Sugi Variant

Sugi Variant/ARHGEF15

ARHGEF15 — 698 ClinVar variants

All ClinVar germline ARHGEF15 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 398 flagged for review →

1 Likely pathogenic · 13 Conflicting · 31 Benign · 5 Benign/Likely benign · 218 Likely benign · 430 Uncertain significance

Full ARHGEF15 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 398

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 8

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

Predictors lean, ClinVar uncertain 249

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 249

Predictors split 141

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

All ARHGEF15 variants

Likely pathogenic 1

Conflicting classifications of pathogenicity 13

Benign 31

Benign/Likely benign 5

  • c.1260+4G>A Multiple submitters early-infantile DEE
  • p.Arg18= Multiple submitters early-infantile DEE
  • p.Arg417Leu Multiple submitters early-infantile DEE ⚠
  • p.Cys206= Multiple submitters early-infantile DEE
  • p.Gln320= Multiple submitters early-infantile DEE

Likely benign 218

Uncertain significance 430

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