Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913658
rs121913658
MYL2
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs121913658
rs121913658
MYL2
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs121913658
rs121913658
MYL2
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs121913658
rs121913658
MYL2
0.800 GeneticVariation UNIPROT Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). 21267010

2011
dbSNP: rs121913658
rs121913658
MYL2
0.800 GeneticVariation UNIPROT Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. 12818575

2003
dbSNP: rs121913658
rs121913658
MYL2
0.800 GeneticVariation UNIPROT Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003
dbSNP: rs121913658
rs121913658
MYL2
0.800 GeneticVariation UNIPROT Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy. 12404107

2002
dbSNP: rs121913658
rs121913658
MYL2
0.800 GeneticVariation UNIPROT Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, and phosphorylation. 11102452

2001
dbSNP: rs121913658
rs121913658
MYL2
0.800 GeneticVariation UNIPROT Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy. 9535554

1998
dbSNP: rs121913658
rs121913658
MYL2
0.800 GeneticVariation UNIPROT Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. 8673105

1996
dbSNP: rs121913658
rs121913658
MYL2
C 0.800 CausalMutation CLINVAR