C1843140[trait identifier] AND "Génétique des Maladies du Développemen - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 449147	NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)	SCN2A (A202V)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +3 more	GConflicting classifications of pathogenicity
Select item 619986	NM_001040142.2(SCN2A):c.605+1G>A	SCN2A	Single nucleotide variant (splice donor variant)	Seizures, benign familial infantile, 3 +2 more	GPathogenic
Select item 373283	NM_001040142.2(SCN2A):c.1199C>G (p.Thr400Arg)	SCN2A (T400R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 620037	NM_001040142.2(SCN2A):c.1600A>T (p.Arg534Ter)	SCN2A (R534*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 11 +1 more	GPathogenic
Select item 813286	NM_001040142.2(SCN2A):c.3780G>C (p.Lys1260Asn)	SCN2A (K1260N)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
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 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
Select item 410984	NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val)	SCN2A (A1659V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +2 more	GPathogenic/Likely pathogenic
Select item 813788	NM_001040142.2(SCN2A):c.5131A>G (p.Thr1711Ala)	SCN2A (T1711A)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3	GLikely pathogenic
Select item 1098837	NM_001040142.2(SCN2A):c.5183C>T (p.Pro1728Leu)	SCN2A (P1728L)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3	GLikely benign
Select item 620045	NM_001040142.2(SCN2A):c.5231G>A (p.Gly1744Glu)	SCN2A (G1744E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GLikely pathogenic
Select item 620041	NM_001040142.2(SCN2A):c.5306A>G (p.Asn1769Ser)	SCN2A (N1769S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GLikely pathogenic
Select item 207024	NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr)	SCN2A (A1773T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 619993	NM_001040142.2(SCN2A):c.5597T>C (p.Leu1866Ser)	SCN2A (L1866S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 207028	NM_001040142.2(SCN2A):c.5644C>G (p.Arg1882Gly)	SCN2A (R1882G)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic