Gene: CAPN3 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201736037
rs201736037
CAPN3
G 0.800 GeneticVariation CLINVAR Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing. 27066573

2015
dbSNP: rs587780290
rs587780290
CAPN3
A 0.800 CausalMutation CLINVAR ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases. 26404900

2015
dbSNP: rs773827877
rs773827877
CAPN3
A 0.800 GeneticVariation CLINVAR Neuromuscular Pathology Case. 26301378

2015
dbSNP: rs773827877
rs773827877
CAPN3
A 0.800 GeneticVariation CLINVAR ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases. 26404900

2015
dbSNP: rs776043976
rs776043976
CAPN3
T 0.800 GeneticVariation CLINVAR The Frequency of c.550delA Mutation of the CANP3 Gene in the Polish LGMD2A Population. 26484845

2015
dbSNP: rs776043976
rs776043976
CAPN3
T 0.800 CausalMutation CLINVAR ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases. 26404900

2015
dbSNP: rs121434548
rs121434548
CAPN3
A 0.800 CausalMutation CLINVAR Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. 25135358

2014
dbSNP: rs121434548
rs121434548
CAPN3
A 0.800 CausalMutation CLINVAR Muscle-specific calpain-3 is phosphorylated in its unique insertion region for enrichment in a myofibril fraction. 25252031

2014
dbSNP: rs141656719
rs141656719
CAPN3
T 0.800 CausalMutation CLINVAR Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. 25135358

2014
dbSNP: rs141656719
rs141656719
CAPN3
T 0.800 CausalMutation CLINVAR Muscle-specific calpain-3 is phosphorylated in its unique insertion region for enrichment in a myofibril fraction. 25252031

2014
dbSNP: rs149095128
rs149095128
CAPN3
A 0.800 GeneticVariation CLINVAR Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. 25135358

2014
dbSNP: rs149095128
rs149095128
CAPN3
A 0.800 CausalMutation CLINVAR Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. 25135358

2014
dbSNP: rs1555421271
rs1555421271
CAPN3
G 0.800 GeneticVariation CLINVAR MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples. 25214167

2014
dbSNP: rs369784333
rs369784333
CAPN3
A 0.800 GeneticVariation CLINVAR Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. 25135358

2014
dbSNP: rs557164942
rs557164942
CAPN3
T 0.800 GeneticVariation CLINVAR Redox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients. 25079074

2014
dbSNP: rs776043976
rs776043976
CAPN3
T 0.800 CausalMutation CLINVAR Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. 25135358

2014
dbSNP: rs863224956
rs863224956
CAPN3
A 0.800 GeneticVariation CLINVAR Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. 25135358

2014
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 CausalMutation CLINVAR Resistance training in patients with limb-girdle and becker muscular dystrophies. 23169433

2013
dbSNP: rs773827877
rs773827877
CAPN3
A 0.800 GeneticVariation CLINVAR Eosinophils in hereditary and inflammatory myopathies. 24803842

2013
dbSNP: rs121434548
rs121434548
CAPN3
A 0.800 CausalMutation CLINVAR Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity. 21984748

2012
dbSNP: rs121434548
rs121434548
CAPN3
A 0.800 CausalMutation CLINVAR Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis. 22378277

2012
dbSNP: rs141656719
rs141656719
CAPN3
T 0.800 CausalMutation CLINVAR Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis. 22378277

2012
dbSNP: rs141656719
rs141656719
CAPN3
T 0.800 CausalMutation CLINVAR Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity. 21984748

2012
dbSNP: rs149095128
rs149095128
CAPN3
A 0.800 CausalMutation CLINVAR Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies. 22443334

2012