"Eurofins Ntd Llc (ga)"[submitter] AND "SCN2A"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 139022	NM_001040142.2(SCN2A):c.24G>A (p.Pro8=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3 +4 more	GConflicting classifications of pathogenicity
Select item 207034	NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr)	SCN2A (A34T)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 130221	NM_001040142.2(SCN2A):c.387-10G>A	SCN2A	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 207094	NM_001040142.2(SCN2A):c.913ACT[3] (p.Thr306dup)	SCN2A	Microsatellite (inframe_insertion)	not provided +4 more	GUncertain significance
Select item 193734	NM_001040142.2(SCN2A):c.1178C>A (p.Thr393Lys)	SCN2A (T393K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 130213	NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala)	SCN2A (E459A)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 284024	NM_001040142.2(SCN2A):c.2016+10A>G	SCN2A	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 139031	NM_001040142.2(SCN2A):c.2019C>G (p.Gly673=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3 +3 more	GConflicting classifications of pathogenicity
Select item 139032	NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3 +4 more	GBenign/Likely benign
Select item 194555	NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln)	SCN2A (R853Q)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GPathogenicFDA Recognized database
Select item 593306	NM_001040142.2(SCN2A):c.2631T>C (p.Ser877=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3 +2 more	GConflicting classifications of pathogenicity
Select item 212126	NM_001040142.2(SCN2A):c.2673C>T (p.Ile891=)	SCN2A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 285909	NM_001040142.2(SCN2A):c.2713A>G (p.Lys905Glu)	SCN2A (K905E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 130219	NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg)	SCN2A (K908R)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GBenignFDA Recognized database
Select item 286059	NM_001040142.2(SCN2A):c.3210C>T (p.Asp1070=)	SCN2A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 139011	NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=)	SCN2A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 11 +4 more	GBenign/Likely benign
Select item 206953	NM_001040142.2(SCN2A):c.3456C>T (p.Ala1152=)	SCN2A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 206987	NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys)	SCN2A (E1153K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +4 more	GConflicting classifications of pathogenicity
Select item 289283	NM_001040142.2(SCN2A):c.3547C>G (p.Gln1183Glu)	SCN2A (Q1183E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 139012	NM_001040142.2(SCN2A):c.3579C>A (p.Leu1193=)	SCN2A	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 596677	NM_001040142.2(SCN2A):c.3788C>T (p.Ala1263Val)	SCN2A (A1263V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195695	NM_001040142.2(SCN2A):c.4156T>G (p.Cys1386Gly)	SCN2A (C1386G)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +2 more	GConflicting classifications of pathogenicity
Select item 139016	NM_001040142.2(SCN2A):c.4257C>T (p.Ala1419=)	SCN2A	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 593354	NM_001040142.2(SCN2A):c.4483A>G (p.Lys1495Glu)	SCN2A (K1495E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 130214	NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala)	SCN2A (G1522A)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +4 more	GConflicting classifications of pathogenicity
Select item 289836	NM_001040142.2(SCN2A):c.5004C>T (p.Phe1668=)	SCN2A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 379732	NM_001040142.2(SCN2A):c.5121G>A (p.Leu1707=)	SCN2A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 139018	NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=)	SCN2A	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 139019	NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3 +4 more	GBenign/Likely benign
Select item 598372	NM_001040142.2(SCN2A):c.5427G>A (p.Ala1809=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3 +2 more	GConflicting classifications of pathogenicity
Select item 196038	NM_001040142.2(SCN2A):c.5505C>T (p.Asn1835=)	SCN2A	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 378890	NM_001040142.2(SCN2A):c.5574A>G (p.Leu1858=)	SCN2A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 196039	NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln)	SCN2A (R1882Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +4 more	GPathogenic/Likely pathogenic
Select item 282579	NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys)	SCN2A (R1918C)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 598156	NM_001040142.2(SCN2A):c.5773G>A (p.Val1925Ile)	SCN2A (V1925I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 596676	NM_001040142.2(SCN2A):c.5873C>A (p.Ser1958Ter)	SCN2A (S1958*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

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Items: 36