RYR1, ryanodine receptor 1, 6261

N. diseases: 29; N. variants: 225
Disease: Malignant hyperthermia susceptibility type 1 ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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 Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. 23558838 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 Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families. 20681998 2011
dbSNP: rs763112609
rs763112609
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.800 GeneticVariation UNIPROT Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene. 15448513 2004
dbSNP: rs763112609
rs763112609
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.800 GeneticVariation UNIPROT Malignant hyperthermia genetic testing in North America Working Group Meeting. Bethesda, Maryland. September 4-5, 2002. 14870754 2004
dbSNP: rs763112609
rs763112609
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.800 GeneticVariation UNIPROT RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene. 14985404 2004
dbSNP: rs763112609
rs763112609
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.800 GeneticVariation UNIPROT Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region. 12208234 2002
dbSNP: rs763112609
rs763112609
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.800 GeneticVariation UNIPROT Novel mutations in C-terminal channel region of the ryanodine receptor in malignant hyperthermia patients. 11928716 2002
dbSNP: rs763112609
rs763112609
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.800 GeneticVariation UNIPROT Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations. 12059893 2002
dbSNP: rs763112609
rs763112609
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.800 GeneticVariation UNIPROT Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia. 12123492 2002
dbSNP: rs763112609
rs763112609
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.800 GeneticVariation UNIPROT Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families. 11525881 2001
dbSNP: rs763112609
rs763112609
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.800 GeneticVariation UNIPROT Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype. 11389482 2001
dbSNP: rs763112609
rs763112609
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.800 GeneticVariation UNIPROT North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations. 11575529 2001
dbSNP: rs763112609
rs763112609
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.800 GeneticVariation UNIPROT Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia. 9450902 1998
dbSNP: rs763112609
rs763112609
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.800 GeneticVariation UNIPROT Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred. 9066328 1997
dbSNP: rs763112609
rs763112609
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.800 GeneticVariation UNIPROT Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility. 7751854 1995
dbSNP: rs763112609
rs763112609
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.800 GeneticVariation UNIPROT Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies. 8012359 1994
dbSNP: rs763112609
rs763112609
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.800 GeneticVariation UNIPROT Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees. 7849712 1994
dbSNP: rs763112609
rs763112609
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.800 GeneticVariation UNIPROT Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. 8220423 1993
dbSNP: rs763112609
rs763112609
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		0.800 GeneticVariation UNIPROT A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. 1774074 1991
dbSNP: rs763112609
rs763112609
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C2930980
Disease:
Malignant hyperthermia susceptibility type 1 		T 0.800 GeneticVariation CLINVAR