| | | Single nucleotide variant | Cobalamin C disease +1 more | |
| | | 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 +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cobalamin C disease | |
| | | Deletion (5 prime UTR variant +1 more) | Cobalamin C disease | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cobalamin C disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cobalamin C disease +1 more | |
| | | 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 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cobalamin C disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cobalamin C disease +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | See cases +1 more | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease +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 +1 more | |
| | | Duplication (frameshift variant) | MMACHC-related disorder +6 more | |
| | | Microsatellite (frameshift variant) | Cobalamin C disease | |
| | | Single nucleotide variant (synonymous variant) | Cobalamin C disease | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | |
| | | Single nucleotide variant (intron variant) | Cobalamin C disease | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | |
| | | Deletion (inframe_deletion) | Cobalamin C disease | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | |
| | | Indel (frameshift variant) | Cobalamin C disease | |
| | | Single nucleotide variant (missense variant) | Disorders of Intracellular Cobalamin Metabolism +3 more | GConflicting classifications of pathogenicity |
| | | Indel (inframe_indel) | Cobalamin C disease +1 more | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease +1 more | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease +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 | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | Cobalamin C disease | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | |
| | | Microsatellite (inframe_deletion) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Cobalamin C disease | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | MMACHC-related disorder +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Deletion (frameshift variant) | Cobalamin C disease | |
| | | Single nucleotide variant (missense variant) | Disorders of Intracellular Cobalamin Metabolism +1 more | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | |
| | | Single nucleotide variant (nonsense) | Cobalamin C disease | |
| | | Deletion (inframe_deletion) | Cobalamin C disease | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Cobalamin C disease | |
| | | Microsatellite (frameshift variant) | Cobalamin C disease | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Cobalamin C disease | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease +2 more | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | |
| | | Microsatellite (frameshift variant) | Cobalamin C disease +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Cobalamin C disease | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Disorders of Intracellular Cobalamin Metabolism +2 more | GConflicting classifications of pathogenicity |
| | | 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 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Cobalamin C disease | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Deletion (frameshift variant) | Cobalamin C disease | |
| | | Insertion (nonsense) | Cobalamin C disease | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | |
| | | Duplication (frameshift variant) | Cobalamin C disease | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Cobalamin C disease | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | |
| | | Deletion (frameshift variant) | Cobalamin C disease | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Cobalamin C disease | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | |
| | | Deletion (frameshift variant) | Cobalamin C disease | |
| | | Duplication (nonsense) | Cobalamin C disease | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Cobalamin C disease | |