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
26 51 474 618 160 1 1150

Condition and significance breakdown #

Total conditions: 37
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 10 24 114 337 138 0 599
not specified 0 0 46 253 51 0 321
Charcot-Marie-Tooth disease, axonal, type 2O 2 7 212 52 6 0 279
History of neurodevelopmental disorder 0 1 18 78 32 0 129
Charcot-Marie-Tooth disease, type 2 0 0 68 26 0 0 94
Intellectual Disability, Dominant 0 0 68 26 0 0 94
Spinocerebellar Ataxia, Dominant 0 0 68 26 0 0 94
Charcot-Marie-Tooth disease 1 2 19 0 0 0 21
Mental retardation, autosomal dominant 13 8 8 3 0 0 0 19
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2O; Mental retardation, autosomal dominant 13 1 1 16 0 0 0 18
Autosomal dominant distal hereditary motor neuropathy 0 0 12 0 0 0 12
Inborn genetic diseases 4 2 6 0 0 0 12
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant 6 2 1 0 0 0 8
Distal spinal muscular atrophy 0 0 4 1 0 0 5
Charcot-Marie-Tooth disease, type I 0 0 4 0 0 0 4
Fetal akinesia sequence; Arthrogryposis multiplex congenita 0 0 2 0 0 0 2
Intellectual disability 0 2 0 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
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 with pyramidal features, autosomal dominant 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; Seizures; Focal seizures; Heterotopia 0 0 1 0 0 0 1
DYNC1H1-related disorders 0 0 0 0 0 1 1
Distal lower limb muscle weakness 0 1 0 0 0 0 1
Genetic motor neuron disease 0 0 1 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
Lower limb muscle weakness 0 1 0 0 0 0 1
Muscular Diseases; Muscle weakness 0 0 1 0 0 0 1
Muscular Diseases; Pes cavus; Hammertoe; Distal lower limb amyotrophy 0 1 0 0 0 0 1
Polyneuropathy 0 0 1 0 0 0 1
Progressive muscle weakness 0 1 0 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: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1 2 208 340 78 0 629
GeneDx 10 22 68 259 88 0 447
Ambry Genetics 4 3 24 78 32 0 141
Genetic Services Laboratory, University of Chicago 0 3 40 50 13 0 106
Illumina Clinical Services Laboratory,Illumina 0 0 68 26 0 0 94
Athena Diagnostics Inc 0 0 6 5 34 0 45
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 29 2 0 0 32
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 13 8 2 0 24
Genesis Genome Database 0 0 24 0 0 0 24
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 4 9 0 17
Inherited Neuropathy Consortium 0 1 13 1 0 0 15
PreventionGenetics,PreventionGenetics 0 0 0 1 13 0 14
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 4 4 1 0 0 9
Mendelics 1 3 3 1 0 0 8
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
Pediatric Genomics Discovery Program,Yale University 0 4 0 0 0 0 4
Baylor Genetics 0 0 3 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 0 0 0 0 3
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
University of Washington Center for Mendelian Genomics,University of Washington 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
Cirak Lab,University Hospital Cologne 0 0 2 0 0 0 2
Institute of Human Genetics,University of Goettingen 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 Genetic Testing 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
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
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
Institute of Human Genetics,University of Wuerzburg 0 0 1 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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 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

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