| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (splice acceptor variant) | Retinal dystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Retinitis pigmentosa | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa | |
| | | Single nucleotide variant (nonsense) | Abnormality of the eye +1 more | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa | |
Click to view in NCBI Gene