| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Abortive cerebellar ataxia | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant optic atrophy classic form +1 more | |
| | | Single nucleotide variant (missense variant) | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal dominant optic atrophy classic form +7 more | GConflicting classifications of pathogenicity |
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