| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC102724058, SCN1A (K1032fs +5 more) | Microsatellite (frameshift variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts +6 more | |
| | LOC102724058, SCN1A (L1394R +5 more) | Single nucleotide variant (missense variant +1 more) | SCN1A Seizure Disorders | |
| | | Deletion (frameshift variant +2 more) | SCN1A Seizure Disorders | |
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