| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | PRPH2-related disorder | |
| | | Single nucleotide variant (missense variant) | Adult-onset foveomacular vitelliform dystrophy | |
| | | Single nucleotide variant (missense variant) | PRPH2-related disorder | |
| | | Microsatellite (frameshift variant) | Adult-onset foveomacular vitelliform dystrophy | |
Click to view in NCBI Gene