| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +3 more | |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (missense variant) | MTHFR-related condition +3 more | GBenign/Likely benign; other |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Neural tube defects, folate-sensitive +1 more | |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +3 more | |
| | | Single nucleotide variant (synonymous variant) | MTHFR-related condition +3 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (splice donor variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | MTHFR-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (missense variant) | MTHFR-related condition +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | MTHFR-related condition +4 more | |
| | | Microsatellite (frameshift variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | |
| | | Single nucleotide variant (nonsense) | Neural tube defects, folate-sensitive +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | MTHFR-related condition +4 more | GBenign/Likely benign; other |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | MTHFR-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Deletion (inframe_deletion) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | GPathogenic/Likely pathogenic |
| | | Deletion (splice acceptor variant) | Neural tube defects, folate-sensitive +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (missense variant) | Neural tube defects, folate-sensitive +1 more | |
| | | Single nucleotide variant (nonsense) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | 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 | |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | 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 (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | MTHFR-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (missense variant) | methotrexate response - Toxicity | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neural tube defects, folate-sensitive +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Schizophrenia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | |
| | | Single nucleotide variant (nonsense) | Neural tube defects, folate-sensitive +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neural tube defects, folate-sensitive +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | 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) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |