ClinVar Miner

Variants in gene APOB

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
203 112 2730 2577 356 5 14 4872

Condition and significance breakdown #

Total conditions: 30
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 135 27 879 1875 297 0 1 3017
Cardiovascular phenotype 11 0 1523 1170 84 0 0 2778
not provided 31 28 751 277 83 0 0 1082
Familial hypercholesterolemia 2 9 68 248 78 0 1 393
Hypercholesterolemia, autosomal dominant, type B 14 27 221 58 37 0 3 346
Familial hypobetalipoproteinemia 1 17 24 225 31 10 0 0 295
not specified 1 1 65 161 110 0 0 272
Hypercholesterolemia, familial, 1 33 8 136 79 34 0 0 239
APOB-related disorder 5 4 39 69 5 0 0 122
Familial hypobetalipoproteinemia 21 0 0 0 0 0 0 21
Hypobetalipoproteinemia 2 9 0 0 0 0 0 11
Warfarin response 0 0 0 0 0 5 0 5
Hepatocellular carcinoma 0 0 0 0 0 0 4 4
Hypercholesterolemia 0 1 1 2 0 0 0 4
Homozygous familial hypercholesterolemia 2 1 0 0 0 0 0 3
See cases 0 1 2 0 0 0 0 3
Early-onset coronary artery disease 2 0 0 0 0 0 0 2
Autosomal semidominant APOB-related disorders 0 1 0 0 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 0 1 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 0 0 1
Familial hypercholesterolemia; Familial hypobetalipoproteinemia 1 0 0 0 0 0 0 1 1
Gastric cancer 0 0 0 0 0 0 1 1
Hypercholesterolemia, autosomal dominant, 3 0 0 1 0 0 0 0 1
Hypercholesterolemia, autosomal dominant, type B; Muscle AMP deaminase deficiency 0 0 1 0 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 0 1 1
Malignant tumor of esophagus 0 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 0 1 1
Marfanoid habitus and intellectual disability 0 0 1 0 0 0 0 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 0 1 1
Spastic ataxia 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 129
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Labcorp Genetics (formerly Invitae), Labcorp 134 16 648 1879 297 0 0 2974
Ambry Genetics 11 0 1502 1170 84 0 0 2767
GeneDx 11 8 476 77 51 0 0 623
Quest Diagnostics Nichols Institute San Juan Capistrano 6 3 209 88 74 0 0 380
GENinCode PLC 0 0 0 231 73 0 0 304
Illumina Laboratory Services, Illumina 3 2 223 75 29 0 0 268
Fulgent Genetics, Fulgent Genetics 9 4 222 14 0 0 0 249
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 1 2 61 90 45 0 0 199
CeGaT Center for Human Genetics Tuebingen 13 5 29 125 8 0 0 180
PreventionGenetics, part of Exact Sciences 5 4 39 80 28 0 0 156
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 3 39 61 42 0 0 147
Mayo Clinic Laboratories, Mayo Clinic 5 3 50 32 50 0 0 140
Robarts Research Institute, Western University 2 0 51 64 12 0 0 129
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 1 40 32 6 0 0 87
Clinical Genetics, Academic Medical Center 1 0 7 16 62 0 0 86
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 1 52 5 2 0 0 60
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 5 3 40 3 8 0 0 59
Color Diagnostics, LLC DBA Color Health 2 0 3 19 33 0 0 57
New York Genome Center 4 1 51 0 0 0 0 56
Breakthrough Genomics, Breakthrough Genomics 0 0 13 32 8 0 0 53
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 4 21 27 0 0 53
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 6 17 14 10 0 0 50
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 2 2 33 2 9 0 0 48
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 5 29 6 0 0 40
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 31 0 0 0 9 0 0 40
Department of Pathology and Laboratory Medicine, Sinai Health System 1 2 27 1 1 0 0 32
Revvity Omics, Revvity 7 8 15 0 0 0 0 30
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 14 3 7 0 0 24
Institute of Human Genetics, University of Leipzig Medical Center 3 3 16 1 0 0 0 23
OMIM 21 0 0 0 0 0 0 21
Genetic Services Laboratory, University of Chicago 2 3 4 9 2 0 0 20
Cohesion Phenomics 0 0 0 6 11 0 0 17
Mendelics 5 2 5 0 4 0 0 16
Iberoamerican FH Network 1 0 13 0 1 0 0 15
Juno Genomics, Hangzhou Juno Genomics, Inc 4 9 0 0 0 0 0 13
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 3 8 0 0 0 0 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 3 5 2 0 0 11
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 3 6 0 0 0 0 11
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 7 0 0 0 0 10
AiLife Diagnostics, AiLife Diagnostics 2 0 7 0 0 0 0 9
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 9 9
Eurofins Ntd Llc (ga) 0 0 6 1 2 0 0 9
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 2 6 0 0 0 0 9
Institute for Integrative and Experimental Genomics, University of Luebeck 0 1 0 8 0 0 0 9
Phosphorus, Inc. 0 0 6 2 0 0 0 8
Baylor Genetics 3 1 3 0 0 0 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 3 1 1 0 0 0 7
Genome-Nilou Lab 0 0 0 0 7 0 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 2 3 0 0 6
Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham 0 0 3 2 0 0 0 5
Pharmacogenomics Lab, Chungbuk National University 0 0 0 0 0 5 0 5
Variantyx, Inc. 1 4 0 0 0 0 0 5
Blueprint Genetics 0 1 2 1 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 3 0 0 0 0 4
Dasa 3 1 0 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 1 0 2 0 1 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 0 0 0 4
Institute of Immunology and Genetics Kaiserslautern 2 1 1 0 0 0 0 4
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 1 0 3 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 1 0 0 0 0 0 4
Stanford Center for Inherited Cardiovascular Disease, Stanford University 1 1 2 0 0 0 0 4
3billion 2 1 0 0 0 0 0 3
All of Us Research Program, National Institutes of Health 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
CSER _CC_NCGL, University of Washington 0 0 1 2 0 0 0 3
Centre of Medical Genetics, University Hospital Muenster 0 1 2 0 0 0 0 3
Clinical Genetics Laboratory, Region Ostergotland 2 1 0 0 0 0 0 3
GeneReviews 0 0 0 0 0 0 3 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 2 0 0 0 0 3
Institute of Human Genetics, Heidelberg University 1 2 0 0 0 0 0 3
Kazan State Medical University, Kazan State Medical University 0 1 2 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 1 0 0 0 0 3
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 2 1 0 0 0 0 3
MGZ Medical Genetics Center 1 0 2 0 0 0 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 1 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 2 0 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Institute of Human Genetics Munich, TUM University Hospital 2 0 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 2 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 0 2
MVZ Medizinische Genetik Mainz 1 0 1 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 0 2
Arcensus 0 1 0 0 0 0 0 1
Athena Diagnostics 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 0 1 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
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 0 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 0 1
Division of Medical Genetics, University of Washington 1 0 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 0 1
GBinsight Genetic Testing by GB HealthWatch, Genben Lifesciences Corporation 0 1 0 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 1 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 1 0 0 0 0 0 1
Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald 1 0 0 0 0 0 0 1
Institute of Human Genetics, Medical University Innsbruck 0 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 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
Lildballe Lab, Aarhus University Hospital 0 1 0 0 0 0 0 1
Medical Molecular Genetics Department, National Research Center 0 1 0 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 0 1 0 0 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 1 0 0 0 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 0 1
Research Laboratories, P. D. Hinduja Hospital & MRC 1 0 0 0 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 0 1
Suma Genomics 0 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1
deCODE genetics, Amgen 0 1 0 0 0 0 0 1

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