| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Duplication (frameshift variant) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | |
| | | Deletion (nonsense) | Mitochondrial disease +1 more | |
| | | Single nucleotide variant (nonsense) | Mitochondrial DNA depletion syndrome 8a | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 8a | |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progressive external ophthalmoplegia | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 8a | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 8B (MNGIE type) | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 8a +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Deletion (inframe_deletion) | Mitochondrial DNA depletion syndrome 8a +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
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