| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC102724058, SCN1A (V1773D +5 more) | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (missense variant +2 more) | Severe myoclonic epilepsy in infancy +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Developmental and epileptic encephalopathy 6B +6 more | |
| | | Single nucleotide variant (splice donor variant) | Developmental and epileptic encephalopathy, 76 +7 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
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