| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Adult-onset foveomacular vitelliform dystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | PRPH2-Related Disorders +2 more | |
| | | Deletion (frameshift variant) | Cone dystrophy | |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Isolated macular dystrophy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Vitelliform macular dystrophy 2 +1 more | |
| | | Indel (frameshift variant) | Retinitis pigmentosa | |
| | | Deletion (frameshift variant) | Isolated macular dystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Central areolar choroidal dystrophy | |
Click to view in NCBI Gene