| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 15 | |
| | | Single nucleotide variant (splice donor variant) | Leber congenital amaurosis 15 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 15 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 15 | |
Click to view in NCBI Gene