Sugi Variant

Sugi Variant/VMA12

VMA12 — 66 ClinVar variants

All ClinVar germline VMA12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →

3 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 1 Conflicting · 8 Benign · 1 Benign/Likely benign · 17 Likely benign · 34 Uncertain significance

Full VMA12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 35

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 24

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

Predictors split 10

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

All VMA12 variants

Pathogenic 3

Pathogenic/Likely pathogenic 1

Likely pathogenic 1

Conflicting classifications of pathogenicity 1

Benign 8

Benign/Likely benign 1

Likely benign 17

Uncertain significance 34