ClinVar Miner

Variants in gene BMPR2

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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 not provided total
529 112 988 565 125 89 2137

Condition and significance breakdown #

Total conditions: 43
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Inborn genetic diseases 0 0 720 366 0 0 1086
Pulmonary hypertension, primary, 1 360 8 132 17 58 0 570
Primary pulmonary hypertension 154 14 52 249 54 0 523
Pulmonary arterial hypertension 101 65 31 13 4 0 204
not provided 44 8 59 31 40 0 174
Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1 12 8 120 10 0 0 150
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 2 3 2 0 0 16
not specified 3 0 3 3 7 0 14
Pulmonary arterial hypertension associated with congenital heart disease 6 3 4 0 0 0 12
Genetic non-acquired premature ovarian failure 1 4 0 0 0 0 5
Ovarian serous cystadenocarcinoma 0 0 0 0 0 5 5
Acute myeloid leukemia 0 0 0 0 0 3 3
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
Familial cancer of breast 0 0 0 0 0 2 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Idiopathic and/or familial pulmonary arterial hypertension 1 1 0 0 0 0 2
Lung cancer 0 0 0 0 0 2 2
Papillary renal cell carcinoma type 1 0 0 0 0 0 2 2
Squamous cell lung carcinoma 0 0 0 0 0 2 2
Tooth agenesis, selective, 1 0 2 0 0 0 0 2
Cervical cancer 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Developmental disorder 0 0 0 1 0 0 1
Familial pulmonary capillary hemangiomatosis 0 0 1 0 0 0 1
Gastric cancer 0 0 0 0 0 1 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 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; Complete 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
Sarcoma 0 0 0 0 0 1 1
See cases 0 0 1 0 0 0 1
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 71
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 0 0 720 366 0 0 1086
Labcorp Genetics (formerly Invitae), Labcorp 156 14 53 250 54 0 527
Rare Disease Genomics Group, St George's University of London 347 0 15 0 0 0 362
Illumina Laboratory Services, Illumina 0 0 101 16 58 0 175
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 28 2 25 14 23 0 92
Clingen Pulmonary Hypertension Variant Curation Expert Panel, ClinGen 16 26 26 13 3 0 84
Wendy Chung Laboratory, Boston Children's Hospital 0 3 4 0 0 69 75
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 22 4 14 8 7 0 55
OMIM 27 0 0 0 0 0 27
Breakthrough Genomics, Breakthrough Genomics 0 0 1 5 18 0 24
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 20 20
PreventionGenetics, part of Exact Sciences 4 0 5 6 5 0 20
Mayo Clinic Laboratories, Mayo Clinic 0 1 7 5 3 0 16
Juno Genomics, Hangzhou Juno Genomics, Inc 6 2 3 0 0 0 11
CeGaT Center for Human Genetics Tuebingen 1 0 3 4 2 0 10
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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 6 0 0 0 6
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University 1 4 0 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 2 0 1 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 3 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 4 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 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
Revvity Omics, Revvity 1 1 1 0 0 0 3
3billion 1 0 1 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 2
Blueprint Genetics 1 1 0 0 0 0 2
Centre for Medical Genetics, Mumbai 0 0 0 2 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 2 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 1 0 0 0 2
Clinical Genetics, Academic Medical Center 0 0 0 0 2 0 2
Department of Prosthodontics, Peking University School and Hospital of Stomatology 0 2 0 0 0 0 2
Eurofins Ntd Llc (ga) 1 0 1 0 0 0 2
Institute of Human Genetics, Cologne University 1 1 0 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Dasa 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Dubai Health Genomic Medicine Center, Dubai Health 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
ISCA site 1 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
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Laboratory of Genetic Skeletal Anomaly, Seoul National University Children's Hospital 1 0 0 0 0 0 1
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 1 0 0 1
MVZ Martinsried, Medicover Genetics 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1
Medical Genetics and Prenatal Diagnosis Center, Guangxi Academy of Medical Sciences and the People’s Hospital of Guangxi Zhuang Autonomous Region 1 0 0 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 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

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