01
At a glance
Association overview
02
Provenance
Evidence and sources
03
CHM
The gene
04
Hereditary Retinal Dystrophy
The disorder
05
ClinVar and variant evidence
Genetic basis
07
Provenance
The association between CHM (CHM Rab Escort Protein) and Hereditary Retinal Dystrophy is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.