Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796053162
rs796053162
0.700 GeneticVariation CLINVAR Brain and heart sodium channel subtype mRNA expression in rat cerebral cortex. 1658783

1991

dbSNP: rs796053162
rs796053162
0.700 GeneticVariation CLINVAR Developmentally regulated alternative RNA splicing of rat brain sodium channel mRNAs. 1658739

1991

dbSNP: rs796053162
rs796053162
0.700 GeneticVariation CLINVAR Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain. 1325650

1992

dbSNP: rs796053162
rs796053162
0.700 GeneticVariation CLINVAR Evolution and diversity of mammalian sodium channel genes. 10198179

1999

dbSNP: rs796053162
rs796053162
0.700 GeneticVariation CLINVAR Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus. 11245985

2001

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

dbSNP: rs796053162
rs796053162
0.700 GeneticVariation CLINVAR Evolutionary convergence of alternative splicing in ion channels. 15101391

2004

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 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 De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies. 19786696

2009

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 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 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 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2014