Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796053162
rs796053162
0.700 GeneticVariation CLINVAR Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures. 28256214

2018

dbSNP: rs796053162
rs796053162
0.700 GeneticVariation CLINVAR Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2017

dbSNP: rs796053162
rs796053162
0.700 GeneticVariation CLINVAR Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 28379373

2017

dbSNP: rs796053162
rs796053162
0.700 GeneticVariation CLINVAR Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia. 26645390

2016

dbSNP: rs796053162
rs796053162
0.700 GeneticVariation CLINVAR Genotype phenotype associations across the voltage-gated sodium channel family. 25163687

2015

dbSNP: rs796053162
rs796053162
0.700 GeneticVariation CLINVAR SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. 26291284

2015

dbSNP: rs796053162
rs796053162
0.700 GeneticVariation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2014

dbSNP: rs796053162
rs796053162
0.700 GeneticVariation CLINVAR Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187

2013

dbSNP: rs796053162
rs796053162
0.700 GeneticVariation CLINVAR Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. 23935176

2013

dbSNP: rs796053162
rs796053162
0.700 GeneticVariation CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776

2013

dbSNP: rs796053162
rs796053162
0.700 GeneticVariation CLINVAR Clinical application of exome sequencing in undiagnosed genetic conditions. 22581936

2013

dbSNP: rs796053162
rs796053162
0.700 GeneticVariation CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937

2012

dbSNP: rs796053162
rs796053162
0.700 GeneticVariation CLINVAR De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 22495306

2012

dbSNP: rs796053162
rs796053162
0.700 GeneticVariation CLINVAR Clinical spectrum of SCN2A mutations. 22029951

2012

dbSNP: rs796053162
rs796053162
0.700 GeneticVariation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978

2012

dbSNP: rs796053162
rs796053162
0.700 GeneticVariation CLINVAR Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. 20196795

2010

dbSNP: rs796053162
rs796053162
0.700 GeneticVariation CLINVAR Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects. 20351042

2010

dbSNP: rs796053162
rs796053162
0.700 GeneticVariation CLINVAR Differential expression of exon 5 splice variants of sodium channel alpha subunit mRNAs in the developing mouse brain. 20006674

2010

dbSNP: rs796053162
rs796053162
0.700 GeneticVariation CLINVAR Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay. 20346423

2010

dbSNP: rs796053162
rs796053162
0.700 GeneticVariation CLINVAR De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies. 19786696

2009

dbSNP: rs796053162
rs796053162
0.700 GeneticVariation CLINVAR Disulfide locking a sodium channel voltage sensor reveals ion pair formation during activation. 18809926

2008

dbSNP: rs796053162
rs796053162
0.700 GeneticVariation CLINVAR Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures. 18479388

2008

dbSNP: rs796053162
rs796053162
0.700 GeneticVariation CLINVAR SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum. 17386050

2007

dbSNP: rs796053162
rs796053162
0.700 GeneticVariation CLINVAR Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A. 15249644

2004

dbSNP: rs796053162
rs796053162
0.700 GeneticVariation CLINVAR Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. 15048894

2004