C5543353[trait identifier] AND "Center for Genomics, Ann and Robert H. - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500082	NM_001165963.4(SCN1A):c.5263G>A (p.Asp1755Asn)	LOC102724058, SCN1A (D1726N +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +3 more	GUncertain significance
Select item 461281	NM_001165963.4(SCN1A):c.5217C>T (p.Pro1739=)	LOC102724058, SCN1A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 189938	NM_001165963.4(SCN1A):c.2589+3A>T	SCN1A	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy +5 more	GPathogenic
Select item 530625	NM_001165963.4(SCN1A):c.1803C>T (p.Asn601=)	SCN1A	Single nucleotide variant (synonymous variant +2 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 265254	NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter)	SCN1A (R568* +1 more)	Single nucleotide variant (nonsense +2 more)	Migraine, familial hemiplegic, 3 +6 more	GPathogenic
Select item 626009	NM_001165963.4(SCN1A):c.1343T>C (p.Ile448Thr)	SCN1A (I448T)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts +5 more	GUncertain significance
Select item 197187	NM_001165963.4(SCN1A):c.602+1G>A	SCN1A	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 76 +7 more	GPathogenic

ClinVar