ClinVar Miner

Variants in gene PIEZO2

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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 not provided total
71 66 558 321 293 2 1210

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 31 22 252 290 292 0 842
Inborn genetic diseases 6 2 255 9 0 0 272
Arthrogryposis, distal, with impaired proprioception and touch 26 22 25 1 25 0 97
not specified 0 0 24 18 38 0 79
PIEZO2-related disorder 1 9 18 24 2 0 54
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome 15 4 6 0 24 0 47
Gordon syndrome 6 5 11 0 24 0 46
Marden-Walker syndrome 2 2 9 1 24 0 38
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome; Gordon syndrome; Marden-Walker syndrome; Arthrogryposis, distal, with impaired proprioception and touch 0 2 17 4 0 0 23
Fetal akinesia deformation sequence 1; Arthrogryposis multiplex congenita 2 1 0 0 0 0 3
See cases 1 0 2 0 0 0 3
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome; Gordon syndrome 1 0 1 0 0 0 2
Congenital contracture 0 0 2 0 0 0 2
Distal arthrogryposis 1 0 1 0 0 0 2
autosomal recessive PIEZO2 associated disease 0 0 2 0 0 0 2
Abnormality of the skeletal system 1 0 0 0 0 0 1
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome; Gordon syndrome; Arthrogryposis, distal, with impaired proprioception and touch 0 0 1 0 0 0 1
Cerebral palsy 0 0 1 0 0 0 1
FAM38B-related disorder 1 0 0 0 0 0 1
Failure to thrive; Scoliosis; Exocrine pancreatic insufficiency; Congenital ichthyosiform erythroderma 0 1 0 0 0 0 1
Heterotaxy, visceral, 4, autosomal 0 1 0 0 0 0 1
Hypotonia 0 1 0 0 0 0 1
Large for gestational age 0 0 0 0 0 1 1
Myopathy 0 0 1 0 0 0 1
Normal pregnancy 0 0 0 0 0 1 1
Schizophrenia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 78
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 8 13 130 92 231 0 474
Labcorp Genetics (formerly Invitae), Labcorp 9 4 93 180 97 0 383
Ambry Genetics 6 2 255 9 0 0 272
Breakthrough Genomics, Breakthrough Genomics 0 0 3 38 101 0 142
PreventionGenetics, part of Exact Sciences 0 5 17 28 35 0 85
CeGaT Center for Human Genetics Tuebingen 7 3 22 37 0 0 69
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 3 16 11 0 0 33
Revvity Omics, Revvity 7 3 13 1 0 0 24
Genome-Nilou Lab 0 0 0 0 24 0 24
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 18 1 0 0 19
OMIM 18 0 0 0 0 0 18
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 11 2 0 0 17
University of Washington Center for Mendelian Genomics, University of Washington 13 0 0 0 0 0 13
Baylor Genetics 3 2 7 0 0 0 12
Neuberg Centre For Genomic Medicine, NCGM 1 2 6 0 0 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 6 1 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 5 3 0 0 0 8
Genetic Services Laboratory, University of Chicago 0 0 4 0 3 0 7
Illumina Laboratory Services, Illumina 4 0 3 0 0 0 7
3billion 4 3 0 0 0 0 7
Mendelics 5 0 0 0 1 0 6
Fulgent Genetics, Fulgent Genetics 0 0 2 4 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 4 1 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 5 0 0 0 6
Clinical Genetics, Academic Medical Center 0 0 0 2 2 0 4
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 3 0 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 2 1 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 0 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 3 0 0 4
New York Genome Center 0 2 2 0 0 0 4
MVZ Medizinische Genetik Mainz 0 2 2 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 3 0 3
Institute of Human Genetics, Cologne University 1 0 2 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 2 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Institute of Human Genetics, University of Wuerzburg 0 1 2 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 2 0 0 0 3
Cirak Lab, University Hospital Cologne 2 1 0 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 2 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 3 0 0 0 0 3
MGZ Medical Genetics Center 1 0 1 0 0 0 2
Eurofins Ntd Llc (ga) 0 0 2 0 0 0 2
Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 0 2 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 1 1 0 0 0 0 2
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 1 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 0 0 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 2 0 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 2 0 0 0 0 2
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 1 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Neurogenetics Research Program, University of Adelaide 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Department of Pediatrics, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Suma Genomics 0 0 1 0 0 0 1
Cytogenetics, Genetics Associates, Inc. 1 0 0 0 0 0 1
Department of Psychiatry, The University of Hong Kong 0 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1

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