C0751122[trait identifier] AND "Neurogenetics Laboratory - MEYER, AOU - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 68558	NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln)	LOC102724058, SCN1A (R1634Q +5 more)	Single nucleotide variant (missense variant +1 more)	Migraine, familial hemiplegic, 3 +5 more	GPathogenic
Select item 375515	NM_001165963.4(SCN1A):c.4814A>T (p.Asn1605Ile)	LOC102724058, SCN1A (N1594I +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 375516	NM_001165963.4(SCN1A):c.3690dup (p.Ser1231Ter)	LOC102724058, SCN1A (S1203* +5 more)	Duplication (nonsense +1 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 375512	NM_001165963.4(SCN1A):c.682T>C (p.Ser228Pro)	SCN1A (S228P)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 375513	NM_001165963.4(SCN1A):c.603-2A>G	SCN1A	Single nucleotide variant (splice acceptor variant)	Severe myoclonic epilepsy in infancy +1 more	GPathogenic
Select item 68668	NM_001165963.4(SCN1A):c.568T>C (p.Trp190Arg)	SCN1A (W190R)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic

ClinVar