| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | PRPF31, PRPF31-AS1 (K230fs) | Deletion (frameshift variant) | Retinitis pigmentosa | |
| | | Single nucleotide variant (splice donor variant) | Retinitis pigmentosa | |
| | | Single nucleotide variant (nonsense) | not provided | |
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