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 |
rs80338802
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Clinical variability in calpainopathy: what makes the difference?
|
12461690 |
2002 |
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 |
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 |
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 |
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 |
rs80338802
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.
|
7720071 |
1995 |
rs121434544
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
|
27708273 |
2017 |
rs121434544
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
|
27708273 |
2017 |
rs121434548
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
|
27431290 |
2017 |
rs1555420634
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A.
|
27500519 |
2017 |
rs557164942
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders.
|
27363342 |
2017 |
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 |
rs776043976
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.
|
27447704 |
2017 |
rs121434548
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations.
|
26632398 |
2016 |
rs121434548
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.
|
27023906 |
2016 |
rs121434548
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.
|
27055500 |
2016 |
rs141656719
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations.
|
26632398 |
2016 |
rs141656719
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.
|
27055500 |
2016 |
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 |
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 |
rs201736037
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.
|
27055500 |
2016 |
rs777323132
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience.
|
26060040 |
2016 |
rs121434544
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Respiratory chain deficiency in nonmitochondrial disease.
|
27066545 |
2015 |
rs121434544
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Respiratory chain deficiency in nonmitochondrial disease.
|
27066545 |
2015 |