"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SCN2A"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 207035	NM_001040142.2(SCN2A):c.106A>G (p.Arg36Gly)	SCN2A (R36G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 586495	NM_001040142.2(SCN2A):c.1385C>T (p.Ala462Val)	SCN2A (A462V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +2 more	GUncertain significance
Select item 207062	NM_001040142.2(SCN2A):c.1712G>A (p.Arg571His)	SCN2A (R571H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 984895	NM_001040142.2(SCN2A):c.1819C>T (p.Arg607Ter)	SCN2A (R607*)	Single nucleotide variant (nonsense)	Episodic ataxia, type 9 +4 more	GPathogenic
Select item 130218	NM_001040142.2(SCN2A):c.1842G>T (p.Pro614=)	SCN2A	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 207092	NM_001040142.2(SCN2A):c.1861C>T (p.Arg621Cys)	SCN2A (R621C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 207066	NM_001040142.2(SCN2A):c.1901T>C (p.Val634Ala)	SCN2A (V634A)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +2 more	GUncertain significance
Select item 194555	NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln)	SCN2A (R853Q)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GPathogenic FDA Recognized database
Select item 206975	NM_001040142.2(SCN2A):c.2696G>A (p.Gly899Asp)	SCN2A (G899D)	Single nucleotide variant (missense variant)	not provided +3 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	GBenign FDA Recognized database
Select item 207080	NM_001040142.2(SCN2A):c.2809C>T (p.Arg937Cys)	SCN2A (R937C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 464905	NM_001040142.2(SCN2A):c.3049G>C (p.Val1017Leu)	SCN2A (V1017L)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +3 more	GUncertain significance
Select item 206982	NM_001040142.2(SCN2A):c.3190G>T (p.Asp1064Tyr)	SCN2A (D1064Y)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1054863	NM_001040142.2(SCN2A):c.3413C>G (p.Thr1138Ser)	SCN2A (T1138S)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +2 more	GUncertain significance
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 570358	NM_001040142.2(SCN2A):c.4246C>T (p.Leu1416Phe)	SCN2A (L1416F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 139018	NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3 +5 more	GBenign/Likely benign
Select item 1047612	NM_001040142.2(SCN2A):c.5278A>G (p.Ile1760Val)	SCN2A (I1760V)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +2 more	GUncertain significance
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 130226	NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3 +5 more	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 20