|
rs1554875409
|
|
Cardiomyopathy, Dilated
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
BAG3: a new player in the heart failure paradigm.
|
25925243 |
2015 |
|
rs876657767
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs1565053147
|
|
Cardiomyopathy, Dilated
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs1565053085
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs1565050320
|
|
Cardiomyopathy, Dilated
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs727504448
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Desmin splice variants causing cardiac and skeletal myopathy.
|
11073539 |
2000 |
|
rs727504448
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.
|
22153487 |
2012 |
|
rs727504448
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene.
|
20696008 |
2011 |
|
rs727504448
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.
|
12620971 |
2003 |
|
rs727504448
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy.
|
19716701 |
2009 |
|
rs62636495
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.
|
19879535 |
2009 |
|
rs62636495
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene.
|
17720647 |
2007 |
|
rs62636495
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family.
|
18061454 |
2008 |
|
rs62636495
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
CausalMutation
|
CLINVAR |
"Disease mutations in the ""head"" domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties."
|
19763525 |
2009 |
|
rs267607495
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene.
|
20696008 |
2011 |
|
rs267607490
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs267607490
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs267607483
|
|
Cardiomyopathy, Dilated
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered.
|
23155419 |
2012 |
|
rs267607483
|
|
Cardiomyopathy, Dilated
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Desmin splice variants causing cardiac and skeletal myopathy.
|
11073539 |
2000 |
|
rs267607483
|
|
Cardiomyopathy, Dilated
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes.
|
22484823 |
2013 |
|
rs267607483
|
|
Cardiomyopathy, Dilated
|
G |
0.700 |
CausalMutation
|
CLINVAR |
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.
|
22153487 |
2012 |
|
rs267607483
|
|
Cardiomyopathy, Dilated
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics.
|
22275259 |
2012 |
|
rs267607483
|
|
Cardiomyopathy, Dilated
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Desmin myopathy.
|
14724127 |
2004 |
|
rs267607483
|
|
Cardiomyopathy, Dilated
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
|
10717012 |
2000 |
|
rs150974575
|
|
Cardiomyopathy, Dilated
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.
|
22153487 |
2012 |