| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis | |
| | | Single nucleotide variant (nonsense) | Retinal dystrophy +3 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
Click to view in NCBI Gene