| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number gain | Cone-rod dystrophy 13 | |
| | | Deletion (frameshift variant) | Leber congenital amaurosis +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice acceptor variant) | Cone-rod dystrophy 13 +2 more | GPathogenic/Likely pathogenic |
| | | Insertion (frameshift variant) | Leber congenital amaurosis 6 +1 more | |
Click to view in NCBI Gene