ClinVar Miner

Variants in gene CYP27A1

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
81 51 165 115 24 1 353

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cholestanol storage disease 78 42 100 106 21 1 291
not provided 30 11 91 12 6 0 141
not specified 0 0 0 3 10 0 12
Intellectual disability 0 0 4 1 0 0 5
Regression of motor development with severe dystonia and corresponding basal ganglia lesions 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 46 4 26 96 14 0 186
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 19 1 85 0 8 0 113
GeneReviews 55 0 0 0 7 0 62
Counsyl 8 23 28 1 0 0 60
Illumina Clinical Services Laboratory,Illumina 3 2 44 7 3 0 59
Natera, Inc. 10 0 15 9 4 0 38
Athena Diagnostics Inc 0 1 6 3 6 0 16
GeneDx 6 4 1 2 3 0 16
CeGaT Praxis fuer Humangenetik Tuebingen 5 2 6 2 0 0 15
OMIM 13 0 0 0 0 0 13
Myriad Women's Health, Inc. 2 8 0 0 0 0 10
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 8 1 0 0 0 0 9
Baylor Genetics 7 0 1 0 0 0 8
Mendelics 2 2 0 1 0 0 5
Fulgent Genetics,Fulgent Genetics 2 1 2 0 0 0 5
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 4 1 0 0 5
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 0 4 0 0 5
PreventionGenetics, PreventionGenetics 0 0 0 2 2 0 4
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 3 0 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 1 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 1 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
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 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
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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