Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917753
rs121917753
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease:
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.810 GeneticVariation UNIPROT Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies. 30144217 2018
dbSNP: rs121917753
rs121917753
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease:
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.810 GeneticVariation UNIPROT Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy. 29844171 2018
dbSNP: rs121917753
rs121917753
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease:
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.810 GeneticVariation UNIPROT SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. 26291284 2015
dbSNP: rs121917753
rs121917753
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease:
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.810 GeneticVariation UNIPROT Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. 25982755 2015
dbSNP: rs121917753
rs121917753
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease:
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.810 GeneticVariation UNIPROT An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current. 23758435 2013
dbSNP: rs121917753
rs121917753
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease:
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.810 GeneticVariation UNIPROT Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. 23360469 2013
dbSNP: rs121917753
rs121917753
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease:
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.810 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
dbSNP: rs121917753
rs121917753
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease:
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.810 GeneticVariation UNIPROT Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. 20371507 2010
dbSNP: rs121917753
rs121917753
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease:
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.810 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421 2010
dbSNP: rs121917753
rs121917753
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease:
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		A 0.810 CausalMutation CLINVAR We examined three BFNIS mutations (R1319Q, L1330F, and L1563V) using whole-cell patch-clamp recording of heterologously expressed human Na(V)1.2. 18479388 2008
dbSNP: rs121917753
rs121917753
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease:
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.810 GeneticVariation BEFREE We examined three BFNIS mutations (R1319Q, L1330F, and L1563V) using whole-cell patch-clamp recording of heterologously expressed human Na(V)1.2. 18479388 2008
dbSNP: rs121917753
rs121917753
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease:
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.810 GeneticVariation UNIPROT We examined three BFNIS mutations (R1319Q, L1330F, and L1563V) using whole-cell patch-clamp recording of heterologously expressed human Na(V)1.2. 18479388 2008
dbSNP: rs121917753
rs121917753
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease:
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.810 GeneticVariation UNIPROT SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum. 17386050 2007
dbSNP: rs121917753
rs121917753
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease:
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.810 GeneticVariation UNIPROT Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures. 17021166 2006
dbSNP: rs121917753
rs121917753
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease:
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.810 GeneticVariation UNIPROT A novel SCN2A mutation in family with benign familial infantile seizures. 16417554 2006
dbSNP: rs121917753
rs121917753
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease:
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		A 0.810 CausalMutation CLINVAR Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. 15048894 2004
dbSNP: rs121917753
rs121917753
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease:
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.810 GeneticVariation UNIPROT Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. 15048894 2004
dbSNP: rs121917753
rs121917753
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease:
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.810 GeneticVariation UNIPROT Sodium-channel defects in benign familial neonatal-infantile seizures. 12243921 2002
dbSNP: rs121917753
rs121917753
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease:
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.810 GeneticVariation UNIPROT A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. 11371648 2001
dbSNP: rs387906684
rs387906684
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.800 GeneticVariation UNIPROT Ketogenic diet as a successful early treatment modality for SCN2A mutation. 30415926 2019
dbSNP: rs387906685
rs387906685
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.800 GeneticVariation UNIPROT Ketogenic diet as a successful early treatment modality for SCN2A mutation. 30415926 2019
dbSNP: rs387906686
rs387906686
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.800 GeneticVariation UNIPROT Ketogenic diet as a successful early treatment modality for SCN2A mutation. 30415926 2019
dbSNP: rs121917748
rs121917748
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease:
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.800 GeneticVariation UNIPROT Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy. 29844171 2018
dbSNP: rs121917748
rs121917748
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease:
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.800 GeneticVariation UNIPROT Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies. 30144217 2018
dbSNP: rs121917749
rs121917749
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease:
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		0.800 GeneticVariation UNIPROT Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy. 29844171 2018