| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Duplication (frameshift variant) | Retinitis pigmentosa +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Retinal dystrophy +2 more | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Optic atrophy +2 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +4 more | |
| | | Single nucleotide variant (nonsense) | Optic atrophy | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Deletion (frameshift variant) | Retinal dystrophy | |
Click to view in NCBI Gene