| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Seizure | |
| | | Single nucleotide variant (missense variant) | Seizure | |
| | | Single nucleotide variant (missense variant +1 more) | Seizures, benign familial infantile, 3 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Seizures, benign familial infantile, 3 +2 more | GConflicting classifications of pathogenicity |
| | LOC102724058, SCN1A (N1083K +5 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | LOC102724058, SCN1A (I1185T +5 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts +1 more | GConflicting classifications of pathogenicity |
| | LOC102724058, SCN1A (D1024V +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (missense variant +1 more) | Seizure | |
| | | Single nucleotide variant (missense variant +1 more) | SCN1A-related disorder +4 more | |
| | | Deletion (frameshift variant +2 more) | Seizure | |
| | | Single nucleotide variant (missense variant +2 more) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (nonsense +2 more) | Seizure | |
| | | Duplication (frameshift variant +2 more) | Seizure | |
| | | Single nucleotide variant (nonsense +2 more) | Early infantile epileptic encephalopathy with suppression bursts +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Single nucleotide variant (splice donor variant) | Severe myoclonic epilepsy in infancy | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Seizure | |
| | | Single nucleotide variant (splice donor variant) | Seizure | |
| | | Single nucleotide variant (missense variant) | Seizure | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (missense variant) | Seizure | |
| | | Single nucleotide variant (missense variant) | Seizure | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Seizure | |
| | | Single nucleotide variant (missense variant) | Seizure | |
| | | Single nucleotide variant (missense variant) | Familial temporal lobe epilepsy 7 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Seizure | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 4 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 14 +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Hereditary cancer-predisposing syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Seizure | |
| | | Single nucleotide variant (missense variant) | Seizure | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (missense variant) | Seizures, benign familial infantile, 5 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Seizure | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder +2 more | GPathogenic/Likely pathogenic |
| | HBA-LCR, NPRL3 (P302L +3 more) | Single nucleotide variant (missense variant) | Epilepsy, familial focal, with variable foci 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Epilepsy, familial focal, with variable foci 3 | |
| | | Single nucleotide variant (missense variant) | not specified +6 more | |
| | | Microsatellite (frameshift variant) | Neurodevelopmental delay +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Seizure | |
| | | Single nucleotide variant (missense variant) | Seizure | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Seizure | |
| | | Single nucleotide variant (missense variant) | Seizure | |
| | | Single nucleotide variant (intron variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Seizure | |
| | | Single nucleotide variant (missense variant) | Seizure | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Seizure | |
| | | Single nucleotide variant (nonsense) | DYRK1A-related intellectual disability syndrome +3 more | |
| | | Duplication (frameshift variant) | Intellectual disability | |
| | | Single nucleotide variant (nonsense +1 more) | Seizure +2 more | |
| | | Single nucleotide variant (splice donor variant) | Seizure | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked, with or without seizures, arx-related +2 more | |
| | | Single nucleotide variant (missense variant) | Seizure | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, CASK-related, X-linked +1 more | |
| | | Single nucleotide variant (nonsense) | Seizure | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +5 more | |
| | | Single nucleotide variant (intron variant) | Seizure | |
| | | Single nucleotide variant (missense variant) | Seizure | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Duplication (frameshift variant) | not provided +3 more | |
| | FLNA, LOC107988032 (V2584G +1 more) | Single nucleotide variant (missense variant) | Seizure | |