| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | Cone-rod dystrophy 6 +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GPathogenic/Likely pathogenic |
| | | Insertion (frameshift variant) | Leber congenital amaurosis | |
Click to view in NCBI Gene