ClinVar Miner

Variants in gene BMPR2

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Minimum submission review status: Collection method:
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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
516 100 597 366 122 69 1528

Condition and significance breakdown #

Total conditions: 30
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Pulmonary hypertension, primary, 1 360 6 140 20 60 0 581
Inborn genetic diseases 0 0 315 173 0 0 488
Primary pulmonary hypertension 129 12 40 213 49 0 443
Pulmonary arterial hypertension 97 58 33 15 4 0 198
not provided 40 7 50 25 40 0 156
Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1 10 8 120 10 0 0 148
Pulmonary arterial hypertension; Idiopathic and/or familial pulmonary arterial hypertension 0 0 0 0 0 60 60
BMPR2-related disorder 5 1 5 5 1 0 17
Pulmonary venoocclusive disease 1 9 1 3 1 0 0 14
Pulmonary arterial hypertension associated with congenital heart disease 6 3 4 0 0 0 12
not specified 3 0 2 2 7 0 12
Genetic non-acquired premature ovarian failure 1 4 0 0 0 0 5
Pulmonary arterial hypertension; Pulmonary arterial hypertension associated with another disease; Pulmonary arterial hypertension associated with connective tissue disease 0 0 0 0 0 3 3
Pulmonary hypertension, primary, dexfenfluramine-associated 3 0 0 0 0 0 3
Idiopathic and/or familial pulmonary arterial hypertension 1 1 0 0 0 0 2
Tooth agenesis, selective, 1 0 2 0 0 0 0 2
Developmental disorder 0 0 0 1 0 0 1
Familial pulmonary capillary hemangiomatosis 0 0 1 0 0 0 1
Progressive myositis ossificans 1 0 0 0 0 0 1
Pulmonary arterial hypertension associated with another disease 0 0 0 0 0 1 1
Pulmonary arterial hypertension; Drug- or toxin-induced pulmonary arterial hypertension 0 0 0 0 0 1 1
Pulmonary arterial hypertension; Drug- or toxin-induced pulmonary arterial hypertension; Pulmonary arterial hypertension associated with another disease 0 0 0 0 0 1 1
Pulmonary arterial hypertension; Mitral valve prolapse; Right ventricular hypertrophy; Pulmonary artery dilatation; Right ventricular dilatation; Elevated right atrial pressure; Increased pulmonary vascular resistance; Right bundle branch block 0 0 1 0 0 0 1
Pulmonary arterial hypertension; Pulmonary arterial hypertension associated with another disease 0 0 0 0 0 1 1
Pulmonary arterial hypertension; Pulmonary arterial hypertension associated with another disease; Pulmonary arterial hypertension associated with HIV infection 0 0 0 0 0 1 1
Pulmonary arterial hypertension; Pulmonary arterial hypertension associated with congenital heart disease; Pulmonary arterial hypertension associated with another disease 0 0 0 0 0 1 1
Pulmonary hypertension 1 0 0 0 0 0 1
Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia 1 0 0 0 0 0 1
Pulmonary hypertension, primary, fenfluramine-associated 1 0 0 0 0 0 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 0 0 315 173 0 0 488
Labcorp Genetics (formerly Invitae), Labcorp 131 12 41 214 49 0 447
Rare Disease Genomics Group, St George's University of London 347 0 15 0 0 0 362
Illumina Laboratory Services, Illumina 0 0 111 20 60 0 191
Fulgent Genetics, Fulgent Genetics 8 7 117 10 0 0 142
NIHR Bioresource Rare Diseases, University of Cambridge 85 39 0 0 0 0 124
GeneDx 25 2 21 14 23 0 85
Wendy Chung Laboratory, Boston Children's Hospital 0 3 4 0 0 69 75
Clingen Pulmonary Hypertension Variant Curation Expert Panel, ClinGen 12 17 28 15 3 0 75
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 21 4 13 6 7 0 51
OMIM 27 0 0 0 0 0 27
Breakthrough Genomics, Breakthrough Genomics 0 0 1 5 18 0 24
PreventionGenetics, part of Exact Sciences 4 0 5 6 5 0 20
CeGaT Center for Human Genetics Tuebingen 1 0 2 4 2 0 9
Juno Genomics, Hangzhou Juno Genomics, Inc 4 2 3 0 0 0 9
Center for Genomic Medicine, Kyoto University Graduate School of Medicine 7 1 0 0 0 0 8
John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine 7 0 0 0 0 0 7
Mayo Clinic Laboratories, Mayo Clinic 0 0 6 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 6 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 3 0 5
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University 1 4 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 3 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 0 0 3 1 0 0 4
Pharmacogenomics Laboratory, Instituto de Medicina Experimental, CONICET-Academia Nacional de Medicina 3 0 1 0 0 0 4
Baylor Genetics 1 0 2 0 0 0 3
Institute of Human Genetics, University of Wuerzburg 0 2 1 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 1 0 0 0 2
Revvity Omics, Revvity 0 1 1 0 0 0 2
Institute of Human Genetics, Cologne University 1 1 0 0 0 0 2
Clinical Genetics, Academic Medical Center 0 0 0 0 2 0 2
Eurofins Ntd Llc (ga) 1 0 1 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 0 2
Blueprint Genetics 1 1 0 0 0 0 2
Department of Prosthodontics, Peking University School and Hospital of Stomatology 0 2 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 2 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 2
3billion 1 0 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 0 1
Mendelics 0 0 1 0 0 0 1
ISCA site 1 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Laboratory of Genetic Skeletal Anomaly, Seoul National University Children's Hospital 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
UF D’onco_angiogenetique Et Genomique Des Tumeurs Solides, APHP Sorbonne Universite Hopital Pitie Salpetriere 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1

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