C1843140[trait identifier] AND "Department of Neurology, Children’s Ho - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1708030	NM_001040142.2(SCN2A):c.269C>T (p.Thr90Met)	SCN2A (T90M)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
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 29888	NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val)	SCN2A (A263V)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 130213	NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala)	SCN2A (E459A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 432034	NM_001040142.2(SCN2A):c.2810G>A (p.Arg937His)	SCN2A (R937H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +2 more	GPathogenic/Likely pathogenic
Select item 206981	NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys)	SCN2A (E999K)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +2 more	GPathogenic/Likely pathogenic
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 533495	NM_001040142.2(SCN2A):c.4502T>C (p.Met1501Thr)	SCN2A (M1501T)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
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