Sugi Variant

Sugi Variant/ARHGAP31

ARHGAP31 — 653 ClinVar variants

All ClinVar germline ARHGAP31 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 382 flagged for review →

3 Pathogenic · 1 Likely pathogenic · 34 Conflicting · 60 Benign · 15 Benign/Likely benign · 165 Likely benign · 375 Uncertain significance

Full ARHGAP31 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 382

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 24

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

Predictors lean, ClinVar uncertain 247

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 247

Predictors split 111

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

All ARHGAP31 variants

Pathogenic 3

  • p.Gln728Ter Single submitter Adams-Oliver syndrome 1
  • p.Gln683Ter No assertion criteria Adams-Oliver syndrome 1
  • p.Lys1087fs No assertion criteria Adams-Oliver syndrome 1

Likely pathogenic 1

Conflicting classifications of pathogenicity 34

Benign 60

Benign/Likely benign 15

  • c.100+9C>T Multiple submitters
  • c.349-7T>G Multiple submitters Adams-Oliver syndrome 1
  • c.432-7A>G Multiple submitters Adams-Oliver syndrome 1
  • p.Arg312= Multiple submitters Adams-Oliver syndrome 1
  • p.Asp1153Gly Multiple submitters Inborn genetic diseases
  • p.Gly1268Glu Multiple submitters Inborn genetic diseases
  • p.Gly1318Val Multiple submitters Inborn genetic diseases
  • p.Gly533Arg Multiple submitters Adams-Oliver syndrome 1
  • p.Leu128= Multiple submitters Adams-Oliver syndrome 1
  • p.Leu777Pro Multiple submitters Inborn genetic diseases
  • p.Pro221Leu Multiple submitters Adams-Oliver syndrome 1
  • p.Pro274Ser Multiple submitters Adams-Oliver syndrome 1 ⚠
  • p.Pro787Ala Multiple submitters Adams-Oliver syndrome 1
  • p.Pro788= Multiple submitters Adams-Oliver syndrome 1
  • p.Thr679Ile Multiple submitters Inborn genetic diseases

Likely benign 165

Uncertain significance 375

Showing the top 300 by review status; the full set is in the sitemap.