| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel. | 29056246 | 2017 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. | 17068770 | 2007 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Clinical and genetic analysis of three Korean children with pyridoxine-dependent epilepsy. | 22371912 | 2012 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Mutations in antiquitin in individuals with pyridoxine-dependent seizures. | 16491085 | 2006 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination. | 26224730 | 2015 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients. | 19128417 | 2009 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy. | 22784480 | 2012 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency. | 20370816 | 2010 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
CT | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
TG | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | De novo mutations in epileptic encephalopathies. | 23934111 | 2013 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR |