C3150987[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 975858	NM_001040142.2(SCN2A):c.452del (p.Pro151fs)	SCN2A (P151fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 11 +1 more	GPathogenic
Select item 982644	NM_001040142.2(SCN2A):c.451C>T (p.Pro151Ser)	SCN2A (P151S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 976027	NM_001040142.2(SCN2A):c.628C>G (p.Leu210Val)	SCN2A (L210V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 1712338	NM_001040142.2(SCN2A):c.710T>C (p.Ile237Thr)	SCN2A (I237T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 985424	NM_001040142.2(SCN2A):c.802C>T (p.Gln268Ter)	SCN2A (Q268*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 982803	NM_001040142.2(SCN2A):c.818A>G (p.Asn273Ser)	SCN2A (N273S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 982643	NM_001040142.2(SCN2A):c.1403C>A (p.Ser468Tyr)	SCN2A (S468Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GUncertain significance
Select item 1679138	NM_001040142.2(SCN2A):c.1450del (p.Ser484fs)	SCN2A (S484fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 11	GPathogenic
Select item 207086	NM_001040142.2(SCN2A):c.1526A>G (p.Lys509Arg)	SCN2A (K509R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 808845	NM_001040142.2(SCN2A):c.1682G>A (p.Ser561Asn)	SCN2A (S561N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 976297	NM_001040142.2(SCN2A):c.1728C>A (p.Ser576Arg)	SCN2A (S576R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	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 2692367	NM_001040142.2(SCN2A):c.2715G>T (p.Lys905Asn)	SCN2A (K905N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 982645	NM_001040142.2(SCN2A):c.3736dup (p.Asp1246fs)	SCN2A (D1246fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 11	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 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 2430272	NM_001040142.2(SCN2A):c.4192T>A (p.Trp1398Arg)	SCN2A (W1398R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 975861	NM_001040142.2(SCN2A):c.4252G>A (p.Val1418Ile)	SCN2A (V1418I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GUncertain significance
Select item 976140	NM_001040142.2(SCN2A):c.4466T>G (p.Phe1489Cys)	SCN2A (F1489C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 2576561	NM_001040142.2(SCN2A):c.4596del (p.Phe1533fs)	SCN2A (F1533fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 995991	NM_001040142.2(SCN2A):c.4606A>G (p.Ser1536Gly)	SCN2A (S1536G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	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

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Items: 25