ClinVar Miner

Variants in gene COL1A2

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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 not provided total
202 122 285 208 109 6 843

Condition and significance breakdown #

Total conditions: 34
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 78 47 143 81 24 0 373
not provided 59 28 65 80 40 0 264
Osteogenesis imperfecta 5 25 68 23 42 0 158
Ehlers-danlos syndrome, arthrochalasia type, 2 6 2 54 13 53 0 128
not specified 0 1 12 59 28 0 97
none provided 2 2 4 11 14 0 33
Osteogenesis imperfecta with normal sclerae, dominant form 20 5 3 1 0 0 29
Osteogenesis imperfecta type III 18 2 8 0 0 0 28
Connective tissue disease 0 0 12 12 0 0 24
Osteogenesis imperfecta, recessive perinatal lethal 16 4 0 0 0 0 20
Osteogenesis imperfecta type I 11 5 0 0 0 1 17
Inborn genetic diseases 5 2 3 0 0 0 10
Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteoporosis; Osteogenesis imperfecta, recessive perinatal lethal; Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-danlos syndrome, arthrochalasia type, 2 3 0 5 0 0 0 8
Ehlers-Danlos syndrome, classic type 2 4 0 0 1 0 7
Ehlers-Danlos syndrome, cardiac valvular type 6 0 0 0 0 0 6
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 5 0 0 0 0 0 5
COL1A2-Related Disorder 1 0 0 0 0 3 4
Ehlers-Danlos syndrome, procollagen proteinase deficient 0 0 3 0 1 0 4
Osteogenesis Imperfecta, Dominant 0 0 2 0 1 0 3
COL1A2-Related Disorders 0 0 2 0 0 0 2
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, recessive perinatal lethal; Osteogenesis imperfecta type III 0 2 0 0 0 0 2
Postmenopausal osteoporosis 1 0 1 0 0 0 2
Dentinogenesis imperfecta 0 1 0 0 0 0 1
Ehlers-Danlos syndrome, cardiac valvular type; Osteogenesis imperfecta type I; Ehlers-danlos syndrome, arthrochalasia type, 2 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
Infantile cortical hyperostosis 0 0 1 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, recessive 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, atypical, with joint hypermobility 1 0 0 0 0 0 1
Osteogenesis imperfecta, mild 1 0 0 0 0 0 1
Osteogenesis imperfecta, recessive perinatal lethal; Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, procollagen proteinase deficient 0 0 0 0 0 1 1
Predisposition to dissection 0 0 1 0 0 0 1
Skeletal dysplasia; Multiple prenatal fractures 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 78 47 143 114 27 0 409
GeneDx 31 9 25 81 51 0 197
Illumina Clinical Services Laboratory,Illumina 0 0 65 27 56 0 123
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 7 5 8 15 18 0 53
OMIM 51 0 1 0 0 0 52
Athena Diagnostics Inc 14 1 6 2 17 0 40
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 4 7 16 1 10 0 38
CeGaT Praxis fuer Humangenetik Tuebingen 4 4 23 6 0 0 37
Integrated Genetics/Laboratory Corporation of America 1 10 10 8 2 0 31
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
Genetics Department,Polish Mother's Memorial Hospital Research Institute 1 12 0 0 0 0 13
Baylor Genetics 3 5 3 0 0 0 11
Ambry Genetics 5 2 3 0 0 0 10
PreventionGenetics, PreventionGenetics 0 0 0 1 7 0 8
Fulgent Genetics,Fulgent Genetics 3 0 5 0 0 0 8
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 3 3 0 0 0 8
Mendelics 2 4 0 0 1 0 7
Institute of Human Genetics,Cologne University 3 3 0 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 6 6
Blueprint Genetics 0 0 5 0 0 0 5
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 3 1 0 0 0 0 4
Paediatric Orthopaedics Research Lab,Christian Medical College 0 0 4 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 0 2
Genomics, and Precision Dentistry Research Unit, Faculty of Dentistry, Chulalongkorn University 1 1 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 1 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 0 1 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 1

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