| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Retinitis pigmentosa 28 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Retinal dystrophy +2 more | |
| | | Microsatellite (frameshift variant +1 more) | Autosomal recessive retinitis pigmentosa +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene