| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cobalamin C disease +3 more | |
| | | Single nucleotide variant (synonymous variant) | Disorders of Intracellular Cobalamin Metabolism +3 more | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene