| | | Duplication | Transcobalamin II deficiency | |
| | | Deletion | Transcobalamin II deficiency | |
| | | Deletion | Transcobalamin II deficiency | |
| | | Deletion | Transcobalamin II deficiency | |
| | | Deletion | Transcobalamin II deficiency | |
| | | Single nucleotide variant (synonymous variant) | Transcobalamin II deficiency | |
| | | Single nucleotide variant (intron variant) | Transcobalamin II deficiency | |
| | | Single nucleotide variant (synonymous variant) | Transcobalamin II deficiency | |
| | | Single nucleotide variant (intron variant) | Transcobalamin II deficiency | |
| | | Single nucleotide variant (synonymous variant) | Transcobalamin II deficiency | |
| | | Single nucleotide variant (synonymous variant) | Transcobalamin II deficiency | |
| | | Single nucleotide variant (intron variant) | Transcobalamin II deficiency | |
| | | Single nucleotide variant (intron variant) | Transcobalamin II deficiency | |
| | | Single nucleotide variant (intron variant) | Transcobalamin II deficiency | |
| | | Single nucleotide variant (synonymous variant) | Transcobalamin II deficiency | |
| | | Single nucleotide variant (synonymous variant) | Transcobalamin II deficiency | |
| | LOC121853040, TCN2 (V13fs) | Deletion (frameshift variant) | Transcobalamin II deficiency | |
| | | Single nucleotide variant (synonymous variant) | Transcobalamin II deficiency | |
| | | Single nucleotide variant (intron variant) | Transcobalamin II deficiency | |
| | | Single nucleotide variant (missense variant) | Transcobalamin II deficiency | |
| | | Single nucleotide variant (intron variant) | Transcobalamin II deficiency | |
| | | Single nucleotide variant (intron variant) | Transcobalamin II deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Transcobalamin II deficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Transcobalamin II deficiency | |
| | | Single nucleotide variant (intron variant) | Transcobalamin II deficiency | |
| | | Single nucleotide variant (missense variant) | Transcobalamin II deficiency | |
| | | Single nucleotide variant (missense variant) | Transcobalamin II deficiency | |
| | | Single nucleotide variant (missense variant) | Transcobalamin II deficiency | |
| | | Indel (missense variant) | Transcobalamin II deficiency | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (frameshift variant) | Transcobalamin II deficiency | |
| | | Single nucleotide variant (synonymous variant) | Transcobalamin II deficiency | |
| | | Single nucleotide variant (missense variant) | Transcobalamin II deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | Transcobalamin II deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | Transcobalamin II deficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Transcobalamin II deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Transcobalamin II deficiency | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Transcobalamin II deficiency +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Transcobalamin II deficiency +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Transcobalamin II deficiency | |
| | | Single nucleotide variant (nonsense) | Transcobalamin II deficiency | |