| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | DGUOK, LOC129934096 (P22L) | Single nucleotide variant (missense variant +2 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +8 more | |
| | | Single nucleotide variant (missense variant +2 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +7 more | |
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