| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 88 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Retinitis pigmentosa 88 | |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 88 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | RP1L1-related disorder +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene