Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome. | 28079314 | 2017 |
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|
T | 0.700 | CausalMutation | CLINVAR | SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome. | 28079314 | 2017 |
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|
C | 0.700 | GeneticVariation | CLINVAR | Clinical implications of SCN1A missense and truncation variants in a large Japanese cohort with Dravet syndrome. | 28012175 | 2017 |
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|
G | 0.700 | CausalMutation | CLINVAR | Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. | 27781031 | 2016 |
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|
C | 0.700 | CausalMutation | CLINVAR | Pitfalls in genetic testing: the story of missed SCN1A mutations. | 27465585 | 2016 |
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|
G | 0.700 | CausalMutation | CLINVAR | Pitfalls in genetic testing: the story of missed SCN1A mutations. | 27465585 | 2016 |
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|
A | 0.700 | CausalMutation | CLINVAR | Audit of use of stiripentol in adults with Dravet syndrome. | 27231140 | 2017 |
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|
T | 0.700 | CausalMutation | CLINVAR | Audit of use of stiripentol in adults with Dravet syndrome. | 27231140 | 2017 |
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|
T | 0.700 | CausalMutation | CLINVAR | "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome." | 26096185 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. | 25818041 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. | 25401298 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | UniProt: a hub for protein information. | 25348405 | 2015 |
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|
G | 0.700 | CausalMutation | CLINVAR | UniProt: a hub for protein information. | 25348405 | 2015 |
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|
A | 0.700 | GeneticVariation | CLINVAR | UniProt: a hub for protein information. | 25348405 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | UniProt: a hub for protein information. | 25348405 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | UniProt: a hub for protein information. | 25348405 | 2015 |
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|
G | 0.700 | CausalMutation | CLINVAR | UniProt: a hub for protein information. | 25348405 | 2015 |
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|
G | 0.700 | GeneticVariation | CLINVAR | UniProt: a hub for protein information. | 25348405 | 2015 |
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|
C | 0.700 | GeneticVariation | CLINVAR | UniProt: a hub for protein information. | 25348405 | 2015 |
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|
CCAT | 0.700 | GeneticVariation | CLINVAR | UniProt: a hub for protein information. | 25348405 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | UniProt: a hub for protein information. | 25348405 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | Lamotrigine can be beneficial in patients with Dravet syndrome. | 25243660 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | Lamotrigine can be beneficial in patients with Dravet syndrome. | 25243660 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | Long-term course of Dravet syndrome: a study from an epilepsy center in Japan. | 24502503 | 2014 |
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|
G | 0.700 | CausalMutation | CLINVAR | De novo mutations in epileptic encephalopathies. | 23934111 | 2013 |