| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (missense variant) | PDE6B-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | PDE6B-related disorder +5 more | |
Click to view in NCBI Gene