Sugi Variant

Sugi Variant/ATP2A1

ATP2A1 — 923 ClinVar variants

All ClinVar germline ATP2A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 390 flagged for review →

36 Pathogenic · 13 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 29 Conflicting · 40 Benign · 5 Benign/Likely benign · 354 Likely benign · 429 Uncertain significance

Full ATP2A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 390

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 5

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

Predictors lean, ClinVar uncertain 287

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 287

Predictors split 98

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

All ATP2A1 variants

Pathogenic 36

Pathogenic/Likely pathogenic 13

Likely pathogenic 17

Conflicting classifications of pathogenicity 29

Benign 40

Benign/Likely benign 5

Likely benign 354

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 429

Showing the top 300 by review status; the full set is in the sitemap.