| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | EYS, PHF3 (G3110A +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa | |
| | EYS, PHF3 (V3117fs +1 more) | Deletion (frameshift variant +1 more) | Retinitis pigmentosa 25 +3 more | GPathogenic/Likely pathogenic |
| | EYS, PHF3 (N3096fs +1 more) | Deletion (3 prime UTR variant +1 more) | Retinitis pigmentosa | |
| | | Deletion (3 prime UTR variant +1 more) | not provided | |
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