FANCI — 2351 ClinVar variants

All ClinVar germline FANCI variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 817 flagged for review →

85 Pathogenic · 55 Pathogenic/Likely pathogenic · 131 Likely pathogenic · 73 Conflicting · 100 Benign · 39 Benign/Likely benign · 888 Likely benign · 980 Uncertain significance

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

⚑ Evidence disagreements 817

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

Predictors vs ClinVar 1

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

FANCI p.His858Tyr Pathogenic No assertion criteria
Fanconi anemia complementation group I

Predictors agree, ClinVar conflicts 14

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

FANCI p.Arg1019Trp Conflicting Single submitter
Fanconi anemia
FANCI p.Asn836Ser Conflicting Single submitter
Inborn genetic diseases
FANCI p.Cys156Tyr Conflicting Single submitter
Fanconi anemia
FANCI p.Gly1188Arg Conflicting Single submitter
Fanconi anemia
FANCI p.Gly53Ala Conflicting Single submitter
Fanconi anemia
FANCI p.Gly655Arg Conflicting Single submitter
Fanconi anemia
FANCI p.His568Arg Conflicting Single submitter
Fanconi anemia complementation group I
FANCI p.Ile275Thr Conflicting Single submitter
Fanconi anemia
FANCI p.Leu619Gln Conflicting Single submitter
Fanconi anemia complementation group I
FANCI p.Met525Val Conflicting Single submitter
Fanconi anemia
FANCI p.Ser1038Leu Conflicting Single submitter
Inborn genetic diseases
FANCI p.Ser371Gly Conflicting Single submitter
Fanconi anemia complementation group I
FANCI p.Thr1079Met Conflicting Single submitter
Fanconi anemia
FANCI p.Thr1172Ile Conflicting Single submitter
Fanconi anemia

Predictors lean, ClinVar uncertain 687

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 687

FANCI p.Ala1081Thr Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Ala109Gly Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Ala1119Ser Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Ala1119Thr Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Ala1237Pro Uncertain significance Multiple submitters
Inborn genetic diseases
FANCI p.Ala1241Thr Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Ala1311Ser Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Ala136Ser Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Ala136Thr Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Ala239Val Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Ala278Val Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Ala452Thr Uncertain significance Multiple submitters
Inborn genetic diseases
FANCI p.Ala579Thr Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Ala60Gly Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Ala918Val Uncertain significance Multiple submitters
Inborn genetic diseases
FANCI p.Arg1019Gln Uncertain significance Multiple submitters
FANCI-related disorder
FANCI p.Arg1047Cys Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Arg1299Gln Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Arg1299Gly Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Arg1299Leu Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Arg1326Met Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Arg265Cys Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Arg265His Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Arg522Trp Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Arg602Gln Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Arg66Cys Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Arg66His Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Arg840Cys Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Arg840His Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Arg960Gln Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Asn110Asp Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Asn110Ser Uncertain significance Multiple submitters
Inborn genetic diseases
FANCI p.Asn1224Thr Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Asn1252Asp Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Asn302Ser Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Asn352Ser Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Asn576Ser Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Asn580Ser Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Asn711Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
FANCI p.Asn798Lys Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Asp15Glu Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Asp300Tyr Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Asp589Asn Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Asp783Glu Uncertain significance Multiple submitters
Inborn genetic diseases
FANCI p.Asp863Glu Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Asp876Gly Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Asp938Gly Uncertain significance Multiple submitters
Inborn genetic diseases
FANCI p.Cys1167Gly Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Cys674Phe Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Gln1091Arg Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Gln1091Glu Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Gln1109His Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Gln351Leu Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Gln3Arg Uncertain significance Multiple submitters
Inborn genetic diseases
FANCI p.Gln438Arg Uncertain significance Multiple submitters
Inborn genetic diseases
FANCI p.Gln494Arg Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Gln630Glu Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Gln686Arg Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Gln848Arg Uncertain significance Multiple submitters
Inborn genetic diseases
FANCI p.Gln848His Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Gln872Glu Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Gln973Arg Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Glu1093Lys Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Glu1300Asp Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Glu1300Lys Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Glu155Lys Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Glu252Lys Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Glu284Lys Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Glu691Lys Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Glu827Asp Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Glu855Gly Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Glu910Gln Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Glu945Gln Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Glu975Gln Uncertain significance Multiple submitters
Inborn genetic diseases
FANCI p.Gly1156Arg Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Gly1202Arg Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Gly1316Arg Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Gly299Glu Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Gly422Arg Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Gly79Glu Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Gly896Ala Uncertain significance Multiple submitters
Inborn genetic diseases
FANCI p.His1266Tyr Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.His1278Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
FANCI p.His292Arg Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.His373Arg Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.His417Arg Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.His98Tyr Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Ile1103Met Uncertain significance Multiple submitters
Inborn genetic diseases
FANCI p.Ile1134Val Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Ile1213Val Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Ile1250Val Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Ile233Val Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Ile271Val Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Ile279Val Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Ile425Val Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Ile432Val Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Ile5Val Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Ile651Val Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Ile658Phe Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Ile705Thr Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Ile735Thr Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Ile735Val Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Ile737Val Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Ile73Phe Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Ile760Val Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Ile784Leu Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Ile90Leu Uncertain significance Multiple submitters
Inborn genetic diseases
FANCI p.Ile927Met Uncertain significance Multiple submitters
Inborn genetic diseases
FANCI p.Leu1031Phe Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Leu1045Val Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Leu1148Arg Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Leu1153Val Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Leu1298Ile Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Leu134Val Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Leu230Val Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Leu312Val Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Leu445Phe Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Leu474Ile Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Leu553Met Uncertain significance Multiple submitters
Inborn genetic diseases
FANCI p.Leu647Ile Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Leu702Pro Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Leu781Ile Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Leu781Pro Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Leu95Gln Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Lys1015Arg Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Lys1232Glu Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Lys1270Arg Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Lys1290Glu Uncertain significance Multiple submitters
Inborn genetic diseases
FANCI p.Lys1324Arg Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Lys140Glu Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Lys280Arg Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Lys41Glu Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Lys902Arg Uncertain significance Multiple submitters
Inborn genetic diseases
FANCI p.Met1169Leu Uncertain significance Multiple submitters
Inborn genetic diseases
FANCI p.Met1169Val Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Met1194Val Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Met1279Val Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Met1296Thr Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Met1296Val Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Met201Val Uncertain significance Multiple submitters
Inborn genetic diseases
FANCI p.Met435Ile Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Met468Ile Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Met513Val Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Met604Val Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Met776Ile Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Met776Val Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Met807Val Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Met94Val Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Phe634Ile Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Phe768Tyr Uncertain significance Multiple submitters
Fanconi anemia complementation group I

Predictors split 115

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

FANCI p.Asp1063Val Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Cys1085Trp Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Cys1158Phe Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Glu581Asp Uncertain significance Multiple submitters
Inborn genetic diseases
FANCI p.Glu96Lys Benign/Likely benign Multiple submitters
Fanconi anemia
FANCI p.Gly269Asp Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Gly269Ser Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Ile1289Val Benign/Likely benign Multiple submitters
Fanconi anemia
FANCI p.Ile319Thr Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Leu1197Val Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Leu519Pro Uncertain significance Multiple submitters
Inborn genetic diseases
FANCI p.Leu6Ser Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Leu81Phe Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Leu95Pro Uncertain significance Multiple submitters
Inborn genetic diseases
FANCI p.Lys331Asn Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Pro505Ser Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Pro684Leu Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Ser371Asn Uncertain significance Multiple submitters
Fanconi anemia complementation group I
FANCI p.Ser950Ile Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Thr1143Ile Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Thr1174Arg Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Thr1283Asn Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Thr681Pro Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Tyr635Cys Uncertain significance Multiple submitters
Fanconi anemia
FANCI p.Tyr69His Uncertain significance Multiple submitters
Inborn genetic diseases
FANCI p.Ala1081Asp Uncertain significance Single submitter
FANCI p.Ala502Val Uncertain significance Single submitter
Inborn genetic diseases
FANCI p.Ala9Thr Uncertain significance Single submitter
Fanconi anemia complementation group I
FANCI p.Arg1245Leu Uncertain significance Single submitter
Fanconi anemia
FANCI p.Arg1245Trp Uncertain significance Single submitter
Fanconi anemia
FANCI p.Arg1285Gln Conflicting Single submitter
Fanconi anemia
FANCI p.Arg318Ile Uncertain significance Single submitter
Fanconi anemia
FANCI p.Arg767Gly Uncertain significance Single submitter
Fanconi anemia
FANCI p.Arg833Gly Uncertain significance Single submitter
Fanconi anemia
FANCI p.Arg833Met Uncertain significance Single submitter
Inborn genetic diseases
FANCI p.Arg884Ser Uncertain significance Single submitter
Fanconi anemia
FANCI p.Arg954Ser Uncertain significance Single submitter
Fanconi anemia complementation group I
FANCI p.Arg960Gly Uncertain significance Single submitter
Fanconi anemia
FANCI p.Arg964Lys Uncertain significance Single submitter
Fanconi anemia
FANCI p.Asn1218Tyr Uncertain significance Single submitter
Inborn genetic diseases
FANCI p.Asp1061His Uncertain significance Single submitter
Fanconi anemia
FANCI p.Asp515Gly Uncertain significance Single submitter
Fanconi anemia
FANCI p.Asp820Gly Uncertain significance Single submitter
Fanconi anemia
FANCI p.Asp820Tyr Uncertain significance Single submitter
Fanconi anemia
FANCI p.Cys1085Phe Uncertain significance Single submitter
Fanconi anemia
FANCI p.Cys1209Tyr Uncertain significance Single submitter
FANCI p.Cys419Arg Uncertain significance Single submitter
FANCI p.Cys584Tyr Uncertain significance Single submitter
Fanconi anemia complementation group I
FANCI p.Cys875Arg Uncertain significance Single submitter
Fanconi anemia
FANCI p.Gln1259His Uncertain significance Single submitter
Inborn genetic diseases
FANCI p.Glu1065Lys Conflicting Single submitter
Fanconi anemia
FANCI p.Glu1131Gly Uncertain significance Single submitter
Fanconi anemia
FANCI p.Glu1147Lys Uncertain significance Single submitter
Fanconi anemia
FANCI p.Glu1246Ala Uncertain significance Single submitter
Fanconi anemia
FANCI p.Glu586Asp Uncertain significance Single submitter
Fanconi anemia
FANCI p.Glu719Lys Uncertain significance Single submitter
Fanconi anemia complementation group I
FANCI p.Glu893Lys Uncertain significance Single submitter
Fanconi anemia
FANCI p.Gly102Arg Uncertain significance Single submitter
Fanconi anemia
FANCI p.Gly1058Arg Uncertain significance Single submitter
Fanconi anemia
FANCI p.Gly40Glu Uncertain significance Single submitter
Inborn genetic diseases
FANCI p.Gly61Glu Uncertain significance Single submitter
Fanconi anemia
FANCI p.His1054Arg Uncertain significance Single submitter
Fanconi anemia
FANCI p.His1204Leu Uncertain significance Single submitter
Fanconi anemia
FANCI p.His274Asp Uncertain significance Single submitter
Inborn genetic diseases
FANCI p.Ile271Phe Uncertain significance Single submitter
Fanconi anemia complementation group I
FANCI p.Ile5Met Uncertain significance Single submitter
Fanconi anemia
FANCI p.Ile959Thr Uncertain significance Single submitter
Fanconi anemia complementation group I
FANCI p.Leu121Pro Uncertain significance Single submitter
Fanconi anemia
FANCI p.Leu1264Phe Uncertain significance Single submitter
Fanconi anemia
FANCI p.Leu313Val Uncertain significance Single submitter
Fanconi anemia
FANCI p.Leu521Phe Uncertain significance Single submitter
Fanconi anemia complementation group I
FANCI p.Leu6Phe Uncertain significance Single submitter
Fanconi anemia complementation group I
FANCI p.Leu969Phe Conflicting Single submitter
Fanconi anemia
FANCI p.Lys1012Asn Uncertain significance Single submitter
Fanconi anemia
FANCI p.Lys1269Asn Uncertain significance Single submitter
Inborn genetic diseases
FANCI p.Lys1288Asn Uncertain significance Single submitter
Fanconi anemia
FANCI p.Lys545Asn Uncertain significance Single submitter
FANCI p.Lys926Thr Uncertain significance Single submitter
Fanconi anemia
FANCI p.Met1006Ile Uncertain significance Single submitter
FANCI p.Met1276Ile Uncertain significance Single submitter
Fanconi anemia
FANCI p.Met1279Thr Uncertain significance Single submitter
Fanconi anemia
FANCI p.Phe1145Leu Uncertain significance Single submitter
Fanconi anemia
FANCI p.Phe236Leu Uncertain significance Single submitter
Fanconi anemia
FANCI p.Phe634Leu Uncertain significance Single submitter
Fanconi anemia
FANCI p.Phe809Tyr Uncertain significance Single submitter
FANCI p.Phe871Leu Uncertain significance Single submitter
Fanconi anemia
FANCI p.Phe930Leu Uncertain significance Single submitter
Fanconi anemia
FANCI p.Pro1154Ser Uncertain significance Single submitter
Fanconi anemia
FANCI p.Pro1207Leu Uncertain significance Single submitter
Fanconi anemia
FANCI p.Pro414Leu Uncertain significance Single submitter
FANCI p.Pro492Arg Uncertain significance Single submitter
Inborn genetic diseases
FANCI p.Pro663Ser Uncertain significance Single submitter
Fanconi anemia
FANCI p.Ser1187Tyr Uncertain significance Single submitter
Fanconi anemia
FANCI p.Ser361Leu Uncertain significance Single submitter
Fanconi anemia
FANCI p.Ser478Pro Uncertain significance Single submitter
Fanconi anemia
FANCI p.Ser552Arg Uncertain significance Single submitter
Fanconi anemia
FANCI p.Ser629Pro Uncertain significance Single submitter
Fanconi anemia
FANCI p.Ser716Asn Uncertain significance Single submitter
Inborn genetic diseases
FANCI p.Ser764Arg Uncertain significance Single submitter
Fanconi anemia
FANCI p.Ser782Pro Uncertain significance Single submitter
Fanconi anemia complementation group I
FANCI p.Thr1104Pro Uncertain significance Single submitter
Fanconi anemia
FANCI p.Thr1143Arg Uncertain significance Single submitter
Fanconi anemia
FANCI p.Thr1283Ile Uncertain significance Single submitter
Fanconi anemia
FANCI p.Thr332Pro Uncertain significance Single submitter
Fanconi anemia
FANCI p.Thr495Pro Uncertain significance Single submitter
Inborn genetic diseases
FANCI p.Thr733Ala Uncertain significance Single submitter
Fanconi anemia
FANCI p.Thr856Pro Uncertain significance Single submitter
Fanconi anemia
FANCI p.Trp169Leu Uncertain significance Single submitter
Inborn genetic diseases
FANCI p.Trp375Arg Uncertain significance Single submitter
Fanconi anemia
FANCI p.Trp883Cys Uncertain significance Single submitter
Fanconi anemia
FANCI p.Val106Asp Uncertain significance Single submitter
Inborn genetic diseases
FANCI p.Val378Phe Uncertain significance Single submitter
Fanconi anemia
FANCI p.Val746Gly Uncertain significance Single submitter
Fanconi anemia complementation group I
FANCI p.Cys750Arg Pathogenic No assertion criteria
Fanconi anemia complementation group I
FANCI p.Thr1174Ile Pathogenic No assertion criteria
Fanconi anemia complementation group I

All FANCI variants

Pathogenic 85

p.Gln1062Ter Multiple submitters Fanconi anemia complementation group I
p.Ser1268fs Multiple submitters Fanconi anemia
c.3720+1G>A Single submitter
c.85-1656_157+358del Single submitter
p.Ala452fs Single submitter Fanconi anemia
p.Arg1178fs Single submitter Fanconi anemia
p.Arg265fs Single submitter Fanconi anemia
p.Asn162Ter Single submitter Fanconi anemia
p.Asn580fs Single submitter Fanconi anemia
p.Asn978fs Single submitter Fanconi anemia
p.Asp170fs Single submitter Fanconi anemia
p.Asp783fs Single submitter Fanconi anemia
p.Asp946fs Single submitter Fanconi anemia
p.Cys1158Ter Single submitter Fanconi anemia
p.Gln1217fs Single submitter Fanconi anemia
p.Gln159Ter Single submitter Fanconi anemia
p.Gln22Ter Single submitter Fanconi anemia
p.Gln497Ter Single submitter Fanconi anemia
p.Gln618Ter Single submitter Fanconi anemia
p.Gln672Ter Single submitter Fanconi anemia
p.Gln731Ter Single submitter Fanconi anemia
p.Gln826Ter Single submitter Fanconi anemia
p.Gln82Ter Single submitter Fanconi anemia
p.Gln865Ter Single submitter Fanconi anemia
p.Gln872Ter Single submitter Fanconi anemia
p.Gln921Ter Single submitter Fanconi anemia
p.Glu1067Ter Single submitter Fanconi anemia
p.Glu1258Ter Single submitter Fanconi anemia
p.Glu247Ter Single submitter Fanconi anemia
p.Glu442Ter Single submitter Fanconi anemia
p.Glu722Ter Single submitter Fanconi anemia
p.Glu945fs Single submitter Fanconi anemia
p.Gly1227fs Single submitter Fanconi anemia
p.Gly688Ter Single submitter Fanconi anemia
p.Ile1257fs Single submitter Fanconi anemia
p.Leu1049Ter Single submitter Fanconi anemia
p.Leu21fs Single submitter Fanconi anemia
p.Leu273fs Single submitter Fanconi anemia
p.Leu293Ter Single submitter Fanconi anemia
p.Leu312fs Single submitter Fanconi anemia
p.Leu385fs Single submitter Fanconi anemia
p.Leu488fs Single submitter Fanconi anemia
p.Leu660fs Single submitter Fanconi anemia
p.Leu781fs Single submitter Fanconi anemia
p.Leu805fs Single submitter Fanconi anemia
p.Leu966_Leu967insTer Single submitter Fanconi anemia
p.Lys1107fs Single submitter Fanconi anemia
p.Lys1164fs Single submitter Fanconi anemia complementation group I
p.Lys1229fs Single submitter Fanconi anemia
p.Lys1270Ter Single submitter Fanconi anemia
p.Lys369Ter Single submitter Fanconi anemia
p.Met525fs Single submitter Fanconi anemia
p.Phe775fs Single submitter Fanconi anemia
p.Pro1001fs Single submitter Fanconi anemia
p.Pro211fs Single submitter Fanconi anemia
p.Pro663fs Single submitter Fanconi anemia
p.Ser1011fs Single submitter Fanconi anemia
p.Ser1090fs Single submitter Fanconi anemia
p.Ser114Ter Single submitter Fanconi anemia
p.Ser1157fs Single submitter Fanconi anemia
p.Ser1222fs Single submitter Fanconi anemia
p.Ser1284fs Single submitter Fanconi anemia
p.Ser464Ter Single submitter Fanconi anemia
p.Ser552delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer Single submitter Fanconi anemia
p.Ser559fs Single submitter Fanconi anemia
p.Ser905Ter Single submitter Fanconi anemia
p.Thr1174fs Single submitter Fanconi anemia
p.Trp169Ter Single submitter Fanconi anemia
p.Trp677fs Single submitter Fanconi anemia
p.Tyr1225fs Single submitter Fanconi anemia
p.Tyr1260Ter Single submitter Fanconi anemia
p.Tyr393Ter Single submitter Fanconi anemia
p.Tyr469Ter Single submitter Fanconi anemia
p.Tyr606fs Single submitter Fanconi anemia
p.Tyr635fs Single submitter Fanconi anemia
c.157+78G>A No assertion criteria Fanconi anemia complementation group I
c.3350-88A>G No assertion criteria Fanconi anemia complementation group I
c.756-25_756-19del No assertion criteria Fanconi anemia complementation group I
p.Asp1301fs No assertion criteria Fanconi anemia complementation group I
p.Cys750Arg No assertion criteria Fanconi anemia complementation group I ⚠
p.Gly1309_Ter1329del No assertion criteria Fanconi anemia complementation group I
p.His1146fs No assertion criteria Fanconi anemia complementation group I
p.His858Tyr No assertion criteria Fanconi anemia complementation group I ⚠
p.Met1Thr No assertion criteria Fanconi anemia complementation group I
p.Thr1174Ile No assertion criteria Fanconi anemia complementation group I ⚠

Pathogenic/Likely pathogenic 55

c.158-2A>G Multiple submitters Fanconi anemia complementation group I
c.446del Multiple submitters Fanconi anemia complementation group I
p.Arg117Ter Multiple submitters Fanconi anemia complementation group I
p.Arg1285Ter Multiple submitters FANCI-related disorders
p.Arg1299Ter Multiple submitters Fetal anomalies with a likely genetic cause
p.Arg533Ter Multiple submitters Fanconi anemia
p.Arg602Ter Multiple submitters Fanconi anemia complementation group I
p.Arg614Ter Multiple submitters Fanconi anemia complementation group I
p.Arg712Ter Multiple submitters FANCI-related disorders
p.Arg879Ter Multiple submitters Fanconi anemia
p.Arg944fs Multiple submitters Fanconi anemia
p.Arg954fs Multiple submitters Fanconi anemia
p.Asn304fs Multiple submitters Fanconi anemia complementation group I
p.Asp1165fs Multiple submitters Fanconi anemia
p.Asp80fs Multiple submitters Fanconi anemia
p.Cys1014Tyr Multiple submitters Fanconi anemia complementation group I
p.Cys1209fs Multiple submitters Fanconi anemia complementation group I
p.Cys777Ter Multiple submitters Fanconi anemia
p.Gln171Ter Multiple submitters FANCI-related disorder
p.Gln297Ter Multiple submitters Fanconi anemia
p.Gln351Ter Multiple submitters FANCI-related disorder
p.Gln438fs Multiple submitters Fanconi anemia
p.Gln633Ter Multiple submitters Fanconi anemia
p.Gln823Ter Multiple submitters Fanconi anemia complementation group I
p.Gln913Ter Multiple submitters Fanconi anemia complementation group I
p.Glu1303Ter Multiple submitters Fanconi anemia complementation group I
p.Glu247fs Multiple submitters Fanconi anemia complementation group I
p.Glu837Ter Multiple submitters Fanconi anemia
p.Glu894Ter Multiple submitters Fanconi anemia
p.Glu899fs Multiple submitters Fanconi anemia
p.Gly296Ter Multiple submitters Fanconi anemia
p.Gly401fs Multiple submitters Fanconi anemia
p.Gly857fs Multiple submitters Fanconi anemia complementation group I
p.His292fs Multiple submitters Fanconi anemia
p.His99fs Multiple submitters Fanconi anemia complementation group I
p.Ile279fs Multiple submitters Fanconi anemia
p.Leu1049fs Multiple submitters Fanconi anemia
p.Leu1208fs Multiple submitters Fanconi anemia
p.Leu164fs Multiple submitters Fanconi anemia
p.Leu627fs Multiple submitters Fanconi anemia complementation group I
p.Leu781_Ser782insTer Multiple submitters Fanconi anemia
p.Leu983fs Multiple submitters Fanconi anemia
p.Lys1040fs Multiple submitters Fanconi anemia complementation group I
p.Lys1221fs Multiple submitters Fanconi anemia
p.Lys548fs Multiple submitters Fanconi anemia
p.Lys780fs Multiple submitters Fanconi anemia
p.Lys808Ter Multiple submitters Fanconi anemia
p.Ser333Ter Multiple submitters FANCI-related disorders
p.Thr1226fs Multiple submitters Fanconi anemia complementation group I
p.Tyr1039fs Multiple submitters Fanconi anemia
p.Tyr283Ter Multiple submitters Fanconi anemia
p.Tyr487Ter Multiple submitters Fanconi anemia
p.Tyr699Ter Multiple submitters Fanconi anemia
p.Tyr778fs Multiple submitters Fanconi anemia
p.Val986fs Multiple submitters Fanconi anemia

Likely pathogenic 131

c.1512+1G>A Multiple submitters Fanconi anemia
c.1584-1G>C Multiple submitters Fanconi anemia
c.1698+1G>A Multiple submitters Fanconi anemia
c.1891-2A>G Multiple submitters Fanconi anemia
c.2291+2T>A Multiple submitters Fanconi anemia
c.2292-1G>T Multiple submitters Fanconi anemia
c.2456+1G>A Multiple submitters Fanconi anemia
c.2457-2A>G Multiple submitters Fanconi anemia
c.2804-2A>G Multiple submitters Fanconi anemia
c.2804-2A>T Multiple submitters Fanconi anemia
c.3006+3A>G Multiple submitters Fanconi anemia complementation group I
c.3058+1G>A Multiple submitters Fanconi anemia
c.3187-2A>G Multiple submitters Fanconi anemia
c.3652-1G>T Multiple submitters Fanconi anemia
c.542_545+57del Multiple submitters Fanconi anemia
c.85-1G>T Multiple submitters Fanconi anemia complementation group I
p.Gln416Ter Multiple submitters Fanconi anemia complementation group I
p.Gln687Ter Multiple submitters Fanconi anemia complementation group I
p.Thr886fs Multiple submitters Fanconi anemia complementation group I
c.1112+2T>C Single submitter Fanconi anemia complementation group I
c.1113-1G>A Single submitter Fanconi anemia
c.1293+1G>A Single submitter Fanconi anemia
c.1293+1G>T Single submitter Fanconi anemia complementation group I
c.1293+2T>G Single submitter Fanconi anemia
c.1381+1G>A Single submitter Fanconi anemia complementation group I
c.1381+1G>T Single submitter Fanconi anemia
c.157+1G>A Single submitter Fanconi anemia
c.1583+2T>C Single submitter Fanconi anemia complementation group I
c.1584-1G>A Single submitter Fanconi anemia complementation group I
c.1699-2A>C Single submitter Fanconi anemia complementation group I
c.1822-2A>C Single submitter Fanconi anemia
c.1890+1G>T Single submitter Fanconi anemia complementation group I
c.2169+1G>A Single submitter Fanconi anemia
c.2169+2T>C Single submitter Fanconi anemia
c.2291+1G>A Single submitter Fanconi anemia
c.2637-1G>C Single submitter Fanconi anemia
c.2637-1G>T Single submitter Fanconi anemia complementation group I
c.2804-1G>A Single submitter Fanconi anemia
c.2804-1G>C Single submitter Fanconi anemia
c.2889+1G>A Single submitter Fanconi anemia complementation group I
c.2889+2T>C Single submitter Fanconi anemia
c.289-2A>G Single submitter Fanconi anemia complementation group I
c.2890-1G>A Single submitter
c.2890-2A>C Single submitter Fanconi anemia complementation group I
c.3006+1G>A Single submitter Fanconi anemia
c.3007-1G>A Single submitter Fanconi anemia
c.3007-1G>T Single submitter Fanconi anemia complementation group I
c.3058+1G>C Single submitter Fanconi anemia
c.3538-2A>T Single submitter Fanconi anemia
c.3584_3592-24del Single submitter Fanconi anemia
c.3591+1G>A Single submitter Fanconi anemia
c.3591+1G>C Single submitter Fanconi anemia
c.3816+2T>C Single submitter Fanconi anemia complementation group I
c.3924+1G>A Single submitter Fanconi anemia
c.3924+2T>C Single submitter Fanconi anemia complementation group I
c.446-2A>G Single submitter Fanconi anemia
c.504-2A>G Single submitter Fanconi anemia
c.545+1G>T Single submitter Fanconi anemia complementation group I
c.669+1G>T Single submitter Fanconi anemia complementation group I
c.84+2_84+3del Single submitter Fanconi anemia
c.85-1G>A Single submitter Fanconi anemia
c.85-2A>G Single submitter Fanconi anemia
c.879_882+14del Single submitter Fanconi anemia
c.882+2T>A Single submitter Fanconi anemia
c.882+2T>C Single submitter Fanconi anemia
p.Ala789fs Single submitter Fanconi anemia complementation group I
p.Asn1193fs Single submitter Fanconi anemia complementation group I
p.Asn352fs Single submitter Fanconi anemia complementation group I
p.Asn739fs Single submitter Fanconi anemia complementation group I
p.Asp656fs Single submitter Fanconi anemia complementation group I
p.Asp720_Phe721insTer Single submitter Fanconi anemia complementation group I
p.Asp876fs Single submitter Fanconi anemia complementation group I
p.Cys56fs Single submitter Fanconi anemia complementation group I
p.Cys584fs Single submitter Fanconi anemia complementation group I
p.Gln1122fs Single submitter Fanconi anemia complementation group I
p.Gln1182Ter Single submitter Fanconi anemia complementation group I
p.Gln1277Ter Single submitter Fanconi anemia complementation group I
p.Gln159fs Single submitter Fanconi anemia complementation group I
p.Gln176fs Single submitter Fanconi anemia complementation group I
p.Gln320Ter Single submitter FANCI-related disorders
p.Gln342Ter Single submitter Fanconi anemia complementation group I
p.Gln597Ter Single submitter Fanconi anemia complementation group I
p.Gln630Ter Single submitter Fanconi anemia complementation group I
p.Gln661Ter Single submitter Fanconi anemia complementation group I
p.Gln74Ter Single submitter Fanconi anemia complementation group I
p.Glu1067fs Single submitter Fanconi anemia complementation group I
p.Glu1097fs Single submitter Fanconi anemia complementation group I
p.Glu1118Ter Single submitter Fanconi anemia complementation group I
p.Glu26fs Single submitter Fanconi anemia complementation group I
p.Glu384fs Single submitter Fanconi anemia complementation group I
p.Glu636fs Single submitter Fanconi anemia complementation group I
p.Glu695fs Single submitter Fanconi anemia complementation group I
p.Glu84fs Single submitter Fanconi anemia complementation group I
p.Glu96fs Single submitter
p.Ile1293fs Single submitter Fanconi anemia complementation group A
p.Ile234fs Single submitter Fanconi anemia complementation group I
p.Ile275fs Single submitter Fanconi anemia complementation group I
p.Ile877fs Single submitter Fanconi anemia complementation group I
p.Leu1267fs Single submitter Fanconi anemia complementation group I
p.Leu491fs Single submitter Fanconi anemia complementation group I
p.Leu544Pro Single submitter
p.Leu645fs Single submitter Fanconi anemia complementation group I
p.Leu909Ter Single submitter Fanconi anemia complementation group I
p.Leu969fs Single submitter Fanconi anemia complementation group I
p.Leu984_Leu985insTer Single submitter FANCI-related disorders
p.Leu992Ter Single submitter Fanconi anemia complementation group I
p.Lys1230fs Single submitter Fanconi anemia complementation group I
p.Lys1269Ter Single submitter Fanconi anemia complementation group I
p.Lys141fs Single submitter Fanconi anemia complementation group I
p.Lys227fs Single submitter Fanconi anemia
p.Lys396Ter Single submitter Fanconi anemia complementation group I
p.Lys715Ter Single submitter Fanconi anemia complementation group I
p.Lys898fs Single submitter Fanconi anemia complementation group I
p.Lys900fs Single submitter Fanconi anemia complementation group I
p.Phe193_Lys197delinsTer Single submitter Fanconi anemia complementation group I
p.Phe349fs Single submitter Fanconi anemia complementation group I
p.Ser1027fs Single submitter Fanconi anemia complementation group I
p.Ser1111fs Single submitter Fanconi anemia complementation group I
p.Ser120fs Single submitter Fanconi anemia complementation group I
p.Ser1220fs Single submitter Fanconi anemia complementation group I
p.Ser249fs Single submitter Fanconi anemia complementation group I
p.Ser261Ter Single submitter Fanconi anemia complementation group I
p.Ser333fs Single submitter Fanconi anemia complementation group I
p.Ser563fs Single submitter Fanconi anemia complementation group I
p.Ser565fs Single submitter Fanconi anemia complementation group I
p.Ser732fs Single submitter Fanconi anemia complementation group I
p.Ser860fs Single submitter Fanconi anemia complementation group I
p.Tyr1039Ter Single submitter Fanconi anemia complementation group I
p.Tyr1215Ter Single submitter Fanconi anemia complementation group I
p.Val1084fs Single submitter Fanconi anemia complementation group I
p.Val229fs Single submitter Fanconi anemia complementation group I

Conflicting classifications of pathogenicity 73

c.1113-10G>C Single submitter Fanconi anemia
c.157+7A>G Single submitter Fanconi anemia complementation group I
c.1698+11_1698+14del Single submitter Fanconi anemia
c.1699-11C>T Single submitter Fanconi anemia
c.1890+10A>G Single submitter Fanconi anemia complementation group I
c.2169+12G>A Single submitter Fanconi anemia
c.2292-11G>C Single submitter Fanconi anemia
c.2292-6T>C Single submitter Fanconi anemia
c.2457-8C>G Single submitter Fanconi anemia
c.288+10C>T Single submitter Fanconi anemia complementation group I
c.2890-13C>T Single submitter Fanconi anemia
c.3007-1G>C Single submitter Fanconi anemia
c.3059-11C>T Single submitter Fanconi anemia
c.3059-4del Single submitter Fanconi anemia
c.3059-4dup Single submitter Fanconi anemia
c.3186+7_3186+8insG Single submitter Fanconi anemia
c.3255+1G>C Single submitter Fanconi anemia
c.3592-12C>T Single submitter Fanconi anemia complementation group I
c.3652-10A>G Single submitter Fanconi anemia
c.3721-15G>A Single submitter Fanconi anemia complementation group I
c.3721-19T>G Single submitter Fanconi anemia
c.3721-1G>C Single submitter Fanconi anemia
c.3721-7C>T Single submitter
c.546-5C>T Single submitter Fanconi anemia
c.546-6C>T Single submitter Fanconi anemia
c.85-19C>G Single submitter Fanconi anemia
c.882+15G>T Single submitter Fanconi anemia complementation group I
c.976-13A>T Single submitter Fanconi anemia
c.976-1G>T Single submitter Fanconi anemia
p.Arg1019Trp Single submitter Fanconi anemia ⚠
p.Arg1285Gln Single submitter Fanconi anemia ⚠
p.Asn711= Single submitter Fanconi anemia
p.Asn836Ser Single submitter Inborn genetic diseases ⚠
p.Asp251= Single submitter Fanconi anemia
p.Asp531= Single submitter Fanconi anemia
p.Asp802= Single submitter Fanconi anemia
p.Cys156Tyr Single submitter Fanconi anemia ⚠
p.Gln1137= Single submitter Fanconi anemia
p.Gln1317Ter Single submitter
p.Gln176= Single submitter Fanconi anemia
p.Gln497= Single submitter Fanconi anemia
p.Gln961_Phe962insTrpGln Single submitter Fanconi anemia complementation group I
p.Glu1065Lys Single submitter Fanconi anemia ⚠
p.Gly1188Arg Single submitter Fanconi anemia ⚠
p.Gly1309= Single submitter Fanconi anemia
p.Gly1316= Single submitter Fanconi anemia
p.Gly232= Single submitter Fanconi anemia complementation group I
p.Gly53Ala Single submitter Fanconi anemia ⚠
p.Gly655Arg Single submitter Fanconi anemia ⚠
p.His1054= Single submitter Fanconi anemia complementation group I
p.His568Arg Single submitter Fanconi anemia complementation group I ⚠
p.Ile275Thr Single submitter Fanconi anemia ⚠
p.Ile466= Single submitter Fanconi anemia
p.Leu1208= Single submitter Fanconi anemia
p.Leu619Gln Single submitter Fanconi anemia complementation group I ⚠
p.Leu647= Single submitter Fanconi anemia
p.Leu829= Single submitter hereditary neoplastic syndrome
p.Leu969Phe Single submitter Fanconi anemia ⚠
p.Lys1026= Single submitter Fanconi anemia
p.Lys339= Single submitter Fanconi anemia
p.Met525Val Single submitter Fanconi anemia ⚠
p.Phe583= Single submitter Fanconi anemia
p.Ser1038Leu Single submitter Inborn genetic diseases ⚠
p.Ser1220= Single submitter Fanconi anemia
p.Ser371Gly Single submitter Fanconi anemia complementation group I ⚠
p.Ser392= Single submitter Fanconi anemia
p.Ser895= Single submitter Fanconi anemia
p.Thr1079Met Single submitter Fanconi anemia ⚠
p.Thr1172Ile Single submitter Fanconi anemia ⚠
p.Thr952= Single submitter Fanconi anemia
p.Tyr1179= Single submitter Fanconi anemia complementation group I
p.Val259= Single submitter Fanconi anemia complementation group I
p.Val859= Single submitter Fanconi anemia

Benign 100

c.1112+154G>C Multiple submitters
c.1294-89A>G Multiple submitters
c.1513-52C>G Multiple submitters
c.158-121G>A Multiple submitters
c.158-42G>T Multiple submitters
c.1583+87G>A Multiple submitters
c.2457-101G>A Multiple submitters
c.288+37G>A Multiple submitters Fanconi anemia complementation group I
c.2889+128G>A Multiple submitters
c.3007-65G>A Multiple submitters
c.3255+93C>G Multiple submitters
c.3350-109G>A Multiple submitters
c.3651+19G>A Multiple submitters Fanconi anemia
c.3651+220A>G Multiple submitters
c.3651+226G>A Multiple submitters
c.3720+47G>A Multiple submitters
c.3721-145T>G Multiple submitters
c.3721-39T>C Multiple submitters
c.3816+28A>G Multiple submitters
c.3924+39C>T Multiple submitters
c.3925-135G>A Multiple submitters
c.3925-251A>G Multiple submitters
c.545+30G>A Multiple submitters Fanconi anemia complementation group I
c.669+103G>A Multiple submitters
c.756-148T>C Multiple submitters
c.756-87G>C Multiple submitters
c.883-50G>A Multiple submitters
c.975+42T>C Multiple submitters
c.975+43A>C Multiple submitters
c.*244dup Multiple submitters
p.Val290Met Multiple submitters Fanconi anemia complementation group I
p.Val372Ile Multiple submitters Fanconi anemia
c.1294-186G>A Single submitter
c.1294-285A>G Single submitter
c.1382-143A>C Single submitter
c.1513-152C>T Single submitter
c.158-213G>A Single submitter
c.1583+17del Single submitter Fanconi anemia
c.1698+265A>C Single submitter
c.1821+133G>T Single submitter
c.1821+51del Single submitter
c.1822-156T>C Single submitter
c.1822-279T>C Single submitter
c.1993-10del Single submitter Fanconi anemia
c.2170-3dup Single submitter Fanconi anemia
c.2292-120T>C Single submitter
c.2292-12dup Single submitter Fanconi anemia
c.2292-271C>A Single submitter
c.2292-296C>A Single submitter
c.2292-5dup Single submitter Fanconi anemia
c.2456+263G>A Single submitter
c.2457-273_2457-272insCCAA Single submitter
c.2457-308_2457-307del Single submitter
c.2636+289_2636+290del Single submitter
c.2636+290del Single submitter
c.288+19del Single submitter Fanconi anemia
c.2889+189G>C Single submitter
c.289-306dup Single submitter
c.2890-322G>T Single submitter
c.3006+176C>T Single submitter
c.3006+187G>A Single submitter
c.3006+337A>C Single submitter
c.3007-216T>C Single submitter
c.3059-322del Single submitter
c.3187-7del Single submitter Fanconi anemia
c.3537+186A>G Single submitter
c.3538-6del Single submitter Fanconi anemia
c.3538-6dup Single submitter Fanconi anemia
c.3538-7_3538-6del Single submitter Fanconi anemia
c.3652-191G>T Single submitter
c.3652-69del Single submitter
c.3652-70_3652-69dup Single submitter
c.3816+127_3816+129del Single submitter
c.3816+139C>T Single submitter
c.3816+17_3816+19del Single submitter Fanconi anemia
c.3817-255T>C Single submitter
c.3925-7del Single submitter Fanconi anemia
c.503+221G>A Single submitter
c.503+81_503+82dup Single submitter
c.545+16del Single submitter Fanconi anemia
c.85-206A>G Single submitter
c.85-214A>G Single submitter
c.85-258G>C Single submitter
c.882+139del Single submitter
c.883-17del Single submitter Fanconi anemia
c.883-50_883-46del Single submitter
c.883-51del Single submitter
c.883-67del Single submitter
c.975+10dup Single submitter Fanconi anemia
c.975+23dup Single submitter Fanconi anemia
c.975+286_975+288del Single submitter
c.975+42del Single submitter
c.975+64_975+66del Single submitter
c.975+64_975+66dup Single submitter
c.975+65_975+66del Single submitter
c.975+66del Single submitter
c.975+66dup Single submitter
c.-19-149A>G Single submitter
p.Ala816Gly Single submitter Fanconi anemia
p.Lys849= Single submitter Fanconi anemia

Benign/Likely benign 39

c.1294-8C>T Multiple submitters Fanconi anemia complementation group I
c.1584-15C>G Multiple submitters Fanconi anemia
c.1698+15C>T Multiple submitters Fanconi anemia
c.1698+16G>A Multiple submitters Fanconi anemia
c.1699-7C>A Multiple submitters Fanconi anemia
c.1992+10T>C Multiple submitters Fanconi anemia
c.3006+15A>C Multiple submitters Fanconi anemia
c.3255+6dup Multiple submitters Fanconi anemia
c.3592-8T>C Multiple submitters Fanconi anemia
c.3652-70_3652-69del Multiple submitters Fanconi anemia complementation group A
c.3720+14A>G Multiple submitters Fanconi anemia complementation group I
c.3721-127_3721-126insGTACAA Multiple submitters
c.3816+15A>T Multiple submitters Fanconi anemia
c.3925-14C>G Multiple submitters Fanconi anemia
c.545+19C>T Multiple submitters Fanconi anemia
p.Ala676= Multiple submitters Fanconi anemia complementation group I
p.Ala789= Multiple submitters Fanconi anemia
p.Ala86Val Multiple submitters Fanconi anemia
p.Arg944Ser Multiple submitters Fanconi anemia
p.Asn1017= Multiple submitters Fanconi anemia
p.Cys742Ser Multiple submitters Fanconi anemia
p.Gln686Lys Multiple submitters Fanconi anemia
p.Gln961= Multiple submitters Fanconi anemia
p.Glu442= Multiple submitters Fanconi anemia
p.Glu868Asp Multiple submitters Fanconi anemia
p.Glu96Lys Multiple submitters Fanconi anemia ⚠
p.Gly1302= Multiple submitters Fanconi anemia
p.Ile1289Val Multiple submitters Fanconi anemia ⚠
p.Ile404Thr Multiple submitters Fanconi anemia
p.Ile671Val Multiple submitters Fanconi anemia
p.Ile877Leu Multiple submitters Fanconi anemia
p.Leu605Phe Multiple submitters Fanconi anemia
p.Leu631Phe Multiple submitters Fanconi anemia
p.Lys939Asn Multiple submitters Fanconi anemia
p.Pro55Leu Multiple submitters Fanconi anemia
p.Ser1282= Multiple submitters Fanconi anemia
p.Ser999= Multiple submitters Fanconi anemia
p.Tyr173= Multiple submitters Fanconi anemia
p.Tyr393= Multiple submitters Fanconi anemia complementation group I

Likely benign 888

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

c.1112+8G>C Multiple submitters Fanconi anemia complementation group I
c.1113-11T>C Multiple submitters Fanconi anemia
c.1512+12G>C Multiple submitters Fanconi anemia
c.1513-16A>C Multiple submitters Fanconi anemia complementation group I
c.158-18C>T Multiple submitters Fanconi anemia
c.1699-17del Multiple submitters Fanconi anemia
c.1699-20T>C Multiple submitters Fanconi anemia
c.1822-18C>T Multiple submitters Fanconi anemia
c.1891-4A>G Multiple submitters Fanconi anemia
c.1992+80T>C Multiple submitters
c.2291+12C>G Multiple submitters Fanconi anemia
c.2457-12G>C Multiple submitters Fanconi anemia
c.2636+11C>G Multiple submitters Fanconi anemia
c.2637-19C>T Multiple submitters Fanconi anemia
c.2803+19A>G Multiple submitters Fanconi anemia
c.2804-75A>G Multiple submitters
c.2890-19G>A Multiple submitters Fanconi anemia
c.3006+11C>T Multiple submitters Fanconi anemia
c.3007-41T>C Multiple submitters
c.3007-7A>G Multiple submitters Fanconi anemia
c.3058+10C>T Multiple submitters Fanconi anemia
c.3059-14C>A Multiple submitters Fanconi anemia
c.3059-17T>A Multiple submitters Fanconi anemia
c.3059-4C>T Multiple submitters Fanconi anemia
c.3186+14C>T Multiple submitters Fanconi anemia
c.3256-9T>C Multiple submitters Fanconi anemia
c.3537+19C>G Multiple submitters Fanconi anemia
c.3591+16C>G Multiple submitters Fanconi anemia
c.3592-16C>T Multiple submitters Fanconi anemia
c.3592-9G>A Multiple submitters Fanconi anemia complementation group I
c.3652-10A>T Multiple submitters Fanconi anemia complementation group I
c.3652-9T>C Multiple submitters Fanconi anemia
c.3816+16T>C Multiple submitters Fanconi anemia
c.3817-18C>T Multiple submitters Fanconi anemia
c.445+13C>T Multiple submitters Fanconi anemia
c.445+14G>A Multiple submitters Fanconi anemia
c.446-6T>G Multiple submitters Fanconi anemia
c.669+14A>G Multiple submitters Fanconi anemia complementation group I
c.669+17_669+18del Multiple submitters Fanconi anemia
c.670-13G>A Multiple submitters Fanconi anemia
c.755+16T>C Multiple submitters Fanconi anemia
c.84+114G>A Multiple submitters
c.84+131A>G Multiple submitters
c.84+150A>G Multiple submitters
c.882+10A>G Multiple submitters Fanconi anemia
c.975+43A>G Multiple submitters
c.976-5T>C Multiple submitters Fanconi anemia
p.Ala1092= Multiple submitters Fanconi anemia
p.Ala235= Multiple submitters Fanconi anemia
p.Ala599= Multiple submitters Fanconi anemia
p.Ala797Val Multiple submitters Fanconi anemia
p.Ala982= Multiple submitters Fanconi anemia complementation group I
p.Arg840= Multiple submitters Fanconi anemia
p.Asp783= Multiple submitters Fanconi anemia
p.Gln416= Multiple submitters Fanconi anemia
p.Glu1065= Multiple submitters Fanconi anemia
p.Glu1097= Multiple submitters Fanconi anemia
p.Glu11= Multiple submitters Fanconi anemia
p.Glu88= Multiple submitters Fanconi anemia
p.Gly1316Glu Multiple submitters Fanconi anemia
p.Gly539= Multiple submitters Fanconi anemia
p.Gly861= Multiple submitters Fanconi anemia
p.His266= Multiple submitters Fanconi anemia
p.His274= Multiple submitters Fanconi anemia
p.His373= Multiple submitters Fanconi anemia
p.His568= Multiple submitters Fanconi anemia
p.Ile272= Multiple submitters Fanconi anemia
p.Leu1023= Multiple submitters Fanconi anemia
p.Leu1138= Multiple submitters Fanconi anemia
p.Leu421= Multiple submitters Fanconi anemia
p.Leu6= Multiple submitters Fanconi anemia
p.Leu641= Multiple submitters Fanconi anemia
p.Leu652= Multiple submitters Fanconi anemia
p.Leu675= Multiple submitters Fanconi anemia
p.Leu81= Multiple submitters Fanconi anemia
p.Leu907= Multiple submitters Fanconi anemia
p.Lys1094= Multiple submitters Fanconi anemia
p.Lys280= Multiple submitters Fanconi anemia
p.Lys331= Multiple submitters Fanconi anemia
p.Pro1082= Multiple submitters Fanconi anemia
p.Pro55= Multiple submitters Fanconi anemia complementation group I
p.Ser1187= Multiple submitters Fanconi anemia
p.Ser203= Multiple submitters Fanconi anemia
p.Ser333= Multiple submitters Fanconi anemia
p.Ser337= Multiple submitters Fanconi anemia
p.Ser371= Multiple submitters Inborn genetic diseases
p.Ser917= Multiple submitters Fanconi anemia
p.Ser979= Multiple submitters Fanconi anemia
p.Thr178= Multiple submitters Fanconi anemia
p.Tyr1215= Multiple submitters Fanconi anemia complementation group I
p.Tyr699= Multiple submitters Fanconi anemia
p.Tyr778= Multiple submitters Fanconi anemia
p.Val1084= Multiple submitters Fanconi anemia
p.Val378= Multiple submitters Fanconi anemia
p.Val38= Multiple submitters Fanconi anemia
c.1112+11G>A Single submitter Fanconi anemia
c.1112+13_1112+14insAGATATGAA Single submitter Fanconi anemia
c.1112+14C>G Single submitter Fanconi anemia
c.1112+16A>G Single submitter Fanconi anemia
c.1112+7del Single submitter Fanconi anemia
c.1113-12G>C Single submitter Fanconi anemia
c.1113-13T>C Single submitter Fanconi anemia
c.1113-17G>A Single submitter Fanconi anemia
c.1113-20T>C Single submitter Fanconi anemia
c.1113-4G>C Single submitter Fanconi anemia
c.1113-5T>C Single submitter Fanconi anemia
c.1293+11A>G Single submitter Fanconi anemia
c.1293+7C>T Single submitter Fanconi anemia
c.1293+8A>G Single submitter Fanconi anemia
c.1293+9C>T Single submitter Fanconi anemia
c.1294-11G>A Single submitter Fanconi anemia
c.1294-11G>C Single submitter Fanconi anemia
c.1294-13C>T Single submitter
c.1294-16A>T Single submitter Fanconi anemia
c.1294-17T>C Single submitter Fanconi anemia
c.1294-20A>T Single submitter Fanconi anemia
c.1294-8del Single submitter Fanconi anemia
c.1294-9_1294-8insA Single submitter Fanconi anemia
c.1381+12T>C Single submitter Fanconi anemia
c.1381+12T>G Single submitter Fanconi anemia
c.1381+19A>T Single submitter Fanconi anemia
c.1381+21_1381+24del Single submitter Fanconi anemia
c.1381+8A>C Single submitter Fanconi anemia
c.1381+8A>G Single submitter Fanconi anemia
c.1382-11_1382-10del Single submitter Fanconi anemia
c.1382-11C>G Single submitter Fanconi anemia
c.1382-18A>G Single submitter Fanconi anemia
c.1382-18A>T Single submitter Fanconi anemia
c.1382-19T>C Single submitter Fanconi anemia
c.1382-20T>C Single submitter Fanconi anemia
c.1512+12G>A Single submitter Fanconi anemia
c.1512+16C>G Single submitter Fanconi anemia
c.1512+20A>C Single submitter Fanconi anemia
c.1513-13G>C Single submitter Fanconi anemia
c.1513-17C>T Single submitter Fanconi anemia
c.1513-18C>G Single submitter Fanconi anemia
c.1513-9C>A Single submitter Fanconi anemia
c.1513-9C>G Single submitter Fanconi anemia
c.157+14A>G Single submitter Fanconi anemia
c.157+15T>C Single submitter Fanconi anemia
c.157+16G>C Single submitter Fanconi anemia
c.157+19A>T Single submitter Fanconi anemia
c.157+2TAA[2] Single submitter Fanconi anemia
c.158-15G>C Single submitter Fanconi anemia
c.158-16T>C Single submitter Fanconi anemia
c.158-18C>G Single submitter Fanconi anemia
c.158-19C>A Single submitter Fanconi anemia
c.158-19C>T Single submitter Fanconi anemia
c.158-20C>T Single submitter Fanconi anemia
c.158-9A>T Single submitter Fanconi anemia
c.1583+10A>G Single submitter Fanconi anemia
c.1583+12C>T Single submitter Fanconi anemia
c.1583+159T>C Single submitter
c.1583+15T>C Single submitter Fanconi anemia
c.1583+162G>A Single submitter
c.1583+16T>G Single submitter Fanconi anemia
c.1583+19T>G Single submitter Fanconi anemia
c.1583+20A>G Single submitter Fanconi anemia
c.1583+4T>C Single submitter hereditary neoplastic syndrome
c.1583+9C>T Single submitter Fanconi anemia
c.1584-11T>C Single submitter Fanconi anemia
c.1584-13A>G Single submitter Fanconi anemia
c.1584-14dup Single submitter Fanconi anemia
c.1584-14T>G Single submitter Fanconi anemia
c.1584-15C>T Single submitter Fanconi anemia
c.1584-20C>T Single submitter Fanconi anemia
c.1698+10A>G Single submitter Fanconi anemia
c.1698+11T>C Single submitter Fanconi anemia
c.1698+9T>C Single submitter Fanconi anemia
c.1699-13G>A Single submitter Fanconi anemia
c.1699-14T>C Single submitter Fanconi anemia
c.1699-15del Single submitter Fanconi anemia
c.1699-16C>T Single submitter Fanconi anemia
c.1699-17G>A Single submitter Fanconi anemia
c.1699-20T>G Single submitter Fanconi anemia
c.1699-274G>A Single submitter
c.1699-4T>A Single submitter Fanconi anemia
c.1699-7del Single submitter Fanconi anemia
c.1699-8C>T Single submitter Fanconi anemia
c.1821+13A>G Single submitter Fanconi anemia
c.1821+15T>C Single submitter Fanconi anemia
c.1821+7C>G Single submitter Fanconi anemia
c.1821+8C>T Single submitter Fanconi anemia
c.1821+9G>A Single submitter Fanconi anemia
c.1822-11A>T Single submitter Fanconi anemia
c.1822-12G>C Single submitter Fanconi anemia
c.1822-15T>C Single submitter Fanconi anemia
c.1822-16C>A Single submitter Fanconi anemia
c.1822-16C>T Single submitter Fanconi anemia
c.1822-6T>C Single submitter Fanconi anemia
c.1822-7C>G Single submitter Fanconi anemia
c.1822-7del Single submitter Fanconi anemia
c.1822-8C>G Single submitter Fanconi anemia
c.1890+12T>C Single submitter Fanconi anemia
c.1890+19G>T Single submitter Fanconi anemia
c.1890+20A>C Single submitter Fanconi anemia
c.1890+48G>A Single submitter
c.1890+8A>G Single submitter Fanconi anemia
c.1890+9C>T Single submitter Fanconi anemia
c.1891-10C>A Single submitter Fanconi anemia
c.1891-10C>T Single submitter Fanconi anemia
c.1891-11A>G Single submitter Fanconi anemia
c.1891-13T>C Single submitter Fanconi anemia
c.1891-14C>G Single submitter Fanconi anemia
c.1891-19T>C Single submitter Fanconi anemia
c.1891-261T>C Single submitter
c.1891-6A>G Single submitter Fanconi anemia
c.1891-8A>G Single submitter Fanconi anemia
c.1992+11T>C Single submitter Fanconi anemia
c.1992+12A>G Single submitter Fanconi anemia
c.1992+15C>T Single submitter Fanconi anemia
c.1993-15T>C Single submitter Fanconi anemia
c.1993-17C>G Single submitter Fanconi anemia
c.1993-19_1993-15del Single submitter Fanconi anemia
c.1993-6C>T Single submitter Fanconi anemia
c.1993-7C>G Single submitter Fanconi anemia
c.1993-7C>T Single submitter Fanconi anemia
c.2169+10A>G Single submitter Fanconi anemia
c.2169+15C>T Single submitter Fanconi anemia
c.2169+18A>G Single submitter Fanconi anemia
c.2169+9T>C Single submitter Fanconi anemia
c.2169+9T>G Single submitter Fanconi anemia
c.2170-11G>A Single submitter Fanconi anemia
c.2170-15T>C Single submitter
c.2170-4T>C Single submitter Fanconi anemia
c.2170-6T>C Single submitter Fanconi anemia
c.2170-7C>A Single submitter Fanconi anemia
c.2170-9_2170-8del Single submitter Fanconi anemia
c.2291+10T>C Single submitter Fanconi anemia
c.2291+13T>C Single submitter Fanconi anemia
c.2291+14A>G Single submitter Fanconi anemia
c.2291+15T>C Single submitter Fanconi anemia
c.2291+20C>A Single submitter Fanconi anemia
c.2291+221A>G Single submitter
c.2291+251C>G Single submitter
c.2292-12T>C Single submitter Fanconi anemia
c.2292-16T>G Single submitter Fanconi anemia
c.2292-17T>C Single submitter Fanconi anemia
c.2292-18C>A Single submitter Fanconi anemia
c.2292-20C>G Single submitter Fanconi anemia
c.2292-4A>C Single submitter Fanconi anemia
c.2292-8_2292-7insAT Single submitter Fanconi anemia
c.2456+10T>C Single submitter Fanconi anemia
c.2456+12C>G Single submitter Fanconi anemia
c.2456+16A>G Single submitter Fanconi anemia
c.2456+17G>C Single submitter Fanconi anemia
c.2456+19G>A Single submitter Fanconi anemia
c.2457-10C>G Single submitter Fanconi anemia
c.2457-10C>T Single submitter Fanconi anemia
c.2457-11TC[3] Single submitter Fanconi anemia
c.2457-12_2457-3del Single submitter Fanconi anemia
c.2457-12G>A Single submitter Fanconi anemia
c.2457-14C>T Single submitter Fanconi anemia
c.2457-16C>G Single submitter Fanconi anemia
c.2457-16C>T Single submitter Fanconi anemia
c.2457-18C>T Single submitter Fanconi anemia
c.2457-20C>G Single submitter Fanconi anemia
c.2457-20C>T Single submitter Fanconi anemia
c.2457-23TC[3] Single submitter Fanconi anemia
c.2457-272dup Single submitter
c.2457-4C>A Single submitter Fanconi anemia
c.2457-4C>T Single submitter Fanconi anemia
c.2457-7T>C Single submitter Fanconi anemia
c.2457-8C>T Single submitter Fanconi anemia
c.2636+10T>A Single submitter Fanconi anemia
c.2636+12C>G Single submitter Fanconi anemia
c.2636+15C>T Single submitter Fanconi anemia
c.2636+17C>T Single submitter Fanconi anemia
c.2636+18C>A Single submitter Fanconi anemia
c.2636+18C>T Single submitter Fanconi anemia
c.2636+20T>C Single submitter Fanconi anemia
c.2636+7C>A Single submitter Fanconi anemia
c.2636+7C>T Single submitter Fanconi anemia
c.2636+8A>G Single submitter Fanconi anemia
c.2636+9C>A Single submitter Fanconi anemia
c.2636+9C>T Single submitter Fanconi anemia
c.2637-12C>A Single submitter Fanconi anemia
c.2637-12C>G Single submitter Fanconi anemia
c.2637-15T>C Single submitter Fanconi anemia
c.2637-16C>T Single submitter Fanconi anemia
c.2637-18C>T Single submitter Fanconi anemia
c.2637-5T>C Single submitter Fanconi anemia
c.2803+11C>G Single submitter Fanconi anemia
c.2803+13G>A Single submitter Fanconi anemia
c.2803+15A>T Single submitter Fanconi anemia
c.2803+16T>A Single submitter Fanconi anemia
c.2803+18A>T Single submitter Fanconi anemia
c.2803+8T>C Single submitter Fanconi anemia
c.2804-14T>A Single submitter Fanconi anemia
c.2804-19G>A Single submitter Fanconi anemia
c.2804-4C>A Single submitter Fanconi anemia
c.2804-5C>A Single submitter Fanconi anemia
c.2804-5C>G Single submitter Fanconi anemia
c.2804-9C>T Single submitter Fanconi anemia
c.288+10C>G Single submitter Fanconi anemia
c.288+13A>T Single submitter Fanconi anemia
c.288+13del Single submitter Fanconi anemia
c.288+15_288+16insGT Single submitter Fanconi anemia
c.288+18_288+19delinsTC Single submitter Fanconi anemia
c.288+19A>T Single submitter Fanconi anemia

Uncertain significance 980

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

c.1112+3_1112+6del Multiple submitters Fanconi anemia complementation group I
c.1112+3A>G Multiple submitters Fanconi anemia
c.1698+4A>G Multiple submitters Fanconi anemia
c.1698+6G>T Multiple submitters Fanconi anemia
c.1699-3C>G Multiple submitters Fanconi anemia
c.1821+5G>A Multiple submitters Fanconi anemia
c.1992+3G>C Multiple submitters Fanconi anemia complementation group I
c.2169+8C>G Multiple submitters Fanconi anemia
c.2636+4A>G Multiple submitters Fanconi anemia
c.288+3A>G Multiple submitters Fanconi anemia
c.3186+3A>G Multiple submitters Fanconi anemia
c.3537+3_3537+6del Multiple submitters Fanconi anemia
c.3591+4A>T Multiple submitters Fanconi anemia
c.3816+4A>G Multiple submitters Fanconi anemia complementation group I
c.3816+6C>T Multiple submitters Fanconi anemia
c.3817-12A>G Multiple submitters Fanconi anemia
c.-10A>G Multiple submitters Fanconi anemia complementation group I
p.Ala1081Thr Multiple submitters Fanconi anemia complementation group I ⚠
p.Ala109Gly Multiple submitters Fanconi anemia ⚠
p.Ala1119Ser Multiple submitters Fanconi anemia complementation group I ⚠
p.Ala1119Thr Multiple submitters Fanconi anemia ⚠
p.Ala1237Pro Multiple submitters Inborn genetic diseases ⚠
p.Ala1241Thr Multiple submitters Fanconi anemia complementation group I ⚠
p.Ala1311Ser Multiple submitters Fanconi anemia complementation group I ⚠
p.Ala136Ser Multiple submitters Fanconi anemia ⚠
p.Ala136Thr Multiple submitters Fanconi anemia ⚠
p.Ala239Val Multiple submitters Fanconi anemia complementation group I ⚠
p.Ala278Val Multiple submitters Fanconi anemia ⚠
p.Ala452Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala579Thr Multiple submitters Fanconi anemia ⚠
p.Ala60Gly Multiple submitters Fanconi anemia ⚠
p.Ala918Val Multiple submitters Inborn genetic diseases ⚠
p.Arg1019Gln Multiple submitters FANCI-related disorder ⚠
p.Arg1047Cys Multiple submitters Fanconi anemia ⚠
p.Arg1178Gly Multiple submitters Fanconi anemia
p.Arg1299Gln Multiple submitters Fanconi anemia ⚠
p.Arg1299Gly Multiple submitters Fanconi anemia ⚠
p.Arg1299Leu Multiple submitters Fanconi anemia ⚠
p.Arg1326Met Multiple submitters Fanconi anemia ⚠
p.Arg265Cys Multiple submitters Fanconi anemia ⚠
p.Arg265His Multiple submitters Fanconi anemia ⚠
p.Arg522Trp Multiple submitters Fanconi anemia ⚠
p.Arg602Gln Multiple submitters Fanconi anemia ⚠
p.Arg66Cys Multiple submitters Fanconi anemia complementation group I ⚠
p.Arg66His Multiple submitters Fanconi anemia ⚠
p.Arg840Cys Multiple submitters Fanconi anemia ⚠
p.Arg840His Multiple submitters Fanconi anemia complementation group I ⚠
p.Arg960Gln Multiple submitters Fanconi anemia ⚠
p.Arg960Trp Multiple submitters Fanconi anemia
p.Asn110Asp Multiple submitters Fanconi anemia complementation group I ⚠
p.Asn110Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn1224Thr Multiple submitters Fanconi anemia ⚠
p.Asn1252Asp Multiple submitters Fanconi anemia complementation group I ⚠
p.Asn302Ser Multiple submitters Fanconi anemia ⚠
p.Asn352Ser Multiple submitters Fanconi anemia ⚠
p.Asn576Ser Multiple submitters Fanconi anemia ⚠
p.Asn580Ser Multiple submitters Fanconi anemia ⚠
p.Asn711Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asn798Lys Multiple submitters Fanconi anemia complementation group I ⚠
p.Asp1063Val Multiple submitters Fanconi anemia ⚠
p.Asp15Glu Multiple submitters Fanconi anemia complementation group I ⚠
p.Asp300Tyr Multiple submitters Fanconi anemia ⚠
p.Asp589Asn Multiple submitters Fanconi anemia ⚠
p.Asp728Gly Multiple submitters Fanconi anemia
p.Asp783Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp863Glu Multiple submitters Fanconi anemia ⚠
p.Asp876Gly Multiple submitters Fanconi anemia ⚠
p.Asp938Gly Multiple submitters Inborn genetic diseases ⚠
p.Cys1085Trp Multiple submitters Fanconi anemia ⚠
p.Cys1158Phe Multiple submitters Fanconi anemia ⚠
p.Cys1167Gly Multiple submitters Fanconi anemia ⚠
p.Cys674Phe Multiple submitters Fanconi anemia complementation group I ⚠
p.Gln1091Arg Multiple submitters Fanconi anemia ⚠
p.Gln1091Glu Multiple submitters Fanconi anemia ⚠
p.Gln1109His Multiple submitters Fanconi anemia complementation group I ⚠
p.Gln351Leu Multiple submitters Fanconi anemia ⚠
p.Gln3Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln438Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln494Arg Multiple submitters Fanconi anemia ⚠
p.Gln504= Multiple submitters Fanconi anemia
p.Gln630Glu Multiple submitters Fanconi anemia ⚠
p.Gln686Arg Multiple submitters Fanconi anemia ⚠
p.Gln848Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln848His Multiple submitters Fanconi anemia ⚠
p.Gln872Glu Multiple submitters Fanconi anemia ⚠
p.Gln973Arg Multiple submitters Fanconi anemia ⚠
p.Glu1093Lys Multiple submitters Fanconi anemia ⚠
p.Glu1300Asp Multiple submitters Fanconi anemia complementation group I ⚠
p.Glu1300Lys Multiple submitters Fanconi anemia ⚠
p.Glu155Lys Multiple submitters Fanconi anemia complementation group I ⚠
p.Glu209Gln Multiple submitters Fanconi anemia complementation group I
p.Glu252Lys Multiple submitters Fanconi anemia ⚠
p.Glu284Lys Multiple submitters Fanconi anemia ⚠
p.Glu581Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu581Gly Multiple submitters Fanconi anemia complementation group I
p.Glu691Lys Multiple submitters Fanconi anemia ⚠
p.Glu693_Glu696del Multiple submitters Fanconi anemia
p.Glu827Asp Multiple submitters Fanconi anemia ⚠
p.Glu855Gly Multiple submitters Fanconi anemia ⚠
p.Glu910Gln Multiple submitters Fanconi anemia ⚠
p.Glu945Gln Multiple submitters Fanconi anemia ⚠
p.Glu975Gln Multiple submitters Inborn genetic diseases ⚠
p.Gly1055Arg Multiple submitters Inborn genetic diseases
p.Gly1156Arg Multiple submitters Fanconi anemia ⚠
p.Gly1202Arg Multiple submitters Fanconi anemia ⚠
p.Gly1316Arg Multiple submitters Fanconi anemia ⚠
p.Gly269Asp Multiple submitters Fanconi anemia ⚠
p.Gly269Ser Multiple submitters Fanconi anemia ⚠
p.Gly299Glu Multiple submitters Fanconi anemia ⚠
p.Gly422Arg Multiple submitters Fanconi anemia ⚠
p.Gly79Glu Multiple submitters Fanconi anemia ⚠
p.Gly896Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly941del Multiple submitters Fanconi anemia
p.His1266Tyr Multiple submitters Fanconi anemia complementation group I ⚠
p.His1278Tyr Multiple submitters Inborn genetic diseases ⚠
p.His292Arg Multiple submitters Fanconi anemia complementation group I ⚠
p.His373Arg Multiple submitters Fanconi anemia ⚠
p.His417Arg Multiple submitters Fanconi anemia ⚠
p.His458Gln Multiple submitters Inborn genetic diseases
p.His98Tyr Multiple submitters Fanconi anemia ⚠
p.Ile1103Met Multiple submitters Inborn genetic diseases ⚠
p.Ile1134Val Multiple submitters Fanconi anemia complementation group I ⚠
p.Ile1213Val Multiple submitters Fanconi anemia ⚠
p.Ile1250Val Multiple submitters Fanconi anemia ⚠
p.Ile233Val Multiple submitters Fanconi anemia ⚠
p.Ile271Val Multiple submitters Fanconi anemia complementation group I ⚠
p.Ile279Val Multiple submitters Fanconi anemia ⚠
p.Ile319Thr Multiple submitters Fanconi anemia ⚠
p.Ile425Val Multiple submitters Fanconi anemia ⚠
p.Ile432Val Multiple submitters Fanconi anemia ⚠
p.Ile5Val Multiple submitters Fanconi anemia complementation group I ⚠
p.Ile651Val Multiple submitters Fanconi anemia complementation group I ⚠
p.Ile658Phe Multiple submitters Fanconi anemia ⚠
p.Ile705Thr Multiple submitters Fanconi anemia complementation group I ⚠
p.Ile735Thr Multiple submitters Fanconi anemia ⚠
p.Ile735Val Multiple submitters Fanconi anemia ⚠
p.Ile737Val Multiple submitters Fanconi anemia complementation group I ⚠
p.Ile73Phe Multiple submitters Fanconi anemia ⚠
p.Ile760Val Multiple submitters Fanconi anemia ⚠
p.Ile784Leu Multiple submitters Fanconi anemia ⚠
p.Ile90Leu Multiple submitters Inborn genetic diseases ⚠
p.Ile927Met Multiple submitters Inborn genetic diseases ⚠
p.Leu1031Phe Multiple submitters Fanconi anemia ⚠
p.Leu1045Val Multiple submitters Fanconi anemia complementation group I ⚠
p.Leu1148Arg Multiple submitters Fanconi anemia complementation group I ⚠
p.Leu1153Val Multiple submitters Fanconi anemia ⚠
p.Leu1197Val Multiple submitters Fanconi anemia complementation group I ⚠
p.Leu1298Ile Multiple submitters Fanconi anemia ⚠
p.Leu134Val Multiple submitters Fanconi anemia ⚠
p.Leu230Val Multiple submitters Fanconi anemia ⚠
p.Leu312Val Multiple submitters Fanconi anemia ⚠
p.Leu33del Multiple submitters Fanconi anemia
p.Leu344del Multiple submitters Fanconi anemia
p.Leu445Phe Multiple submitters Fanconi anemia ⚠
p.Leu474Ile Multiple submitters Fanconi anemia ⚠
p.Leu507Phe Multiple submitters Fanconi anemia
p.Leu519Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu544Val Multiple submitters Inborn genetic diseases
p.Leu553Met Multiple submitters Inborn genetic diseases ⚠
p.Leu647Ile Multiple submitters Fanconi anemia complementation group I ⚠
p.Leu6Ser Multiple submitters Fanconi anemia ⚠
p.Leu702Pro Multiple submitters Fanconi anemia complementation group I ⚠
p.Leu781Ile Multiple submitters Fanconi anemia ⚠
p.Leu781Pro Multiple submitters Fanconi anemia ⚠
p.Leu81Phe Multiple submitters Fanconi anemia ⚠
p.Leu95Gln Multiple submitters Fanconi anemia ⚠
p.Leu95Pro Multiple submitters Inborn genetic diseases ⚠
p.Lys1015Arg Multiple submitters Fanconi anemia complementation group I ⚠
p.Lys1232Glu Multiple submitters Fanconi anemia complementation group I ⚠
p.Lys1270Arg Multiple submitters Fanconi anemia ⚠
p.Lys1290Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys1324Arg Multiple submitters Fanconi anemia ⚠
p.Lys1328fs Multiple submitters Fanconi anemia
p.Lys140Glu Multiple submitters Fanconi anemia ⚠
p.Lys280Arg Multiple submitters Fanconi anemia complementation group I ⚠
p.Lys331Asn Multiple submitters Fanconi anemia ⚠
p.Lys41Glu Multiple submitters Fanconi anemia ⚠
p.Lys902Arg Multiple submitters Inborn genetic diseases ⚠
p.Met1169Leu Multiple submitters Inborn genetic diseases ⚠
p.Met1169Val Multiple submitters Fanconi anemia ⚠
p.Met1194Val Multiple submitters Fanconi anemia complementation group I ⚠
p.Met1279Val Multiple submitters Fanconi anemia ⚠
p.Met1296Thr Multiple submitters Fanconi anemia complementation group I ⚠
p.Met1296Val Multiple submitters Fanconi anemia complementation group I ⚠
p.Met1Val Multiple submitters Fanconi anemia
p.Met201Val Multiple submitters Inborn genetic diseases ⚠
p.Met435Ile Multiple submitters Fanconi anemia ⚠
p.Met468Ile Multiple submitters Fanconi anemia complementation group I ⚠
p.Met513Val Multiple submitters Fanconi anemia complementation group I ⚠
p.Met604Val Multiple submitters Fanconi anemia ⚠
p.Met776Ile Multiple submitters Fanconi anemia complementation group I ⚠
p.Met776Val Multiple submitters Fanconi anemia ⚠
p.Met807Val Multiple submitters Fanconi anemia complementation group I ⚠
p.Met94Val Multiple submitters Fanconi anemia ⚠
p.Phe634Ile Multiple submitters Fanconi anemia complementation group I ⚠
p.Phe729Ile Multiple submitters Fanconi anemia
p.Phe758Cys Multiple submitters Inborn genetic diseases
p.Phe768Tyr Multiple submitters Fanconi anemia complementation group I ⚠
p.Pro1126Arg Multiple submitters Fanconi anemia ⚠
p.Pro1126Ser Multiple submitters FANCI-related disorder ⚠
p.Pro1207Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro307Ser Multiple submitters Fanconi anemia ⚠
p.Pro414Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro471Arg Multiple submitters Fanconi anemia ⚠
p.Pro505Ser Multiple submitters Fanconi anemia ⚠
p.Pro55Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro684Leu Multiple submitters Fanconi anemia ⚠
p.Pro889Ser Multiple submitters Fanconi anemia ⚠
p.Pro925Leu Multiple submitters Fanconi anemia ⚠
p.Pro998Ser Multiple submitters Fanconi anemia ⚠
p.Ser1018Arg Multiple submitters Fanconi anemia ⚠
p.Ser1018Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser1222Asn Multiple submitters Fanconi anemia ⚠
p.Ser1271Phe Multiple submitters Fanconi anemia
p.Ser222Phe Multiple submitters Fanconi anemia ⚠
p.Ser238Asn Multiple submitters Fanconi anemia ⚠
p.Ser238Gly Multiple submitters Fanconi anemia ⚠
p.Ser309Gly Multiple submitters Fanconi anemia complementation group I ⚠
p.Ser333Leu Multiple submitters Fanconi anemia ⚠
p.Ser347Pro Multiple submitters Fanconi anemia ⚠
p.Ser371Asn Multiple submitters Fanconi anemia complementation group I ⚠
p.Ser454Cys Multiple submitters Inborn genetic diseases ⚠
p.Ser512Ala Multiple submitters ⚠
p.Ser552Asn Multiple submitters Fanconi anemia complementation group I ⚠
p.Ser559Arg Multiple submitters Fanconi anemia ⚠
p.Ser617Cys Multiple submitters Fanconi anemia ⚠
p.Ser734Gly Multiple submitters Fanconi anemia ⚠
p.Ser78Leu Multiple submitters Fanconi anemia ⚠
p.Ser812Gly Multiple submitters Fanconi anemia ⚠
p.Ser835Asn Multiple submitters Fanconi anemia complementation group I ⚠
p.Ser887Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser895Leu Multiple submitters Fanconi anemia ⚠
p.Ser950Ile Multiple submitters Fanconi anemia ⚠
p.Ser950Thr Multiple submitters Fanconi anemia ⚠
p.Ser979Thr Multiple submitters Fanconi anemia ⚠
p.Ser993Thr Multiple submitters Inborn genetic diseases ⚠
p.Ter1329Lys Multiple submitters Fanconi anemia
p.Thr1069Arg Multiple submitters Fanconi anemia complementation group I ⚠
p.Thr1083Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr1140Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr1143Ile Multiple submitters Fanconi anemia ⚠
p.Thr1161Ala Multiple submitters Fanconi anemia ⚠
p.Thr1174Arg Multiple submitters Fanconi anemia ⚠
p.Thr1226Lys Multiple submitters Fanconi anemia ⚠
p.Thr1226Met Multiple submitters Fanconi anemia ⚠
p.Thr1283Asn Multiple submitters Fanconi anemia ⚠
p.Thr139Met Multiple submitters Fanconi anemia ⚠
p.Thr163Asn Multiple submitters Fanconi anemia ⚠
p.Thr258Ala Multiple submitters Fanconi anemia ⚠
p.Thr362Ala Multiple submitters Fanconi anemia complementation group I ⚠
p.Thr406Ser Multiple submitters Fanconi anemia ⚠
p.Thr681Pro Multiple submitters Fanconi anemia ⚠
p.Thr70Ile Multiple submitters Fanconi anemia complementation group I ⚠
p.Thr952Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr987Met Multiple submitters Fanconi anemia ⚠
p.Tyr1039Cys Multiple submitters Fanconi anemia ⚠
p.Tyr146Cys Multiple submitters Fanconi anemia complementation group I ⚠
p.Tyr173His Multiple submitters Fanconi anemia complementation group I ⚠
p.Tyr215Cys Multiple submitters Fanconi anemia
p.Tyr359Asn Multiple submitters Fanconi anemia ⚠
p.Tyr635Cys Multiple submitters Fanconi anemia ⚠
p.Tyr699Ser Multiple submitters Fanconi anemia ⚠
p.Tyr69Cys Multiple submitters Fanconi anemia ⚠
p.Tyr69His Multiple submitters Inborn genetic diseases ⚠
p.Tyr756His Multiple submitters Fanconi anemia complementation group I ⚠
p.Tyr923Cys Multiple submitters Fanconi anemia ⚠
p.Val1159Leu Multiple submitters Fanconi anemia complementation group I ⚠
p.Val1216Ile Multiple submitters Fanconi anemia complementation group I ⚠
p.Val1236Ile Multiple submitters Fanconi anemia ⚠
p.Val184Leu Multiple submitters Inborn genetic diseases ⚠
p.Val191Met Multiple submitters Fanconi anemia ⚠
p.Val267Ala Multiple submitters Fanconi anemia
p.Val316Ile Multiple submitters Fanconi anemia complementation group I ⚠
p.Val335Ile Multiple submitters Fanconi anemia ⚠
p.Val368Met Multiple submitters Fanconi anemia
p.Val383Ala Multiple submitters Fanconi anemia ⚠
p.Val467Ile Multiple submitters Fanconi anemia ⚠
p.Val473Gly Multiple submitters Fanconi anemia ⚠
p.Val481Gly Multiple submitters Fanconi anemia ⚠
p.Val509Ile Multiple submitters Fanconi anemia ⚠
p.Val601Ile Multiple submitters Fanconi anemia complementation group I ⚠
p.Val949Ile Multiple submitters Fanconi anemia ⚠
c.1113-10G>A Single submitter Fanconi anemia complementation group I
c.1294-3T>C Single submitter Fanconi anemia complementation group I
c.1382-5T>C Single submitter Fanconi anemia complementation group I
c.1382-608C>G Single submitter
c.1512+3A>G Single submitter Fanconi anemia complementation group I
c.1512+5G>C Single submitter Fanconi anemia
c.158-19C>G Single submitter Fanconi anemia complementation group I
c.158-5A>G Single submitter Fanconi anemia
c.1583+3A>G Single submitter Fanconi anemia
c.1584-4C>G Single submitter Fanconi anemia complementation group I
c.1821+4A>G Single submitter Fanconi anemia complementation group I
c.1822-3T>C Single submitter Fanconi anemia
c.1822-8C>A Single submitter
c.1890+3A>C Single submitter Fanconi anemia complementation group I
c.1890+3A>G Single submitter Fanconi anemia complementation group I
c.1890+4A>G Single submitter
c.1891-3C>T Single submitter Fanconi anemia
c.2170-3T>C Single submitter Fanconi anemia