| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies. | 19786696 | 2009 |
|||
|
0.700 | GeneticVariation | UNIPROT | Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures. | 18479388 | 2008 |
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|
0.700 | GeneticVariation | UNIPROT | SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum. | 17386050 | 2007 |
||||
|
0.700 | GeneticVariation | UNIPROT | Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures. | 17021166 | 2006 |
||||
|
0.700 | GeneticVariation | UNIPROT | A novel SCN2A mutation in family with benign familial infantile seizures. | 16417554 | 2006 |
||||
|
0.700 | GeneticVariation | UNIPROT | Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. | 15048894 | 2004 |
||||
|
0.700 | GeneticVariation | UNIPROT | Sodium-channel defects in benign familial neonatal-infantile seizures. | 12243921 | 2002 |
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|
0.700 | 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 |
||||
|
0.700 | GeneticVariation | UNIPROT | |||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
AT | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
GA | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR |