| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 +3 more | |
| | | Microsatellite (frameshift variant +2 more) | Mitochondrial DNA depletion syndrome, myopathic form +1 more | |
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