ClinVar Miner

Variants studied for bilirubin metabolism disease

Included ClinVar conditions (39):
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 affects association other not provided total
337 234 767 130 219 5 1 1 6 1581

Gene and significance breakdown #

Total genes and gene combinations: 32
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association other not provided total
ABCB11 80 81 121 27 36 0 0 0 0 317
ATP8B1 38 39 115 12 40 0 0 0 6 237
ABCC2 19 10 97 13 25 0 0 0 0 157
SLCO1B3, SLCO1B3-SLCO1B7 5 0 100 19 25 0 0 0 0 137
ABCB4 33 29 60 6 16 0 0 0 0 135
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 45 18 65 9 9 5 0 1 0 120
SLCO1B1 4 0 78 18 28 0 0 0 0 118
VPS33B 17 7 40 8 14 0 1 0 0 87
TJP2 32 16 13 1 8 0 0 0 0 67
UTP4 0 0 28 4 8 0 0 0 0 39
USP53 10 13 5 0 0 0 0 0 0 28
VIPAS39 11 4 5 2 0 0 0 0 0 22
ABCB11, LOC126806400 6 6 8 1 0 0 0 0 0 19
MYO5B 11 0 4 3 1 0 0 0 0 19
NR1H4 4 4 4 0 0 0 0 0 0 12
ABCC2, LOC108281165 0 0 7 1 1 0 0 0 0 9
SLCO1B3 2 0 3 1 3 0 0 0 0 9
KIF12 4 4 2 0 0 0 0 0 0 8
ZFYVE19 6 0 2 0 0 0 0 0 0 8
ABCC2, LOC126861012 0 0 2 3 2 0 0 0 0 7
ABCC2, LOC126861013 1 2 3 0 1 0 0 0 0 7
ATP8B1, LOC126862761 2 0 2 0 0 0 0 0 0 4
ABCB4, LOC129998756 0 0 0 0 2 0 0 0 0 2
FBN1 1 0 1 0 0 0 0 0 0 2
MYO5B, SNHG22 0 0 0 2 0 0 0 0 0 2
SLC51A 1 0 1 0 0 0 0 0 0 2
SLCO1B1, SLCO1B3, SLCO1B7 1 1 0 0 0 0 0 0 0 2
ABCB4, LOC129998757 0 0 1 0 0 0 0 0 0 1
ATP8B1, LOC126862761, LOC126862762, LOC129390999 1 0 0 0 0 0 0 0 0 1
F12 1 0 0 0 0 0 0 0 0 1
SEMA7A 1 0 0 0 0 0 0 0 0 1
UGT1A1 1 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 88
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association other not provided total
Illumina Laboratory Services, Illumina 7 4 531 76 171 0 0 0 0 780
Baylor Genetics 81 72 26 0 0 0 0 0 0 178
OMIM 117 0 1 0 0 5 0 0 0 118
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 6 0 34 28 23 0 0 0 0 91
Fulgent Genetics, Fulgent Genetics 6 8 46 12 5 0 0 0 0 77
Natera, Inc. 13 5 22 20 16 0 0 0 0 76
Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH 49 20 1 0 0 0 0 0 0 70
Genome-Nilou Lab 1 0 2 0 53 0 0 0 0 56
3billion 23 13 11 0 0 0 0 0 0 47
Revvity Omics, Revvity 4 5 37 0 0 0 0 0 0 46
Mendelics 15 17 7 0 4 0 0 0 0 43
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 10 16 16 0 0 0 0 0 0 42
Neuberg Centre For Genomic Medicine, NCGM 4 16 20 0 0 0 0 0 0 40
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 19 15 0 0 0 0 0 0 0 34
Genetic Services Laboratory, University of Chicago 7 3 11 0 0 0 0 1 0 22
The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University 14 3 0 0 0 0 0 0 0 17
Difficult and Complicated Liver Diseases and Artificial Liver Center, Beijing You An Hospital, Capital Medical University 7 0 0 1 6 0 0 0 0 14
MGZ Medical Genetics Center 3 0 7 0 0 0 0 0 0 10
Genetics and Molecular Pathology, SA Pathology 4 2 3 0 0 0 0 0 0 9
Centogene AG - the Rare Disease Company 3 4 1 0 0 0 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 0 5 0 0 0 0 0 0 8
Genomics And Bioinformatics Analysis Resource, Columbia University 4 4 0 0 0 0 0 0 0 8
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 4 3 0 0 0 0 0 0 0 7
Neonatal Research Center, Shiraz University of Medical Science 6 1 0 0 0 0 0 0 0 7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 2 2 0 0 0 0 0 0 7
Department of Gastroenterology, Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine 2 2 3 0 0 0 0 0 0 7
Molecular Diagnostics Laboratory, Seoul National University Hospital 2 4 0 0 0 0 0 0 0 6
GeneReviews 0 0 0 0 0 0 0 0 6 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 3 1 0 0 0 0 0 6
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 2 0 3 1 0 0 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 2 1 0 0 0 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 3 0 0 0 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 1 2 0 0 0 0 0 0 5
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 2 0 0 0 0 0 0 0 4
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 2 1 1 0 0 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 2 0 0 0 0 0 0 4
Ege University Pediatric Genetics, Ege University 3 0 1 0 0 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 0 0 0 4
Hadassah Hebrew University Medical Center 0 3 0 0 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 2 0 0 0 0 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 3 0 0 0 0 0 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 1 0 0 0 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 0 2 0 0 0 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 0 0 0 2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 2 0 0 0 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 0 0 2 0 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 1 0 0 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 0 0 0 2
Molecular Genetics Laboratory, CHU Lille 2 0 0 0 0 0 0 0 0 2
Lifecell International Pvt. Ltd 0 2 0 0 0 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 1 0 0 0 0 0 0 2
Immunology and Liver Gene Transfer, Genethon 2 0 0 0 0 0 0 0 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 1 0 0 0 0 0 0 0 2
FirmaLab, FirmaLab 1 0 0 0 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 1 0 0 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 0 0 0 1
Department of Pediatrics, 1st Faculty of Medicine, Charles University in Prague 1 0 0 0 0 0 0 0 0 1
Research Center for Immunodeficiencies, Tehran University of Medical Sciences 0 0 0 0 0 0 1 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 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 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 1 0 0 0 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 0 0 0 1
Jianshe Wang Lab, Department of Pediatrics, Jinshan Hospital of Fudan University 1 0 0 0 0 0 0 0 0 1
Genesis Genoma Lab, Genesis Genoma Lab 0 0 1 0 0 0 0 0 0 1
Human Genetics Section, Sidra Medicine 0 1 0 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 0 0 0 1
Liver Center, Tokai University School of Medicine 1 0 0 0 0 0 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 1 0 0 0 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 0 0 0 0 1
UGC Analisis Clinicos, Hospital Universitario Reina Sofia de Cordoba 0 1 0 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 1 0 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 0 0 0 1

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