| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +7 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance |
Click to view in NCBI Gene