| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication | Cortical dysplasia-focal epilepsy syndrome | |
| | | Duplication | Cortical dysplasia-focal epilepsy syndrome | |
| | | Duplication | Cortical dysplasia-focal epilepsy syndrome | |
| | | Duplication | Cortical dysplasia-focal epilepsy syndrome | |
| | | Duplication | Cortical dysplasia-focal epilepsy syndrome | |
| | | Deletion | Cortical dysplasia-focal epilepsy syndrome | |
| | | Deletion | Cortical dysplasia-focal epilepsy syndrome | |
| | | Duplication | Weaver syndrome | |
| | | Single nucleotide variant (missense variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (synonymous variant) | CNTNAP2-related disorder | |
| | | Single nucleotide variant (missense variant) | CNTNAP2-related disorder | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Autism spectrum disorder | |
| | | Duplication | Autism spectrum disorder | |
| | | Single nucleotide variant (synonymous variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (intron variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (synonymous variant) | CNTNAP2-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (intron variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (intron variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (intron variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (intron variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (intron variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Duplication (synonymous variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (intron variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (intron variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (intron variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (intron variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (intron variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Insertion (intron variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Microsatellite (intron variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (intron variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (missense variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (intron variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (nonsense) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (intron variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (intron variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (intron variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (missense variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (intron variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (intron variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (missense variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (intron variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (intron variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (missense variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (intron variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (nonsense) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (nonsense) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (intron variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (intron variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (missense variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cortical dysplasia-focal epilepsy syndrome | |
| | | Single nucleotide variant (intron variant) | Cortical dysplasia-focal epilepsy syndrome | |