C1858673[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 206882	NM_001165963.4(SCN1A):c.5806A>G (p.Lys1936Glu)	LOC102724058, SCN1A (K1925E +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +1 more	GConflicting classifications of pathogenicity
Select item 998292	NM_001165963.4(SCN1A):c.5425T>C (p.Tyr1809His)	LOC102724058, SCN1A (Y1780H +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GUncertain significance
Select item 427075	NM_001165963.4(SCN1A):c.5383G>C (p.Glu1795Gln)	LOC102724058, SCN1A (E1784Q +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 206837	NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter)	LOC102724058, SCN1A (S1505* +5 more)	Single nucleotide variant (nonsense +1 more)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GPathogenic
Select item 425224	NM_001165963.4(SCN1A):c.4529C>T (p.Ala1510Val)	LOC102724058, SCN1A (A1499V +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 1027788	NM_001165963.4(SCN1A):c.4339-16T>G	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 2	GUncertain significance
Select item 689733	NM_001165963.4(SCN1A):c.4133A>T (p.Asn1378Ile)	LOC102724058, SCN1A (N1350I +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +2 more	GLikely pathogenic
Select item 530487	NM_001165963.4(SCN1A):c.4036T>C (p.Ser1346Pro)	LOC102724058, SCN1A (S1335P +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 813803	NM_001165963.4(SCN1A):c.2879T>C (p.Met960Thr)	SCN1A (M146T +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GPathogenic
Select item 1474345	NM_001165963.4(SCN1A):c.2516T>C (p.Ile839Thr)	SCN1A (I828T +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 1031898	NM_001165963.4(SCN1A):c.2201G>A (p.Cys734Tyr)	SCN1A (C723Y +4 more)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy +3 more	GUncertain significance
Select item 374331	NM_001165963.4(SCN1A):c.1709G>A (p.Ser570Asn)	SCN1A (S570N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3237458	NM_001165963.4(SCN1A):c.1549G>A (p.Glu517Lys)	SCN1A (E516K +1 more)	Single nucleotide variant (missense variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GUncertain significance
Select item 418475	NM_001165963.4(SCN1A):c.1498C>T (p.Arg500Trp)	SCN1A (R500W +1 more)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GConflicting classifications of pathogenicity
Select item 2582435	NM_001165963.4(SCN1A):c.1377+3A>G	SCN1A	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 2	GUncertain significance