Gene: CAPN3 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085307995
rs1085307995
CAPN3
A 0.700 GeneticVariation CLINVAR Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function. 28915917

2017
dbSNP: rs1085307995
rs1085307995
CAPN3
C 0.700 GeneticVariation CLINVAR Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function. 28915917

2017
dbSNP: rs761935462
rs761935462
CAPN3
G 0.700 GeneticVariation CLINVAR Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene. 27020652

2017
dbSNP: rs774273767
rs774273767
CAPN3
T 0.700 GeneticVariation CLINVAR Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A. 27500519

2017
dbSNP: rs794727697
rs794727697
CAPN3
T 0.700 CausalMutation CLINVAR Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic. 27447704

2017
dbSNP: rs863224957
rs863224957
CAPN3
T 0.700 CausalMutation CLINVAR The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 27708273

2017
dbSNP: rs863224959
rs863224959
CAPN3
T 0.700 CausalMutation CLINVAR The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 27708273

2017
dbSNP: rs863224959
rs863224959
CAPN3
T 0.700 CausalMutation CLINVAR Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031

2017
dbSNP: rs863224965
rs863224965
CAPN3
T 0.700 GeneticVariation CLINVAR Calpainopathy with macrophage-rich, regional inflammatory infiltrates. 28602176

2017
dbSNP: rs868791726
rs868791726
CAPN3
T 0.700 GeneticVariation CLINVAR Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing. 28403181

2017
dbSNP: rs869312852
rs869312852
CAPN3
C 0.700 GeneticVariation CLINVAR Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene. 27020652

2017
dbSNP: rs1274808359
rs1274808359
CAPN3
T 0.700 GeneticVariation CLINVAR Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience. 26060040

2016
dbSNP: rs1275289254
rs1275289254
CAPN3
T 0.700 CausalMutation CLINVAR Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations. 26632398

2016
dbSNP: rs1345121557
rs1345121557
CAPN3
A 0.700 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: rs200379491
rs200379491
CAPN3
G 0.700 CausalMutation CLINVAR Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations. 26632398

2016
dbSNP: rs398123146
rs398123146
CAPN3
CT 0.700 CausalMutation CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218

2016
dbSNP: rs760919949
rs760919949
CAPN3
ATG 0.700 GeneticVariation CLINVAR Natural history of LGMD2A for delineating outcome measures in clinical trials. 27081656

2016
dbSNP: rs761211705
rs761211705
CAPN3
A 0.700 GeneticVariation CLINVAR Natural history of LGMD2A for delineating outcome measures in clinical trials. 27081656

2016
dbSNP: rs768374736
rs768374736
CAPN3
A 0.700 CausalMutation CLINVAR Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations. 26632398

2016
dbSNP: rs778768583
rs778768583
CAPN3
C 0.700 CausalMutation CLINVAR Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene. 27011640

2016
dbSNP: rs794727697
rs794727697
CAPN3
T 0.700 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: rs794727697
rs794727697
CAPN3
T 0.700 CausalMutation CLINVAR Rhabdomyolysis featuring muscular dystrophies. 26810512

2016
dbSNP: rs80338800
rs80338800
CAPN3 ; LOC105370794
C 0.700 CausalMutation CLINVAR Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies. 27142102

2016
dbSNP: rs80338803
rs80338803
CAPN3
GA 0.700 CausalMutation CLINVAR Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations. 26632398

2016
dbSNP: rs863224965
rs863224965
CAPN3
T 0.700 CausalMutation CLINVAR A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. 27259757

2016