"Baylor Genetics"[submitter] AND "SCN1A"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 206885	NM_001165963.4(SCN1A):c.5912A>G (p.Glu1971Gly)	LOC102724058, SCN1A (E1960G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 374394	NM_001165963.4(SCN1A):c.5351T>C (p.Val1784Ala)	LOC102724058, SCN1A (V1773A +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 68636	NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys)	LOC102724058, SCN1A (R1564C +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 68550	NM_001165963.4(SCN1A):c.4628T>C (p.Phe1543Ser)	LOC102724058, SCN1A (F1532S +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
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 1027787	NM_001165963.4(SCN1A):c.4300T>A (p.Trp1434Arg)	LOC102724058, SCN1A (W1423R +5 more)	Single nucleotide variant (missense variant +1 more)	Migraine, familial hemiplegic, 3 +1 more	GConflicting classifications of pathogenicity
Select item 206820	NM_001165963.4(SCN1A):c.4162G>A (p.Glu1388Lys)	LOC102724058, SCN1A (E1377K +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 1027786	NM_001165963.4(SCN1A):c.3953T>C (p.Leu1318Pro)	LOC102724058, SCN1A (L1289P +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 561103	NM_001165963.4(SCN1A):c.3512C>T (p.Pro1171Leu)	LOC102724058, SCN1A (P1160L +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 1031899	NM_001165963.4(SCN1A):c.3451T>C (p.Ser1151Pro)	LOC102724058, SCN1A (S1140P +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
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 837128	NM_001165963.4(SCN1A):c.2792G>T (p.Arg931Leu)	SCN1A (R902L +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +1 more	GPathogenic/Likely pathogenic
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 1027785	NM_001165963.4(SCN1A):c.1662+1G>C	SCN1A	Single nucleotide variant (splice donor variant)	Severe myoclonic epilepsy in infancy +1 more	GPathogenic
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
Select item 282973	NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met)	SCN1A (V422M)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy +1 more	GPathogenic/Likely pathogenic
Select item 372865	NM_001165963.4(SCN1A):c.1261G>A (p.Val421Met)	SCN1A (V421M)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 280846	NM_001165963.4(SCN1A):c.1028+1del	SCN1A	Deletion (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1032678	NM_001165963.4(SCN1A):c.986G>C (p.Gly329Ala)	SCN1A (G329A)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy +2 more	GPathogenic/Likely pathogenic

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Items: 30