| | LOC129929105, LOC129929106 +2149 more | Copy number gain | Trisomy 12p | |
| | TMEM201, TMEM240 +806 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +804 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +500 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +505 more | Copy number loss | See cases | |
| | LOC129929300, LOC129929301 +730 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +557 more | Copy number loss | See cases | |
| | PRAMEF7, PRAMEF8 +563 more | Copy number gain | See cases | |
| | AADACL3, AADACL4 +387 more | Copy number gain | See cases | |
| | AADACL3, AADACL4 +386 more | Copy number loss | See cases | |
| | LOC129929417, LOC129929418 +309 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +462 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129929360, LOC129929361 +370 more | Copy number loss | See cases | |
| | LOC110120623, LOC110120648 +361 more | Duplication | not specified | |
| | AADACL3, AADACL4 +304 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +337 more | Copy number loss | See cases | |
| | LOC112577504, LOC112577505 +316 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +209 more | Copy number gain | See cases | |
| | AADACL3, AADACL4 +288 more | Copy number loss | See cases | |
| | C1orf167-AS1, AADACL3 +104 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication (3 prime UTR variant +1 more) | Neural tube defects, folate-sensitive | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neural tube defects, folate-sensitive | |
| | | Duplication (3 prime UTR variant +1 more) | Neural tube defects, folate-sensitive | |
| | | Deletion (3 prime UTR variant +1 more) | Neural tube defects, folate-sensitive | |
| | | Deletion (3 prime UTR variant +1 more) | Neural tube defects, folate-sensitive | |
| | | Deletion (3 prime UTR variant +1 more) | Neural tube defects, folate-sensitive | |
| | | Single nucleotide variant (missense variant +1 more) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | GConflicting classifications of pathogenicity |
| | C1orf167, MTHFR (L1303del) | Deletion (inframe_deletion +1 more) | Neural tube defects, folate-sensitive | |
| | | Single nucleotide variant (synonymous variant +1 more) | Neural tube defects, folate-sensitive | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Neural tube defects, folate-sensitive | |
| | | Single nucleotide variant (3 prime UTR variant) | Neural tube defects, folate-sensitive | |
| | | Deletion (3 prime UTR variant) | Neural tube defects, folate-sensitive | |
| | | Insertion (3 prime UTR variant) | Neural tube defects, folate-sensitive | |
| | | Single nucleotide variant (3 prime UTR variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Duplication (3 prime UTR variant) | Neural tube defects, folate-sensitive | |
| | | Deletion (3 prime UTR variant) | Neural tube defects, folate-sensitive | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (stop lost) | Neural tube defects, folate-sensitive +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (stop lost) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +6 more | |
| | | Single nucleotide variant (missense variant) | MTHFR-related condition +3 more | |
| | | 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) | Inborn genetic diseases | |
| | | 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 | |
| | | Single nucleotide variant (missense 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 | |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (missense variant) | MTHFR-related condition +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 | |
| | | 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 (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 | |
| | | 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 (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous 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 (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +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 | |
| | | 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 (frameshift variant) | Neural tube defects, folate-sensitive | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | 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 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Microsatellite (inframe_deletion +1 more) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Inversion (missense 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) | Inborn genetic diseases | |
| | | Indel (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 | |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |