ClinVar Miner

Variants in gene DYSF

See also:
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
258 136 782 390 181 3 1436

Condition and significance breakdown #

Total conditions: 19
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 177 30 459 115 105 0 855
Qualitative or quantitative defects of dysferlin 86 24 409 200 75 1 704
Autosomal recessive limb-girdle muscular dystrophy type 2B 76 91 69 17 2 0 245
not specified 0 0 26 137 78 0 192
Limb-Girdle Muscular Dystrophy, Recessive 0 0 83 15 5 0 103
Miyoshi myopathy 0 0 83 15 5 0 103
Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Myopathy, distal, with anterior tibial onset 6 4 4 0 1 1 16
Miyoshi muscular dystrophy 1 12 3 0 0 0 0 15
DYSF-Related Disorders 1 0 3 0 0 0 4
Myopathy, distal, with anterior tibial onset 3 0 0 0 0 0 3
Muscular dystrophy 0 1 1 0 0 0 2
DYSF- Related Disorder 0 0 0 0 0 1 1
Distal lower limb muscle weakness 0 1 0 0 0 0 1
Foot dorsiflexor weakness; Peroneal muscle atrophy; Distal lower limb muscle weakness; Absent muscle fiber dysferlin 1 0 0 0 0 0 1
Inborn genetic diseases 0 0 0 0 1 0 1
Muscle weakness; Arthralgia; Myalgia; EMG: myopathic abnormalities 0 0 1 0 0 0 1
Myopathy 0 0 1 0 0 0 1
Peripheral neuropathy 0 0 1 0 0 0 1
Proximal muscle weakness 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 155 11 430 17 61 0 674
Invitae 85 22 247 238 63 0 655
GeneDx 26 6 34 120 138 0 324
Illumina Clinical Services Laboratory,Illumina 3 1 195 25 12 0 229
Counsyl 42 66 57 15 0 0 180
Athena Diagnostics Inc 22 5 39 17 20 0 103
PreventionGenetics,PreventionGenetics 0 0 0 24 51 0 75
CeGaT Praxis fuer Humangenetik Tuebingen 8 7 26 8 0 0 49
Genetic Services Laboratory, University of Chicago 1 0 4 29 0 0 34
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 2 0 22 0 25
Broad Institute Rare Disease Group,Broad Institute 4 10 10 0 0 0 24
OMIM 22 0 0 0 0 0 22
Department of Neurology, Guangzhou First People’s Hospital,School of Medicine, South China University of Technology 13 0 0 0 0 0 13
Fulgent Genetics,Fulgent Genetics 5 3 3 0 0 0 11
Mendelics 0 0 3 2 2 0 7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 3 1 0 0 0 6
GeniaGeo, Laboratorio Genia 4 2 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 2 0 0 0 4
Institute of Human Genetics,University of Wuerzburg 1 1 2 0 0 0 4
Genetic Diseases Diagnostic Center,Koc University Hospital 0 4 0 0 0 0 4
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 2 2 0 0 0 0 4
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 3 0 0 0 0 3
Center for Genetic Medicine Research,Children's National Medical Center 0 3 0 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 1 1 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 3 0 0 0 0 0 3
Belal Azab Laboratory,The University of Jordan 3 0 0 0 0 0 3
Blueprint Genetics 0 0 2 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 2
Claritas Genomics 0 0 1 0 0 0 1
Ambry Genetics 0 0 0 0 1 0 1
Sema4, Sema4 0 1 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 0 0 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Genetic Research,Kawsar Human Genetics Research Center 1 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 1
Tan Tock Seng Hospital,National Healthcare Group 1 0 0 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.