| | | Single nucleotide variant (missense variant +1 more) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (stop lost) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (stop lost) | Neural tube defects, folate-sensitive | |
| | | Deletion (frameshift variant) | Neural tube defects, folate-sensitive | |
| | | Single nucleotide variant (nonsense) | Neural tube defects, folate-sensitive | |
| | | Single nucleotide variant (nonsense) | Neural tube defects, folate-sensitive | |
| | | Deletion (frameshift variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Neural tube defects, folate-sensitive +1 more | |
| | | Deletion (splice donor variant) | Neural tube defects, folate-sensitive | |
| | | Single nucleotide variant (splice donor variant) | Neural tube defects, folate-sensitive +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Neural tube defects, folate-sensitive +1 more | |
| | | Single nucleotide variant (nonsense) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Neural tube defect +1 more | |
| | | Single nucleotide variant (nonsense) | Neural tube defects, folate-sensitive | |
| | | Duplication (frameshift variant) | Neural tube defects, folate-sensitive | |
| | | Single nucleotide variant (splice donor variant) | Neural tube defects, folate-sensitive +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (missense 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 | |
| | | Duplication (frameshift variant) | Neural tube defects, folate-sensitive | |
| | | Microsatellite (frameshift variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Neural tube defects, folate-sensitive +1 more | |
| | | Single nucleotide variant (splice donor variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neural tube defects, folate-sensitive +2 more | |
| | | Single nucleotide variant (nonsense) | Neural tube defects, folate-sensitive | |
| | | Deletion (frameshift variant) | Neural tube defects, folate-sensitive | |
| | | Single nucleotide variant (nonsense) | Neural tube defects, folate-sensitive +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Neural tube defects, folate-sensitive | |
| | | Deletion (frameshift variant) | Neural tube defects, folate-sensitive | |
| | | Single nucleotide variant (nonsense) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | |
| | | Single nucleotide variant (splice donor variant) | Neural tube defects, folate-sensitive | |
| | | Single nucleotide variant (splice donor variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Neural tube defects, folate-sensitive +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Neural tube defects, folate-sensitive | |
| | | Deletion (frameshift variant) | Neural tube defects, folate-sensitive | |
| | | Single nucleotide variant (missense variant) | Neural tube defects, folate-sensitive +2 more | |
| | | Single nucleotide variant (nonsense) | Neural tube defects, folate-sensitive | |
| | | Deletion (splice acceptor variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Neural tube defects, folate-sensitive +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Neural tube defects, folate-sensitive | |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +2 more | |
| | | Indel (frameshift variant) | Neural tube defects, folate-sensitive | |
| | | Single nucleotide variant (nonsense) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Neural tube defects, folate-sensitive +1 more | |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Neural tube defects, folate-sensitive +1 more | |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neural tube defects, folate-sensitive +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | |
| | | Duplication (frameshift variant) | Neural tube defects, folate-sensitive | |
| | | Single nucleotide variant (missense variant) | Neural tube defects, folate-sensitive +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Neural tube defects, folate-sensitive | |
| | | Single nucleotide variant (missense variant) | Neural tube defects, folate-sensitive +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Insertion (frameshift variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Neural tube defects, folate-sensitive | |
| | | Single nucleotide variant (missense variant) | Neural tube defects, folate-sensitive +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Neural tube defects, folate-sensitive | |
| | | Single nucleotide variant (nonsense) | Neural tube defects, folate-sensitive | |
| | | Single nucleotide variant (splice donor variant) | Neural tube defects, folate-sensitive | |
| | | Single nucleotide variant (missense variant) | Neural tube defects, folate-sensitive +1 more | |
| | | Deletion (frameshift variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Indel (frameshift variant) | Neural tube defects, folate-sensitive | |
| | | Single nucleotide variant (missense variant) | Neural tube defects, folate-sensitive +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Neural tube defects, folate-sensitive | |
| | | Single nucleotide variant (splice acceptor variant) | Neural tube defects, folate-sensitive | |
| | | Single nucleotide variant (splice donor variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Neural tube defects, folate-sensitive +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neural tube defects, folate-sensitive +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neural tube defects, folate-sensitive | |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neural tube defects, folate-sensitive +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | |
| | | Single nucleotide variant (nonsense) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Neural tube defects, folate-sensitive | |
| | | Single nucleotide variant (nonsense) | Neural tube defects, folate-sensitive | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Neural tube defects, folate-sensitive +1 more | |
| | | Single nucleotide variant (missense variant) | Neural tube defects, folate-sensitive +1 more | |
| | | Deletion (frameshift variant) | Neural tube defects, folate-sensitive | |
| | | Duplication (frameshift variant) | Neural tube defects, folate-sensitive | |
| | | Deletion (frameshift variant) | Neural tube defects, folate-sensitive | |
| | | Copy number loss | not provided | |