| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | GConflicting classifications of pathogenicity |
| | DGUOK, DGUOK-AS1 (L250S +4 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +2 more | GConflicting classifications of pathogenicity |
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