| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Methylmalonic acidemia +2 more | |
| | | Duplication (frameshift variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more | |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +4 more | |
Click to view in NCBI Gene