ABCC2 — 1241 ClinVar variants
All ClinVar germline ABCC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 358 flagged for review →
108 Pathogenic · 24 Pathogenic/Likely pathogenic · 47 Likely pathogenic · 84 Conflicting · 78 Benign · 15 Benign/Likely benign · 532 Likely benign · 353 Uncertain significance
Full ABCC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 358
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 15
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ABCC2 p.Ala370Val
Conflicting
Single submitter
Inborn genetic diseases
-
ABCC2 p.Arg529Gln
Conflicting
Single submitter
Dubin-Johnson syndrome
-
ABCC2 p.Arg655Gln
Conflicting
Single submitter
Inborn genetic diseases
-
ABCC2 p.Arg905Lys
Conflicting
Single submitter
Inborn genetic diseases
-
ABCC2 p.Asn1063Ser
Conflicting
Single submitter
Dubin-Johnson syndrome
-
ABCC2 p.Asn1216Lys
Conflicting
Single submitter
Dubin-Johnson syndrome
-
ABCC2 p.Asp333Gly
Conflicting
Single submitter
Dubin-Johnson syndrome
-
ABCC2 p.Gly693Arg
Conflicting
Single submitter
Dubin-Johnson syndrome
-
ABCC2 p.Gly758Val
Conflicting
Single submitter
Dubin-Johnson syndrome
-
ABCC2 p.Ile1359Leu
Conflicting
Single submitter
ABCC2-related disorder
-
ABCC2 p.Lys68Thr
Conflicting
Single submitter
Inborn genetic diseases
-
ABCC2 p.Met246Leu
Conflicting
Single submitter
Dubin-Johnson syndrome
-
ABCC2 p.Met320Val
Conflicting
Single submitter
Inborn genetic diseases
-
ABCC2 p.Ser789Phe
Conflicting
Single submitter
Dubin-Johnson syndrome
- ABCC2 p.Val1127Ile Conflicting Single submitter
Predictors lean, ClinVar uncertain 182
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 182
-
ABCC2 p.Arg1023Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Arg219Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Arg260Gln
Uncertain significance
Multiple submitters
ABCC2-related disorder
-
ABCC2 p.Arg612Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Arg768Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Asp1021Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Asp1403Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ABCC2 p.Asp1461Gly Uncertain significance Multiple submitters
-
ABCC2 p.Asp620Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ABCC2 p.Cys363Tyr Uncertain significance Multiple submitters
-
ABCC2 p.Glu647Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Gly1028Arg
Uncertain significance
Multiple submitters
ABCC2-related disorder
-
ABCC2 p.Gly1086Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Gly1298Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Gly1325Ser
Uncertain significance
Multiple submitters
Dubin-Johnson syndrome
-
ABCC2 p.Gly1510Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Gly173Arg
Uncertain significance
Multiple submitters
ABCC2-related disorder
-
ABCC2 p.Gly835Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Ile1009Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Ile759Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ABCC2 p.Ile769Thr Uncertain significance Multiple submitters
-
ABCC2 p.Leu537Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Leu734Pro
Uncertain significance
Multiple submitters
Dubin-Johnson syndrome
-
ABCC2 p.Leu834Pro
Uncertain significance
Multiple submitters
Dubin-Johnson syndrome
-
ABCC2 p.Leu971Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Lys698Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Met988Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Pro19Leu
Uncertain significance
Multiple submitters
Dubin-Johnson syndrome
-
ABCC2 p.Ser240Gly
Uncertain significance
Multiple submitters
ABCC2-related disorder
-
ABCC2 p.Ser351Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Ser821Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Ser8Phe
Uncertain significance
Multiple submitters
Dubin-Johnson syndrome
-
ABCC2 p.Ser919Thr
Uncertain significance
Multiple submitters
Dubin-Johnson syndrome
-
ABCC2 p.Ser978Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ABCC2 p.Thr1004Ile Uncertain significance Multiple submitters
-
ABCC2 p.Thr1477Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Thr244Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Trp1003Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Trp1003Leu
Uncertain significance
Multiple submitters
Dubin-Johnson syndrome
-
ABCC2 p.Val1050Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Val70Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Ala1413Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Ala1492Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ABCC2 p.Ala395Thr Uncertain significance Single submitter
-
ABCC2 p.Ala538Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ABCC2 p.Ala626Ser Uncertain significance Single submitter
-
ABCC2 p.Ala642Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Ala772Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- ABCC2 p.Arg1146Cys Uncertain significance Single submitter
- ABCC2 p.Arg1146His Uncertain significance Single submitter
-
ABCC2 p.Arg1210Leu
Uncertain significance
Single submitter
Dubin-Johnson syndrome
- ABCC2 p.Arg1349Thr Uncertain significance Single submitter
-
ABCC2 p.Arg219His
Uncertain significance
Single submitter
Dubin-Johnson syndrome
-
ABCC2 p.Arg255Gln
Uncertain significance
Single submitter
Dubin-Johnson syndrome
- ABCC2 p.Arg529Trp Uncertain significance Single submitter
-
ABCC2 p.Arg590Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ABCC2 p.Arg768Pro Uncertain significance Single submitter
- ABCC2 p.Arg918Thr Uncertain significance Single submitter
-
ABCC2 p.Asn1204Lys
Uncertain significance
Single submitter
Dubin-Johnson syndrome
-
ABCC2 p.Asn1244Lys
Uncertain significance
Single submitter
Dubin-Johnson syndrome
- ABCC2 p.Asn1303His Uncertain significance Single submitter
-
ABCC2 p.Asn632Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ABCC2 p.Asn718Ser Uncertain significance Single submitter
-
ABCC2 p.Asp1152Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- ABCC2 p.Asp1396Asn Uncertain significance Single submitter
- ABCC2 p.Asp717Glu Uncertain significance Single submitter
-
ABCC2 p.Asp750His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Cys737Arg
Uncertain significance
Single submitter
ABCC2-related disorder
- ABCC2 p.Gln1179Glu Uncertain significance Single submitter
-
ABCC2 p.Gln1194Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ABCC2 p.Gln1480Arg Uncertain significance Single submitter
- ABCC2 p.Gln69Pro Uncertain significance Single submitter
-
ABCC2 p.Gln972Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- ABCC2 p.Glu1165Lys Uncertain significance Single submitter
- ABCC2 p.Glu1519Lys Uncertain significance Single submitter
- ABCC2 p.Glu228Lys Uncertain significance Single submitter
-
ABCC2 p.Gly275Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Gly300Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Gly674Ser
Uncertain significance
Single submitter
Dubin-Johnson syndrome
- ABCC2 p.Gly676Glu Uncertain significance Single submitter
- ABCC2 p.Gly686Arg Uncertain significance Single submitter
- ABCC2 p.Gly686Glu Uncertain significance Single submitter
-
ABCC2 p.Gly764Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ABCC2 p.Gly808Ala Uncertain significance Single submitter
- ABCC2 p.Gly808Ser Uncertain significance Single submitter
-
ABCC2 p.His923Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Ile1159Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Ile1272Thr
Uncertain significance
Single submitter
Dubin-Johnson syndrome
- ABCC2 p.Ile1360Thr Uncertain significance Single submitter
- ABCC2 p.Ile1439Met Uncertain significance Single submitter
-
ABCC2 p.Ile1489Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ABCC2 p.Ile1489Thr Uncertain significance Single submitter
-
ABCC2 p.Ile178Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Ile334Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Ile452Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ABCC2 p.Ile479Val Uncertain significance Single submitter
- ABCC2 p.Ile661Val Uncertain significance Single submitter
-
ABCC2 p.Ile754Asn
Uncertain significance
Single submitter
Dubin-Johnson syndrome
- ABCC2 p.Ile831Thr Uncertain significance Single submitter
- ABCC2 p.Ile974Met Uncertain significance Single submitter
-
ABCC2 p.Leu1095Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ABCC2 p.Leu1183Met Uncertain significance Single submitter
-
ABCC2 p.Leu1347Pro
Uncertain significance
Single submitter
ABCC2-related disorder
- ABCC2 p.Leu1370Phe Uncertain significance Single submitter
-
ABCC2 p.Leu310Trp
Uncertain significance
Single submitter
Dubin-Johnson syndrome
- ABCC2 p.Leu362Pro Uncertain significance Single submitter
- ABCC2 p.Leu480Pro Uncertain significance Single submitter
- ABCC2 p.Leu537Pro Uncertain significance Single submitter
-
ABCC2 p.Leu771Pro
Uncertain significance
Single submitter
Dubin-Johnson syndrome
-
ABCC2 p.Leu939Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Lys1008Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Lys1340Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Lys1340Glu
Uncertain significance
Single submitter
ABCC2-related disorder
-
ABCC2 p.Lys387Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Lys497Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Lys57Arg
Uncertain significance
Single submitter
Dubin-Johnson syndrome
-
ABCC2 p.Lys766Gln
Uncertain significance
Single submitter
Dubin-Johnson syndrome
-
ABCC2 p.Lys813Asn
Uncertain significance
Single submitter
Dubin-Johnson syndrome
-
ABCC2 p.Lys860Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Lys940Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Met1118Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Met1139Ile
Uncertain significance
Single submitter
Dubin-Johnson syndrome
-
ABCC2 p.Met1327Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Met246Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Met438Val
Uncertain significance
Single submitter
Dubin-Johnson syndrome
- ABCC2 p.Met492Thr Uncertain significance Single submitter
-
ABCC2 p.Phe1072Ser
Uncertain significance
Single submitter
Dubin-Johnson syndrome
-
ABCC2 p.Phe1176Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Phe135Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ABCC2 p.Phe1387Leu Uncertain significance Single submitter
- ABCC2 p.Phe1387Ser Uncertain significance Single submitter
-
ABCC2 p.Phe1483Val
Uncertain significance
Single submitter
Dubin-Johnson syndrome
-
ABCC2 p.Phe824Ser
Uncertain significance
Single submitter
ABCC2-related disorder
- ABCC2 p.Phe981Ser Uncertain significance Single submitter
-
ABCC2 p.Pro1096Leu
Uncertain significance
Single submitter
Dubin-Johnson syndrome
- ABCC2 p.Pro1397Leu Uncertain significance Single submitter
- ABCC2 p.Pro45Ser Uncertain significance Single submitter
-
ABCC2 p.Pro592Leu
Uncertain significance
Single submitter
Dubin-Johnson syndrome
-
ABCC2 p.Pro868Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Ser1001Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Ser1101Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Ser1342Tyr
Uncertain significance
Single submitter
Dubin-Johnson syndrome
-
ABCC2 p.Ser139Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Ser139Pro
Uncertain significance
Single submitter
Dubin-Johnson syndrome
-
ABCC2 p.Ser351Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Ser679Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- ABCC2 p.Ser762Asn Uncertain significance Single submitter
- ABCC2 p.Ser890Asn Uncertain significance Single submitter
-
ABCC2 p.Ser916Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Thr1192Asn
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 161
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 161
-
ABCC2 p.Ala1450Ser
Uncertain significance
Multiple submitters
Dubin-Johnson syndrome
-
ABCC2 p.Arg1079Gln
Uncertain significance
Multiple submitters
Dubin-Johnson syndrome
-
ABCC2 p.Arg1100Cys
Uncertain significance
Multiple submitters
Dubin-Johnson syndrome
-
ABCC2 p.Arg1181Gln
Uncertain significance
Multiple submitters
Dubin-Johnson syndrome
-
ABCC2 p.Arg1181Leu
Benign/Likely benign
Multiple submitters
Dubin-Johnson syndrome
- ABCC2 p.Arg1453Trp Uncertain significance Multiple submitters
-
ABCC2 p.Arg152Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Arg393Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Arg590His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Arg911Gln
Uncertain significance
Multiple submitters
ABCC2-related disorder
-
ABCC2 p.Arg915Cys
Likely benign
Multiple submitters
Dubin-Johnson syndrome
-
ABCC2 p.Arg934Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Gln1523Pro
Benign
Multiple submitters
Dubin-Johnson syndrome
-
ABCC2 p.Gly1516Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.His1485Arg
Uncertain significance
Multiple submitters
Dubin-Johnson syndrome
-
ABCC2 p.Ile1036Thr
Benign/Likely benign
Multiple submitters
Dubin-Johnson syndrome
- ABCC2 p.Ile448Met Uncertain significance Multiple submitters
-
ABCC2 p.Ile719Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Ile982Val
Likely benign
Multiple submitters
Dubin-Johnson syndrome
-
ABCC2 p.Leu1315Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Leu345Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ABCC2 p.Leu441Met Uncertain significance Multiple submitters
-
ABCC2 p.Leu849Arg
Benign
Multiple submitters
Dubin-Johnson syndrome
-
ABCC2 p.Leu863Pro
Uncertain significance
Multiple submitters
Dubin-Johnson syndrome
-
ABCC2 p.Lys303Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Met988Lys
Uncertain significance
Multiple submitters
Dubin-Johnson syndrome
-
ABCC2 p.Phe548Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Phe550Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ABCC2 p.Pro1291Leu Benign Multiple submitters
-
ABCC2 p.Ser1296Arg
Uncertain significance
Multiple submitters
Dubin-Johnson syndrome
-
ABCC2 p.Ser908Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Thr553Ile
Uncertain significance
Multiple submitters
Dubin-Johnson syndrome
-
ABCC2 p.Tyr217Ser
Uncertain significance
Multiple submitters
ABCC2-related disorder
-
ABCC2 p.Val1363Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Val417Ile
Benign
Multiple submitters
Dubin-Johnson syndrome
-
ABCC2 p.Val421Met
Uncertain significance
Multiple submitters
ABCC2-related disorder
-
ABCC2 p.Val469Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ABCC2 p.Val566Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ABCC2 p.Ala1175Val Uncertain significance Single submitter
-
ABCC2 p.Ala313Thr
Conflicting
Single submitter
Inborn genetic diseases
-
ABCC2 p.Ala411Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Ala44Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Ala652Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Ala702Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Ala973Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Arg100Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- ABCC2 p.Arg1100His Uncertain significance Single submitter
-
ABCC2 p.Arg1156Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Arg1174Cys
Uncertain significance
Single submitter
Dubin-Johnson syndrome
-
ABCC2 p.Arg1174His
Conflicting
Single submitter
Dubin-Johnson syndrome
- ABCC2 p.Arg1230Ser Uncertain significance Single submitter
-
ABCC2 p.Arg1289Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Arg152Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- ABCC2 p.Arg219Cys Uncertain significance Single submitter
- ABCC2 p.Arg255Trp Conflicting Single submitter
- ABCC2 p.Arg260Trp Uncertain significance Single submitter
-
ABCC2 p.Arg353Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Arg815Gln
Uncertain significance
Single submitter
Dubin-Johnson syndrome
-
ABCC2 p.Arg910His
Conflicting
Single submitter
Inborn genetic diseases
-
ABCC2 p.Arg911Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- ABCC2 p.Asn477His Uncertain significance Single submitter
-
ABCC2 p.Asp1372Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Asp523Asn
Likely benign
Single submitter
Inborn genetic diseases
-
ABCC2 p.Asp523Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- ABCC2 p.Asp876His Uncertain significance Single submitter
-
ABCC2 p.Asp942His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Cys124Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Gln1019His
Conflicting
Single submitter
Dubin-Johnson syndrome
- ABCC2 p.Gln1357His Conflicting Single submitter
- ABCC2 p.Gln175Pro Uncertain significance Single submitter
-
ABCC2 p.Glu1429Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- ABCC2 p.Glu186Gly Uncertain significance Single submitter
- ABCC2 p.Glu224Lys Uncertain significance Single submitter
-
ABCC2 p.Glu854Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- ABCC2 p.Glu881Lys Uncertain significance Single submitter
- ABCC2 p.Glu892Lys Uncertain significance Single submitter
-
ABCC2 p.Gly1048Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Gly109Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Gly1362Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Gly1362Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ABCC2 p.Gly157Val Uncertain significance Single submitter
-
ABCC2 p.Gly360Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Gly619Trp
Uncertain significance
Single submitter
Dubin-Johnson syndrome
- ABCC2 p.Gly749Val Uncertain significance Single submitter
- ABCC2 p.His1414Tyr Uncertain significance Single submitter
-
ABCC2 p.His1496Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ABCC2 p.His245Arg Uncertain significance Single submitter
-
ABCC2 p.His794Tyr
Uncertain significance
Single submitter
ABCC2-related disorder
-
ABCC2 p.Ile1080Thr
Uncertain significance
Single submitter
Dubin-Johnson syndrome
- ABCC2 p.Ile1266Val Uncertain significance Single submitter
-
ABCC2 p.Ile1365Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Ile1365Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Ile1368Thr
Conflicting
Single submitter
Dubin-Johnson syndrome
- ABCC2 p.Ile1498Met Uncertain significance Single submitter
- ABCC2 p.Ile1513Thr Uncertain significance Single submitter
-
ABCC2 p.Ile213Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Ile600Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Ile670Thr
Conflicting
Single submitter
Dubin-Johnson syndrome
- ABCC2 p.Ile781Met Uncertain significance Single submitter
- ABCC2 p.Leu1148Val Uncertain significance Single submitter
- ABCC2 p.Leu1343Phe Uncertain significance Single submitter
- ABCC2 p.Leu1347Phe Uncertain significance Single submitter
-
ABCC2 p.Leu154His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Leu155Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Leu323Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Leu37Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Leu542Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Leu659Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Leu751Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- ABCC2 p.Leu751Trp Likely benign Single submitter
-
ABCC2 p.Leu85Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ABCC2 p.Lys1195Glu Uncertain significance Single submitter
-
ABCC2 p.Lys1456Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Lys1511Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Lys534Asn
Conflicting
Single submitter
Inborn genetic diseases
- ABCC2 p.Met1258Val Uncertain significance Single submitter
-
ABCC2 p.Met1393Ile
Conflicting
Single submitter
Dubin-Johnson syndrome
-
ABCC2 p.Met1499Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ABCC2 p.Met1499Val Conflicting Single submitter
-
ABCC2 p.Met1505Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Met424Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Met432Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- ABCC2 p.Met440Arg Uncertain significance Single submitter
-
ABCC2 p.Met595Val
Uncertain significance
Single submitter
Dubin-Johnson syndrome
- ABCC2 p.Met598Val Uncertain significance Single submitter
-
ABCC2 p.Phe168Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Pro1096Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- ABCC2 p.Pro1527Leu Uncertain significance Single submitter
-
ABCC2 p.Pro519Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Ser105Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Ser182Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Ser202Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Ser582Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Ser650Leu
Likely benign
Single submitter
Inborn genetic diseases
- ABCC2 p.Ser914Asn Uncertain significance Single submitter
- ABCC2 p.Ser930Phe Uncertain significance Single submitter
- ABCC2 p.Thr1112Asn Uncertain significance Single submitter
- ABCC2 p.Thr1251Ile Uncertain significance Single submitter
-
ABCC2 p.Thr1477Met
Conflicting
Single submitter
Dubin-Johnson syndrome
-
ABCC2 p.Thr30Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ABCC2 p.Thr336Arg Uncertain significance Single submitter
-
ABCC2 p.Thr336Met
Conflicting
Single submitter
Dubin-Johnson syndrome
-
ABCC2 p.Thr486Ile
Conflicting
Single submitter
Dubin-Johnson syndrome
- ABCC2 p.Thr584Asn Uncertain significance Single submitter
-
ABCC2 p.Trp1200Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ABCC2 p.Trp46Arg Uncertain significance Single submitter
-
ABCC2 p.Tyr101Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Tyr703Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ABCC2 p.Val1091Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- ABCC2 p.Val1142Leu Uncertain significance Single submitter
All ABCC2 variants
Pathogenic 108
- p.Arg1181Ter Multiple submitters Dubin-Johnson syndrome
- p.Arg1310Ter Multiple submitters Dubin-Johnson syndrome
- p.Arg1374Ter Multiple submitters Dubin-Johnson syndrome
- p.Arg628Ter Multiple submitters Dubin-Johnson syndrome
- p.Arg815Ter Multiple submitters Dubin-Johnson syndrome
- p.Asn159fs Multiple submitters
- p.Asp1073Ter Multiple submitters Dubin-Johnson syndrome
- p.Gln1180Ter Multiple submitters
- p.Gln1194Ter Multiple submitters
- p.Gln1443Ter Multiple submitters Dubin-Johnson syndrome
- p.Ile1173Phe Multiple submitters Dubin-Johnson syndrome
- p.Ile754fs Multiple submitters
- p.Leu1213fs Multiple submitters Dubin-Johnson syndrome
- p.Leu431fs Multiple submitters
- p.Leu809fs Multiple submitters
- p.Lys1416Ter Multiple submitters
- p.Lys298fs Multiple submitters Dubin-Johnson syndrome
- p.Pro194_Ser195insTer Multiple submitters Dubin-Johnson syndrome
- p.Pro274fs Multiple submitters
- p.Ser1168fs Multiple submitters
- p.Thr1074fs Multiple submitters
- p.Trp1200Ter Multiple submitters Dubin-Johnson syndrome
- p.Tyr1141fs Multiple submitters
- p.Tyr1275Ter Multiple submitters Dubin-Johnson syndrome
- p.Tyr967Ter Multiple submitters
- c.1967+2T>C Single submitter Dubin-Johnson syndrome
- c.207+1G>A Single submitter
- c.2439+2T>C Single submitter Dubin-Johnson syndrome
- c.3258+2T>A Single submitter
- p.Ala364fs Single submitter
- p.Ala579fs Single submitter
- p.Arg100Ter Single submitter
- p.Arg655Ter Single submitter
- p.Arg905fs Single submitter
- p.Arg911Ter Single submitter
- p.Asn778fs Single submitter
- p.Asp1472fs Single submitter
- p.Asp210Ter Single submitter
- p.Asp620fs Single submitter
- p.Asp780fs Single submitter
- p.Cys1322Ter Single submitter
- p.Cys631fs Single submitter Inborn genetic diseases
- p.Cys631Ter Single submitter
- p.Gln1034fs Single submitter
- p.Gln156Ter Single submitter
- p.Gln551Ter Single submitter
- p.Gln69fs Single submitter
- p.Gln765Ter Single submitter
- p.Gln972Ter Single submitter
- p.Glu1429Ter Single submitter
- p.Glu1462fs Single submitter
- p.Glu458Ter Single submitter
- p.Glu647Ter Single submitter
- p.Gly1131fs Single submitter
- p.Gly676Arg Single submitter
- p.Gly853fs Single submitter
- p.His1178fs Single submitter
- p.His1414fs Single submitter
- p.His820fs Single submitter
- p.Ile1228_Tyr1229insTer Single submitter
- p.Ile1320fs Single submitter
- p.Ile799fs Single submitter
- p.Ile952fs Single submitter
- p.Leu1445fs Single submitter
- p.Leu552fs Single submitter
- p.Leu998fs Single submitter
- p.Lys263Ter Single submitter
- p.Lys297fs Single submitter
- p.Lys303fs Single submitter
- p.Lys312Ter Single submitter
- p.Lys860Ter Single submitter
- p.Met233fs Single submitter
- p.Phe539fs Single submitter
- p.Phe977fs Single submitter
- p.Pro1158fs Single submitter
- p.Pro787fs Single submitter
- p.Pro868fs Single submitter
- p.Ser1053Ter Single submitter
- p.Ser190Ter Single submitter
- p.Ser308fs Single submitter
- p.Ser339fs Single submitter
- p.Ser351fs Single submitter
- p.Thr1286fs Single submitter
- p.Thr775Tyrfs Single submitter
- p.Thr912_Leu913insTer Single submitter
- p.Trp1003Ter Single submitter
- p.Trp1284Ter Single submitter Dubin-Johnson syndrome
- p.Trp136Ter Single submitter
- p.Trp358Ter Single submitter
- p.Trp442Ter Single submitter
- p.Trp709Arg Single submitter
- p.Tyr1027Ter Single submitter
- p.Tyr119fs Single submitter Dubin-Johnson syndrome
- p.Tyr1401Ter Single submitter
- p.Tyr172fs Single submitter
- p.Tyr206Ter Single submitter
- p.Tyr209Ter Single submitter
- p.Tyr361fs Single submitter
- p.Tyr401_Lys402delinsTer Single submitter
- p.Tyr565Ter Single submitter
- p.Tyr776fs Single submitter
- p.Tyr970Ter Single submitter
- p.Val1197fs Single submitter
- c.1815+2T>A No assertion criteria Dubin-Johnson syndrome
- c.2273_2439+1del No assertion criteria Dubin-Johnson syndrome
- c.3615-2A>T No assertion criteria ABCC2-related disorder
- p.Gly805fs No assertion criteria ABCC2-related disorder
- p.Val338fs No assertion criteria Dubin-Johnson syndrome
Pathogenic/Likely pathogenic 24
- c.1031+4A>G Multiple submitters ABCC2-related disorder
- c.1967+1G>A Multiple submitters autosomal recessive inherited pseudoxanthoma elasticum
- c.1968-1G>C Multiple submitters
- c.3258+1G>A Multiple submitters Dubin-Johnson syndrome
- c.3415-1G>A Multiple submitters Dubin-Johnson syndrome
- c.3741+1G>A Multiple submitters Dubin-Johnson syndrome
- c.3741+1G>T Multiple submitters Dubin-Johnson syndrome
- c.576+1G>A Multiple submitters Dubin-Johnson syndrome
- p.Arg1066Ter Multiple submitters Dubin-Johnson syndrome
- p.Arg1150His Multiple submitters ABCC2-related disorder
- p.Arg1271Ter Multiple submitters Dubin-Johnson syndrome
- p.Arg393Trp Multiple submitters Dubin-Johnson syndrome
- p.Arg768Trp Multiple submitters Dubin-Johnson syndrome
- p.Asn718fs Multiple submitters Dubin-Johnson syndrome
- p.Gln1382Ter Multiple submitters ABCC2-related disorder
- p.Gln1480Ter Multiple submitters Dubin-Johnson syndrome
- p.Gln541Ter Multiple submitters Dubin-Johnson syndrome
- p.Gly270Ter Multiple submitters Dubin-Johnson syndrome
- p.Leu788fs Multiple submitters Dubin-Johnson syndrome
- p.Ser325Ter Multiple submitters ABCC2-related disorder
- p.Thr1155fs Multiple submitters
- p.Tyr52Ter Multiple submitters Dubin-Johnson syndrome
- p.Val1114fs Multiple submitters Dubin-Johnson syndrome
- p.Val667fs Multiple submitters Dubin-Johnson syndrome
Likely pathogenic 47
- c.333+1G>A Multiple submitters Dubin-Johnson syndrome
- p.Gly693Glu Multiple submitters Dubin-Johnson syndrome
- p.Met688Thr Multiple submitters Dubin-Johnson syndrome
- c.1032-2A>G Single submitter
- c.1531-2A>G Single submitter
- c.1901-1_1903del Single submitter
- c.1968-1G>A Single submitter
- c.1968-2A>C Single submitter
- c.2095-1G>A Single submitter
- c.2440-2A>G Single submitter
- c.2620+2T>C Single submitter
- c.2748-1G>T Single submitter
- c.2748-2A>C Single submitter
- c.2884-2A>G Single submitter
- c.3104-1G>A Single submitter
- c.3258+1del Single submitter
- c.3258+2T>G Single submitter
- c.3259-1G>A Single submitter
- c.33+2T>C Single submitter
- c.334-2A>G Single submitter
- c.3414_3414+1delinsAT Single submitter
- c.3414+1G>A Single submitter
- c.3614+1G>A Single submitter
- c.3614+1G>C Single submitter Dubin-Johnson syndrome
- c.3843+1G>T Single submitter Dubin-Johnson syndrome
- c.3987+1G>C Single submitter
- c.4147-2A>G Single submitter
- c.469-1G>A Single submitter
- c.469-1G>T Single submitter
- c.469-2A>G Single submitter
- c.632+2_632+5del Single submitter
- p.Asn1509fs Single submitter Dubin-Johnson syndrome
- p.Asn690fs Single submitter Dubin-Johnson syndrome
- p.Asp304fs Single submitter Dubin-Johnson syndrome
- p.Gln122Ter Single submitter Dubin-Johnson syndrome
- p.Gln1382Arg Single submitter ABCC2-related disorder
- p.Gln488Ter Single submitter Dubin-Johnson syndrome
- p.Gln543Ter Single submitter Dubin-Johnson syndrome
- p.Gly764Asp Single submitter Dubin-Johnson syndrome
- p.Lys1416fs Single submitter Dubin-Johnson syndrome
- p.Phe453fs Single submitter Dubin-Johnson syndrome
- p.Ser1342Pro Single submitter Dubin-Johnson syndrome
- p.Ser14Ter Single submitter Dubin-Johnson syndrome
- p.Thr1251fs Single submitter Dubin-Johnson syndrome
- p.Tyr1309fs Single submitter Dubin-Johnson syndrome
- c.633-1G>A No assertion criteria ABCC2-related disorder
- p.Trp999Ter No assertion criteria ABCC2-related disorder
Conflicting classifications of pathogenicity 84
- c.1032-3C>T Single submitter Dubin-Johnson syndrome
- c.1209+14G>A Single submitter Dubin-Johnson syndrome
- c.1209+15G>A Single submitter Dubin-Johnson syndrome
- c.2095-7C>T Single submitter
- c.2271+2T>C Single submitter
- c.2439+12T>C Single submitter Dubin-Johnson syndrome
- c.2439+5G>A Single submitter Dubin-Johnson syndrome
- c.2620+10_2620+12del Single submitter
- c.2747+10C>T Single submitter
- c.33+13A>G Single submitter Dubin-Johnson syndrome
- c.3614+6G>C Single submitter
- c.3742-12G>C Single submitter Dubin-Johnson syndrome
- c.3987+10G>A Single submitter
- c.3988-15G>C Single submitter Dubin-Johnson syndrome
- c.469-9T>C Single submitter
- c.577-11G>T Single submitter Dubin-Johnson syndrome
- p.Ala1119= Single submitter Dubin-Johnson syndrome
- p.Ala1175= Single submitter
- p.Ala313Thr Single submitter Inborn genetic diseases ⚠
- p.Ala370Val Single submitter Inborn genetic diseases ⚠
- p.Ala985= Single submitter Dubin-Johnson syndrome
- p.Arg1174His Single submitter Dubin-Johnson syndrome ⚠
- p.Arg1205= Single submitter Inborn genetic diseases
- p.Arg1392_Met1393del Single submitter Dubin-Johnson syndrome
- p.Arg255Trp Single submitter ⚠
- p.Arg393= Single submitter Dubin-Johnson syndrome
- p.Arg529Gln Single submitter Dubin-Johnson syndrome ⚠
- p.Arg655Gln Single submitter Inborn genetic diseases ⚠
- p.Arg905Lys Single submitter Inborn genetic diseases ⚠
- p.Arg910His Single submitter Inborn genetic diseases ⚠
- p.Asn1063Ser Single submitter Dubin-Johnson syndrome ⚠
- p.Asn1216Lys Single submitter Dubin-Johnson syndrome ⚠
- p.Asn1481= Single submitter Dubin-Johnson syndrome
- p.Asp285= Single submitter
- p.Asp333Gly Single submitter Dubin-Johnson syndrome ⚠
- p.Asp942= Single submitter
- p.Gln1019= Single submitter
- p.Gln1019His Single submitter Dubin-Johnson syndrome ⚠
- p.Gln1357His Single submitter ⚠
- p.Glu1187= Single submitter
- p.Glu871= Single submitter Dubin-Johnson syndrome
- p.Gly693Arg Single submitter Dubin-Johnson syndrome ⚠
- p.Gly758Val Single submitter Dubin-Johnson syndrome ⚠
- p.His692= Single submitter Dubin-Johnson syndrome
- p.Ile1359Leu Single submitter ABCC2-related disorder ⚠
- p.Ile1368Thr Single submitter Dubin-Johnson syndrome ⚠
- p.Ile1489_Ile1491delinsGlyProGln Single submitter Dubin-Johnson syndrome
- p.Ile212= Single submitter
- p.Ile670Thr Single submitter Dubin-Johnson syndrome ⚠
- p.Leu201= Single submitter
- p.Lys534Asn Single submitter Inborn genetic diseases ⚠
- p.Lys68Thr Single submitter Inborn genetic diseases ⚠
- p.Met1393Ile Single submitter Dubin-Johnson syndrome ⚠
- p.Met1499Val Single submitter ⚠
- p.Met246Leu Single submitter Dubin-Johnson syndrome ⚠
- p.Met320Val Single submitter Inborn genetic diseases ⚠
- p.Phe1049= Single submitter Dubin-Johnson syndrome
- p.Phe1483= Single submitter
- p.Phe71= Single submitter
- p.Pro1291= Single submitter
- p.Pro19= Single submitter Dubin-Johnson syndrome
- p.Ser1164= Single submitter Dubin-Johnson syndrome
- p.Ser202= Single submitter Dubin-Johnson syndrome
- p.Ser678= Single submitter
- p.Ser789Phe Single submitter Dubin-Johnson syndrome ⚠
- p.Thr102= Single submitter
- p.Thr110= Single submitter
- p.Thr1166= Single submitter
- p.Thr1192= Single submitter Dubin-Johnson syndrome
- p.Thr1477= Single submitter
- p.Thr1477Met Single submitter Dubin-Johnson syndrome ⚠
- p.Thr336= Single submitter Dubin-Johnson syndrome
- p.Thr336Met Single submitter Dubin-Johnson syndrome ⚠
- p.Thr486Ile Single submitter Dubin-Johnson syndrome ⚠
- p.Tyr1027= Single submitter Dubin-Johnson syndrome
- p.Tyr1309= Single submitter
- p.Val1127Ile Single submitter ⚠
- p.Val1167Ala Single submitter Dubin-Johnson syndrome ⚠
- p.Val1197= Single submitter
- p.Val1278= Single submitter Dubin-Johnson syndrome
- p.Val417Ala Single submitter Dubin-Johnson syndrome ⚠
- p.Val691= Single submitter Dubin-Johnson syndrome
- p.Val833= Single submitter
- p.Val86= Single submitter
Benign 78
- c.1669-168G>A Multiple submitters
- c.1815+27C>G Multiple submitters
- c.1815+4G>A Multiple submitters Dubin-Johnson syndrome
- c.1900+22T>C Multiple submitters
- c.1967+169C>T Multiple submitters
- c.208-89C>T Multiple submitters Dubin-Johnson syndrome
- c.2095-105T>C Multiple submitters
- c.2095-47G>A Multiple submitters
- c.2095-6A>G Multiple submitters Dubin-Johnson syndrome
- c.2621-139G>A Multiple submitters
- c.3258+56T>C Multiple submitters Dubin-Johnson syndrome
- c.334-49C>T Multiple submitters
- c.3414+117G>T Multiple submitters
- c.3615-60T>C Multiple submitters
- c.3741+154T>C Multiple submitters
- c.3742-34T>C Multiple submitters
- c.3843+124C>G Multiple submitters
- c.3844-73A>G Multiple submitters
- c.4146+11G>C Multiple submitters Dubin-Johnson syndrome
- c.4147-35G>A Multiple submitters
- c.4313+147C>G Multiple submitters
- c.4313+213G>A Multiple submitters
- c.4508+12G>A Multiple submitters Dubin-Johnson syndrome
- c.4509-90A>G Multiple submitters
- c.577-20G>A Multiple submitters
- c.867+241A>C Multiple submitters
- c.-24C>T Multiple submitters Dubin-Johnson syndrome
- c.*201C>T Multiple submitters Dubin-Johnson syndrome
- p.Gln1523Pro Multiple submitters Dubin-Johnson syndrome ⚠
- p.Glu1470= Multiple submitters Dubin-Johnson syndrome
- p.His1496= Multiple submitters Dubin-Johnson syndrome
- p.Ile1132= Multiple submitters Dubin-Johnson syndrome
- p.Ile1324= Multiple submitters Dubin-Johnson syndrome
- p.Leu1370= Multiple submitters Dubin-Johnson syndrome
- p.Leu849Arg Multiple submitters Dubin-Johnson syndrome ⚠
- p.Pro1291Leu Multiple submitters ⚠
- p.Ser978= Multiple submitters Dubin-Johnson syndrome
- p.Tyr39Phe Multiple submitters Dubin-Johnson syndrome
- p.Val1430= Multiple submitters Dubin-Johnson syndrome
- p.Val417Ile Multiple submitters Dubin-Johnson syndrome ⚠
- c.1031+288A>G Single submitter
- c.1032-14C>A Single submitter
- c.1464+11del Single submitter
- c.1531-12del Single submitter
- c.1531-12dup Single submitter
- c.1531-275T>A Single submitter
- c.1668+148A>G Single submitter
- c.1668+223C>A Single submitter
- c.1669-220A>C Single submitter
- c.1901-194del Single submitter
- c.1901-300C>A Single submitter
- c.1967+15T>C Single submitter
- c.2095-30T>A Single submitter
- c.2272-230C>T Single submitter
- c.2440-5dup Single submitter
- c.2748-13T>G Single submitter
- c.3258+271_3258+272del Single submitter
- c.3258+271_3258+272insTGTGTGT Single submitter
- c.3615-20C>T Single submitter
- c.3615-310T>C Single submitter
- c.3987+21C>T Single submitter
- c.3987+259T>C Single submitter
- c.4146+154A>G Single submitter
- c.4147-175G>C Single submitter
- c.4147-182C>G Single submitter
- c.4147-268T>C Single submitter
- c.4314-256G>A Single submitter
- c.4508+170A>G Single submitter
- c.4509-266C>A Single submitter
- c.468+13del Single submitter
- c.469-9del Single submitter
- c.576+155_576+157dup Single submitter
- c.577-12dup Single submitter
- c.633-30G>T Single submitter
- c.868-218G>T Single submitter
- c.868-9dup Single submitter
- c.-23G>A Single submitter Dubin-Johnson syndrome
- p.Tyr39= Single submitter
Benign/Likely benign 15
- c.4313+11A>C Multiple submitters Dubin-Johnson syndrome
- c.4509-9T>C Multiple submitters Dubin-Johnson syndrome
- c.867+8T>C Multiple submitters
- p.Ala1354= Multiple submitters Dubin-Johnson syndrome
- p.Arg1181Leu Multiple submitters Dubin-Johnson syndrome ⚠
- p.Arg353His Multiple submitters Dubin-Johnson syndrome
- p.Asn1509= Multiple submitters Dubin-Johnson syndrome
- p.Cys1515Tyr Multiple submitters Dubin-Johnson syndrome
- p.Gly921Ser Multiple submitters Dubin-Johnson syndrome
- p.Ile1009Thr Multiple submitters
- p.Ile1036Thr Multiple submitters Dubin-Johnson syndrome ⚠
- p.Lys495Glu Multiple submitters Dubin-Johnson syndrome
- p.Lys53= Multiple submitters Dubin-Johnson syndrome
- p.Thr1273Ala Multiple submitters Dubin-Johnson syndrome
- p.Thr482= Multiple submitters Dubin-Johnson syndrome
Likely benign 532
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala478= Multiple submitters
- p.Arg915Cys Multiple submitters Dubin-Johnson syndrome ⚠
- p.Arg934Gln Multiple submitters
- p.Gln1301= Multiple submitters
- p.Ile982Val Multiple submitters Dubin-Johnson syndrome ⚠
- p.Ser281Asn Multiple submitters Dubin-Johnson syndrome
- p.Ser938Asn Multiple submitters Dubin-Johnson syndrome
- p.Tyr1401= Multiple submitters
- c.1031+10C>T Single submitter
- c.1031+14C>A Single submitter
- c.1031+8T>C Single submitter
- c.1031+9C>G Single submitter
- c.1032-12T>C Single submitter
- c.1032-7C>G Single submitter
- c.1209+13C>T Single submitter
- c.1209+17A>C Single submitter
- c.1209+7A>G Single submitter
- c.1210-14A>C Single submitter
- c.1210-14A>G Single submitter
- c.1210-9T>G Single submitter
- c.1464+12G>C Single submitter
- c.1464+17C>G Single submitter
- c.1464+17C>T Single submitter
- c.1464+18C>T Single submitter
- c.1465-10T>C Single submitter
- c.1465-15C>T Single submitter
- c.1465-16G>T Single submitter
- c.1465-4G>T Single submitter
- c.1465-7C>G Single submitter
- c.1530+12A>G Single submitter
- c.1530+14C>T Single submitter
- c.1530+15G>A Single submitter
- c.1530+16T>C Single submitter
- c.1530+18G>C Single submitter
- c.1531-4T>C Single submitter
- c.1531-5A>T Single submitter
- c.1668+15G>A Single submitter
- c.1668+7A>T Single submitter
- c.1669-18dup Single submitter
- c.1669-18T>C Single submitter
- c.1669-19A>G Single submitter
- c.1669-19A>T Single submitter
- c.1669-20C>T Single submitter
- c.1669-7T>C Single submitter
- c.1669-8C>G Single submitter
- c.1815+14C>T Single submitter
- c.1815+19T>A Single submitter
- c.1815+7C>T Single submitter
- c.1815+8G>A Single submitter
- c.1815+9G>T Single submitter
- c.1816-12G>T Single submitter
- c.1816-15del Single submitter
- c.1816-15T>C Single submitter
- c.1816-18C>G Single submitter
- c.1816-18C>T Single submitter
- c.1816-19C>G Single submitter
- c.1900+20_1900+31del Single submitter
- c.1900+20G>T Single submitter
- c.1901-10_1901-9dup Single submitter
- c.1901-14C>T Single submitter
- c.1901-15G>A Single submitter
- c.1901-5A>C Single submitter
- c.1967+10C>G Single submitter
- c.1967+10del Single submitter
- c.1967+18C>G Single submitter
- c.1967+9C>T Single submitter
- c.1968-11C>T Single submitter
- c.1968-16C>T Single submitter
- c.207+15A>C Single submitter
- c.207+17T>A Single submitter
- c.208-11T>C Single submitter
- c.208-19G>A Single submitter
- c.208-20T>C Single submitter
- c.2094+12T>C Single submitter
- c.2094+17A>G Single submitter
- c.2094+18T>C Single submitter
- c.2094+18T>G Single submitter
- c.2094+7G>A Single submitter
- c.2095-13C>A Single submitter
- c.2095-19C>A Single submitter
- c.2271+16A>G Single submitter
- c.2271+17_2271+18insTT Single submitter
- c.2271+19G>T Single submitter
- c.2271+7G>A Single submitter
- c.2271+9G>A Single submitter
- c.2271+9G>C Single submitter
- c.2272-15T>C Single submitter
- c.2272-16T>C Single submitter
- c.2272-17A>G Single submitter
- c.2272-18A>T Single submitter
- c.2439+10C>T Single submitter
- c.2439+17C>T Single submitter
- c.2440-11T>C Single submitter
- c.2440-28_2440-24delinsCCCATATGGTGG Single submitter
- c.2440-4A>G Single submitter
- c.2620+12G>C Single submitter
- c.2620+13G>T Single submitter
- c.2620+16T>A Single submitter
- c.2620+18G>A Single submitter
- c.2620+19G>A Single submitter
- c.2620+3A>G Single submitter
- c.2621-12G>A Single submitter
- c.2621-12G>C Single submitter
- c.2621-12G>T Single submitter
- c.2621-19C>A Single submitter
- c.2621-20C>T Single submitter
- c.2747+10_2747+11insGAATAGATAGCT Single submitter
- c.2747+11_2747+14del Single submitter
- c.2747+11T>G Single submitter
- c.2747+13T>A Single submitter
- c.2747+15C>A Single submitter
- c.2747+17G>A Single submitter
- c.2747+8A>C Single submitter
- c.2748-10C>T Single submitter
- c.2748-7C>T Single submitter
- c.2883+15del Single submitter
- c.2883+7A>G Single submitter
- c.2883+8C>T Single submitter
- c.2884-12G>C Single submitter
- c.2884-14T>C Single submitter
- c.2884-16G>A Single submitter
- c.2884-18G>A Single submitter
- c.2884-19T>C Single submitter
- c.3103+10A>G Single submitter
- c.3103+11T>C Single submitter
- c.3103+17T>C Single submitter
- c.3103+19_3103+21del Single submitter
- c.3103+20C>A Single submitter
- c.3103+20C>T Single submitter
- c.3103+7C>T Single submitter
- c.3104-16C>T Single submitter
- c.3104-6C>T Single submitter
- c.3104-7T>C Single submitter
- c.3104-8A>G Single submitter
- c.3104-9C>T Single submitter
- c.3258+14G>A Single submitter
- c.3258+14G>T Single submitter
- c.3258+18T>C Single submitter
- c.3258+19G>C Single submitter
- c.3258+8T>C Single submitter
- c.3259-10G>A Single submitter
- c.3259-10G>C Single submitter
- c.33+18T>C Single submitter
- c.33+7A>T Single submitter
- c.33+9T>C Single submitter
- c.333+10A>G Single submitter
- c.333+14C>A Single submitter
- c.333+16C>T Single submitter
- c.333+9T>C Single submitter
- c.334-13A>C Single submitter
- c.334-20T>A Single submitter
- c.34-6C>T Single submitter
- c.3414+10G>A Single submitter
- c.3414+25T>C Single submitter
- c.3414+9G>A Single submitter
- c.3415-10T>C Single submitter
- c.3415-16dup Single submitter
- c.3415-17T>G Single submitter
- c.3415-19_3415-17del Single submitter
- c.3415-6G>A Single submitter
- c.3614+13C>A Single submitter
- c.3614+15G>A Single submitter
- c.3614+16G>C Single submitter
- c.3614+19A>T Single submitter
- c.3614+7C>A Single submitter
- c.3615-10_3615-6del Single submitter
- c.3615-13T>C Single submitter
- c.3615-14C>G Single submitter
- c.3615-17G>A Single submitter
- c.3615-4A>G Single submitter
- c.3741+13G>C Single submitter
- c.3741+16G>T Single submitter
- c.3741+18G>A Single submitter
- c.3742-12G>T Single submitter
- c.3742-9T>G Single submitter
- c.3843+18A>C Single submitter
- c.3987+12G>A Single submitter
- c.3987+16G>A Single submitter
- c.3987+19G>A Single submitter
- c.3988-10A>G Single submitter
- c.3988-15del Single submitter
- c.3988-4G>A Single submitter
- c.3988-4G>T Single submitter
- c.3988-5C>T Single submitter
- c.3988-9T>C Single submitter
- c.4146+15T>A Single submitter
- c.4146+16T>C Single submitter
- c.4146+20C>A Single submitter
- c.4146+8C>T Single submitter
- c.4147-11T>A Single submitter
- c.4147-15T>C Single submitter
- c.4147-20C>G Single submitter
- c.4147-20C>T Single submitter
- c.4147-7C>T Single submitter
- c.4147-9C>A Single submitter
- c.4147-9C>T Single submitter
- c.4313+10C>A Single submitter
- c.4313+16del Single submitter
- c.4313+20_4313+28del Single submitter
- c.4314-11A>G Single submitter
- c.4314-20G>T Single submitter
- c.4314-21G>A Single submitter
- c.4314-4G>C Single submitter
- c.4314-6C>T Single submitter
- c.4508+11G>T Single submitter
- c.4509-10C>G Single submitter
- c.4509-12T>C Single submitter
- c.4509-14C>T Single submitter
- c.4509-9T>G Single submitter
- c.468+12A>G Single submitter
- c.468+19G>T Single submitter
- c.468+9A>G Single submitter
- c.469-13T>C Single submitter
- c.469-14T>C Single submitter
- c.469-16G>C Single submitter
- c.469-16G>T Single submitter
- c.469-18T>C Single submitter
- c.469-20C>G Single submitter
- c.469-20C>T Single submitter
- c.469-4A>G Single submitter
- c.469-5C>T Single submitter
- c.576+20C>T Single submitter
- c.576+8T>G Single submitter
- c.577-11G>C Single submitter
- c.577-4T>G Single submitter
- c.577-8T>C Single submitter
- c.577-9G>A Single submitter
- c.632+10C>T Single submitter
- c.633-10C>G Single submitter
- c.633-13G>A Single submitter
- c.633-13G>C Single submitter
- c.633-14C>T Single submitter
- c.633-18G>A Single submitter
- c.633-4C>G Single submitter
- c.633-8T>C Single submitter
- c.867+11C>T Single submitter
- c.867+17T>C Single submitter
- c.867+9C>A Single submitter
- c.868-15T>C Single submitter
- c.868-16T>C Single submitter
- c.868-19T>G Single submitter
- c.*259G>T Single submitter Dubin-Johnson syndrome
- p.Ala1033= Single submitter
- p.Ala1052= Single submitter
- p.Ala1085= Single submitter
- p.Ala1223= Single submitter
- p.Ala1282= Single submitter
- p.Ala1353= Single submitter
- p.Ala1433= Single submitter
- p.Ala1466= Single submitter
- p.Ala1492= Single submitter
- p.Ala1535= Single submitter
- p.Ala163= Single submitter
- p.Ala198= Single submitter
- p.Ala350= Single submitter
- p.Ala370= Single submitter
- p.Ala516= Single submitter
- p.Ala606= Single submitter
- p.Ala67= Single submitter
- p.Ala793= Single submitter
- p.Ala847Thr Single submitter Inborn genetic diseases
- p.Ala850= Single submitter
- p.Ala856= Single submitter
- p.Ala94= Single submitter
- p.Arg1020= Single submitter
- p.Arg1257= Single submitter
- p.Arg1289= Single submitter
- p.Arg1310= Single submitter
- p.Arg1349= Single submitter
- p.Arg1392= Single submitter
- p.Arg1494= Single submitter
- p.Arg255= Single submitter
- p.Arg259= Single submitter
- p.Arg260= Single submitter
- p.Arg590= Single submitter
- p.Arg655= Single submitter
- p.Arg768= Single submitter
- p.Arg773= Single submitter
- p.Arg911= Single submitter
- p.Arg918= Single submitter
- p.Arg928= Single submitter
- p.Arg934= Single submitter
- p.Asn1082= Single submitter
- p.Asn1186= Single submitter
- p.Asn12= Single submitter
- p.Asn1216= Single submitter
- p.Asn1244= Single submitter
- p.Asn1253= Single submitter
- p.Asn1265= Single submitter
- p.Asn1280= Single submitter
- p.Asn1541= Single submitter
- p.Asn527= Single submitter
- p.Asn920= Single submitter
- p.Asn935= Single submitter
- p.Asn937= Single submitter
- p.Asp1021= Single submitter
- p.Asp1396= Single submitter
- p.Asp1508= Single submitter
- p.Asp22= Single submitter
- p.Asp304= Single submitter
Uncertain significance 353
Showing the top 300 by review status; the full set is in the sitemap.
- c.334-3C>T Multiple submitters
- c.4507_4508+2del Multiple submitters Dubin-Johnson syndrome
- c.577-3C>T Multiple submitters Dubin-Johnson syndrome
- p.Ala1450Ser Multiple submitters Dubin-Johnson syndrome ⚠
- p.Arg1023Ile Multiple submitters Inborn genetic diseases ⚠
- p.Arg1079Gln Multiple submitters Dubin-Johnson syndrome ⚠
- p.Arg1100Cys Multiple submitters Dubin-Johnson syndrome ⚠
- p.Arg1181Gln Multiple submitters Dubin-Johnson syndrome ⚠
- p.Arg1453Trp Multiple submitters ⚠
- p.Arg152Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg219Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg260Gln Multiple submitters ABCC2-related disorder ⚠
- p.Arg393Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg590His Multiple submitters Inborn genetic diseases ⚠
- p.Arg612Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg768Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg911Gln Multiple submitters ABCC2-related disorder ⚠
- p.Arg934Trp Multiple submitters Inborn genetic diseases ⚠
- p.Asp1021Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp1403Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Asp1461Gly Multiple submitters ⚠
- p.Asp620Glu Multiple submitters Inborn genetic diseases ⚠
- p.Cys363Tyr Multiple submitters ⚠
- p.Glu1405del Multiple submitters Dubin-Johnson syndrome
- p.Glu647Gln Multiple submitters Inborn genetic diseases ⚠
- p.Gly1028Arg Multiple submitters ABCC2-related disorder ⚠
- p.Gly1086Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly1298Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly1325Ser Multiple submitters Dubin-Johnson syndrome ⚠
- p.Gly1510Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly1516Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly173Arg Multiple submitters ABCC2-related disorder ⚠
- p.Gly835Glu Multiple submitters Inborn genetic diseases ⚠
- p.His1485Arg Multiple submitters Dubin-Johnson syndrome ⚠
- p.Ile1009Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile448Met Multiple submitters ⚠
- p.Ile719Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile759Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile769Thr Multiple submitters ⚠
- p.Leu1315Arg Multiple submitters Inborn genetic diseases ⚠
- p.Leu345Trp Multiple submitters Inborn genetic diseases ⚠
- p.Leu441Met Multiple submitters ⚠
- p.Leu537Met Multiple submitters Inborn genetic diseases ⚠
- p.Leu734Pro Multiple submitters Dubin-Johnson syndrome ⚠
- p.Leu834Pro Multiple submitters Dubin-Johnson syndrome ⚠
- p.Leu863Pro Multiple submitters Dubin-Johnson syndrome ⚠
- p.Leu971Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys303Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys698Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met988Ile Multiple submitters Inborn genetic diseases ⚠
- p.Met988Lys Multiple submitters Dubin-Johnson syndrome ⚠
- p.Phe548Leu Multiple submitters Inborn genetic diseases ⚠
- p.Phe550Val Multiple submitters Inborn genetic diseases ⚠
- p.Pro19Leu Multiple submitters Dubin-Johnson syndrome ⚠
- p.Ser1296Arg Multiple submitters Dubin-Johnson syndrome ⚠
- p.Ser1438= Multiple submitters
- p.Ser240Gly Multiple submitters ABCC2-related disorder ⚠
- p.Ser351Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser821Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser8Phe Multiple submitters Dubin-Johnson syndrome ⚠
- p.Ser908Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser919Thr Multiple submitters Dubin-Johnson syndrome ⚠
- p.Ser978Leu Multiple submitters Inborn genetic diseases ⚠
- p.Thr1004Ile Multiple submitters ⚠
- p.Thr1477Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr244Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr553Ile Multiple submitters Dubin-Johnson syndrome ⚠
- p.Trp1003Cys Multiple submitters Inborn genetic diseases ⚠
- p.Trp1003Leu Multiple submitters Dubin-Johnson syndrome ⚠
- p.Tyr217Ser Multiple submitters ABCC2-related disorder ⚠
- p.Val1050Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val1363Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val417Thr Multiple submitters
- p.Val421Met Multiple submitters ABCC2-related disorder ⚠
- p.Val469Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val566Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val70Ile Multiple submitters Inborn genetic diseases ⚠
- c.1031+5G>A Single submitter
- c.1464+4A>C Single submitter
- c.1900+3A>C Single submitter
- c.1900+5A>G Single submitter ABCC2-related disorder
- c.2439+6A>C Single submitter
- c.2748-9del Single submitter
- c.3258+2dup Single submitter
- c.4508+6T>C Single submitter
- c.-40T>C Single submitter Dubin-Johnson syndrome
- c.-43A>G Single submitter Dubin-Johnson syndrome
- c.-89G>A Single submitter Dubin-Johnson syndrome
- c.*138T>C Single submitter Dubin-Johnson syndrome
- c.*205C>T Single submitter Dubin-Johnson syndrome
- p.Ala1175Val Single submitter ⚠
- p.Ala1413Pro Single submitter Inborn genetic diseases ⚠
- p.Ala1450= Single submitter
- p.Ala1492Thr Single submitter Inborn genetic diseases ⚠
- p.Ala395Thr Single submitter ⚠
- p.Ala411= Single submitter Dubin-Johnson syndrome
- p.Ala411Pro Single submitter Inborn genetic diseases ⚠
- p.Ala44Thr Single submitter Inborn genetic diseases ⚠
- p.Ala538Val Single submitter Inborn genetic diseases ⚠
- p.Ala626Ser Single submitter ⚠
- p.Ala642Gly Single submitter Inborn genetic diseases ⚠
- p.Ala652Gly Single submitter Inborn genetic diseases ⚠
- p.Ala702Thr Single submitter Inborn genetic diseases ⚠
- p.Ala772Pro Single submitter Inborn genetic diseases ⚠
- p.Ala973Glu Single submitter Inborn genetic diseases ⚠
- p.Arg100Pro Single submitter Inborn genetic diseases ⚠
- p.Arg1100His Single submitter ⚠
- p.Arg1146Cys Single submitter ⚠
- p.Arg1146His Single submitter ⚠
- p.Arg1156Lys Single submitter Inborn genetic diseases ⚠
- p.Arg1174Cys Single submitter Dubin-Johnson syndrome ⚠
- p.Arg1210Leu Single submitter Dubin-Johnson syndrome ⚠
- p.Arg1230Ser Single submitter ⚠
- p.Arg1289Ser Single submitter Inborn genetic diseases ⚠
- p.Arg1349Thr Single submitter ⚠
- p.Arg152Gln Single submitter Inborn genetic diseases ⚠
- p.Arg219Cys Single submitter ⚠
- p.Arg219His Single submitter Dubin-Johnson syndrome ⚠
- p.Arg255Gln Single submitter Dubin-Johnson syndrome ⚠
- p.Arg260Trp Single submitter ⚠
- p.Arg353Cys Single submitter Inborn genetic diseases ⚠
- p.Arg529Trp Single submitter ⚠
- p.Arg590Ser Single submitter Inborn genetic diseases ⚠
- p.Arg768Pro Single submitter ⚠
- p.Arg815Gln Single submitter Dubin-Johnson syndrome ⚠
- p.Arg911Gly Single submitter Inborn genetic diseases ⚠
- p.Arg918Thr Single submitter ⚠
- p.Asn1204Lys Single submitter Dubin-Johnson syndrome ⚠
- p.Asn1244Lys Single submitter Dubin-Johnson syndrome ⚠
- p.Asn1303His Single submitter ⚠
- p.Asn477His Single submitter ⚠
- p.Asn632Ser Single submitter Inborn genetic diseases ⚠
- p.Asn718Ser Single submitter ⚠
- p.Asp1152Ala Single submitter Inborn genetic diseases ⚠
- p.Asp1372Asn Single submitter Inborn genetic diseases ⚠
- p.Asp1396Asn Single submitter ⚠
- p.Asp523Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp717del Single submitter
- p.Asp717Glu Single submitter ⚠
- p.Asp750His Single submitter Inborn genetic diseases ⚠
- p.Asp876His Single submitter ⚠
- p.Asp942His Single submitter Inborn genetic diseases ⚠
- p.Cys124Phe Single submitter Inborn genetic diseases ⚠
- p.Cys737Arg Single submitter ABCC2-related disorder ⚠
- p.Gln1179Glu Single submitter ⚠
- p.Gln1194Leu Single submitter Inborn genetic diseases ⚠
- p.Gln1480Arg Single submitter ⚠
- p.Gln175Pro Single submitter ⚠
- p.Gln69Pro Single submitter ⚠
- p.Gln972Lys Single submitter Inborn genetic diseases ⚠
- p.Glu1165Lys Single submitter ⚠
- p.Glu1429Lys Single submitter Inborn genetic diseases ⚠
- p.Glu1519Lys Single submitter ⚠
- p.Glu186Gly Single submitter ⚠
- p.Glu224Lys Single submitter ⚠
- p.Glu228Lys Single submitter ⚠
- p.Glu854Asp Single submitter Inborn genetic diseases ⚠
- p.Glu881Lys Single submitter ⚠
- p.Glu892Lys Single submitter ⚠
- p.Gly1048Ser Single submitter Inborn genetic diseases ⚠
- p.Gly109Arg Single submitter Inborn genetic diseases ⚠
- p.Gly1362Ala Single submitter Inborn genetic diseases ⚠
- p.Gly1362Arg Single submitter Inborn genetic diseases ⚠
- p.Gly157Val Single submitter ⚠
- p.Gly275Ser Single submitter Inborn genetic diseases ⚠
- p.Gly300Arg Single submitter Inborn genetic diseases ⚠
- p.Gly360Ala Single submitter Inborn genetic diseases ⚠
- p.Gly619Trp Single submitter Dubin-Johnson syndrome ⚠
- p.Gly674Ser Single submitter Dubin-Johnson syndrome ⚠
- p.Gly676Glu Single submitter ⚠
- p.Gly686Arg Single submitter ⚠
- p.Gly686Glu Single submitter ⚠
- p.Gly713= Single submitter
- p.Gly749Val Single submitter ⚠
- p.Gly764Ser Single submitter Inborn genetic diseases ⚠
- p.Gly808Ala Single submitter ⚠
- p.Gly808Ser Single submitter ⚠
- p.His1414Tyr Single submitter ⚠
- p.His1496Leu Single submitter Inborn genetic diseases ⚠
- p.His245Arg Single submitter ⚠
- p.His794Tyr Single submitter ABCC2-related disorder ⚠
- p.His923Gln Single submitter Inborn genetic diseases ⚠
- p.Ile1080Thr Single submitter Dubin-Johnson syndrome ⚠
- p.Ile1159Val Single submitter Inborn genetic diseases ⚠
- p.Ile1266Val Single submitter ⚠
- p.Ile1272Thr Single submitter Dubin-Johnson syndrome ⚠
- p.Ile1360Thr Single submitter ⚠
- p.Ile1365Thr Single submitter Inborn genetic diseases ⚠
- p.Ile1365Val Single submitter Inborn genetic diseases ⚠
- p.Ile1380_Pro1381insIle Single submitter Dubin-Johnson syndrome
- p.Ile1439Met Single submitter ⚠
- p.Ile1489Ser Single submitter Inborn genetic diseases ⚠
- p.Ile1489Thr Single submitter ⚠
- p.Ile1498Met Single submitter ⚠
- p.Ile1512fs Single submitter
- p.Ile1513Thr Single submitter ⚠
- p.Ile178Thr Single submitter Inborn genetic diseases ⚠
- p.Ile213Asn Single submitter Inborn genetic diseases ⚠
- p.Ile334Val Single submitter Inborn genetic diseases ⚠
- p.Ile452Val Single submitter Inborn genetic diseases ⚠
- p.Ile479Val Single submitter ⚠
- p.Ile600Thr Single submitter Inborn genetic diseases ⚠
- p.Ile661Val Single submitter ⚠
- p.Ile754Asn Single submitter Dubin-Johnson syndrome ⚠
- p.Ile781Met Single submitter ⚠
- p.Ile831Thr Single submitter ⚠
- p.Ile974Met Single submitter ⚠
- p.Leu1095Arg Single submitter Inborn genetic diseases ⚠
- p.Leu1148Val Single submitter ⚠
- p.Leu1183Met Single submitter ⚠
- p.Leu1343Phe Single submitter ⚠
- p.Leu1347Phe Single submitter ⚠
- p.Leu1347Pro Single submitter ABCC2-related disorder ⚠
- p.Leu1370Phe Single submitter ⚠
- p.Leu1521fs Single submitter
- p.Leu154His Single submitter Inborn genetic diseases ⚠
- p.Leu155Ser Single submitter Inborn genetic diseases ⚠
- p.Leu310Trp Single submitter Dubin-Johnson syndrome ⚠
- p.Leu323Pro Single submitter Inborn genetic diseases ⚠
- p.Leu362Pro Single submitter ⚠
- p.Leu37Val Single submitter Inborn genetic diseases ⚠
- p.Leu441= Single submitter
- p.Leu480Pro Single submitter ⚠
- p.Leu537Pro Single submitter ⚠
- p.Leu542Arg Single submitter Inborn genetic diseases ⚠
- p.Leu622= Single submitter
- p.Leu659Val Single submitter Inborn genetic diseases ⚠
- p.Leu751Phe Single submitter Inborn genetic diseases ⚠
- p.Leu76del Single submitter
- p.Leu771Pro Single submitter Dubin-Johnson syndrome ⚠
- p.Leu85Val Single submitter Inborn genetic diseases ⚠
- p.Leu939Pro Single submitter Inborn genetic diseases ⚠
- p.Lys1008Thr Single submitter Inborn genetic diseases ⚠
- p.Lys1195Glu Single submitter ⚠
- p.Lys1340Arg Single submitter Inborn genetic diseases ⚠
- p.Lys1340Glu Single submitter ABCC2-related disorder ⚠
- p.Lys1456Glu Single submitter Inborn genetic diseases ⚠
- p.Lys1511Glu Single submitter Inborn genetic diseases ⚠
- p.Lys387Arg Single submitter Inborn genetic diseases ⚠
- p.Lys497Thr Single submitter Inborn genetic diseases ⚠
- p.Lys57Arg Single submitter Dubin-Johnson syndrome ⚠
- p.Lys766Gln Single submitter Dubin-Johnson syndrome ⚠
- p.Lys813Asn Single submitter Dubin-Johnson syndrome ⚠
- p.Lys860Arg Single submitter Inborn genetic diseases ⚠
- p.Lys940Gln Single submitter Inborn genetic diseases ⚠
- p.Lys961= Single submitter
- p.Met1118Ile Single submitter Inborn genetic diseases ⚠
- p.Met1139Ile Single submitter Dubin-Johnson syndrome ⚠
- p.Met1258Val Single submitter ⚠
- p.Met1327Arg Single submitter Inborn genetic diseases ⚠
- p.Met1499Arg Single submitter Inborn genetic diseases ⚠
- p.Met1505Ile Single submitter Inborn genetic diseases ⚠
- p.Met246Ile Single submitter Inborn genetic diseases ⚠
- p.Met424Ile Single submitter Inborn genetic diseases ⚠
- p.Met432Lys Single submitter Inborn genetic diseases ⚠
- p.Met438Val Single submitter Dubin-Johnson syndrome ⚠
- p.Met440Arg Single submitter ⚠
- p.Met470delinsLeuVal Single submitter
- p.Met492Thr Single submitter ⚠
- p.Met595Val Single submitter Dubin-Johnson syndrome ⚠
- p.Met598Val Single submitter ⚠
- p.Phe1072Ser Single submitter Dubin-Johnson syndrome ⚠
- p.Phe1176Ser Single submitter Inborn genetic diseases ⚠
- p.Phe135Leu Single submitter Inborn genetic diseases ⚠
- p.Phe1387Leu Single submitter ⚠
- p.Phe1387Ser Single submitter ⚠
- p.Phe1483Val Single submitter Dubin-Johnson syndrome ⚠
- p.Phe168Val Single submitter Inborn genetic diseases ⚠
- p.Phe824= Single submitter
- p.Phe824Ser Single submitter ABCC2-related disorder ⚠
- p.Phe981Ser Single submitter ⚠
- p.Pro1096Ala Single submitter Inborn genetic diseases ⚠
- p.Pro1096Leu Single submitter Dubin-Johnson syndrome ⚠
- p.Pro1397Leu Single submitter ⚠
- p.Pro1527= Single submitter
- p.Pro1527Leu Single submitter ⚠
- p.Pro36= Single submitter Dubin-Johnson syndrome
- p.Pro45Ser Single submitter ⚠
- p.Pro519Thr Single submitter Inborn genetic diseases ⚠
- p.Pro592Leu Single submitter Dubin-Johnson syndrome ⚠
- p.Pro868Thr Single submitter Inborn genetic diseases ⚠
- p.Ser1001Ile Single submitter Inborn genetic diseases ⚠
- p.Ser105Arg Single submitter Inborn genetic diseases ⚠
- p.Ser1101Thr Single submitter Inborn genetic diseases ⚠
- p.Ser1342Tyr Single submitter Dubin-Johnson syndrome ⚠
- p.Ser139Leu Single submitter Inborn genetic diseases ⚠
- p.Ser139Pro Single submitter Dubin-Johnson syndrome ⚠
- p.Ser182Ala Single submitter Inborn genetic diseases ⚠
- p.Ser202Asn Single submitter Inborn genetic diseases ⚠
- p.Ser351Arg Single submitter Inborn genetic diseases ⚠
- p.Ser582Thr Single submitter Inborn genetic diseases ⚠
- p.Ser679Phe Single submitter Inborn genetic diseases ⚠
- p.Ser762Asn Single submitter ⚠
- p.Ser789= Single submitter
- p.Ser890Asn Single submitter ⚠
- p.Ser914Asn Single submitter ⚠
- p.Ser916Gly Single submitter Inborn genetic diseases ⚠
- p.Ser930Phe Single submitter ⚠
- p.Thr1112Asn Single submitter ⚠
- p.Thr1192Asn Single submitter Inborn genetic diseases ⚠