ClinVar Miner

Variants in gene APOB

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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 drug response not provided total
84 38 1401 873 149 5 1 2150

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Familial hypercholesterolemia 2 1 912 618 78 0 0 1610
Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 30 3 288 247 107 0 1 675
not provided 3 6 154 160 50 0 0 348
Familial hypercholesterolemia 2 4 4 188 57 30 0 0 281
Familial hypercholesterolemia 1 32 8 164 92 41 0 0 277
Hypobetalipoproteinemia, familial, 1 9 16 221 27 3 0 0 272
not specified 1 0 26 82 59 0 0 138
Familial hypobetalipoproteinemia 21 0 26 1 0 0 0 48
Hypobetalipoproteinemia 1 5 0 0 0 0 0 6
Warfarin response 0 0 0 0 0 5 0 5
APOB-Related Disorders 0 0 3 0 0 0 0 3
Homozygous familial hypercholesterolemia 2 1 0 0 0 0 0 3
Hypercholesterolemia 0 0 1 2 0 0 0 3
Hypobetalipoproteinemia, normotriglyceridemic 3 0 0 0 0 0 0 3
APOB POLYMORPHISM IN SIGNAL PEPTIDE 0 0 0 0 1 0 0 1
Familial hypercholesterolemia 3 0 0 1 0 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 0 1
Marfanoid habitus and intellectual disability 0 0 1 0 0 0 0 1
Primary familial dilated cardiomyopathy 0 0 0 1 0 0 0 1
none provided 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Color Health, Inc 2 0 915 648 87 0 0 1627
Invitae 30 3 288 302 112 0 0 735
Illumina Clinical Services Laboratory,Illumina 2 0 257 77 30 0 0 300
Robarts Research Institute,Western University 2 0 51 64 12 0 0 129
GeneDx 2 2 25 61 38 0 0 128
Quest Diagnostics Nichols Institute San Juan Capistrano 1 1 41 22 47 0 0 112
CeGaT Praxis fuer Humangenetik Tuebingen 1 2 67 41 0 0 0 111
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 5 3 40 3 8 0 0 59
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 2 28 17 5 0 0 53
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 2 2 33 2 9 0 0 48
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 31 0 0 0 9 0 0 40
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 2 18 3 9 0 0 34
PreventionGenetics, PreventionGenetics 0 0 0 11 23 0 0 34
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 14 3 7 0 0 24
OMIM 21 0 0 0 1 0 0 22
Genetic Services Laboratory, University of Chicago 1 3 4 8 1 0 0 17
Institute of Human Genetics, University of Leipzig Medical Center 1 2 11 1 0 0 0 15
Iberoamerican FH Network 1 0 13 0 1 0 0 15
Integrated Genetics/Laboratory Corporation of America 2 0 4 6 1 0 0 13
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 12 1 0 0 0 13
Metabolic Liver Diseases Lab,Fondazione IRCCS Ca Granda Policlinico, University of Milan 0 11 0 0 0 0 0 11
Fundacion Hipercolesterolemia Familiar 1 0 8 1 0 0 0 10
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 6 1 2 0 0 9
Institute for Integrative and Experimental Genomics,University of Luebeck 0 1 0 8 0 0 0 9
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 6 0 0 0 0 7
Broad Institute Rare Disease Group, Broad Institute 2 3 1 1 0 0 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 2 3 0 0 6
Baylor Genetics 2 0 3 0 0 0 0 5
Mendelics 0 1 1 0 3 0 0 5
Pharmacogenomics Lab,Chungbuk National University 0 0 0 0 0 5 0 5
Blueprint Genetics 0 1 2 1 0 0 0 4
Stanford Center for Inherited Cardiovascular Disease, Stanford University 1 1 2 0 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 3 0 0 0 0 4
Phosphorus, Inc. 0 0 3 1 0 0 0 4
GeneReviews 3 0 0 0 0 0 0 3
CSER _CC_NCGL, University of Washington 0 0 1 2 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 1 0 0 0 0 3
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia 2 1 0 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 1 0 1 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 0 2
Athena Diagnostics Inc 1 0 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 1 0 0 1
Ambry Genetics 0 0 1 0 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 1
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 0 1
GBinsight Genetic Testing by GB HealthWatch,Genben Lifesciences Corporation 0 1 0 0 0 0 0 1
Division of Medical Genetics, University of Washington 1 0 0 0 0 0 0 1
Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicine 0 1 0 0 0 0 0 1

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