| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cobalamin C disease +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | not specified +5 more | |
| | | Single nucleotide variant (synonymous variant) | Cobalamin C disease | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | |
| | | Single nucleotide variant (nonsense) | Cobalamin C disease +1 more | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Cobalamin C disease +3 more | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease +2 more | |
| | LOC129930446, MMACHC (W203* +1 more) | Single nucleotide variant (nonsense) | Cobalamin C disease +1 more | |
| | LOC129930446, MMACHC (K220del +1 more) | Deletion (inframe_deletion) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Cobalamin C disease +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC | |
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