ClinVar Miner

Variants studied for Alagille syndrome

Included ClinVar conditions (8):
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
208 72 512 587 108 5 1426

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
JAG1 198 64 417 551 104 5 1273
NOTCH2 7 8 93 35 4 0 147
ANKEF1, HAO1, JAG1, LAMP5, MKKS, PAK5, PLCB1, PLCB4, SLX4IP, SNAP25, TMX4 0 0 1 0 0 0 1
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, MIR6870 0 0 0 1 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: 66
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 161 20 348 534 103 0 1166
Fulgent Genetics, Fulgent Genetics 2 0 137 77 7 0 223
Illumina Laboratory Services, Illumina 1 1 13 2 0 0 17
Baylor Genetics 4 3 9 0 0 0 16
OMIM 15 0 0 0 0 0 15
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 3 1 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
Genome-Nilou Lab 0 0 0 0 8 0 8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 2 2 1 0 0 8
MGZ Medical Genetics Center 1 0 4 0 0 0 5
Mendelics 3 0 0 1 1 0 5
GeneReviews 0 0 0 0 0 5 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 3 0 0 0 5
Istanbul Faculty of Medicine, Istanbul University 4 1 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 2 2 0 0 0 5
Genomics And Bioinformatics Analysis Resource, Columbia University 1 4 0 0 0 0 5
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 4 0 0 0 0 4
Yale Center for Mendelian Genomics, Yale University 2 2 0 0 0 0 4
Institute of Human Genetics, Cologne University 0 2 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 1 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 2 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 2 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
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
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 2 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 2 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 2 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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 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
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 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
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 0 0 0 0 1
Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics 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
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
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 1 0 0 0 0 1

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