| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 3 | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +1 more | |
| | | Deletion (frameshift variant) | Leber congenital amaurosis 3 | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene