| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa | |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 6 +1 more | |
| | | Deletion (frameshift variant) | Leber congenital amaurosis 6 +1 more | |
| | | Microsatellite (frameshift variant) | Leber congenital amaurosis 6 +1 more | |
Click to view in NCBI Gene