| | | Deletion (frameshift variant) | Intellectual disability, autosomal dominant 5 | |
| | | Deletion (frameshift variant) | Neurodegeneration with brain iron accumulation 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 74 | |
| | LOC102724058, SCN1A (T1541fs +5 more) | Deletion (frameshift variant +1 more) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (splice acceptor variant) | Landau-Kleffner syndrome | |
| | | Duplication (frameshift variant) | Developmental and epileptic encephalopathy, 9 | |
| | LOC102724058, SCN1A (G1246V +5 more) | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy 6B | |
| | | Single nucleotide variant (nonsense +1 more) | SLC35A2-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 9 | |
| | | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 32 | |
| | | Single nucleotide variant (missense variant) | Benign neonatal seizures +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Tuberous sclerosis 1 | |
| | | Single nucleotide variant (missense variant) | Benign neonatal seizures | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neuronal ceroid lipofuscinosis 2 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy 94 | |
| | | Single nucleotide variant (splice donor variant) | Developmental and epileptic encephalopathy, 4 | |