ClinVar Miner

Variants in gene RYR1

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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
323 255 1934 1146 299 44 17 384 3540

Condition and significance breakdown #

Total conditions: 65
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
RYR1-Related Disorders 191 57 1103 600 122 0 0 0 2072
not provided 115 130 690 544 85 0 0 378 1709
Malignant hyperthermia, susceptibility to, 1 15 17 360 67 104 0 17 0 546
not specified 0 0 71 361 172 0 0 0 545
Central core myopathy 68 24 272 124 63 0 0 0 542
Minicore myopathy with external ophthalmoplegia 20 9 287 43 86 0 0 0 444
Neuromuscular disease, congenital, with uniform type 1 fiber 3 0 131 140 46 0 0 0 320
Malignant hyperthermia susceptibility 3 7 33 29 0 0 0 1 72
Multiminicore Disease 0 1 36 25 0 0 0 0 62
desflurane response - Toxicity/ADR 0 0 0 0 0 44 0 0 44
enflurane response - Toxicity/ADR 0 0 0 0 0 44 0 0 44
halothane response - Toxicity/ADR 0 0 0 0 0 44 0 0 44
isoflurane response - Toxicity/ADR 0 0 0 0 0 44 0 0 44
methoxyflurane response - Toxicity/ADR 0 0 0 0 0 44 0 0 44
sevoflurane response - Toxicity/ADR 0 0 0 0 0 44 0 0 44
succinylcholine response - Toxicity/ADR 0 0 0 0 0 44 0 0 44
Congenital myopathy with fiber type disproportion 10 7 24 0 0 0 0 0 41
Inborn genetic diseases 4 7 20 0 1 0 0 0 32
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Minicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion 5 1 17 0 0 0 0 1 24
Malignant hypothermia 0 0 11 0 3 0 0 0 14
Malignant hyperthermia 0 3 8 2 0 0 0 0 13
Fetal akinesia sequence; Arthrogryposis multiplex congenita 4 7 0 0 0 0 0 0 11
Congenital myopathy 1 0 4 4 0 0 0 0 9
Myopathy 4 3 2 0 0 0 0 0 9
Central core disease, autosomal recessive 4 0 0 0 0 0 0 0 4
Myopathy, RYR1-associated 0 0 4 0 0 0 0 0 4
volatile anesthetics response - Toxicity/ADR 0 0 0 0 0 4 0 0 4
Central core myopathy; Minicore myopathy with external ophthalmoplegia 2 1 0 0 0 0 0 0 3
Elevated serum creatine phosphokinase; Myalgia; Exercise-induced myalgia 0 0 3 0 0 0 0 0 3
King Denborough syndrome 3 0 0 0 0 0 0 0 3
RYR1-Related Disorder 0 0 0 0 0 0 0 3 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 myopathy; Malignant hyperthermia, susceptibility to, 1 0 1 1 0 0 0 0 0 2
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Minicore myopathy with external ophthalmoplegia 0 0 0 0 0 0 0 2 2
Centronuclear myopathy 0 2 0 0 0 0 0 0 2
Congenital muscular dystrophy; Generalized muscle weakness; EMG: myopathic abnormalities; Developmental dysplasia of the hip 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
Muscle weakness 0 1 1 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
none provided 0 1 1 0 0 0 0 0 2
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 fiber-type disproportion 1 0 0 0 0 0 0 0 1
Congenital myopathy with cores 0 0 1 0 0 0 0 0 1
Elevated serum creatine phosphokinase; Dystonia; Global developmental delay; Abnormality of female external genitalia; Oculomotor apraxia; Orofacial dyskinesia; Abnormality of the globus pallidus; Involuntary movements; Hypoplastic female external genitalia; Rhabdomyolysis 0 0 1 0 0 0 0 0 1
Malignant hyperthermia equivocal with halotane 0 0 1 0 0 0 0 0 1
Malignant hyperthermia susceptibility; Neuromuscular disease 1 0 0 0 0 0 0 0 1
Malignant hyperthermia, susceptibility to, 1; Multiminicore Disease; Centronuclear myopathy; Congenital fiber-type disproportion 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
Muscular dystrophy and arthrogryposis 0 0 1 0 0 0 0 0 1
Muscular hypotonia 0 1 0 0 0 0 0 0 1
Myopathy, progressive axial with cataracts 0 0 0 1 0 0 0 0 1
Neuromuscular disease 0 1 0 0 0 0 0 0 1
Obstructive sleep apnea syndrome; Obesity; Cardiomyopathy; Glaucoma; Muscle weakness; Specific learning disability; Panhypopituitarism; Generalized hypotonia; Gastroesophageal reflux; Limb-girdle muscle weakness 0 0 1 0 0 0 0 0 1
Osteoporosis; Myotonia; Mildly elevated creatine phosphokinase; Limb pain 0 0 1 0 0 0 0 0 1
Ptosis; Sacral agenesis; 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
Tongue tie; Coarctation of aorta; Atrial septal defect; Heart block; Clinodactyly of the 5th finger; Generalized hypotonia; Delayed gross motor development; Bronchomalacia; Sagittal craniosynostosis; Bilateral single transverse palmar creases; Bicoronal synostosis; Ventricular septal defect 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 73
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
Invitae 190 56 1099 718 123 0 0 0 2186
PreventionGenetics, PreventionGenetics 56 61 346 242 164 0 0 0 869
GeneDx 40 38 125 260 167 0 0 0 630
Illumina Clinical Services Laboratory,Illumina 0 3 319 150 86 0 0 0 477
Leiden Muscular Dystrophy (RYR1) 0 0 0 0 0 0 0 378 378
CeGaT Praxis fuer Humangenetik Tuebingen 24 16 155 77 0 0 0 0 272
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 14 6 140 16 83 0 0 0 259
Genetic Services Laboratory, University of Chicago 16 14 49 23 65 0 0 0 167
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 4 0 60 6 8 0 0 0 78
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 5 8 19 1 35 0 0 0 68
GeneReviews 61 0 0 0 4 0 0 0 65
CSER _CC_NCGL, University of Washington 4 1 32 17 0 0 0 0 54
Athena Diagnostics Inc 2 0 22 8 21 0 0 0 53
PharmGKB 0 0 0 0 0 44 0 0 44
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 13 26 0 0 0 0 0 41
OMIM 28 0 0 0 0 0 17 0 39
Baylor Genetics 6 3 30 0 0 0 0 0 39
Ambry Genetics 4 7 20 0 1 0 0 0 32
Mendelics 2 6 4 0 17 0 0 0 29
Fulgent Genetics,Fulgent Genetics 5 1 17 0 0 0 0 0 23
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 4 5 13 0 0 0 0 0 22
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 21 0 0 0 0 0 21
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 14 1 0 0 0 0 19
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 12 0 3 0 0 0 15
Institute of Human Genetics, University of Leipzig Medical Center 4 0 9 1 1 0 0 0 15
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
Broad Institute Rare Disease Group, Broad Institute 2 4 5 0 0 0 0 0 11
Integrated Genetics/Laboratory Corporation of America 1 1 6 1 0 0 0 0 9
Pediatric Department, Peking University First Hospital 3 6 0 0 0 0 0 0 9
GenomeConnect, ClinGen 0 0 0 0 0 0 0 8 8
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 7 0 0 0 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 2 1 0 0 0 0 0 6
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 5 0 0 0 0 0 6
Institute of Human Genetics, Klinikum rechts der Isar 4 1 0 0 0 0 0 0 5
Center for Genetic Medicine Research,Children's National Medical Center 0 4 1 0 0 0 0 0 5
Institute of Human Genetics,University of Wuerzburg 0 2 3 0 0 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 2 0 0 0 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 2 2 0 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 0 0 0 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 3 0 0 0 0 0 0 4
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
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 3 0 0 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 2 1 0 0 0 0 0 0 3
Stanford Center for Inherited Cardiovascular Disease, Stanford University 1 0 1 0 0 0 0 0 2
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 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
Center for Reproductive Medicine, Peking University Third Hospital 1 1 0 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 1 0 0 0 0 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 0 0 1
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 1 0 0 0 0 0 0 1
Lineagen, Inc 1 0 0 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 0 1 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
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 1 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
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 0 0 1
HSP Biomedical Diagnostics Department,Hospital San Pedro 0 1 0 0 0 0 0 0 1
Gharavi Laboratory,Columbia University 1 0 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 0 0 1
Division of Medical Genetics, University of Washington 1 0 0 0 0 0 0 0 1

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