Sugi Variant

Sugi Variant/UROD

UROD — 198 ClinVar variants

All ClinVar germline UROD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 88 flagged for review →

25 Pathogenic · 12 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 12 Conflicting · 5 Benign · 2 Benign/Likely benign · 29 Likely benign · 94 Uncertain significance

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

⚑ Evidence disagreements 88

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 6

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

Predictors lean, ClinVar uncertain 58

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

Predictors split 22

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

All UROD variants

Pathogenic 25

Pathogenic/Likely pathogenic 12

  • p.Ala80Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Arg142Ter Multiple submitters familial porphyria cutanea tarda
  • p.Cys308fs Multiple submitters
  • p.Gln206Ter Multiple submitters familial porphyria cutanea tarda
  • p.Glu314= Multiple submitters familial porphyria cutanea tarda
  • p.Glu67Ter Multiple submitters
  • p.Gly281Val Multiple submitters familial porphyria cutanea tarda
  • p.His220Pro Multiple submitters
  • p.Met165Arg Multiple submitters familial porphyria cutanea tarda
  • p.Phe46Leu Multiple submitters familial porphyria cutanea tarda
  • p.Pro62Leu Multiple submitters hepatoerythropoietic porphyria
  • p.Val134Gln Multiple submitters UROD-related disorder

Likely pathogenic 19

Conflicting classifications of pathogenicity 12

Benign 5

Benign/Likely benign 2

  • c.*3G>A Multiple submitters familial porphyria cutanea tarda
  • p.Pro150= Multiple submitters familial porphyria cutanea tarda

Likely benign 29

Uncertain significance 94