| | | Single nucleotide variant (missense variant) | Cobalamin C disease | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | |
| | LOC129930446, MMACHC (Q172fs +1 more) | Deletion (frameshift variant) | Cobalamin C disease | |
| | LOC129930446, MMACHC (Q162E +1 more) | Single nucleotide variant (missense variant) | Cobalamin C disease | |
| | MMACHC, LOC129930446 (D145Y +1 more) | Single nucleotide variant (missense variant) | Cobalamin C disease | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | |
| | | Deletion | Cobalamin C disease | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cobalamin C disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cobalamin C disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cobalamin C disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cobalamin C disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cobalamin C disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cobalamin C disease | |
| | LOC129930446, MMACHC (T147I +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion | Cobalamin C disease | |
| | | Single nucleotide variant (nonsense) | Cobalamin C disease | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Cobalamin C disease | |
| | | Single nucleotide variant (splice acceptor variant) | Cobalamin C disease | |
| | | Deletion (inframe_deletion) | Cobalamin C disease | |
| | | Single nucleotide variant (intron variant) | Cobalamin C disease | |
| | | Single nucleotide variant (intron variant) | Cobalamin C disease | |
| | | Single nucleotide variant (synonymous variant) | Cobalamin C disease | |
| | | Single nucleotide variant (synonymous variant) | Cobalamin C disease | |
| | | Single nucleotide variant (synonymous variant) | Cobalamin C disease | |
| | | Single nucleotide variant (intron variant) | Cobalamin C disease | |
| | | Single nucleotide variant (intron variant) | Cobalamin C disease | |
| | | Single nucleotide variant (intron variant) | Cobalamin C disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cobalamin C disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cobalamin C disease | |
| | | Single nucleotide variant (intron variant) | Cobalamin C disease | |
| | | Single nucleotide variant (intron variant) | Cobalamin C disease | |
| | | Single nucleotide variant (intron variant) | Cobalamin C disease | |
| | | Deletion (5 prime UTR variant) | Cobalamin C disease | |
| | | Single nucleotide variant (intron variant) | Cobalamin C disease | |
| | | Single nucleotide variant (intron variant) | Cobalamin C disease | |
| | | Single nucleotide variant (synonymous variant) | Cobalamin C disease | |
| | | Single nucleotide variant (synonymous variant) | Cobalamin C disease | |
| | | Inversion (missense variant) | Cobalamin C disease | |
| | | Single nucleotide variant (intron variant) | Cobalamin C disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cobalamin C disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cobalamin C disease | |
| | LOC129930446, MMACHC (R157fs +1 more) | Duplication (frameshift variant) | Cobalamin C disease | |
| | | Single nucleotide variant (intron variant) | Cobalamin C disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cobalamin C disease | |
| | | Single nucleotide variant (synonymous variant) | Cobalamin C disease | |
| | | Single nucleotide variant (synonymous variant) | Cobalamin C disease | |
| | | Deletion (frameshift variant) | Cobalamin C disease | |
| | | Duplication (frameshift variant) | Cobalamin C disease | |
| | | Single nucleotide variant (synonymous variant) | Cobalamin C disease | |
| | | Deletion (frameshift variant) | Cobalamin C disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cobalamin C disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cobalamin C disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cobalamin C disease | |
| | | Single nucleotide variant (synonymous variant) | Cobalamin C disease | |
| | | Single nucleotide variant (intron variant) | Cobalamin C disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cobalamin C disease | |
| | | Deletion (splice donor variant) | Cobalamin C disease | |
| | | Single nucleotide variant (synonymous variant) | Cobalamin C disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cobalamin C disease | |
| | | Single nucleotide variant (intron variant) | Cobalamin C disease | |
| | | Deletion (5 prime UTR variant +1 more) | Cobalamin C disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cobalamin C disease | |
| | LOC129930446, MMACHC (Y148* +1 more) | Duplication (nonsense) | Cobalamin C disease | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Cobalamin C disease | |
| | | Single nucleotide variant (synonymous variant) | Cobalamin C disease | |
| | | Single nucleotide variant (intron variant) | Cobalamin C disease | |
| | | Deletion (intron variant) | Cobalamin C disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cobalamin C disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cobalamin C disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cobalamin C disease | |
| | | Single nucleotide variant (intron variant) | Cobalamin C disease | |
| | | Single nucleotide variant (synonymous variant) | Cobalamin C disease | |
| | | Single nucleotide variant (intron variant) | Cobalamin C disease | |
| | | Single nucleotide variant (intron variant) | Cobalamin C disease | |
| | | Single nucleotide variant (intron variant) | Cobalamin C disease | |
| | | Deletion (intron variant) | Cobalamin C disease | GConflicting classifications of pathogenicity |
| | | Deletion (5 prime UTR variant +1 more) | Cobalamin C disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cobalamin C disease | |
| | | Single nucleotide variant (intron variant) | Cobalamin C disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cobalamin C disease | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Cobalamin C disease | |
| | | Single nucleotide variant (intron variant) | Cobalamin C disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cobalamin C disease | |
| | | Insertion (intron variant) | Cobalamin C disease | |
| | | Single nucleotide variant (splice acceptor variant) | Cobalamin C disease | |
| | | Single nucleotide variant (synonymous variant) | Cobalamin C disease | |
| | | Single nucleotide variant (synonymous variant) | Cobalamin C disease | |
| | | Single nucleotide variant (synonymous variant) | Cobalamin C disease | |
| | | Duplication (frameshift variant +1 more) | Cobalamin C disease | |
| | | Single nucleotide variant (splice donor variant) | Cobalamin C disease | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cobalamin C disease | |
| | LOC129930446, MMACHC (Q155fs +1 more) | Deletion (frameshift variant) | Cobalamin C disease | |
| | | Deletion (frameshift variant) | Cobalamin C disease | |