| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | EYS, PHF3 (T2883fs +1 more) | Deletion (3 prime UTR variant +1 more) | Retinal dystrophy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Retinitis pigmentosa 25 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Retinal dystrophy +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene