"3billion"[submitter] AND "SCN2A"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2572541	NM_001040142.2(SCN2A):c.477-2A>G	SCN2A	Single nucleotide variant (splice acceptor variant)	Episodic ataxia, type 9	GLikely pathogenic
Select item 2444039	NM_001040142.2(SCN2A):c.647T>C (p.Leu216Ser)	SCN2A (L216S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 1705326	NM_001040142.2(SCN2A):c.713T>C (p.Val238Ala)	SCN2A (V238A)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder +1 more	GConflicting classifications of pathogenicity
Select item 1320083	NM_001040142.2(SCN2A):c.971-1G>A	SCN2A	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 661206	NM_001040142.2(SCN2A):c.1270G>A (p.Val424Met)	SCN2A (V424M)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1333343	NM_001040142.2(SCN2A):c.1570C>T (p.Arg524Ter)	SCN2A (R524*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 11 +1 more	GPathogenic/Likely pathogenic
Select item 2444248	NM_001040142.2(SCN2A):c.2984A>C (p.Asp995Ala)	SCN2A (D995A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GUncertain significance
Select item 1333291	NM_001040142.2(SCN2A):c.4162G>A (p.Ala1388Thr)	SCN2A (A1388T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GUncertain significance
Select item 436661	NM_001040142.2(SCN2A):c.4435C>A (p.Gln1479Lys)	SCN2A (Q1479K)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +1 more	GConflicting classifications of pathogenicity
Select item 410984	NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val)	SCN2A (A1659V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +2 more	GPathogenic/Likely pathogenic
Select item 207024	NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr)	SCN2A (A1773T)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GPathogenic FDA Recognized database
Select item 1727245	NM_001040142.2(SCN2A):c.5408A>G (p.Glu1803Gly)	SCN2A (E1803G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 1478168	NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr)	SCN2A (M1879T)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GLikely pathogenic FDA Recognized database