C0393706[trait identifier] AND "Neurology Department, Shenzhen Childre - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 933619	NM_001040142.2(SCN2A):c.466A>C (p.Lys156Gln)	SCN2A (K156Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 449147	NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)	SCN2A (A202V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 378927	NM_001040142.2(SCN2A):c.781G>A (p.Val261Met)	SCN2A (V261M)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +2 more	GPathogenic
Select item 1342669	NM_001040142.2(SCN2A):c.1108T>C (p.Phe370Leu)	SCN2A (F370L)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GUncertain significance FDA Recognized database
Select item 1342678	NM_001040142.2(SCN2A):c.1128_1130del (p.Leu377del)	SCN2A (L377del)	Deletion (inframe_deletion)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1342690	NM_001040142.2(SCN2A):c.1253A>T (p.Asn418Ile)	SCN2A (N418I)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	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 207053	NM_001040142.2(SCN2A):c.1271T>C (p.Val424Ala)	SCN2A (V424A)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 206972	NM_001040142.2(SCN2A):c.2657T>C (p.Leu886Ser)	SCN2A (L886S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 524019	NM_001040142.2(SCN2A):c.3579_3580del (p.Trp1194fs)	SCN2A (W1194fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic
Select item 1342688	NM_001040142.2(SCN2A):c.3936G>T (p.Arg1312Ser)	SCN2A (R1312S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 379254	NM_001040142.2(SCN2A):c.3956G>T (p.Arg1319Leu)	SCN2A (R1319L)	Single nucleotide variant (missense variant)	Episodic ataxia, type 9 +1 more	GPathogenic
Select item 12880	NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)	SCN2A (R1319Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +2 more	GPathogenic
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 206997	NM_001040142.2(SCN2A):c.4036A>G (p.Ile1346Val)	SCN2A (I1346V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 650423	NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala)	SCN2A (V1408A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GLikely pathogenic
Select item 419721	NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter)	SCN2A (R1435*)	Single nucleotide variant (nonsense)	Seizures, benign familial infantile, 3 +4 more	GPathogenic/Likely pathogenic
Select item 978724	NM_001040142.2(SCN2A):c.4391C>T (p.Thr1464Ile)	SCN2A (T1464I)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic/Likely pathogenic
Select item 1342677	NM_001040142.2(SCN2A):c.4399C>G (p.Leu1467Val)	SCN2A (L1467V)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1342672	NM_001040142.2(SCN2A):c.4454G>A (p.Gly1485Asp)	SCN2A (G1485D)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	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 207019	NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)	SCN2A (R1629H)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +3 more	GPathogenic/Likely pathogenic
Select item 1342676	NM_001040142.2(SCN2A):c.4933G>A (p.Gly1645Arg)	SCN2A (G1645R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	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 1342693	NM_001040142.2(SCN2A):c.4969C>T (p.Leu1657Phe)	SCN2A (L1657F)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 984818	NM_001040142.2(SCN2A):c.4972C>T (p.Pro1658Ser)	SCN2A (P1658S)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +1 more	GPathogenic
Select item 1342686	NM_001040142.2(SCN2A):c.5237G>A (p.Cys1746Tyr)	SCN2A (C1746Y)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 33