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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC102724058, SCN1A
(P1041H +5 more)
Single nucleotide variant
(missense variant +1 more)
Severe myoclonic epilepsy in infancy
GPathogenic
LOC102724058, SCN1A
(R1634* +5 more)
Single nucleotide variant
(nonsense +1 more)
Migraine, familial hemiplegic, 3
+4 more
GPathogenic
LOC102724058, SCN1A
(R1318* +5 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+4 more
GPathogenic
SCN1A
(R854* +5 more)
Single nucleotide variant
(nonsense +1 more)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GPathogenic
SCN1A
(T27M +5 more)
Single nucleotide variant
(missense variant +1 more)
Severe myoclonic epilepsy in infancy
+2 more
GConflicting classifications of pathogenicity
SCN1A
(R568* +1 more)
Single nucleotide variant
(nonsense +2 more)
Migraine, familial hemiplegic, 3
+6 more
GPathogenic
SCN1A
(R542Q +1 more)
Single nucleotide variant
(missense variant +2 more)
Severe myoclonic epilepsy in infancy
+5 more
GConflicting classifications of pathogenicity
SCN1A
(A354P)
Single nucleotide variant
(missense variant +2 more)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
SCN1A
Single nucleotide variant
(splice acceptor variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GPathogenic
SCN1A
(F144fs)
Microsatellite
(frameshift variant +2 more)
Early infantile epileptic encephalopathy with suppression bursts
GPathogenic
SCN1A, SCN7A
+1 more
Copy number loss
Severe myoclonic epilepsy in infancy
GPathogenic
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