| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129930446, MMACHC (W203* +1 more) | Single nucleotide variant (nonsense) | Cobalamin C disease +1 more | |
| | MMACHC, LOC129930446 (A228V +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
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