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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC102724058, SCN1A
(W1697* +5 more)
Single nucleotide variant
(nonsense +1 more)
Severe myoclonic epilepsy in infancy
+1 more
GPathogenic/Likely pathogenic
LOC102724058, SCN1A
(T1629* +5 more)
Indel
(nonsense +1 more)
Severe myoclonic epilepsy in infancy
GLikely pathogenic
LOC102724058, SCN1A
(E1597Q +5 more)
Single nucleotide variant
(missense variant +1 more)
Severe myoclonic epilepsy in infancy
GUncertain significance
LOC102724058, SCN1A
Single nucleotide variant
(splice acceptor variant)
not provided
+2 more
GPathogenic
LOC102724058, SCN1A
(R1585H +5 more)
Single nucleotide variant
(missense variant +1 more)
Severe myoclonic epilepsy in infancy
+2 more
GConflicting classifications of pathogenicity
LOC102724058, SCN1A
Single nucleotide variant
(intron variant)
Severe myoclonic epilepsy in infancy
+1 more
GPathogenic/Likely pathogenic
LOC102724058, SCN1A
Single nucleotide variant
(splice donor variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GPathogenic
LOC102724058, SCN1A
(I1469T +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GLikely pathogenic
LOC102724058, SCN1A
(N1458S +5 more)
Single nucleotide variant
(missense variant +1 more)
Severe myoclonic epilepsy in infancy
GUncertain significance
LOC102724058, SCN1A
(R1234Q +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
+2 more
GPathogenic/Likely pathogenic
SCN1A
(H125fs +5 more)
Deletion
(frameshift variant +1 more)
Severe myoclonic epilepsy in infancy
GLikely pathogenic
SCN1A
Single nucleotide variant
(intron variant)
not provided
+5 more
GPathogenic
SCN1A
(W727* +4 more)
Single nucleotide variant
(nonsense +2 more)
Severe myoclonic epilepsy in infancy
+1 more
GPathogenic
SCN1A
(R542* +1 more)
Single nucleotide variant
(nonsense +2 more)
not provided
+4 more
GPathogenic
SCN1A
Single nucleotide variant
(intron variant)
Migraine, familial hemiplegic, 3
+3 more
GPathogenic/Likely pathogenic
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