01
At a glance
Association overview
02
Provenance
Evidence and sources
03
CYP4V2
The gene
04
Hereditary Retinal Dystrophy
The disorder
05
ClinVar and variant evidence
Genetic basis
07
Provenance
The association between CYP4V2 (Cytochrome P450 Family 4 Subfamily V Member 2) and Hereditary Retinal Dystrophy is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.