ClinVar Miner

Variants in gene DYSF

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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
296 196 925 569 184 3 1792

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Qualitative or quantitative defects of dysferlin 152 49 545 406 75 1 1132
not provided 177 34 463 121 105 0 862
Autosomal recessive limb-girdle muscular dystrophy type 2B 81 92 199 64 38 0 455
not specified 0 0 23 137 79 0 191
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 7 43 4 0 1 1 56
Miyoshi muscular dystrophy 1 16 3 11 2 0 0 32
Myopathy, distal, with anterior tibial onset 3 1 2 0 0 0 6
DYSF-Related Disorders 1 0 3 0 0 0 4
Inborn genetic diseases 0 0 2 0 1 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
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
none provided 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 152 45 386 417 63 0 1063
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 155 11 430 17 61 0 674
GeneDx 26 6 34 120 138 0 324
Natera, Inc. 17 1 134 49 37 0 238
Illumina Clinical Services Laboratory,Illumina 3 1 195 25 12 0 229
Counsyl 41 66 57 15 0 0 179
Athena Diagnostics Inc 23 8 42 23 22 0 118
PreventionGenetics, PreventionGenetics 0 0 0 24 51 0 75
CeGaT Praxis fuer Humangenetik Tuebingen 9 8 29 9 0 0 55
Myriad Women's Health, Inc. 1 39 0 0 0 0 40
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
Baylor Genetics 4 1 7 0 0 0 12
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 3 3 1 0 0 0 7
GeniaGeo, Laboratorio Genia 4 2 0 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 3 0 0 0 5
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
Nilou-Genome Lab 0 0 2 2 0 0 4
Ambry Genetics 0 0 2 0 1 0 3
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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 2 0 0 0 0 2
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 2 0 0 0 0 0 2
Pars Genome Lab 0 0 2 0 0 0 2
Claritas Genomics 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Sema4,Sema4 0 1 0 0 0 0 1
Mayo Clinic 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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 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
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 1 0 0 0 0 0 1
Tan Tock Seng Hospital,National Healthcare Group 1 0 0 0 0 0 1

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