×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Neuromuscular Diseases
0.200
GeneticVariation
CLINVAR
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
25637381 2015
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Neuromuscular Diseases
0.200
CausalMutation
CLINVAR
Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.
25476234 2014
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Neuromuscular Diseases
0.200
GeneticVariation
CLINVAR
Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
24627108 2014
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Neuromuscular Diseases
0.200
CausalMutation
CLINVAR
RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine.
24951453 2014
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Neuromuscular Diseases
0.200
GeneticVariation
CLINVAR
Using exome data to identify malignant hyperthermia susceptibility mutations.
24195946 2013
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Neuromuscular Diseases
0.200
GeneticVariation
CLINVAR
RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.
23553787 2013
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Neuromuscular Diseases
0.200
CausalMutation
CLINVAR
RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.
23553787 2013
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Neuromuscular Diseases
0.200
CausalMutation
CLINVAR
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.
22473935 2012
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Neuromuscular Diseases
0.200
GeneticVariation
CLINVAR
Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population.
21455645 2011
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Neuromuscular Diseases
0.200
GeneticVariation
CLINVAR
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.
21062345 2011
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Neuromuscular Diseases
0.200
GeneticVariation
CLINVAR
RYR1 mutations are a common cause of congenital myopathies with central nuclei.
20839240 2010
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Neuromuscular Diseases
0.200
CausalMutation
CLINVAR
Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.
20080402 2010
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Neuromuscular Diseases
0.200
CausalMutation
CLINVAR
A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families.
19645060 2009
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Neuromuscular Diseases
0.200
GeneticVariation
CLINVAR
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
18253926 2008
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Neuromuscular Diseases
0.200
CausalMutation
CLINVAR
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
18253926 2008
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Neuromuscular Diseases
0.200
CausalMutation
CLINVAR
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
17483490 2007
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Neuromuscular Diseases
0.150
GeneticVariation
CLINVAR
Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing.
28679633 2017
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Neuromuscular Diseases
0.150
GeneticVariation
CLINVAR
Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction.
28798025 2017
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Neuromuscular Diseases
0.150
GeneticVariation
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159 2015
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Neuromuscular Diseases
0.150
GeneticVariation
CLINVAR
Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories.
24915601 2014
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Neuromuscular Diseases
0.150
CausalMutation
CLINVAR
Heart transplantation in 7 patients from a single family with limb-girdle muscular dystrophy caused by lamin A/C mutation.
19446900 2009
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Neuromuscular Diseases
0.150
GeneticVariation
CLINVAR
A novel mutation in a large French-Canadian family with LGMD1B.
18714801 2008
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Neuromuscular Diseases
0.150
GeneticVariation
CLINVAR
Phenotypic clustering of lamin A/C mutations in neuromuscular patients.
17377071 2007
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Neuromuscular Diseases
0.150
CausalMutation
CLINVAR
[Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations].
15678000 2005
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Neuromuscular Diseases
0.150
GeneticVariation
CLINVAR
An alternative splicing product of the lamin A/C gene lacks exon 10.
8621584 1996