ClinVar Miner

Variants in gene TJP2

Minimum submission review status: Collection method:
Minimum conflict level:
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
35 8 198 71 43 1 307

Condition and significance breakdown #

Total conditions: 7
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 13 3 160 26 27 1 217
not specified 0 0 15 31 37 0 74
Nonsyndromic Hearing Loss, Dominant 0 0 32 27 1 0 60
Progressive familial intrahepatic cholestasis 4 21 5 0 0 0 0 26
Deafness, autosomal dominant 51 3 0 0 0 0 0 3
Hypercholanemia, familial; Progressive familial intrahepatic cholestasis 4 0 1 1 0 0 0 2
Hypercholanemia, familial 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 12 0 156 6 11 0 185
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 15 17 28 0 60
Illumina Clinical Services Laboratory,Illumina 0 0 32 27 1 0 60
Invitae 0 0 0 20 18 0 38
GeneDx 1 2 1 16 16 0 36
PreventionGenetics,PreventionGenetics 0 0 0 5 25 0 30
The Center for Liver Diseases, Children’s Hospital of Fudan University 10 3 0 0 0 0 13
Athena Diagnostics Inc 0 0 2 0 8 0 10
OMIM 8 0 0 0 0 0 8
Laboratory of Prof. Karen Avraham,Tel Aviv University 3 0 0 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 1 1 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Developmental Genetics Unit,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
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.