Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		G 0.710 CausalMutation CLINVAR Interpreting secondary cardiac disease variants in an exome cohort. 23861362

2013
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		G 0.710 CausalMutation CLINVAR Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in patients from southern Poland. 21332051

2011
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		G 0.710 CausalMutation CLINVAR PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing. 21167350

2011
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		G 0.710 CausalMutation CLINVAR Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. 17655857

2007
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		G 0.710 CausalMutation CLINVAR [Association between phospholamban gene mutation and dilated cardiomyopathy in the Chengdu area]. 16235537

2005
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		G 0.710 CausalMutation CLINVAR Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human. 12639993

2003
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		G 0.710 CausalMutation CLINVAR

dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P 		G 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P 		G 0.700 CausalMutation CLINVAR Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685

2015
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P 		G 0.700 CausalMutation CLINVAR Genetic modifiers to the PLN L39X mutation in a patient with DCM and sustained ventricular tachycardia? 26535225

2015
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P 		G 0.700 CausalMutation CLINVAR PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing. 21167350

2011
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P 		G 0.700 CausalMutation CLINVAR Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. 17655857

2007
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C1835928
Disease: CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, DILATED, 1P 		G 0.700 CausalMutation CLINVAR Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human. 12639993

2003
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C3151265
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18 		G 0.700 CausalMutation CLINVAR

dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs111033560
rs111033560
PLN ; CEP85L
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		G 0.700 GeneticVariation CLINVAR