| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.010 | GeneticVariation | BEFREE | In conclusion, we demonstrate that the KCTD17 c.434 G>A p.(Arg145His) mutation causes autosomal dominant M-D. Further functional studies are warranted to further characterize the nature of KCTD17 contribution to the molecular pathogenesis of M-D. | 25983243 | 2015 | |||||||
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G | 0.800 | CausalMutation | CLINVAR | A major locus for myoclonus-dystonia maps to chromosome 7q in eight families. | 11022010 | 2000 | ||||||
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G | 0.800 | CausalMutation | CLINVAR | Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations. | 18175340 | 2008 | ||||||
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G | 0.800 | CausalMutation | CLINVAR | No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations. | 18355305 | 2008 | ||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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AT | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | Myoclonus-dystonia: significance of large SGCE deletions. | 18205193 | 2008 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | The epsilon-sarcoglycan gene in myoclonic syndromes. | 15728306 | 2005 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria. | 23677909 | 2013 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers. | 17296918 | 2007 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | """Jerky"" dystonia in children: spectrum of phenotypes and genetic testing." | 19117362 | 2009 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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ATTATCAAAT | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | Myoclonus-dystonia: significance of large SGCE deletions. | 18205193 | 2008 |