Gene: CAPN3 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338802
rs80338802
CAPN3
A 0.810 CausalMutation CLINVAR Clinical variability in calpainopathy: what makes the difference? 12461690

2002
dbSNP: rs80338802
rs80338802
CAPN3
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
CAPN3
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
CAPN3
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
CAPN3
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
CAPN3
A 0.810 CausalMutation CLINVAR Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. 7720071

1995
dbSNP: rs80338802
rs80338802
CAPN3
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: rs121434544
rs121434544
CAPN3
A 0.800 GeneticVariation CLINVAR Respiratory chain deficiency in nonmitochondrial disease. 27066545

2015
dbSNP: rs121434544
rs121434544
CAPN3
A 0.800 CausalMutation CLINVAR Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island. 8624690

1996
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 CausalMutation CLINVAR Molecular diagnosis in LGMD2A: mutation analysis or protein testing? 15221789

2004
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 CausalMutation CLINVAR Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. 9150160

1997
dbSNP: rs121434544
rs121434544
CAPN3
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
CAPN3
A 0.800 CausalMutation 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 CausalMutation CLINVAR Screening of the CAPN3 gene in patients with possible LGMD2A. 16650086

2006
dbSNP: rs121434544
rs121434544
CAPN3
A 0.800 CausalMutation CLINVAR Calpainopathy-a survey of mutations and polymorphisms. 10330340

1999
dbSNP: rs121434544
rs121434544
CAPN3
A 0.800 CausalMutation CLINVAR Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population. 10102422

1999
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 CausalMutation CLINVAR Respiratory chain deficiency in nonmitochondrial disease. 27066545

2015
dbSNP: rs121434544
rs121434544
CAPN3
A 0.800 GeneticVariation CLINVAR Screening of the CAPN3 gene in patients with possible LGMD2A. 16650086

2006
dbSNP: rs121434544
rs121434544
CAPN3
A 0.800 CausalMutation CLINVAR Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. 7720071

1995
dbSNP: rs121434547
rs121434547
CAPN3
T 0.800 GeneticVariation CLINVAR Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes. 16141003

2005