| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cobalamin C disease +3 more | GPathogenic/Likely pathogenic |
| | LOC129930446, MMACHC (Y222* +1 more) | Single nucleotide variant (nonsense) | not provided +1 more | |
Click to view in NCBI Gene