| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Pigmentary retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +12 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Duplication (frameshift variant) | Pigmentary retinal dystrophy | |
| | | Deletion (frameshift variant) | PRPH2-related disorder +1 more | |
| | | Single nucleotide variant (nonsense) | Pigmentary retinal dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Abnormality of retinal pigmentation +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | BLOC1S1-RDH5, RDH5 (T84fs) | Duplication (frameshift variant) | Pigmentary retinal dystrophy | |
Click to view in NCBI Gene