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
207 174 1084 620 209 44 17 383 2128

Condition and significance breakdown #

Total conditions: 57
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
not provided 96 118 593 246 0 0 0 378 1272
RYR1-Related Disorders 62 20 366 196 109 0 0 0 753
not specified 0 0 70 361 172 0 0 0 544
Myopathy, Central Core 71 21 140 140 49 0 0 0 413
Malignant hyperthermia susceptibility 2 5 130 144 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 0 134 139 46 0 0 0 319
Malignant hyperthermia, susceptibility to, 1 12 5 81 12 8 0 17 0 126
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 18 1 5 0 0 0 0 0 24
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
Congenital myopathy 0 0 4 4 0 0 0 0 8
Muscular Diseases 4 3 0 0 0 0 0 0 7
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
Myopathy, RYR1-associated 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
Central core disease, autosomal recessive 2 0 0 0 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; Skeletal muscle 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, 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
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
Skeletal muscle disease 0 1 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: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
PreventionGenetics 56 62 345 242 164 0 0 0 869
Invitae 61 20 363 196 109 0 0 0 749
GeneDx 36 35 125 200 88 0 0 0 484
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
Genetic Services Laboratory, University of Chicago 15 15 49 23 65 0 0 0 167
Biesecker Lab/Human Development Section,National Institutes of Health 4 0 60 6 8 0 0 0 78
CeGaT Praxis fuer Humangenetik Tuebingen 0 6 57 4 0 0 0 0 67
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 4 6 19 1 35 0 0 0 65
GeneReviews 61 0 0 0 4 0 0 0 65
CSER_CC_NCGL; University of Washington Medical Center 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 13 4 8 0 0 0 27
Fulgent Genetics 5 1 17 0 0 0 0 0 23
Ambry Genetics 3 5 13 0 0 0 0 0 21
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
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 0 11 1 0 0 0 0 14
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 1 6 2 0 0 0 0 11
Baylor Miraca Genetics Laboratories, 4 0 2 0 0 0 0 0 6
Integrated Genetics/Laboratory Corporation of America 0 0 5 1 0 0 0 0 6
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
GenomeConnect, ClinGen 0 0 0 0 0 0 0 5 5
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 3 1 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
Institute of Human Genetics,University of Wuerzburg 0 2 1 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
Broad Institute Rare Disease Group,Broad Institute 0 3 0 0 0 0 0 0 3
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 2 0 0 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 1 0 0 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 0 0 0 2
Stanford Center for Inherited Cardiovascular Disease,Stanford University 1 0 1 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology 2 0 0 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
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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