|
rs121918312
|
|
Myopathy, Myofibrillar, Bag3-Related
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Cardiomyocyte-Specific Human Bcl2-Associated Anthanogene 3 P209L Expression Induces Mitochondrial Fragmentation, Bcl2-Associated Anthanogene 3 Haploinsufficiency, and Activates p38 Signaling.
|
27321750 |
2016 |
|
rs121918312
|
|
Myopathy, Myofibrillar, Bag3-Related
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy.
|
27443559 |
2016 |
|
rs121918312
|
|
Myopathy, Myofibrillar, Bag3-Related
|
T |
0.800 |
CausalMutation
|
CLINVAR |
BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome.
|
26545904 |
2015 |
|
rs121918312
|
|
Myopathy, Myofibrillar, Bag3-Related
|
T |
0.800 |
CausalMutation
|
CLINVAR |
BAG3 myofibrillar myopathy presenting with cardiomyopathy.
|
25728519 |
2015 |
|
rs121918312
|
|
Myopathy, Myofibrillar, Bag3-Related
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.
|
25208129 |
2014 |
|
rs121918312
|
|
Myopathy, Myofibrillar, Bag3-Related
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Zebrafish models of BAG3 myofibrillar myopathy suggest a toxic gain of function leading to BAG3 insufficiency.
|
25273835 |
2014 |
|
rs121918312
|
|
Myopathy, Myofibrillar, Bag3-Related
|
T |
0.800 |
CausalMutation
|
CLINVAR |
BAG3-related myofibrillar myopathy in a Chinese family.
|
21361913 |
2012 |
|
rs121918312
|
|
Myopathy, Myofibrillar, Bag3-Related
|
T |
0.800 |
CausalMutation
|
CLINVAR |
BAG3 mutations: another cause of giant axonal neuropathy.
|
22734908 |
2012 |
|
rs121918312
|
|
Myopathy, Myofibrillar, Bag3-Related
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes.
|
21898660 |
2011 |
|
rs121918312
|
|
Myopathy, Myofibrillar, Bag3-Related
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy.
|
21676617 |
2011 |
|
rs121918312
|
|
Myopathy, Myofibrillar, Bag3-Related
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation.
|
20605452 |
2010 |
|
rs121918312
|
|
Myopathy, Myofibrillar, Bag3-Related
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Mutation in BAG3 causes severe dominant childhood muscular dystrophy.
|
19085932 |
2009 |
|
rs121918312
|
|
Myopathy, Myofibrillar, Bag3-Related
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs387906874
|
|
CARDIOMYOPATHY, DILATED, 1HH
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs387906876
|
|
CARDIOMYOPATHY, DILATED, 1HH
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs397514507
|
|
CARDIOMYOPATHY, DILATED, 1HH
|
C |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs397516881
|
|
CARDIOMYOPATHY, DILATED, 1HH
|
A |
0.800 |
CausalMutation
|
CLINVAR |
The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation.
|
25008357 |
2014 |
|
rs397516881
|
|
CARDIOMYOPATHY, DILATED, 1HH
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Activation of multiple signal transduction pathways by endothelin in cultured human vascular smooth muscle cells.
|
2159883 |
1990 |
|
rs121918312
|
|
Myofibrillar Myopathy
|
T |
0.730 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs397516881
|
|
Cardiomyopathy, Dilated
|
A |
0.710 |
CausalMutation
|
CLINVAR |
Loss-of-function mutations in co-chaperone BAG3 destabilize small HSPs and cause cardiomyopathy.
|
28737513 |
2017 |
|
rs397516881
|
|
Cardiomyopathy, Dilated
|
A |
0.710 |
CausalMutation
|
CLINVAR |
The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation.
|
25008357 |
2014 |
|
rs397516881
|
|
Cardiomyopathy, Dilated
|
A |
0.710 |
CausalMutation
|
CLINVAR |
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.
|
22337857 |
2012 |
|
rs397516881
|
|
Cardiomyopathy, Dilated
|
A |
0.710 |
CausalMutation
|
CLINVAR |
A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.
|
21459883 |
2011 |
|
rs1057517945
|
|
Myopathy, Myofibrillar, Bag3-Related
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.
|
21353195 |
2011 |
|
rs1057517945
|
|
CARDIOMYOPATHY, DILATED, 1HH
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.
|
21353195 |
2011 |