| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Doyne honeycomb retinal dystrophy +9 more | |
| | | Single nucleotide variant (missense variant) | PRPH2-related disorder +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene