Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118192177
rs118192177
T 0.720 CausalMutation CLINVAR Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065

2015

dbSNP: rs118192177
rs118192177
T 0.720 CausalMutation CLINVAR Genotype-phenotype correlations in recessive RYR1-related myopathies. 23919265

2013

dbSNP: rs118192177
rs118192177
T 0.720 CausalMutation CLINVAR Mild clinical and histopathological features in patients who carry the frequent and causative malignant hyperthermia RyR1 mutation p.Thr2206Met. 19919814

2010

dbSNP: rs118192177
rs118192177
T 0.720 CausalMutation CLINVAR Genetic variation in RYR1 and malignant hyperthermia phenotypes. 19648156

2009

dbSNP: rs118192177
rs118192177
T 0.720 CausalMutation CLINVAR Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation. 12220451

2002

dbSNP: rs118192177
rs118192177
T 0.720 CausalMutation CLINVAR North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations. 11575529

2001

dbSNP: rs118192177
rs118192177
T 0.720 CausalMutation CLINVAR Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test. 10484775

1999

dbSNP: rs118192177
rs118192177
T 0.720 CausalMutation CLINVAR Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. 9497245

1998

dbSNP: rs146876145
rs146876145
T 0.700 GeneticVariation CLINVAR Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort. 25957634

2015

dbSNP: rs146876145
rs146876145
T 0.700 GeneticVariation CLINVAR Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 25637381

2015

dbSNP: rs193922764
rs193922764
T 0.700 GeneticVariation CLINVAR Analysis of the entire ryanodine receptor type 1 and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) coding regions for variants associated with malignant hyperthermia in Australian families. 25735680

2015

dbSNP: rs193922764
rs193922764
T 0.700 GeneticVariation CLINVAR Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study. 24433488

2014

dbSNP: rs146876145
rs146876145
T 0.700 GeneticVariation CLINVAR Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. 23558838

2013

dbSNP: rs193922764
rs193922764
T 0.700 GeneticVariation CLINVAR Skeletal muscle ryanodine receptor mutations associated with malignant hyperthermia showed enhanced intensity and sensitivity to triggering drugs when expressed in human embryonic kidney cells. 23459219

2013

dbSNP: rs193922764
rs193922764
T 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in recessive RYR1-related myopathies. 23919265

2013

dbSNP: rs193922839
rs193922839
A 0.700 CausalMutation CLINVAR RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling. 23553787

2013

dbSNP: rs193922839
rs193922839
A 0.700 CausalMutation CLINVAR Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. 22473935

2012

dbSNP: rs193922839
rs193922839
A 0.700 CausalMutation CLINVAR A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families. 19645060

2009

dbSNP: rs193922764
rs193922764
T 0.700 GeneticVariation CLINVAR Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots. 18564801

2008

dbSNP: rs193922839
rs193922839
A 0.700 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

dbSNP: rs193922839
rs193922839
A 0.700 CausalMutation CLINVAR Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. 17483490

2007

dbSNP: rs146876145
rs146876145
T 0.700 GeneticVariation CLINVAR Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. 16163667

2005

dbSNP: rs193922764
rs193922764
T 0.700 GeneticVariation CLINVAR Adult onset multi/minicore myopathy associated with a mutation in the RYR1 gene. 14999498

2004

dbSNP: rs146876145
rs146876145
T 0.700 GeneticVariation CLINVAR 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
T 0.700 GeneticVariation CLINVAR Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility. 12411788

2002