ClinVar Miner

Variants in gene TJP2

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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
56 28 356 203 103 1 658

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 26 9 304 173 99 1 554
TJP2-related condition 0 5 17 51 3 0 76
not specified 0 0 15 25 38 0 74
Inborn genetic diseases 1 0 59 0 0 0 60
Cholestasis, progressive familial intrahepatic, 4 32 13 5 0 7 0 54
Hypercholanemia, familial 1; Cholestasis, progressive familial intrahepatic, 4 0 3 8 1 1 0 13
Hypercholanemia, familial 1 3 0 1 0 7 0 11
Nonsyndromic Hearing Loss, Dominant 0 0 6 0 0 0 6
Hearing impairment 0 0 3 0 0 0 3
Autosomal dominant nonsyndromic hearing loss 51 2 0 0 0 0 0 2
Melnick-Fraser syndrome 0 1 0 0 0 0 1
Primary biliary cholangitis 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 11 3 86 115 47 0 262
GeneDx 2 2 103 68 78 0 253
Eurofins Ntd Llc (ga) 12 0 156 6 11 0 185
PreventionGenetics, part of Exact Sciences 0 5 17 56 28 0 106
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 15 17 28 0 60
Ambry Genetics 1 0 59 0 0 0 60
CeGaT Center for Human Genetics Tuebingen 0 0 7 8 0 0 15
The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University 10 3 0 0 0 0 13
Athena Diagnostics Inc 0 0 2 0 10 0 12
Fulgent Genetics, Fulgent Genetics 0 1 8 1 1 0 11
Mayo Clinic Laboratories, Mayo Clinic 0 0 9 0 0 0 9
OMIM 8 0 0 0 0 0 8
Revvity Omics, Revvity 2 2 4 0 0 0 8
Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH 5 3 0 0 0 0 8
Genome-Nilou Lab 0 0 0 0 7 0 7
Illumina Laboratory Services, Illumina 0 0 6 0 0 0 6
Baylor Genetics 3 0 2 0 0 0 5
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 1 3 0 0 0 4
Elsea Laboratory, Baylor College of Medicine 0 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 2 0 0 0 0 2
Mendelics 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 2
Laboratory of Prof. Karen Avraham, Tel Aviv University 2 0 0 0 0 0 2
Molecular Genetics Laboratory, CHU Lille 2 0 0 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 2 0 0 0 0 2
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 1 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 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
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
3billion 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
Department of Human Genetics, Hannover Medical School 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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