| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC126860392, RP1 (G1649E) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | LOC126860392, RP1 (K1653fs) | Deletion (frameshift variant +1 more) | Retinal dystrophy | |
| | LOC126860392, RP1 (V1656G) | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | RP1, LOC126860392 (Y1673fs) | Deletion (frameshift variant) | Retinitis pigmentosa 1 +2 more | GPathogenic/Likely pathogenic |
| | LOC126860392, RP1 (I1988fs) | Duplication (frameshift variant) | Retinitis pigmentosa +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene