| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | |
| | DGUOK, DGUOK-AS1 (E161del +4 more) | Microsatellite (inframe_deletion +1 more) | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | |
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