C1843140[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 976279	NM_001040142.2(SCN2A):c.620T>C (p.Phe207Ser)	SCN2A (F207S)	Single nucleotide variant (missense variant +1 more)	Episodic ataxia, type 9 +1 more	GLikely pathogenic
Select item 12879	NM_001040142.2(SCN2A):c.668G>A (p.Arg223Gln)	SCN2A (R223Q)	Single nucleotide variant (missense variant +1 more)	Seizures, benign familial infantile, 3 +1 more	GPathogenic/Likely pathogenic
Select item 207086	NM_001040142.2(SCN2A):c.1526A>G (p.Lys509Arg)	SCN2A (K509R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +2 more	GUncertain significance
Select item 976126	NM_001040142.2(SCN2A):c.1612C>T (p.Arg538Cys)	SCN2A (R538C)	Single nucleotide variant (missense variant)	See cases +3 more	GUncertain significance
Select item 331728	NM_001040142.2(SCN2A):c.2046G>T (p.Lys682Asn)	SCN2A (K682N)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +2 more	GConflicting classifications of pathogenicity
Select item 1707519	NM_001040142.2(SCN2A):c.2197G>A (p.Ala733Thr)	SCN2A (A733T)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +1 more	GConflicting classifications of pathogenicity
Select item 976288	NM_001040142.2(SCN2A):c.2636G>T (p.Gly879Val)	SCN2A (G879V)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3	GUncertain significance
Select item 976355	NM_001040142.2(SCN2A):c.3913dup (p.Leu1305fs)	SCN2A (L1305fs)	Duplication (frameshift variant)	Seizures, benign familial infantile, 3	GPathogenic
Select item 12880	NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)	SCN2A (R1319Q)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +2 more	GPathogenic
Select item 3024537	NM_001040142.2(SCN2A):c.4579T>G (p.Phe1527Val)	SCN2A (F1527V)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3	GUncertain significance
Select item 1709931	NM_001040142.2(SCN2A):c.4713T>G (p.Ile1571Met)	SCN2A (I1571M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance