Gene: RYR1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1248355799
rs1248355799
RYR1
C 0.700 CausalMutation CLINVAR Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum. 23553484

2013
dbSNP: rs1248355799
rs1248355799
RYR1
C 0.700 CausalMutation CLINVAR Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. 23394784

2013
dbSNP: rs1248355799
rs1248355799
RYR1
C 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in recessive RYR1-related myopathies. 23919265

2013
dbSNP: rs1555801872
rs1555801872
RYR1
ACATGGTGTACTACTT 0.700 GeneticVariation CLINVAR Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum. 23553484

2013
dbSNP: rs1555801872
rs1555801872
RYR1
ACATGGTGTACTACTT 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in recessive RYR1-related myopathies. 23919265

2013
dbSNP: rs1555801872
rs1555801872
RYR1
ACATGGTGTACTACTT 0.700 GeneticVariation CLINVAR Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. 23394784

2013
dbSNP: rs756138074
rs756138074
RYR1
G 0.700 GeneticVariation CLINVAR Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. 23394784

2013
dbSNP: rs756138074
rs756138074
RYR1
G 0.700 GeneticVariation CLINVAR Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum. 23553484

2013
dbSNP: rs756138074
rs756138074
RYR1
G 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in recessive RYR1-related myopathies. 23919265

2013
dbSNP: rs1248355799
rs1248355799
RYR1
C 0.700 CausalMutation CLINVAR Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. 20583297

2010
dbSNP: rs1248355799
rs1248355799
RYR1
C 0.700 CausalMutation CLINVAR RYR1 mutations are a common cause of congenital myopathies with central nuclei. 20839240

2010
dbSNP: rs1555801872
rs1555801872
RYR1
ACATGGTGTACTACTT 0.700 GeneticVariation CLINVAR RYR1 mutations are a common cause of congenital myopathies with central nuclei. 20839240

2010
dbSNP: rs1555801872
rs1555801872
RYR1
ACATGGTGTACTACTT 0.700 GeneticVariation CLINVAR Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. 20583297

2010
dbSNP: rs756138074
rs756138074
RYR1
G 0.700 GeneticVariation CLINVAR Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. 20583297

2010
dbSNP: rs756138074
rs756138074
RYR1
G 0.700 GeneticVariation CLINVAR RYR1 mutations are a common cause of congenital myopathies with central nuclei. 20839240

2010
dbSNP: rs1248355799
rs1248355799
RYR1
C 0.700 CausalMutation CLINVAR King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene. 18765655

2008
dbSNP: rs1555801872
rs1555801872
RYR1
ACATGGTGTACTACTT 0.700 GeneticVariation CLINVAR King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene. 18765655

2008
dbSNP: rs756138074
rs756138074
RYR1
G 0.700 GeneticVariation CLINVAR King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene. 18765655

2008
dbSNP: rs1248355799
rs1248355799
RYR1
C 0.700 CausalMutation CLINVAR Mutations in RYR1 in malignant hyperthermia and central core disease. 16917943

2006
dbSNP: rs1555801872
rs1555801872
RYR1
ACATGGTGTACTACTT 0.700 GeneticVariation CLINVAR Mutations in RYR1 in malignant hyperthermia and central core disease. 16917943

2006
dbSNP: rs756138074
rs756138074
RYR1
G 0.700 GeneticVariation CLINVAR Mutations in RYR1 in malignant hyperthermia and central core disease. 16917943

2006
dbSNP: rs1248355799
rs1248355799
RYR1
C 0.700 CausalMutation CLINVAR Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. 16163667

2005
dbSNP: rs1248355799
rs1248355799
RYR1
C 0.700 CausalMutation CLINVAR Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. 16380615

2005
dbSNP: rs1555801872
rs1555801872
RYR1
ACATGGTGTACTACTT 0.700 GeneticVariation CLINVAR Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. 16163667

2005
dbSNP: rs1555801872
rs1555801872
RYR1
ACATGGTGTACTACTT 0.700 GeneticVariation CLINVAR Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. 16380615

2005