| | | Single nucleotide variant (nonsense) | Seizures, benign familial infantile, 3 +4 more | GPathogenic/Likely pathogenic |
| | LOC102724058, SCN1A (S1655F +5 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts +1 more | GPathogenic/Likely pathogenic |
| | LOC102724058, SCN1A (T1647M +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy +1 more | GPathogenic/Likely pathogenic |
| | LOC102724058, SCN1A (D1597Y +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy +3 more | GPathogenic/Likely pathogenic |
| | LOC102724058, SCN1A (P1440L +5 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +2 more) | Intellectual disability +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Severe myoclonic epilepsy in infancy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | See cases +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Deletion (frameshift variant) | Early infantile epileptic encephalopathy with suppression bursts +2 more | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +4 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 7 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +4 more | |
| | | Single nucleotide variant (missense variant) | KCNQ2-Related Disorders +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 7 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |