Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918312
rs121918312
BAG3
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
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
dbSNP: rs121918312
rs121918312
BAG3
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
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
dbSNP: rs121918312
rs121918312
BAG3
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		T 0.800 CausalMutation CLINVAR BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome. 26545904

2015
dbSNP: rs121918312
rs121918312
BAG3
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		T 0.800 CausalMutation CLINVAR BAG3 myofibrillar myopathy presenting with cardiomyopathy. 25728519

2015
dbSNP: rs121918312
rs121918312
BAG3
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
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
dbSNP: rs121918312
rs121918312
BAG3
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
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
dbSNP: rs121918312
rs121918312
BAG3
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		T 0.800 CausalMutation CLINVAR BAG3-related myofibrillar myopathy in a Chinese family. 21361913

2012
dbSNP: rs121918312
rs121918312
BAG3
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		T 0.800 CausalMutation CLINVAR BAG3 mutations: another cause of giant axonal neuropathy. 22734908

2012
dbSNP: rs121918312
rs121918312
BAG3
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
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
dbSNP: rs121918312
rs121918312
BAG3
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		T 0.800 CausalMutation CLINVAR Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy. 21676617

2011
dbSNP: rs121918312
rs121918312
BAG3
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		T 0.800 CausalMutation CLINVAR Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. 20605452

2010
dbSNP: rs121918312
rs121918312
BAG3
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		T 0.800 CausalMutation CLINVAR Mutation in BAG3 causes severe dominant childhood muscular dystrophy. 19085932

2009
dbSNP: rs121918312
rs121918312
BAG3
CUI: C2751831
Disease: Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Bag3-Related 		A 0.800 CausalMutation CLINVAR