Sugi Variant

Sugi Variant/ATP2B3

ATP2B3 — 279 ClinVar variants

All ClinVar germline ATP2B3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 141 flagged for review →

2 Pathogenic · 7 Likely pathogenic · 4 Conflicting · 24 Benign · 4 Benign/Likely benign · 95 Likely benign · 143 Uncertain significance

Full ATP2B3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 141

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 3

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 97

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

Predictors split 38

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

All ATP2B3 variants

Pathogenic 2

Likely pathogenic 7

Conflicting classifications of pathogenicity 4

Benign 24

Benign/Likely benign 4

  • c.407-6G>A Multiple submitters X-linked progressive cerebellar ataxia
  • p.Ala1173Val Multiple submitters X-linked progressive cerebellar ataxia
  • p.Arg562= Multiple submitters
  • p.Thr196= Multiple submitters

Likely benign 95

Uncertain significance 143