Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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A | 0.700 | CausalMutation | CLINVAR | Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. | 11791207 | 2002 |
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G | 0.700 | CausalMutation | CLINVAR | The goal of this study was to compare mice heterozygous for Scn1b-C121W (Scn1b(+/W)) with mice heterozygous for the Scn1b-null allele (Scn1b(+/-)) to determine whether the C121W mutation results in loss-of-function in vivo We found that Scn1b(+/W) mice were more susceptible than Scn1b(+/-) and Scn1b(+/+) mice to hyperthermia-induced convulsions, a model of pediatric febrile seizures. | 27277800 | 2016 |
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G | 0.700 | CausalMutation | CLINVAR | Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome. | 24747835 | 2014 |
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G | 0.700 | CausalMutation | CLINVAR | GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. | 24623842 | 2014 |
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G | 0.700 | CausalMutation | CLINVAR | Crystal structure and molecular imaging of the Nav channel β3 subunit indicates a trimeric assembly. | 24567321 | 2014 |
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G | 0.700 | CausalMutation | CLINVAR | Functional modulation of voltage-dependent sodium channel expression by wild type and mutated C121W-β1 subunit. | 23584539 | 2013 |
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G | 0.700 | CausalMutation | CLINVAR | Presence of epilepsy-associated variants in large exome databases. | 23527921 | 2013 |
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G | 0.700 | CausalMutation | CLINVAR | A thermoprotective role of the sodium channel β1 subunit is lost with the β1 (C121W) mutation. | 22292491 | 2012 |
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G | 0.700 | CausalMutation | CLINVAR | Identification of an intra-molecular disulfide bond in the sodium channel β1-subunit. | 22425777 | 2012 |
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G | 0.700 | CausalMutation | CLINVAR | All individuals with confirmed TLE had the C121W mutation; two underwent temporal lobectomy (one with hippocampal sclerosis and one without) and both are seizure free. | 17020904 | 2007 |
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G | 0.700 | CausalMutation | CLINVAR | A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. | 14504340 | 2003 |
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G | 0.700 | CausalMutation | CLINVAR | Membrane proteins with immunoglobulin-like domains--a master superfamily of interaction molecules. | 14690046 | 2003 |
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G | 0.700 | CausalMutation | CLINVAR | Modulation of sodium current in mammalian cells by an epilepsy-correlated beta 1-subunit mutation. | 11866477 | 2002 |
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G | 0.700 | CausalMutation | CLINVAR | Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. | 12011299 | 2002 |
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G | 0.700 | CausalMutation | CLINVAR | Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1. | 12486163 | 2002 |
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G | 0.700 | CausalMutation | CLINVAR | Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain. | 9539778 | 1998 |
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G | 0.700 | CausalMutation | CLINVAR | Molecular determinants of Na+ channel function in the extracellular domain of the beta1 subunit. | 9461582 | 1998 |
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G | 0.700 | CausalMutation | CLINVAR | Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. | 9697698 | 1998 |
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GA | 0.700 | CausalMutation | CLINVAR | A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. | 26938784 | 2016 |
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TC | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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A | 0.700 | CausalMutation | CLINVAR | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR |