SCN1A[gene] AND Arg612*[varname] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1697000	NM_001165963.4(SCN1A):c.1838G>A (p.Arg613Gln)	SCN1A (R612Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 93635	NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter)	SCN1A (R613* +1 more)	Single nucleotide variant (nonsense +2 more)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GPathogenic
Select item 1453362	NM_001165963.4(SCN1A):c.1834dup (p.Arg612fs)	SCN1A (R611fs +1 more)	Duplication (frameshift variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 408923	NM_001165963.4(SCN1A):c.1835G>A (p.Arg612Gln)	SCN1A (R612Q +1 more)	Single nucleotide variant (missense variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2760893	NM_001165963.4(SCN1A):c.1834del (p.Arg612fs)	SCN1A (R612fs +1 more)	Deletion (frameshift variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 189941	NM_001165963.4(SCN1A):c.1834C>T (p.Arg612Ter)	SCN1A (R612* +1 more)	Single nucleotide variant (nonsense +2 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic

ClinVar