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
70 30 601 503 139 5 1 1067

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Familial hypercholesterolemia 2 0 235 214 71 0 0 522
not provided 2 5 109 237 110 0 0 409
Familial hypercholesterolemia 1 31 6 245 116 41 0 0 349
Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 9 1 116 38 13 0 1 178
Familial hypobetalipoproteinemia 21 0 101 37 0 0 0 159
not specified 1 0 25 67 53 0 0 118
Hypobetalipoproteinemia, familial, 1 8 11 3 1 0 0 0 23
Familial hypercholesterolemia 2 3 3 4 0 0 0 0 10
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
Familial hypercholesterolemia - homozygous 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 dilated cardiomyopathy 0 0 0 1 0 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

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Color 1 0 244 244 80 0 0 544
Invitae 14 1 116 246 112 0 0 489
Illumina Clinical Services Laboratory,Illumina 2 0 118 48 0 0 0 167
Robarts Research Institute,Western University 2 0 51 64 12 0 0 129
GeneDx 2 2 25 61 38 0 0 128
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 56 24 0 0 0 82
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 20 14 44 0 0 79
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 5 3 40 3 8 0 0 59
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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 14 3 7 0 0 24
OMIM 21 0 0 0 1 0 0 22
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 1 10 5 1 0 0 18
Genetic Services Laboratory, University of Chicago 1 3 5 8 0 0 0 17
Iberoamerican FH Network 1 0 13 0 1 0 0 15
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
Integrated Genetics/Laboratory Corporation of America 2 0 3 0 1 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 2 3 0 0 6
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
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
Fulgent Genetics,Fulgent Genetics 1 0 1 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 0 1
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
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 0 1

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