Sugi Variant

Sugi Variant/UBA2

UBA2 — 112 ClinVar variants

All ClinVar germline UBA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →

13 Pathogenic · 1 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 2 Conflicting · 1 Benign · 7 Likely benign · 75 Uncertain significance

Full UBA2 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 agree, ClinVar conflicts 2

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

Predictors lean, ClinVar uncertain 53

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

Predictors split 14

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

All UBA2 variants

Pathogenic 13

Pathogenic/Likely pathogenic 1

  • p.Met1Val Multiple submitters Inborn genetic diseases

Likely pathogenic 13

Conflicting classifications of pathogenicity 2

Benign 1

Likely benign 7

Uncertain significance 75