| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Methylmalonic aciduria, cblB type | |
| | | Microsatellite (inframe_deletion +1 more) | Methylmalonic aciduria, cblB type | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (genic upstream transcript variant) | Methylmalonic acidemia +1 more | |
Click to view in NCBI Gene