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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC102724058, SCN1A
(Y1424D +5 more)
Single nucleotide variant
(missense variant +1 more)
Sudden unexplained death in childhood
GLikely pathogenic
LOC102724058, SCN1A
(L1296M +5 more)
Single nucleotide variant
(missense variant +1 more)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GConflicting classifications of pathogenicity
SCN1A
(G653V +4 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
SCN1A
(L61P)
Single nucleotide variant
(missense variant +2 more)
Sudden unexplained death in childhood
GLikely pathogenic
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