ClinVar Miner

Variants in gene COL1A1

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Gene type:
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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
360 100 233 210 100 3 2 914

Condition and significance breakdown #

Total conditions: 32
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
not provided 104 33 62 91 81 0 0 352
Osteogenesis imperfecta type I 203 24 102 16 3 0 0 348
not specified 5 6 12 90 50 0 0 157
Infantile cortical hyperostosis 1 0 70 20 0 0 0 90
Ehlers-Danlos syndrome, type 7A 0 0 70 20 0 0 0 89
Osteogenesis Imperfecta, Dominant 0 0 70 20 0 0 0 89
Osteogenesis imperfecta 22 32 6 4 1 0 1 65
Osteogenesis imperfecta, recessive perinatal lethal 33 0 0 2 0 0 0 35
Connective tissue disorder 0 0 7 14 0 0 0 21
Osteogenesis imperfecta with normal sclerae, dominant form 19 0 0 0 0 0 0 19
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
Bone mineral density variation quantitative trait locus 0 0 0 0 0 3 0 3
Ehlers-Danlos syndrome, procollagen proteinase deficient 3 0 0 0 0 0 0 3
Inborn genetic diseases 1 1 1 0 0 0 0 3
Osteogenesis imperfecta type 1, mild 2 0 0 0 0 0 0 2
Thoracic aortic aneurysm and aortic dissection 0 2 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
Dentinogenesis imperfecta; Recurrent fractures 1 0 0 0 0 0 0 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 0 1 0 0 0 0 0 1
Ehlers-Danlos syndrome, classic type 1 0 0 0 0 0 0 1
Ehlers-Danlos syndrome, procollagen proteinase deficient; Osteogenesis imperfecta 0 0 0 0 0 0 1 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
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
Oi/eds combined syndrome 1 0 0 0 0 0 0 1
Osteogenesis imperfecta type 2, thin-bone 1 0 0 0 0 0 0 1
Osteogenesis imperfecta, type III/IV 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Invitae 141 18 98 86 49 0 0 392
GeneDx 70 10 25 106 59 0 0 270
Illumina Clinical Services Laboratory,Illumina 0 0 70 20 0 0 0 89
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
OMIM 64 0 0 0 0 3 0 67
Athena Diagnostics Inc 21 5 6 0 29 0 0 61
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 9 12 5 2 18 0 0 46
Integrated Genetics/Laboratory Corporation of America 4 22 6 5 2 0 0 39
Center for Human Genetics, Inc 0 2 7 14 0 0 0 23
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 13 2 0 0 0 17
Genetics Department,Polish Mother's Memorial Hospital Research Institute 9 6 0 0 0 0 0 15
Mendelics 10 0 1 2 0 0 0 13
Fulgent Genetics,Fulgent Genetics 7 1 4 0 0 0 0 12
Baylor Genetics 4 5 0 0 0 0 0 9
PreventionGenetics,PreventionGenetics 0 0 0 1 8 0 0 9
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 3 3 0 0 7
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 4 2 1 0 0 0 0 7
Institute of Human Genetics,Cologne University 5 0 0 0 0 0 0 5
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 1 0 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
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
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 1 0 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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 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
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
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health: 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
Johns Hopkins Genomics,Johns Hopkins University 0 0 1 0 0 0 0 1
Paediatric Orthopaedics Research Lab,Christian Medical College 1 0 0 0 0 0 0 1

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