RYR1, ryanodine receptor 1, 6261

N. diseases: 320; N. variants: 248
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118192150
rs118192150
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0751951
Disease:
Central Core Myopathy (disorder) 		0.820 GeneticVariation BEFREE Interestingly, in spite of robust localized junctional expression, the R4892W mutant did not affect SR Ca(2+) release in adult muscle fibers, consistent with a low functional penetrance of this particular CCD-associated mutant. 23308296 2013
dbSNP: rs118192150
rs118192150
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0751951
Disease:
Central Core Myopathy (disorder) 		0.820 GeneticVariation UNIPROT Clinical utility gene card for: Central core disease. 21989361 2012
dbSNP: rs118192150
rs118192150
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0751951
Disease:
Central Core Myopathy (disorder) 		0.820 GeneticVariation UNIPROT Clinical utility gene card for: Multi-minicore disease. 22009146 2012
dbSNP: rs118192150
rs118192150
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0751951
Disease:
Central Core Myopathy (disorder) 		0.820 GeneticVariation BEFREE In this study we report for the first time the functional properties of human myotubes isolated from patients harboring the native RYR1 I4898T and R4893W mutations linked to central core disease. 15299003 2004
dbSNP: rs118192150
rs118192150
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0751951
Disease:
Central Core Myopathy (disorder) 		T 0.820 CausalMutation CLINVAR
dbSNP: rs118192148
rs118192148
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0751951
Disease:
Central Core Myopathy (disorder) 		0.810 GeneticVariation BEFREE Here we evaluated the function of the R4892W and G4896V RyR1 mutants, both associated with central core disease (CCD) in humans, in myotubes and in adult muscle fibers. 23308296 2013
dbSNP: rs118192148
rs118192148
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0751951
Disease:
Central Core Myopathy (disorder) 		0.810 GeneticVariation UNIPROT Clinical utility gene card for: Multi-minicore disease. 22009146 2012
dbSNP: rs118192148
rs118192148
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0751951
Disease:
Central Core Myopathy (disorder) 		0.810 GeneticVariation UNIPROT Clinical utility gene card for: Central core disease. 21989361 2012
dbSNP: rs118192148
rs118192148
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0751951
Disease:
Central Core Myopathy (disorder) 		T 0.810 CausalMutation CLINVAR
dbSNP: rs146876145
rs146876145
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		T 0.800 GeneticVariation CLINVAR Reduced threshold for store overload-induced Ca2+ release is a common defect of RyR1 mutations associated with malignant hyperthermia and central core disease. 28687594 2017
dbSNP: rs146876145
rs146876145
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs763112609
rs763112609
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs118192130
rs118192130
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0751951
Disease:
Central Core Myopathy (disorder) 		A 0.800 GeneticVariation CLINVAR A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy. 25747005 2015
dbSNP: rs146876145
rs146876145
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.800 GeneticVariation UNIPROT Several Ryanodine Receptor Type 1 Gene Mutations of p.Arg2508 Are Potential Sources of Malignant Hyperthermia. 26381711 2015
dbSNP: rs146876145
rs146876145
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs146876145
rs146876145
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.800 GeneticVariation UNIPROT Divergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal Region. 26115329 2015
dbSNP: rs763112609
rs763112609
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.800 GeneticVariation UNIPROT Several Ryanodine Receptor Type 1 Gene Mutations of p.Arg2508 Are Potential Sources of Malignant Hyperthermia. 26381711 2015
dbSNP: rs763112609
rs763112609
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs763112609
rs763112609
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.800 GeneticVariation UNIPROT Divergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal Region. 26115329 2015
dbSNP: rs146876145
rs146876145
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.800 GeneticVariation UNIPROT Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. 23558838 2013
dbSNP: rs146876145
rs146876145
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs763112609
rs763112609
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs763112609
rs763112609
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.800 GeneticVariation UNIPROT Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. 23558838 2013
dbSNP: rs118192115
rs118192115
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0751951
Disease:
Central Core Myopathy (disorder) 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Central core disease. 21989361 2012
dbSNP: rs118192115
rs118192115
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0751951
Disease:
Central Core Myopathy (disorder) 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Multi-minicore disease. 22009146 2012