| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | MTHFR-related condition +4 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +4 more | GBenign/Likely benign; other |
| | | Single nucleotide variant (missense variant) | MTHFR-related condition +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Neural tube defects, folate-sensitive +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (synonymous variant) | MTHFR-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | |
Click to view in NCBI Gene