ClinVar Miner

Variants in gene RYR1

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Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
617 678 4966 4302 457 38 17 388 9800

Condition and significance breakdown #

Total conditions: 75
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
RYR1-related disorder 486 258 2388 3604 206 0 0 9 6875
Malignant hyperthermia, susceptibility to, 1 43 78 2609 1021 148 0 14 0 3748
not provided 163 261 1553 580 303 0 0 364 2766
not specified 1 0 221 339 171 0 0 0 684
Central core myopathy 85 75 335 116 69 0 4 0 664
Congenital multicore myopathy with external ophthalmoplegia 40 46 294 39 91 0 0 0 506
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 9 26 376 34 21 0 0 0 466
Inborn genetic diseases 8 15 312 13 2 0 0 0 350
Neuromuscular disease, congenital, with uniform type 1 fiber 2 0 127 132 44 0 0 0 305
Malignant hyperthermia of anesthesia 20 33 138 36 1 0 0 1 222
RYR1-related myopathy 19 29 41 3 4 0 0 0 94
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome 16 29 39 0 0 0 0 1 85
Multiminicore myopathy 0 1 36 24 0 0 0 0 61
Congenital myopathy with fiber type disproportion 4 6 21 0 0 0 0 8 39
King Denborough syndrome 6 6 2 0 25 0 0 0 39
desflurane response - Toxicity 0 0 0 0 0 38 0 0 38
enflurane response - Toxicity 0 0 0 0 0 38 0 0 38
halothane response - Toxicity 0 0 0 0 0 38 0 0 38
isoflurane response - Toxicity 0 0 0 0 0 38 0 0 38
methoxyflurane response - Toxicity 0 0 0 0 0 38 0 0 38
sevoflurane response - Toxicity 0 0 0 0 0 38 0 0 38
succinylcholine response - Toxicity 0 0 0 0 0 38 0 0 38
Centronuclear myopathy 9 21 4 0 0 0 0 0 34
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion 3 1 13 0 0 0 0 1 18
Malignant hypothermia 0 0 11 0 2 0 0 0 13
Fetal akinesia deformation sequence 1; Arthrogryposis multiplex congenita 4 7 0 0 0 0 0 0 11
See cases 1 3 6 1 0 0 0 0 11
Congenital myopathy 1 1 4 4 0 0 0 0 10
Myopathy, RYR1-associated 4 2 4 0 0 0 0 0 10
Abnormality of the musculature 3 5 0 0 0 0 0 0 8
Myopathy 4 2 2 0 0 0 0 0 8
Central core myopathy; Congenital multicore myopathy with external ophthalmoplegia 2 3 1 0 0 0 0 0 6
Central core myopathy; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome 2 2 2 0 0 0 0 0 6
Central core myopathy; Malignant hyperthermia, susceptibility to, 1 1 2 2 0 0 0 0 0 5
Long QT syndrome 0 0 4 0 0 0 0 0 4
Neuromuscular disease 0 3 1 0 0 0 0 0 4
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia 0 0 0 0 0 0 0 3 3
Elevated circulating creatine kinase concentration; Myalgia; Exercise-induced myalgia 0 0 3 0 0 0 0 0 3
Arthrogryposis multiplex congenita 1 1 0 0 0 0 0 0 2
Axial myopathy, late-onset 0 0 1 1 0 0 0 0 2
Central core disease, autosomal recessive 2 0 0 0 0 0 0 0 2
Central core myopathy; King Denborough syndrome 0 1 1 0 0 0 0 0 2
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy 0 0 0 0 0 0 0 2 2
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Myopathy, RYR1-associated 0 0 0 0 0 0 0 2 2
Congenital muscular dystrophy; Generalized muscle weakness; EMG: myopathic abnormalities; Congenital hip dislocation 0 0 2 0 0 0 0 0 2
Congenital muscular dystrophy; Myopathy; Respiratory insufficiency 0 2 0 0 0 0 0 0 2
Congenital myasthenic syndrome 0 0 2 0 0 0 0 0 2
Distal arthrogryposis 0 2 0 0 0 0 0 0 2
Hydrops fetalis 1 1 0 0 0 0 0 0 2
Malignant hyperthermia and exertional rhabdomyolosis 0 0 1 1 0 0 0 0 2
Malignant hyperthermia, susceptibility to 2 0 0 0 0 0 0 0 2
Scoliosis; Proximal muscle weakness; Delayed gross motor development; Pelvic girdle muscle weakness; Progressive distal muscle weakness 0 1 1 0 0 0 0 0 2
Anterior segment dysgenesis 7 0 0 1 0 0 0 0 0 1
Arrhythmogenic right ventricular cardiomyopathy 0 1 0 0 0 0 0 0 1
Autism spectrum disorder due to AUTS2 deficiency 1 0 0 0 0 0 0 0 1
Central core myopathy; Congenital multicore myopathy with external ophthalmoplegia; Autosomal dominant centronuclear myopathy 0 0 0 0 0 0 0 1 1
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Central core disease, autosomal recessive; Centronuclear myopathy 0 0 0 0 0 0 0 1 1
Central core myopathy; Neuromuscular disease 1 0 0 0 0 0 0 0 1
Clubfoot; EMG abnormality; Lower limb amyotrophy 1 0 0 0 0 0 0 0 1
Congenital myasthenic syndrome 12 0 0 1 0 0 0 0 0 1
Congenital myopathy with cores 0 0 1 0 0 0 0 0 1
Hypotonia 0 1 0 0 0 0 0 0 1
Lynch syndrome 5 0 1 0 0 0 0 0 0 1
Malignant hyperthermia equivocal with halotane 0 0 1 0 0 0 0 0 1
Malignant hyperthermia of anesthesia; Neuromuscular disease 1 0 0 0 0 0 0 0 1
Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Centronuclear myopathy 0 0 0 0 0 0 0 1 1
Multi-minicore disease and atypical periodic paralysis 0 0 0 1 0 0 0 0 1
Multiminicore/minicore/multicore disease 0 0 0 1 0 0 0 0 1
Muscle tissue disorder 0 0 0 1 0 0 0 0 1
Muscular dystrophy and arthrogryposis 0 0 1 0 0 0 0 0 1
Myopathy, progressive axial with cataracts 0 0 0 1 0 0 0 0 1
Osteoporosis; Myotonia; Mildly elevated creatine kinase; Limb pain 0 0 1 0 0 0 0 0 1
Ptosis; Absence of the sacrum; History of neonatal hypotonia 0 1 0 0 0 0 0 0 1
Rhabdomyolysis 0 1 0 0 0 0 0 0 1
Short stature; Delayed gross motor development; Congenital contracture; Proximal amyotrophy 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 150
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 485 230 2319 3569 203 0 0 0 6806
All of Us Research Program, National Institutes of Health 16 21 2229 911 49 0 0 0 3226
GeneDx 85 139 650 418 318 0 0 0 1610
PreventionGenetics, part of Exact Sciences 62 79 430 391 159 0 0 0 1121
Revvity Omics, Revvity 54 34 627 6 0 0 0 0 721
Fulgent Genetics, Fulgent Genetics 24 50 397 34 21 0 0 0 526
CeGaT Center for Human Genetics Tuebingen 34 26 191 202 15 0 0 0 468
Illumina Laboratory Services, Illumina 1 6 313 141 82 0 0 0 466
Color Diagnostics, LLC DBA Color Health 11 13 112 139 112 0 0 0 387
RYR1 database 0 0 0 0 0 0 0 364 364
Ambry Genetics 8 15 312 13 2 0 0 0 350
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 29 55 212 15 16 0 0 0 327
Breakthrough Genomics, Breakthrough Genomics 0 1 10 100 140 0 0 0 251
Eurofins Ntd Llc (ga) 14 6 136 15 78 0 0 0 249
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 21 14 155 54 2 0 0 0 246
Genetic Services Laboratory, University of Chicago 16 14 50 25 62 0 0 0 167
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 15 26 21 2 33 0 0 0 97
Athena Diagnostics 4 5 46 8 28 0 0 0 91
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 3 14 10 55 0 0 0 85
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 4 0 58 5 7 0 0 0 74
Mayo Clinic Laboratories, Mayo Clinic 2 2 65 0 0 0 0 0 69
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 10 5 16 14 18 0 0 0 63
GeneReviews 53 0 0 0 3 0 0 8 63
CSER _CC_NCGL, University of Washington 4 1 31 17 0 0 0 0 53
Baylor Genetics 8 6 38 0 0 0 0 0 52
Department of Pathology and Laboratory Medicine, Sinai Health System 3 4 41 0 0 0 0 0 48
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 6 36 4 0 0 0 46
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 18 4 23 0 0 0 0 0 45
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 10 29 4 0 0 0 0 0 42
OMIM 27 0 0 0 0 0 17 0 41
PharmGKB 0 0 0 0 0 38 0 0 38
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 12 23 0 0 0 0 0 37
Institute of Human Genetics, University of Leipzig Medical Center 8 13 14 1 1 0 0 0 37
Neuberg Centre For Genomic Medicine, NCGM 6 4 27 0 0 0 0 0 37
Molecular Genetics, Royal Melbourne Hospital 9 1 26 1 0 0 0 0 37
MGZ Medical Genetics Center 6 8 19 0 0 0 0 0 33
Clinical Genetics, Academic Medical Center 0 0 0 3 30 0 0 0 33
Mendelics 3 5 12 0 13 0 0 0 33
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 6 13 13 0 0 0 0 0 32
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 3 13 16 0 0 0 0 0 32
3billion 5 12 11 1 0 0 0 0 29
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 3 4 9 9 0 0 0 27
Genome-Nilou Lab 0 0 0 0 25 0 0 0 25
ClinGen Congenital Myopathies Variant Curation Expert Panel, ClinGen 7 3 8 3 4 0 0 0 25
Pediatric Department, Peking University First Hospital 4 16 3 0 0 0 0 0 23
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 9 12 2 0 0 0 23
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 6 11 0 0 0 0 0 22
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 15 1 0 0 0 0 20
Kariminejad - Najmabadi Pathology & Genetics Center 3 11 5 0 0 0 0 0 19
Juno Genomics, Hangzhou Juno Genomics, Inc 3 9 6 0 0 0 0 0 18
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 9 4 0 0 0 0 0 18
AiLife Diagnostics, AiLife Diagnostics 5 9 3 0 0 0 0 0 17
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 12 0 2 0 0 0 14
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 10 4 0 0 0 0 0 0 14
GenomeConnect, ClinGen 0 0 0 0 0 0 0 13 13
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 9 3 0 0 0 0 0 0 12
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 3 7 1 0 0 0 0 12
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 2 3 0 0 0 0 0 11
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 2 1 6 2 0 0 0 0 11
Cirak Lab, University Hospital Cologne 4 7 0 0 0 0 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 1 7 0 0 0 10
Institute of Human Genetics, University of Wuerzburg 0 3 6 0 0 0 0 0 9
Genetics and Molecular Pathology, SA Pathology 3 1 5 0 0 0 0 0 9
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 9 9
Clinical Genetics and Genomics, Karolinska University Hospital 0 8 0 0 0 0 0 0 8
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 0 6 0 0 0 0 0 8
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 6 0 1 0 0 0 0 0 7
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 2 4 0 0 0 0 0 7
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 5 0 0 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 2 0 0 0 0 0 0 6
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 1 3 1 0 0 0 0 6
Clinical Genetics Laboratory, Skane University Hospital Lund 2 1 3 0 0 0 0 0 6
MVZ Medizinische Genetik Mainz 0 0 6 0 0 0 0 0 6
Center for Genetic Medicine Research, Children's National Medical Center 0 4 1 0 0 0 0 0 5
Undiagnosed Diseases Network, NIH 0 2 3 0 0 0 0 0 5
deCODE genetics, Amgen 1 4 0 0 0 0 0 0 5
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 2 3 0 0 0 0 0 5
Institute of Human Genetics, University of Goettingen 0 2 2 0 0 0 0 0 4
Center for Personalized Medicine, Children's Hospital Los Angeles 1 1 2 0 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 3 0 0 0 0 0 0 4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 2 1 0 0 0 0 0 4
Arcensus 0 2 2 0 0 0 0 0 4
Dept of Medical Biology, Uskudar University 0 0 4 0 0 0 0 0 4
Solve-RD Consortium 0 4 0 0 0 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 1 0 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 1 0 2 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 1 0 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 2 0 0 0 0 0 0 3
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 0 0 3 0 0 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 0 2 1 0 0 0 0 0 3
New York Genome Center 0 1 2 0 0 0 0 0 3
Suma Genomics 1 1 1 0 0 0 0 0 3
Department of Pathophysiology and Transplantation, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico 3 0 0 0 0 0 0 0 3
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 3 0 0 0 0 0 0 0 3
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 2 0 1 0 0 0 0 0 3
Human Genetics Bochum, Ruhr University Bochum 0 2 1 0 0 0 0 0 3
Department of Human Genetics, Hannover Medical School 1 0 2 0 0 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 2 0 1 0 0 0 0 0 3
Genetics Department, Hospital De La Santa Creu I Sant Pau 0 3 0 0 0 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 1 0 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 2 0 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 0 0 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 1 0 0 0 0 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 2 0 0 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 1 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 1 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 0 0 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 0 2 0 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 0 1 0 0 0 0 0 2
Genetic Diseases Diagnostic Center, Koc University Hospital 0 2 0 0 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 1 0 0 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 0 0 0 0 0 0 0 2
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 1 0 1 0 0 0 0 0 2
Center for Reproductive Medicine, Peking University Third Hospital 1 1 0 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 0 2 0 0 0 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 2 0 0 0 0 0 0 2
DASA 1 1 0 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 1 0 0 0 0 0 2
Laan Lab, Human Genetics Research Group, University of Tartu 2 0 0 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 0 0 1
Institute of Human Genetics, Medical University Innsbruck 0 1 0 0 0 0 0 0 1
Bionano Laboratories 1 0 0 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 1 0 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 1 0 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 0 0 1
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 1 0 0 0 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 0 0 1
Gharavi Laboratory, Columbia University 1 0 0 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 0 0 1
Division of Medical Genetics, University of Washington 1 0 0 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 0 1 0 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 1 0 0 0 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Exon Genomics 1 0 0 0 0 0 0 0 1
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill 0 1 0 0 0 0 0 0 1

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