| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 39 +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (nonsense) | Leber congenital amaurosis | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +4 more | |
Click to view in NCBI Gene