Sugi Variant

Sugi Variant/ABCB4

ABCB4 — 1446 ClinVar variants

All ClinVar germline ABCB4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 609 flagged for review →

144 Pathogenic · 33 Pathogenic/Likely pathogenic · 68 Likely pathogenic · 99 Conflicting · 81 Benign · 17 Benign/Likely benign · 380 Likely benign · 624 Uncertain significance

Full ABCB4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 609

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 5

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

Predictors agree, ClinVar conflicts 29

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

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 334

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 334

Predictors split 239

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 239

All ABCB4 variants

Pathogenic 144

Pathogenic/Likely pathogenic 33

  • c.2211+1G>A Multiple submitters ABCB4-related disorder
  • c.2682+1G>A Multiple submitters progressive familial intrahepatic cholestasis type 3
  • c.2783+1G>T Multiple submitters familial intrahepatic cholestasis
  • c.3486+1G>A Multiple submitters progressive familial intrahepatic cholestasis
  • c.3486+1G>T Multiple submitters familial intrahepatic cholestasis
  • c.3633+1G>T Multiple submitters familial intrahepatic cholestasis
  • c.834-1G>A Multiple submitters gallbladder disease 1
  • p.Arg1046Ter Multiple submitters ABCB4-related disorder
  • p.Arg150Lys Multiple submitters familial intrahepatic cholestasis ⚠
  • p.Arg176Trp Multiple submitters cholestasis, intrahepatic, of pregnancy, 3 ⚠
  • p.Arg406Ter Multiple submitters progressive familial intrahepatic cholestasis type 3
  • p.Arg545Cys Multiple submitters cholestasis, intrahepatic, of pregnancy, 3
  • p.Arg957Ter Multiple submitters familial intrahepatic cholestasis
  • p.Cys1124fs Multiple submitters
  • p.Gln1181Ter Multiple submitters gallbladder disease 1
  • p.Gln145Ter Multiple submitters ABCB4-related disorder
  • p.Gln440Ter Multiple submitters gallbladder disease 1
  • p.Gln636Ter Multiple submitters progressive familial intrahepatic cholestasis type 3
  • p.Gln945Ter Multiple submitters progressive familial intrahepatic cholestasis type 3
  • p.Glu898Lys Multiple submitters cholestasis, intrahepatic, of pregnancy, 3
  • p.Gly68Arg Multiple submitters gallbladder disease 1
  • p.Ile1242fs Multiple submitters progressive familial intrahepatic cholestasis type 1
  • p.Leu518fs Multiple submitters progressive familial intrahepatic cholestasis type 1
  • p.Lys1026fs Multiple submitters familial intrahepatic cholestasis
  • p.Lys30fs Multiple submitters cholestasis, intrahepatic, of pregnancy, 3
  • p.Met1Val Multiple submitters familial intrahepatic cholestasis
  • p.Pro479Leu Multiple submitters progressive familial intrahepatic cholestasis
  • p.Pro726Leu Multiple submitters gallbladder disease 1
  • p.Ser27Gly Multiple submitters familial intrahepatic cholestasis ⚠
  • p.Ser320Phe Multiple submitters familial intrahepatic cholestasis
  • p.Thr34fs Multiple submitters familial intrahepatic cholestasis
  • p.Trp51Ter Multiple submitters familial intrahepatic cholestasis
  • p.Gln631His No assertion criteria

Likely pathogenic 68

  • c.1560+1G>A Multiple submitters progressive familial intrahepatic cholestasis type 3
  • c.2064+3A>T Multiple submitters familial intrahepatic cholestasis
  • c.3633+2T>A Multiple submitters familial intrahepatic cholestasis
  • c.80+1G>A Multiple submitters gallbladder disease 1
  • p.Gly954Asp Multiple submitters progressive familial intrahepatic cholestasis type 3
  • p.Ser978Pro Multiple submitters ABCB4-Related Intrahepatic Cholestasis
  • p.Val1051Ala Multiple submitters gallbladder disease 1
  • c.1119+2T>C Single submitter
  • c.1119+5G>A Single submitter progressive familial intrahepatic cholestasis type 1
  • c.1231-1G>A Single submitter gallbladder disease 1
  • c.1357-1G>A Single submitter
  • c.1357-2A>G Single submitter
  • c.2394+1G>A Single submitter
  • c.2479-2A>C Single submitter progressive familial intrahepatic cholestasis type 3
  • c.3081+1G>T Single submitter progressive familial intrahepatic cholestasis type 3
  • c.3081+2_3081+19del Single submitter progressive familial intrahepatic cholestasis type 3
  • c.3280-1_3280delinsTT Single submitter
  • c.3486+5G>A Single submitter familial intrahepatic cholestasis
  • c.80+2T>A Single submitter
  • p.Ala250Thr Single submitter gallbladder disease 1 ⚠
  • p.Ala256Thr Single submitter cholestasis, intrahepatic, of pregnancy, 3 ⚠
  • p.Ala315Asp Single submitter progressive familial intrahepatic cholestasis type 3
  • p.Ala511Thr Single submitter familial intrahepatic cholestasis ⚠
  • p.Arg469fs Single submitter ABCB4-related disorder
  • p.Arg47Gly Single submitter gallbladder disease 1 ⚠
  • p.Arg549Cys Single submitter familial intrahepatic cholestasis ⚠
  • p.Arg831Ser Single submitter familial intrahepatic cholestasis
  • p.Asn510Thr Single submitter familial intrahepatic cholestasis ⚠
  • p.Asp459Gly Single submitter familial intrahepatic cholestasis ⚠
  • p.Gln1194Ter Single submitter familial intrahepatic cholestasis
  • p.Gln477Ter Single submitter progressive familial intrahepatic cholestasis type 3
  • p.Gln855Leu Single submitter familial intrahepatic cholestasis
  • p.Gln932fs Single submitter familial intrahepatic cholestasis
  • p.Glu112Ter Single submitter cholestasis, intrahepatic, of pregnancy, 3
  • p.Gly1169Glu Single submitter cholestasis, intrahepatic, of pregnancy, 3
  • p.Gly122Arg Single submitter gallbladder disease 1
  • p.Gly1264fs Single submitter familial intrahepatic cholestasis
  • p.Gly228Arg Single submitter familial intrahepatic cholestasis
  • p.Gly384Arg Single submitter familial intrahepatic cholestasis
  • p.Gly536Arg Single submitter familial intrahepatic cholestasis
  • p.Gly938Glu Single submitter progressive familial intrahepatic cholestasis type 3
  • p.Gly983Asp Single submitter
  • p.His1006fs Single submitter progressive familial intrahepatic cholestasis type 3
  • p.His1231Tyr Single submitter familial intrahepatic cholestasis
  • p.His155fs Single submitter familial intrahepatic cholestasis
  • p.Leu1198Ter Single submitter gallbladder disease 1
  • p.Leu322Pro Single submitter familial intrahepatic cholestasis
  • p.Leu441Arg Single submitter progressive familial intrahepatic cholestasis type 1
  • p.Leu556Arg Single submitter familial intrahepatic cholestasis
  • p.Leu73fs Single submitter
  • p.Leu842Pro Single submitter familial intrahepatic cholestasis
  • p.Lys1075Met Single submitter familial intrahepatic cholestasis
  • p.Lys435Thr Single submitter familial intrahepatic cholestasis
  • p.Met1269fs Single submitter familial intrahepatic cholestasis
  • p.Phe754fs Single submitter familial intrahepatic cholestasis
  • p.Ser346Ile Single submitter familial intrahepatic cholestasis
  • p.Thr265Ser Single submitter cholestasis, intrahepatic, of pregnancy, 3
  • p.Trp12Ter Single submitter cholestasis, intrahepatic, of pregnancy, 3
  • p.Trp234Ter Single submitter cholestasis, intrahepatic, of pregnancy, 3
  • p.Tyr403Cys Single submitter cholestasis, intrahepatic, of pregnancy, 3
  • p.Tyr403His Single submitter familial intrahepatic cholestasis
  • p.Tyr512Ter Single submitter progressive familial intrahepatic cholestasis type 3
  • p.Tyr927Ter Single submitter
  • p.Val255fs Single submitter progressive familial intrahepatic cholestasis
  • p.Val399Ala Single submitter cholestasis, intrahepatic, of pregnancy, 3
  • c.2395-1G>A No assertion criteria ABCB4-related disorder
  • c.3486+1G>C No assertion criteria ABCB4-related disorder
  • p.Val548fs No assertion criteria ABCB4-related disorder

Conflicting classifications of pathogenicity 99

Benign 81

Benign/Likely benign 17

  • c.1231-16C>T Multiple submitters
  • c.1356+26A>G Multiple submitters gallbladder disease 1
  • c.1357-17A>G Multiple submitters
  • c.2395-19C>T Multiple submitters
  • c.3486+10dup Multiple submitters gallbladder disease 1
  • c.536+11T>C Multiple submitters
  • c.-1G>A Multiple submitters cholestasis, intrahepatic, of pregnancy, 3
  • p.Arg652Gly Multiple submitters familial intrahepatic cholestasis
  • p.Arg788Gln Multiple submitters familial intrahepatic cholestasis
  • p.Glu528Asp Multiple submitters familial intrahepatic cholestasis ⚠
  • p.Ile237= Multiple submitters familial intrahepatic cholestasis
  • p.Lys152= Multiple submitters familial intrahepatic cholestasis
  • p.Ser49= Multiple submitters familial intrahepatic cholestasis
  • p.Thr175Ala Multiple submitters familial intrahepatic cholestasis ⚠
  • p.Thr438= Multiple submitters familial intrahepatic cholestasis
  • p.Thr775= Multiple submitters progressive familial intrahepatic cholestasis type 3
  • p.Val607= Multiple submitters

Likely benign 380

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

Uncertain significance 624

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