| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | EYS, PHF3 (N3061Y +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa 25 | |
| | PHF3, EYS (M3019T +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa 25 | |
| | EYS, PHF3 (V2944fs +1 more) | Deletion (3 prime UTR variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | EYS, PHF3 (Q2952fs +1 more) | Deletion (3 prime UTR variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
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