Gene: RYR1 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs146876145
rs146876145
RYR1
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
RYR1
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: rs146876145
rs146876145
RYR1
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
RYR1
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
RYR1
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
RYR1
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
RYR1
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
RYR1
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
RYR1
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
RYR1
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs763112609
rs763112609
RYR1
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
RYR1
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs146876145
rs146876145
RYR1
0.800 GeneticVariation UNIPROT Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families. 20681998

2011
dbSNP: rs763112609
rs763112609
RYR1
0.800 GeneticVariation UNIPROT Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families. 20681998

2011
dbSNP: rs146876145
rs146876145
RYR1
0.800 GeneticVariation UNIPROT Malignant hyperthermia genetic testing in North America Working Group Meeting. Bethesda, Maryland. September 4-5, 2002. 14870754

2004
dbSNP: rs146876145
rs146876145
RYR1
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: rs146876145
rs146876145
RYR1
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
RYR1
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
RYR1
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
RYR1
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: rs146876145
rs146876145
RYR1
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: rs146876145
rs146876145
RYR1
0.800 GeneticVariation UNIPROT Novel mutations in C-terminal channel region of the ryanodine receptor in malignant hyperthermia patients. 11928716

2002
dbSNP: rs146876145
rs146876145
RYR1
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: rs146876145
rs146876145
RYR1
0.800 GeneticVariation UNIPROT Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia. 12123492

2002
dbSNP: rs763112609
rs763112609
RYR1
0.800 GeneticVariation UNIPROT Novel mutations in C-terminal channel region of the ryanodine receptor in malignant hyperthermia patients. 11928716

2002