| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (5 prime UTR variant +2 more) | MTRR-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | MTRR-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Disorders of Intracellular Cobalamin Metabolism +4 more | |
| | | Deletion (frameshift variant +1 more) | Methylcobalamin deficiency type cblE +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | MTRR-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Methylcobalamin deficiency type cblE +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Methylcobalamin deficiency type cblE +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Methylcobalamin deficiency type cblE +2 more | |
| | | Duplication (splice acceptor variant) | MTRR-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Disorders of Intracellular Cobalamin Metabolism +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Methylcobalamin deficiency type cblE +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Methylcobalamin deficiency type cblE +1 more | |
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