FANCD2 — 2020 ClinVar variants

All ClinVar germline FANCD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 637 flagged for review →

98 Pathogenic · 47 Pathogenic/Likely pathogenic · 119 Likely pathogenic · 88 Conflicting · 105 Benign · 48 Benign/Likely benign · 768 Likely benign · 747 Uncertain significance

Full FANCD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 637

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.

FANCD2 p.Arg1236His Pathogenic/Likely pathogenic Multiple submitters
FANCD2-related disorders
FANCD2 p.Ser126Gly Pathogenic Multiple submitters
Fanconi anemia complementation group D2

Predictors agree, ClinVar conflicts 35

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

FANCD2 p.Ala329Gly Conflicting Single submitter
Fanconi anemia
FANCD2 p.Arg1165Gln Conflicting Single submitter
Fanconi anemia
FANCD2 p.Arg735Gln Conflicting Single submitter
Fanconi anemia complementation group D2
FANCD2 p.Arg779His Conflicting Single submitter
Fanconi anemia
FANCD2 p.Arg997Gln Conflicting Single submitter
hereditary neoplastic syndrome
FANCD2 p.Asp400Glu Conflicting Single submitter
Fanconi anemia
FANCD2 p.Asp588Glu Conflicting Single submitter
Inborn genetic diseases
FANCD2 p.Asp690Asn Conflicting Single submitter
Fanconi anemia
FANCD2 p.Gln1405Leu Conflicting Single submitter
Fanconi anemia complementation group D2
FANCD2 p.Gln26His Conflicting Single submitter
Fanconi anemia
FANCD2 p.Gln640His Conflicting Single submitter
Inborn genetic diseases
FANCD2 p.Gly339Ser Conflicting Single submitter
Inborn genetic diseases
FANCD2 p.Gly901Ser Conflicting Single submitter
Inborn genetic diseases
FANCD2 p.His937Arg Conflicting Single submitter
Fanconi anemia
FANCD2 p.Ile273Val Conflicting Single submitter
Fanconi anemia complementation group D2
FANCD2 p.Ile450Thr Conflicting Single submitter
Fanconi anemia
FANCD2 p.Ile450Val Conflicting Single submitter
Fanconi anemia
FANCD2 p.Ile559Val Conflicting Single submitter
Fanconi anemia
FANCD2 p.Leu1325Met Conflicting Single submitter
ovarian cancer
FANCD2 p.Lys261Met Conflicting Single submitter
Fanconi anemia
FANCD2 p.Lys865Gln Conflicting Single submitter
Inborn genetic diseases
FANCD2 p.Lys871Asn Conflicting Single submitter
Fanconi anemia
FANCD2 p.Met1238Lys Conflicting Single submitter
Fanconi anemia complementation group D2
FANCD2 p.Pro1251Ala Conflicting Single submitter
Fanconi anemia
FANCD2 p.Pro593Ser Conflicting Single submitter
FANCD2-related disorder
FANCD2 p.Pro701Leu Conflicting Single submitter
ovarian cancer
FANCD2 p.Pro727Leu Conflicting Single submitter
Fanconi anemia complementation group D2
FANCD2 p.Ser373Leu Conflicting Single submitter
Fanconi anemia
FANCD2 p.Ser934Cys Conflicting Single submitter
Fanconi anemia
FANCD2 p.Thr1351Met Conflicting Single submitter
Fanconi anemia
FANCD2 p.Thr61Met Conflicting Single submitter
Fanconi anemia
FANCD2 p.Thr914Ile Conflicting Single submitter
Fanconi anemia
FANCD2 p.Val1093Asp Conflicting Single submitter
Hereditary cancer
FANCD2 p.Val1293Ile Conflicting Single submitter
Inborn genetic diseases
FANCD2 p.Val289Ile Conflicting Single submitter
Fanconi anemia

Predictors lean, ClinVar uncertain 531

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 531

FANCD2 p.Ala1074Asp Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Ala129Val Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Ala329Pro Uncertain significance Multiple submitters
Inborn genetic diseases
FANCD2 p.Ala506Thr Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Ala540Ser Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Ala582Val Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Ala586Val Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Arg1097Gln Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Arg1136Gly Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Arg119Cys Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Arg119His Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Arg1236Cys Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Arg1299Cys Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Arg1299His Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Arg174Gln Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Arg253Gln Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Arg315Gln Uncertain significance Multiple submitters
Inborn genetic diseases
FANCD2 p.Arg315Trp Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Arg408Gln Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Arg530Gln Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Arg870Met Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Arg997Trp Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Asn1083Ser Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Asn1176Ser Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Asn1179Asp Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Asn1213Lys Uncertain significance Multiple submitters
Inborn genetic diseases
FANCD2 p.Asn1213Ser Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Asn1388Ser Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Asn601Ser Uncertain significance Multiple submitters
Inborn genetic diseases
FANCD2 p.Asn791Ser Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Asn998Tyr Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Asp12Val Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Asp1393Asn Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Asp604Asn Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Asp645Tyr Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Asp875Tyr Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Cys1130Tyr Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Cys1369Tyr Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Cys342Arg Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Cys342Trp Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Cys342Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
FANCD2 p.Cys657Ser Uncertain significance Multiple submitters
Inborn genetic diseases
FANCD2 p.Gln1259Leu Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Gln308Arg Uncertain significance Multiple submitters
Inborn genetic diseases
FANCD2 p.Gln706Glu Uncertain significance Multiple submitters
Inborn genetic diseases
FANCD2 p.Glu1102Asp Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Glu1250Lys Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Glu1397Lys Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Glu1411Asp Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Glu1433Lys Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Glu362Gly Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Glu807Val Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Glu827Ala Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Glu911Gly Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Glu970Gln Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Gly1043Ser Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Gly128Cys Uncertain significance Multiple submitters
Inborn genetic diseases
FANCD2 p.Gly685Arg Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
FANCD2 p.Gly995Glu Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.His1070Arg Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.His1070Leu Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.His1116Arg Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.His1320Arg Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.His1356Arg Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
FANCD2 p.His556Arg Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.His641Arg Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.His641Tyr Uncertain significance Multiple submitters
FANCD2 p.His745Arg Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.His86Tyr Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Ile1068Thr Uncertain significance Multiple submitters
Inborn genetic diseases
FANCD2 p.Ile1141Val Uncertain significance Multiple submitters
Inborn genetic diseases
FANCD2 p.Ile196Val Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Ile202Thr Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Ile343Val Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Ile47Met Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Ile517Val Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Ile551Thr Uncertain significance Multiple submitters
Inborn genetic diseases
FANCD2 p.Ile573Thr Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Ile58Val Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Ile862Leu Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Ile935Leu Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Ile945Val Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Leu1098Met Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Leu199Val Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Leu235Pro Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Leu249Phe Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Leu259Pro Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Leu270Val Uncertain significance Multiple submitters
Inborn genetic diseases
FANCD2 p.Leu436Met Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Leu456Ile Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Lys1051Glu Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Lys1216Glu Uncertain significance Multiple submitters
Inborn genetic diseases
FANCD2 p.Lys13Arg Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Lys326Glu Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Lys53Gln Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Lys770Arg Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Lys811Asn Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Lys817Asn Uncertain significance Multiple submitters
Inborn genetic diseases
FANCD2 p.Lys910Asn Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Lys913Gln Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Met1139Thr Uncertain significance Multiple submitters
Inborn genetic diseases
FANCD2 p.Met1270Val Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Met1374Val Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Met507Val Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Met774Thr Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Met782Thr Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Phe533Val Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Pro1289Ser Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Pro646Ala Uncertain significance Multiple submitters
Inborn genetic diseases
FANCD2 p.Pro672Leu Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Pro677Leu Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Pro727Ser Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Pro852Arg Uncertain significance Multiple submitters
Inborn genetic diseases
FANCD2 p.Pro852Leu Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Pro852Ser Uncertain significance Multiple submitters
Inborn genetic diseases
FANCD2 p.Pro989Ala Uncertain significance Multiple submitters
FANCD2-related disorder
FANCD2 p.Ser1076Gly Uncertain significance Multiple submitters
Inborn genetic diseases
FANCD2 p.Ser10Pro Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Ser1112Gly Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Ser1175Asn Uncertain significance Multiple submitters
Inborn genetic diseases
FANCD2 p.Ser1175Gly Uncertain significance Multiple submitters
FANCD2 p.Ser1257Leu Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Ser1404Thr Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Ser178Cys Uncertain significance Multiple submitters
Inborn genetic diseases
FANCD2 p.Ser35Pro Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Ser422Cys Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Ser877Arg Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Ser996Gly Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Thr1245Met Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Thr467Met Uncertain significance Multiple submitters
Inborn genetic diseases
FANCD2 p.Thr856Ala Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Thr981Ile Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Tyr389Cys Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Tyr534Cys Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Tyr534Phe Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Tyr632Cys Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Val1016Asp Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Val1050Glu Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Val1115Ile Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Val1140Ile Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Val1290Ile Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Val266Met Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Val41Ala Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Val489Ile Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Val567Ile Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Val652Ile Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Val665Ile Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Val666Met Uncertain significance Multiple submitters
Inborn genetic diseases
FANCD2 p.Val671Gly Uncertain significance Multiple submitters
Inborn genetic diseases
FANCD2 p.Val97Ile Uncertain significance Multiple submitters
Fanconi anemia complementation group D2

Predictors split 69

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

FANCD2 p.Ala799Asp Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Arg1321Pro Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Arg1392Gln Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Arg263Cys Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Arg302Trp Pathogenic/Likely pathogenic Multiple submitters
Fanconi anemia
FANCD2 p.Arg735Trp Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Arg738Ile Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Arg794Gln Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Arg815Gln Pathogenic Multiple submitters
FANCD2-related disorders
FANCD2 p.Asp188Val Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Asp494Tyr Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Asp519Glu Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Asp519His Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Cys1380Arg Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Gln470His Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Ile412Thr Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Ile517Thr Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Leu686Pro Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Met1239Ile Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Phe154Ser Uncertain significance Multiple submitters
Inborn genetic diseases
FANCD2 p.Phe462Leu Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Phe635Leu Uncertain significance Multiple submitters
Fanconi anemia complementation group D2
FANCD2 p.Phe787Leu Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Ser1316Arg Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Ser621Asn Uncertain significance Multiple submitters
Fanconi anemia
FANCD2 p.Arg1165Trp Uncertain significance Single submitter
Fanconi anemia
FANCD2 p.Arg1273Leu Uncertain significance Single submitter
Fanconi anemia complementation group D2
FANCD2 p.Arg1392Trp Uncertain significance Single submitter
Fanconi anemia
FANCD2 p.Arg263His Uncertain significance Single submitter
Fanconi anemia
FANCD2 p.Arg560Gly Uncertain significance Single submitter
Fanconi anemia complementation group D2
FANCD2 p.Arg926Gln Uncertain significance Single submitter
Fanconi anemia
FANCD2 p.Arg926Leu Uncertain significance Single submitter
Fanconi anemia complementation group D2
FANCD2 p.Asn1391His Uncertain significance Single submitter
Fanconi anemia
FANCD2 p.Asp184Ala Uncertain significance Single submitter
Fanconi anemia
FANCD2 p.Asp184Tyr Uncertain significance Single submitter
Fanconi anemia
FANCD2 p.Asp519Asn Uncertain significance Single submitter
Fanconi anemia
FANCD2 p.Asp554Gly Uncertain significance Single submitter
FANCD2 p.Cys1309Arg Uncertain significance Single submitter
Fanconi anemia complementation group D2
FANCD2 p.Cys758Ser Conflicting Single submitter
Fanconi anemia complementation group D2
FANCD2 p.Cys758Tyr Conflicting Single submitter
ovarian cancer
FANCD2 p.Glu1202Gly Uncertain significance Single submitter
Fanconi anemia
FANCD2 p.Glu964Lys Uncertain significance Single submitter
Fanconi anemia complementation group D2
FANCD2 p.His1070Pro Uncertain significance Single submitter
Fanconi anemia
FANCD2 p.His1339Pro Uncertain significance Single submitter
Fanconi anemia
FANCD2 p.Ile1399Thr Uncertain significance Single submitter
Fanconi anemia
FANCD2 p.Ile576Thr Uncertain significance Single submitter
Fanconi anemia
FANCD2 p.Ile93Met Uncertain significance Single submitter
Fanconi anemia
FANCD2 p.Leu1087Arg Uncertain significance Single submitter
Fanconi anemia complementation group D2
FANCD2 p.Leu1291Arg Uncertain significance Single submitter
Fanconi anemia
FANCD2 p.Leu1341Arg Uncertain significance Single submitter
Fanconi anemia
FANCD2 p.Leu683Pro Uncertain significance Single submitter
FANCD2 p.Leu700Pro Uncertain significance Single submitter
Inborn genetic diseases
FANCD2 p.Lys4Glu Uncertain significance Single submitter
Fanconi anemia complementation group D2
FANCD2 p.Lys571Met Uncertain significance Single submitter
Fanconi anemia
FANCD2 p.Met1238Ile Uncertain significance Single submitter
Inborn genetic diseases
FANCD2 p.Phe1231Ser Uncertain significance Single submitter
Fanconi anemia
FANCD2 p.Phe1331Leu Uncertain significance Single submitter
FANCD2 p.Phe48Leu Conflicting Single submitter
ovarian cancer
FANCD2 p.Phe96Leu Uncertain significance Single submitter
Fanconi anemia complementation group D2
FANCD2 p.Pro158Ser Uncertain significance Single submitter
Inborn genetic diseases
FANCD2 p.Pro759Arg Uncertain significance Single submitter
Inborn genetic diseases
FANCD2 p.Ser1220Thr Uncertain significance Single submitter
Fanconi anemia complementation group D2
FANCD2 p.Ser1316Asn Uncertain significance Single submitter
Fanconi anemia
FANCD2 p.Ser1401Phe Uncertain significance Single submitter
Fanconi anemia
FANCD2 p.Ser483Arg Uncertain significance Single submitter
Fanconi anemia
FANCD2 p.Ser612Phe Uncertain significance Single submitter
Fanconi anemia
FANCD2 p.Ser784Phe Conflicting Single submitter
Fanconi anemia
FANCD2 p.Val1140Gly Conflicting Single submitter
ovarian cancer
FANCD2 p.Trp1268Gly Uncertain significance No assertion criteria
Fanconi anemia complementation group D2

All FANCD2 variants

Pathogenic 98

c.1948-16T>G Multiple submitters Fanconi anemia complementation group D2
p.Arg815Gln Multiple submitters FANCD2-related disorders ⚠
p.Asn1151fs Multiple submitters Fanconi anemia complementation group D2
p.Gln1129Ter Multiple submitters Fanconi anemia
p.Gln320Ter Multiple submitters Fanconi anemia
p.Glu888fs Multiple submitters Fanconi anemia
p.Lys13fs Multiple submitters Fanconi anemia complementation group D2
p.Ser126Gly Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Trp1167Ter Multiple submitters Fanconi anemia
p.Trp1268Ter Multiple submitters Fanconi anemia complementation group D2
c.2977-2A>G Single submitter Fanconi anemia complementation group D2
c.3777+1G>T Single submitter Fanconi anemia complementation group D2
c.696-1G>A Single submitter Fanconi anemia
c.696-2A>G Single submitter Fanconi anemia
c.-33-?_1098+?del Single submitter Fanconi anemia
p.Ala1009fs Single submitter Fanconi anemia
p.Arg1007Ter Single submitter Fanconi anemia
p.Arg1370fs Single submitter Fanconi anemia
p.Arg401delinsPhePheValTer Single submitter Fanconi anemia
p.Arg401fs Single submitter Fanconi anemia complementation group D2
p.Cys1015fs Single submitter Fanconi anemia
p.Cys1380Ter Single submitter Fanconi anemia
p.Gln1035Ter Single submitter Fanconi anemia
p.Gln1053fs Single submitter Fanconi anemia
p.Gln1063fs Single submitter Fanconi anemia
p.Gln1084Ter Single submitter Fanconi anemia
p.Gln1181Ter Single submitter Fanconi anemia
p.Gln121Ter Single submitter Fanconi anemia
p.Gln1355Ter Single submitter Fanconi anemia
p.Gln146Ter Single submitter Fanconi anemia
p.Gln198Ter Single submitter Fanconi anemia
p.Gln223Ter Single submitter Fanconi anemia
p.Gln308Ter Single submitter
p.Gln335Ter Single submitter Fanconi anemia
p.Gln418fs Single submitter Fanconi anemia complementation group D2
p.Gln527fs Single submitter Fanconi anemia
p.Gln552Ter Single submitter Fanconi anemia
p.Gln609Ter Single submitter Fanconi anemia
p.Gln615fs Single submitter Fanconi anemia
p.Gln706Ter Single submitter Fanconi anemia
p.Gln722Ter Single submitter Fanconi anemia
p.Gln802Ter Single submitter Fanconi anemia
p.Glu778fs Single submitter Fanconi anemia
p.Glu94fs Single submitter Fanconi anemia
p.Glu95Ter Single submitter Fanconi anemia
p.Glu964fs Single submitter Fanconi anemia
p.Gly713fs Single submitter Fanconi anemia
p.Gly721fs Single submitter Fanconi anemia complementation group D2
p.His424_Tyr425insTer Single submitter hereditary breast carcinoma
p.His556fs Single submitter Fanconi anemia complementation group D2
p.His937fs Single submitter Fanconi anemia
p.His951_Thr952insTer Single submitter Fanconi anemia
p.Ile1012fs Single submitter Fanconi anemia
p.Ile360fs Single submitter Fanconi anemia
p.Ile368fs Single submitter Fanconi anemia
p.Ile639fs Single submitter Fanconi anemia
p.Leu1091fs Single submitter Fanconi anemia
p.Leu115_Ser116insTer Single submitter Fanconi anemia
p.Leu1333Ter Single submitter Fanconi anemia
p.Leu135fs Single submitter Fanconi anemia
p.Leu153Ser Single submitter Fanconi anemia
p.Leu259fs Single submitter Fanconi anemia
p.Leu563_Ser564insTer Single submitter Fanconi anemia
p.Leu79fs Single submitter Fanconi anemia
p.Leu822Ter Single submitter Inborn genetic diseases
p.Leu946Ter Single submitter Fanconi anemia
p.Lys1099Ter Single submitter Fanconi anemia
p.Lys34fs Single submitter Fanconi anemia
p.Lys809Ter Single submitter Fanconi anemia
p.Phe1231fs Single submitter Fanconi anemia
p.Phe1301fs Single submitter Fanconi anemia
p.Phe284fs Single submitter Fanconi anemia
p.Phe704fs Single submitter Fanconi anemia
p.Pro1081fs Single submitter Fanconi anemia
p.Pro1168fs Single submitter Fanconi anemia
p.Pro1251fs Single submitter Fanconi anemia
p.Ser102_Tyr103insTer Single submitter Fanconi anemia
p.Ser15fs Single submitter Fanconi anemia
p.Ser232fs Single submitter Fanconi anemia
p.Ser373fs Single submitter Fanconi anemia
p.Ser483fs Single submitter Inborn genetic diseases
p.Ser525fs Single submitter Fanconi anemia
p.Ser720fs Single submitter Fanconi anemia
p.Thr1225_Leu1226insTer Single submitter Fanconi anemia
p.Thr242fs Single submitter Fanconi anemia
p.Thr716fs Single submitter Fanconi anemia
p.Thr952fs Single submitter Fanconi anemia
p.Trp1167fs Single submitter Fanconi anemia
p.Val932fs Single submitter Fanconi anemia
c.1414_1545del No assertion criteria Fanconi anemia complementation group D2
c.1414-69_1545+258del No assertion criteria Fanconi anemia complementation group D2
c.206-2A>T No assertion criteria Fanconi anemia complementation group D2
c.696-2A>T No assertion criteria Fanconi anemia complementation group D2
p.Asp947fs No assertion criteria Fanconi anemia complementation group D2
p.Ile1200fs No assertion criteria Fanconi anemia complementation group D2
p.Leu231Arg No assertion criteria Fanconi anemia complementation group D2
p.Ser973fs No assertion criteria
p.Trp364Ter No assertion criteria Fanconi anemia complementation group D2

Pathogenic/Likely pathogenic 47

c.1279-1G>A Multiple submitters Fanconi anemia complementation group D2
c.1948-6C>A Multiple submitters Fanconi anemia
c.2609_2613del Multiple submitters Fanconi anemia complementation group D2
c.2715+1G>A Multiple submitters Fanconi anemia
c.3107_3108del Multiple submitters Fanconi anemia complementation group D2
c.3888+2T>G Multiple submitters Fanconi anemia
c.491+1G>A Multiple submitters Fanconi anemia
c.990-1G>A Multiple submitters Fanconi anemia complementation group D2
p.Ala629fs Multiple submitters Fanconi anemia
p.Arg1097Ter Multiple submitters Fanconi anemia
p.Arg1236His Multiple submitters FANCD2-related disorders ⚠
p.Arg1273Ter Multiple submitters Fanconi anemia
p.Arg174Ter Multiple submitters Fanconi anemia complementation group D2
p.Arg185fs Multiple submitters Fanconi anemia
p.Arg253Ter Multiple submitters Fanconi anemia
p.Arg302Trp Multiple submitters Fanconi anemia ⚠
p.Arg530Ter Multiple submitters Fanconi anemia complementation group D2
p.Arg794Ter Multiple submitters Fanconi anemia complementation group D2
p.Arg926Ter Multiple submitters Fanconi anemia complementation group D2
p.Asn920Ter Multiple submitters Fanconi anemia
p.Gln1080Ter Multiple submitters Fanconi anemia
p.Gln1100fs Multiple submitters Fanconi anemia
p.Gln1161Ter Multiple submitters Fanconi anemia
p.Gln1308Ter Multiple submitters Fanconi anemia
p.Gln340Ter Multiple submitters Fanconi anemia
p.Gln562Ter Multiple submitters Fanconi anemia
p.Gln623Ter Multiple submitters Fanconi anemia
p.Gln626Ter Multiple submitters Fanconi anemia
p.Gln718Ter Multiple submitters Fanconi anemia
p.Glu169Ter Multiple submitters Fanconi anemia complementation group D2
p.Glu949Ter Multiple submitters Fanconi anemia
p.His654fs Multiple submitters Fanconi anemia complementation group D2
p.Ile945_Leu946insTer Multiple submitters Fanconi anemia complementation group D2
p.Leu1364fs Multiple submitters Fanconi anemia complementation group D2
p.Leu785fs Multiple submitters Fanconi anemia
p.Leu816Ter Multiple submitters Fanconi anemia
p.Lys1099fs Multiple submitters Fanconi anemia complementation group D2
p.Lys31fs Multiple submitters Fanconi anemia complementation group D2
p.Lys33fs Multiple submitters Fanconi anemia complementation group D2
p.Lys77fs Multiple submitters Fanconi anemia complementation group D2
p.Pro526fs Multiple submitters Fanconi anemia
p.Ser64fs Multiple submitters Fanconi anemia
p.Thr914fs Multiple submitters Fanconi anemia
p.Tyr1267fs Multiple submitters Fanconi anemia
p.Tyr356Ter Multiple submitters Fanconi anemia
p.Tyr684Ter Multiple submitters Fanconi anemia
p.Tyr829Ter Multiple submitters Fanconi anemia complementation group D2

Likely pathogenic 119

c.1279-2A>G Multiple submitters Fanconi anemia complementation group D2
c.206-1G>T Multiple submitters Fanconi anemia
c.2169-1G>C Multiple submitters Fanconi anemia
c.2269+1G>A Multiple submitters Fanconi anemia complementation group D2
c.3224+1G>T Multiple submitters Fanconi anemia complementation group D2
c.3467-2A>G Multiple submitters Fanconi anemia
c.3560+1G>A Multiple submitters Fanconi anemia
c.377+1G>A Multiple submitters FANCD2-related disorders
c.3889-2A>G Multiple submitters Fanconi anemia complementation group D2
c.64+2T>G Multiple submitters Fanconi anemia complementation group D2
c.696-121C>G Multiple submitters Fanconi anemia
p.Asn1032fs Multiple submitters Fanconi anemia complementation group D2
p.Gln1113Ter Multiple submitters Fanconi anemia complementation group D2
p.Gln76fs Multiple submitters Fanconi anemia complementation group D2
p.Gly1101fs Multiple submitters Fanconi anemia complementation group D2
p.Ser1127fs Multiple submitters Fanconi anemia complementation group D2
p.Thr395fs Multiple submitters Fanconi anemia
c.1098+2T>A Single submitter Fanconi anemia
c.1134+1G>A Single submitter Fanconi anemia
c.1135-1G>C Single submitter Fanconi anemia complementation group D2
c.1278+1G>T Single submitter Fanconi anemia
c.1278+6T>C Single submitter Fanconi anemia complementation group D2
c.1279-2A>C Single submitter Fanconi anemia complementation group D2
c.1545+1G>T Single submitter Fanconi anemia complementation group D2
c.1546-1G>A Single submitter Fanconi anemia
c.1656+1G>A Single submitter Fanconi anemia
c.1656+1G>T Single submitter
c.1766+1G>A Single submitter Fanconi anemia
c.1947+1G>A Single submitter Fanconi anemia
c.1948-2A>G Single submitter Fanconi anemia complementation group D2
c.2021+1G>T Single submitter Fanconi anemia complementation group D2
c.205+1G>A Single submitter Fanconi anemia
c.205+2T>A Single submitter Fanconi anemia complementation group D2
c.2168_2168+1delinsT Single submitter Fanconi anemia
c.2168+2T>C Single submitter Fanconi anemia
c.2270-1G>A Single submitter Fanconi anemia complementation group D2
c.2270-1G>C Single submitter Fanconi anemia
c.2386-2A>G Single submitter Fanconi anemia
c.2495-2A>G Single submitter Fanconi anemia
c.273+2T>C Single submitter Fanconi anemia
c.2860-2A>G Single submitter Fanconi anemia complementation group D2
c.3224+1G>C Single submitter Fanconi anemia
c.3225-6_3232del Single submitter Fanconi anemia complementation group D2
c.3335+1G>A Single submitter Fanconi anemia complementation group D2
c.3466+1G>A Single submitter Fanconi anemia complementation group D2
c.3466+1G>C Single submitter Fanconi anemia
c.3561-1del Single submitter Fanconi anemia
c.3561-1G>A Single submitter Fanconi anemia
c.3749_3777+789del Single submitter Fanconi anemia
c.377+2T>C Single submitter Fanconi anemia complementation group D2
c.3778-1G>A Single submitter Fanconi anemia complementation group D2
c.378-1G>C Single submitter Fanconi anemia complementation group D2
c.3849+1G>A Single submitter Fanconi anemia
c.3849+1G>T Single submitter Fanconi anemia
c.3889-1G>A Single submitter Fanconi anemia
c.3963_3963+1inv Single submitter Fanconi anemia
c.3963+1G>A Single submitter Fanconi anemia
c.4038+2T>G Single submitter Fanconi anemia
c.4039-2A>G Single submitter Fanconi anemia
c.4186-2A>G Single submitter Fanconi anemia complementation group D2
c.4281+7_4281+8del Single submitter Fanconi anemia complementation group D2
c.571-2A>G Single submitter Fanconi anemia
c.64+1_64+2del Single submitter Fanconi anemia
c.65-1G>T Single submitter Fanconi anemia
c.65-2A>G Single submitter Fanconi anemia complementation group D2
c.694_695+14del Single submitter Fanconi anemia
c.695+1G>A Single submitter Fanconi anemia
c.695+2T>G Single submitter Fanconi anemia complementation group D2
c.888+1G>A Single submitter Fanconi anemia
c.990-2A>G Single submitter Fanconi anemia complementation group D2
p.Ala1199_Ile1200insTer Single submitter Fanconi anemia
p.Arg1318Ter Single submitter Fanconi anemia complementation group D2
p.Asn1085fs Single submitter Fanconi anemia complementation group D2
p.Asp221fs Single submitter Fanconi anemia complementation group D2
p.Asp348fs Single submitter Fanconi anemia complementation group D2
p.Cys1024fs Single submitter Fanconi anemia complementation group D2
p.Cys893fs Single submitter Fanconi anemia complementation group D2
p.Gln1105Ter Single submitter Fanconi anemia complementation group D2
p.Gln1349Ter Single submitter Fanconi anemia complementation group D2
p.Gln223fs Single submitter Fanconi anemia complementation group D2
p.Gln264Ter Single submitter
p.Gln415Ter Single submitter Fanconi anemia complementation group D2
p.Gln418Ter Single submitter Fanconi anemia
p.Gln440Ter Single submitter Fanconi anemia complementation group D2
p.Gln470Ter Single submitter Fanconi anemia complementation group D2
p.Gln544_Asn545insTer Single submitter Fanconi anemia complementation group D2
p.Gln597fs Single submitter Fanconi anemia complementation group D2
p.Gln640fs Single submitter
p.Gln65Ter Single submitter Fanconi anemia complementation group D2
p.Gln802fs Single submitter Fanconi anemia complementation group D2
p.Glu101fs Single submitter Fanconi anemia complementation group D2
p.Glu1153Ter Single submitter FANCD2-related disorders
p.Glu237fs Single submitter Fanconi anemia complementation group D2
p.Glu622Ter Single submitter Fanconi anemia complementation group D2
p.Glu63fs Single submitter Fanconi anemia complementation group D2
p.Glu927Ter Single submitter Fanconi anemia complementation group D2
p.His86fs Single submitter FANCD2-related disorders
p.Ile282fs Single submitter Fanconi anemia complementation group D2
p.Leu1367Ter Single submitter Fanconi anemia complementation group D2
p.Leu153Ter Single submitter Fanconi anemia complementation group D2
p.Leu457Pro Single submitter Fanconi anemia complementation group D2
p.Leu649fs Single submitter Fanconi anemia complementation group D2
p.Leu826fs Single submitter Fanconi anemia complementation group D2
p.Lys378Ter Single submitter Fanconi anemia complementation group D2
p.Lys571fs Single submitter FANCD2-related disorders
p.Lys865fs Single submitter Fanconi anemia complementation group D2
p.Lys873fs Single submitter Fanconi anemia complementation group D2
p.Ser130fs Single submitter Fanconi anemia complementation group D2
p.Ser250Ter Single submitter FANCD2-related disorders
p.Ser352fs Single submitter Fanconi anemia complementation group D2
p.Ser619fs Single submitter FANCD2-related disorder
p.Ser8Ter Single submitter Fanconi anemia complementation group D2
p.Thr833fs Single submitter Fanconi anemia complementation group D2
p.Trp1075Ter Single submitter Fanconi anemia complementation group D2
p.Tyr103Ter Single submitter Fanconi anemia complementation group D2
p.Tyr570Ter Single submitter Fanconi anemia complementation group D2
p.Val1052fs Single submitter Fanconi anemia complementation group D2
p.Glu14fs No assertion criteria Fanconi anemia complementation group D2
p.Phe1073fs No assertion criteria Fanconi anemia complementation group D2

Conflicting classifications of pathogenicity 88

c.1278+3_1278+6del Single submitter Fanconi anemia complementation group D2
c.1278+5G>T Single submitter Fanconi anemia complementation group D2
c.1413+3A>G Single submitter Fanconi anemia complementation group D2
c.1545+9T>C Single submitter Fanconi anemia complementation group D2
c.1546-8T>C Single submitter Fanconi anemia complementation group D2
c.1656+14T>A Single submitter Fanconi anemia complementation group D2
c.1657-5T>G Single submitter Fanconi anemia complementation group D2
c.1948-7C>T Single submitter Fanconi anemia complementation group D2
c.2022-5C>T Single submitter Fanconi anemia
c.2605+1G>A Single submitter Fetal anomalies with a likely genetic cause
c.2605+2dup Single submitter Fanconi anemia
c.2606-7A>G Single submitter Fanconi anemia
c.2716-9T>A Single submitter Fanconi anemia complementation group D2
c.2976+5G>A Single submitter Fanconi anemia
c.2977-13G>T Single submitter Fanconi anemia
c.3106-13T>G Single submitter Fanconi anemia
c.3224+8T>A Single submitter Fanconi anemia
c.3466+10C>T Single submitter Fanconi anemia
c.3963+8C>T Single submitter hereditary breast ovarian cancer syndrome
c.4186-13C>T Single submitter Fanconi anemia complementation group D2
c.4186-5T>C Single submitter Fanconi anemia
c.491+10G>A Single submitter Fanconi anemia
c.696-11A>G Single submitter Fanconi anemia
p.Ala329Gly Single submitter Fanconi anemia ⚠
p.Ala372= Single submitter Fanconi anemia
p.Arg1165Gln Single submitter Fanconi anemia ⚠
p.Arg1236= Single submitter Fanconi anemia
p.Arg408Ter Single submitter Fanconi anemia
p.Arg735Gln Single submitter Fanconi anemia complementation group D2 ⚠
p.Arg779His Single submitter Fanconi anemia ⚠
p.Arg997Gln Single submitter hereditary neoplastic syndrome ⚠
p.Asn1379= Single submitter Fanconi anemia
p.Asp184= Single submitter Fanconi anemia complementation group D2
p.Asp400Glu Single submitter Fanconi anemia ⚠
p.Asp588Glu Single submitter Inborn genetic diseases ⚠
p.Asp690Asn Single submitter Fanconi anemia ⚠
p.Cys758Ser Single submitter Fanconi anemia complementation group D2 ⚠
p.Cys758Tyr Single submitter ovarian cancer ⚠
p.Gln1405Leu Single submitter Fanconi anemia complementation group D2 ⚠
p.Gln26His Single submitter Fanconi anemia ⚠
p.Gln640His Single submitter Inborn genetic diseases ⚠
p.Gln802= Single submitter Fanconi anemia
p.Glu11= Single submitter Fanconi anemia complementation group D2
p.Gly339Ser Single submitter Inborn genetic diseases ⚠
p.Gly901Ser Single submitter Inborn genetic diseases ⚠
p.His224= Single submitter Fanconi anemia
p.His377Arg Single submitter Fanconi anemia
p.His480= Single submitter hereditary breast ovarian cancer syndrome
p.His937Arg Single submitter Fanconi anemia ⚠
p.Ile142= Single submitter Fanconi anemia
p.Ile273Val Single submitter Fanconi anemia complementation group D2 ⚠
p.Ile450Thr Single submitter Fanconi anemia ⚠
p.Ile450Val Single submitter Fanconi anemia ⚠
p.Ile559Val Single submitter Fanconi anemia ⚠
p.Leu1186= Single submitter Fanconi anemia
p.Leu1325Met Single submitter ovarian cancer ⚠
p.Leu446= Single submitter Fanconi anemia
p.Lys261Met Single submitter Fanconi anemia ⚠
p.Lys865Gln Single submitter Inborn genetic diseases ⚠
p.Lys871Asn Single submitter Fanconi anemia ⚠
p.Met1238Lys Single submitter Fanconi anemia complementation group D2 ⚠
p.Phe48Leu Single submitter ovarian cancer ⚠
p.Pro1251Ala Single submitter Fanconi anemia ⚠
p.Pro593Ser Single submitter FANCD2-related disorder ⚠
p.Pro672= Single submitter Fanconi anemia
p.Pro701Leu Single submitter ovarian cancer ⚠
p.Pro727= Single submitter Fanconi anemia
p.Pro727Leu Single submitter Fanconi anemia complementation group D2 ⚠
p.Pro806= Single submitter Fanconi anemia
p.Ser1095= Single submitter Fanconi anemia
p.Ser288= Single submitter Fanconi anemia
p.Ser373Leu Single submitter Fanconi anemia ⚠
p.Ser668= Single submitter Fanconi anemia
p.Ser784Phe Single submitter Fanconi anemia ⚠
p.Ser934Cys Single submitter Fanconi anemia ⚠
p.Thr1351Met Single submitter Fanconi anemia ⚠
p.Thr61Met Single submitter Fanconi anemia ⚠
p.Thr914Ile Single submitter Fanconi anemia ⚠
p.Thr942= Single submitter Fanconi anemia
p.Tyr1117= Single submitter Fanconi anemia complementation group D2
p.Tyr356= Single submitter Fanconi anemia
p.Val1093Asp Single submitter Hereditary cancer ⚠
p.Val1140Gly Single submitter ovarian cancer ⚠
p.Val1293Ile Single submitter Inborn genetic diseases ⚠
p.Val177= Single submitter Fanconi anemia
p.Val289Ile Single submitter Fanconi anemia ⚠
p.Val427Phe Single submitter Fanconi anemia
p.Val610= Single submitter Fanconi anemia

Benign 105

c.1098+75C>T Multiple submitters
c.1134+76G>T Multiple submitters
c.1135-248T>C Multiple submitters
c.1413+38A>C Multiple submitters hereditary breast ovarian cancer syndrome
c.1414-23T>C Multiple submitters hereditary breast ovarian cancer syndrome
c.1948-193A>G Multiple submitters
c.2022-27A>G Multiple submitters hereditary breast ovarian cancer syndrome
c.205+9T>G Multiple submitters Fanconi anemia
c.2269+37A>G Multiple submitters hereditary breast ovarian cancer syndrome
c.2270-28G>T Multiple submitters Fanconi anemia complementation group D2
c.2494+100A>G Multiple submitters
c.2606-135T>C Multiple submitters
c.2860-150G>A Multiple submitters
c.2860-162C>A Multiple submitters
c.2976+36T>C Multiple submitters hereditary breast ovarian cancer syndrome
c.3336-183A>G Multiple submitters
c.377+164G>A Multiple submitters
c.3777+83_3777+86del Multiple submitters Fanconi anemia complementation group A
c.3850-203C>T Multiple submitters
c.3963+103C>T Multiple submitters
c.3963+109G>A Multiple submitters
c.4185+33T>C Multiple submitters hereditary breast ovarian cancer syndrome
c.4281+172G>A Multiple submitters hereditary breast ovarian cancer syndrome
c.4281+197A>G Multiple submitters hereditary breast ovarian cancer syndrome
c.4281+566T>G Multiple submitters Fanconi anemia complementation group D2
c.4281+673G>A Multiple submitters Fanconi anemia complementation group D2
c.4281+685C>T Multiple submitters Fanconi anemia complementation group D2
c.438+106T>C Multiple submitters
c.438+58A>C Multiple submitters
c.571-31G>A Multiple submitters hereditary breast ovarian cancer syndrome
c.64+12G>C Multiple submitters hereditary neoplastic syndrome
c.990-133G>T Multiple submitters
c.990-38C>G Multiple submitters hereditary breast ovarian cancer syndrome
p.Asn904= Multiple submitters hereditary breast ovarian cancer syndrome
p.Ile172Met Multiple submitters hereditary neoplastic syndrome
p.Leu1366= Multiple submitters hereditary breast ovarian cancer syndrome
p.Phe708= Multiple submitters hereditary breast ovarian cancer syndrome
p.Tyr425= Multiple submitters Fanconi anemia complementation group D2
p.Val379= Multiple submitters hereditary breast ovarian cancer syndrome
c.1134+268G>T Single submitter
c.1135-253A>G Single submitter
c.1135-305G>C Single submitter
c.1135-64T>G Single submitter
c.1278+36C>A Single submitter
c.1279-131T>A Single submitter
c.1545+210C>G Single submitter
c.1546-247G>A Single submitter
c.1656+38dup Single submitter
c.1657-112dup Single submitter
c.1657-113_1657-112dup Single submitter
c.1657-326C>T Single submitter
c.1766+290T>A Single submitter
c.1767-137A>G Single submitter
c.1767-15del Single submitter
c.1767-260G>A Single submitter
c.1827+139C>T Single submitter
c.1827+15del Single submitter Fanconi anemia
c.1827+15dup Single submitter Fanconi anemia
c.1827+291A>T Single submitter
c.1828-326G>A Single submitter
c.205+257C>T Single submitter
c.206-127_206-124dup Single submitter
c.206-162A>G Single submitter
c.206-170T>C Single submitter
c.206-246del Single submitter
c.2169-154G>A Single submitter
c.2385+108C>T Single submitter
c.2386-148G>C Single submitter
c.2386-175A>G Single submitter
c.2494+95C>A Single submitter Fanconi anemia complementation group A
c.2494+97T>A Single submitter Fanconi anemia complementation group A
c.2494+98C>A Single submitter Fanconi anemia complementation group A
c.2606-11del Single submitter Fanconi anemia
c.273+12del Single submitter Fanconi anemia
c.273+12dup Single submitter Fanconi anemia
c.274-14del Single submitter Fanconi anemia
c.2859+184G>T Single submitter
c.2977-209T>C Single submitter
c.3466+275dup Single submitter
c.3467-155G>A Single submitter
c.3467-298C>G Single submitter
c.3777+84_3777+86del Single submitter
c.3778-155G>A Single submitter
c.3778-291C>T Single submitter
c.3849+190del Single submitter
c.3849+190dup Single submitter
c.4185+237C>T Single submitter
c.4186-147G>C Single submitter
c.4186-289G>A Single submitter
c.4282-109del Single submitter
c.439-180A>G Single submitter
c.491+266G>C Single submitter
c.492-241T>C Single submitter
c.65-263T>A Single submitter
c.695+205_695+207del Single submitter
c.695+206_695+207del Single submitter
c.696-342G>A Single submitter
c.783+146_783+147del Single submitter
c.783+147dup Single submitter
c.783+151_783+152insG Single submitter
c.783+206dup Single submitter
c.784-308G>A Single submitter
c.-34+271_-34+280del Single submitter
c.*140del Single submitter
c.1278+1del No assertion criteria FANCD2-related disorder

Benign/Likely benign 48

c.1135-25G>A Multiple submitters Fanconi anemia complementation group A
c.1414-9C>T Multiple submitters Fanconi anemia
c.1546-58A>T Multiple submitters hereditary breast ovarian cancer syndrome
c.2269+12A>G Multiple submitters Fanconi anemia complementation group D2
c.2715+113C>G Multiple submitters hereditary breast ovarian cancer syndrome
c.3105+15C>T Multiple submitters hereditary breast ovarian cancer syndrome
c.3466+34_3466+36dup Multiple submitters
c.3466+35_3466+36del Multiple submitters
c.3466+35_3466+36dup Multiple submitters
c.3466+36del Multiple submitters
c.3466+36dup Multiple submitters
c.3560+20C>T Multiple submitters Fanconi anemia complementation group D2
c.378-6_378-5del Multiple submitters Fanconi anemia
c.3849+13A>G Multiple submitters hereditary breast ovarian cancer syndrome
c.3850-15C>T Multiple submitters Fanconi anemia complementation group D2
c.4038+8G>A Multiple submitters Fanconi anemia
c.4281+115C>A Multiple submitters Fanconi anemia
c.4281+270A>G Multiple submitters Fanconi anemia complementation group D2
c.439-16A>G Multiple submitters hereditary breast ovarian cancer syndrome
c.695+16G>C Multiple submitters hereditary breast ovarian cancer syndrome
c.696-138C>T Multiple submitters
c.784-19C>T Multiple submitters hereditary breast ovarian cancer syndrome
c.-6G>C Multiple submitters hereditary neoplastic syndrome
c.*3C>T Multiple submitters
p.Ala1149Val Multiple submitters Fanconi anemia
p.Arg328Gln Multiple submitters Fanconi anemia
p.Asn503= Multiple submitters hereditary breast ovarian cancer syndrome
p.Asn545Ser Multiple submitters Fanconi anemia
p.Gln1402= Multiple submitters Fanconi anemia
p.Gln623Pro Multiple submitters hereditary neoplastic syndrome
p.Gln65His Multiple submitters hereditary neoplastic syndrome
p.Gln823= Multiple submitters hereditary breast ovarian cancer syndrome
p.Gln959= Multiple submitters hereditary breast ovarian cancer syndrome
p.Gly901Val Multiple submitters Fanconi anemia
p.Leu446Val Multiple submitters Fanconi anemia
p.Leu456Arg Multiple submitters Fanconi anemia
p.Leu918= Multiple submitters Fanconi anemia complementation group D2
p.Lys828= Multiple submitters hereditary breast ovarian cancer syndrome
p.Phe386Val Multiple submitters ovarian cancer
p.Pro701= Multiple submitters Fanconi anemia
p.Pro714Leu Multiple submitters hereditary breast ovarian cancer syndrome
p.Ser390= Multiple submitters hereditary breast ovarian cancer syndrome
p.Thr193Ala Multiple submitters hereditary neoplastic syndrome
p.Thr393= Multiple submitters Fanconi anemia
p.Thr467= Multiple submitters Fanconi anemia complementation group D2
p.Thr611= Multiple submitters Fanconi anemia
p.Thr908Ile Multiple submitters Fanconi anemia
p.Val374= Multiple submitters hereditary breast ovarian cancer syndrome

Likely benign 768

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

c.1098+27A>G Multiple submitters Fanconi anemia complementation group D2
c.1414-4A>G Multiple submitters Fanconi anemia
c.1657-15A>G Multiple submitters Fanconi anemia
c.1766+19A>G Multiple submitters Fanconi anemia
c.2022-4G>A Multiple submitters Fanconi anemia complementation group D2
c.206-20C>A Multiple submitters hereditary breast ovarian cancer syndrome
c.2269+15C>T Multiple submitters Fanconi anemia
c.2606-40A>T Multiple submitters
c.2716-15G>A Multiple submitters Fanconi anemia
c.273+14C>T Multiple submitters Fanconi anemia
c.3225-78T>G Multiple submitters
c.3335+83G>T Multiple submitters
c.3336-258G>A Multiple submitters
c.3466+9C>G Multiple submitters Fanconi anemia
c.3560+42dup Multiple submitters hereditary breast ovarian cancer syndrome
c.3684-10C>T Multiple submitters Fanconi anemia
c.3684-22G>A Multiple submitters hereditary breast ovarian cancer syndrome
c.377+17T>C Multiple submitters hereditary breast ovarian cancer syndrome
c.378-5del Multiple submitters Fanconi anemia complementation group D2
c.378-9T>A Multiple submitters Fanconi anemia
c.3850-17G>T Multiple submitters Fanconi anemia complementation group D2
c.3963+11A>G Multiple submitters Fanconi anemia
c.3963+155C>T Multiple submitters
c.3964-67A>G Multiple submitters hereditary breast ovarian cancer syndrome
c.4281+111A>G Multiple submitters Fanconi anemia
c.4281+42C>T Multiple submitters Fanconi anemia
c.4281+81G>A Multiple submitters Fanconi anemia
c.438+9_438+10del Multiple submitters Fanconi anemia
c.439-18C>A Multiple submitters Fanconi anemia
c.571-19A>T Multiple submitters Fanconi anemia complementation group D2
c.64+7A>G Multiple submitters Fanconi anemia
c.65-18A>C Multiple submitters Fanconi anemia
c.695+102A>G Multiple submitters
c.695+10C>T Multiple submitters Fanconi anemia
c.695+19A>G Multiple submitters Fanconi anemia
c.696-18T>G Multiple submitters Fanconi anemia complementation group D2
c.784-9A>G Multiple submitters Fanconi anemia
c.888+49A>G Multiple submitters
c.989+73A>G Multiple submitters
p.Ala1147= Multiple submitters Fanconi anemia
p.Ala1218= Multiple submitters Fanconi anemia
p.Ala203= Multiple submitters Fanconi anemia
p.Arg1352= Multiple submitters Fanconi anemia
p.Asp1432= Multiple submitters hereditary neoplastic syndrome
p.Asp381= Multiple submitters Fanconi anemia complementation group A
p.Asp490= Multiple submitters Fanconi anemia
p.Glu1153= Multiple submitters Fanconi anemia complementation group D2
p.Gly1343= Multiple submitters Fanconi anemia
p.His1042= Multiple submitters Fanconi anemia
p.His556= Multiple submitters Fanconi anemia
p.Ile695= Multiple submitters Fanconi anemia
p.Leu157= Multiple submitters Fanconi anemia
p.Leu180= Multiple submitters Fanconi anemia
p.Leu241= Multiple submitters Fanconi anemia
p.Leu260= Multiple submitters Fanconi anemia
p.Leu301= Multiple submitters Fanconi anemia
p.Leu323= Multiple submitters Fanconi anemia
p.Leu683= Multiple submitters Fanconi anemia
p.Leu686= Multiple submitters Fanconi anemia complementation group D2
p.Leu7= Multiple submitters Fanconi anemia
p.Leu755= Multiple submitters Fanconi anemia
p.Leu917= Multiple submitters Fanconi anemia complementation group D2
p.Phe676= Multiple submitters Fanconi anemia
p.Pro714= Multiple submitters Fanconi anemia
p.Pro732= Multiple submitters Fanconi anemia
p.Pro962= Multiple submitters Fanconi anemia
p.Ser55= Multiple submitters Fanconi anemia
p.Thr1245= Multiple submitters Fanconi anemia
p.Thr538= Multiple submitters Fanconi anemia complementation group D2
p.Thr580= Multiple submitters Fanconi anemia
p.Thr61= Multiple submitters Fanconi anemia
p.Thr814= Multiple submitters Fanconi anemia
p.Thr82= Multiple submitters Fanconi anemia
p.Tyr1055= Multiple submitters Fanconi anemia
p.Tyr689= Multiple submitters Fanconi anemia
p.Val473= Multiple submitters Fanconi anemia
c.1098+16C>T Single submitter Fanconi anemia
c.1098+19T>C Single submitter Fanconi anemia
c.1098+20_1098+23del Single submitter Fanconi anemia
c.1099-19CT[2] Single submitter
c.1099-6T>G Single submitter Fanconi anemia
c.1134+10A>C Single submitter Fanconi anemia
c.1134+10A>G Single submitter Fanconi anemia
c.1134+17A>G Single submitter
c.1135-10T>C Single submitter
c.1135-11A>G Single submitter
c.1135-6C>A Single submitter Fanconi anemia
c.1413+13A>G Single submitter
c.1413+8G>A Single submitter Fanconi anemia
c.1414-8C>G Single submitter
c.1546-266T>G Single submitter
c.1546-6C>T Single submitter Fanconi anemia
c.1656+10A>C Single submitter Fanconi anemia
c.1656+12T>C Single submitter
c.1656+16T>C Single submitter
c.1656+37T>C Single submitter hereditary breast ovarian cancer syndrome
c.1656+7G>A Single submitter Fanconi anemia
c.1657-12_1657-10del Single submitter Fanconi anemia
c.1657-12A>T Single submitter Fanconi anemia
c.1657-16C>G Single submitter Fanconi anemia
c.1657-18T>G Single submitter Fanconi anemia
c.1657-219G>A Single submitter
c.1657-7A>G Single submitter Fanconi anemia
c.1657-9T>A Single submitter Fanconi anemia
c.1766+13A>G Single submitter Fanconi anemia
c.1766+15T>G Single submitter Fanconi anemia
c.1766+53_1766+56del Single submitter
c.1766+7G>A Single submitter Fanconi anemia
c.1766+7G>T Single submitter Fanconi anemia
c.1766+8T>C Single submitter Fanconi anemia
c.1766+9G>A Single submitter Fanconi anemia
c.1767-10T>C Single submitter Fanconi anemia
c.1767-7T>C Single submitter Fanconi anemia
c.1767-8G>C Single submitter Fanconi anemia
c.1827+17CTTT[2] Single submitter
c.1827+301G>T Single submitter
c.1828-11C>T Single submitter Fanconi anemia
c.1828-12T>G Single submitter Fanconi anemia
c.1828-16T>A Single submitter Fanconi anemia
c.1828-18T>C Single submitter Fanconi anemia
c.1828-6C>T Single submitter Fanconi anemia
c.1828-8T>C Single submitter Fanconi anemia
c.1947+14T>G Single submitter Fanconi anemia
c.1947+7C>T Single submitter Fanconi anemia
c.1947+9A>G Single submitter Fanconi anemia
c.1948-15G>C Single submitter Fanconi anemia
c.1948-19G>A Single submitter Fanconi anemia
c.1948-19G>T Single submitter
c.1948-20T>C Single submitter Fanconi anemia
c.1948-21T>C Single submitter
c.1948-22TTTG[2] Single submitter Fanconi anemia
c.2021+11T>A Single submitter Fanconi anemia
c.2021+15C>T Single submitter Fanconi anemia
c.2022-4G>T Single submitter Fanconi anemia
c.2022-6C>G Single submitter Fanconi anemia
c.2022-6C>T Single submitter Fanconi anemia
c.205+15T>C Single submitter Fanconi anemia
c.205+16A>G Single submitter Fanconi anemia
c.206-14T>C Single submitter Fanconi anemia
c.206-15C>T Single submitter Fanconi anemia
c.206-18C>G Single submitter Fanconi anemia
c.206-20C>T Single submitter Fanconi anemia
c.206-28G>A Single submitter hereditary breast ovarian cancer syndrome
c.206-4A>G Single submitter Fanconi anemia
c.206-5C>T Single submitter Fanconi anemia
c.206-6G>A Single submitter Fanconi anemia
c.206-7T>C Single submitter Fanconi anemia
c.206-9T>C Single submitter Fanconi anemia
c.2168+11T>A Single submitter
c.2168+229C>T Single submitter
c.2168+247C>G Single submitter
c.2168+9del Single submitter Fanconi anemia
c.2169-11C>T Single submitter Fanconi anemia
c.2169-15A>G Single submitter Fanconi anemia
c.2169-17T>A Single submitter Fanconi anemia
c.2169-19A>T Single submitter Fanconi anemia
c.2169-6_2169-4del Single submitter Fanconi anemia
c.2169-9C>T Single submitter Fanconi anemia
c.2269+11_2269+12del Single submitter Fanconi anemia
c.2269+16A>G Single submitter Fanconi anemia
c.2269+16A>T Single submitter Fanconi anemia
c.2269+20G>C Single submitter Fanconi anemia
c.2269+9T>G Single submitter Fanconi anemia
c.2270-7C>T Single submitter Fanconi anemia
c.2270-9C>G Single submitter Fanconi anemia
c.2385+18G>A Single submitter
c.2385+203C>T Single submitter
c.2385+7A>G Single submitter Fanconi anemia
c.2385+8G>T Single submitter Fanconi anemia
c.2386-11G>A Single submitter Fanconi anemia
c.2386-15A>G Single submitter Fanconi anemia
c.2386-5T>C Single submitter Fanconi anemia
c.2386-9A>G Single submitter Fanconi anemia
c.2494+10G>A Single submitter Fanconi anemia
c.2494+11T>A Single submitter Fanconi anemia
c.2494+13T>C Single submitter Fanconi anemia
c.2494+18T>G Single submitter Fanconi anemia
c.2494+8A>G Single submitter Fanconi anemia
c.2495-13C>T Single submitter Fanconi anemia
c.2495-14G>A Single submitter Fanconi anemia
c.2495-16C>T Single submitter Fanconi anemia
c.2495-18G>C Single submitter Fanconi anemia
c.2495-201C>T Single submitter
c.2495-4T>G Single submitter Fanconi anemia
c.2495-7G>A Single submitter Fanconi anemia
c.2605+12C>A Single submitter Fanconi anemia
c.2605+17C>T Single submitter
c.2605+20C>G Single submitter Fanconi anemia
c.2605+25_2605+29del Single submitter Fanconi anemia
c.2605+8T>C Single submitter Fanconi anemia
c.2605+9G>A Single submitter Fanconi anemia
c.2606-10A>C Single submitter Fanconi anemia
c.2606-12_2606-11del Single submitter Fanconi anemia
c.2606-15T>C Single submitter Fanconi anemia
c.2606-16C>G Single submitter Fanconi anemia
c.2606-18C>G Single submitter Fanconi anemia
c.2606-18C>T Single submitter Fanconi anemia
c.2715+108C>T Single submitter hereditary breast ovarian cancer syndrome
c.2715+10T>G Single submitter Fanconi anemia
c.2715+11G>A Single submitter Fanconi anemia
c.2715+11G>T Single submitter Fanconi anemia
c.2715+16del Single submitter Fanconi anemia
c.2715+17T>G Single submitter Fanconi anemia
c.2716-12A>G Single submitter Fanconi anemia
c.2716-13G>A Single submitter Fanconi anemia
c.2716-15G>C Single submitter Fanconi anemia
c.2716-9T>G Single submitter Fanconi anemia
c.273+15C>T Single submitter Fanconi anemia
c.273+18G>A Single submitter Fanconi anemia
c.274-11del Single submitter Fanconi anemia
c.274-6_274-4del Single submitter Fanconi anemia
c.274-6C>A Single submitter Fanconi anemia
c.274-9C>A Single submitter Fanconi anemia
c.274-9C>G Single submitter Fanconi anemia
c.274-9C>T Single submitter Fanconi anemia
c.2859+11G>A Single submitter Fanconi anemia
c.2859+11G>T Single submitter Fanconi anemia
c.2859+12G>A Single submitter Fanconi anemia
c.2859+14T>G Single submitter Fanconi anemia
c.2859+19T>C Single submitter Fanconi anemia
c.2859+244TAC[4] Single submitter
c.2860-10C>T Single submitter Fanconi anemia
c.2860-11C>T Single submitter Fanconi anemia
c.2860-335G>A Single submitter
c.2860-4A>C Single submitter Fanconi anemia
c.2860-5G>A Single submitter Fanconi anemia
c.2860-8T>C Single submitter Fanconi anemia
c.2976+11G>A Single submitter Fanconi anemia
c.2976+12C>T Single submitter Fanconi anemia
c.2976+15A>T Single submitter Fanconi anemia
c.2976+17G>A Single submitter Fanconi anemia
c.2976+19A>G Single submitter Fanconi anemia
c.2976+19A>T Single submitter Fanconi anemia
c.2976+20T>C Single submitter Fanconi anemia
c.2976+20T>G Single submitter Fanconi anemia
c.2976+23_2976+35del Single submitter Fanconi anemia
c.2976+7G>A Single submitter Fanconi anemia
c.2976+7G>T Single submitter Fanconi anemia
c.2977-12C>T Single submitter Fanconi anemia
c.2977-17C>G Single submitter Fanconi anemia
c.2977-17C>T Single submitter Fanconi anemia
c.2977-18A>C Single submitter Fanconi anemia
c.2977-269C>T Single submitter
c.2977-39C>T Single submitter
c.2977-4A>G Single submitter Fanconi anemia
c.2977-7A>G Single submitter Fanconi anemia
c.3105+12A>G Single submitter Fanconi anemia
c.3105+9C>A Single submitter
c.3106-13T>C Single submitter Fanconi anemia
c.3106-14A>C Single submitter Fanconi anemia
c.3106-14A>G Single submitter Fanconi anemia
c.3106-15C>A Single submitter Fanconi anemia
c.3106-15C>G Single submitter Fanconi anemia
c.3106-15C>T Single submitter Fanconi anemia
c.3106-19A>T Single submitter Fanconi anemia
c.3224+10T>C Single submitter Fanconi anemia
c.3224+11G>A Single submitter Fanconi anemia
c.3224+13G>C Single submitter Fanconi anemia
c.3224+16G>C Single submitter Fanconi anemia
c.3224+16G>T Single submitter Fanconi anemia
c.3224+7A>G Single submitter Fanconi anemia
c.3224+8T>C Single submitter Fanconi anemia
c.3225-10A>G Single submitter Fanconi anemia
c.3225-13T>C Single submitter Fanconi anemia
c.3225-14C>G Single submitter Fanconi anemia
c.3225-16A>T Single submitter Fanconi anemia
c.3225-17T>C Single submitter Fanconi anemia
c.3225-4T>G Single submitter Fanconi anemia
c.3225-6_3225-3del Single submitter Fanconi anemia
c.3225-9C>T Single submitter Fanconi anemia
c.3335+11A>G Single submitter Fanconi anemia
c.3335+13T>C Single submitter Fanconi anemia
c.3335+16A>G Single submitter Fanconi anemia
c.3335+19G>C Single submitter Fanconi anemia
c.3335+8A>G Single submitter Fanconi anemia
c.3336-10C>G Single submitter Fanconi anemia
c.3336-4dup Single submitter Fanconi anemia
c.3336-8C>T Single submitter Fanconi anemia
c.3466+32T>G Single submitter hereditary breast ovarian cancer syndrome
c.3466+34_3466+36del Single submitter
c.3466+9C>T Single submitter Fanconi anemia
c.3467-11T>G Single submitter Fanconi anemia
c.3467-12_3467-10del Single submitter Fanconi anemia
c.3467-12C>G Single submitter Fanconi anemia
c.3467-8T>G Single submitter Fanconi anemia
c.3560+11T>C Single submitter Fanconi anemia
c.3560+13G>A Single submitter Fanconi anemia
c.3561-13A>G Single submitter Fanconi anemia
c.3561-26G>A Single submitter hereditary breast ovarian cancer syndrome
c.3561-9T>C Single submitter Fanconi anemia
c.3683+12C>A Single submitter Fanconi anemia
c.3683+17C>T Single submitter Fanconi anemia
c.3683+18T>C Single submitter Fanconi anemia
c.3683+19C>T Single submitter Fanconi anemia
c.3683+20C>T Single submitter Fanconi anemia
c.3684-12C>G Single submitter Fanconi anemia
c.3684-14T>C Single submitter Fanconi anemia
c.3684-18G>C Single submitter Fanconi anemia
c.3684-20A>C Single submitter Fanconi anemia
c.3684-5T>C Single submitter Fanconi anemia

Uncertain significance 747

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

c.1098+4A>G Multiple submitters Fanconi anemia
c.1099-107G>T Multiple submitters
c.1279-3A>T Multiple submitters Fanconi anemia complementation group D2
c.1766+3A>G Multiple submitters Fanconi anemia
c.274-12A>G Multiple submitters Fanconi anemia complementation group D2
c.2859+13C>G Multiple submitters Fanconi anemia
c.3777+5G>A Multiple submitters Fanconi anemia complementation group D2
c.4281+107T>C Multiple submitters Inborn genetic diseases
c.4281+121C>T Multiple submitters Fanconi anemia
c.4281+22_4281+29del Multiple submitters Fanconi anemia
c.4281+37G>A Multiple submitters Fanconi anemia
c.4281+38G>T Multiple submitters Fanconi anemia complementation group D2
c.4281+69G>A Multiple submitters Fanconi anemia
c.571-3C>T Multiple submitters Fanconi anemia complementation group D2
c.784-3T>G Multiple submitters Fanconi anemia
p.Ala1074Asp Multiple submitters Fanconi anemia ⚠
p.Ala129Val Multiple submitters Fanconi anemia ⚠
p.Ala329Pro Multiple submitters Inborn genetic diseases ⚠
p.Ala506Thr Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Ala540Ser Multiple submitters Fanconi anemia ⚠
p.Ala582Val Multiple submitters Fanconi anemia ⚠
p.Ala586Val Multiple submitters Fanconi anemia ⚠
p.Ala799Asp Multiple submitters Fanconi anemia ⚠
p.Arg1097Gln Multiple submitters Fanconi anemia ⚠
p.Arg1136Gly Multiple submitters Fanconi anemia ⚠
p.Arg119Cys Multiple submitters Fanconi anemia ⚠
p.Arg119His Multiple submitters Fanconi anemia ⚠
p.Arg1236Cys Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Arg1299Cys Multiple submitters Fanconi anemia ⚠
p.Arg1299His Multiple submitters Fanconi anemia ⚠
p.Arg1321Pro Multiple submitters Fanconi anemia ⚠
p.Arg1392Gln Multiple submitters Fanconi anemia ⚠
p.Arg174Gln Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Arg253Gln Multiple submitters Fanconi anemia ⚠
p.Arg263Cys Multiple submitters Fanconi anemia ⚠
p.Arg315Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg315Trp Multiple submitters Fanconi anemia ⚠
p.Arg408Gln Multiple submitters Fanconi anemia ⚠
p.Arg530Gln Multiple submitters Fanconi anemia ⚠
p.Arg735Trp Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Arg738Ile Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Arg794Gln Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Arg870Met Multiple submitters Fanconi anemia ⚠
p.Arg997Trp Multiple submitters Fanconi anemia ⚠
p.Asn1083Ser Multiple submitters Fanconi anemia ⚠
p.Asn1176Ser Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Asn1179Asp Multiple submitters Fanconi anemia ⚠
p.Asn1213Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn1213Ser Multiple submitters Fanconi anemia ⚠
p.Asn1388Ser Multiple submitters Fanconi anemia ⚠
p.Asn601Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn791Ser Multiple submitters Fanconi anemia ⚠
p.Asn998Tyr Multiple submitters Fanconi anemia ⚠
p.Asp12Val Multiple submitters Fanconi anemia ⚠
p.Asp1393Asn Multiple submitters Fanconi anemia ⚠
p.Asp188Val Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Asp494Tyr Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Asp519Glu Multiple submitters Fanconi anemia ⚠
p.Asp519His Multiple submitters Fanconi anemia ⚠
p.Asp604Asn Multiple submitters Fanconi anemia ⚠
p.Asp645Tyr Multiple submitters Fanconi anemia ⚠
p.Asp875Tyr Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Cys1130Tyr Multiple submitters Fanconi anemia ⚠
p.Cys1369Tyr Multiple submitters Fanconi anemia ⚠
p.Cys1380Arg Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Cys342Arg Multiple submitters Fanconi anemia ⚠
p.Cys342Trp Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Cys342Tyr Multiple submitters Inborn genetic diseases ⚠
p.Cys657Ser Multiple submitters Inborn genetic diseases ⚠
p.Cys783Tyr Multiple submitters Fanconi anemia
p.Gln1259Leu Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Gln308Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln470His Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Gln706Glu Multiple submitters Inborn genetic diseases ⚠
p.Glu1102Asp Multiple submitters Fanconi anemia ⚠
p.Glu1250Lys Multiple submitters Fanconi anemia ⚠
p.Glu1397Lys Multiple submitters Fanconi anemia ⚠
p.Glu1411Asp Multiple submitters Fanconi anemia ⚠
p.Glu1433Lys Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Glu362Gly Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Glu807Val Multiple submitters Fanconi anemia ⚠
p.Glu827Ala Multiple submitters Fanconi anemia ⚠
p.Glu911Gly Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Glu970Gln Multiple submitters Fanconi anemia ⚠
p.Gly1043Ser Multiple submitters Fanconi anemia ⚠
p.Gly128Cys Multiple submitters Inborn genetic diseases ⚠
p.Gly685Arg Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Gly995Glu Multiple submitters Fanconi anemia complementation group D2 ⚠
p.His1070Arg Multiple submitters Fanconi anemia ⚠
p.His1070Leu Multiple submitters Fanconi anemia ⚠
p.His1116Arg Multiple submitters Fanconi anemia ⚠
p.His1320Arg Multiple submitters Fanconi anemia ⚠
p.His1356Arg Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.His556Arg Multiple submitters Fanconi anemia complementation group D2 ⚠
p.His641Arg Multiple submitters Fanconi anemia ⚠
p.His641Tyr Multiple submitters ⚠
p.His745Arg Multiple submitters Fanconi anemia complementation group D2 ⚠
p.His86Tyr Multiple submitters Fanconi anemia ⚠
p.Ile1068Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile1141Val Multiple submitters Inborn genetic diseases ⚠
p.Ile1203Phe Multiple submitters Inborn genetic diseases
p.Ile196Val Multiple submitters Fanconi anemia ⚠
p.Ile202Thr Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Ile343Val Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Ile412Thr Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Ile47Met Multiple submitters Fanconi anemia ⚠
p.Ile517Thr Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Ile517Val Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Ile551Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile573Thr Multiple submitters Fanconi anemia ⚠
p.Ile58Val Multiple submitters Fanconi anemia ⚠
p.Ile862Leu Multiple submitters Fanconi anemia ⚠
p.Ile935Leu Multiple submitters Fanconi anemia ⚠
p.Ile945Val Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Leu1098Met Multiple submitters Fanconi anemia ⚠
p.Leu199Val Multiple submitters Fanconi anemia ⚠
p.Leu235Pro Multiple submitters Fanconi anemia ⚠
p.Leu249Phe Multiple submitters Fanconi anemia ⚠
p.Leu259Pro Multiple submitters Fanconi anemia ⚠
p.Leu270Val Multiple submitters Inborn genetic diseases ⚠
p.Leu346del Multiple submitters Fanconi anemia
p.Leu436Met Multiple submitters Fanconi anemia ⚠
p.Leu456Ile Multiple submitters Fanconi anemia ⚠
p.Leu686Pro Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Leu700del Multiple submitters Fanconi anemia
p.Leu785Phe Multiple submitters Fanconi anemia
p.Lys1051Glu Multiple submitters Fanconi anemia ⚠
p.Lys1216Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys13Arg Multiple submitters Fanconi anemia ⚠
p.Lys326Glu Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Lys53Gln Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Lys770Arg Multiple submitters Fanconi anemia ⚠
p.Lys811Asn Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Lys817Asn Multiple submitters Inborn genetic diseases ⚠
p.Lys910Asn Multiple submitters Fanconi anemia ⚠
p.Lys913Gln Multiple submitters Fanconi anemia ⚠
p.Met1139Thr Multiple submitters Inborn genetic diseases ⚠
p.Met1239Ile Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Met1270Val Multiple submitters Fanconi anemia ⚠
p.Met1374Val Multiple submitters Fanconi anemia ⚠
p.Met507Val Multiple submitters Fanconi anemia ⚠
p.Met581Thr Multiple submitters Fanconi anemia
p.Met774Thr Multiple submitters Fanconi anemia ⚠
p.Met782Thr Multiple submitters Fanconi anemia ⚠
p.Phe154Ser Multiple submitters Inborn genetic diseases ⚠
p.Phe462Leu Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Phe533Val Multiple submitters Fanconi anemia ⚠
p.Phe635Leu Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Phe787Leu Multiple submitters Fanconi anemia ⚠
p.Pro1289Ser Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Pro646Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro672Leu Multiple submitters Fanconi anemia ⚠
p.Pro677Leu Multiple submitters Fanconi anemia ⚠
p.Pro727Ser Multiple submitters Fanconi anemia ⚠
p.Pro852Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro852Leu Multiple submitters Fanconi anemia ⚠
p.Pro852Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro989Ala Multiple submitters FANCD2-related disorder ⚠
p.Ser1076Gly Multiple submitters Inborn genetic diseases ⚠
p.Ser10Pro Multiple submitters Fanconi anemia ⚠
p.Ser1112Gly Multiple submitters Fanconi anemia ⚠
p.Ser1175Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser1175Gly Multiple submitters ⚠
p.Ser1257Leu Multiple submitters Fanconi anemia ⚠
p.Ser1316Arg Multiple submitters Fanconi anemia ⚠
p.Ser1404Thr Multiple submitters Fanconi anemia ⚠
p.Ser1412_Glu1413del Multiple submitters cleft palate
p.Ser178Cys Multiple submitters Inborn genetic diseases ⚠
p.Ser35Pro Multiple submitters Fanconi anemia ⚠
p.Ser422Cys Multiple submitters Fanconi anemia ⚠
p.Ser621Asn Multiple submitters Fanconi anemia ⚠
p.Ser877Arg Multiple submitters Fanconi anemia ⚠
p.Ser996Gly Multiple submitters Fanconi anemia ⚠
p.Thr1245Met Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Thr467Met Multiple submitters Inborn genetic diseases ⚠
p.Thr479Ile Multiple submitters Inborn genetic diseases
p.Thr856Ala Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Thr981Ile Multiple submitters Fanconi anemia ⚠
p.Tyr1189His Multiple submitters Fanconi anemia
p.Tyr389Cys Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Tyr534Cys Multiple submitters Fanconi anemia ⚠
p.Tyr534Phe Multiple submitters Fanconi anemia ⚠
p.Tyr632Cys Multiple submitters Fanconi anemia ⚠
p.Val1016Asp Multiple submitters Fanconi anemia ⚠
p.Val1050Glu Multiple submitters Fanconi anemia ⚠
p.Val1115Ile Multiple submitters Fanconi anemia ⚠
p.Val1140Ile Multiple submitters Fanconi anemia ⚠
p.Val1290Ile Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Val266Met Multiple submitters Fanconi anemia ⚠
p.Val41Ala Multiple submitters Fanconi anemia ⚠
p.Val489Ile Multiple submitters Fanconi anemia ⚠
p.Val567Ile Multiple submitters Fanconi anemia ⚠
p.Val652Ile Multiple submitters Fanconi anemia ⚠
p.Val665Ile Multiple submitters Fanconi anemia complementation group D2 ⚠
p.Val666Met Multiple submitters Inborn genetic diseases ⚠
p.Val671Gly Multiple submitters Inborn genetic diseases ⚠
p.Val97Ile Multiple submitters Fanconi anemia complementation group D2 ⚠
c.1098+6A>T Single submitter Fanconi anemia complementation group D2
c.1278+2dup Single submitter Fanconi anemia
c.1413+2T>A Single submitter Fanconi anemia
c.1766+4C>G Single submitter Fanconi anemia
c.1766+4C>T Single submitter Fanconi anemia
c.1766+6C>T Single submitter
c.1947+11T>C Single submitter
c.1947+3A>G Single submitter Fanconi anemia
c.1947+6G>A Single submitter Fanconi anemia
c.1948-9T>A Single submitter
c.2021+5G>A Single submitter Fanconi anemia
c.2022-5C>A Single submitter Fanconi anemia
c.205+4_205+6del Single submitter Fanconi anemia
c.2168+3C>G Single submitter Fanconi anemia complementation group D2
c.2168+5G>C Single submitter Fanconi anemia
c.2269+6G>A Single submitter
c.2495-3C>A Single submitter Fanconi anemia
c.2606-9A>G Single submitter Fanconi anemia complementation group D2
c.274-5T>A Single submitter Fanconi anemia complementation group D2
c.2860-6T>A Single submitter Fanconi anemia
c.2977-14T>A Single submitter Fanconi anemia
c.3335+3G>A Single submitter Fanconi anemia
c.3466+5T>C Single submitter Fanconi anemia
c.3466+6G>A Single submitter Fanconi anemia
c.3467-3C>A Single submitter Fanconi anemia
c.3561-4G>T Single submitter Fanconi anemia
c.3683+5G>C Single submitter Fanconi anemia
c.377+6G>A Single submitter Fanconi anemia
c.3777+3_3777+6del Single submitter Fanconi anemia
c.3778-12T>G Single submitter Fanconi anemia complementation group D2
c.378-3C>T Single submitter Fanconi anemia
c.3849+12_3849+13delinsAG Single submitter Fanconi anemia
c.3849+5G>A Single submitter Fanconi anemia complementation group D2
c.3888+5G>A Single submitter Fanconi anemia
c.3889-5_3889-3del Single submitter Fanconi anemia
c.3964-13T>G Single submitter Fanconi anemia
c.4038+3A>G Single submitter Fanconi anemia
c.4185+5G>T Single submitter Fanconi anemia
c.4281+116C>T Single submitter Inborn genetic diseases
c.4281+16C>T Single submitter Fanconi anemia
c.4281+179C>T Single submitter Fanconi anemia complementation group D2
c.4281+19C>T Single submitter Fanconi anemia
c.4281+1del Single submitter Fanconi anemia
c.4281+257C>T Single submitter Fanconi anemia complementation group D2
c.4281+328G>T Single submitter Fanconi anemia complementation group D2
c.4281+398G>C Single submitter Fanconi anemia complementation group D2
c.4281+517A>C Single submitter Fanconi anemia complementation group D2
c.4281+525A>G Single submitter Fanconi anemia complementation group D2
c.4281+534G>A Single submitter Fanconi anemia complementation group D2
c.4281+543C>T Single submitter Fanconi anemia complementation group D2
c.4281+562C>A Single submitter Fanconi anemia complementation group D2
c.4281+597C>T Single submitter Fanconi anemia complementation group D2
c.4281+65G>A Single submitter Fanconi anemia
c.4281+71G>A Single submitter Fanconi anemia
c.4281+77C>T Single submitter Fanconi anemia
c.4281+823A>G Single submitter Fanconi anemia complementation group D2
c.4281+91G>A Single submitter Fanconi anemia
c.439-3T>C Single submitter Fanconi anemia
c.571-3C>G Single submitter Fanconi anemia
c.65-3C>T Single submitter Fanconi anemia
c.695+5A>G Single submitter Fanconi anemia
c.695+6_695+11del Single submitter Fanconi anemia
c.783+3A>G Single submitter Fanconi anemia
c.783+3A>T Single submitter Fanconi anemia
c.783+6A>G Single submitter Fanconi anemia
c.888+3A>G Single submitter Fanconi anemia
c.989+6G>A Single submitter Fanconi anemia
c.990-6T>G Single submitter Fanconi anemia
c.-33-13G>A Single submitter Fanconi anemia complementation group D2
p.Ala1149Gly Single submitter Fanconi anemia complementation group D2 ⚠
p.Ala1184Asp Single submitter Fanconi anemia ⚠
p.Ala125Asp Single submitter Fanconi anemia complementation group D2 ⚠
p.Ala1425Asp Single submitter ⚠
p.Ala203Pro Single submitter Fanconi anemia complementation group D2 ⚠
p.Ala20Thr Single submitter Fanconi anemia ⚠
p.Ala225Thr Single submitter Fanconi anemia ⚠
p.Ala291Thr Single submitter Fanconi anemia complementation group D2 ⚠
p.Ala318Thr Single submitter Fanconi anemia ⚠
p.Ala353Val Single submitter Fanconi anemia ⚠
p.Ala363Gly Single submitter Fanconi anemia ⚠
p.Ala363Thr Single submitter Fanconi anemia ⚠
p.Ala367Ser Single submitter Fanconi anemia ⚠
p.Ala578Thr Single submitter Fanconi anemia
p.Ala627Val Single submitter Fanconi anemia ⚠
p.Ala629Pro Single submitter ⚠
p.Ala636Thr Single submitter Fanconi anemia ⚠
p.Ala696Val Single submitter Fanconi anemia ⚠
p.Ala74Val Single submitter Fanconi anemia ⚠
p.Ala954Ser Single submitter Fanconi anemia ⚠
p.Ala985Gly Single submitter ⚠
p.Arg1007Ile Single submitter Fanconi anemia ⚠
p.Arg1165Trp Single submitter Fanconi anemia ⚠
p.Arg119Pro Single submitter Fanconi anemia ⚠
p.Arg1228Thr Single submitter Fanconi anemia complementation group D2
p.Arg1236Leu Single submitter Fanconi anemia
p.Arg1236Ser Single submitter Fanconi anemia
p.Arg1273Leu Single submitter Fanconi anemia complementation group D2 ⚠
p.Arg1321Gln Single submitter Fanconi anemia ⚠
p.Arg1392Trp Single submitter Fanconi anemia ⚠
p.Arg24Gly Single submitter Fanconi anemia ⚠
p.Arg263His Single submitter Fanconi anemia ⚠
p.Arg302Gln Single submitter Fanconi anemia
p.Arg302Pro Single submitter Fanconi anemia ⚠