| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +2 more | |
| | | Single nucleotide variant (nonsense) | Retinal dystrophy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 3 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 3 | |
| | | Single nucleotide variant (nonsense) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Duplication (frameshift variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +3 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (nonsense) | Leber congenital amaurosis 3 | |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 3 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Optic atrophy | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 3 +2 more | |
| | | Deletion | Retinal dystrophy | |
Click to view in NCBI Gene