| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Microsatellite (inframe_deletion) | Retinal dystrophy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Patterned macular dystrophy 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | PRPH2-related disorder | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | PRPH2-related disorder +4 more | |
| | | Single nucleotide variant (missense variant) | Patterned macular dystrophy 1 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Retinal dystrophy +2 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 7 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Vitelliform macular dystrophy 2 +9 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | PRPH2-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | PRPH2-related disorder +6 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene