ClinVar Miner

Variants in gene BMPR2

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 total
462 57 159 55 67 768

Condition and significance breakdown #

Total conditions: 18
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Primary pulmonary hypertension 1 378 4 138 30 61 603
Pulmonary arterial hypertension 87 41 0 0 0 127
Primary pulmonary hypertension 35 4 7 19 0 65
not provided 18 1 8 10 5 41
none provided 11 4 5 1 3 24
not specified 5 0 1 2 6 13
Pulmonary arterial hypertension associated with congenital heart disease 6 3 4 0 0 12
Pulmonary venoocclusive disease 1 5 0 0 0 0 5
See cases 2 0 1 1 0 4
Pulmonary hypertension, primary, dexfenfluramine-associated 3 0 0 0 0 3
Pulmonary venoocclusive disease 1, autosomal dominant 1 0 2 0 0 3
Idiopathic and/or familial pulmonary arterial hypertension 1 1 0 0 0 2
Primary pulmonary hypertension 1; Pulmonary venoocclusive disease 1, autosomal dominant 2 0 0 0 0 2
Progressive myositis ossificans 1 0 0 0 0 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 1
Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia 1 0 0 0 0 1
Pulmonary hypertension, primary, fenfluramine-associated 1 0 0 0 0 1
Seizures; Micrognathia; Cognitive impairment; Cafe-au-lait spot; Frontal bossing; High forehead; Abnormality of the basal ganglia; Thoracic scoliosis; Abnormal basal ganglia MRI signal intensity 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 28
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Medical & Molecular Genetics Group,University of Lincoln 360 0 15 0 0 375
Illumina Clinical Services Laboratory,Illumina 0 0 114 22 60 196
NIHR Bioresource Rare Diseases, University of Cambridge 87 41 0 0 0 127
Invitae 51 5 14 29 11 110
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 17 4 8 2 5 36
OMIM 27 0 0 0 0 27
GeneDx 16 1 1 0 5 23
Center for Genomic Medicine,Kyoto University Graduate School of Medicine 7 1 0 0 0 8
Wendy Chung Laboratory,Columbia University Medical Center 0 3 4 0 0 7
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 0 0 3 5
PreventionGenetics, PreventionGenetics 0 0 0 1 4 5
ISCA site 1 1 0 1 1 0 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 1 0 0 2
Fulgent Genetics,Fulgent Genetics 2 0 0 0 0 2
Blueprint Genetics 1 1 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 1 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Laboratory of Genetic Skeletal Anomaly,Seoul National University Children's Hospital 1 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.