| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | not specified +5 more | |
| | | Single nucleotide variant (nonsense) | Cobalamin C disease +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | LOC129930446, MMACHC (W203* +1 more) | Single nucleotide variant (nonsense) | Cobalamin C disease +1 more | |
Click to view in NCBI Gene