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 not provided total
67 16 536 380 127 1 895

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Familial hypercholesterolemias 2 0 235 214 71 0 522
Familial hypercholesterolemia 30 7 246 116 40 0 347
Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 7 1 83 93 98 1 282
Familial hypobetalipoproteinemia 21 0 101 37 0 0 159
not specified 1 0 25 67 53 0 118
not provided 2 3 37 5 23 0 70
Hypobetalipoproteinemia, familial, 1 7 0 3 1 0 0 11
Hypercholesterolemia, autosomal dominant, type B 3 2 3 0 0 0 8
Hypobetalipoproteinemia 1 4 0 0 0 0 5
APOB-Related Disorders 0 0 3 0 0 0 3
Hypercholesterolemia 0 0 1 2 0 0 3
Hypobetalipoproteinemia, normotriglyceridemic 3 0 0 0 0 0 3
APOB POLYMORPHISM IN SIGNAL PEPTIDE 0 0 0 0 1 0 1
Inborn genetic diseases 0 0 1 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
Color 1 0 244 244 80 0 544
Invitae 12 1 82 93 98 0 286
Illumina Clinical Services Laboratory,Illumina 2 0 118 48 0 0 167
Robarts Research Institute,Western University 0 2 57 61 9 0 129
GeneDx 2 2 25 51 38 0 118
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 5 3 40 3 8 0 59
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 2 2 33 2 9 0 48
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 31 0 0 0 9 0 40
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 2 18 3 9 0 34
PreventionGenetics 0 0 0 11 23 0 34
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 5 2 22 0 30
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 14 3 7 0 24
OMIM 21 0 0 0 1 0 22
Genetic Services Laboratory, University of Chicago 1 3 5 8 0 0 17
Iberoamerican FH Network 1 0 13 0 1 0 15
Fundacion Hipercolesterolemia Familiar 1 0 8 1 0 0 10
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 6 1 2 0 9
Institute for Integrative and Experimental Genomics,University of Luebeck 0 1 0 8 0 0 9
Integrated Genetics/Laboratory Corporation of America 2 0 3 0 1 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 2 3 0 6
Blueprint Genetics, 0 1 2 1 0 0 4
Stanford Center for Inherited Cardiovascular Disease,Stanford University 1 1 2 0 0 0 4
Phosphorus, Inc. 0 0 3 1 0 0 4
GeneReviews 3 0 0 0 0 0 3
CSER_CC_NCGL; University of Washington Medical Center 0 0 1 2 0 0 3
Fulgent Genetics 1 0 1 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Athena Diagnostics Inc 1 0 0 0 0 0 1
Ambry Genetics 0 0 1 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 0 1 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 1 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 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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