C1858673[trait identifier] AND "Laboratory of Medical Genetics, Nation - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 929425	NM_001165963.4(SCN1A):c.5388T>A (p.Ser1796Arg)	LOC102724058, SCN1A (S1767R +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 189921	NM_001165963.4(SCN1A):c.4933C>T (p.Arg1645Ter)	LOC102724058, SCN1A (R1634* +5 more)	Single nucleotide variant (nonsense +1 more)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GPathogenic
Select item 929415	NM_001165963.4(SCN1A):c.4331C>A (p.Ser1444Tyr)	LOC102724058, SCN1A (S1415Y +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 206816	NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter)	LOC102724058, SCN1A (R1318* +5 more)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 6 +4 more	GPathogenic
Select item 861530	NM_001165963.4(SCN1A):c.3762T>A (p.Tyr1254Ter)	LOC102724058, SCN1A (Y1242* +5 more)	Single nucleotide variant (nonsense +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1801478	NM_001165963.4(SCN1A):c.3646G>C (p.Glu1216Gln)	LOC102724058, SCN1A (E1187Q +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 929414	NM_001165963.4(SCN1A):c.3016del (p.Asp1006fs)	SCN1A (D1006fs +5 more)	Deletion (frameshift variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 1801480	NM_001165963.4(SCN1A):c.2176+2T>C	SCN1A	Single nucleotide variant (splice donor variant)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 265254	NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter)	SCN1A (R568* +1 more)	Single nucleotide variant (nonsense +2 more)	Early infantile epileptic encephalopathy with suppression bursts +6 more	GPathogenic
Select item 929417	NM_001165963.4(SCN1A):c.1575_1581del (p.Glu526fs)	SCN1A (E525fs +1 more)	Deletion (frameshift variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 1801477	NM_001165963.4(SCN1A):c.1130_1131delinsAC (p.Arg377His)	SCN1A (R377H)	Indel (missense variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 1801479	NM_001165963.4(SCN1A):c.1064G>A (p.Gly355Asp)	SCN1A (G355D)	Single nucleotide variant (missense variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic