ClinVar Miner

Variants in gene ZEB2

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Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

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 total
159 16 192 224 78 592

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Mowat-Wilson syndrome 101 11 141 92 46 371
not provided 66 2 48 50 21 186
not specified 0 0 12 111 38 147
History of neurodevelopmental disorder 1 0 6 27 8 42
Inborn genetic diseases 3 0 0 0 0 3
Marfanoid habitus and intellectual disability 0 2 0 0 0 2
Abnormality of brain morphology 0 1 0 0 0 1
Fetal akinesia sequence; Arthrogryposis multiplex congenita 0 0 1 0 0 1
Hirschsprung disease 0 0 1 0 0 1
Hirschsprung disease-mental retardation syndrome, late infantile 1 0 0 0 0 1
Lennox-Gastaut syndrome 0 0 1 0 0 1
Smith-Magenis Syndrome-like 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 24 1 76 80 43 224
GeneDx 43 0 25 107 46 221
Illumina Clinical Services Laboratory,Illumina 0 0 50 40 7 97
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 26 1 17 8 18 70
Genetic Services Laboratory, University of Chicago 17 0 14 12 12 55
Ambry Genetics 4 0 6 27 8 45
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics 31 0 0 2 1 34
OMIM 15 0 0 0 0 15
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 2 0 0 4 6 12
CeGaT Praxis fuer Humangenetik Tuebingen 3 0 6 2 0 11
Athena Diagnostics Inc 0 0 5 1 3 9
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 5 0 1 2 1 9
Center for Human Genetics, Inc,Center for Human Genetics, Inc 1 4 0 3 0 8
Mendelics 4 1 1 2 0 8
Baylor Genetics 4 0 0 0 0 4
Fulgent Genetics,Fulgent Genetics 1 0 3 0 0 4
Institute of Human Genetics,Klinikum rechts der Isar 3 1 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 0 0 0 3
PreventionGenetics,PreventionGenetics 0 0 0 1 1 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 1 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 1
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center 0 0 1 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Center of Medical Genetics and Primary Health Care 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 1
Cirak Lab,University Hospital Cologne 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 1

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