| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Optic atrophy | |
| | | Single nucleotide variant (missense variant +2 more) | Retinal dystrophy | |
| | | Insertion (frameshift variant) | Retinal dystrophy +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene