ClinVar Miner

Variants studied for Alagille syndrome due to a JAG1 point mutation

Included ClinVar conditions (5):
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
209 69 424 553 104 5 1297

Gene and significance breakdown #

Total genes and gene combinations: 7
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
JAG1 204 69 422 552 104 5 1289
ANKEF1, HAO1, JAG1, LAMP5, MKKS, PAK5, PLCB1, PLCB4, SLX4IP, SNAP25, TMX4 1 0 1 0 0 0 2
JAG1, MIR6870 1 0 0 1 0 0 2
FAM13A, JAG1 1 0 0 0 0 0 1
JAG1, LOC112694687, LOC112694688, LOC121627892, LOC125384578, LOC125384579, LOC125384580, LOC126862972, LOC126862973, LOC128706665, LOC128706666, LOC130065416, LOC130065417, LOC130065418, LOC130065419, LOC130065420, LOC130065421, LOC130065422, LOC130065423, LOC130065424, LOC130065425, MIR6870, MKKS, SLX4IP, SNAP25 1 0 0 0 0 0 1
JAG1, MKKS, SLX4IP, SNAP25 1 0 0 0 0 0 1
JAG1, SLX4IP 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 64
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 163 20 348 534 103 0 1168
Fulgent Genetics, Fulgent Genetics 2 0 59 46 5 0 112
Illumina Laboratory Services, Illumina 1 1 12 2 0 0 16
OMIM 13 0 0 0 0 0 13
Baylor Genetics 4 1 6 0 0 0 11
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 4 2 1 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 1 1 2 0 0 9
3billion 4 4 1 0 0 0 9
Molecular Diagnostics Laboratory, Seoul National University Hospital 2 6 0 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 1 5 2 0 0 0 8
Mendelics 3 0 0 1 1 0 5
GeneReviews 0 0 0 0 0 5 5
Juno Genomics, Hangzhou Juno Genomics, Inc 4 0 1 0 0 0 5
Istanbul Faculty of Medicine, Istanbul University 4 1 0 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Genomics And Bioinformatics Analysis Resource, Columbia University 1 4 0 0 0 0 5
MGZ Medical Genetics Center 1 0 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 1 0 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 3 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 2 0 0 0 0 3
Institute of Human Genetics, Cologne University 0 1 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 1 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 1 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 1 0 1 0 2
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
Centre of Medical Genetics, University of Antwerp 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Institute of Medical Genetics, University of Zurich 1 0 0 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 1
Molecular Diagnostic Laboratory, Beijing Chigene Translational Medicine Research Center 1 0 0 0 0 0 1
Credence Genomics 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 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.