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 68 33 21 12 1 180

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Tubulinopathies 68 52 1 0 0 0 121
Lissencephaly 3 18 23 8 0 0 1 48
not provided 15 22 7 1 3 0 48
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
Limb-girdle muscular dystrophy, type 2D 1 0 0 0 0 0 1
Lissencephaly 3; Agenesis of corpus callosum; Cerebellar vermis hypoplasia 0 1 0 0 0 0 1
Lissencephaly 3; Agenesis of corpus callosum; 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: 30
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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
Ambry Genetics 5 3 2 0 0 0 10
OMIM 9 0 0 0 0 0 9
Athena Diagnostics Inc 0 0 1 1 3 0 5
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 2 0 2 0 5
PreventionGenetics 0 0 0 0 4 0 4
GeneReviews 4 0 0 0 0 0 4
Baylor Genetics 1 0 1 0 0 0 2
Dobyns Lab,Seattle Children's Research Institute 1 1 0 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 2
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 1 1 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 1 1 0 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
Mendelics 1 0 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

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