|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
Interpreting secondary cardiac disease variants in an exome cohort.
|
23861362 |
2013 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in patients from southern Poland.
|
21332051 |
2011 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
GeneticVariation
|
BEFREE |
one L39X nonsense mutation was identified in 1 of 1,064 HCM proband cases with a family history of HCM, previously found to be negative for the current HCM genetic test panel.
|
21167350 |
2011 |
|
Hypertrophic Cardiomyopathy
|
|
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 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy.
|
17655857 |
2007 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
[Association between phospholamban gene mutation and dilated cardiomyopathy in the Chengdu area].
|
16235537 |
2005 |
|
Cardiomyopathy, Dilated
|
|
0.710 |
GeneticVariation
|
BEFREE |
Strikingly, both individuals homozygous for L39stop developed dilated cardiomyopathy and heart failure, requiring cardiac transplantation at ages 16 and 27.
|
12639993 |
2003 |
|
Hypertrophic Cardiomyopathy
|
|
0.710 |
CausalMutation
|
CLINVAR |
Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human.
|
12639993 |
2003 |
|
Cardiomyopathy, Dilated
|
|
0.710 |
CausalMutation
|
CLINVAR |
|
|
|
|
CARDIOMYOPATHY, DILATED, 1P
|
|
0.700 |
CausalMutation
|
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
CARDIOMYOPATHY, DILATED, 1P
|
|
0.700 |
CausalMutation
|
CLINVAR |
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
|
25611685 |
2015 |
|
CARDIOMYOPATHY, DILATED, 1P
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetic modifiers to the PLN L39X mutation in a patient with DCM and sustained ventricular tachycardia?
|
26535225 |
2015 |
|
CARDIOMYOPATHY, DILATED, 1P
|
|
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 |
|
CARDIOMYOPATHY, DILATED, 1P
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy.
|
17655857 |
2007 |
|
CARDIOMYOPATHY, DILATED, 1P
|
|
0.700 |
CausalMutation
|
CLINVAR |
Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human.
|
12639993 |
2003 |
|
Cardiac Arrest
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Sudden Cardiac Death
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Cardiomyopathies
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Heart failure
|
|
0.010 |
GeneticVariation
|
BEFREE |
Strikingly, both individuals homozygous for L39stop developed dilated cardiomyopathy and heart failure, requiring cardiac transplantation at ages 16 and 27.
|
12639993 |
2003 |
|
Congestive heart failure
|
|
0.010 |
GeneticVariation
|
BEFREE |
Strikingly, both individuals homozygous for L39stop developed dilated cardiomyopathy and heart failure, requiring cardiac transplantation at ages 16 and 27.
|
12639993 |
2003 |