Sugi Variant

Sugi Variant/UROS

UROS — 157 ClinVar variants

All ClinVar germline UROS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →

24 Pathogenic · 1 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 6 Conflicting · 23 Benign · 5 Benign/Likely benign · 40 Likely benign · 51 Uncertain significance

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

⚑ Evidence disagreements 48

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 3

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

Predictors lean, ClinVar uncertain 28

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

Predictors split 16

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

All UROS variants

Pathogenic 24

Pathogenic/Likely pathogenic 1

  • c.63+1G>A Multiple submitters UROS-related disorder

Likely pathogenic 7

Conflicting classifications of pathogenicity 6

Benign 23

Benign/Likely benign 5

Likely benign 40

Uncertain significance 51