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
492 73 226 222 116 69 1065

Condition and significance breakdown #

Total conditions: 31
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Pulmonary hypertension, primary, 1 357 5 135 20 60 0 572
Primary pulmonary hypertension 107 9 32 177 44 0 369
Pulmonary arterial hypertension 91 41 1 0 0 0 133
not provided 35 7 31 21 27 0 118
Pulmonary arterial hypertension; Idiopathic and/or familial pulmonary arterial hypertension 0 0 0 0 0 60 60
Inborn genetic diseases 0 0 31 15 0 0 46
Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1 7 1 22 9 0 0 39
Pulmonary venoocclusive disease 1 9 1 3 1 0 0 14
BMPR2-related condition 3 0 4 4 1 0 12
Pulmonary arterial hypertension associated with congenital heart disease 6 3 4 0 0 0 12
not specified 3 0 1 2 7 0 11
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
BMPR2-related disorders 0 1 0 0 0 0 1
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, 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
Seizure; Micrognathia; Cognitive impairment; Cafe-au-lait spot; Frontal bossing; High forehead; Abnormal basal ganglia morphology; Thoracic scoliosis; Abnormal basal ganglia MRI signal intensity 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 109 9 33 178 44 0 373
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
NIHR Bioresource Rare Diseases, University of Cambridge 85 39 0 0 0 0 124
Wendy Chung Laboratory, Columbia University Medical Center 0 3 4 0 0 69 75
GeneDx 22 2 12 14 23 0 73
Ambry Genetics 0 0 31 15 0 0 46
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 19 4 9 4 7 0 43
Fulgent Genetics, Fulgent Genetics 6 1 22 9 0 0 38
OMIM 27 0 0 0 0 0 27
PreventionGenetics, part of Exact Sciences 3 0 4 5 5 0 17
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 3 0 5
CeGaT Center for Human Genetics Tuebingen 0 0 1 2 2 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
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
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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 2 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
Mendelics 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 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
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
3billion 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

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