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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC102724058, SCN1A
(S1767R +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
LOC102724058, SCN1A
(R1634* +5 more)
Single nucleotide variant
(nonsense +1 more)
Migraine, familial hemiplegic, 3
+4 more
GPathogenic
LOC102724058, SCN1A
(S1415Y +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
LOC102724058, SCN1A
(R1318* +5 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+4 more
GPathogenic
LOC102724058, SCN1A
(Y1242* +5 more)
Single nucleotide variant
(nonsense +1 more)
Early infantile epileptic encephalopathy with suppression bursts
GPathogenic
LOC102724058, SCN1A
(E1187Q +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
SCN1A
(D1006fs +5 more)
Deletion
(frameshift variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
SCN1A
Single nucleotide variant
(splice donor variant)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
SCN1A
(R568* +1 more)
Single nucleotide variant
(nonsense +2 more)
not provided
+6 more
GPathogenic
SCN1A
(E525fs +1 more)
Deletion
(frameshift variant +2 more)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
SCN1A
(R377H)
Indel
(missense variant +2 more)
Generalized epilepsy with febrile seizures plus, type 2
GLikely pathogenic
SCN1A
(G355D)
Single nucleotide variant
(missense variant +2 more)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
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