Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients. | 28708303 | 2018 |
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|
A | 0.700 | CausalMutation | CLINVAR | Ultra-rare genetic variation in common epilepsies: a case-control sequencing study. | 28102150 | 2017 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations. | 28202706 | 2017 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Ultra-rare genetic variation in common epilepsies: a case-control sequencing study. | 28102150 | 2017 |
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|
G | 0.700 | CausalMutation | CLINVAR | A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. | 29186148 | 2017 |
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|
A | 0.700 | CausalMutation | CLINVAR | Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. | 27781031 | 2016 |
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|
TA | 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 | Pitfalls in genetic testing: the story of missed SCN1A mutations. | 27465585 | 2016 |
|||
|
A | 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 | Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. | 25818041 | 2015 |
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|
C | 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 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | UniProt: a hub for protein information. | 25348405 | 2015 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | UniProt: a hub for protein information. | 25348405 | 2015 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | UniProt: a hub for protein information. | 25348405 | 2015 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | UniProt: a hub for protein information. | 25348405 | 2015 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | UniProt: a hub for protein information. | 25348405 | 2015 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | UniProt: a hub for protein information. | 25348405 | 2015 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | UniProt: a hub for protein information. | 25348405 | 2015 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | UniProt: a hub for protein information. | 25348405 | 2015 |
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|
G | 0.700 | CausalMutation | CLINVAR | SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet. | 25459969 | 2015 |
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|
C | 0.700 | CausalMutation | CLINVAR | UniProt: a hub for protein information. | 25348405 | 2015 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | UniProt: a hub for protein information. | 25348405 | 2015 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | UniProt: a hub for protein information. | 25348405 | 2015 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations. | 24168886 | 2014 |