ClinVar Miner

Variants in gene COL1A1

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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 association not provided total
476 134 364 256 135 3 3 1212

Condition and significance breakdown #

Total conditions: 39
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Osteogenesis imperfecta type I 313 37 191 91 43 0 0 669
not provided 115 36 68 70 54 0 0 336
Osteogenesis imperfecta 29 37 71 26 48 0 1 208
Infantile cortical hyperostosis 2 2 124 20 15 0 0 162
not specified 5 6 12 89 52 0 0 157
Ehlers-Danlos syndrome, procollagen proteinase deficient 3 0 53 15 66 0 0 137
none provided 3 8 0 11 18 0 0 40
Osteogenesis imperfecta, recessive perinatal lethal 35 2 0 2 0 0 0 39
Osteogenesis imperfecta with normal sclerae, dominant form 24 2 5 0 0 0 0 31
Ehlers-Danlos syndrome, type 7A 0 0 21 2 0 0 0 22
Osteogenesis Imperfecta, Dominant 0 0 21 2 0 0 0 22
Connective tissue disease 0 0 7 14 0 0 0 21
Osteogenesis imperfecta type III 17 0 0 1 0 0 0 18
Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteoporosis; Osteogenesis imperfecta, recessive perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, procollagen proteinase deficient; Osteogenesis imperfecta type I 7 1 4 0 0 0 0 12
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 4 0 0 0 0 0 0 4
Bone mineral density variation quantitative trait locus 0 0 0 0 0 3 0 3
Inborn genetic diseases 1 1 1 0 0 0 0 3
Familial thoracic aortic aneurysm and aortic dissection 0 2 0 0 0 0 0 2
Osteogenesis imperfecta type 1, mild 2 0 0 0 0 0 0 2
Abnormal bleeding 0 1 0 0 0 0 0 1
Blue sclerae; Osteopenia; Increased susceptibility to fractures 1 0 0 0 0 0 0 1
Blue sclerae; Recurrent fractures 0 1 0 0 0 0 0 1
Bruising susceptibility; Fragile skin; Joint hypermobility 0 1 0 0 0 0 0 1
COL1A1-related osteogenesis imperfecta 0 0 1 0 0 0 0 1
Dentinogenesis imperfecta; Recurrent fractures 1 0 0 0 0 0 0 1
Ehlers-Danlos syndrome, classic type 1 0 0 0 0 0 0 1
Ehlers-Danlos syndrome, classic type I 0 0 1 0 0 0 0 1
Ehlers-Danlos syndrome, procollagen proteinase deficient; Osteogenesis imperfecta 0 0 0 0 0 0 1 1
Ehlers-danlos syndrome, arthrochalasia type, 2 0 1 0 0 0 0 0 1
Hypertelorism; Skeletal dysplasia; Cranial asymmetry; Pathologic fracture; Abnormality of the pinna; Anteverted nares; Blue sclerae; Broad forehead; Depressed nasal bridge; Downslanted palpebral fissures; Flat occiput; Premature birth; Triangular face; Wide anterior fontanel; Low-set, posteriorly rotated ears; Osteopenia; Generalized hypotonia; Bowing of limbs due to multiple fractures; Fractures of the long bones; Craniofacial disproportion; Decreased calvarial ossification; Crumpled long bones; Maternal hypertension; Rhizomelia; Neonatal short-limb short stature; Wide cranial sutures; Neonatal asphyxia 1 0 0 0 0 0 0 1
Infantile cortical hyperostosis; Ehlers-Danlos syndrome, classic type; Ehlers-Danlos syndrome, procollagen proteinase deficient; Osteogenesis imperfecta type I 0 0 0 0 0 0 1 1
Joint hypermobility; Reduced bone mineral density 1 0 0 0 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 0 1
OSTEOGENESIS IMPERFECTA, TYPE IIC 1 0 0 0 0 0 0 1
Osteogenesis imperfecta type 2, thin-bone 1 0 0 0 0 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta type III 1 0 0 0 0 0 0 1
Osteogenesis imperfecta, type III/IV 1 0 0 0 0 0 0 1
Wiedemann-Rautenstrauch-like progeroid syndrome 0 1 0 0 0 0 0 1
sellar metastasis from primary bronchial carcinoid tumor 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Invitae 258 25 186 119 49 0 0 637
GeneDx 70 10 25 106 59 0 0 270
Illumina Clinical Services Laboratory,Illumina 0 0 122 51 66 0 0 156
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 19 6 30 4 20 0 0 79
Department of Medical Sciences,Uppsala University 72 1 0 1 0 0 0 74
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 12 20 5 11 25 0 0 73
Athena Diagnostics Inc 23 6 9 0 34 0 0 72
OMIM 67 0 0 0 0 3 0 70
Integrated Genetics/Laboratory Corporation of America 4 22 6 5 3 0 0 40
CeGaT Praxis fuer Humangenetik Tuebingen 9 3 16 8 0 0 0 36
Genetics Department,Polish Mother's Memorial Hospital Research Institute 16 11 1 0 0 0 0 28
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 2 7 14 0 0 0 23
Baylor Genetics 6 7 5 0 0 0 0 18
Mendelics 10 0 1 2 0 0 0 13
Centre for Mendelian Genomics,University Medical Centre Ljubljana 6 2 5 0 0 0 0 13
Fulgent Genetics,Fulgent Genetics 7 1 4 0 0 0 0 12
PreventionGenetics, PreventionGenetics 0 0 0 1 8 0 0 9
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 4 3 1 0 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 3 5 0 0 0 0 0 8
Institute of Human Genetics,Cologne University 6 1 0 0 0 0 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 3 3 0 0 7
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 4 0 0 0 0 0 4
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 3 0 1 0 0 0 0 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 3 0 0 0 0 0 0 3
Ambry Genetics 1 1 1 0 0 0 0 3
Blueprint Genetics 0 0 3 0 0 0 0 3
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 2 1 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Johns Hopkins Genomics, Johns Hopkins University 0 1 2 0 0 0 0 3
Centre for Genomic and Experimental Medicine,University of Edinburgh 0 2 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 0 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 1 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 0 2
Breda Genetics srl 1 0 1 0 0 0 0 2
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 0 0 2 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 0 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 0 0 1 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 0 0 0 0 0 0 1
Paediatric Orthopaedics Research Lab,Christian Medical College 1 0 0 0 0 0 0 1
Neurosurgery,Yale University School of Medicine 0 0 1 0 0 0 0 1

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