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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC102724058, SCN1A
(P1166R +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
+2 more
GConflicting classifications of pathogenicity
SCN1A
(M630V +1 more)
Single nucleotide variant
(missense variant +2 more)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GConflicting classifications of pathogenicity
SCN1A
(Q242R)
Single nucleotide variant
(missense variant +2 more)
Generalized epilepsy with febrile seizures plus, type 2
GLikely pathogenic
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