ClinVar Miner

Variants in gene COL1A2

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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
530 359 989 971 173 106 2791

Condition and significance breakdown #

Total conditions: 76
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 306 115 645 681 60 0 1807
not provided 163 82 315 193 114 0 819
Cardiovascular phenotype 3 9 230 291 14 0 547
not specified 1 1 87 161 47 0 283
Osteogenesis imperfecta 26 42 74 25 43 0 201
Ehlers-Danlos syndrome, arthrochalasia type, 2 14 10 59 13 53 0 147
Osteogenesis imperfecta with normal sclerae, dominant form 69 27 6 1 4 0 106
COL1A2-related disorder 10 26 18 37 1 3 95
Osteogenesis imperfecta, perinatal lethal 40 29 4 0 4 0 76
Osteogenesis imperfecta type III 39 16 11 0 4 0 70
Ehlers-Danlos syndrome 3 9 26 6 6 0 50
Osteogenesis imperfecta type I 38 10 0 0 0 1 49
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, cardiac valvular type; Osteoporosis; Ehlers-Danlos syndrome, arthrochalasia type, 2; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 9 7 7 5 0 0 28
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 9 6 9 0 0 0 24
Connective tissue disorder 0 0 12 12 0 0 24
Ehlers-Danlos syndrome, cardiac valvular type 10 9 4 1 0 0 24
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 19 19
Ovarian serous cystadenocarcinoma 0 0 0 0 0 17 17
Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 8 3 2 1 0 0 14
See cases 2 4 3 0 0 0 9
Ehlers-Danlos syndrome, classic type 2 4 0 0 1 0 7
Melanoma 0 0 0 0 0 7 7
Nonpapillary renal cell carcinoma 0 0 0 0 0 7 7
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III 1 6 0 0 0 0 7
Uterine corpus endometrial carcinoma 0 0 0 0 0 7 7
Familial cancer of breast 0 0 0 0 0 6 6
Inborn genetic diseases 5 1 0 0 0 0 6
Lung cancer 0 0 0 0 0 6 6
Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteoporosis; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, arthrochalasia type, 2 2 0 4 0 0 0 6
Sarcoma 0 0 0 0 0 6 6
Malignant tumor of esophagus 0 0 0 0 0 5 5
Cervical cancer 0 0 0 0 0 3 3
Cholangiocarcinoma 0 0 0 0 0 3 3
Dentinogenesis imperfecta 2 1 0 0 0 0 3
Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta 0 0 0 0 0 3 3
Gastric cancer 0 0 0 0 0 3 3
Hepatocellular carcinoma 0 0 0 0 0 3 3
Osteoporosis 0 3 0 0 0 0 3
Papillary renal cell carcinoma type 1 0 0 0 0 0 3 3
Postmenopausal osteoporosis 2 0 1 0 0 0 3
Abnormality of the skeletal system 0 2 0 0 0 0 2
Ehlers-Danlos syndrome, arthrochalasia type, 2; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 0 0 2 0 0 0 2
Ehlers-Danlos syndrome, cardiac valvular type; Osteogenesis imperfecta; Ehlers-Danlos syndrome, arthrochalasia type, 2 0 0 0 0 0 2 2
Intellectual disability 0 0 0 1 1 0 2
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 2 2
Malignant tumor of urinary bladder 0 0 0 0 0 2 2
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, arthrochalasia type, 2; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 0 0 0 0 0 2 2
Squamous cell lung carcinoma 0 0 0 0 0 2 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Autosomal dominant COL1A2-related disorders 0 1 0 0 0 0 1
Bruck syndrome 1 0 1 0 0 0 0 1
COL1A2-related osteogenesis imperfecta 1 0 0 0 0 0 1
Collagen type 1 disorder 0 1 0 0 0 0 1
Colorectal cancer 0 0 0 0 0 1 1
Ehlers-Danlos syndrome, arthrochalasia type 0 0 1 0 0 0 1
Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I 0 0 0 0 0 1 1
Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta; Osteogenesis Imperfecta, Recessive 0 0 0 0 0 1 1
Ehlers-Danlos syndrome, cardiac valvular type; Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, arthrochalasia type, 2 0 0 0 0 0 1 1
Familial prostate cancer 0 0 0 0 0 1 1
Global developmental delay; Short stature; Single transverse palmar crease; Facial asymmetry; Strabismus; Decreased body weight; Ventricular septal defect 0 0 1 0 0 0 1
Increased susceptibility to fractures 1 0 0 0 0 0 1
Marfan syndrome, atypical 0 0 1 0 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta type III 1 0 0 0 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, arthrochalasia type, 2; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 0 1 0 0 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, arthrochalasia type, 2 0 1 0 0 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, arthrochalasia type; Osteoporosis 0 1 0 0 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Osteoporosis; Ehlers-Danlos syndrome, arthrochalasia type, 2; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 1 0 0 0 0 0 1
Osteogenesis imperfecta, mild 1 0 0 0 0 0 1
Osteogenesis imperfecta, perinatal lethal; Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, arthrochalasia type 0 0 0 0 0 1 1
Ovarian cancer 0 0 0 0 0 1 1
Predisposition to dissection 0 0 1 0 0 0 1
Rare disease with thoracic aortic aneurysm and aortic dissection 0 0 1 0 0 0 1
Short fetal femur length 1 0 0 0 0 0 1
Skeletal dysplasia; Multiple prenatal fractures 1 0 0 0 0 0 1
Thymoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 134
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 310 118 647 687 60 0 1822
GeneDx 120 20 213 147 105 0 605
Ambry Genetics 8 10 230 291 14 0 553
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 22 79 128 20 0 259
Illumina Laboratory Services, Illumina 0 1 62 27 55 0 120
CeGaT Center for Human Genetics Tuebingen 13 8 54 34 4 0 113
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 9 9 23 43 22 0 106
Mayo Clinic Laboratories, Mayo Clinic 0 10 43 34 15 0 102
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 91 91
PreventionGenetics, part of Exact Sciences 7 19 15 38 8 0 87
Breakthrough Genomics, Breakthrough Genomics 0 0 5 21 59 0 85
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 78 2 0 0 0 0 80
Genome Diagnostics Laboratory, The Hospital for Sick Children 8 13 35 11 6 0 72
Revvity Omics, Revvity 26 15 22 0 0 0 63
Athena Diagnostics 17 1 9 4 23 0 54
OMIM 51 0 1 0 0 0 52
Eurofins Ntd Llc (ga) 4 7 16 1 10 0 38
3billion 10 13 7 0 0 0 30
Fulgent Genetics, Fulgent Genetics 9 3 9 5 0 0 26
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 1 12 12 0 0 25
Department of Medical Sciences, Uppsala University 22 0 1 1 0 0 24
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 7 10 0 18
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 9 4 3 0 0 0 16
Genetics Department, Polish Mother's Memorial Hospital Research Institute 1 14 0 0 0 0 15
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 10 2 0 0 0 15
Baylor Genetics 3 6 4 0 0 0 13
Blueprint Genetics 2 6 5 0 0 0 13
Mendelics 6 5 1 0 1 0 13
Clinical Genetics Laboratory, Skane University Hospital Lund 5 4 3 0 0 0 12
Neuberg Centre For Genomic Medicine, NCGM 5 4 3 0 0 0 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 10 1 0 11
Institute of Human Genetics, Cologne University 4 7 0 0 0 0 11
Juno Genomics, Hangzhou Juno Genomics, Inc 4 7 0 0 0 0 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 6 3 1 0 0 0 10
MGZ Medical Genetics Center 4 3 3 0 0 0 10
Molecular Genetics laboratory, Necker Hospital 0 10 0 0 0 0 10
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 3 2 2 1 1 0 9
Clinical Genetics and Genomics, Karolinska University Hospital 7 2 0 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 3 3 0 0 0 8
GenomeConnect, ClinGen 0 0 0 0 0 8 8
Laboratory of Genetics, Children's Clinical University Hospital Latvia 4 0 1 3 0 0 8
Dasa 7 0 0 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 6 0 7
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 6 0 7
Autoinflammatory diseases unit, CHU de Montpellier 0 6 0 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 6 6
Institute of Human Genetics, University of Leipzig Medical Center 3 0 2 0 0 0 5
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 2 3 0 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 0 1 0 0 0 5
Centre of Medical Genetics, University Hospital Muenster 0 3 1 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Genomics England Pilot Project, Genomics England 1 3 0 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 2 1 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 4 0 0 4
Paediatric Orthopaedics Research Lab, Christian Medical College 0 0 4 0 0 0 4
Department of Human Genetics, Medical Research Institute, Alexandria University 2 0 1 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 1 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 2 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 1 0 0 0 3
Istanbul Faculty of Medicine, Istanbul University 1 2 0 0 0 0 3
Laboratory of Genetic Skeletal Anomaly, Seoul National University Children's Hospital 1 2 0 0 0 0 3
MVZ Medizinische Genetik Mainz 2 1 0 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 2 0 0 0 3
Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University 1 1 0 0 0 0 2
Centre for Medical Genetics, Mumbai 0 1 0 1 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 1 0 0 0 2
Dental Genetics Laboratory, Seoul National University School of Dentistry 2 0 0 0 0 0 2
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development 0 2 0 0 0 0 2
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 2 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 2 0 0 0 0 2
MVZ Martinsried, Medicover Genetics 0 1 1 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 1 0 0 0 0 2
Rare Disease Genomics Lab, Stellenbosch Faculty of Medicine 1 1 0 0 0 0 2
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 1 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Variantyx, Inc. 0 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Department Of Medical Genetics, Apollo Hospitals 0 1 0 0 0 0 1
Department of Genetics, Beijing BioBiggen Technology Co., Ltd. 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine 0 1 0 0 0 0 1
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 1 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 0 1
Division of Biology and Genetics, University of Brescia 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Genetic Laboratory, Lianyungang Maternal and Child Health Hospital Affiliated to Kangda College of Nanjing Medical University 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 0 1
Lake Erie College Of Osteopathic Medicine, Lecom Bradenton 1 0 0 0 0 0 1
Medical Genetics Laboratory, Niloo Shiraz Laboratory 0 1 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 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 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Narges Medical Genetic and Prenatal Diagnosis Lab 0 1 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 1 0 0 0 1
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII 0 1 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Prenatal Diagnosis Center, The Second Hospital of Hebei Medical University 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Synevo Romania 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 1

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