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 41 380 413 95 1 812

Condition and significance breakdown #

Total conditions: 28
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Charcot-Marie-Tooth disease, axonal, type 2O 1 3 152 144 67 0 367
not specified 0 0 46 253 47 0 320
not provided 10 24 99 9 23 0 164
History of neurodevelopmental disorder 0 1 21 79 28 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
Mental retardation, autosomal dominant 13 8 8 2 0 0 0 18
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
Inborn genetic diseases 4 2 6 0 0 0 12
Autosomal dominant distal hereditary motor neuropathy 0 0 11 0 0 0 11
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant 5 1 1 0 0 0 7
Charcot-Marie-Tooth disease 1 1 1 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
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
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
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
Seizures; Focal seizures; Heterotopia; Agenesis of corpus callosum 0 0 1 0 0 0 1
Spinal muscular atrophy 1 0 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: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 2 151 144 67 0 364
GeneDx 10 22 68 209 35 0 344
Ambry Genetics 4 3 27 79 28 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 4 5 29 0 38
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 13 8 2 0 24
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 16 0 0 0 17
PreventionGenetics 0 0 0 1 13 0 14
Inherited Neuropathy Consortium 0 0 13 0 0 0 13
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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 4 4 0 0 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 6 0 6
Fulgent Genetics 1 1 4 0 0 0 6
Baylor Genetics 0 0 3 0 0 0 3
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
Undiagnosed Diseases Network,NIH 1 1 0 0 0 0 2
Institute of Human Genetics,University of Goettingen 0 0 1 0 0 0 1
Mendelics 1 0 0 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
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 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
HudsonAlpha Institute for Biotechnology 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
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 1 0 0 0 0 1

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