| | | Deletion | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (synonymous variant +3 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Microsatellite (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (synonymous variant +3 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (synonymous variant +3 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (missense variant +2 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (missense variant +3 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (nonsense +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (nonsense +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Insertion (3 prime UTR variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Deletion (frameshift variant +3 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Deletion (frameshift variant +2 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (missense variant +2 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (synonymous variant +3 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (missense variant +2 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (synonymous variant +3 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Deletion (frameshift variant +2 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Deletion (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (synonymous variant +3 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | LOC125312417, STRADA (H118R +5 more) | Single nucleotide variant (missense variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (nonsense +2 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | LOC125312417, STRADA (I128V +5 more) | Single nucleotide variant (missense variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (missense variant +2 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (missense variant +2 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (splice acceptor variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (intron variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |
| | | Single nucleotide variant (missense variant) | Polyhydramnios, megalencephaly, and symptomatic epilepsy | |