| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | MMACHC-related condition +5 more | |
| | | Single nucleotide variant (missense variant) | Disorders of Intracellular Cobalamin Metabolism +3 more | |
| | | Single nucleotide variant (nonsense) | Cobalamin C disease +1 more | |
| | | Single nucleotide variant (nonsense) | cblC type of combined methylmalonic aciduria and homocystinuria +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene