Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894655
rs104894655
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.700 GeneticVariation CLINVAR Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. 10655062

2000

dbSNP: rs1064793814
rs1064793814
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.700 CausalMutation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012

dbSNP: rs111033559
rs111033559
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.710 CausalMutation CLINVAR Structure-function relation of phospholamban: modulation of channel activity as a potential regulator of SERCA activity. 23308118

2013

dbSNP: rs111033559
rs111033559
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.710 CausalMutation CLINVAR Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. 12610310

2003

dbSNP: rs111033559
rs111033559
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.710 CausalMutation CLINVAR Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy. 22427649

2012

dbSNP: rs111033559
rs111033559
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.710 CausalMutation CLINVAR Lethal Arg9Cys phospholamban mutation hinders Ca2+-ATPase regulation and phosphorylation by protein kinase A. 21282613

2011

dbSNP: rs111033559
rs111033559
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.710 CausalMutation CLINVAR Acute inotropic and lusitropic effects of cardiomyopathic R9C mutation of phospholamban. 25593317

2015

dbSNP: rs111033559
rs111033559
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.710 CausalMutation CLINVAR Alterations of phospholamban function can exhibit cardiotoxic effects independent of excessive sarcoplasmic reticulum Ca2+-ATPase inhibition. 19139388

2009

dbSNP: rs111033559
rs111033559
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.710 CausalMutation CLINVAR Comparative proteomics profiling of a phospholamban mutant mouse model of dilated cardiomyopathy reveals progressive intracellular stress responses. 18056057

2008

dbSNP: rs111033559
rs111033559
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.710 CausalMutation CLINVAR A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations. 25928149

2015

dbSNP: rs111033559
rs111033559
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.710 CausalMutation CLINVAR Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A. 22707725

2012

dbSNP: rs111033560
rs111033560
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
G 0.710 CausalMutation CLINVAR

dbSNP: rs1114167453
rs1114167453
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
C 0.700 CausalMutation CLINVAR

dbSNP: rs111569862
rs111569862
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.700 GeneticVariation CLINVAR A novel mutation in a large French-Canadian family with LGMD1B. 18714801

2008

dbSNP: rs111569862
rs111569862
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.700 GeneticVariation CLINVAR Long-Term Arrhythmic and Nonarrhythmic Outcomes of Lamin A/C Mutation Carriers. 27884249

2016

dbSNP: rs112188483
rs112188483
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.700 GeneticVariation CLINVAR

dbSNP: rs112240298
rs112240298
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.700 GeneticVariation CLINVAR

dbSNP: rs114638163
rs114638163
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.700 CausalMutation CLINVAR MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. 27799064

2016

dbSNP: rs121912997
rs121912997
DSP
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121913642
rs121913642
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
G 0.700 CausalMutation CLINVAR Human growth hormone stimulates somatomedin C/insulin-like growth factor I production by the human lymphoid cell line, IM-9. 2753225

1989

dbSNP: rs121913642
rs121913642
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
G 0.700 CausalMutation CLINVAR Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. 11106718

2000

dbSNP: rs121913642
rs121913642
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
G 0.700 CausalMutation CLINVAR Hypertrophic and dilated cardiomyopathy mutations differentially affect the molecular force generation of mouse alpha-cardiac myosin in the laser trap assay. 17351073

2007

dbSNP: rs121913642
rs121913642
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
G 0.700 CausalMutation CLINVAR Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy. 22949430

2012

dbSNP: rs121913642
rs121913642
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
G 0.700 CausalMutation CLINVAR Cardiac myosin missense mutations cause dilated cardiomyopathy in mouse models and depress molecular motor function. 16983074

2006

dbSNP: rs121913642
rs121913642
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
G 0.700 CausalMutation CLINVAR Elevated rates of force development and MgATP binding in F764L and S532P myosin mutations causing dilated cardiomyopathy. 23313350

2013