| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 11 | |
| | PRPF31, PRPF31-AS1 (A302fs) | Deletion (frameshift variant) | Retinitis pigmentosa 11 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 11 | |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 11 | |
| | | Copy number loss | Retinitis pigmentosa 11 | |
Click to view in NCBI Gene