| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number loss | Epilepsy of infancy with migrating focal seizures | |
| | | Copy number loss | West syndrome | |
| | LOC102724058, SCN1A (F1017fs +5 more) | Duplication (frameshift variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | LOC102724058, SCN1A (M1009fs +5 more) | Deletion (frameshift variant +1 more) | Epileptic encephalopathy | |
| | LOC102724058, SCN1A (A1772T +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy +5 more | |
| | LOC102724058, SCN1A (F1444S +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy | |
| | LOC102724058, SCN1A (Y1431* +5 more) | Single nucleotide variant (nonsense +1 more) | Severe myoclonic epilepsy in infancy +1 more | |
| | | Single nucleotide variant (splice donor variant) | Severe myoclonic epilepsy in infancy | |
| | LOC102724058, SCN1A (H1364P +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy | |
| | LOC102724058, SCN1A (S1335P +5 more) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice acceptor variant) | Severe myoclonic epilepsy in infancy | |
| | LOC102724058, SCN1A (W1175fs +5 more) | Deletion (frameshift variant +1 more) | Epileptic encephalopathy | |
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