| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Usher syndrome type 2 +10 more | |
| | | Single nucleotide variant (missense variant) | Night blindness +4 more | |
| | | Single nucleotide variant (nonsense +2 more) | Retinitis pigmentosa +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Retinitis pigmentosa 26 +4 more | GPathogenic/Likely pathogenic |
| | LOC126860392, RP1 (A1792G) | Single nucleotide variant (missense variant) | Retinal pigment epithelial atrophy +3 more | |
Click to view in NCBI Gene