ClinVar Miner

Variants in gene SYNE1

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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 not provided total
237 192 3919 2494 771 111 6729

Condition and significance breakdown #

Total conditions: 68
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 121 34 2171 1801 214 0 4341
not provided 92 90 2312 716 470 1 3410
not specified 0 0 196 368 260 0 691
Autosomal recessive ataxia, Beauce type 57 42 409 54 120 2 678
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 10 8 191 63 330 0 595
SYNE1-related disorder 7 7 67 113 34 1 229
Inborn genetic diseases 4 0 102 7 0 0 113
Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Arthrogryposis multiplex congenita 3, myogenic type 5 7 36 22 0 2 72
Arthrogryposis multiplex congenita 3, myogenic type 4 4 14 0 32 0 54
Intellectual disability 0 0 9 8 0 0 17
Ovarian serous cystadenocarcinoma 0 0 0 0 0 17 17
Acute myeloid leukemia 0 0 0 0 0 14 14
Limb-girdle muscular dystrophy 0 0 4 6 0 0 10
Thymoma 0 0 0 0 0 10 10
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 10 10
Lung cancer 0 0 0 0 0 9 9
Malignant tumor of esophagus 0 0 0 0 0 9 9
Sarcoma 0 0 0 0 0 9 9
Familial cancer of breast 0 0 0 0 0 8 8
Uterine corpus endometrial carcinoma 0 0 0 0 0 7 7
Cervical cancer 0 0 0 0 0 6 6
Cholangiocarcinoma 0 0 0 0 0 6 6
Gastric cancer 0 0 0 0 0 6 6
Clear cell carcinoma of kidney 0 0 0 0 0 5 5
Colon adenocarcinoma 0 0 0 0 0 5 5
Familial pancreatic carcinoma 0 0 0 0 0 5 5
Malignant tumor of urinary bladder 0 0 0 0 0 5 5
Nonpapillary renal cell carcinoma 0 0 0 0 0 5 5
Papillary renal cell carcinoma type 1 0 0 0 0 0 5 5
Autosomal recessive ataxia, Beauce type; Arthrogryposis multiplex congenita 3, myogenic type 0 2 0 0 0 2 4
Chronic lymphocytic leukemia/small lymphocytic lymphoma 0 0 0 0 0 4 4
Melanoma 0 0 0 0 0 4 4
Hepatocellular carcinoma 0 0 0 0 0 3 3
See cases 0 1 2 0 0 0 3
Abnormal brain morphology 0 2 0 0 0 0 2
Abnormal central motor function 1 1 0 0 0 0 2
Arthrogryposis syndrome 0 0 2 0 0 0 2
Colorectal cancer 0 0 0 0 0 2 2
Distal myopathy 0 0 2 0 0 0 2
Hereditary ataxia 0 0 0 2 0 0 2
Juvenile amyotrophic lateral sclerosis 2 0 0 0 0 0 2
Ovarian cancer 0 0 0 0 0 2 2
Spastic ataxia 1 0 0 0 1 0 2
Squamous cell carcinoma of the head and neck 0 0 0 0 0 2 2
Uveal melanoma 0 0 0 0 0 2 2
concomitant exotropia 0 2 0 0 0 0 2
Abnormality of the musculature 0 1 0 0 0 0 1
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Autosomal recessive ataxia, Beauce type; Cerebellar ataxia 0 1 0 0 0 0 1
Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Autosomal recessive myogenic arthrogryposis multiplex congenita 0 0 0 0 0 1 1
Autosomal recessive cerebellar ataxia 0 1 0 0 0 0 1
Cardiomyopathy 0 0 1 0 0 0 1
Dilated cardiomyopathy 1A 0 1 0 0 0 0 1
EMG: myopathic abnormalities; Shoulder girdle muscle weakness 0 0 1 0 0 0 1
Ependymoma 0 0 1 0 0 0 1
Hereditary liability to pressure palsies; Autosomal recessive ataxia, Beauce type; Charcot-Marie-Tooth disease type 1E 0 0 0 0 0 1 1
Hereditary skeletal muscle disorder 0 0 0 1 0 0 1
Hereditary spherocytosis type 3 0 0 1 0 0 0 1
Lymphoma 0 0 0 0 0 1 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Mesothelioma 0 0 0 0 0 1 1
Neurodevelopmental abnormality 0 0 0 1 0 0 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 1
Primary dilated cardiomyopathy 0 0 1 0 0 0 1
Rare genetic intellectual disability 0 0 1 0 0 0 1
Skeletal dysplasia 0 0 0 1 0 0 1
Third degree atrioventricular block 0 1 0 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 105
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 121 34 2168 1838 216 0 4377
GeneDx 14 18 457 471 473 0 1433
Eurofins Ntd Llc (ga) 25 3 953 59 59 0 1099
Athena Diagnostics 33 28 651 167 199 0 1078
Revvity Omics, Revvity 19 27 900 27 2 0 975
Illumina Laboratory Services, Illumina 0 1 360 111 314 0 519
CeGaT Center for Human Genetics Tuebingen 11 10 224 213 18 0 476
PreventionGenetics, part of Exact Sciences 4 5 66 140 104 0 319
Mayo Clinic Laboratories, Mayo Clinic 0 5 110 61 114 0 290
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 5 98 49 3 0 164
Breakthrough Genomics, Breakthrough Genomics 0 0 27 115 0 0 142
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 16 49 59 0 125
Ambry Genetics 4 0 102 7 0 0 113
Genetic Services Laboratory, University of Chicago 11 4 23 72 3 0 113
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 101 101
Clinical Genetics, Academic Medical Center 0 0 4 7 52 0 63
Fulgent Genetics, Fulgent Genetics 3 0 33 21 0 0 57
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 29 17 7 0 54
Baylor Genetics 1 3 43 0 0 0 47
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 25 21 0 47
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 11 14 19 0 44
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 2 6 27 0 36
Genome-Nilou Lab 0 0 0 0 30 0 30
Department of Pathology and Laboratory Medicine, Sinai Health System 0 5 21 2 1 0 29
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 4 25 0 0 29
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 12 11 0 0 23
Neuberg Centre For Genomic Medicine, NCGM 0 6 14 0 0 0 20
Genomic Research Center, Shahid Beheshti University of Medical Sciences 6 1 12 0 0 0 19
OMIM 14 0 4 0 0 0 18
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 4 6 2 0 0 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 2 9 1 0 0 14
Kariminejad - Najmabadi Pathology & Genetics Center 3 4 6 0 0 0 13
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 3 7 0 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 7 0 0 0 10
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 7 0 1 0 2 0 10
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 6 3 0 9
Dubai Health Genomic Medicine Center, Dubai Health 0 0 7 1 0 0 8
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 8 0 0 0 0 0 8
Mendelics 1 0 3 1 3 0 8
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 7 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 7 0 0 0 7
Solve-RD Consortium 0 7 0 0 0 0 7
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 2 0 0 0 5 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 0 4 0 0 5
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 3 0 0 0 5
Institute of Human Genetics Munich, TUM University Hospital 4 1 0 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 2 3 0 0 0 0 5
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 3 1 0 0 0 4
Genomics England Pilot Project, Genomics England 2 2 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 0 1 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 2 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 2 1 0 0 0 4
MVZ Medizinische Genetik Mainz 0 1 3 0 0 0 4
3billion 1 0 2 0 0 0 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 3 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 1 0 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 3 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 2 0 3
UCLA Clinical Genomics Center, UCLA 0 3 0 0 0 0 3
Breda Genetics srl, Breda Genetics srl 0 1 1 0 0 0 2
Dasa 0 1 1 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 2 0 0 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 2 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 1 1 0 2
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Next Generation Genetic Polyclinic 0 0 2 0 0 0 2
Ophthalmology Lab, The First People's Hospital of Yunnan Provience 0 2 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 1 0 0 0 2
Undiagnosed Diseases Network, NIH 1 0 1 0 0 0 2
Blueprint Genetics 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Codex Genetics Limited 1 0 0 0 0 0 1
Cytogenetics- Mohapatra Lab, Banaras Hindu University 0 1 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Department of Legal Medicine, University of Toyama 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Fundacion Diagnosis 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 0 1
Institute of Experimental Medicine, Department of Genetics, Istanbul University 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
MVZ Martinsried, Medicover Genetics 1 0 0 0 0 0 1
McDonnell Genome Institute, Washington University in St. Louis 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 1 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
School of Computer Science, University of Waterloo 1 0 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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