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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC102724058, SCN1A
(N1083K +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
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
GUncertain significance
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