rs121913642
|
|
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 |
rs121913642
|
|
Cardiomyopathy, Dilated
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy.
|
22949430 |
2012 |
rs121913642
|
|
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 |
rs121913642
|
|
Cardiomyopathy, Dilated
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Cardiac myosin missense mutations cause dilated cardiomyopathy in mouse models and depress molecular motor function.
|
16983074 |
2006 |
rs121913642
|
|
Cardiomyopathy, Dilated
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.
|
11106718 |
2000 |
rs121913642
|
|
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 |
rs121913647
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1555338080
|
|
Cardiomyopathy, Dilated
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs377491278
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs397516089
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs397516089
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction.
|
24691700 |
2015 |
rs397516089
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Genetic testing for dilated cardiomyopathy in clinical practice.
|
22464770 |
2012 |
rs397516089
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation.
|
20031619 |
2009 |
rs397516122
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs397516123
|
|
Cardiomyopathy, Dilated
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs397516142
|
|
Cardiomyopathy, Dilated
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs397516142
|
|
Cardiomyopathy, Dilated
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy.
|
21211974 |
2011 |
rs397516165
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
rs397516165
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction.
|
26025024 |
2015 |
rs397516165
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians.
|
25448463 |
2014 |
rs397516165
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure.
|
21750094 |
2011 |
rs397516165
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Electrocardiographic features of sarcomere mutation carriers with and without clinically overt hypertrophic cardiomyopathy.
|
21943931 |
2011 |
rs397516224
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs397516248
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A rare mutation in MYH7 gene occurs with overlapping phenotype.
|
25576864 |
2015 |
rs397516248
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.
|
24664454 |
2014 |