ClinVar Miner

Variants in gene BMPR2

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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
390 7 86 61 15 546

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Primary pulmonary hypertension 368 3 74 59 14 510
not provided 18 1 7 0 0 25
Pulmonary arterial hypertension associated with congenital heart disease 6 3 4 0 0 12
not specified 4 0 1 1 4 10
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
Primary pulmonary hypertension; Pulmonary veno-occlusive disease 2 0 0 0 0 2
Idiopathic and/or familial pulmonary arterial hypertension 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
Pulmonary veno-occlusive disease 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: 22
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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 54 55 10 119
Invitae 15 1 5 5 4 30
OMIM 27 0 0 0 0 27
GeneDx 16 1 1 0 2 20
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 7 0 2 0 3 12
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 0 1 0 3 5
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 2 0 0 0 0 2
Blueprint Genetics, 1 1 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, Inc. 1 0 0 0 0 1
Mayo Clinic Genetic Testing 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 1

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