Sugi Variant

Sugi Variant/NR1H4

NR1H4 — 162 ClinVar variants

All ClinVar germline NR1H4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →

6 Pathogenic · 1 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 9 Conflicting · 19 Benign · 2 Benign/Likely benign · 33 Likely benign · 83 Uncertain significance

Full NR1H4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 69

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 lean, ClinVar uncertain 51

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 18

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

All NR1H4 variants

Pathogenic 6

  • p.Arg176Ter Multiple submitters progressive familial intrahepatic cholestasis type 1
  • p.Arg183Ter Single submitter
  • p.Gln427fs Single submitter cholestasis, progressive familial intrahepatic, 5
  • p.Glu189Ter Single submitter
  • p.Gly27Cys Single submitter cholestasis, progressive familial intrahepatic, 5
  • p.Tyr139_Asn140insLys Single submitter progressive familial intrahepatic cholestasis type 1

Pathogenic/Likely pathogenic 1

  • c.831+1G>A Multiple submitters cholestasis, progressive familial intrahepatic, 5

Likely pathogenic 9

  • c.733-2A>G Single submitter
  • c.831+1G>T Single submitter cholestasis, progressive familial intrahepatic, 5
  • p.Gln48Ter Single submitter cholestasis, progressive familial intrahepatic, 5
  • p.Glu31Ter Single submitter
  • p.Gly326Arg Single submitter cholestasis, progressive familial intrahepatic, 5
  • p.Leu309fs Single submitter
  • p.Lys4Ter Single submitter NR1H4-related disorder
  • p.Pro345fs Single submitter cholestasis, progressive familial intrahepatic, 5
  • p.Thr296Ile Single submitter cholestasis, progressive familial intrahepatic, 5 ⚠

Conflicting classifications of pathogenicity 9

Benign 19

Benign/Likely benign 2

Likely benign 33

Uncertain significance 83