ClinVar Miner

Variants studied for biliary tract disorder

Included ClinVar conditions (55):
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 other not provided total
543 432 1419 816 244 11 493 3710

Gene and significance breakdown #

Total genes and gene combinations: 65
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
JAG1 223 80 530 613 110 0 487 1902
ABCB11 89 126 127 28 36 0 0 365
NOTCH2 8 16 264 48 4 0 0 340
ATP8B1 45 58 124 14 41 0 6 267
ABCB4 54 67 87 7 17 0 0 204
DCDC2 11 6 88 75 12 0 0 185
VPS33B 10 12 81 0 0 0 0 103
TJP2 33 20 17 3 8 0 0 77
USP53 14 20 7 0 0 0 0 40
UTP4 0 0 28 4 8 0 0 39
DCDC2, KAAG1 2 3 15 9 1 0 0 30
MYO5B 11 0 10 3 1 0 0 25
ABCB11, LOC126806400 6 7 9 1 0 0 0 21
NR1H4 5 4 5 0 0 0 0 14
ZFYVE19 6 1 2 0 0 0 0 9
KIF12 4 4 2 0 0 0 0 8
CLDN1, CLDN16 5 1 0 0 1 0 0 7
MYO5B, SNHG22 0 1 3 2 0 0 0 6
ATP8B1, LOC126862761 2 1 2 0 0 0 0 5
PKHD1 0 2 2 1 0 0 0 5
APC 0 0 4 0 0 0 0 4
PKD1 0 0 1 2 1 0 0 4
PSKH1 3 0 0 0 0 0 0 3
SLC51A 1 0 2 0 0 0 0 3
ABCB4, LOC129998756 0 0 0 0 2 0 0 2
ANKEF1, HAO1, JAG1, LAMP5, MKKS, PAK5, PLCB1, PLCB4, SLX4IP, SNAP25, TMX4 1 0 1 0 0 0 0 2
JAG1, MIR6870 1 0 0 1 0 0 0 2
​intergenic 1 0 0 0 0 0 0 1
ABCB4, LOC129998757 0 0 1 0 0 0 0 1
ALPK2, ATP8B1, FECH, GRP, MALT1, MIR122, NARS1, NEDD4L, ONECUT2, SEC11C, ST8SIA3, ZNF532 1 0 0 0 0 0 0 1
ATM 0 0 0 0 1 0 0 1
ATP8B1, LOC126862761, LOC126862762, LOC129390999 1 0 0 0 0 0 0 1
CLDN1 1 0 0 0 0 0 0 1
CXCL8 0 0 0 0 0 1 0 1
CXCR1 0 0 0 0 0 1 0 1
EGF 0 0 0 0 0 1 0 1
EGFR 0 0 0 0 0 1 0 1
EHHADH 0 0 0 1 0 0 0 1
FAM13A, JAG1 1 0 0 0 0 0 0 1
GLB1 1 0 0 0 0 0 0 1
HIF1A 0 0 0 0 0 1 0 1
IFT56 0 1 0 0 0 0 0 1
IL10, IL19 0 0 0 0 0 1 0 1
IL1B 0 0 0 0 0 1 0 1
IL6, LOC126859963 0 0 0 0 0 1 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 0 1
JAG1, MKKS, SLX4IP, SNAP25 1 0 0 0 0 0 0 1
JAG1, SLX4IP 0 0 1 0 0 0 0 1
LOC126859690, PKHD1 0 1 0 0 0 0 0 1
LOC126862745, MYO5B, SNHG22 0 0 0 1 0 0 0 1
LOC130062487, MYO5B 0 0 0 1 0 0 0 1
MLH1 0 0 0 0 1 0 0 1
MSH2 0 0 1 0 0 0 0 1
MYCN 0 0 1 0 0 0 0 1
NPHP4 0 0 1 0 0 0 0 1
PACERR, PTGS2 0 0 0 0 0 1 0 1
PALB2 0 0 1 0 0 0 0 1
POLD1 0 0 0 1 0 0 0 1
PTGS2 0 0 0 0 0 1 0 1
RASL12, SLC51B 0 1 0 0 0 0 0 1
SEMA7A 1 0 0 0 0 0 0 1
SLC10A1 0 0 1 0 0 0 0 1
STK11 0 0 0 1 0 0 0 1
VEGFA 0 0 0 0 0 1 0 1
WT1 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 116
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 188 25 451 670 121 0 0 1455
Fulgent Genetics, Fulgent Genetics 39 93 559 117 11 0 0 819
Gilbert/Spinner Lab, Children's Hospital of Philadelphia 0 0 0 0 0 0 486 486
Illumina Laboratory Services, Illumina 7 4 266 33 78 0 0 386
Baylor Genetics 93 100 24 0 0 0 0 216
OMIM 104 0 1 0 0 0 0 105
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 16 29 28 3 1 0 0 77
Natera, Inc. 13 5 22 20 16 0 0 76
Neuberg Centre For Genomic Medicine, NCGM 7 28 41 0 0 0 0 76
Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH 49 20 1 0 0 0 0 70
Genome-Nilou Lab 1 0 2 0 50 0 0 53
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 28 23 0 0 0 0 0 51
3billion, Medical Genetics 18 13 9 7 0 0 0 47
Mendelics 15 14 6 1 3 0 0 39
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 14 3 14 2 0 0 0 33
NIHR Bioresource Rare Diseases, University of Cambridge 5 27 1 0 0 0 0 33
The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University 23 5 0 0 0 0 0 28
Genomics And Bioinformatics Analysis Resource, Columbia University 5 8 0 0 0 0 0 13
Molecular Diagnostics Laboratory, Seoul National University Hospital 4 8 0 0 0 0 0 12
GeneReviews 0 0 0 0 0 0 11 11
Juno Genomics, Hangzhou Juno Genomics, Inc 5 2 4 0 0 0 0 11
Department of Surgery, Campus Charité Mitte | Campus Virchow-klinikum, Charite-Universitaetsmedizin Berlin 0 0 0 0 0 11 0 11
MGZ Medical Genetics Center 4 0 6 0 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 4 3 3 0 0 0 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 4 3 0 0 10
Genetics and Molecular Pathology, SA Pathology 4 1 3 1 0 0 0 9
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 3 3 0 0 0 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 4 1 0 0 0 8
MVZ Medizinische Genetik Mainz 1 4 2 0 0 0 0 7
Centogene AG - the Rare Disease Company 0 5 1 0 0 0 0 6
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 6 0 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 4 0 0 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 3 0 0 0 0 0 6
Laboratory of Molecular Diagnosis of Genetic Disease, Università degli Studi di Napoli Federico II 0 3 2 1 0 0 0 6
Hadassah Hebrew University Medical Center 0 5 0 0 0 0 0 5
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 2 0 0 0 0 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 3 0 0 0 0 5
Yale Center for Mendelian Genomics, Yale University 3 2 0 0 0 0 0 5
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 3 0 0 0 0 5
Istanbul Faculty of Medicine, Istanbul University 4 1 0 0 0 0 0 5
Revvity Omics, Revvity 1 1 2 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 3 0 0 0 0 4
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 2 1 1 0 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 2 2 0 0 0 0 4
3DMed Clinical Laboratory Inc 0 0 4 0 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 1 0 0 0 0 0 4
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 2 0 0 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 0 2 0 0 0 0 4
Institute of Human Genetics, Cologne University 0 2 1 0 0 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 3 0 0 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 2 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 1 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 0 1 0 2 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 3 0 0 0 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 3 0 0 0 0 3
Breakthrough Genomics, Breakthrough Genomics 2 1 0 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 1 0 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 0 2 0 0 0 0 0 2
Ege University Pediatric Genetics, Ege University 1 0 1 0 0 0 0 2
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 2 0 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 1 0 0 0 0 0 2
Gregorio Maranon General University Hospital, Gregorio Maranon Health Research Institute 1 1 0 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 0 2 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 2 0 0 0 2
Human Genetics Section, Sidra Medicine 0 2 0 0 0 0 0 2
Molecular Genetics Laboratory, CHU Lille 2 0 0 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 2 0 0 0 0 2
Lifecell International Pvt. Ltd 0 2 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 0 2 0 0 0 0 2
Eurofins-Biomnis 1 1 0 0 0 0 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 1 0 0 0 0 0 2
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University 1 1 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
Centre of Medical Genetics, University of Antwerp 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 1 0 0 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 1
Institute of Medical Genetics, University of Zurich 1 0 0 0 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 0 0 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 0 1
OSU Cancer Genomics Laboratory, Ohio State University Medical Center 1 0 0 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 1 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 0 0 0 0 0 1
Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics 1 0 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 0 1
Molecular Diagnostic Laboratory, Beijing Chigene Translational Medicine Research Center 1 0 0 0 0 0 0 1
UGC Analisis Clinicos, Hospital Universitario Reina Sofia de Cordoba 0 1 0 0 0 0 0 1
Credence Genomics 1 0 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 0 1
State Key Laboratory for Diagnosis & Treatment of Infectious Diseases, First Affiliated Hospital, School Of Medicine, Zhejiang University 0 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 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 1 0 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 0 1

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