| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC102724058, SCN1A (N1083K +5 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | LOC102724058, SCN1A (V1470I +5 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | 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 | |
Click to view in NCBI Gene