| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126860392, RP1 (Y1636*) | Single nucleotide variant (nonsense +1 more) | Retinitis pigmentosa 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy +2 more | |
Click to view in NCBI Gene