| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Pigmentary retinal dystrophy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Patterned macular dystrophy 1 +6 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene