"Genome-Nilou Lab"[submitter] AND "SCN2A"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1235530	NM_001040142.2(SCN2A):c.268-28A>G	SCN2A	Single nucleotide variant (intron variant)	Episodic ataxia, type 9 +4 more	GBenign
Select item 130216	NM_001040142.2(SCN2A):c.1035-3T>C	SCN2A	Single nucleotide variant (intron variant)	Seizures, benign familial infantile, 3 +5 more	GBenign
Select item 1290972	NM_001040142.2(SCN2A):c.1671+49A>G	SCN2A	Single nucleotide variant (intron variant)	Seizures, benign familial infantile, 3 +4 more	GBenign
Select item 261400	NM_001040142.2(SCN2A):c.1672-16C>T	SCN2A	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 670685	NM_001040142.2(SCN2A):c.4255-31A>G	SCN2A	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 130223	NM_001040142.2(SCN2A):c.4914T>A (p.Arg1638=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3 +5 more	GBenign

ClinVar