Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519526
rs1057519526
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		T 0.800 CausalMutation CLINVAR
dbSNP: rs387906684
rs387906684
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		A 0.800 CausalMutation CLINVAR De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies. 19786696 2009
dbSNP: rs387906684
rs387906684
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs387906685
rs387906685
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		G 0.800 CausalMutation CLINVAR
dbSNP: rs387906686
rs387906686
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		T 0.800 CausalMutation CLINVAR
dbSNP: rs387906686
rs387906686
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs794727152
rs794727152
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		A 0.800 CausalMutation CLINVAR De novo R853Q mutation of SCN2A gene and West syndrome. 25772804 2015
dbSNP: rs794727152
rs794727152
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		A 0.800 CausalMutation CLINVAR Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 28379373 2017
dbSNP: rs794727152
rs794727152
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		A 0.800 CausalMutation CLINVAR Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. 23935176 2013
dbSNP: rs794727152
rs794727152
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		A 0.800 CausalMutation CLINVAR A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. 29186148 2017
dbSNP: rs794727152
rs794727152
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs796053124
rs796053124
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		T 0.800 GeneticVariation CLINVAR
dbSNP: rs796053126
rs796053126
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		A 0.800 CausalMutation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591 2016
dbSNP: rs796053126
rs796053126
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		A 0.800 GeneticVariation CLINVAR Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. 23935176 2013
dbSNP: rs796053126
rs796053126
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		A 0.800 CausalMutation CLINVAR Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
dbSNP: rs796053126
rs796053126
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		A 0.800 CausalMutation CLINVAR Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. 23935176 2013
dbSNP: rs796053126
rs796053126
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		A 0.800 CausalMutation CLINVAR Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 28379373 2017
dbSNP: rs796053126
rs796053126
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		A 0.800 CausalMutation CLINVAR Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine. 27867041 2017
dbSNP: rs1060503101
rs1060503101
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1060503102
rs1060503102
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121917751
rs121917751
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		A 0.700 CausalMutation CLINVAR Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. 15048894 2004
dbSNP: rs121917751
rs121917751
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs121917751
rs121917751
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		A 0.700 CausalMutation CLINVAR Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort. 29215089 2018
dbSNP: rs121917752
rs121917752
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		A 0.700 CausalMutation CLINVAR Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. 23360469 2013
dbSNP: rs121917752
rs121917752
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		A 0.700 CausalMutation CLINVAR Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. 15048894 2004