| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 6 +1 more | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 6 +3 more | |
| | | Single nucleotide variant (missense variant) | Choroidal dystrophy, central areolar, 1 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +1 more | |
Click to view in NCBI Gene