| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | OPA1, OPA1-AS1 (S200F +5 more) | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice acceptor variant) | Autosomal dominant optic atrophy classic form +8 more | GPathogenic/Likely pathogenic |
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