| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | |
| | LOC130009747, SUCLA2 (R17G) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene