| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Autosomal dominant optic atrophy classic form | |
| | | Deletion (splice acceptor variant) | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal dominant optic atrophy classic form | |
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