| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126806913, OPA1 (L534R +9 more) | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | |
| | LOC126806913, OPA1 (S545R +9 more) | Single nucleotide variant (missense variant) | Autosomal dominant optic atrophy classic form +1 more | |
| | LOC126806913, OPA1 (C551Y +9 more) | Single nucleotide variant (missense variant) | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | |
| | | Single nucleotide variant (splice donor variant) | Abortive cerebellar ataxia | |
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