi anemia ⚠
p.Ile114Leu Multiple submitters Fanconi anemia ⚠
p.Ile191Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile191Thr Multiple submitters Fanconi anemia complementation group C ⚠
p.Ile272Ser Multiple submitters Fanconi anemia ⚠
p.Ile272Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile276Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile276Thr Multiple submitters Fanconi anemia ⚠
p.Ile276Val Multiple submitters Fanconi anemia ⚠
p.Ile315Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile371Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile487Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile523Thr Multiple submitters Fanconi anemia ⚠
p.Ile523Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile89Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile91Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile91Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile98Thr Multiple submitters Fanconi anemia ⚠
p.Leu110Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu110Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu110Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu122Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu125Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu133Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu138Arg Multiple submitters Fanconi anemia complementation group C ⚠
p.Leu155Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu157Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu157Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu166Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu183Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu190Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu199Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu203Phe Multiple submitters hereditary neoplastic syndrome
p.Leu204Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu215Phe Multiple submitters hereditary neoplastic syndrome
p.Leu234Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu234Val Multiple submitters Fanconi anemia complementation group C ⚠
p.Leu247Phe Multiple submitters Fanconi anemia ⚠
p.Leu250Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu250Phe Multiple submitters hereditary neoplastic syndrome
p.Leu257Pro Multiple submitters Fanconi anemia ⚠
p.Leu333Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu337Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu337Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu365Phe Multiple submitters Fanconi anemia ⚠
p.Leu368Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu422Val Multiple submitters Fanconi anemia ⚠
p.Leu453His Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu453Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu454Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu467Val Multiple submitters Fanconi anemia ⚠
p.Leu486Met Multiple submitters Fanconi anemia ⚠
p.Leu486Pro Multiple submitters hereditary neoplastic syndrome
p.Leu491Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu492del Multiple submitters hereditary neoplastic syndrome
p.Leu511Pro Multiple submitters Fanconi anemia ⚠
p.Leu52Phe Multiple submitters Fanconi anemia ⚠
p.Leu530Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu536Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu546Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu70Gln Multiple submitters Fanconi anemia ⚠
p.Leu70Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu8Phe Multiple submitters Fanconi anemia ⚠
p.Leu8Pro Multiple submitters Fanconi anemia ⚠
p.Leu97Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys230Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys231del Multiple submitters hereditary neoplastic syndrome
p.Lys231Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys260Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys277Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys331Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys331Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys47Thr Multiple submitters Fanconi anemia ⚠
p.Lys545Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys545Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys552Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys88Gln Multiple submitters Fanconi anemia ⚠
p.Met153Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Met16Val Multiple submitters Fanconi anemia ⚠
p.Met175Val Multiple submitters Fanconi anemia ⚠
p.Met236Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Met236Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Met297Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Met297Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Met406Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Met443Ile Multiple submitters Fanconi anemia ⚠
p.Met443Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Met456Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Met456Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Met48Thr Multiple submitters Fanconi anemia complementation group C ⚠
p.Phe219Tyr Multiple submitters Fanconi anemia
p.Phe220Cys Multiple submitters Fanconi anemia ⚠
p.Phe275Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Phe341Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Phe341Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Phe400Val Multiple submitters hereditary neoplastic syndrome
p.Phe428Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Phe428del Multiple submitters hereditary neoplastic syndrome
p.Phe525Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Phe64Cys Multiple submitters hereditary neoplastic syndrome
p.Pro102Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro142Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro142His Multiple submitters Fanconi anemia ⚠
p.Pro147Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro147Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro147Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro177Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro177Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro189Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro189Thr Multiple submitters hereditary neoplastic syndrome
p.Pro198Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro198Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro198Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro211Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro217Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro235Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro248Arg Multiple submitters hereditary neoplastic syndrome
p.Pro248Ser Multiple submitters hereditary neoplastic syndrome
p.Pro288Leu Multiple submitters hereditary neoplastic syndrome
p.Pro288Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro342Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro346= Multiple submitters
p.Pro356His Multiple submitters Fanconi anemia ⚠
p.Pro360Arg Multiple submitters Fanconi anemia ⚠
p.Pro360Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro418Asp Multiple submitters hereditary neoplastic syndrome
p.Pro419Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro432Ser Multiple submitters Fanconi anemia
p.Pro482del Multiple submitters Fanconi anemia complementation group C
p.Pro499Ser Multiple submitters Fanconi anemia complementation group A ⚠
p.Pro78Ala Multiple submitters Fanconi anemia ⚠
p.Pro78His Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser119Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser182Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser184Leu Multiple submitters hereditary neoplastic syndrome
p.Ser237Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser249Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser264Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser26Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser279Thr Multiple submitters Fanconi anemia complementation group C ⚠
p.Ser280Pro Multiple submitters Fanconi anemia ⚠
p.Ser330Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser345Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser457Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser459Gly Multiple submitters Fanconi anemia ⚠
p.Ser460Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser460Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser463Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser543Leu Multiple submitters hereditary neoplastic syndrome ⚠