"GenomeConnect, ClinGen"[submitter] AND "SCN2A"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1339847	NM_001040142.2(SCN2A):c.1511_1512del (p.Arg504fs)	SCN2A (R504fs)	Deletion (frameshift variant)	SCN2A-related disorder	Gnot provided
Select item 1783902	NM_001040142.2(SCN2A):c.1988T>A (p.Leu663His)	SCN2A (L663H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1203296	NM_001040142.2(SCN2A):c.2960G>A (p.Ser987Asn)	SCN2A (S987N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 130214	NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala)	SCN2A (G1522A)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +4 more	GConflicting classifications of pathogenicity
Select item 489345	NM_001040142.2(SCN2A):c.4591C>T (p.Gln1531Ter)	SCN2A (Q1531*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 545912	NM_001040142.2(SCN2A):c.4727del (p.Gly1576fs)	SCN2A (G1576fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 548699	NM_001040142.2(SCN2A):c.4801G>T (p.Val1601Leu)	SCN2A (V1601L)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GLikely pathogenic
Select item 282579	NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys)	SCN2A (R1918C)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity

ClinVar