Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338802
rs80338802
A 0.810 CausalMutation CLINVAR A homozygous R769Q mutation in the calpain-3 gene and absence of muscle calpain-3 protein confirmed a calpainopathy. 14645990

2003

dbSNP: rs80338802
rs80338802
A 0.810 CausalMutation CLINVAR Clinical variability in calpainopathy: what makes the difference? 12461690

2002

dbSNP: rs80338802
rs80338802
A 0.810 CausalMutation CLINVAR Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A. 9642272

1998

dbSNP: rs80338802
rs80338802
A 0.810 CausalMutation CLINVAR DNA studies of limb-girdle muscular dystrophy type 2A in the Amish exclude a modifying mitochondrial gene and show no evidence for a modifying nuclear gene. 9246005

1997

dbSNP: rs80338802
rs80338802
A 0.810 CausalMutation CLINVAR Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus. 7795603

1995

dbSNP: rs80338802
rs80338802
A 0.810 CausalMutation CLINVAR Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 interval. 7762565

1995

dbSNP: rs80338802
rs80338802
A 0.810 CausalMutation CLINVAR Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. 7720071

1995

dbSNP: rs121434544
rs121434544
A 0.800 CausalMutation CLINVAR The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 27708273

2017

dbSNP: rs121434544
rs121434544
A 0.800 GeneticVariation CLINVAR The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 27708273

2017

dbSNP: rs121434548
rs121434548
A 0.800 CausalMutation CLINVAR Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. 27431290

2017

dbSNP: rs1555420634
rs1555420634
A 0.800 GeneticVariation CLINVAR Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A. 27500519

2017

dbSNP: rs557164942
rs557164942
T 0.800 GeneticVariation CLINVAR Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. 27363342

2017

dbSNP: rs587780290
rs587780290
A 0.800 CausalMutation CLINVAR Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene. 27020652

2017

dbSNP: rs776043976
rs776043976
T 0.800 CausalMutation CLINVAR Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic. 27447704

2017

dbSNP: rs121434548
rs121434548
A 0.800 CausalMutation CLINVAR Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations. 26632398

2016

dbSNP: rs121434548
rs121434548
A 0.800 CausalMutation CLINVAR Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue. 27023906

2016

dbSNP: rs121434548
rs121434548
A 0.800 CausalMutation CLINVAR Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle. 27055500

2016

dbSNP: rs141656719
rs141656719
T 0.800 CausalMutation CLINVAR Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations. 26632398

2016

dbSNP: rs141656719
rs141656719
T 0.800 CausalMutation CLINVAR Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle. 27055500

2016

dbSNP: rs149095128
rs149095128
A 0.800 GeneticVariation CLINVAR Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy. 26886200

2016

dbSNP: rs149095128
rs149095128
A 0.800 CausalMutation CLINVAR Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy. 26886200

2016

dbSNP: rs201736037
rs201736037
G 0.800 GeneticVariation CLINVAR Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle. 27055500

2016

dbSNP: rs777323132
rs777323132
T 0.800 GeneticVariation CLINVAR Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience. 26060040

2016

dbSNP: rs121434544
rs121434544
A 0.800 GeneticVariation CLINVAR Respiratory chain deficiency in nonmitochondrial disease. 27066545

2015

dbSNP: rs121434544
rs121434544
A 0.800 CausalMutation CLINVAR Respiratory chain deficiency in nonmitochondrial disease. 27066545

2015