Sugi Variant

Sugi Variant/ARHGEF18

ARHGEF18 — 1047 ClinVar variants

All ClinVar germline ARHGEF18 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

20 Pathogenic · 1 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 17 Conflicting · 54 Benign · 2 Benign/Likely benign · 434 Likely benign · 511 Uncertain significance

Full ARHGEF18 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All ARHGEF18 variants

Pathogenic 20

Pathogenic/Likely pathogenic 1

  • c.2181+5G>A No assertion criteria retinitis pigmentosa 78

Likely pathogenic 8

Conflicting classifications of pathogenicity 17

Benign 54

Benign/Likely benign 2

Likely benign 434

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

Uncertain significance 511

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