| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Transcobalamin II deficiency | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Transcobalamin II deficiency | |
| | | Single nucleotide variant (missense variant) | Transcobalamin II deficiency +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene