| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense +1 more) | Retinitis pigmentosa 1 +1 more | |
| | | Duplication (frameshift variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | LOC126860392, RP1 (R1933*) | Single nucleotide variant (nonsense) | Retinitis pigmentosa 1 +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene