| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | EYS, PHF3 (T3100fs +1 more) | Deletion (3 prime UTR variant +1 more) | Retinitis pigmentosa 25 +3 more | GPathogenic/Likely pathogenic |
| | EYS, PHF3 (A2808T +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene