ClinVar Miner

Variants in gene DYNC1H1

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Gene type:

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
72 186 2469 2876 345 91 5391

Condition and significance breakdown #

Total conditions: 87
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Charcot-Marie-Tooth disease axonal type 2O 37 33 1585 2573 169 0 4287
not provided 36 62 732 417 234 0 1408
Inborn genetic diseases 10 8 349 252 49 0 668
not specified 0 0 109 238 83 0 397
DYNC1H1-related disorder 3 13 56 113 10 2 197
Charcot-Marie-Tooth disease 0 3 30 105 44 1 182
Autosomal dominant cerebellar ataxia 0 0 74 40 51 0 165
Intellectual disability, autosomal dominant 13 17 43 81 9 9 0 158
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13 2 4 40 16 0 5 66
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 11 17 10 0 9 0 43
Intellectual disability 2 5 9 4 0 0 19
Lissencephaly 0 12 6 0 0 0 18
Ovarian serous cystadenocarcinoma 0 0 0 0 0 15 15
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 15 15
Neuronopathy, distal hereditary motor, autosomal dominant 0 0 12 0 0 0 12
Gastric cancer 0 0 0 0 0 8 8
Malignant tumor of esophagus 0 0 0 0 0 8 8
See cases 0 2 6 0 0 0 8
Autism spectrum disorder 0 2 3 2 0 0 7
Asphyxiating thoracic dystrophy 3 0 1 5 0 0 0 6
Lung cancer 0 0 0 0 0 6 6
Cervical cancer 0 0 0 0 0 5 5
DYNC1H1-related neurodevelopmental disorders 1 0 4 0 0 0 5
Distal spinal muscular atrophy 0 0 4 1 0 0 5
Melanoma 0 0 0 0 0 5 5
Charcot-Marie-Tooth disease, type I 0 0 4 0 0 0 4
Familial cancer of breast 0 0 0 0 0 4 4
Uterine corpus endometrial carcinoma 0 0 0 0 0 4 4
Acute myeloid leukemia 0 0 0 0 0 3 3
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O 0 0 1 0 0 2 3
DYNC1H1-related neuronopathy 0 0 3 0 0 0 3
Hepatocellular carcinoma 0 0 0 0 0 3 3
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Intellectual disability, autosomal dominant 13 0 0 2 0 0 0 2
Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13; Spinal muscular atrophy with lower extremity predominance 0 0 0 0 0 2 2
Charcot-Marie-Tooth disease type 5 0 1 1 0 0 0 2
Colon adenocarcinoma 0 0 0 0 0 2 2
Distal myopathy 0 0 2 0 0 0 2
Fetal akinesia deformation sequence 1; Arthrogryposis multiplex congenita 0 0 2 0 0 0 2
Neurodevelopmental abnormality 0 0 0 2 0 0 2
Neurodevelopmental delay 0 2 0 0 0 0 2
Spinal muscular atrophy with lower extremity predominance 1 1 0 0 0 0 2
Squamous cell carcinoma of the head and neck 0 0 0 0 0 2 2
Thymoma 0 0 0 0 0 2 2
Abnormal cerebral morphology 1 0 0 0 0 0 1
Abnormality of neuronal migration 1 0 0 0 0 0 1
Abnormality of the nervous system 0 1 0 0 0 0 1
Amyotrophic lateral sclerosis 0 0 1 0 0 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O; Spinal muscular atrophy with lower extremity predominance 0 0 0 0 0 1 1
Cerebellar ataxia; Headache; Cerebellar atrophy; Gait ataxia; Impaired vibration sensation in the lower limbs; Vertigo; Muscle spasm 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease axonal type 2O; Spinal muscular atrophy with lower extremity predominance 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease type 4 0 0 1 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
Congenital cerebellar hypoplasia; High palate; Delayed puberty; Partial agenesis of the corpus callosum; Microcephaly; Small for gestational age; Abnormal cortical gyration; Hypoglycemic encephalopathy; Periventricular cysts 0 0 0 1 0 0 1
Corpus callosum, agenesis of; Seizure; Focal-onset seizure; Ectopic tissue 0 0 1 0 0 0 1
DYNC1H1-Related Neuromuscular Disorder (DYNC1H1-NMD) 0 0 1 0 0 0 1
DYNC1H1-related neurological disorders 0 1 0 0 0 0 1
Distal lower limb muscle weakness 0 1 0 0 0 0 1
Dyneinopathy 0 1 0 0 0 0 1
Epilepsy with generalized tonic-clonic seizures 0 0 1 0 0 0 1
Familial prostate cancer 0 0 0 0 0 1 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Global developmental delay 0 0 1 0 0 0 1
Global developmental delay; Motor delay; Polymicrogyria; Hypotonia 0 1 0 0 0 0 1
Global developmental delay; Seizure; Delayed speech and language development; Microcephaly; Delayed gross motor development 0 1 0 0 0 0 1
Hereditary motor and sensory neuropathy 1 0 0 0 0 0 1
Hereditary motor neuron disease 0 0 1 0 0 0 1
Lower limb muscle weakness 0 1 0 0 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 0 1 0 0 0 0 1
Multiple congenital anomalies/dysmorphic syndrome 0 0 1 0 0 0 1
Myopathy; Muscle weakness 0 0 1 0 0 0 1
Myopathy; Pes cavus; Hammertoe; Distal lower limb amyotrophy 0 1 0 0 0 0 1
Neurodevelopmental disorder 0 0 1 0 0 0 1
Pachygyria; Global developmental delay; Hypoplasia of the corpus callosum; Microcephaly; Infantile spasms 0 0 1 0 0 0 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 1
Peripheral neuropathy 1 0 0 0 0 0 1
Polyneuropathy 0 0 1 0 0 0 1
Progressive muscle weakness 0 1 0 0 0 0 1
Rhizomelic chondrodysplasia punctata type 5 0 0 1 0 0 0 1
Seizure 0 1 0 0 0 0 1
Spinal muscular atrophy 1 0 0 0 0 0 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1
Uveal melanoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 138
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 37 17 1445 2553 160 0 4212
GeneDx 29 43 537 348 226 0 1183
Ambry Genetics 10 8 349 252 49 0 668
CeGaT Center for Human Genetics Tuebingen 9 10 115 165 11 0 310
PreventionGenetics, part of Exact Sciences 1 7 55 113 22 0 198
Illumina Laboratory Services, Illumina 1 1 92 52 52 0 176
Molecular Genetics Laboratory, London Health Sciences Centre 0 0 12 105 44 0 161
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 60 63 16 0 142
Genetic Services Laboratory, University of Chicago 1 5 42 56 24 0 128
Breakthrough Genomics, Breakthrough Genomics 0 0 4 39 77 0 120
Mayo Clinic Laboratories, Mayo Clinic 0 0 23 30 39 0 92
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 12 29 37 0 79
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 76 76
Athena Diagnostics 0 0 12 10 47 0 69
Revvity Omics, Revvity 2 3 39 1 0 0 45
Clinical Genetics, Academic Medical Center 1 0 4 11 24 0 40
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 17 15 0 33
Fulgent Genetics, Fulgent Genetics 1 1 17 14 0 0 33
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 29 0 0 0 29
3billion 4 12 11 0 0 0 27
Institute of Human Genetics, University of Leipzig Medical Center 5 2 16 1 0 0 24
Genesis Genome Database 0 0 23 0 0 0 23
Eurofins Ntd Llc (ga) 1 0 12 6 2 0 21
University of Washington Center for Mendelian Genomics, University of Washington 2 13 6 0 0 0 19
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 4 0 13 0 18
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 4 11 1 1 0 17
New York Genome Center 0 1 16 0 0 0 17
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 14 1 0 0 15
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 4 8 0 0 0 15
Inherited Neuropathy Consortium 0 1 13 1 0 0 15
Mendelics 2 7 4 1 0 0 14
Baylor Genetics 0 2 11 0 0 0 13
Neuberg Centre For Genomic Medicine, NCGM 0 2 11 0 0 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 7 2 0 0 12
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 2 2 4 0 0 10
Clinical Genetics Laboratory, Skane University Hospital Lund 0 2 7 0 0 0 9
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 4 4 0 0 9
Genome-Nilou Lab 0 0 0 0 9 0 9
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 8 0 0 0 9
Diagnostic Laboratory, Strasbourg University Hospital 1 1 6 0 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 5 1 0 0 8
MVZ Martinsried, Medicover Genetics 0 2 6 0 0 0 8
OMIM 8 0 0 0 0 0 8
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 6 1 0 0 7
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 1 5 0 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 6 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 2 2 0 0 0 6
MGZ Medical Genetics Center 0 1 4 1 0 0 6
Département de Neurologie, Hospices Civils de Lyon 0 5 0 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 5 0 0 0 0 5
GenomeConnect - Brain Gene Registry 0 0 0 0 0 5 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 5 0 5
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 3 0 0 0 4
Institute of Human Genetics Munich, TUM University Hospital 1 3 0 0 0 0 4
Institute of Human Genetics, University of Wuerzburg 0 0 4 0 0 0 4
Kariminejad - Najmabadi Pathology & Genetics Center 1 1 2 0 0 0 4
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 4 0 0 4
MVZ Medizinische Genetik Mainz 0 1 3 0 0 0 4
Pediatric Genomics Discovery Program, Yale University 0 4 0 0 0 0 4
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 4 0 0 4
Centre of Medical Genetics, University Hospital Muenster 0 1 2 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 2 0 0 3
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 1 1 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 2 0 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 2 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 0 3 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 0 0 0 0 3
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 2 1 0 0 0 3
Undiagnosed Diseases Network, NIH 1 1 1 0 0 0 3
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 2 0 0 0 2
Centre for Medical Genetics, Mumbai 0 0 0 2 0 0 2
Cirak Lab, University Hospital Cologne 0 0 2 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 1 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
Department of Molecular Genetics, Istishari Arab Hospital 0 0 2 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 1 1 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 1 0 0 0 2
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 0 0 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 2 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 0 0 2
Molecular Neurogenomics lab, VIB Department of Molecular Genetics; University of Antwerp 2 0 0 0 0 0 2
Next Generation Genetic Polyclinic 0 1 1 0 0 0 2
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 2 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 1 0 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 1
Center for Genetic Medicine Research, Children's National Medical Center 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 0 1
Center for Statistical Genetics, Columbia University 1 0 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 0 1 0 0 0 1
Children's Services, Oxford University Hospitals NHS Foundation Trust 0 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 0 1
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town 0 1 0 0 0 0 1
Dasa 1 0 0 0 0 0 1
Department of Medical and Surgical Sciences, University of Bologna 0 1 0 0 0 0 1
Department of Neurology, Mianyang Central Hospital, School of Medicine, University of Electronic Science and Technology of China 0 1 0 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust 0 1 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 0 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 1 0 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Plataforma de Genómica Funcional - SJD, Institut De Recerca Sant Joan De Déu 1 0 0 0 0 0 1
Population and Medical Genomics Lab, Sidra Medicine 0 1 0 0 0 0 1
Qatar Biomedical Research Institute, Hamad Bin Khalifa University 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Suma Genomics 0 0 0 1 0 0 1
Tongji Hospital, Huazhong University of Science and Technology 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
University Research Institute for the Study of Genetic and Malignant Disorders in Childhood, National and Kapodistrian University of Athens 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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