| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | DGUOK, LOC129934096 (E24Q) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | DGUOK, LOC129934096 (I43M) | Single nucleotide variant (missense variant +2 more) | not provided | |
Click to view in NCBI Gene