ClinVar Miner

Variants studied for bile acid synthesis defect with cholestasis and malabsorption

Included ClinVar conditions (13):
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
109 47 291 144 77 1 610

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CYP27A1 78 42 100 106 21 1 291
AKR1D1 7 2 69 11 20 0 109
BAAT 0 0 49 10 22 0 81
AMACR, C1QTNF3-AMACR 2 0 56 11 11 0 78
CYP7B1 2 0 9 0 0 0 11
AMACR, C1QTNF3-AMACR, SLC45A2 0 0 0 6 3 0 9
​intergenic 7 0 0 0 0 0 7
HSD3B7 6 0 1 0 0 0 7
TJP2 1 3 2 0 0 0 6
ACOX2 2 0 2 0 0 0 4
EPHX1 0 0 3 0 0 0 3
SLC10A1 3 0 0 0 0 0 3
ABCD3 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 4 2 211 44 58 0 319
Invitae 46 4 31 95 18 0 194
GeneReviews 62 0 0 0 7 0 69
Counsyl 8 23 28 1 0 0 60
Natera, Inc. 10 0 15 9 4 0 38
OMIM 34 0 2 0 0 0 36
Baylor Genetics 8 0 13 0 0 0 21
Mendelics 2 3 2 1 2 0 10
Myriad Women's Health, Inc. 2 8 0 0 0 0 10
Fulgent Genetics,Fulgent Genetics 2 2 5 0 0 0 9
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 0 4 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 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
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 1 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 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

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