Sugi Variant

Sugi Variant/ABCB11

ABCB11 — 2094 ClinVar variants

All ClinVar germline ABCB11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 707 flagged for review →

172 Pathogenic · 77 Pathogenic/Likely pathogenic · 125 Likely pathogenic · 167 Conflicting · 133 Benign · 15 Benign/Likely benign · 742 Likely benign · 663 Uncertain significance

Full ABCB11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 707

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 12

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

Predictors agree, ClinVar conflicts 62

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

Predictors lean, ClinVar uncertain 338

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 338

Predictors split 295

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 295

All ABCB11 variants

Pathogenic 172

Pathogenic/Likely pathogenic 77

  • c.1198-1G>C Multiple submitters benign recurrent intrahepatic cholestasis type 2
  • c.1435-2A>T Multiple submitters benign recurrent intrahepatic cholestasis type 2
  • c.150+1G>A Multiple submitters benign recurrent intrahepatic cholestasis type 2
  • c.150+2T>C Multiple submitters progressive familial intrahepatic cholestasis type 2
  • c.150+3A>C Multiple submitters familial intrahepatic cholestasis
  • c.1810-1G>A Multiple submitters progressive familial intrahepatic cholestasis type 2
  • c.2012-8T>G Multiple submitters progressive familial intrahepatic cholestasis
  • c.2178+2T>C Multiple submitters familial intrahepatic cholestasis
  • c.2179-2A>G Multiple submitters progressive familial intrahepatic cholestasis type 2
  • c.2343+1G>C Multiple submitters benign recurrent intrahepatic cholestasis type 2
  • c.2343+1G>T Multiple submitters familial intrahepatic cholestasis
  • c.2343+2T>C Multiple submitters familial intrahepatic cholestasis
  • c.2815-2A>G Multiple submitters benign recurrent intrahepatic cholestasis type 2
  • c.2815-8A>G Multiple submitters progressive familial intrahepatic cholestasis type 2
  • c.390-1G>T Multiple submitters benign recurrent intrahepatic cholestasis type 2
  • c.908+1G>C Multiple submitters familial intrahepatic cholestasis
  • c.98+1G>A Multiple submitters familial intrahepatic cholestasis
  • p.Ala167Thr Multiple submitters benign recurrent intrahepatic cholestasis type 2 ⚠
  • p.Ala570Thr Multiple submitters progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Ala588Val Multiple submitters benign recurrent intrahepatic cholestasis type 2
  • p.Arg1090Ter Multiple submitters progressive familial intrahepatic cholestasis type 2
  • p.Arg1128Gly Multiple submitters familial intrahepatic cholestasis
  • p.Arg1153Cys Multiple submitters progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Arg1153His Multiple submitters familial intrahepatic cholestasis
  • p.Arg1231Trp Multiple submitters progressive familial intrahepatic cholestasis type 2
  • p.Arg1268Gln Multiple submitters familial intrahepatic cholestasis ⚠
  • p.Arg1268Trp Multiple submitters familial intrahepatic cholestasis
  • p.Arg470Gln Multiple submitters progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Arg487His Multiple submitters ABCB11-related disorder ⚠
  • p.Arg487Pro Multiple submitters familial intrahepatic cholestasis
  • p.Arg517His Multiple submitters familial intrahepatic cholestasis ⚠
  • p.Arg832Cys Multiple submitters progressive familial intrahepatic cholestasis
  • p.Arg8Ter Multiple submitters familial intrahepatic cholestasis
  • p.Arg948Cys Multiple submitters benign recurrent intrahepatic cholestasis type 2 ⚠
  • p.Asn199fs Multiple submitters familial intrahepatic cholestasis
  • p.Asp473fs Multiple submitters progressive familial intrahepatic cholestasis type 2
  • p.Asp848fs Multiple submitters benign recurrent intrahepatic cholestasis type 2
  • p.Cys129Tyr Multiple submitters familial intrahepatic cholestasis
  • p.Gln1258Ter Multiple submitters familial intrahepatic cholestasis
  • p.Gln222Ter Multiple submitters progressive familial intrahepatic cholestasis type 2
  • p.Gln469Ter Multiple submitters progressive familial intrahepatic cholestasis type 2
  • p.Gln546Ter Multiple submitters benign recurrent intrahepatic cholestasis type 2
  • p.Gln702Ter Multiple submitters progressive familial intrahepatic cholestasis type 2
  • p.Glu135Lys Multiple submitters benign recurrent intrahepatic cholestasis type 2 ⚠
  • p.Gly1004Asp Multiple submitters progressive familial intrahepatic cholestasis type 2
  • p.Gly260Asp Multiple submitters progressive familial intrahepatic cholestasis type 2
  • p.Gly296fs Multiple submitters benign recurrent intrahepatic cholestasis type 2
  • p.Gly344fs Multiple submitters benign recurrent intrahepatic cholestasis type 2
  • p.Gly477Ter Multiple submitters benign recurrent intrahepatic cholestasis type 2
  • p.Gly562Asp Multiple submitters benign recurrent intrahepatic cholestasis type 2
  • p.Gly766Arg Multiple submitters progressive familial intrahepatic cholestasis
  • p.His717fs Multiple submitters benign recurrent intrahepatic cholestasis type 2
  • p.Ile320fs Multiple submitters progressive familial intrahepatic cholestasis
  • p.Ile498Thr Multiple submitters progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Ile541Leu Multiple submitters benign recurrent intrahepatic cholestasis type 2 ⚠
  • p.Ile541Thr Multiple submitters benign recurrent intrahepatic cholestasis type 2
  • p.Leu1219_Ser1220insTer Multiple submitters progressive familial intrahepatic cholestasis type 2
  • p.Leu131Ter Multiple submitters benign recurrent intrahepatic cholestasis type 2
  • p.Leu232fs Multiple submitters familial intrahepatic cholestasis
  • p.Lys461Glu Multiple submitters familial intrahepatic cholestasis
  • p.Phe774fs Multiple submitters progressive familial intrahepatic cholestasis type 2
  • p.Pro1091fs Multiple submitters progressive familial intrahepatic cholestasis type 2
  • p.Ser22Ter Multiple submitters benign recurrent intrahepatic cholestasis type 2
  • p.Ser457fs Multiple submitters progressive familial intrahepatic cholestasis type 2
  • p.Ser55Ter Multiple submitters progressive familial intrahepatic cholestasis type 2
  • p.Ser56Ter Multiple submitters progressive familial intrahepatic cholestasis type 2
  • p.Thr1210Pro Multiple submitters progressive familial intrahepatic cholestasis type 2
  • p.Thr1269fs Multiple submitters benign recurrent intrahepatic cholestasis type 2
  • p.Trp330Ter Multiple submitters familial intrahepatic cholestasis
  • p.Trp752Ter Multiple submitters progressive familial intrahepatic cholestasis type 2
  • p.Trp898Ter Multiple submitters progressive familial intrahepatic cholestasis type 2
  • p.Tyr1208Ter Multiple submitters progressive familial intrahepatic cholestasis type 2
  • p.Tyr343Ter Multiple submitters benign recurrent intrahepatic cholestasis type 2
  • p.Tyr472Cys Multiple submitters benign recurrent intrahepatic cholestasis type 2
  • p.Tyr772Ter Multiple submitters progressive familial intrahepatic cholestasis type 2
  • p.Val1257fs Multiple submitters familial intrahepatic cholestasis
  • p.Val597fs Multiple submitters progressive familial intrahepatic cholestasis type 2

Likely pathogenic 125

  • c.1198-2A>C Multiple submitters progressive familial intrahepatic cholestasis type 2
  • c.1638+1G>C Multiple submitters progressive familial intrahepatic cholestasis type 2
  • c.2011+1G>T Multiple submitters benign recurrent intrahepatic cholestasis type 2
  • c.3412-1G>A Multiple submitters benign recurrent intrahepatic cholestasis type 2
  • c.477+1G>A Multiple submitters benign recurrent intrahepatic cholestasis type 2
  • c.77-2A>G Multiple submitters progressive familial intrahepatic cholestasis type 2
  • p.Ala570Val Multiple submitters benign recurrent intrahepatic cholestasis type 2
  • p.Arg1001= Multiple submitters benign recurrent intrahepatic cholestasis type 2
  • p.Arg1231Gly Multiple submitters progressive familial intrahepatic cholestasis type 2
  • p.Arg487Cys Multiple submitters benign recurrent intrahepatic cholestasis type 2 ⚠
  • p.Arg517Cys Multiple submitters progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Arg948His Multiple submitters progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Asn515Asp Multiple submitters familial intrahepatic cholestasis
  • p.Asn515Thr Multiple submitters familial intrahepatic cholestasis
  • p.Cys107Arg Multiple submitters familial intrahepatic cholestasis
  • p.Gln659Ter Multiple submitters progressive familial intrahepatic cholestasis
  • p.Glu636Gly Multiple submitters familial intrahepatic cholestasis
  • p.Gly1032Arg Multiple submitters progressive familial intrahepatic cholestasis type 2
  • p.Gly1267fs Multiple submitters familial intrahepatic cholestasis
  • p.Phe266fs Multiple submitters progressive familial intrahepatic cholestasis type 2
  • p.Phe811fs Multiple submitters benign recurrent intrahepatic cholestasis type 2
  • p.Pro378fs Multiple submitters progressive familial intrahepatic cholestasis type 2
  • p.Ser901Arg Multiple submitters progressive familial intrahepatic cholestasis type 2
  • p.Ser901Ile Multiple submitters benign recurrent intrahepatic cholestasis type 2
  • p.Thr463Ile Multiple submitters benign recurrent intrahepatic cholestasis type 2
  • c.1083+2T>C Single submitter
  • c.1190_1197+15del Single submitter
  • c.1197+1del Single submitter progressive familial intrahepatic cholestasis type 2
  • c.1308+1G>A Single submitter progressive familial intrahepatic cholestasis type 2
  • c.1435-17_1450dup Single submitter familial intrahepatic cholestasis
  • c.1435-1G>A Single submitter
  • c.150+3A>G Single submitter familial intrahepatic cholestasis
  • c.151-1G>A Single submitter benign recurrent intrahepatic cholestasis type 2
  • c.151-2A>G Single submitter
  • c.1639-1G>A Single submitter familial intrahepatic cholestasis
  • c.1810-2A>C Single submitter progressive familial intrahepatic cholestasis type 2
  • c.2075+2T>C Single submitter progressive familial intrahepatic cholestasis
  • c.2076-1G>A Single submitter progressive familial intrahepatic cholestasis type 2
  • c.2076-2A>G Single submitter progressive familial intrahepatic cholestasis type 2
  • c.2179-1G>A Single submitter progressive familial intrahepatic cholestasis type 2
  • c.2449-1G>A Single submitter
  • c.2611-2A>G Single submitter
  • c.2815-1G>A Single submitter familial intrahepatic cholestasis
  • c.3056+1G>A Single submitter
  • c.3056+1G>T Single submitter progressive familial intrahepatic cholestasis type 2
  • c.3214-2A>G Single submitter progressive familial intrahepatic cholestasis type 2
  • c.3412-1G>T Single submitter progressive familial intrahepatic cholestasis type 2
  • c.477+1G>C Single submitter progressive familial intrahepatic cholestasis type 2
  • c.477+5G>A Single submitter familial intrahepatic cholestasis
  • c.612-15_612-6del Single submitter familial intrahepatic cholestasis
  • c.76+2T>G Single submitter
  • c.77-1G>C Single submitter familial intrahepatic cholestasis
  • c.77-2A>C Single submitter familial intrahepatic cholestasis
  • c.783+1G>A Single submitter progressive familial intrahepatic cholestasis type 2
  • c.784-1G>C Single submitter
  • c.784-1G>T Single submitter benign recurrent intrahepatic cholestasis type 2
  • c.907_908+9del Single submitter
  • c.98+2T>C Single submitter benign recurrent intrahepatic cholestasis type 2
  • c.98+5G>T Single submitter
  • c.99-2A>T Single submitter benign recurrent intrahepatic cholestasis type 2
  • c.-24C>A Single submitter familial intrahepatic cholestasis
  • p.Ala106fs Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Ala1192fs Single submitter familial intrahepatic cholestasis
  • p.Arg1001Ter Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Arg1153Leu Single submitter familial intrahepatic cholestasis
  • p.Arg1226fs Single submitter
  • p.Arg1231Leu Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Arg1268Pro Single submitter familial intrahepatic cholestasis
  • p.Arg495Ile Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Arg566fs Single submitter benign recurrent intrahepatic cholestasis type 2
  • p.Asn515fs Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Asp215fs Single submitter benign recurrent intrahepatic cholestasis type 2
  • p.Gln1053fs Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Gln1075fs Single submitter benign recurrent intrahepatic cholestasis type 2
  • p.Gln1107fs Single submitter benign recurrent intrahepatic cholestasis type 2
  • p.Gln222fs Single submitter benign recurrent intrahepatic cholestasis type 2
  • p.Gln563Ter Single submitter benign recurrent intrahepatic cholestasis type 2
  • p.Gln662fs Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Gln662Ter Single submitter benign recurrent intrahepatic cholestasis type 2
  • p.Glu521fs Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Glu630Ter Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Glu636Lys Single submitter
  • p.Glu666Ter Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Gly1116fs Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Gly1141Val Single submitter progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Gly1292Glu Single submitter benign recurrent intrahepatic cholestasis type 2
  • p.Gly1298Arg Single submitter familial intrahepatic cholestasis
  • p.Gly374Ser Single submitter familial intrahepatic cholestasis ⚠
  • p.Gly761fs Single submitter benign recurrent intrahepatic cholestasis type 2
  • p.Ile1078Asn Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Ile541Met Single submitter familial intrahepatic cholestasis ⚠
  • p.Leu1006Ter Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Leu1165del Single submitter familial intrahepatic cholestasis
  • p.Leu1249Ter Single submitter familial intrahepatic cholestasis
  • p.Leu61fs Single submitter benign recurrent intrahepatic cholestasis type 2
  • p.Leu861fs Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Lys1119Glu Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Lys1193fs Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Lys578fs Single submitter
  • p.Met1Leu Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Phe1080fs Single submitter
  • p.Phe682fs Single submitter benign recurrent intrahepatic cholestasis type 2
  • p.Phe896fs Single submitter benign recurrent intrahepatic cholestasis type 2
  • p.Phe971fs Single submitter benign recurrent intrahepatic cholestasis type 2
  • p.Pro1205fs Single submitter familial intrahepatic cholestasis
  • p.Ser32Ter Single submitter familial intrahepatic cholestasis
  • p.Ser901Asn Single submitter
  • p.Thr681fs Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Thr812fs Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Trp163Ter Single submitter benign recurrent intrahepatic cholestasis type 2
  • p.Trp314Ter Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Tyr1002Ter Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Tyr1041Ter Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Tyr145fs Single submitter benign recurrent intrahepatic cholestasis type 2
  • p.Tyr145Ter Single submitter benign recurrent intrahepatic cholestasis type 2
  • p.Tyr269Ter Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Tyr274Ter Single submitter benign recurrent intrahepatic cholestasis type 2
  • p.Tyr705Ter Single submitter benign recurrent intrahepatic cholestasis type 2
  • p.Tyr981Ter Single submitter benign recurrent intrahepatic cholestasis type 2
  • p.Val1293fs Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Val284Leu Single submitter familial intrahepatic cholestasis
  • p.Val368Ter Single submitter progressive familial intrahepatic cholestasis type 2
  • c.1296_1308del13 No assertion criteria ABCB11-related disorder
  • p.Leu905Ter No assertion criteria ABCB11-related disorder
  • p.Trp239Ter No assertion criteria ABCB11-related disorder

Conflicting classifications of pathogenicity 167

  • c.1197+13C>T Single submitter progressive familial intrahepatic cholestasis type 2
  • c.1434+14A>G Single submitter progressive familial intrahepatic cholestasis type 2
  • c.1435-11A>G Single submitter progressive familial intrahepatic cholestasis type 2
  • c.1435-13_1435-8del Single submitter familial intrahepatic cholestasis
  • c.2011+1G>C Single submitter progressive familial intrahepatic cholestasis type 2
  • c.2075+7T>A Single submitter progressive familial intrahepatic cholestasis type 2
  • c.2611-2A>T Single submitter progressive familial intrahepatic cholestasis type 2
  • c.3057-12G>A Single submitter progressive familial intrahepatic cholestasis type 2
  • c.3214-6C>G Single submitter ABCB11-related disorder
  • c.3411+10G>A Single submitter progressive familial intrahepatic cholestasis type 2
  • c.3411+9C>T Single submitter benign recurrent intrahepatic cholestasis type 2
  • c.3412-7T>C Single submitter
  • c.3766-10C>T Single submitter progressive familial intrahepatic cholestasis type 2
  • c.477+8G>T Single submitter progressive familial intrahepatic cholestasis type 2
  • c.611+2dup Single submitter progressive familial intrahepatic cholestasis type 2
  • c.76+1G>A Single submitter progressive familial intrahepatic cholestasis type 2
  • c.76+29T>G Single submitter progressive familial intrahepatic cholestasis type 2
  • c.77-8del Single submitter
  • c.908+5G>A Single submitter familial intrahepatic cholestasis
  • p.Ala1028Val Single submitter familial intrahepatic cholestasis ⚠
  • p.Ala1110Glu Single submitter familial intrahepatic cholestasis ⚠
  • p.Ala1232Asp Single submitter familial intrahepatic cholestasis ⚠
  • p.Ala523Gly Single submitter progressive familial intrahepatic cholestasis ⚠
  • p.Ala535Asp Single submitter progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Ala570Ser Single submitter familial intrahepatic cholestasis ⚠
  • p.Ala585Asp Single submitter Inborn genetic diseases ⚠
  • p.Ala588Gly Single submitter progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Ala588Pro Single submitter familial intrahepatic cholestasis ⚠
  • p.Ala663Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala679Val Single submitter progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Ala693Pro Single submitter benign recurrent intrahepatic cholestasis type 2 ⚠
  • p.Ala819= Single submitter
  • p.Ala872= Single submitter
  • p.Ala962= Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Arg1128His Single submitter familial intrahepatic cholestasis ⚠
  • p.Arg1128Pro Single submitter familial intrahepatic cholestasis ⚠
  • p.Arg1128Ser Single submitter progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Arg1153Pro Single submitter progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Arg1226Cys Single submitter benign recurrent intrahepatic cholestasis type 2 ⚠
  • p.Arg128His Single submitter familial intrahepatic cholestasis ⚠
  • p.Arg169His Single submitter progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Arg223Cys Single submitter familial intrahepatic cholestasis ⚠
  • p.Arg237= Single submitter
  • p.Arg299Lys Single submitter familial intrahepatic cholestasis ⚠
  • p.Arg313His Single submitter Inborn genetic diseases ⚠
  • p.Arg387His Single submitter benign recurrent intrahepatic cholestasis type 2 ⚠
  • p.Arg432Thr Single submitter familial intrahepatic cholestasis ⚠
  • p.Arg470Leu Single submitter progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Arg487Leu Single submitter familial intrahepatic cholestasis ⚠
  • p.Arg52Trp Single submitter familial intrahepatic cholestasis ⚠
  • p.Arg571Gly Single submitter progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Arg571Thr Single submitter progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Arg616His Single submitter benign recurrent intrahepatic cholestasis type 2 ⚠
  • p.Arg646Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg696Gln Single submitter benign recurrent intrahepatic cholestasis type 2 ⚠
  • p.Arg696Trp Single submitter familial intrahepatic cholestasis ⚠
  • p.Arg830= Single submitter
  • p.Arg832His Single submitter progressive familial intrahepatic cholestasis ⚠
  • p.Arg8Gln Single submitter ⚠
  • p.Arg928Gln Single submitter progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Arg958Gln Single submitter familial intrahepatic cholestasis ⚠
  • p.Asn1211= Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Asn1211Asp Single submitter progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Asn442Tyr Single submitter Inborn genetic diseases ⚠
  • p.Asn536= Single submitter
  • p.Asn885= Single submitter
  • p.Asn996= Single submitter
  • p.Asp1082= Single submitter
  • p.Asp1131Val Single submitter progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Asp1243Gly Single submitter familial intrahepatic cholestasis ⚠
  • p.Asp482Asn Single submitter ⚠
  • p.Asp496Val Single submitter benign recurrent intrahepatic cholestasis type 2 ⚠
  • p.Asp549= Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Asp58= Single submitter familial intrahepatic cholestasis
  • p.Asp88Val Single submitter progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Asp94Asn Single submitter familial intrahepatic cholestasis ⚠
  • p.Cys68Tyr Single submitter progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Gln121Lys Single submitter familial intrahepatic cholestasis ⚠
  • p.Gln159= Single submitter familial intrahepatic cholestasis
  • p.Gln312His Single submitter familial intrahepatic cholestasis ⚠
  • p.Gln466Lys Single submitter progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Gln778Glu Single submitter Inborn genetic diseases ⚠
  • p.Gln976Arg Single submitter familial intrahepatic cholestasis ⚠
  • p.Glu1223Asp Single submitter benign recurrent intrahepatic cholestasis type 2 ⚠
  • p.Glu137Lys Single submitter familial intrahepatic cholestasis ⚠
  • p.Glu16= Single submitter
  • p.Glu21Lys Single submitter progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Glu270= Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Glu636Val Single submitter familial intrahepatic cholestasis ⚠
  • p.Glu709Lys Single submitter benign recurrent intrahepatic cholestasis type 2 ⚠
  • p.Glu734Asp Single submitter progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Gly1213Arg Single submitter familial intrahepatic cholestasis ⚠
  • p.Gly238Val Single submitter benign recurrent intrahepatic cholestasis type 2 ⚠
  • p.Gly352Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly418= Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Gly758Arg Single submitter progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Gly806= Single submitter benign recurrent intrahepatic cholestasis type 2
  • p.Gly817= Single submitter familial intrahepatic cholestasis
  • p.Gly841= Single submitter
  • p.Gly84Asp Single submitter progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Gly855= Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Gly873Ser Single submitter familial intrahepatic cholestasis ⚠
  • p.Gly877Arg Single submitter benign recurrent intrahepatic cholestasis type 2 ⚠
  • p.His423Arg Single submitter familial intrahepatic cholestasis ⚠
  • p.His72= Single submitter
  • p.Ile112Val Single submitter familial intrahepatic cholestasis ⚠
  • p.Ile1183Thr Single submitter familial intrahepatic cholestasis ⚠
  • p.Ile420Asn Single submitter familial intrahepatic cholestasis ⚠
  • p.Ile420Thr Single submitter progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Ile468= Single submitter
  • p.Ile512Thr Single submitter familial intrahepatic cholestasis ⚠
  • p.Ile876= Single submitter
  • p.Leu1055Pro Single submitter familial intrahepatic cholestasis ⚠
  • p.Leu1241Pro Single submitter familial intrahepatic cholestasis ⚠
  • p.Leu232= Single submitter familial intrahepatic cholestasis
  • p.Leu233Ser Single submitter benign recurrent intrahepatic cholestasis type 2 ⚠
  • p.Leu241= Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Leu371= Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Leu489Val Single submitter Inborn genetic diseases ⚠
  • p.Leu50Ser Single submitter familial intrahepatic cholestasis ⚠
  • p.Leu933= Single submitter
  • p.Lys1070fs Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Lys1136Arg Single submitter ⚠
  • p.Lys1175Thr Single submitter progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Lys603= Single submitter progressive familial intrahepatic cholestasis
  • p.Lys969= Single submitter familial intrahepatic cholestasis
  • p.Met1171Thr Single submitter progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Met1Val Single submitter familial intrahepatic cholestasis
  • p.Met450Ile Single submitter ⚠
  • p.Met450Thr Single submitter Inborn genetic diseases ⚠
  • p.Met839Val Single submitter familial intrahepatic cholestasis ⚠
  • p.Met86Lys Single submitter progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Phe310= Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Phe383_Ala389del Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Phe427= Single submitter familial intrahepatic cholestasis
  • p.Pro970Ser Single submitter ⚠
  • p.Ser1027Arg Single submitter progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Ser1154Pro Single submitter progressive familial intrahepatic cholestasis ⚠
  • p.Ser1321Asn Single submitter familial intrahepatic cholestasis ⚠
  • p.Ser136= Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Ser226Leu Single submitter benign recurrent intrahepatic cholestasis type 2 ⚠
  • p.Ser462Arg Single submitter familial intrahepatic cholestasis ⚠
  • p.Ser56Leu Single submitter familial intrahepatic cholestasis ⚠
  • p.Ser699Pro Single submitter familial intrahepatic cholestasis ⚠
  • p.Ser701Pro Single submitter progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Ser874Pro Single submitter familial intrahepatic cholestasis ⚠
  • p.Thr1210Ser Single submitter progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Thr1256= Single submitter
  • p.Thr1299fs Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Thr1316fs Single submitter familial intrahepatic cholestasis
  • p.Thr227= Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Thr510= Single submitter familial intrahepatic cholestasis
  • p.Tyr1208Cys Single submitter progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Tyr157Cys Single submitter familial intrahepatic cholestasis ⚠
  • p.Tyr354= Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Tyr721= Single submitter progressive familial intrahepatic cholestasis type 2
  • p.Tyr818Phe Single submitter familial intrahepatic cholestasis ⚠
  • p.Tyr93= Single submitter familial intrahepatic cholestasis
  • p.Val1020= Single submitter
  • p.Val1212Phe Single submitter familial intrahepatic cholestasis ⚠
  • p.Val284Ala Single submitter familial intrahepatic cholestasis ⚠
  • p.Val43Ile Single submitter familial intrahepatic cholestasis ⚠
  • p.Val481Glu Single submitter familial intrahepatic cholestasis ⚠
  • p.Val481Met Single submitter familial intrahepatic cholestasis ⚠
  • p.Val79Glu Single submitter ⚠
  • p.Val79Met Single submitter progressive familial intrahepatic cholestasis type 2 ⚠
  • p.Val95Ile Single submitter ABCB11-related disorder ⚠

Benign 133

Benign/Likely benign 15

  • c.1639-4C>G Multiple submitters
  • c.2611-25G>A Multiple submitters familial intrahepatic cholestasis
  • c.77-16dup Multiple submitters progressive familial intrahepatic cholestasis type 2
  • p.Ala1110= Multiple submitters progressive familial intrahepatic cholestasis type 2
  • p.Ala865Val Multiple submitters familial intrahepatic cholestasis ⚠
  • p.Ala995= Multiple submitters familial intrahepatic cholestasis
  • p.Arg698His Multiple submitters familial intrahepatic cholestasis ⚠
  • p.Asn591Ser Multiple submitters familial intrahepatic cholestasis
  • p.Gln546Lys Multiple submitters familial intrahepatic cholestasis
  • p.Ile206Val Multiple submitters familial intrahepatic cholestasis ⚠
  • p.Leu712= Multiple submitters familial intrahepatic cholestasis
  • p.Lys1145= Multiple submitters familial intrahepatic cholestasis
  • p.Met677Val Multiple submitters familial intrahepatic cholestasis
  • p.Tyr981= Multiple submitters familial intrahepatic cholestasis
  • p.Val597= Multiple submitters familial intrahepatic cholestasis

Likely benign 742

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

Uncertain significance 663

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