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
238 205 1262 941 298 44 17 383 2689

Condition and significance breakdown #

Total conditions: 59
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
not provided 100 124 651 699 185 0 0 378 1848
RYR1-Related Disorders 93 32 538 56 18 0 0 0 736
not specified 0 0 70 361 172 0 0 0 544
Myopathy, Central Core 67 21 142 140 49 0 0 0 412
Malignant hyperthermia susceptibility 3 4 130 144 46 0 0 1 327
Neuromuscular disease, congenital, with uniform type 1 fiber 3 0 131 140 47 0 0 0 321
Multiminicore Disease 0 1 134 139 46 0 0 0 320
Malignant hyperthermia, susceptibility to, 1 12 12 84 12 24 0 17 0 141
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
Minicore myopathy 19 2 5 0 0 0 0 0 26
Myopathy, Central Core; Malignant hyperthermia, susceptibility to, 1; Minicore myopathy; Congenital myopathy with fiber type disproportion 5 1 17 0 0 0 0 0 23
Inborn genetic diseases 3 5 13 0 0 0 0 0 21
Malignant hypothermia 0 0 11 0 3 0 0 0 14
Congenital myopathy with fiber type disproportion 8 0 4 0 0 0 0 0 12
Malignant hyperthermia 0 2 8 2 0 0 0 0 12
Fetal akinesia sequence; Arthrogryposis multiplex congenita 4 7 0 0 0 0 0 0 11
Congenital myopathy 0 0 4 4 0 0 0 0 8
Muscular Diseases 4 3 1 0 0 0 0 0 8
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
Elevated serum creatine phosphokinase; Myalgia; Exercise-induced myalgia 0 0 3 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
Congenital muscular dystrophy; Generalized muscle weakness; EMG: myopathic abnormalities; Dysplasia of acetabulum 0 0 2 0 0 0 0 0 2
Congenital muscular dystrophy; Muscular Diseases; 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
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
Myopathy, Central Core; Malignant hyperthermia, susceptibility to, 1 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
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
King Denborough syndrome 1 0 0 0 0 0 0 0 1
Malignant hyperthermia equivocal with halotane 0 0 1 0 0 0 0 0 1
Malignant hyperthermia susceptibility; Neuromuscular Diseases 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, Central Core; Neuromuscular Diseases 1 0 0 0 0 0 0 0 1
Myopathy, congenital with cores 0 0 1 0 0 0 0 0 1
Myopathy, progressive axial with cataracts 0 0 0 1 0 0 0 0 1
Neuromuscular Diseases 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
Talipes equinovarus; EMG abnormality; Lower limb 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: 60
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
Invitae 92 31 533 507 123 0 0 0 1286
PreventionGenetics,PreventionGenetics 56 62 345 242 164 0 0 0 869
GeneDx 40 38 125 260 167 0 0 0 630
Leiden Muscular Dystrophy (RYR1) 0 0 0 0 0 0 0 378 378
Illumina Clinical Services Laboratory,Illumina 0 2 134 145 47 0 0 0 328
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 14 6 140 16 83 0 0 0 259
CeGaT Praxis fuer Humangenetik Tuebingen 0 11 135 39 0 0 0 0 185
Genetic Services Laboratory, University of Chicago 15 15 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 6 19 1 35 0 0 0 66
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
PharmGKB 0 0 0 0 0 44 0 0 44
OMIM 28 0 0 0 0 0 17 0 39
Athena Diagnostics Inc 2 0 16 5 13 0 0 0 36
Mendelics 2 6 4 0 17 0 0 0 29
Fulgent Genetics,Fulgent Genetics 5 1 17 0 0 0 0 0 23
Ambry Genetics 3 5 13 0 0 0 0 0 21
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 15 1 0 0 0 0 18
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 7 9 0 0 0 0 0 18
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 12 0 3 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
Baylor Genetics 4 0 2 0 0 0 0 0 6
Integrated Genetics/Laboratory Corporation of America 0 0 5 1 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
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 5 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
GenomeConnect, ClinGen 0 0 0 0 0 0 0 5 5
Broad Institute Rare Disease Group,Broad Institute 0 3 2 0 0 0 0 0 5
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 3 1 0 0 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 1 0 0 0 0 0 0 4
Institute of Human Genetics,University of Wuerzburg 0 2 2 0 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health: 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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 1 0 0 0 0 0 2
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
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 0 0 1
Institute of Human Genetics,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 Genetic Testing Laboratories,Mayo Clinic 0 0 1 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
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
Gharavi Laboratory,Columbia University 1 0 0 0 0 0 0 0 1

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