| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +2 more) | Cobalamin C disease +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Methylmalonic acidemia with homocystinuria, type cblJ | |
Click to view in NCBI Gene