| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Leber congenital amaurosis 1 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 1 | |
| | | Single nucleotide variant (nonsense) | Cone-rod dystrophy 6 +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene