| | | Single nucleotide variant (synonymous variant) | Thrombophilia due to thrombin defect +6 more | |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +3 more | |
| | | Single nucleotide variant (splice donor variant) | Neural tube defects, folate-sensitive +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neural tube defects, folate-sensitive +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +4 more | |
| | | Microsatellite (frameshift variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +3 more | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +4 more | |
| | | Single nucleotide variant (synonymous variant) | Neural tube defects, folate-sensitive +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Thrombophilia due to thrombin defect +4 more | |
| | | Single nucleotide variant (missense variant) | Schizophrenia +4 more | GConflicting classifications of pathogenicity |
| | | 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) | 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 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +4 more | |