| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC126860392, RP1 (Y1636*) | Single nucleotide variant (nonsense +1 more) | Retinitis pigmentosa 1 | |
| | LOC126860392, RP1 (A1792G) | Single nucleotide variant (missense variant) | Retinal pigment epithelial atrophy +3 more | |
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