| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Cone-rod dystrophy +1 more | |
| | | Deletion (frameshift variant) | Cone-rod dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Retinitis pigmentosa +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene