| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Retinal dystrophy +2 more | GPathogenic/Likely pathogenic |
| | CYP4V2, LOC129993526 (L22V) | Single nucleotide variant (missense variant) | Retinal dystrophy +4 more | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
Click to view in NCBI Gene