ClinVar Miner

Variants studied for bilirubin metabolism disease

Included ClinVar conditions (24):
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 total
130 14 258 74 44 5 1 2 510

Gene and significance breakdown #

Total genes and gene combinations: 14
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association other total
ABCC2 12 1 49 16 2 0 0 0 78
ABCB11 23 2 36 9 9 0 0 0 77
SLCO1B3 2 0 46 9 6 0 0 0 63
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 29 6 21 2 3 5 0 2 56
ATP8B1, LOC100505549 2 0 31 12 10 0 0 0 55
SLCO1B1 3 0 27 17 8 0 0 0 53
ATP8B1 13 0 23 4 3 0 0 0 43
ABCB4 11 1 21 5 3 0 0 0 41
TJP2 11 2 1 0 0 0 0 0 14
VPS33B 11 1 1 0 0 0 1 0 14
VIPAS39 8 1 1 0 0 0 0 0 10
NR1H4 4 0 0 0 0 0 0 0 4
UGT1A1 1 0 0 0 0 0 0 0 1
UTP4 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association other total
Illumina Clinical Services Laboratory,Illumina 6 3 227 74 43 0 0 0 352
OMIM 82 0 1 0 0 5 0 0 83
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 23 1 0 0 0 0 0 0 24
Genetic Services Laboratory, University of Chicago 7 3 11 0 0 0 0 2 23
Fulgent Genetics 1 4 13 0 0 0 0 0 18
Genomic Research Center,Shahid Beheshti University of Medical Sciences 3 0 5 0 0 0 0 0 8
Baylor Miraca Genetics Laboratories, 5 0 0 0 0 0 0 0 5
GeneReviews 5 0 0 0 0 0 0 0 5
Ege University Pediatric Genetics,Ege University 3 0 1 0 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 4 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 2 0 0 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 1 0 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 0 0 0 0 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 1 0 0 0 0 0 2
FirmaLab 1 0 0 0 0 0 0 0 1
Mendelics 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 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 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 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 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 1
Research Center for Immunodeficiencies,Tehran University of Medical Sciences 0 0 0 0 0 0 1 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 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.