| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +3 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Deletion (inframe_deletion) | Bothnia retinal dystrophy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Retinal dystrophy +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene