Sugi Variant

Sugi Variant/IMPDH1

IMPDH1 — 744 ClinVar variants

All ClinVar germline IMPDH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

12 Pathogenic · 5 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 65 Conflicting · 14 Benign · 21 Benign/Likely benign · 246 Likely benign · 363 Uncertain significance

Full IMPDH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All IMPDH1 variants

Pathogenic 12

Pathogenic/Likely pathogenic 5

  • p.Arg309Pro Multiple submitters IMPDH1-related disorder
  • p.Asp311Asn Multiple submitters IMPDH1-related disorder
  • p.Asp311Gly Multiple submitters IMPDH1-related disorder
  • p.Lys314Asn Multiple submitters retinitis pigmentosa 10
  • p.Lys323Arg Multiple submitters retinitis pigmentosa 10

Likely pathogenic 18

Conflicting classifications of pathogenicity 65

Benign 14

Benign/Likely benign 21

Likely benign 246

Uncertain significance 363

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