| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Autosomal dominant optic atrophy classic form +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant optic atrophy classic form +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal dominant optic atrophy classic form +2 more | |
| | | Single nucleotide variant (splice donor variant) | Autosomal dominant optic atrophy classic form | |
Click to view in NCBI Gene