ClinVar Miner

Variants studied for biliary tract disease

Included ClinVar conditions (57):
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
348 142 921 309 287 5 1916

Gene and significance breakdown #

Total genes and gene combinations: 48
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
JAG1 97 17 176 80 20 0 386
CYP27A1 78 42 100 106 21 1 291
SEC63 8 1 102 20 58 0 186
ABCB11 20 14 97 15 26 0 163
ABCB4 28 28 56 7 15 0 118
AKR1D1 7 2 69 11 20 0 109
ATP8B1, LOC100505549 3 3 67 6 25 0 104
BAAT 0 0 49 10 22 0 81
PRKCSH 9 1 25 12 33 0 79
AMACR, C1QTNF3-AMACR 2 0 56 11 11 0 78
ATP8B1 13 2 45 5 9 0 71
UTP4 0 0 28 4 8 0 39
TJP2 23 10 3 0 0 0 36
DCDC2 5 2 10 8 5 0 30
NOTCH2 5 3 11 0 0 0 19
CYP7B1 2 0 9 0 0 0 11
USP53 8 2 0 0 0 0 10
AMACR, C1QTNF3-AMACR, SLC45A2 0 0 0 6 3 0 9
​intergenic 8 0 0 0 0 0 8
GANAB 5 3 0 0 0 0 8
ODAD3, PRKCSH 0 0 3 2 3 0 8
PKHD1 0 8 0 0 0 0 8
HSD3B7 6 0 1 0 0 0 7
PKD1 2 0 1 2 1 0 6
ALG9 1 0 0 0 4 0 5
DCDC2, KAAG1 2 0 0 2 1 0 5
NR1H4 4 1 0 0 0 0 5
ACOX2 2 0 2 0 0 0 4
APC 0 0 4 0 0 0 4
LRP5 0 0 0 0 0 4 4
SLC10A1 3 0 1 0 0 0 4
EPHX1 0 0 3 0 0 0 3
CLDN1, CLDN16 2 0 0 0 0 0 2
ABCD3 1 0 0 0 0 0 1
ATM 0 0 0 0 1 0 1
CLDN1 1 0 0 0 0 0 1
FBN1 0 1 0 0 0 0 1
JAG1, LOC112694687, LOC112694688, 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
MLH1 0 0 0 0 1 0 1
MSH2 0 0 1 0 0 0 1
PALB2 0 0 1 0 0 0 1
PKD2 1 0 0 0 0 0 1
POLD1 0 0 0 1 0 0 1
RASL12, SLC51B 0 1 0 0 0 0 1
STK11 0 0 0 1 0 0 1
TTC26 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 68
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 8 4 604 110 229 0 952
Invitae 122 14 201 181 44 0 562
OMIM 111 0 3 0 0 0 114
Natera, Inc. 11 1 34 17 18 0 81
GeneReviews 72 0 0 0 7 0 79
Baylor Genetics 26 3 31 0 0 0 60
Counsyl 8 23 28 1 0 0 60
Mendelics 10 13 8 2 6 0 39
NIHR Bioresource Rare Diseases, University of Cambridge 5 27 1 0 0 0 33
The Center for Liver Diseases, Children's Hospital of Fudan University 18 5 0 0 0 0 23
Fulgent Genetics,Fulgent Genetics 4 3 15 0 0 0 22
Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center 7 3 0 0 0 4 14
Genomic Research Center, Shahid Beheshti University of Medical Sciences 6 0 4 1 0 0 11
Centre for Mendelian Genomics,University Medical Centre Ljubljana 5 2 4 0 0 0 11
Yale Center for Mendelian Genomics,Yale University 2 8 0 0 0 0 10
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 4 3 0 10
Myriad Women's Health, Inc. 2 8 0 0 0 0 10
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 3 3 0 0 0 9
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 3 3 1 0 0 0 7
Centogene AG - the Rare Disease Company 1 5 0 0 0 0 6
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 0 4 1 0 6
Hadassah Hebrew University Medical Center 0 5 0 0 0 0 5
Stefan Somlo Laboratory,Yale School of Medicine 1 0 0 0 4 0 5
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 2 0 2 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 1 0 0 4
3DMed Clinical Laboratory Inc 0 0 4 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 1 0 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 3 0 0 0 0 0 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 1 0 0 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 1 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 0 1 0 2 0 3
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 3 0 0 0 0 0 3
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 3 0 0 0 0 0 3
Elsea Laboratory,Baylor College of Medicine 0 2 0 0 0 0 2
Institute of Human Genetics,Cologne University 0 1 1 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 2 0 0 0 0 0 2
Ege University Pediatric Genetics,Ege University 1 0 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 1 0 2
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 2 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 1 0 0 0 2
Gregorio Maranon General University Hospital,Gregorio Maranon Health Research Institute 1 1 0 0 0 0 2
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 0 0 0 1
Molecular Genetics Department,Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 1 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 0 0 0 0 1
The Raphael Recanati Genetics Institute,Rabin Medical Center 0 0 1 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 1
Clinical Genetics, Amsterdam Medical Centre 0 0 0 1 0 0 1
OSU Cancer Genomics Laboratory, Ohio State University Medical Center 1 0 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 1 0 0 0 0 0 1
Nilou-Genome Lab 0 0 0 0 1 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

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