| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | EYS, PHF3 (Y3156* +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Retinal dystrophy +4 more | GPathogenic/Likely pathogenic |
| | EYS, PHF3 (T3100fs +1 more) | Deletion (frameshift variant +1 more) | Retinitis pigmentosa +4 more | GPathogenic/Likely pathogenic |
| | EYS, PHF3 (V3117fs +1 more) | Deletion (3 prime UTR variant +1 more) | Retinitis pigmentosa 25 +3 more | GPathogenic/Likely pathogenic |
| | EYS, PHF3 (S2869* +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | EYS-related condition +3 more | GPathogenic/Likely pathogenic |
| | EYS, PHF3 (I2823T +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
Click to view in NCBI Gene