Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs150974575
rs150974575
DES
T 0.700 GeneticVariation CLINVAR Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy. 23815709

2013

dbSNP: rs267607483
rs267607483
DES
G 0.700 CausalMutation CLINVAR Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes. 22484823

2013

dbSNP: rs150974575
rs150974575
DES
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

dbSNP: rs267607483
rs267607483
DES
G 0.700 CausalMutation CLINVAR Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered. 23155419

2012

dbSNP: rs267607483
rs267607483
DES
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

dbSNP: rs267607483
rs267607483
DES
G 0.700 CausalMutation CLINVAR Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. 22275259

2012

dbSNP: rs727504448
rs727504448
DES
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

dbSNP: rs150974575
rs150974575
DES
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

dbSNP: rs267607495
rs267607495
DES
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

dbSNP: rs727504448
rs727504448
DES
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

dbSNP: rs150974575
rs150974575
DES
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

dbSNP: rs150974575
rs150974575
DES
T 0.700 GeneticVariation CLINVAR Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. 19587455

2009

dbSNP: rs62636495
rs62636495
DES
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

dbSNP: rs62636495
rs62636495
DES
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

dbSNP: rs727504448
rs727504448
DES
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

dbSNP: rs62636495
rs62636495
DES
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

dbSNP: rs62636495
rs62636495
DES
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

dbSNP: rs150974575
rs150974575
DES
T 0.700 GeneticVariation CLINVAR Desmin myopathy. 14724127

2004

dbSNP: rs267607483
rs267607483
DES
G 0.700 CausalMutation CLINVAR Desmin myopathy. 14724127

2004

dbSNP: rs150974575
rs150974575
DES
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

dbSNP: rs727504448
rs727504448
DES
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

dbSNP: rs150974575
rs150974575
DES
T 0.700 GeneticVariation CLINVAR Desmin splice variants causing cardiac and skeletal myopathy. 11073539

2000

dbSNP: rs150974575
rs150974575
DES
T 0.700 GeneticVariation CLINVAR Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. 10717012

2000

dbSNP: rs267607483
rs267607483
DES
G 0.700 CausalMutation CLINVAR Desmin splice variants causing cardiac and skeletal myopathy. 11073539

2000

dbSNP: rs267607483
rs267607483
DES
G 0.700 CausalMutation CLINVAR Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. 10717012

2000