C0037769[trait identifier] AND "Neurology Department, Shenzhen Childre - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 372557	NM_001040142.2(SCN2A):c.640T>C (p.Ser214Pro)	SCN2A (S214P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1342695	NM_001040142.2(SCN2A):c.707C>G (p.Thr236Ser)	SCN2A (T236S)	Single nucleotide variant (missense variant)	West syndrome +1 more	GPathogenic
Select item 1342684	NM_001040142.2(SCN2A):c.807G>T (p.Leu269Phe)	SCN2A (L269F)	Single nucleotide variant (missense variant)	West syndrome	GPathogenic
Select item 1342670	NM_001040142.2(SCN2A):c.1261T>G (p.Leu421Val)	SCN2A (L421V)	Single nucleotide variant (missense variant)	West syndrome +1 more	GPathogenic
Select item 1342694	NM_001040142.2(SCN2A):c.1288G>A (p.Glu430Lys)	SCN2A (E430K)	Single nucleotide variant (missense variant)	West syndrome +1 more	GPathogenic
Select item 194555	NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln)	SCN2A (R853Q)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GPathogenic FDA Recognized database
Select item 206981	NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys)	SCN2A (E999K)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 29886	NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys)	SCN2A (E1211K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +2 more	GPathogenic/Likely pathogenic
Select item 1342679	NM_001040142.2(SCN2A):c.4015A>G (p.Asn1339Asp)	SCN2A (N1339D)	Single nucleotide variant (missense variant)	West syndrome +1 more	GPathogenic
Select item 206996	NM_001040142.2(SCN2A):c.4025T>C (p.Leu1342Pro)	SCN2A (L1342P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 206997	NM_001040142.2(SCN2A):c.4036A>G (p.Ile1346Val)	SCN2A (I1346V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1342671	NM_001040142.2(SCN2A):c.4364T>A (p.Ile1455Asn)	SCN2A (I1455N)	Single nucleotide variant (missense variant)	West syndrome	GPathogenic
Select item 1342674	NM_001040142.2(SCN2A):c.4498G>A (p.Ala1500Thr)	SCN2A (A1500T)	Single nucleotide variant (missense variant)	West syndrome +1 more	GPathogenic
Select item 1342683	NM_001040142.2(SCN2A):c.4523A>T (p.Lys1508Ile)	SCN2A (K1508I)	Single nucleotide variant (missense variant)	West syndrome +1 more	GPathogenic
Select item 1342682	NM_001040142.2(SCN2A):c.4712T>C (p.Ile1571Thr)	SCN2A (I1571T)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +1 more	GPathogenic
Select item 1342685	NM_001040142.2(SCN2A):c.4948C>A (p.Leu1650Ile)	SCN2A (L1650I)	Single nucleotide variant (missense variant)	West syndrome +1 more	GPathogenic
Select item 1342673	NM_001040142.2(SCN2A):c.5144G>T (p.Gly1715Val)	SCN2A (G1715V)	Single nucleotide variant (missense variant)	West syndrome	GPathogenic
Select item 1342675	NM_001040142.2(SCN2A):c.5198del (p.Pro1733fs)	SCN2A (P1733fs)	Deletion (frameshift variant)	West syndrome	GPathogenic
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 1342680	NM_001040142.2(SCN2A):c.5558A>G (p.His1853Arg)	SCN2A (H1853R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 1342689	NM_001040142.2(SCN2A):c.5640A>C (p.Glu1880Asp)	SCN2A (E1880D)	Single nucleotide variant (missense variant)	West syndrome	GPathogenic
Select item 196039	NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln)	SCN2A (R1882Q)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +4 more	GPathogenic/Likely pathogenic

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Items: 22