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
46 32 190 76 30 54 340

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 20 17 106 0 6 54 176
Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 6 2 84 23 13 0 128
not specified 0 0 32 50 25 0 97
Myofibrillar myopathy 1 24 12 5 12 11 0 62
Cardiovascular phenotype 0 0 13 11 13 0 37
Dilated Cardiomyopathy, Dominant 0 0 4 12 11 0 27
Myofibrillar Myopathy, Dominant 0 0 4 12 11 0 27
Scapuloperoneal weakness 0 0 4 12 11 0 27
Cardiomyopathy 0 1 7 4 4 0 16
Myofibrillar myopathy 5 1 1 0 0 0 7
Primary dilated cardiomyopathy 2 1 1 0 1 0 5
Dilated cardiomyopathy 1I 1 1 2 0 0 0 4
Dilated cardiomyopathy 1S 2 1 0 0 0 0 3
Primary familial hypertrophic cardiomyopathy 0 1 2 0 0 0 3
Arrhythmogenic right ventricular cardiomyopathy 0 1 1 0 0 0 2
Arrhythmogenic right ventricular cardiomyopathy, type 9 0 0 1 0 0 0 1
Congenital diaphragmatic hernia 0 0 1 0 0 0 1
Dilated cardiomyopathy 0 0 1 0 0 0 1
Dilated cardiomyopathy 1I; Dilated cardiomyopathy 1F; Myofibrillar myopathy 1; Scapuloperoneal syndrome, neurogenic, Kaeser type 0 0 1 0 0 0 1
Dilated cardiomyopathy 1I; Dilated cardiomyopathy 1F; Myofibrillar myopathy 1; Scapuloperoneal syndrome, neurogenic, Kaeser type; Muscular dystrophy, limb-girdle, type 2R 0 0 1 0 0 0 1
Left ventricular noncompaction cardiomyopathy 0 0 1 0 0 0 1
Muscular Diseases; 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
Muscular dystrophy, limb-girdle, type 2R 0 0 1 0 0 0 1
Scapuloperoneal syndrome, neurogenic, Kaeser type 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 8 4 84 23 13 0 132
GeneDx 7 12 51 30 8 0 108
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 15 5 70 2 14 0 105
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 7 27 14 20 0 71
Epithelial Biology; Institute of Medical Biology, Singapore 0 0 0 0 0 54 54
Ambry Genetics 0 0 13 11 13 0 37
Illumina Clinical Services Laboratory,Illumina 0 0 4 12 11 0 27
OMIM 20 0 0 0 0 0 20
Athena Diagnostics Inc 1 1 5 3 7 0 17
PreventionGenetics 0 0 0 1 15 0 16
Genetic Services Laboratory, University of Chicago 0 1 2 5 6 0 14
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 6 4 2 0 12
Blueprint Genetics, 1 2 5 0 0 0 8
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 4 0 2 0 6
Integrated Genetics/Laboratory Corporation of America 0 0 2 0 4 0 6
Wellcome Centre for Mitochondrial Research,Newcastle University 4 0 1 0 0 0 5
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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 0 1 0 3
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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 1 0 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
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 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
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 1 0 0 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
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 0 1

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