| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | PRPH2-related disorder | |
| | | Single nucleotide variant (missense variant) | PRPH2-related disorder | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Macular dystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Stargardt disease +1 more | |
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