Sugi Variant

Sugi Variant/ATP6AP1

ATP6AP1 — 321 ClinVar variants

All ClinVar germline ATP6AP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 123 flagged for review →

6 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 19 Conflicting · 31 Benign · 13 Benign/Likely benign · 113 Likely benign · 133 Uncertain significance

Full ATP6AP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 123

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 10

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

Predictors lean, ClinVar uncertain 88

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

Predictors split 25

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

All ATP6AP1 variants

Pathogenic 6

Pathogenic/Likely pathogenic 1

Likely pathogenic 5

Conflicting classifications of pathogenicity 19

Benign 31

Benign/Likely benign 13

Likely benign 113

Uncertain significance 133