ClinVar Miner

Variants in gene SYNE1

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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
107 69 2097 860 601 2 3065

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 49 41 1253 343 333 0 1878
Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 29 8 856 308 124 0 1325
Spinocerebellar ataxia, autosomal recessive 8 35 12 394 55 108 2 601
not specified 0 0 129 350 198 0 561
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 6 3 170 66 323 0 560
Cerebellar ataxia 0 0 8 4 1 0 13
Emery-Dreifuss muscular dystrophy 0 0 8 4 1 0 13
Intellectual disability 0 0 5 8 0 0 13
Arthrogryposis multiplex congenita 3, myogenic type 2 0 8 1 0 0 11
none provided 0 0 4 3 1 0 8
SYNE1-Related Disorders 0 1 6 0 0 0 7
Inborn genetic diseases 2 0 3 0 0 0 5
Abnormality of brain morphology 0 2 0 0 0 0 2
Juvenile amyotrophic lateral sclerosis 2 0 0 0 0 0 2
Autosomal recessive cerebellar ataxia 0 1 0 0 0 0 1
Autosomal recessive myogenic arthrogryposis multiplex congenita 0 0 1 0 0 0 1
Cardiomyopathy 0 0 1 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
Neurodevelopmental abnormality 0 0 0 1 0 0 1
Primary dilated cardiomyopathy 0 0 1 0 0 0 1
Rare genetic intellectual disability 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1
Spinocerebellar ataxia, autosomal recessive 8; Cerebellar ataxia 0 1 0 0 0 0 1
Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Arthrogryposis multiplex congenita 3, myogenic type 0 1 0 0 0 0 1
Tremor 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 52
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 28 8 852 437 134 0 1459
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 25 4 1004 63 60 0 1156
GeneDx 7 13 81 308 319 0 728
Athena Diagnostics Inc 16 14 324 102 164 0 620
Illumina Clinical Services Laboratory,Illumina 0 1 382 120 324 0 549
CeGaT Praxis fuer Humangenetik Tuebingen 2 10 84 22 0 0 118
PreventionGenetics, PreventionGenetics 0 0 0 35 72 0 107
Genetic Services Laboratory, University of Chicago 8 1 15 70 2 0 96
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 28 17 7 0 53
Baylor Genetics 0 1 36 0 0 0 37
Genomic Research Center, Shahid Beheshti University of Medical Sciences 6 1 13 0 0 0 20
OMIM 14 0 4 0 0 0 18
Fulgent Genetics,Fulgent Genetics 1 0 12 0 0 0 13
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 3 8 0 0 11
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 9 1 0 0 11
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 7 0 0 0 10
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 2 0 0 0 5 0 7
Mendelics 0 0 3 1 2 0 6
Ambry Genetics 2 0 3 0 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 4 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 1 1 0 5
Laboratory for Molecular Medicine,Partners HealthCare 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
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 3 1 0 0 0 4
Integrated Genetics/Laboratory Corporation of America 0 1 2 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 3 0 0 0 0 0 3
UCLA Clinical Genomics Center, UCLA 0 3 0 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 1 1 0 2
Blueprint Genetics 0 0 1 1 0 0 2
Service de Génétique Moléculaire,Hôpital Robert Debré 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 1 0 0 0 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 1 0 0 0 1
Institute of Experimental Medicine, Department of Genetics,Istanbul University 1 0 0 0 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 1 0 0 0 1
McDonnell Genome Institute,Washington University in St. Louis 0 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 1
Codex Genetics Limited 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 0 1
Pediatric Oncology, Johns Hopkins University 0 0 1 0 0 0 1
Fundacion Diagnosis 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
School of Computer Science,University of Waterloo 1 0 0 0 0 0 1

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