C3150987[trait identifier] AND "MGZ Medical Genetics Center"[submitter - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1709970	NM_001040142.2(SCN2A):c.16C>A (p.Leu6Met)	SCN2A (L6M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GUncertain significance
Select item 1709771	NM_001040142.2(SCN2A):c.2156A>G (p.Glu719Gly)	SCN2A (E719G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GUncertain significance
Select item 1367312	NM_001040142.2(SCN2A):c.3356C>T (p.Thr1119Ile)	SCN2A (T1119I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 206988	NM_001040142.2(SCN2A):c.3485A>T (p.Glu1162Val)	SCN2A (E1162V)	Single nucleotide variant (missense variant)	Episodic ataxia, type 9 +3 more	GConflicting classifications of pathogenicity
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 1709190	NM_001040142.2(SCN2A):c.4551+5G>A	SCN2A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
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
Select item 1478168	NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr)	SCN2A (M1879T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity