Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs774909609
rs774909609
DNAJB5 ; DNAJB5-DT
T 0.700 GeneticVariation CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172

2015
dbSNP: rs1563221666
rs1563221666
SFTPC
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167341
rs1114167341
CRYAB
0.010 GeneticVariation BEFREE We identified by a next-generation sequencing panel the novel CRYAB missense mutation c.326A>G, p.D109G in a small family with RCM in combination with skeletal myopathy with an early onset of the disease. 28493373

2017
dbSNP: rs1471907518
rs1471907518
LMNA
0.010 GeneticVariation BEFREE This reveals that the LMNA gene insertion mutation (T510Y frameshift mutation) can cause dilated cardiomyopathy, conduction system disease, and sudden cardiac death without skeletal myopathy, clinically manifested with early onset, severe symptoms, and poor prognosis. 23793583

2013
dbSNP: rs58013325
rs58013325
LMNA
0.010 GeneticVariation BEFREE This reveals that the LMNA gene insertion mutation (T510Y frameshift mutation) can cause dilated cardiomyopathy, conduction system disease, and sudden cardiac death without skeletal myopathy, clinically manifested with early onset, severe symptoms, and poor prognosis. 23793583

2013
dbSNP: rs61368398
rs61368398
DES
0.010 GeneticVariation BEFREE A novel desmin R355P mutation causes cardiac and skeletal myopathy. 16009553

2005
dbSNP: rs121913003
rs121913003
DES
0.010 GeneticVariation BEFREE These observations strongly confirm that the de novo R406W desmin mutation is the genetic basis for early-onset cardiac and skeletal myopathy in patients with sporadic disease and indicate that desmin position 406 is a hot spot for spontaneous mutations. 14991347

2004
dbSNP: rs121913002
rs121913002
DES
0.010 GeneticVariation BEFREE Of interest, the same I451M mutation has previously been reported in patients with cardiomyopathy and no signs of skeletal myopathy. 12609507

2003
dbSNP: rs28933098
rs28933098
MYH7 ; MHRT
0.010 GeneticVariation BEFREE We identified a missense mutation, Arg1845Trp, in the rod region of slow/beta-cardiac MyHC in patients with a skeletal myopathy from two different families. 14520662

2003
dbSNP: rs59962885
rs59962885
DES
0.010 GeneticVariation BEFREE A heterozygous A337P mutation was identified in a family with an adult-onset skeletal myopathy and mild cardiac involvement. 9697706

1998