C1864987[trait identifier] AND "UniProtKB/Swiss-Prot"[submitter] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 68671	NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly)	LOC102724058, SCN1A (E1946G +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 68574	NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly)	LOC102724058, SCN1A (R1917G +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +7 more	GBenign/Likely benign
Select item 68660	NM_001165963.4(SCN1A):c.5383G>A (p.Glu1795Lys)	LOC102724058, SCN1A (E1784K +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +4 more	GConflicting classifications of pathogenicity
Select item 68570	NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr)	LOC102724058, SCN1A (A1772T +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +5 more	GPathogenic
Select item 68558	NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln)	LOC102724058, SCN1A (R1634Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GPathogenic
Select item 68557	NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln)	LOC102724058, SCN1A (R1625Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 68551	NM_001165963.4(SCN1A):c.4633A>G (p.Ile1545Val)	LOC102724058, SCN1A (I1534V +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +3 more	GPathogenic
Select item 12902	NM_001165963.4(SCN1A):c.4495T>C (p.Phe1499Leu)	LOC102724058, SCN1A (F1499L +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 12903	NM_001165963.4(SCN1A):c.4467G>C (p.Gln1489His)	LOC102724058, SCN1A (Q1489H +5 more)	Single nucleotide variant (missense variant +1 more)	Migraine, familial hemiplegic, 3	GPathogenic
Select item 12893	NM_001165963.4(SCN1A):c.4465C>A (p.Gln1489Lys)	LOC102724058, SCN1A (Q1489K +5 more)	Single nucleotide variant (missense variant +1 more)	Migraine, familial hemiplegic, 3	GPathogenic
Select item 68534	NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)	LOC102724058, SCN1A (E1297D +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 68616	NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)	LOC102724058, SCN1A (T1163S +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Severe myoclonic epilepsy in infancy +11 more	GConflicting classifications of pathogenicity
Select item 68589	NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His)	SCN1A (R604H +1 more)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy +8 more	GBenign/Likely benign
Select item 68506	NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His)	SCN1A (R393H)	Single nucleotide variant (missense variant +2 more)	Migraine, familial hemiplegic, 3 +3 more	GPathogenic/Likely pathogenic
Select item 68505	NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys)	SCN1A (R393C)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy +7 more	GPathogenic
Select item 68675	NM_001165963.4(SCN1A):c.890C>T (p.Thr297Ile)	SCN1A (T297I)	Single nucleotide variant (missense variant +2 more)	Migraine, familial hemiplegic, 3 +3 more	GConflicting classifications of pathogenicity
Select item 68578	NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)	SCN1A (T226M)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy 6B +6 more	GPathogenic
Select item 12896	NM_001165963.4(SCN1A):c.434T>C (p.Met145Thr)	SCN1A (M145T)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy +4 more	GPathogenic
Select item 68528	NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln)	SCN1A (R101Q)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GPathogenic
Select item 68527	NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp)	SCN1A (R101W)	Single nucleotide variant (missense variant +2 more)	Migraine, familial hemiplegic, 3 +3 more	GPathogenic/Likely pathogenic
Select item 68520	NM_001165963.4(SCN1A):c.251A>G (p.Tyr84Cys)	SCN1A (Y84C)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GPathogenic/Likely pathogenic

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Items: 21