C3150987[trait identifier] AND "Mendelics"[submitter] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1685435	NM_001040142.2(SCN2A):c.121C>T (p.Arg41Cys)	SCN2A (R41C)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +1 more	GConflicting classifications of pathogenicity
Select item 29888	NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val)	SCN2A (A263V)	Single nucleotide variant (missense variant)	SCN2A-related disorder +5 more	GPathogenic
Select item 206961	NM_001040142.2(SCN2A):c.982T>G (p.Phe328Val)	SCN2A (F328V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 207052	NM_001040142.2(SCN2A):c.1267G>C (p.Val423Leu)	SCN2A (V423L)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +2 more	GPathogenic/Likely pathogenic
Select item 436662	NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter)	SCN2A (R856*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 11 +2 more	GPathogenic/Likely pathogenic
Select item 689785	NM_001040142.2(SCN2A):c.2638G>A (p.Ala880Thr)	SCN2A (A880T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GPathogenic/Likely pathogenic
Select item 801778	NM_001040142.2(SCN2A):c.2659G>C (p.Val887Leu)	SCN2A (V887L)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +1 more	GPathogenic/Likely pathogenic
Select item 130219	NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg)	SCN2A (K908R)	Single nucleotide variant (missense variant)	Episodic ataxia, type 9 +5 more	GBenign/Likely benign
Select item 801780	NM_001040142.2(SCN2A):c.3461G>A (p.Gly1154Glu)	SCN2A (G1154E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 130214	NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala)	SCN2A (G1522A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 207019	NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)	SCN2A (R1629H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic