| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | EYS, PHF3 (S2987G +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | EYS, PHF3 (D2894fs +1 more) | Deletion (3 prime UTR variant +1 more) | Retinitis pigmentosa 25 +1 more | GPathogenic/Likely pathogenic |
| | EYS, PHF3 (S2869* +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | EYS, PHF3 (G2888fs +1 more) | Deletion (3 prime UTR variant +1 more) | Retinitis pigmentosa 25 +1 more | |
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