Sugi Variant

Sugi Variant/ATP8B1

ATP8B1 — 1295 ClinVar variants

All ClinVar germline ATP8B1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 347 flagged for review →

85 Pathogenic · 25 Pathogenic/Likely pathogenic · 58 Likely pathogenic · 77 Conflicting · 135 Benign · 13 Benign/Likely benign · 501 Likely benign · 401 Uncertain significance

Full ATP8B1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 347

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

Predictors vs ClinVar 1

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

Predictors agree, ClinVar conflicts 28

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

Predictors lean, ClinVar uncertain 261

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 261

Predictors split 57

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

All ATP8B1 variants

Pathogenic 85

Pathogenic/Likely pathogenic 25

  • c.1819+1G>A Multiple submitters familial intrahepatic cholestasis
  • c.2097+2T>C Multiple submitters familial intrahepatic cholestasis
  • c.2286-2A>G Multiple submitters benign recurrent intrahepatic cholestasis type 1
  • c.2418+5G>A Multiple submitters progressive familial intrahepatic cholestasis
  • c.3400+2T>C Multiple submitters benign recurrent intrahepatic cholestasis type 1
  • c.3531+1G>A Multiple submitters benign recurrent intrahepatic cholestasis type 1
  • c.698+1G>T Multiple submitters cholestasis, intrahepatic, of pregnancy, 1
  • p.Ala93= Multiple submitters familial intrahepatic cholestasis
  • p.Arg1164Ter Multiple submitters benign recurrent intrahepatic cholestasis type 1
  • p.Arg296Cys Multiple submitters progressive familial intrahepatic cholestasis
  • p.Arg46Ter Multiple submitters cholestasis, intrahepatic, of pregnancy, 1
  • p.Arg600Gln Multiple submitters ATP8B1-related disorder
  • p.Arg631Ter Multiple submitters benign recurrent intrahepatic cholestasis type 1
  • p.Arg71fs Multiple submitters benign recurrent intrahepatic cholestasis type 1
  • p.Glu20Ter Multiple submitters familial intrahepatic cholestasis
  • p.Glu981Lys Multiple submitters benign recurrent intrahepatic cholestasis type 1
  • p.Gly308Ser Multiple submitters benign recurrent intrahepatic cholestasis type 1
  • p.Gly446Arg Multiple submitters progressive familial intrahepatic cholestasis
  • p.His417fs Multiple submitters benign recurrent intrahepatic cholestasis type 1
  • p.Ile661Thr Multiple submitters familial intrahepatic cholestasis
  • p.Ile694Asn Multiple submitters benign recurrent intrahepatic cholestasis type 1
  • p.Leu404fs Multiple submitters progressive familial intrahepatic cholestasis
  • p.Met320fs Multiple submitters familial intrahepatic cholestasis
  • p.Phe529del Multiple submitters familial intrahepatic cholestasis
  • p.Thr456Met Multiple submitters familial intrahepatic cholestasis

Likely pathogenic 58

  • c.2209+1del Multiple submitters benign recurrent intrahepatic cholestasis type 1
  • p.Glu751Ter Multiple submitters progressive familial intrahepatic cholestasis type 1
  • p.Ile344Phe Multiple submitters familial intrahepatic cholestasis ⚠
  • c.1029+1G>A Single submitter
  • c.1429+1G>T Single submitter benign recurrent intrahepatic cholestasis type 1
  • c.1631-1G>C Single submitter
  • c.182-4_183del Single submitter familial intrahepatic cholestasis
  • c.1820-1G>C Single submitter familial intrahepatic cholestasis
  • c.1932+1G>A Single submitter benign recurrent intrahepatic cholestasis type 1
  • c.1933-1G>A Single submitter familial intrahepatic cholestasis
  • c.1933-1G>T Single submitter familial intrahepatic cholestasis
  • c.2097+1G>A Single submitter familial intrahepatic cholestasis
  • c.280-2A>G Single submitter familial intrahepatic cholestasis
  • c.2932-550_2946del Single submitter
  • c.3015+1G>T Single submitter progressive familial intrahepatic cholestasis type 1
  • c.3261+1G>C Single submitter progressive familial intrahepatic cholestasis
  • c.699-2A>G Single submitter benign recurrent intrahepatic cholestasis type 1
  • c.782-1G>A Single submitter familial intrahepatic cholestasis
  • c.940+1G>C Single submitter benign recurrent intrahepatic cholestasis type 1
  • c.941-1G>A Single submitter familial intrahepatic cholestasis
  • p.Ala561fs Single submitter benign recurrent intrahepatic cholestasis type 1
  • p.Arg1199fs Single submitter familial intrahepatic cholestasis
  • p.Arg1225fs Single submitter
  • p.Arg296Ser Single submitter cholestasis, intrahepatic, of pregnancy, 1
  • p.Arg934Gly Single submitter benign recurrent intrahepatic cholestasis type 1
  • p.Asn648fs Single submitter benign recurrent intrahepatic cholestasis type 1
  • p.Asp454Val Single submitter cholestasis, intrahepatic, of pregnancy, 1
  • p.Cys306Arg Single submitter familial intrahepatic cholestasis
  • p.Gln1142fs Single submitter familial intrahepatic cholestasis
  • p.Gln1142Ter Single submitter benign recurrent intrahepatic cholestasis type 1
  • p.Glu61Ter Single submitter benign recurrent intrahepatic cholestasis type 1
  • p.Gly233Arg Single submitter progressive familial intrahepatic cholestasis type 1
  • p.His630delinsGlnTer Single submitter familial intrahepatic cholestasis
  • p.Ile311fs Single submitter benign recurrent intrahepatic cholestasis type 1
  • p.Leu1185Ter Single submitter familial intrahepatic cholestasis
  • p.Leu127Pro Single submitter familial intrahepatic cholestasis
  • p.Leu213Ile Single submitter cholestasis, intrahepatic, of pregnancy, 1 ⚠
  • p.Leu594Ter Single submitter benign recurrent intrahepatic cholestasis type 1
  • p.Leu629fs Single submitter benign recurrent intrahepatic cholestasis type 1
  • p.Phe1132Val Single submitter progressive familial intrahepatic cholestasis type 1
  • p.Phe58fs Single submitter progressive familial intrahepatic cholestasis type 1
  • p.Phe853fs Single submitter benign recurrent intrahepatic cholestasis type 1
  • p.Phe959fs Single submitter benign recurrent intrahepatic cholestasis type 1
  • p.Pro870Arg Single submitter progressive familial intrahepatic cholestasis type 1
  • p.Ser518Ter Single submitter benign recurrent intrahepatic cholestasis type 1
  • p.Thr246fs Single submitter benign recurrent intrahepatic cholestasis type 1
  • p.Thr258fs Single submitter benign recurrent intrahepatic cholestasis type 1
  • p.Trp141Ter Single submitter benign recurrent intrahepatic cholestasis type 1
  • p.Trp669Ter Single submitter progressive familial intrahepatic cholestasis
  • p.Tyr1094Ter Single submitter benign recurrent intrahepatic cholestasis type 1
  • p.Tyr1209fs Single submitter familial intrahepatic cholestasis
  • p.Tyr361fs Single submitter benign recurrent intrahepatic cholestasis type 1
  • p.Tyr980Ter Single submitter benign recurrent intrahepatic cholestasis type 1
  • p.Val150fs Single submitter benign recurrent intrahepatic cholestasis type 1
  • p.Val559_Arg563del Single submitter familial intrahepatic cholestasis
  • p.Val938fs Single submitter benign recurrent intrahepatic cholestasis type 1
  • p.Met900Val No assertion criteria progressive familial intrahepatic cholestasis type 1
  • p.Tyr883Ter No assertion criteria ATP8B1-related disorder

Conflicting classifications of pathogenicity 77

Benign 135

Benign/Likely benign 13

  • c.1029+19A>C Multiple submitters
  • c.181+30C>T Multiple submitters
  • c.2931+14G>A Multiple submitters benign recurrent intrahepatic cholestasis type 1
  • c.3016-19A>G Multiple submitters progressive familial intrahepatic cholestasis type 1
  • c.-25-6T>C Multiple submitters progressive familial intrahepatic cholestasis type 1
  • c.*11C>T Multiple submitters familial intrahepatic cholestasis
  • p.Arg952Gln Multiple submitters progressive familial intrahepatic cholestasis type 1
  • p.Asn45Thr Multiple submitters familial intrahepatic cholestasis
  • p.Asp232= Multiple submitters progressive familial intrahepatic cholestasis type 1
  • p.Lys814Asn Multiple submitters familial intrahepatic cholestasis ⚠
  • p.Met674Thr Multiple submitters familial intrahepatic cholestasis
  • p.Ser580Asn Multiple submitters progressive familial intrahepatic cholestasis type 1
  • p.Thr82= Multiple submitters familial intrahepatic cholestasis

Likely benign 501

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

Uncertain significance 401

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