Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894368
rs104894368
MYL2
0.710 GeneticVariation BEFREE We analysed 14 HCM families of whom 38 family members share the MYL2 c.64G > A [p.(Glu22Lys)] mutation and a common founder haplotype. 26497160

2016
dbSNP: rs104894368
rs104894368
MYL2
T 0.710 GeneticVariation CLINVAR Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers. 26497160

2016
dbSNP: rs104894368
rs104894368
MYL2
T 0.710 GeneticVariation CLINVAR Genetic basis of end-stage hypertrophic cardiomyopathy. 21896538

2011
dbSNP: rs104894368
rs104894368
MYL2
T 0.710 GeneticVariation CLINVAR Myosin regulatory light chain E22K mutation results in decreased cardiac intracellular calcium and force transients. 17606808

2007
dbSNP: rs104894368
rs104894368
MYL2
T 0.710 GeneticVariation CLINVAR E22K mutation of RLC that causes familial hypertrophic cardiomyopathy in heterozygous mouse myocardium: effect on cross-bridge kinetics. 16751284

2006
dbSNP: rs104894368
rs104894368
MYL2
T 0.710 GeneticVariation CLINVAR The E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force and ATPase in transgenic mice. 16076902

2005
dbSNP: rs104894368
rs104894368
MYL2
T 0.710 GeneticVariation CLINVAR Mechanical defects of muscle fibers with myosin light chain mutants that cause cardiomyopathy. 12668451

2003
dbSNP: rs104894368
rs104894368
MYL2
T 0.710 GeneticVariation CLINVAR Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy. 12404107

2002
dbSNP: rs104894368
rs104894368
MYL2
T 0.710 GeneticVariation CLINVAR Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, and phosphorylation. 11102452

2001
dbSNP: rs104894368
rs104894368
MYL2
T 0.710 GeneticVariation CLINVAR In vivo analysis of an essential myosin light chain mutation linked to familial hypertrophic cardiomyopathy. 10948063

2000
dbSNP: rs104894368
rs104894368
MYL2
T 0.710 GeneticVariation CLINVAR Structural and functional responses of mammalian thick filaments to alterations in myosin regulatory light chains. 9724616

1998
dbSNP: rs104894368
rs104894368
MYL2
T 0.710 GeneticVariation CLINVAR 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: rs104894368
rs104894368
MYL2
T 0.710 CausalMutation CLINVAR