ClinVar Miner

Variants in gene TUBA1A

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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
103 138 88 86 21 6 353

Condition and significance breakdown #

Total conditions: 35
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 42 39 54 77 20 0 208
Tubulinopathy 63 50 1 0 0 0 113
Lissencephaly due to TUBA1A mutation 33 58 22 0 2 5 102
not specified 0 0 8 12 14 0 34
Inborn genetic diseases 9 9 2 1 0 0 21
TUBA1A-related condition 1 4 3 11 2 0 21
Tubulinopathy-associated dysgyria 5 2 0 0 0 0 7
Lissencephaly 0 5 1 0 0 0 6
Lissencephaly type 3 3 2 1 0 0 0 6
TUBA1A-associated tubulinopathy 1 3 0 0 0 0 4
Cerebral palsy 1 0 1 0 0 0 2
Congenital bilateral perisylvian syndrome; Congenital fibrosis of extraocular muscles 1 1 0 0 0 0 2
Abnormal brain morphology 0 1 0 0 0 0 1
Abnormal brainstem morphology; Abnormal cortical gyration 1 0 0 0 0 0 1
Abnormal cerebral morphology 0 1 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
Autosomal recessive limb-girdle muscular dystrophy type 2D 1 0 0 0 0 0 1
Congenital bilateral perisylvian syndrome 1 0 0 0 0 0 1
Congenital cerebellar hypoplasia 0 1 0 0 0 0 1
Congenital fibrosis of extraocular muscles 0 1 0 0 0 0 1
Cryptorchidism; Corpus callosum, agenesis of; Lissencephaly 1 0 0 0 0 0 1
Dandy-Walker syndrome 0 1 0 0 0 0 1
Early myoclonic encephalopathy; Continuous spike and waves during slow sleep; Tubulinopathy-associated dysgyria 1 0 0 0 0 0 1
Global developmental delay; Seizure; Decreased head circumference 0 1 0 0 0 0 1
Lissencephaly due to LIS1 mutation 0 0 1 0 0 0 1
Lissencephaly due to TUBA1A mutation; Corpus callosum, agenesis of; Cerebellar vermis hypoplasia 0 1 0 0 0 0 1
Lissencephaly due to TUBA1A mutation; Corpus callosum, agenesis of; Genetic syndrome with a Dandy-Walker malformation as major feature 1 0 0 0 0 0 1
Lissencephaly; Polymicrogyria 0 0 0 0 0 1 1
Movement disorder 0 0 1 0 0 0 1
Neurodevelopmental disorder 1 0 0 0 0 0 1
Rare genetic intellectual disability 0 1 0 0 0 0 1
Recurrent hand flapping 0 0 1 0 0 0 1
Seizure 0 1 0 0 0 0 1
West syndrome; Tubulinopathy-associated dysgyria 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 91
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 10 9 37 67 12 0 135
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 64 48 1 0 0 0 112
GeneDx 40 18 11 12 18 0 99
Genetic Services Laboratory, University of Chicago 7 18 10 5 12 0 52
PreventionGenetics, part of Exact Sciences 1 4 3 11 5 0 24
Ambry Genetics 9 9 2 1 0 0 21
CeGaT Center for Human Genetics Tuebingen 4 7 4 3 2 0 20
Institute of Human Genetics, University of Leipzig Medical Center 3 6 4 0 0 0 13
Baylor Genetics 5 3 3 0 0 0 11
OMIM 9 0 0 0 0 0 9
Athena Diagnostics Inc 0 0 1 2 6 0 9
Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg 7 2 0 0 0 0 9
University of Washington Center for Mendelian Genomics, University of Washington 0 6 1 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 2 1 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 5 0 0 0 0 6
MGZ Medical Genetics Center 2 2 1 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 1 1 0 0 5
Eurofins Ntd Llc (ga) 0 1 2 0 2 0 5
GeneReviews 0 0 0 0 0 4 4
Fulgent Genetics, Fulgent Genetics 1 2 1 0 0 0 4
Service de Génétique Moléculaire, Hôpital Robert Debré 2 2 0 0 0 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 0 0 2 0 4
Bruce Lefroy Centre, Murdoch Childrens Research Institute 1 2 1 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 0 2 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 2 0 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 1 1 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 1 0 0 0 3
Engle Laboratory, Boston Children's Hospital 1 2 0 0 0 0 3
Yale Center for Mendelian Genomics, Yale University 0 0 3 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 1 1 0 0 0 3
Institute of Human Genetics, University of Goettingen 1 1 0 0 0 0 2
Revvity Omics, Revvity 0 0 2 0 0 0 2
Mendelics 1 1 0 0 0 0 2
Dobyns Lab, Seattle Children's Research Institute 1 1 0 0 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 0 2 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 1 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 2 0 0 0 0 2
Genetics Institute, Tel Aviv Sourasky Medical Center 2 0 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Department of Laboratory Medicine, Yonsei University College of Medicine 0 2 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 1 0 0 0 0 2
3billion 1 0 1 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 2 0 0 0 0 2
Suma Genomics 1 1 0 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 1 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 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
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 1 0 0 0 0 1
Prenatal Medicine Munich, Prenatal Medicine Munich 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Center for Statistical Genetics, Columbia University 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 1 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
Neurogenetics Research Program, University of Adelaide 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Department of Pediatrics, Driscoll Children's Hospital 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 0 1 0 0 0 0 1
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 0 0 1 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1

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