| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | PRPH2-Related Disorders +1 more | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Deletion (inframe_deletion) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Patterned dystrophy of the retinal pigment epithelium +4 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 7 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | PRPH2-Related Disorders +9 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion) | PRPH2-Related Disorders +2 more | |
| | | Microsatellite (inframe_deletion) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | PRPH2-Related Disorders +6 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | not provided +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene