ClinVar Miner

Variants in gene BMPR1A

See also:
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 not provided total
242 102 1300 928 483 51 2597

Condition and significance breakdown #

Total conditions: 22
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Juvenile polyposis syndrome 184 45 903 678 345 1 1892
Hereditary cancer-predisposing syndrome 103 35 800 484 69 0 1390
not provided 19 20 229 92 103 1 437
not specified 0 0 78 140 26 5 221
Polyposis syndrome, hereditary mixed, 2 4 11 149 0 4 0 168
Generalized juvenile polyposis/juvenile polyposis coli 17 7 45 9 18 2 95
Polyposis syndrome, hereditary mixed, 2; Juvenile polyposis syndrome 0 2 33 7 0 0 42
Pulmonary arterial hypertension; Idiopathic and/or familial pulmonary arterial hypertension 0 0 0 0 0 39 39
BMPR1A-related disorder 0 0 18 9 0 0 27
Pulmonary arterial hypertension 0 0 9 3 0 1 13
Carcinoma of colon 0 0 1 3 0 0 4
Familial colorectal cancer type X 1 0 0 3 0 0 4
Generalized juvenile polyposis/juvenile polyposis coli; Polyposis syndrome, hereditary mixed, 2 0 0 4 0 0 0 4
Malignant tumor of breast 0 0 2 1 0 0 3
Juvenile Polyposis 0 1 0 1 0 0 2
Pulmonary arterial hypertension; Pulmonary arterial hypertension associated with congenital heart disease; Pulmonary arterial hypertension associated with another disease 0 0 0 0 0 2 2
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) 0 0 1 0 0 0 1
BMPR1A-Related Polyposis Syndrome 1 0 0 0 0 0 1
Gastrointestinal polyposis 0 0 0 1 0 0 1
Hand oligodactyly; Palpitations; Aplasia/Hypoplasia involving the metacarpal bones; Aplasia/Hypoplasia of the phalanges of the hand 0 0 1 0 0 0 1
Ovarian cancer 0 1 0 0 0 0 1
Pulmonary arterial hypertension associated with congenital heart disease 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 74
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 145 30 864 614 24 0 1675
Ambry Genetics 95 30 620 367 53 0 1165
Color Diagnostics, LLC DBA Color Health 11 6 332 234 15 0 598
Myriad Genetics, Inc. 57 14 17 139 337 0 564
GeneDx 9 10 177 112 99 0 407
All of Us Research Program, National Institutes of Health 1 1 210 103 5 0 320
Baylor Genetics 2 5 148 0 0 0 155
Quest Diagnostics Nichols Institute San Juan Capistrano 7 5 73 22 17 0 124
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 2 46 36 9 0 96
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 28 54 8 0 91
Sema4, Sema4 0 0 43 25 11 0 79
Illumina Laboratory Services, Illumina 0 0 29 9 16 0 54
Department of Pathology and Laboratory Medicine, Sinai Health System 1 2 27 18 6 0 54
PreventionGenetics, part of Exact Sciences 0 0 22 14 8 0 44
Wendy Chung Laboratory, Boston Children's Hospital 0 0 1 0 0 42 43
Counsyl 0 0 23 13 0 0 36
Fulgent Genetics, Fulgent Genetics 0 1 27 0 0 0 28
CeGaT Center for Human Genetics Tuebingen 2 1 4 12 4 0 23
Breakthrough Genomics, Breakthrough Genomics 0 0 3 8 12 0 23
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 3 16 0 19
Mayo Clinic Laboratories, Mayo Clinic 0 0 7 4 6 0 17
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 2 4 7 0 15
University of Washington Department of Laboratory Medicine, University of Washington 4 0 2 7 0 0 13
Genetic Services Laboratory, University of Chicago 0 0 3 7 2 0 12
OMIM 9 0 0 0 0 0 9
Revvity Omics, Revvity 2 0 6 0 0 0 8
Clinical Genetics, Academic Medical Center 0 0 1 1 6 0 8
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 1 6 0 8
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 8 0 0 0 8
True Health Diagnostics 0 0 1 6 0 0 7
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 6 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 5 0 0 0 5
ITMI 0 0 0 0 0 5 5
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 3 0 1 0 4
Mendelics 1 0 1 0 2 0 4
GeneKor MSA 0 0 4 0 0 0 4
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 4 0 4
3billion 1 1 2 0 0 0 4
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 0 0 4 0 0 0 4
Eurofins Ntd Llc (ga) 0 0 0 1 2 0 3
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 0 0 0 3 0 3
Clinical Genetics Laboratory, Skane University Hospital Lund 0 3 0 0 0 0 3
MGZ Medical Genetics Center 0 0 2 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 1 1 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 2 0 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 1 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre 0 0 1 0 1 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Academic Department of Medical Genetics, University of Cambridge 1 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 1 0 1
Pathway Genomics 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 0 1 0 1
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 1 0 0 0 0 1
Clinical Cancer Genetics and Family Consultants, Athens Medical Center 0 0 1 0 0 0 1
deCODE genetics, Amgen 0 1 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 1 0 0 0 0 0 1
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 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.