| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant +1 more) | Transcobalamin II deficiency | |
| | | Single nucleotide variant (intron variant) | Transcobalamin II deficiency | |
| | | Single nucleotide variant (missense variant) | Transcobalamin II deficiency +2 more | |
| | | Deletion (frameshift variant) | Transcobalamin II deficiency | |
| | | Indel (splice acceptor variant +1 more) | Transcobalamin II deficiency | |
Click to view in NCBI Gene