Gene: SCN2A ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553583712
rs1553583712
SCN2A
T 0.700 CausalMutation CLINVAR Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures. 28256214

2017
dbSNP: rs1553583712
rs1553583712
SCN2A
T 0.700 CausalMutation CLINVAR Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 28379373

2017
dbSNP: rs796053162
rs796053162
SCN2A
A 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

2017
dbSNP: rs796053162
rs796053162
SCN2A
A 0.700 GeneticVariation CLINVAR Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 28379373

2017
dbSNP: rs1553583712
rs1553583712
SCN2A
T 0.700 CausalMutation CLINVAR Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia. 26645390

2016
dbSNP: rs1553583712
rs1553583712
SCN2A
T 0.700 CausalMutation CLINVAR Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
dbSNP: rs796053162
rs796053162
SCN2A
A 0.700 GeneticVariation CLINVAR Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia. 26645390

2016
dbSNP: rs796053162
rs796053162
SCN2A
A 0.700 GeneticVariation CLINVAR Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
dbSNP: rs1553583712
rs1553583712
SCN2A
T 0.700 CausalMutation CLINVAR SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. 26291284

2015
dbSNP: rs796053162
rs796053162
SCN2A
A 0.700 GeneticVariation CLINVAR SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. 26291284

2015
dbSNP: rs1553583712
rs1553583712
SCN2A
T 0.700 CausalMutation CLINVAR Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities. 24579881

2014
dbSNP: rs1553583712
rs1553583712
SCN2A
T 0.700 CausalMutation CLINVAR Genotype phenotype associations across the voltage-gated sodium channel family. 25163687

2014
dbSNP: rs796053162
rs796053162
SCN2A
A 0.700 GeneticVariation CLINVAR Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities. 24579881

2014
dbSNP: rs796053162
rs796053162
SCN2A
A 0.700 GeneticVariation CLINVAR Genotype phenotype associations across the voltage-gated sodium channel family. 25163687

2014
dbSNP: rs1553583712
rs1553583712
SCN2A
T 0.700 CausalMutation CLINVAR Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. 23935176

2013
dbSNP: rs1553583712
rs1553583712
SCN2A
T 0.700 CausalMutation CLINVAR Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187

2013
dbSNP: rs1553583712
rs1553583712
SCN2A
T 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs1553583712
rs1553583712
SCN2A
T 0.700 CausalMutation CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776

2013
dbSNP: rs1553583712
rs1553583712
SCN2A
T 0.700 CausalMutation CLINVAR SCN2A mutation is associated with infantile spasms and bitemporal glucose hypometabolism. 23827426

2013
dbSNP: rs796053162
rs796053162
SCN2A
A 0.700 GeneticVariation CLINVAR Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. 23935176

2013
dbSNP: rs796053162
rs796053162
SCN2A
A 0.700 GeneticVariation CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776

2013
dbSNP: rs796053162
rs796053162
SCN2A
A 0.700 GeneticVariation CLINVAR SCN2A mutation is associated with infantile spasms and bitemporal glucose hypometabolism. 23827426

2013
dbSNP: rs796053162
rs796053162
SCN2A
A 0.700 GeneticVariation CLINVAR Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187

2013
dbSNP: rs796053162
rs796053162
SCN2A
A 0.700 GeneticVariation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs1553583712
rs1553583712
SCN2A
T 0.700 CausalMutation CLINVAR De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 22495306

2012