| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | Aggregate penetrance of genomic variants for actionable disorders in European and African Americans. | 27831900 | 2016 |
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|
C | 0.700 | CausalMutation | CLINVAR | Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage. | 27096365 | 2016 |
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|
C | 0.700 | CausalMutation | CLINVAR | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. | 25525159 | 2015 |
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|
C | 0.700 | CausalMutation | CLINVAR | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. | 25637381 | 2015 |
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|
C | 0.700 | CausalMutation | CLINVAR | Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise. | 24510615 | 2014 |
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|
C | 0.700 | CausalMutation | CLINVAR | Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy. | 23674513 | 2013 |
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|
C | 0.700 | CausalMutation | CLINVAR | Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome. | 22267749 | 2012 |
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|
C | 0.700 | CausalMutation | CLINVAR | Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure. | 21750094 | 2011 |
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|
C | 0.700 | CausalMutation | CLINVAR | Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene. | 18957093 | 2008 |
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|
C | 0.700 | CausalMutation | CLINVAR | Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. | 15519027 | 2004 |