| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | 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) | OPA1-related disorder +7 more | GConflicting classifications of pathogenicity |
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