Sugi Variant

Sugi Variant/AP1S1

AP1S1 — 141 ClinVar variants

All ClinVar germline AP1S1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 19 flagged for review →

2 Pathogenic · 4 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 2 Conflicting · 18 Benign · 95 Likely benign · 19 Uncertain significance

Full AP1S1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 19

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 lean, ClinVar uncertain 8

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

Predictors split 11

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

All AP1S1 variants

Pathogenic 2

Pathogenic/Likely pathogenic 4

Likely pathogenic 1

Conflicting classifications of pathogenicity 2

Benign 18

Likely benign 95

Uncertain significance 19