| | | Copy number loss | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | MTHFR-related condition | |
| | | Single nucleotide variant (intron variant) | MTHFR-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | MTHFR-related condition | |
| | | Single nucleotide variant (intron variant) | MTHFR-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | MTHFR-related condition | |
| | | Single nucleotide variant (intron 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 | |
| | | Deletion (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Deletion (inframe_deletion) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Deletion (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Deletion (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Duplication (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (nonsense) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (nonsense) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Deletion (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron 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 | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (nonsense) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Deletion (frameshift variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Duplication (frameshift variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Deletion (frameshift variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Deletion (frameshift variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron 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 | |
| | | Single nucleotide variant (nonsense) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (splice donor variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Deletion (frameshift variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Deletion (intron 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 | |
| | | 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 (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Microsatellite (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron 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 | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Duplication (intron variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |