Sugi Variant

Sugi Variant/ARHGAP32

ARHGAP32 — 320 ClinVar variants

All ClinVar germline ARHGAP32 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 253 flagged for review →

1 Pathogenic · 1 Likely pathogenic · 2 Conflicting · 16 Benign · 3 Benign/Likely benign · 41 Likely benign · 256 Uncertain significance

Full ARHGAP32 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 253

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 2

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

Predictors lean, ClinVar uncertain 230

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 230

Predictors split 21

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

All ARHGAP32 variants

Pathogenic 1

  • p.Thr528Arg Single submitter neurodevelopmental disorder

Likely pathogenic 1

  • p.Arg204Ter Single submitter Global developmental delay

Conflicting classifications of pathogenicity 2

Benign 16

Benign/Likely benign 3

Likely benign 41

Uncertain significance 256