ClinVar Miner

Variants in gene TUBA1A

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Gene type:
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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
81 71 34 27 17 1 190

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Tubulinopathies 68 52 1 0 0 0 121
not provided 15 22 8 11 12 0 65
Lissencephaly 3 20 26 8 0 0 1 52
not specified 0 0 6 16 12 0 30
Lissencephaly, Dominant 0 0 10 8 4 0 22
Inborn genetic diseases 5 3 2 0 0 0 10
Abnormality of neuronal migration 1 0 0 0 0 0 1
Cryptorchidism; Corpus callosum agenesis; Lissencephaly 1 0 0 0 0 0 1
Global developmental delay; Seizures; Decreased head circumference 0 1 0 0 0 0 1
Limb-girdle muscular dystrophy, type 2D 1 0 0 0 0 0 1
Lissencephaly 3; Corpus callosum agenesis; Cerebellar vermis hypoplasia 0 1 0 0 0 0 1
Lissencephaly 3; Corpus callosum agenesis; Genetic syndrome with a Dandy-Walker malformation as major feature 1 0 0 0 0 0 1
Tubulinopathy 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 68 52 1 0 0 0 121
GeneDx 15 20 3 12 3 0 53
Genetic Services Laboratory, University of Chicago 7 17 10 4 10 0 48
Illumina Clinical Services Laboratory,Illumina 0 0 10 8 4 0 22
Invitae 0 0 0 11 8 0 19
Ambry Genetics 5 3 2 0 0 0 10
OMIM 9 0 0 0 0 0 9
Athena Diagnostics Inc 0 0 1 1 6 0 8
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 2 0 2 0 5
PreventionGenetics,PreventionGenetics 0 0 0 0 4 0 4
GeneReviews 4 0 0 0 0 0 4
Baylor Genetics 2 0 1 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 0 0 0 3
Broad Institute Rare Disease Group,Broad Institute 2 1 0 0 0 0 3
Mendelics 1 1 0 0 0 0 2
Dobyns Lab,Seattle Children's Research Institute 1 1 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 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 Genetic Testing Laboratories,Mayo Clinic 0 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 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
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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 0 0 0 1
Department of Pediatrics,Driscoll Children's Hospital 1 0 0 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 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

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