Sugi Variant

Sugi Variant/UGT1A1

UGT1A1 — 373 ClinVar variants

All ClinVar germline UGT1A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 176 flagged for review →

38 Pathogenic · 17 Pathogenic/Likely pathogenic · 26 Likely pathogenic · 31 Conflicting · 2 Benign · 4 Benign/Likely benign · 55 Likely benign · 200 Uncertain significance

Full UGT1A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 176

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 2

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

Predictors agree, ClinVar conflicts 9

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

Predictors lean, ClinVar uncertain 122

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

Predictors split 43

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

All UGT1A1 variants

Pathogenic 38

Pathogenic/Likely pathogenic 17

  • c.1084+1G>T Multiple submitters UGT1A1-related disorder
  • c.1304+1G>T Multiple submitters Gilbert syndrome
  • c.864+1G>C Multiple submitters Gilbert syndrome
  • p.Ala27fs Multiple submitters Inborn genetic diseases
  • p.Arg209Trp Multiple submitters UGT1A1-related disorder
  • p.Arg336Gln Multiple submitters Crigler-Najjar syndrome type 1
  • p.Arg341Ter Multiple submitters Gilbert syndrome
  • p.Asp119fs Multiple submitters UGT1A1-related disorder
  • p.Cys177Tyr Multiple submitters Gilbert syndrome
  • p.Gln357Arg Multiple submitters UGT1A1-related disorder
  • p.Gly308Glu Multiple submitters Gilbert syndrome
  • p.His203_Lys211delinsGln Multiple submitters Crigler-Najjar syndrome
  • p.Lys407fs Multiple submitters transient familial neonatal hyperbilirubinemia
  • p.Phe171del Multiple submitters Gilbert syndrome
  • p.Trp461Ter Multiple submitters BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
  • p.Tyr486Asp Multiple submitters UGT1A1 & UGT1A9-related disorders
  • p.Phe83Leu Single submitter Crigler-Najjar syndrome type 1

Likely pathogenic 26

Conflicting classifications of pathogenicity 31

Benign 2

Benign/Likely benign 4

Likely benign 55

Uncertain significance 200