ClinVar Miner

Variants in gene ABCA1

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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 total
46 23 496 667 239 1302

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 23 12 200 442 209 834
Cardiovascular phenotype 1 3 220 328 26 578
Tangier disease 17 2 79 20 41 158
Hypoalphalipoproteinemia, primary, 1 4 5 48 23 63 142
not specified 0 0 36 69 40 142
ABCA1-related disorder 3 0 1 13 10 27
Hypoalphalipoproteinemia, primary, 1; Tangier disease 0 2 14 3 2 21
Familial High Density Lipoprotein Deficiency 0 0 2 0 4 6
Hypercholesterolemia, familial, 1 0 0 2 0 0 2
ABCA1 polymorphism 0 0 0 0 1 1
ABCA1-related dyslipidemia 1 0 0 0 0 1
Breast carcinoma 0 1 0 0 0 1
Decreased HDL cholesterol concentration 0 1 0 0 0 1
Early-onset coronary artery disease 0 1 0 0 0 1
Familial hypercholesterolemia 0 0 1 0 0 1
Familial hypoalphalipoproteinemia 0 1 0 0 0 1
High myopia 0 0 1 0 0 1
Reduced delayed hypersensitivity 0 1 0 0 0 1
Symphalangism affecting the proximal phalanx of the 4th finger 0 1 0 0 0 1
Tangier disease, variant 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 21 9 146 375 94 645
Ambry Genetics 1 3 220 328 26 578
GeneDx 2 2 35 56 144 239
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 3 38 66 40 148
Illumina Laboratory Services, Illumina 4 0 75 30 67 137
Breakthrough Genomics, Breakthrough Genomics 0 0 0 29 84 113
CeGaT Center for Human Genetics Tuebingen 1 0 4 21 5 31
PreventionGenetics, part of Exact Sciences 2 0 1 13 10 26
Mayo Clinic Laboratories, Mayo Clinic 0 0 22 0 0 22
OMIM 19 0 0 0 2 21
New York Genome Center 0 2 15 0 0 17
Clinical Genetics, Academic Medical Center 0 0 2 3 9 14
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 8 1 10
Baylor Genetics 0 1 5 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 0 3 2 5
Revvity Omics, Revvity 1 0 3 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 3 1 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 2 4
Genome-Nilou Lab 0 0 0 0 4 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 2 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 0 1 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Mendelics 0 0 0 0 1 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1
Institute of Human Genetics, Polish Academy of Sciences 0 0 1 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 1 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 1
Phenosystems SA 0 1 0 0 0 1
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences 0 1 0 0 0 1

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