C3150987[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028208	NM_001040142.2(SCN2A):c.367A>C (p.Ile123Leu)	SCN2A (I123L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GUncertain significance
Select item 449147	NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)	SCN2A (A202V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 375510	NM_001040142.2(SCN2A):c.751G>A (p.Val251Ile)	SCN2A (V251I)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 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 206981	NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys)	SCN2A (E999K)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 206987	NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys)	SCN2A (E1153K)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 533505	NM_001040142.2(SCN2A):c.4255-3C>T	SCN2A	Single nucleotide variant (intron variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 3238770	NM_001040142.2(SCN2A):c.4481A>G (p.Gln1494Arg)	SCN2A (Q1494R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 2109395	NM_001040142.2(SCN2A):c.4535C>G (p.Pro1512Arg)	SCN2A (P1512R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 207017	NM_001040142.2(SCN2A):c.4877G>A (p.Arg1626Gln)	SCN2A (R1626Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1013422	NM_001040142.2(SCN2A):c.5047G>T (p.Ala1683Ser)	SCN2A (A1683S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 207028	NM_001040142.2(SCN2A):c.5644C>G (p.Arg1882Gly)	SCN2A (R1882G)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +2 more	GPathogenic
Select item 196039	NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln)	SCN2A (R1882Q)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +4 more	GPathogenic/Likely pathogenic
Select item 590198	NM_001040142.2(SCN2A):c.5753G>A (p.Arg1918His)	SCN2A (R1918H)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +4 more	GConflicting classifications of pathogenicity