Sugi Variant

Sugi Variant/VWA2

VWA2 — 57 ClinVar variants

All ClinVar germline VWA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →

1 Likely pathogenic · 21 Benign · 1 Benign/Likely benign · 26 Likely benign · 8 Uncertain significance

Full VWA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 10

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 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors lean, ClinVar uncertain 7

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

Predictors split 2

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

All VWA2 variants

Likely pathogenic 1

Benign 21

Benign/Likely benign 1

Likely benign 26

Uncertain significance 8