| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Retinal dystrophy +5 more | |
| | | Deletion (frameshift variant +1 more) | Retinitis pigmentosa 3 +4 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness +3 more | |
| | | Copy number loss | Retinitis pigmentosa 3 | |
Click to view in NCBI Gene