Gene: CAPN3 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434544
rs121434544
CAPN3
A 0.800 GeneticVariation CLINVAR Respiratory chain deficiency in nonmitochondrial disease. 27066545

2015
dbSNP: rs121434544
rs121434544
CAPN3
A 0.800 GeneticVariation CLINVAR Protein sequences encode safeguards against aggregation. 19156839

2009
dbSNP: rs121434544
rs121434544
CAPN3
A 0.800 GeneticVariation CLINVAR Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population. 10102422

1999
dbSNP: rs121434544
rs121434544
CAPN3
A 0.800 GeneticVariation CLINVAR Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A. 9642272

1998
dbSNP: rs121434544
rs121434544
CAPN3
A 0.800 GeneticVariation CLINVAR The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 27708273

2017
dbSNP: rs121434544
rs121434544
CAPN3
A 0.800 GeneticVariation CLINVAR Calpainopathy-a survey of mutations and polymorphisms. 10330340

1999
dbSNP: rs121434544
rs121434544
CAPN3
A 0.800 GeneticVariation CLINVAR Screening of the CAPN3 gene in patients with possible LGMD2A. 16650086

2006
dbSNP: rs121434547
rs121434547
CAPN3
T 0.800 GeneticVariation CLINVAR Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes. 16141003

2005
dbSNP: rs121434547
rs121434547
CAPN3
T 0.800 GeneticVariation CLINVAR NF-kappaB-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2A. 18073330

2008
dbSNP: rs121434547
rs121434547
CAPN3
T 0.800 GeneticVariation CLINVAR Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A. 9642272

1998
dbSNP: rs121434547
rs121434547
CAPN3
T 0.800 GeneticVariation CLINVAR Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families. 17562833

2007
dbSNP: rs121434547
rs121434547
CAPN3
T 0.800 GeneticVariation CLINVAR LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. 15689361

2005
dbSNP: rs121434547
rs121434547
CAPN3
T 0.800 GeneticVariation CLINVAR Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. 9150160

1997
dbSNP: rs121434548
rs121434548
CAPN3
A 0.800 GeneticVariation CLINVAR Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression. 14578192

2003
dbSNP: rs121434548
rs121434548
CAPN3
A 0.800 GeneticVariation CLINVAR Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations. 16971480

2007
dbSNP: rs141656719
rs141656719
CAPN3
T 0.800 GeneticVariation CLINVAR Limb-girdle muscular dystrophy type 2A can result from accelerated autoproteolytic inactivation of calpain 3. 19226146

2009
dbSNP: rs141656719
rs141656719
CAPN3
T 0.800 GeneticVariation CLINVAR Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A. 18055493

2007
dbSNP: rs141656719
rs141656719
CAPN3
T 0.800 GeneticVariation CLINVAR Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression. 14578192

2003
dbSNP: rs141656719
rs141656719
CAPN3
T 0.800 GeneticVariation CLINVAR Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A. 9642272

1998
dbSNP: rs149095128
rs149095128
CAPN3
A 0.800 GeneticVariation CLINVAR Immunohistochemical analysis of calpain 3: advantages and limitations in diagnosing LGMD2A. 19556129

2009
dbSNP: rs149095128
rs149095128
CAPN3
A 0.800 GeneticVariation CLINVAR Resistance training in patients with limb-girdle and becker muscular dystrophies. 23169433

2013
dbSNP: rs149095128
rs149095128
CAPN3
A 0.800 GeneticVariation CLINVAR Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). 11053681

2000
dbSNP: rs149095128
rs149095128
CAPN3
A 0.800 GeneticVariation CLINVAR Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A. 18055493

2007
dbSNP: rs149095128
rs149095128
CAPN3
A 0.800 GeneticVariation CLINVAR Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. 17994539

2008
dbSNP: rs149095128
rs149095128
CAPN3
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