| | | 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 (nonsense) | 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) | Neural tube defects, folate-sensitive +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +5 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense 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 (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift 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) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Abnormality of metabolism/homeostasis +1 more | |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neural tube defects, folate-sensitive +1 more | GConflicting classifications of pathogenicity |