ClinVar Miner

Variants in gene DES

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Minimum submission review status: Collection method:
Minimum conflict level:
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 not provided total
64 39 333 128 45 55 536

Condition and significance breakdown #

Total conditions: 30
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 34 7 233 67 13 0 354
not provided 22 18 115 25 8 55 212
not specified 0 0 31 53 25 0 98
Myofibrillar myopathy 1 24 9 27 11 12 0 81
Dilated cardiomyopathy 1I 3 0 26 13 6 0 47
Neurogenic scapuloperoneal syndrome, Kaeser type 1 0 12 5 25 0 43
Cardiovascular phenotype 0 0 12 12 13 0 37
Myofibrillar Myopathy, Dominant 0 0 4 12 11 0 27
Cardiomyopathy 0 1 10 3 9 0 23
Primary dilated cardiomyopathy 2 2 3 0 1 0 8
none provided 0 0 1 2 5 0 8
Myofibrillar myopathy 4 0 1 0 0 0 5
Arrhythmogenic right ventricular cardiomyopathy 0 3 1 0 0 0 4
Dilated Cardiomyopathy, Dominant 0 0 1 1 1 0 3
Dilated cardiomyopathy 1S 2 1 0 0 0 0 3
Primary dilated cardiomyopathy; Neuromuscular disease 0 3 0 0 0 0 3
Primary familial hypertrophic cardiomyopathy 0 1 2 0 0 0 3
Scapuloperoneal weakness 0 0 1 1 1 0 3
Aganglionic megacolon 0 0 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia 9 0 0 1 0 0 0 1
Cardiomyopathy, left ventricular noncompaction 0 0 1 0 0 0 1
Congenital diaphragmatic hernia 0 0 1 0 0 0 1
Dilated cardiomyopathy 1A 0 0 1 0 0 0 1
Dilated cardiomyopathy 1I; Myofibrillar myopathy 1; Neurogenic scapuloperoneal syndrome, Kaeser type 0 0 1 0 0 0 1
Dilated cardiomyopathy 1I; Myofibrillar myopathy 1; Neurogenic scapuloperoneal syndrome, Kaeser type; Muscular dystrophy, limb-girdle, type 2R 0 0 1 0 0 0 1
Muscular dystrophy, limb-girdle, type 2R 0 0 1 0 0 0 1
Myopathy; Respiratory distress; Proximal muscle weakness; Pulmonary alveolar proteinosis; Generalized hypotonia; Neonatal hypotonia; Restrictive ventilatory defect; Neonatal respiratory distress; Respiratory insufficiency due to muscle weakness; Skeletal myopathy; Interstitial pulmonary abnormality; Congenital peripheral neuropathy; Proximal muscle weakness in upper limbs; Infantile axial hypotonia 0 0 1 0 0 0 1
Primary dilated cardiomyopathy; Myofibrillar myopathy 1 1 0 0 0 0 0 1
Primary dilated cardiomyopathy; Myofibrillar myopathy 1; Neuromuscular disease 0 1 0 0 0 0 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 34 8 233 77 13 0 364
GeneDx 7 12 51 34 11 0 115
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 15 4 70 2 14 0 105
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 7 25 16 20 0 71
Epithelial Biology; Institute of Medical Biology, Singapore 0 0 0 0 0 54 54
Illumina Clinical Services Laboratory,Illumina 0 0 25 19 26 0 44
Ambry Genetics 0 0 12 12 13 0 37
Athena Diagnostics Inc 2 1 11 3 11 0 28
OMIM 21 0 0 0 0 0 21
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 9 3 7 0 19
PreventionGenetics, PreventionGenetics 0 0 0 1 15 0 16
Genetic Services Laboratory, University of Chicago 0 1 2 5 6 0 14
Integrated Genetics/Laboratory Corporation of America 0 0 4 2 7 0 13
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 3 2 6 0 11
Blueprint Genetics 1 3 7 0 0 0 11
CeGaT Praxis fuer Humangenetik Tuebingen 3 1 5 2 0 0 11
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 4 0 2 0 6
Wellcome Centre for Mitochondrial Research,Newcastle University 4 0 1 0 0 0 5
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 1 3 0 0 0 5
Baylor Genetics 1 0 3 0 0 0 4
Mendelics 2 0 1 0 1 0 4
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 4 0 0 0 4
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 2 1 1 0 0 0 4
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 2 0 1 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Center for Genetic Medicine Research,Children's National Medical Center 0 2 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 0 1 1 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 2
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 2 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 0 0 0 1
Center for Human Genetics,University of Leuven 1 0 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Genetics and Genomics Program,Sidra Medicine 0 0 1 0 0 0 1

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