ClinVar Miner

Variants in gene DYNC1H1

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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
36 76 778 780 174 2 1636

Condition and significance breakdown #

Total conditions: 45
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Charcot-Marie-Tooth disease, axonal, type 2O 8 8 541 399 87 0 995
not provided 16 31 132 210 88 0 468
not specified 0 0 46 251 50 0 322
Charcot-Marie-Tooth disease 1 2 31 109 45 0 187
Autosomal dominant cerebellar ataxia 0 0 84 43 54 0 181
History of neurodevelopmental disorder 0 1 16 80 32 0 129
Mental retardation, autosomal dominant 13 10 13 18 6 0 0 47
Inborn genetic diseases 6 3 13 0 0 0 22
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2O; Mental retardation, autosomal dominant 13 1 1 17 0 0 1 20
Intellectual disability 2 5 7 5 0 0 19
Lissencephaly 0 12 6 0 0 0 18
none provided 0 0 1 4 12 0 17
Autosomal dominant distal hereditary motor neuropathy 0 0 12 0 0 0 12
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant 6 3 2 0 0 0 10
DYNC1H1-related neurodevelopmental disorders 1 0 4 0 0 0 5
Distal spinal muscular atrophy 0 0 4 1 0 0 5
Charcot-Marie-Tooth disease, type I 0 0 4 0 0 0 4
Neurodevelopmental abnormality 0 0 0 3 0 0 3
Charcot-Marie-Tooth disease, type 2 0 0 2 0 0 0 2
Fetal akinesia sequence; Arthrogryposis multiplex congenita 0 0 2 0 0 0 2
Intellectual Disability, Dominant 0 0 2 0 0 0 2
Spinal muscular atrophy 1 1 0 0 0 0 2
Abnormality of neuronal migration 1 0 0 0 0 0 1
Autism spectrum disorder 0 1 0 0 0 0 1
Cerebellar ataxia; Headache; Cerebellar atrophy; Gait ataxia; Impaired vibration sensation in the lower limbs; Vertigo; Muscle cramps 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 4 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 5 0 0 1 0 0 0 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; Seizures; Focal seizures; Heterotopia 0 0 1 0 0 0 1
DYNC1H1-related disorders 0 0 0 0 0 1 1
DYNC1H1-related neuronopathy 0 0 1 0 0 0 1
Distal lower limb muscle weakness 0 1 0 0 0 0 1
Global developmental delay; Hypoplasia of the corpus callosum; Microcephaly; Pachygyria; Infantile spasms 0 0 1 0 0 0 1
Global developmental delay; Motor delay; Polymicrogyria; Muscular hypotonia 0 1 0 0 0 0 1
Global developmental delay; Seizures; 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
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
Polyneuropathy 0 0 1 0 0 0 1
Progressive muscle weakness 0 1 0 0 0 0 1
Seizures; Intellectual disability 0 0 1 0 0 0 1
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant; Mental retardation, autosomal dominant 13 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 6 1 442 464 78 0 991
GeneDx 10 22 68 259 88 0 447
Illumina Clinical Services Laboratory,Illumina 1 0 100 55 55 0 187
Molecular Genetics Laboratory,London Health Sciences Centre 0 0 12 109 45 0 166
Ambry Genetics 6 4 29 80 32 0 151
Genetic Services Laboratory, University of Chicago 0 3 39 47 17 0 106
CeGaT Praxis fuer Humangenetik Tuebingen 6 5 42 7 0 0 60
Athena Diagnostics Inc 0 0 7 7 38 0 52
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 5 8 13 0 27
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 13 8 2 0 24
Genesis Genome Database 0 0 24 0 0 0 24
University of Washington Center for Mendelian Genomics, University of Washington 2 13 6 0 0 0 19
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 4 11 1 1 0 17
Institute of Human Genetics, University of Leipzig Medical Center 2 3 10 1 0 0 16
Inherited Neuropathy Consortium 0 1 13 1 0 0 15
PreventionGenetics, PreventionGenetics 0 0 0 1 13 0 14
Baylor Genetics 0 1 10 0 0 0 11
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 10 0 0 0 10
OMIM 9 0 0 0 0 0 9
Mendelics 1 3 3 1 0 0 8
Diagnostic Laboratory, Strasbourg University Hospital 0 2 6 0 0 0 8
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 1 5 0 0 7
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 6 0 6
Fulgent Genetics,Fulgent Genetics 1 1 4 0 0 0 6
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 0 5 0 0 5
New York Genome Center 0 0 5 0 0 0 5
Pediatric Genomics Discovery Program,Yale University 0 4 0 0 0 0 4
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 2 1 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 0 0 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 1 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 3 0 0 3
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 0 2 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 2 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 0 2 0 0 0 0 2
Molecular Neurogenomics lab,VIB Department of Molecular Genetics; University of Antwerp 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Undiagnosed Diseases Network,NIH 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Cirak Lab,University Hospital Cologne 0 0 2 0 0 0 2
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico 0 0 2 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 0 1
Lineagen, Inc 0 0 1 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Center for Genetic Medicine Research,Children's National Medical Center 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 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 Statistical Genetics, Columbia University 1 0 0 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 0 1 0 0 0 1
Kasturba Medical College, Manipal University 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 1 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 1
Tongji Hospital, Huazhong University of Science and Technology 1 0 0 0 0 0 1

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