CHP1 — 6 ClinVar variants

All ClinVar germline CHP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

1 Pathogenic · 1 Benign · 4 Likely benign

Full CHP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All CHP1 variants

Pathogenic 1

p.Lys19del No assertion criteria spastic ataxia 9, autosomal recessive

Benign 1

p.Arg158= No assertion criteria CHP1-related disorder

Likely benign 4

c.222-15A>G Single submitter
c.412-4C>T Single submitter
p.Pro61= Single submitter
p.Leu38= No assertion criteria CHP1-related disorder