| | A3GALT2, ACOT11 +1226 more | Inversion | Bilateral polymicrogyria | |
| | | Single nucleotide variant | not provided | |
| | | Duplication | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Deletion | Congenital primary aphakia +1 more | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | FOXE3-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital primary aphakia +1 more | |
| | | Deletion (frameshift variant +1 more) | Congenital primary aphakia +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital primary aphakia +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Congenital primary aphakia +2 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital primary aphakia +2 more | |
| | | Duplication (frameshift variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +4 more | |
| | | Deletion (frameshift variant) | Congenital primary aphakia +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital primary aphakia +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital primary aphakia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | FOXE3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Congenital primary aphakia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital primary aphakia +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital primary aphakia +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital primary aphakia +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Congenital primary aphakia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital primary aphakia +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Anterior segment dysgenesis +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Congenital primary aphakia +2 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital primary aphakia +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Congenital primary aphakia +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Congenital primary aphakia +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital primary aphakia +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | FOXE3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Congenital primary aphakia +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital primary aphakia +1 more | |
| | | Single nucleotide variant (missense variant) | Anterior segment dysgenesis +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | FOXE3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Congenital primary aphakia +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | FOXE3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Anterior segment dysgenesis +2 more | |
| | | Single nucleotide variant (synonymous variant) | Anterior segment dysgenesis +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Deletion (inframe_deletion) | Congenital primary aphakia +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | FOXE3-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital primary aphakia +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (synonymous variant) | Anterior segment dysgenesis +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Congenital primary aphakia +1 more | |
| | | Single nucleotide variant (nonsense) | Anterior segment dysgenesis +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | |
| | | Duplication (frameshift variant) | Congenital primary aphakia | |
| | | Single nucleotide variant (synonymous variant) | Congenital primary aphakia +1 more | |
| | | Single nucleotide variant (missense variant) | Anterior segment dysgenesis +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | | Single nucleotide variant (missense variant) | Congenital primary aphakia +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Congenital primary aphakia +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital primary aphakia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |